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CNTNAP1 Gene

protein-coding   GIFtS: 61
GCID: GC17P040835

Contactin Associated Protein 1


(Previous symbol: NRXN4)
  See related diseases
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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Aliases
Contactin Associated Protein 11 2     caspr12
NRXN41 2 3 5     Contactin-Associated Protein 12
CASPR2 3 5     neurexin-42
Neurexin 41 2     Caspr3
Neurexin IV2 3     Caspr13
P1902 5     Neurexin-43
CNTNAP2     p1903

External Ids:    HGNC: 80111   Entrez Gene: 85062   Ensembl: ENSG000001087977   OMIM: 6023465   UniProtKB: P783573   

Export aliases for CNTNAP1 gene to outside databases

Previous GC identifers: GC17P040350 GC17P042999 GC17P040743 GC17P041207 GC17P038088 GC17P036601


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for CNTNAP1 Gene:
The gene product was initially identified as a 190-kD protein associated with the contactin-PTPRZ1 complex. The
1,384-amino acid protein, also designated p190 or CASPR for 'contactin-associated protein,' includes an
extracellular domain with several putative protein-protein interaction domains, a putative transmembrane domain,
and a 74-amino acid cytoplasmic domain. Northern blot analysis showed that the gene is transcribed predominantly
in brain as a transcript of 6.2 kb, with weak expression in several other tissues tested. The architecture of its
extracellular domain is similar to that of neurexins, and this protein may be the signaling subunit of contactin,
enabling recruitment and activation of intracellular signaling pathways in neurons. (provided by RefSeq, Jan
2009)

GeneCards Summary for CNTNAP1 Gene:
CNTNAP1 (contactin associated protein 1) is a protein-coding gene. Diseases associated with CNTNAP1 include juvenile astrocytoma, and inherited peripheral neuropathy. GO annotations related to this gene include SH3/SH2 adaptor activity and receptor activity. An important paralog of this gene is ENSG00000236029.

UniProtKB/Swiss-Prot: CNTP1_HUMAN, P78357
Function: Seems to play a role in the formation of functional distinct domains critical for saltatory conduction
of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction.
In association with contactin may have a role in the signaling between axons and myelinating glial cells




(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_000017.11  NT_010783.16  NC_018928.2  
Regulatory elements:
   Regulatory transcription factor binding sites in the CNTNAP1 gene promoter:
         AML1a   ATF-2   c-Jun   
         Other transcription factors

SwitchGear Promoter luciferase reporter plasmidCNTNAP1 promoter sequence
   Search Chromatin IP Primers for CNTNAP1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat CNTNAP1


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

Entrez Gene cytogenetic band: 17q21   Ensembl cytogenetic band:  17q21.2   HGNC cytogenetic band: 17q21

CNTNAP1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
CNTNAP1 gene location

GeneLoc information about chromosome 17         GeneLoc Exon Structure

GeneLoc location for GC17P040835:  view genomic region     (about GC identifiers)

Start:
40,834,631 bp from pter      End:
40,852,011 bp from pter
Size:
17,381 bases      Orientation:
plus strand

(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: CNTP1_HUMAN, P78357 (See protein sequence)
Recommended Name: Contactin-associated protein 1 precursor  
Size: 1384 amino acids; 156267 Da
Subunit: Interacts with contactin in cis form

Explore the universe of human proteins at neXtProt for CNTNAP1: NX_P78357

Explore proteomics data for CNTNAP1 at MOPED

Post-translational modifications: 

  • Glycosylation2 at Asn120, Asn128, Asn276, Asn420, Asn499, Asn518, Asn597, Asn653, Asn664, Asn763,
                                 Asn804, Asn843, Asn860, Asn948, Asn956, Asn1078, Asn1147
  • Modification sites at PhosphoSitePlus

  • See CNTNAP1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_003623.1  
    ENSEMBL proteins: 
     ENSP00000264638   ENSP00000466571  
    Reactome Protein details: P78357

    CNTNAP1 Human Recombinant Protein Products:

