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GBX1 Gene

protein-coding   GIFtS: 44
GCID: GC07M150845

Gastrulation Brain Homeobox 1

(Previous name: gastrulation brain homeo box 1)
  Search for GBX1
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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This gene clusters with an RNA gene
Subcategory (RNA class): lncRNA

Quality score for the ORGUL clustered with this gene is 3

Aliases
Gastrulation Brain Homeobox 11 2
Gastrulation And Brain-Specific Homeobox Protein 12 3
Gastrulation Brain Homeo Box 11
Huh-172
Homeobox Protein GBX-12

External Ids:    HGNC: 41851   Entrez Gene: 26362   Ensembl: ENSG000001649007   OMIM: 6033545   UniProtKB: Q145493   
ORGUL members:         

Export aliases for GBX1 gene to outside databases

Previous GC identifers: GC07U990039 GC07M149093 GC07M150160 GC07M150237 GC07M150283 GC07M150476 GC07M144657


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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GeneCards Summary for GBX1 Gene:
GBX1 (gastrulation brain homeobox 1) is a protein-coding gene. GO annotations related to this gene include sequence-specific DNA binding and sequence-specific DNA binding transcription factor activity. An important paralog of this gene is DLX2.


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000007.14  NC_018918.2  NT_007933.16  
Regulatory elements:
   Regulatory transcription factor binding sites in the GBX1 gene promoter:
         HNF-4alpha2   HNF-4alpha1   NF-AT   NF-AT4   NF-AT2   POU2F1   POU2F1a   NF-AT3   NF-AT1   ATF   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for GBX1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat GBX1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 7q36.1   Ensembl cytogenetic band:  7q36.1   HGNC cytogenetic band: 7q36.1

GBX1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
GBX1 gene location

GeneLoc information about chromosome 7         GeneLoc Exon Structure

GeneLoc location for GC07M150845:  view genomic region     (about GC identifiers)

Start:
150,845,676 bp from pter      End:
150,871,832 bp from pter
Size:
26,157 bases      Orientation:
minus strand

1 alternative location:
Chr7-,CRA_TCAG 150,175,196-150,194,388     

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, Cloud-Clone Corp, and/or others.)
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UniProtKB/Swiss-Prot: GBX1_HUMAN, Q14549 (See protein sequence)
Recommended Name: Homeobox protein GBX-1  
Size: 363 amino acids; 37629 Da
3 PDB 3D structures from and Proteopedia for GBX1:
2M34 (3D)        2ME0 (3D)        2ME6 (3D)    

Explore the universe of human proteins at neXtProt for GBX1: NX_Q14549

Explore proteomics data for GBX1 at MOPED


See GBX1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

REFSEQ proteins: NP_001092304.1  
ENSEMBL proteins: 
 ENSP00000297537  

GBX1 Human Recombinant Protein Products:

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OriGene Purified Protein for GBX1
OriGene Protein Over-expression Lysate for GBX1
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Cloud-Clone Corp. Proteins for GBX1

GBX1 Antibody Products:

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Novus Biologicals GBX1 Antibodies
Abcam antibodies for GBX1
Cloud-Clone Corp. Antibodies for GBX1
Search ThermoFisher Antibodies for GBX1
LSBio Antibodies in human, mouse, rat for GBX1

GBX1 Assay Products:

Browse Kits and Assays available from EMD Millipore
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Browse R&D Systems for biochemical assays
GenScript Custom Assay Services for GBX1
Browse Enzo Life Sciences for kits & assays
Cloud-Clone Corp. ELISAs for GBX1
Cloud-Clone Corp. CLIAs for GBX1


(According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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HGNC Gene Families:
HOXL: Homeoboxes / ANTP class : HOXL subclass

4 InterPro protein domains:
 IPR020479 Homeobox_metazoa
 IPR017970 Homeobox_CS
 IPR001356 Homeobox_dom
 IPR009057 Homeodomain-like

Graphical View of Domain Structure for InterPro Entry Q14549

ProtoNet protein and cluster: Q14549

1 Blocks protein domain: IPB000047 Lambda and other repressor helix-turn-helix signature

UniProtKB/Swiss-Prot: GBX1_HUMAN, Q14549
Similarity: Contains 1 homeobox DNA-binding domain


GBX1 for domains           About GeneDecksing


(According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Molecular Function:
     Genatlas biochemistry entry for GBX1:
mouse telencephalon expressed Gbx homolog 1,gastrulation and brain speciifc-2,homeo domain encoding gene

     Gene Ontology (GO): 3 molecular function terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0003677DNA binding ----
GO:0003700sequence-specific DNA binding transcription factor activity IEA--
GO:0043565sequence-specific DNA binding IEA--
     
GBX1 for ontologies           About GeneDecksing


Phenotypes:
     2 GenomeRNAi human phenotypes for GBX1:
 G0/1 arrest  Increased G1 DNA content 

     4 MGI mutant phenotypes (inferred from 3 alleles(MGI details for Gbx1):
 behavior/neurological  integument  nervous system  normal 

GBX1 for phenotypes           About GeneDecksing

Animal Models:
     MGI mouse knock-out Gbx1tm1.1Stwt for GBX1

   inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for GBX1
   inGenious Targeting Laboratory: Contact us about creating complex and humanized mouse models for GBX1

   genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for GBX1
   genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for GBX1

miRNA
Products:
    
Block miRNA regulation of human, mouse, rat GBX1 using miScript Target Protectors
Search for qRT-PCR Assays for microRNAs that regulate GBX1
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
    
OriGene RNAi products in human, mouse, rat for GBX1
Predesigned siRNA for gene silencing in human, mouse, rat GBX1

Gene Editing
Products:
DNA2.0 Custom Protein Engineering Service for GBX1

Clone
Products:
     
