|
|
blepharophimosis, epicanthus inversus and ptosis, candidate...(Previous names: blepharophimosis, epicanthus inversus and ptosis, candidate...)
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Aliases
for BPESC1 gene
(According to
1HGNC,
2Entrez Gene,
3UniProtKB/Swiss-Prot,
4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc,
7Ensembl,
8DME,
9miRBase,
and/or 10fRNAdb)
About This Section
|
Subcategory (RNA class): lncRNA
Quality score for this RNA gene is 3
| Aliases |
|---|
| Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 1 (Non-ProteinCoding)1 2 | | NCRNA001871 2 | | Blepharophimosis, Epicanthus Inversus And Ptosis, Candidate 11 | | BPES Candidate 13 |
| External Ids: | HGNC: 132281 | Entrez Gene: 604672 | Ensembl: ENSG000002324167 | UniProtKB: Q9GZL83 | | ORGUL members: | |
|---|
| NONCODE:n384335 | |
Export aliases for BPESC1 gene to outside databasesPrevious GC identifers: GC03P135716 GC03P139679 GC03P140104 GC03P140143 GC03P140305 GC03U901049 GC03P136198
|---|
Summaries
for BPESC1 gene(According to Entrez Gene,
Tocris Bioscience,
Wikipedia's
Gene Wiki,
PharmGKB,
UniProtKB/Swiss-Prot,
and/or
UniProtKB/TrEMBL)
About This Section
|
-- |
Genomic Views
for BPESC1 gene
(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 69),
Regulatory elements and Epigenetics data according to
QIAGEN,
SABiosciences, and/or
SwitchGear Genomics)
About This Section
| RefSeq DNA sequence:- NC_000003.11 NC_018914.1 NT_005612.16
Regulatory elements:
 Search SABiosciences Regulatory transcription factor binding sites for BPESC1
Other transcription factors
Search SABiosciences Chromatin IP Primers for BPESC1
Epigenetics:
| | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPESC1 |
Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track
Entrez Gene cytogenetic band: 3q23 Ensembl cytogenetic band: 3q23 HGNC cytogenetic band: 3q23BPESC1 Gene in genomic location: bands according to Ensembl, locations according to
 (and/or Entrez Gene and/or Ensembl if different)
GeneLoc information about chromosome 3 GeneLoc Exon Structure GeneLoc location for GC03P138823: view genomic region
(about GC identifiers)
Start:
|
138,823,027 bp from pter |
End:
|
138,844,009 bp from pter |
Size:
|
20,983 bases |
Orientation:
|
plus strand |
|
Proteins
for BPESC1 gene
(According to
1UniProtKB,
HORDE,
neXtProt,
Ensembl,
and/or Reactome,
Modification sites according to 2PhosphoSitePlus,
Specific Peptides from DME,
Protein expression images according to data from SPIRE MOPED and PaxDb,
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
Uscn,
Biochemical Assays by
EMD Millipore,
R&D Systems,
OriGene,
GenScript,
Cell Signaling Technology,
Enzo Life Sciences, and/or
Uscn,
Ontologies according to Gene
Ontology Consortium 01 Mar 2013 and
Entrez Gene,
Antibodies by
EMD Millipore,
R&D Systems,
GenScript,
Cell Signaling Technology,
OriGene,
Novus Biologicals,
Thermo Fisher Scientific,
Abcam, and/or
Uscn)
About This Section
|
UniProtKB/Swiss-Prot: BPEC1_HUMAN, Q9GZL8 (See
protein sequence)Recommended Name: Putative BPES syndrome breakpoint region protein Size: 116 amino acids; 12676 Da
Secondary accessions: Q0VDG2Explore the universe of human proteins at neXtProt for BPESC1: NX_Q9GZL8
BPESC1 Protein expression data from MOPED and PaxDb: --
Human Recombinant Protein Products:
Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0005575 | cellular_component |
ND | -- |
BPESC1 for ontologies About GeneDecksing
BPESC1 Antibody Products:
Assay Products for BPESC1: |
Protein
Domains /
Families
for BPESC1 gene(According to InterPro, ProtoNet,
UniProtKB, and/or BLOCKS,
Sets of similar genes according to GeneDecks)
About This Section
| ProtoNet protein and cluster: Q9GZL8 |
Function
for BPESC1 gene
(According to 1UniProtKB,
Genatlas,
LifeMap Discovery™,
IUBMB, and/or
2DME,
Human phenotypes from GenomeRNAi,
Animal models from MGI Mar 06 2013,
bound targets from SABiosciences,
miRNA Gene Targets from miRTarBase
shRNA from
OriGene,
RNAi from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
microRNA from QIAGEN,
Gene Editing from DNA2.0,
Clones from EMD Millipore,
OriGene,
SwitchGear Genomics,
GenScript,
Sino Biological,
DNA2.0,
and Vector BioLabs,
Cell Lines from GenScript,
LifeMap BioReagents,
In Situ Hybridization Assays from Advanced Cell Diagnostics,
Ontologies according to Gene Ontology Consortium 01 Mar 2013 via
Entrez Gene.)