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    Cloud-Clone Corp. CLIAs for CNTNAP1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    Selected InterPro protein domains (see all 10):
     IPR028872 Caspr1
     IPR000742 EG-like_dom
     IPR013320 ConA-like_subgrp
     IPR001791 Laminin_G
     IPR014716 Fibrinogen_a/b/g_C_1

    Graphical View of Domain Structure for InterPro Entry P78357

    ProtoNet protein and cluster: P78357

    4 Blocks protein domains:
    IPB000421 Coagulation factor 5/8 type C domain (FA58C)
    IPB001791 Laminin G
    IPB003585 Neurexin/syndecan/glycophorin C
    IPB006210 Type I EGF


    UniProtKB/Swiss-Prot: CNTP1_HUMAN, P78357
    Similarity: Belongs to the neurexin family
    Similarity: Contains 2 EGF-like domains
    Similarity: Contains 1 F5/8 type C domain
    Similarity: Contains 1 fibrinogen C-terminal domain
    Similarity: Contains 4 laminin G-like domains


    CNTNAP1 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:

         UniProtKB/Swiss-Prot Summary: CNTP1_HUMAN, P78357
    Function: Seems to play a role in the formation of functional distinct domains critical for saltatory conduction
    of nerve impulses in myelinated nerve fibers. Seems to demarcate the paranodal region of the axo-glial junction.
    In association with contactin may have a role in the signaling between axons and myelinating glial cells

         Gene Ontology (GO): 4 molecular function terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0004872receptor activity TAS9118959
    GO:0005070SH3/SH2 adaptor activity TAS9118959
    GO:0005515protein binding IPI17474147
    GO:0017124SH3 domain binding ISS--
         
    CNTNAP1 for ontologies           About GeneDecksing


    Phenotypes:
         2 GenomeRNAi human phenotypes for CNTNAP1:
     Increased Salmonella enterica   Synthetic lethal with Ras 

         8 MGI mutant phenotypes (inferred from 8 alleles(MGI details for Cntnap1):
     behavior/neurological  growth/size/body  mortality/aging  muscle  nervous system 
     reproductive system  skeleton  vision/eye 

    CNTNAP1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for CNTNAP1: Cntnap1tm1Pele Ccr10/Cntnap1Ccr10/tm1Bhat

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for CNTNAP1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for CNTNAP1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for CNTNAP1

    miRNA
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    miRTarBase miRNAs that target CNTNAP1:
    hsa-mir-132-3p (MIRT021803)

    Block miRNA regulation of human, mouse, rat CNTNAP1 using miScript Target Protectors
    Selected qRT-PCR Assays for microRNAs that regulate CNTNAP1 (see all 42):
    hsa-miR-15a hsa-miR-503 hsa-miR-3921 hsa-miR-449a hsa-miR-424 hsa-miR-3613-3p hsa-miR-186 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCNTNAP1 3' UTR sequence
    Inhib. RNA
    Products:
        
    OriGene RNAi products in human, mouse, rat for CNTNAP1
    Predesigned siRNA for gene silencing in human, mouse, rat CNTNAP1

    Gene Editing
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    GenScript: all cDNA clones in your preferred vector: CNTNAP1 (NM_003632)
    Browse Sino Biological Human cDNA Clones
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    Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat CNTNAP1

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    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTNAP1


    (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
    CNTP1_HUMAN, P78357: Membrane; Single-pass type I membrane protein (Potential)
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    plasma membrane4
    extracellular2
    cytoskeleton1
    lysosome1
    mitochondrion1
    peroxisome1

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005887integral component of plasma membrane TAS9118959
    GO:0008076colocalizes with voltage-gated potassium channel complex ISS--
    GO:0016021integral component of membrane ISS--
    GO:0030424axon ----
    GO:0033270paranode region of axon ISS--

    CNTNAP1 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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    SuperPaths for CNTNAP1 About    
    See pathways by source