OriGene clones in human, mouse for GBX1 (see all 5)
OriGene ORF clones in mouse, rat for GBX1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GBX1 (NM_001098834)
Browse Sino Biological Human cDNA Clones
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBX1

Cell Line
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Browse ESI BIO Cell Lines and PureStem Progenitors for GBX1 
In Situ Assay
Products:
   

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBX1


(According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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Subcellular locations from UniProtKB/Swiss-Prot
GBX1_HUMAN, Q14549: Nucleus (By similarity)
Subcellular locations from COMPARTMENTS: 

CompartmentConfidence
nucleus5

Gene Ontology (GO): 2 cellular component terms:    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0000228nuclear chromosome ----
GO:0005634nucleus IEA--

GBX1 for ontologies           About GeneDecksing


(SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for GBX1
Interactions:

    Search GeneGlobe Interaction Network for GBX1

Gene Ontology (GO): Selected biological process terms (see all 6):    About this table

GO IDQualified GO termEvidencePubMed IDs
GO:0006351transcription, DNA-templated IEA--
GO:0006355regulation of transcription, DNA-templated ----
GO:0007628adult walking behavior IEA--
GO:0019230proprioception IEA--
GO:0021522spinal cord motor neuron differentiation IEA--

GBX1 for ontologies           About GeneDecksing



(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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Browse Small Molecules at EMD Millipore
   Browse drugs & compounds from Enzo Life Sciences
  Browse compounds at ApexBio 

Browse Tocris compounds for GBX1



(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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REFSEQ mRNAs for GBX1 gene: 
NM_001098834.2  

Unigene Cluster for GBX1:

Gastrulation brain homeobox 1
Hs.647114  [show with all ESTs]
Unigene Representative Sequence: NM_001098834
2 Ensembl transcripts including schematic representations, and UCSC links where relevant:
ENST00000297537(uc011kvg.2) ENST00000475831
miRNA
Products:
     
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Search for qRT-PCR Assays for microRNAs that regulate GBX1
Browse SwitchGear 3'UTR luciferase reporter plasmids
Inhib. RNA
Products:
     
OriGene RNAi products in human, mouse, rat for GBX1
Predesigned siRNA for gene silencing in human, mouse, rat GBX1
Clone
Products:
     
OriGene clones in human, mouse for GBX1 (see all 5)
OriGene ORF clones in mouse, rat for GBX1
OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
GenScript: all cDNA clones in your preferred vector: GBX1 (NM_001098834)
DNA2.0 Custom Codon Optimized Gene Synthesis Service for GBX1
Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat GBX1
Primer
Products:
    
OriGene qSTAR qPCR primer pairs in human, mouse for GBX1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GBX1
  QuantiTect SYBR Green Assays in human, mouse, rat GBX1
  QuantiFast Probe-based Assays in human, mouse, rat GBX1

1 DOTS entry:

DT.121044377 

GeneLoc Exon Structure


(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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GBX1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>2/3
CGAP TAG: TCAACAGGTT
GBX1 Expression
About this image

GBX1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

GBX1 Protein Expression

SOURCE GeneReport for Unigene cluster: Hs.647114
    Custom PCR Arrays for GBX1
Primer
Products:
OriGene qSTAR qPCR primer pairs in human, mouse for GBX1
Pre-validated RT2 qPCR Primer Assay in human, mouse, rat GBX1
QuantiTect SYBR Green Assays in human, mouse, rat GBX1
QuantiFast Probe-based Assays in human, mouse, rat GBX1
In Situ
Assay Products:
 

 
Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for GBX1

(Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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This gene was present in the common ancestor of animals.

Orthologs for GBX1 gene from Selected species (see all 11)    About this table
Organism Taxonomic
classification
Gene Description Human
Similarity
Orthology
Type
Details
mouse
(Mus musculus)
Mammalia Gbx11 , 5 gastrulation brain homeobox 11, 5 89.88(n)1
93.15(a)1
  5 (11.93 cM)5
2310441  NM_015739.21  NP_056554.11 
 245027575 
chicken
(Gallus gallus)
Aves GBX11 gastrulation brain homeobox 1 76.62(n)
79.25(a)
  395377  XM_003640629.2  XP_003640677.1 
lizard
(Anolis carolinensis)
Reptilia --
--
26(a)
many ↔ many
1(87939810-87954050)
zebrafish
(Danio rerio)
Actinopterygii gbx11 gastrulation brain homeobox 1 67.76(n)
72.46(a)
  142985  NM_174861.2  NP_777286.1 
fruit fly
(Drosophila melanogaster)
Insecta unpg6
unplugged
28(a)
1 → many
2R(5082719-5087377)
worm
(Caenorhabditis elegans)
Secernentea ceh-126
Protein CEH-12 (ceh-12) mRNA, complete cds
30(a)
1 → many
I(5840289-5841888) WBGene00000436


ENSEMBL Gene Tree for GBX1 (if available)
TreeFam Gene Tree for GBX1 (if available)

(Paralogs according to 1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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Paralogs for GBX1 gene
DLX22  BARX12  NKX1-12  VENTX2  GBX22  BARHL12  BARHL22  MNX12  
BARX22  DLX12  DLX32  LBX22  NKX1-22  BSX2  DLX52  DLX62  
DLX42  LBX12  MSX22  MSX12  
8 SIMAP similar genes for GBX1 using alignment to 1 protein entry:     GBX1_HUMAN:
HMX2    HOX B6    HOXA4    HOXB1    HHEX    HOXC13
GBX2    HOXD11