About This Section
|
In Situ Assay
Products: |
 | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPESC1 |
Gene Ontology (GO): 1 molecular function term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0003674 | molecular_function |
ND | -- |
BPESC1 for ontologies About GeneDecksing
1 GenomeRNAi human phenotype for BPESC1:
|
Pathways & Interactions
for BPESC1 gene
(Pathways according to
EMD Millipore,
R&D Systems,
Cell Signaling Technology,
KEGG,
PharmGKB,
BioSystems,
Reactome,
Tocris Bioscience,
GeneGo (Thomson Reuters),
QIAGEN,
and/or UniProtKB,
Sets of similar genes according to GeneDecks,
Interaction Networks according to
SABiosciences,
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 Mar 2013 via
Entrez Gene).
About This Section
|
Interactions:
Search SABiosciences Gene Network CentralTM Interacting Genes and Proteins Networks for BPESC1
Gene Ontology (GO): 1 biological process term (GO ID links to tree view): About this table | GO ID | Qualified GO term | Evidence | PubMed IDs |
|---|
| GO:0008150 | biological_process |
ND | -- |
BPESC1 for ontologies About GeneDecksing
|
Drugs & Compounds
for BPESC1 gene(Chemical Compounds according to UniProtKB, Enzo Life Sciences,
EMD Millipore, Tocris Bioscience
HMDB,
BitterDB, and/or
Novoseek, and Drugs according to
DrugBank,
Enzo Life Sciences, and/or
PharmGKB, with drugs/clinical trials/news
search links to CenterWatch)
About This Section
|
 Browse Tocris compounds for BPESC1
Search CenterWatch for drugs/clinical trials and news about BPESC1 
|
Transcripts
for BPESC1 gene(Secondary structures according to
fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene
(Build 235 Homo sapiens; Mar 10 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,
RNAi Products from
EMD Millipore,
siRNAs from
OriGene,
QIAGEN,
shRNA from
OriGene,
microRNA from QIAGEN,
Tagged/untagged cDNA clones from
OriGene,
SwitchGear Genomics,
GenScript,
DNA2.0,
Vector BioLabs,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN
)
About This Section
|
REFSEQ mRNAs for BPESC1 gene: NM_021812.1 Unigene Cluster for BPESC1: Blepharophimosis, epicanthus inversus and ptosis, candidate 1 (non-protein coding) Hs.512673 [show with all ESTs]Unigene Representative Sequence: NR_0267831 Ensembl transcript including schematic representation, and UCSC links where relevant: ENST00000418282(lincRNA)(uc003eta.3)
Additional cDNA sequence: BC119686.1 BC119687.1 NR_026783.1 1 DOTS entry: DT.40129417 3 AceView cDNA sequences: AI032396 BX091809 NM_021812
GeneLoc Exon Structure
|
Expression
for BPESC1 gene
(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™,
plus additional links to
Genevestigator, and/or
SOURCE, and/or
BioGPS, and/or
UniProtKB,
PCR Arrays from
SABiosciences,
Primers from
OriGene,
SABiosciences, and/or
QIAGEN,
In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section
| Expression evidence for BPESC1:none
BPESC1 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: --
About this image
Genevestigator expression for BPESC1
SOURCE GeneReport for Unigene cluster: Hs.512673
UniProtKB/Swiss-Prot: BPEC1_HUMAN, Q9GZL8Tissue specificity: Seems to be expressed only in testis
SABiosciences Custom PCR Arrays for BPESC1
Primer
Products: |  | OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for BPESC1
Browse OriGene validated miRNA SYBR primer pairs
| | | SABiosciences RT2 qPCR Primer Assay in human, mouse / rat BPESC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BPESC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BPESC1 | In Situ
Assay Products: |
| Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPESC1 |
Orthologs
for BPESC1 gene
(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)
About This Section
|
--
ENSEMBL Gene Tree for BPESC1 (if available)
TreeFam Gene Tree for BPESC1 (if available) |
Paralogs
for BPESC1 gene(Paralogs according to
1HomoloGene,