    SuperPathContained pathways About
    1L1CAM interactions
    Axon guidance0.63
    L1CAM interactions0.36
    Developmental Biology0.63
    Neurofascin interactions0.00
    2Cell adhesion molecules (CAMs)
    Cell adhesion molecules (CAMs)

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways


    1 Reactome Pathway for CNTNAP1
        Neurofascin interactions


    1 Kegg Pathway  (Kegg details for CNTNAP1):
        Cell adhesion molecules (CAMs)


    CNTNAP1 for pathways           About GeneDecksing

        Custom Pathway & Disease-focused RT2 Profiler PCR Arrays for CNTNAP1
    Interactions:

        GeneGlobe Interaction Network for CNTNAP1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 16)

    Selected Interacting proteins for CNTNAP1 (P783571, 2, 3 ENSP000002646384) via UniProtKB, MINT, STRING, and/or I2D (see all 18)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    FYNP062412, 3, ENSP000003576564MINT-8111055 I2D: score=4 STRING: ENSP00000357656
    ABL1P005192, 3, ENSP000003614234MINT-8110155 I2D: score=3 STRING: ENSP00000361423
    NCK1P163331, 3, ENSP000002889864EBI-1751903,EBI-389883 I2D: score=2 STRING: ENSP00000288986
    CRKP461083, ENSP000003005744I2D: score=2 STRING: ENSP00000300574
    RHOAP615863, ENSP000004001754I2D: score=2 STRING: ENSP00000400175
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 14):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0002175protein localization to paranode region of axon ISS--
    GO:0007010cytoskeleton organization ISS--
    GO:0007155cell adhesion IEA--
    GO:0007165signal transduction TAS9118959
    GO:0007268synaptic transmission ----

    CNTNAP1 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 CNTNAP1 (CNTP1)

    4 Novoseek inferred chemical compound relationships for CNTNAP1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    sodium 41.1 3 11588184 (1), 18342527 (1), 12401452 (1)
    potassium 23.1 3 10664064 (1), 11512672 (1), 12401452 (1)
    phosphatidylinositol 16.2 2 11069942 (1)
    tyrosine 1.98 6 9417037 (4), 8524223 (1)



    CNTNAP1 for compounds           About GeneDecksing



    (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 CNTNAP1 gene: 
    NM_003632.2  

    Unigene Cluster for CNTNAP1:

    Contactin associated protein 1
    Hs.408730  [show with all ESTs]
    Unigene Representative Sequence: NM_003632
    4 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000264638(uc002iay.3 uc010wgs.2) ENST00000591662 ENST00000586801
    ENST00000585534
    miRNA
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    Selected qRT-PCR Assays for microRNAs that regulate CNTNAP1 (see all 42):
    hsa-miR-15a hsa-miR-503 hsa-miR-3921 hsa-miR-449a hsa-miR-424 hsa-miR-3613-3p hsa-miR-186 hsa-miR-15b
    SwitchGear 3'UTR luciferase reporter plasmidCNTNAP1 3' UTR sequence
    Inhib. RNA
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    Primer
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      QuantiTect SYBR Green Assays in human, mouse, rat CNTNAP1
      QuantiFast Probe-based Assays in human, mouse, rat CNTNAP1

    Additional mRNA sequence: 

    BC171797.1 U87223.1 

    5 DOTS entries:

    DT.443400  DT.95089021  DT.40131474  DT.97776246  DT.99935181 

    Selected AceView cDNA sequences (see all 88):

    BU726587 AI149166 BM551800 CD617291 AI313414 AI126334 AA325604 U87223 
    AL706048 BU170662 BQ718897 NM_003632 CD617298 BU729460 BI870193 BM719221 
    BU632710 BQ723531 AW952368 AI085318 BE934052 BX452235 BI758272 AW241716 

    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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    CNTNAP1 expression in normal human tissues (normalized intensities)
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGAACCCTC
    CNTNAP1 Expression
    About this image


    CNTNAP1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 4) fully expand
     
     Brain (Nervous System)    fully expand to see all 17 entries
             Thalamus
             Septum   
     