GBX1 for paralogs           About GeneDecksing



(SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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Selected SNPs for GBX1 (see all 338)    About this table    
Genomic DataTranscription Related DataAllele Frequencies
SNP IDValidClinical
significance
Chr 7 posSequence#AA
Chg
TypeMore#Allele
freq
PopTotal
sample
More
----------
rs1472905691,2
C--150845650(+) CCCTCA/GCCTTC 1 -- ds50010--------
rs2020465641,2
--150845717(+) GCTCCA/GCACAG 2 R W mis10--------
rs2015667611,2
C--150845722(+) GCACAG/ACAAAC 2 /A /V mis11Minor allele frequency- A:0.00EU 1323
rs1995154741,2
C--150845788(+) CAGAAC/TGGCTG 2 H R mis11Minor allele frequency- T:0.00EU 1323
rs751762551,2
C,F--150845853(+) ATCTTG/TACCTG 2 V syn11Minor allele frequency- T:0.03EA 120
rs2014173191,2
C--150845886(+) TGGGCG/AATCTG 2 /I syn11Minor allele frequency- A:0.00EU 1323
rs2007853191,2
--150845912(+) GCTCAA/GGTATT 2 L syn10--------
rs2003332321,2
C--150845977(+) TGCGGC/TGCCGT 2 H R mis10--------
rs2013951691,2
C--150846022(+) TCACCA/GGTGCC 2 P L mis10--------
rs69707681,2
C,H--150846058(+) TTCCCT/CTTAGC 2 /K /R mis1 ese35Minor allele frequency- C:0.00NS EA NA 416
rs2001199341,2
--150846083(+) CAGAAA/GAGCCC 2 L F mis10--------
rs1924790271,2
C--150846105(+) GCAGAA/CCTGTC 2 R S mis10--------
rs119757991,2,,4
C,F,H--150846188(+) TGATGC/TCTCCA 2 T A mis18Minor allele frequency- T:0.05NS EA NA WA 600
rs1410409621,2
--150846322(+) GGGGGA/GTTGGG 1 -- int10--------
rs1845064551,2
--150846415(+) TGGAAC/TGGGAA 1 -- int10--------
rs1877885021,2
--150846630(+) CAGAGC/TCAGGC 1 -- int10--------
rs1170937031,2
C,F--150846699(+) AGCCAC/TTGGGG 1 -- int11Minor allele frequency- T:0.01NA 120
rs1418686701,2
C--150846765(+) GCTCA-/AGCCTT 1 -- int10--------
rs1918450871,2
--150846886(+) ATTTCC/TATGGC 1 -- int10--------
rs1448757601,2
--150847023(+) CCCAGC/TCAAGG 1 -- int10--------
rs1843901221,2
--150847400(+) AACAAA/GTCAAA 1 -- int10--------
rs1891934881,2
--150847543(+) ATCGGC/TCACAT 1 -- int10--------
rs1508266621,2
--150847616(+) TCAGGA/GCACGG 1 -- int10--------
rs1819218801,2
--150847619(+) GGGCAC/TGGGGA 1 -- int10--------
rs1857248011,2
--150847691(+) AGCTTC/TCTGGT 1 -- int10--------
rs1131926711,2
C,F--150847711(+) CAGCAT/CACCCC 1 -- int11Minor allele frequency- C:0.00CSA 1
rs1906807681,2
--150847723(+) CCCCAC/TCCCCT 1 -- int10--------
rs1806871391,2
--150847726(+) CACCCA/CCTGCC 1 -- int10--------
rs10017601,2
C,F,A,H--150847749(+) CCCTCG/ACAGGT 1 -- int119Minor allele frequency- A:0.42NS EA NA WA CSA 1278
rs1861764961,2
--150847795(+) ATTGAC/TATTTT 1 -- int10--------
rs1899752211,2
--150847980(+) CCTGGC/TTAATT 1 -- int10--------
rs1813065871,2
--150848129(+) TTTCCC/TTAGTG 1 -- int10--------
rs1140534181,2
--150848384(+) GCCCAC/GCATCA 1 -- int10--------
rs1857821281,2
--150848433(+) AATTCA/GCCCCT 1 -- int10--------
rs1499823711,2
--150848480(+) TCTCAC/TCCCTA 1 -- int10--------
rs47260001,2
C,F,A,H--150848537(+) CCTTCA/GTTTCA 1 -- int126Minor allele frequency- N:0.00NS EA NA WA 2980
rs1160090761,2
F--150848604(+) CCAAAT/CTGAAC 1 -- int11Minor allele frequency- C:0.01WA 118
rs1452692621,2
--150848715(+) ACCTCA/GATGCC 1 -- int10--------
rs746560451,2
C,F--150848732(+) TTACTC/TCTCTC 1 -- int11Minor allele frequency- T:0.16EA 120
rs1412900421,2
--150848975(+) TCTTGC/TACTAG 1 -- int10--------
rs1906802021,2
--150849097(+) TTGGTC/TCATTT 1 -- int10--------
rs64641321,2
C,F,A,H--150849164(+) GTGAAA/GGTAGG 1 -- int136Minor allele frequency- N:0.00NS EA NA WA CSA 3409
rs1441052001,2
--150849279(+) AGAAAC/TGATTT 1 -- int10--------
rs125364831,2
H--150849341(+) CTTTCC/GTAAGC 1 -- int1 trp34Minor allele frequency- G:0.00NS EA 418
rs562670911,2
C,F--150849353(+) TCTCCG/AACGAT 1 -- int13Minor allele frequency- A:0.18WA CSA 122
rs1840139601,2
--150849364(+) ATTCCC/TCACAA 1 -- int10--------
rs1464726251,2
--150849607(+) AAAAGA/TATAAC 1 -- int10--------
rs1411248351,2
--150849994(+) CATGAC/TATTGA 1 -- int10--------
rs1432077511,2
--150850148(+) CCAAGG/TCAGGT 1 -- int10--------
rs1886063321,2
--150850194(+) AGAAAC/TAGCAG 1 -- int10--------
rs608490781,2
C,F--150850209(+) ATTAAA/TTGATG 1 -- int13Minor allele frequency- T:0.17WA CSA 122
rs793673671,2
C,F--150850210(+) TTAAAT/CGATGA 1 -- int11Minor allele frequency- C:0.16EA 120
rs1482724361,2
--150850252(+) GAGAAA/GGGAGA 1 -- int10--------
rs1922983491,2
--150850279(+) AATCAA/GGGGAA 1 -- int10--------
rs69479881,2
C,F,A,H--150850472(+) AGTGCG/AATCCT 1 -- int135Minor allele frequency- A:0.44NS EA NA WA CSA 3279
rs1401236401,2
--150850487(+) AATGTA/GGAAAT 1 -- int10--------
rs354026641,2
C--150850637(+) AAATC-/TTTTTT 1 -- int12Minor allele frequency- T:0.25NA 4
rs1824467261,2
--150850731(+) CTGGTC/TTCAAG 1 -- int10--------
rs1126504791,2
C--150850779(+) TAGGCG/ACACAC 1 -- int11Minor allele frequency- A:0.50CSA 2
rs14306221,2
C,F,A--150850835(+) tgcagA/Tgttgg 1 -- int1 tfbs313Minor allele frequency- T:0.41NA WA CSA EA 511
rs1140197151,2
C,F--150850872(+) CTCAAA/GCTTCT 1 -- int11Minor allele frequency- G:0.07WA 118
rs1147698861,2
F--150851293(+) TGTCTC/TGAAAA 1 -- int11Minor allele frequency- T:0.02WA 118
rs1868400231,2
--150851360(+) ATAAAC/TAAATA 1 -- int10--------
rs1136833121,2
C,F--150851372(+) GAATTA/TAAAAT 1 -- int12Minor allele frequency- T:0.04CSA WA 120
rs47253941,2
C,F,A,H--150851566(+) TATTAT/CTGGTA 1 -- int121Minor allele frequency- C:0.33NA NS EA WA 2480
rs1163971111,2
C,F--150851595(+) GTTTCC/TAGCTT 1 -- int11Minor allele frequency- T:0.08WA 118
rs1917116671,2
--150851608(+) TCCCTA/GTGGTT 1 -- int10--------
rs1502935451,2
--150851718(+) GGATGC/TTATTA 1 -- int10--------
rs1843456301,2
--150851767(+) ACTTGC/TAGAGT 1 -- int10--------
rs1173190251,2
F--150851783(+) TCAAGG/AGCATT 1 -- int11Minor allele frequency- A:0.02EA 120
rs1874947701,2
--150851825(+) CAGGAA/GACGTG 1 -- int10--------
rs1920022681,2
--150851839(+) GCATGG/TGGCCT 1 -- int10--------
rs1130896531,2
C,F--150851911(+) CAGTTC/TGGGCT 1 -- int11Minor allele frequency- T:0.50CSA 2
rs1853018481,2
--150852033(+) GGAGGA/GGGAGG 1 -- int10--------
rs1472991461,2
--150852099(+) AGCCCC/TTGTGC 1 -- int10--------
rs1392001641,2
C--150852129(+) TACTGC/TAGCTC 1 -- int10--------
rs763673641,2
C,F--150852144(+) TGTTAT/CCACCG 1 -- int11Minor allele frequency- C:0.03NA 120
rs744737081,2
C--150852148(+) ATCACC/TGTAGG 1 -- int10--------
rs1448640141,2