2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
About This Section
| -- |
Genomic Variants
for BPESC1 gene(SNPs/Variants according to the
1NCBI SNP Database,
2Ensembl,
3PupaSUITE,
UniProtKB, 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) and the Locus Specific Mutation
Databases (LSDB), Blood group antigen gene mutations by BGMUT,
Resequencing Primers from QIAGEN,
Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section
|
| Genomic Data | Transcription Related Data | Allele Frequencies | | SNP ID | Valid | Clinical
significance | Chr 3 pos | Sequence | # | AA
Chg | Type | More | # | Allele
freq | Pop | Total
sample | More |
|---|
HapMap Linkage Disequilibrium report for BPESC1 (138823027 - 138844009 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 3 variations for BPESC1
3 CNVs: 91599 79935 91598 | SABiosciences Cancer Mutation PCR Assays |
|
Disorders
/ Diseases
for BPESC1 gene
(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.)
About This Section
|
BPESC1 for disorders About GeneDecksing
2  diseases for BPESC1: About MalaCardsblepharophimosis ptosis
Export disorders for BPESC1 gene to outside databases
|
Publications
for BPESC1 gene (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)
About This Section
|
PubMed articles for BPESC1 gene integrated from 9 sources:
(articles sorted by number of sources associating them with BPESC1) | |  | Utopia: connect your pdf to the dynamic
world of online information |
- Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES. (PubMed id 10995571)1, 2, 3 De Baere E.... Messiaen L. (2000)
- The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S....Malek J. (2004)
- The DNA sequence, annotation and analysis of human chromosome 3. (PubMed id 16641997)2 Muzny D.M....Gibbs R.A. (2006)
- Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)1 Strausberg R.L....Marra M.A. (2002)
|
External Searches for BPESC1 gene
(in PubMed,
OMIM, and NCBI Bookshelf)
About This Section
|
|
Genome Databases showing BPESC1 gene
(According to
Entrez Gene,
HGNC,
AceView,
euGenes,
Ensembl,
miRBase,
ECgene,
Kegg,
and/or
H-InvDB)
About This Section
|
|
Other Databases showing BPESC1 gene
(According to HUGE)
About This Section
| -- |
Specialized Databases showing BPESC1 gene(According to PharmGKB,
ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section
|
| Name | Description |
| PharmGKB entry for BPESC1 | Pharmacogenomics, SNPs, Pathways |
|
| | |
About This Section
| Patent Information for BPESC1 gene:
Search GeneIP for patents involving BPESC1
GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search
|
Products
for BPESC1 gene(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript and LifeMap BioReagents, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or
Enzo Life Sciences),
In Situ Hybridization Assays from
Advanced Cell Diagnostics
About This Section
|
 | |
 |
| | | | |
 |
 |
|  | QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat BPESC1 | | | Search QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing BPESC1 | | | QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat BPESC1 | | | QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat BPESC1 | | | QIAGEN QuantiFast Probe-based Assays in human, mouse, rat BPESC1 | | | QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat BPESC1 |
| |
 |  |  |  | |
| | | | Search Tocris compounds for BPESC1 |
| |  |  |  |  | | | | |
 |
 |
 |
 | | | | | | Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for BPESC1 |
|  |  |  | | | | Search ThermoFisher Antibodies for BPESC1 |
| | | Search Vector BioLabs for ready-to-use adenovirus/AAV for human, mouse, rat BPESC1 |
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GeneCards Homepage -
Last full update: 18 Mar 2013 -
Incrementals: 21 Mar 2013 , 15 Apr 2013 , 27 Apr 2013
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