     Blood (Hematopoietic System)    fully expand to see all 2 entries
             Peripheral blood-derived hematopoietic stem cells
     
     Eye (Sensory Organs)
             Retina
     
     Larynx (Respiratory System)
    CNTNAP1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    CNTNAP1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.408730

    UniProtKB/Swiss-Prot: CNTP1_HUMAN, P78357
    Tissue specificity: Predominantly expressed in brain. Weak expression detected in ovary, pancreas, colon, lung,
    heart, intestine and testis

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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CNTNAP1

    (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 CNTNAP1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Cntnap11 , 5 contactin associated protein-like 11, 5 87.93(n)1
    93.35(a)1
      11 (64.33 cM)5
    533211  NM_016782.21  NP_058062.21 
     1011705235 
    chicken
    (Gallus gallus)
    Aves CNTNAP11 contactin associated protein 1 70.22(n)
    66.98(a)
      428309  XM_003642826.2  XP_003642874.2 
    lizard
    (Anolis carolinensis)
    Reptilia CNTNAP16
    contactin associated protein 1
    60(a)
    1 ↔ 1
    6(61899126-61940516)
    tropical clawed frog
    (Xenopus tropicalis)
    Amphibia cntnap11 contactin associated protein 1 60.74(n)
    59(a)
      100037844  NM_001097290.1  NP_001090759.1 
    zebrafish
    (Danio rerio)
    Actinopterygii LOC5662201 contactin-associated protein 1-like 57.55(n)
    51.96(a)
      566220  XM_689488.5  XP_694580.5 
    fruit fly
    (Drosophila melanogaster)
    Insecta Nrx3 dorsal closure transmembrane receptor 29(a)     --
    worm
    (Caenorhabditis elegans)
    Secernentea nlr-16
    Protein NLR-1 (nlr-1) mRNA, complete cds
    22(a)
    1 ↔ 1
    IV(12170834-12178335) WBGene00003772


    ENSEMBL Gene Tree for CNTNAP1 (if available)
    TreeFam Gene Tree for CNTNAP1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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    Paralogs for CNTNAP1 gene
    ENSG000002360292  NRXN32  CNTNAP52  CNTNAP3B2  NRXN22  CNTNAP32  CNTNAP22  CNTNAP42  
    NRXN12  
    9 SIMAP similar genes for CNTNAP1 using alignment to 3 protein entries:     CNTP1_HUMAN (see all proteins):
    CNTNAP2    CASPR4    CNTNAP4    CNTNAP5    CNTNAP3    CNTNAP3B
    EGFLAM    SHBG    WUGSC

    CNTNAP1 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 CNTNAP1 (see all 455)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 17 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    rs1909124961,2
    --40835896(+) CTCCTA/CCTACT 2 Y S mis10--------
    rs22710291,2
    C,F,O,A,H--40835922(+) CGCCGC/AGATTC 2 /R syn1 ese332Minor allele frequency- A:0.41NA NS EA WA CSA EU 8429
    rs1395033911,2
    C--40836028(+) TAGCCG/TGTTAA 1 -- int10--------
    rs1155525831,2
    C,F--40836211(+) GTGGAC/TAGCTG 2 D syn11Minor allele frequency- T:0.01NA 4552
    rs2011280631,2
    C--40836258(+) CTGGGC/AGCCAA 1 -- int11Minor allele frequency- A:0.00EU 629
    rs1148715541,2
    C--40836262(+) GCGCCA/CAGGCG 1 -- int12Minor allele frequency- C:0.02WA EU 735
    rs65037181,2
    C--40836374(+) CTCCAC/TTCCAG 1 -- int113Minor allele frequency- T:0.01NA WA CSA EA 377
    rs728269621,2
    C--40836389(+) TCTGTC/TCAGAG 1 -- int10--------
    rs72238281,2
    C,F--40836452(+) ACTTTA/GGGGTA 1 -- int12Minor allele frequency- G:0.13WA 120
    rs1828123461,2
    --40836482(+) AAGGAA/GGTGAC 1 -- int10--------