C--150852300(+) GGACAA/GTGAAT 1 -- int10--------
rs1485797901,2
C--150852322(+) TTTCAC/TAGGCC 1 -- int10--------
rs1159144741,2
F--150852344(+) TCCCTG/CAATCC 1 -- int11Minor allele frequency- C:0.01WA 118
rs69790151,2
C,F,A,H--150852393(+) ACAGGA/TCATTC 1 -- int125Minor allele frequency- N:0.00EA NA NS WA CSA 1784
rs1174436711,2
C,F--150852472(+) ATTATT/CTCTCT 1 -- int11Minor allele frequency- C:0.03NA 120
rs1428281191,2
--150852575(+) CCATTA/GTGCTC 1 -- int10--------
rs1902797471,2
--150852586(+) CTACTC/TCTGCC 1 -- int10--------
rs1426010951,2
C--150852631(+) CATTT-/TCTCTCT 1 -- int10--------
rs1824499361,2
--150853159(+) TCTTAC/TCAAAT 1 -- int10--------
rs1460497061,2
--150853220(+) AATCCC/TAGCAC 1 -- int10--------
rs1400794221,2
--150853281(+) GCCTGA/GCCAAC 1 -- int10--------
rs726173601,2
C,F--150853449(+) GTTTGG/AGCGAC 1 -- int11Minor allele frequency- A:0.08EA 120
rs3714301511,2
C--150853504(+) AAAAA-/CGAAAAA 1 -- int10--------
rs1842626801,2
--150853556(+) TACCAC/GAGAGT 1 -- int10--------
rs748946671,2
F--150853599(+) TTCTCA/GGAGAA 1 -- int11Minor allele frequency- G:0.03WA 118
rs47260011,2
H--150853688(+) CCTGAG/AACAAA 1 -- int1 tfbs34Minor allele frequency- A:0.00NS EA 418
rs1436521641,2
C--150854035(+) CAACTA/GTACTC 1 -- int10--------
rs344795481,2
C--150854072(+) AAAAAA/-GTGTA 1 -- int11Minor allele frequency- -:0.00NA 2
rs1882611291,2
--150854144(+) CTTTGC/GGAGGC 1 -- int10--------
rs795494091,2
C--150854168(+) TCAGGA/GGGTCA 1 -- int10--------
rs1811889431,2
--150854304(+) CTTGAA/GCCCGG 1 -- int10--------
rs1856256631,2
C--150854442(+) ACAACC/TTTCTC 1 -- int10--------
rs1410612001,2
C--150854456(+) CATTCC/TTCATA 1 -- int10--------
rs1497140091,2
C--150854501(+) AAAGCC/TTCACT 1 -- int10--------
rs1121520301,2
C--150854510(+) CTGAGC/TGATGG 1 -- int12Minor allele frequency- T:0.07CSA WA 120
rs1901367591,2
--150854629(+) CAAAGG/TATTTC 1 -- int10--------
rs97850171,2
C,F,H--150854637(+) TTCCTT/CTCAGT 1 -- int16Minor allele frequency- C:0.03NS EA WA 534
rs603162211,2
C--150854647(+) TATTTC/ATTCCT 1 -- int13Minor allele frequency- A:0.17WA CSA 122
rs1456623961,2
--150854751(+) TCCCCC/TTTTTG 1 -- int10--------
rs1814696861,2
--150854773(+) TACCCA/GCTTCC 1 -- int10--------
rs1488947091,2
--150854902(+) ATCTCC/TCTGGA 1 -- int10--------
rs1870462561,2
--150854926(+) CTAGCA/GAATTA 1 -- int10--------
rs1177605361,2
--150854970(+) CTCAGG/ATCCTA 1 -- int11Minor allele frequency- A:0.01EA 120
rs726173611,2
C,F--150855033(+) TCTCTT/CACCTC 1 -- int11Minor allele frequency- C:0.20EA 120
rs1173041061,2
F--150855232(+) CGAAGA/GGTTCT 1 -- int11Minor allele frequency- G:0.01EA 120
rs14306241,2
C,F,H--150855244(+) ACTAAA/GTACGA 1 -- int135Minor allele frequency- G:0.43NS EA NA WA CSA 3336
rs1918328091,2
--150855556(+) TTTTTG/TTTTTA 1 -- int10--------
rs737274851,2
C,F--150855583(+) AACAGG/ACCCTA 1 -- int12Minor allele frequency- A:0.12WA 120
rs1841766251,2
--150855662(+) AAACCA/GAAAAG 1 -- int10--------
rs1853109841,2
--150855706(+) ACCCCC/TAATTA 1 -- int10--------
rs737274861,2
C--150855745(+) TCCCCG/AAATAA 1 -- int12Minor allele frequency- A:0.10WA 120
rs1378559931,2
--150855793(+) CCAGAA/GATATT 1 -- int10--------
rs1900209541,2
--150855801(+) ATTTGC/TCCTTT 1 -- int10--------
rs69579561,2
H--150855846(+) CCTAGT/CAACAA 1 -- int14Minor allele frequency- C:0.00NS EA 416
rs734767991,2
C--150855952(+) GCTGCA/GCAAAT 1 -- int14Minor allele frequency- G:0.21WA CSA 123
rs1420720061,2
C--150856068(+) AAGTGC/TGCCAC 1 -- int10--------
rs1823364241,2
--150856115(+) GCTTGC/TTCCTT 1 -- int10--------
rs344073781,2
C,F--150856173(+) CTGAAT/-TTTTT 1 -- int13Minor allele frequency- -:0.33NA CSA 6
rs579780001,2
C,F--150856226(+) GAGTGT/CAGTGG 1 -- int11Minor allele frequency- C:0.20EA 120
rs747170111,2
C,F--150856268(+) CCAGGC/TTCAAG 1 -- int15Minor allele frequency- T:0.14NA WA CSA EA 244
rs1119870101,2
C--150856357(+) TTGTAG/AAGACG 1 -- int11Minor allele frequency- A:0.50WA 2
rs1459023311,2
--150856393(+) GTCTCA/GAACTC 1 -- int10--------
rs802739151,2
C,F--150856470(+) TTTTTG/ATTGTT 1 -- int11Minor allele frequency- A:0.07EA 120
rs1387196531,2
C--150856620(+) ATACAC/TACCAC 1 -- int10--------
rs1415362101,2
--150856764(+) AGGACA/GAGACT 1 -- int10--------
rs1869990061,2
--150856780(+) CTAATA/GTCAGC 1 -- int10--------
rs1929579461,2
--150856940(+) CTACCA/GTCTTT 1 -- int10--------
rs737274881,2
C,F--150856966(+) CTCTCG/ATTTAA 1 -- int11Minor allele frequency- A:0.50WA 2
rs1833036071,2
--150857026(+) GAAGAA/CAAGCC 1 -- int10--------
rs777226771,2
F--150857128(+) GAAAAG/CTATAG 1 -- int12Minor allele frequency- C:0.08NA 122
rs1157341421,2
F--150857346(+) TAATTC/TATAGA 1 -- int11Minor allele frequency- T:0.01WA 118
rs1169587681,2
C,F--150857486(+) CCATTA/GCTTCT 1 -- int11Minor allele frequency- G:0.03NA 120
rs354711301,2
C--150857556(+) CAGAAA/GTATTT 1 -- int10--------
rs1887975661,2
--150857746(+) CTGAAG/TTCAAC 1 -- int10--------
rs18209681,2
H--150857855(-) GCTTAG/AAGTAC 1 -- int14Minor allele frequency- A:0.00NS EA 418
rs560280911,2
C,F--150857906(+) TTTCCC/TGCCTC 1 -- int11Minor allele frequency- T:0.50NA 2
rs1930575661,2
--150857907(+) TTCCCA/GCCTCT 1 -- int10--------
rs1858737181,2
--150857963(+) TACCTG/TGCATA 1 -- int10--------
rs581209761,2
C,F--150857983(+) GTCCTT/CTTCAC 1 -- int12Minor allele frequency- C:0.02WA 120
rs1460631001,2
--150857998(+) TCAGAC/TACAAA 1 -- int10--------
rs1400452581,2
--150858209(+) TTCCTA/GTTGTA 1 -- int10--------
rs47253951,2
C,F,A--150858271(+) TTCCAA/GTTAAA 1 -- int112Minor allele frequency- N:0.00EA NA WA CSA 582
rs1419557981,2
--150858337(+) ACTCAC/TGCCTG 1 -- int10--------
rs1457852411,2
C--150858542(+) ATCCA-/GGGGGTTC 1 -- int10--------
rs1463413261,2
--150858602(+) TGAACA/GCTTTC 1 -- int10--------
rs1116458311,2
C,F--150859180(+) ACAACT/GCCTAA 1 -- int12Minor allele frequency- G:0.07CSA WA 120
rs1485304891,2
C--150859264(+) TGACTA/GTATGC 1 -- int10--------
rs779641581,2
F--150859361(+) TCCACG/ATCATA 1 -- int11Minor allele frequency- A:0.05WA 118
rs1421757071,2
--150859521(+) CTCCTA/TGGAAG 1 -- int10--------
rs787232171,2
C,F--150859533(+) CTCCCC/TGGTCT 1 -- int12Minor allele frequency- T:0.07CSA WA 120
rs1881118811,2
--150859807(+) CTAAGC/TTTTTG 1 -- int10--------
rs346855501,2
C--150859892(+) TGCCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
rs1118150111,2
C--150859892(+) CTGCC-/T/TTT 
        
TTTTT
2 -- int1 cds11CSA 2
rs1511888591,2
--150860055(+) AGCCCA/GGCTAA 1 -- int10--------
rs1911211191,2
--150860067(+) TTTGTA/TTTTTT 1 -- int10--------
rs7684031,2
C,F,A,H--150860246(-) AAGGAT/CGCTAT 1 -- int1108Minor allele frequency- C:0.44NS EA PA EU CA WA NA CSA 7033
rs774344851,2
C,F--150860330(+) CCAGAG/ACTCAC 1 -- int12Minor allele frequency- A:0.08NA EA 240
rs1836257701,2
--150860383(+) TAAGAC/TAGAAT 1 -- int10--------
rs1884302271,2
--150860439(+) TTATTC/TCTAAT 1 -- int10--------
rs1392028131,2
--150860448(+) ATACAC/TTGAGG 1 -- int10--------
rs1814149141,2
--150860528(+) GATCCA/GTCATG 1 -- int10--------
rs7678661,2
C,F,A,H--150860621(+) AAAATA/GACACT 1 -- int112Minor allele frequency- G:0.34NS EA NA WA 892
rs772009331,2
F--150860772(+) TGTGGC/TTAATA 1 -- int11Minor allele frequency- T:0.01NA 120
rs1866790671,2
--150860890(+) TCTCCC/TCTTTA 1 -- int10--------
rs737274891,2
C,F--150860993(+) TTCTAC/TCCAAT 1 -- int12Minor allele frequency- T:0.15WA 120
rs1499460121,2
--150861060(+) CAAGTA/CATAAC 1 -- int10--------
rs1476382021,2
--150861061(+) AAGTCA/GTAACA 1 -- int10--------
rs1158113431,2
F--150861070(+) CAAAGT/GTCCTT 1 -- int11Minor allele frequency- G:0.02WA 118
rs624896311,2
C,F--150861098(+) TAGTAG/CAGAAT 1 -- int12Minor allele frequency- C:0.08NA EA 240
rs1486501691,2
C--150861130(+) AAATT-/AAAAAA 1 -- int10--------
rs1904316831,2
--150861140(+) AAAATA/GGTCCC 1 -- int10--------
rs283770771,2
C,F--150861227(+) CAGTTG/ATAAAA 1 -- int15Minor allele frequency- A:0.08WA CSA NA EA 362
rs1420055661,2
--150861287(+) CACACA/GAGGAA 1 -- int10--------
rs1820743051,2
--150861381(+) GCAGAA/GAGCTC 1 -- int10--------
rs801445321,2
C,F--150861596(+) GAAGCG/ATGTTT 1 -- int12Minor allele frequency- A:0.07CSA WA 120
rs1863110211,2
--150861667(+) TGTTTA/CTTCTG 1 -- int10--------
rs1457429211,2
--150861763(+) TATTCC/TAGCAC 1 -- int10--------
rs2004911231,2
--150861849(+) GAACA-/ACACAAA 1 -- int10--------
rs715335211,2
C--150861863(+) CCCTCTT/-TTTTT 1 -- int11Minor allele frequency- -:0.50NA 2
rs1910564261,2
--150862066(+) CACACA/GCACAC 1 -- int10--------
rs1821671771,2
--150862067(+) ACACAA/CACACA 1 -- int10--------
rs1853798171,2
--150862075(+) ACACAA/GACACA 1 -- int10--------
rs801558921,2
C,F--150862102(+) CACACT/CCACTC 1 -- int11Minor allele frequency- C:0.19EA 120
rs1911185161,2
--150862293(+) TTCCTC/TTCTTT 1 -- int10--------
rs624896321,2
C,F--150862362(+) ACATAT/CAGGTC 1 -- int17Minor allele frequency- C:0.20NA CSA WA EA 366
rs1478065771,2
--150862406(+) ACAAAC/TTGCTT 1 -- int10--------
rs726173621,2
C,F--150862436(+) ATATGC/GCCCTA 1 -- int11Minor allele frequency- G:0.19EA 120
rs1488411771,2
--150862652(+) CTCCCA/GCCCTG 1 -- int10--------
rs753826761,2
C,F--150862665(+) CCCTTT/CTATCT 1 -- int11Minor allele frequency- C:0.08WA 118
rs757651711,2
C,F--150862765(+) GTCTTC/TCTGAT 1 -- int11Minor allele frequency- T:0.07NA 120
rs1833822461,2
--150862800(+) AACAGA/CTGAAT 1 -- int10--------
rs749658001,2
C,F--150863006(+) GCTCCC/TAGGCC 1 -- int12Minor allele frequency- T:0.07CSA WA 120
rs1437755341,2
--150863058(+) GTTGAG/TCAGAA 1 -- int10--------
rs734786051,2
C--150863156(+) AAATTG/ATATAA 1 -- int14Minor allele frequency- A:0.12WA NA 242
rs1883643141,2
--150863751(+) TTGTAG/TCTTGT 1 -- int10--------
rs583040551,2
C,F--150864057(+) CAGGTG/TAACCG 1 -- int16Minor allele frequency- T:0.05NA WA EA EU 1419
rs2017563101,2
C--150864117(+) AAAGTA/CTCTGA 2 E D mis10--------
rs2005454131,2
C--150864185(+) CTCATC/TAGCTT 2 N D mis10--------
rs1931950021,2
--150864234(+) TTGTTG/TCGGGC 2 R syn10--------
rs132419781,2
C,F--150864240(+) CGGGCG/CGCAGT 2 /A syn13Minor allele frequency- C:0.35WA NA EA 358
rs1419408331,2
C--150864913(+) GCCGCC/TGCCGC 1 -- us2k10--------
rs1829124521,2
C--150865067(+) GCCGAC/GGAGAA 1 -- us2k10--------
rs1140949101,2
F--150865075(+) GAAGGC/TGGCGG 1 -- us2k11Minor allele frequency- T:0.15WA 118
rs782463081,2
C,F--150865112(+) CCACCC/TAGTCC 1 -- us2k11Minor allele frequency- T:0.16EA 120
rs1451889141,2
C--150865124(+) CCCCCA/C/TCAACT 1 -- us2k10--------
rs1469316111,2
C--150865149(+) GGGCT-/CCC   
  G
/CCGC
CCGGC
1 -- us2k10--------
rs721697281,2
C--150865150(+) GGCTC-/CCGC  
        
CGGCT
1 -- us2k10--------
rs1390046881,2
--150865204(+) GGGCCA/GAGCGT 1 -- us2k10--------
rs1875458611,2
--150865260(+) CAGGCA/GGCGGG 1 -- us2k10--------
rs1416457041,2
C--150865263(+) GCGGC-/GGGGCC 1 -- us2k10--------
rs1433628491,2
C--150865383(+) GTGGC-/GGGGTCC 1 -- us2k10--------
rs1419872311,2
--150865597(+) ATTGGC/TTCTTC 1 -- us2k10--------
rs780191611,2
C,F--150865662(+) GCCTCG/AGTGGG 1 -- us2k11Minor allele frequency- A:0.14EA 120
rs1925841341,2
--150865665(+) TCGGTG/TGGTAA 1 -- us2k10--------
rs1835028691,2
--150865826(+) TTCCCA/GTCTCT 1 -- us2k10--------
rs1462928171,2
--150865896(+) TCTTGG/TCTGTC 1 -- us2k10--------
rs1895827481,2
--150865988(+) CCAGCA/GCCGCT 1 -- us2k10--------
rs731696241,2
C--150866134(+) TCCCCA/CCTTCT 1 -- us2k10--------
rs1495770991,2
--150866135(+) CCCCCC/TTTCTG 1 -- us2k10--------
rs1926277751,2
--150866158(+) GGTGGC/TGCCTT 1 -- us2k10--------
rs1445515931,2
--150866208(+) GAGTTA/GTCAAT 1 -- us2k10--------
rs69787811,2
A--150866281(+) ACAAGA/GCAGGC 1 -- us2k10--------
rs737274911,2
C--150866443(+) TAGGAC/AGATGC 1 -- us2k11Minor allele frequency- A:0.50WA 2
rs1484654821,2
--150866447(+) AAGATA/GCAGTC 1 -- us2k10--------
rs102550451,2
H--150866464(+) GGGGAA/GGTGAT 1 -- us2k15Minor allele frequency- G:0.00NS EA NA 416
rs1452307721,2
--150866487(+) AGGACA/GAAAAC 1 -- us2k10--------
rs1896312041,2
--150866502(+) ACAAGA/TTCCAG 1 -- us2k10--------
rs47260031,2
C,F--150866516(+) TGCCCG/AGCCAA 1 -- us2k15Minor allele frequency- A:0.19NA WA EA 362
rs748279101,2
C,F--150866852(+) AGAGGT/CGCCTT 1 -- us2k11Minor allele frequency- C:0.29WA 118
rs571866291,2
----150851353(+) AAAAAC/TGATAA 1 -- int10--------
rs3721581781,2
----150864104(+) GGGCAG/TACTTG 2 M L mis10--------
rs3771376601,2
----150857077(+) GCATGA/CTCTTA 1 -- int10--------
rs782997931,2
----150860696(+) TAATGC/TTGAAA 1 -- int10--------
rs3695506521,2
----150847993(+) GTTTA-/TTTTTT 1 -- int10--------
rs665990771,2
----150861884(+) TTTTG-/TT/TTT
        
CTTTC
2 -- int1 cds10--------
rs7678651,2
----150860697(+) AATGTG/TGAAAT 1 -- int10--------
rs3709708051,2
----150846063(+) TTTAGC/TTTCGG 2 K syn10--------
rs346351191,2
----150847873(+) TGGAGC/TATAGT 1 -- int10--------
rs3764672971,2
----150854473(+) TTTCTC/TGTATA 1 -- int10--------
rs3707881981,2
----150861966(+) AAACTC/TTTAAA 1 -- int10--------
rs1469674561,2
----150866560(+) AGTGAC/TATTTG 1 -- us2k10--------
rs3709560651,2
----150866513(+) GATTGC/GCCGGC 1 -- us2k10--------
rs3765667701,2
----150845683(+) AGGGCC/TGGGCC 2 Q R mis10--------
rs3683138781,2
----150854779(+) CTTCC-/TTTAGG 1 -- int10--------
rs3702732461,2
----150853664(+) TAACAA/TCTACT 1 -- int10--------
rs3744882681,2
----150847463(+) TAGTCA/GGCTCC 1 -- int10--------
rs1915064251,2
----150866068(+) AGGAGC/TGCTGA 1 -- us2k10--------
rs344865731,2
----150859939(+) CCCAG-/GCTGGA 1 -- int10--------
rs2013063491,2
----150860090(+) GTTTCA/TCCATG 1 -- int10--------
rs3755228421,2
----150864099(+) TTACCA/GGGCAG 2 P syn10--------
rs3679150691,2
----150849913(+) GTTCAC/TACCTC 1 -- int10--------
rs569477351,2
----150853498(+) AAAAA-/AAAAAA
        
CGAAA
1 -- int10--------
rs3723053651,2
----150855332(+) ATCCAC/TCTAAT 1 -- int10--------
rs3676505201,2
----150862560(+) GCCTGC/TTTACT 1 -- int10--------
rs346013631,2
----150848155(+) CTTTT-/TCCACA 1 -- int10--------
rs3750336661,2
----150848600(+) TGCCCC/TAATTG 1 -- int10--------
rs171737171,2
----150863456(+) TCCAGC/TGTGTG 1 -- int13Minor allele frequency- T:0.01NA 138
rs357640671,2
----150865151(+) GCTCC-/GCCC  
        
GGCTA
1 -- us2k10--------
rs3696161921,2
----150853646(+) CAAACC/TTCACC 1 -- int10--------
rs3698100121,2
----150864100(+) CA/GGCAGA 2 P L mis10--------
rs3728191751,2
----150845301(+) GGTATC/TCCTGT 1 -- ds50010--------
rs14306231,2
----150850997(+) ATTTAA/GAATAA 1 -- int1 tfbs30--------
rs3747486241,2
----150858420(+) AGAGA-/TCTT  
        
CTTTC
1 -- int10--------
rs2014024541,2
----150850636(+) TTTTT-/TCCTGA 1 -- int10--------
rs3772779421,2
----150854038(+) CTGTAC/TTCCAG 1 -- int10--------
rs354470871,2
----150845345(+) TTTGC-/CACAGA 1 -- ds50010--------
rs3769967141,2
----150860245(+) CATAGC/TTCCTT 1 -- int10--------
rs3735629081,2
----150845832(+) GCCCGC/TCGATT 2 R syn10--------
rs609496831,2
----150849038(+) CTTTTA/TAAATT 1 -- int10--------
rs353591811,2
----150847616(+) CAGGG-/GCACGG 1 -- int10--------
rs3742615321,2
----150846010(+) TGACCA/CCTGCT 2 G V mis10--------
rs3729885211,2
----150851396(+) TTGCAA/CTTGTT 1 -- int10--------
rs3761104091,2
----150863562(+) ACGCA-/CCCCCC 1 -- int10--------

HapMap Linkage Disequilibrium report for GBX1 (150845676 - 150871832 bp)

Structural Variations
     Database of Genomic Variants (DGV) 4 variations for GBX1:    About this table    
Variant IDTypeSubtypePubMed ID
dgv7547n71CNV Loss21882294
nsv831188CNV Loss17160897
dgv7545n71CNV Loss21882294
nsv889476CNV Loss21882294

Site Specific Mutation Identification with PCR Assays
Search QIAGEN SeqTarget long-range PCR primers for resequencing GBX1
DNA2.0 Custom Variant and Variant Library Synthesis for GBX1

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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OMIM gene information: 603354    OMIM disorders: --


GBX1 for disorders           About GeneDecksing

Genetic Association Database (GAD): GBX1

Export disorders for GBX1 gene to outside databases

(in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
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PubMed articles for GBX1 gene integrated from 10 sources:
(articles sorted by number of sources associating them with GBX1)
    Utopia: connect your pdf to the dynamic
world of online information

  1. The DNA sequence of human chromosome 7. (PubMed id 12853948)1, 2 Hillier L.W.... Wilson R.K. (Nature 2003)
  2. Expression of a novel human homeobox-containing gene that maps to chromosome 7q36.1 in hematopoietic cells. (PubMed id 8097731)1, 2 Matsui T.... Kurosawa Y. (FEBS Lett. 1993)
  3. The HOX complex neighbored by the EVX gene, as well as two other homeobox-containing genes, the GBX-class and the EN-class, are located on the same chromosomes 2 and 7 in humans. (PubMed id 7903253)1, 3 Matsui T.... Kurosawa Y. (FEBS Lett. 1993)
  4. cDNA cloning and expression of the human NOBOX gene in oocytes and ovarian follicles. (PubMed id 16597639)1 Huntriss J.... Picton H.M. (Mol. Hum. Reprod. 2006)

(in PubMed, OMIM, and NCBI Bookshelf)
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 ANDOR
Aliases
Free Text  

  Query String
PubMed
OMIM
NCBI Bookshelf
  (Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 2636 HGNC: 4185 Ensembl:ENSG00000164900 euGenes: HUgn2636 ECgene: GBX1
H-InvDB: GBX1

(According to HUGE)
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  --

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL, and/or others, e.g. Wikipedia and GeneReviews, via UniProtKB/Swiss-Prot)
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NameDescription
PharmGKB entry for GBX1 Pharmacogenomics, SNPs, Pathways

(Patent information from GeneIP,
Licensable technologies from WIS Yeda, Salk, Tufts,
IP news from LifeMap Sciences, Inc.)
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Patent Information for GBX1 gene:
Search GeneIP for patents involving GBX1

GeneCards and IP:
Japan Patent Office Licenses GeneCards     European Patent Office Licenses GeneCards     Improving the IP Search



(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, Gene Editing from DNA2.0. Clones from OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, and ESI BIO, PCR Arrays from QIAGEN, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, Enzo Life Sciences, and/or ApexBio, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory, genOway)
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