    HapMap Linkage Disequilibrium report for CNTNAP1 (40834631 - 40852011 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 3 variations for CNTNAP1:    About this table    
    Variant IDTypeSubtypePubMed ID
    esv1007587CNV Deletion20482838
    nsv833450CNV Loss17160897
    esv33998OTHER Inversion15654335

    Human Gene Mutation Database (HGMD): CNTNAP1
    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing CNTNAP1
    DNA2.0 Custom Variant and Variant Library Synthesis for CNTNAP1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 602346    OMIM disorders: --

    15 diseases for CNTNAP1:    
    About MalaCards
    juvenile astrocytoma    inherited peripheral neuropathy    peripheral neuropathy    astrocytoma
    childhood leukemia    encephalomyelitis    neuropathy    meningioma
    multiple sclerosis    neuronitis    obesity    retinitis
    cerebritis    breast cancer    leukemia


    CNTNAP1 for disorders           About GeneDecksing

    1 Novoseek inferred disease relationship for CNTNAP1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    demyelination 41.1 2 12805111 (1)

    Genetic Association Database (GAD): CNTNAP1
    Human Genome Epidemiology (HuGE) Navigator: CNTNAP1 (6 documents)

    Export disorders for CNTNAP1 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 CNTNAP1 gene, integrated from 10 sources (see all 54):
    (articles sorted by number of sources associating them with CNTNAP1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions. (PubMed id 9118959)1, 2, 3 Peles E.... Schlessinger J. (EMBO J. 1997)
    2. Risk of meningioma and common variation in genes related to innate immunity. (PubMed id 20406964)1, 4 Rajaraman P....Inskip P.D. (amp 2010)
    3. Polymorphisms in innate immunity genes and risk of childhood leukemia. (PubMed id 20438785)1, 4 Han S....Kang D. (Hum. Immunol. 2010)
    4. Identification of new putative susceptibility genes for several psychiatric disorders by association analysis of regulatory and non-synonymous SNPs of 306 genes involved in neurotransmission and neurodevelopment. (PubMed id 19086053)1, 4 GratacA^s M....Carracedo A. (Am. J. Med. Genet. B Neuropsychiatr. Genet. 2009)
    5. Candidate gene approach evaluates association between innate immunity genes and breast cancer risk in Korean women. (PubMed id 19372141)1, 4 Lee J.Y....Kang D. (Carcinogenesis 2009)
    6. Caspr1/Paranodin/Neurexin IV is most likely not a common disease-causing gene for inherited peripheral neuropathies. (PubMed id 11496158)1, 9 Venken K....Timmerman V. (Neuroreport 2001)
    7. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    8. Gene-environment interactions and obesity traits among postmenopausal African-American and Hispanic women in the Women's Health Initiative SHARe Study. (PubMed id 23192594)1 Velez Edwards D.R....Edwards T.L. (Hum. Genet. 2013)
    9. Identification of novel I^-secretase-associated proteins in detergent-resistant membranes from brain. (PubMed id 22315232)1 Hur J.Y....Tjernberg L.O. (J. Biol. Chem. 2012)
    10. Global landscape of HIV-human protein complexes. (PubMed id 22190034)1 JAoger S....Krogan N.J. (Nature 2012)

    (in PubMed, OMIM, and NCBI Bookshelf)
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     ANDOR
    Aliases
    Disorders
    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)
    About This Section

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    Entrez Gene: 8506 HGNC: 8011 AceView: CNTNAP1 Ensembl:ENSG00000108797 euGenes: HUgn8506
    ECgene: CNTNAP1 Kegg: 8506 H-InvDB: CNTNAP1

    (According to HUGE)
    About This Section

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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)
    About This Section

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    NameDescription
    PharmGKB entry for CNTNAP1 Pharmacogenomics, SNPs, Pathways

    (Patent information from GeneIP,
    Licensable technologies from WIS Yeda, Salk, Tufts,
    IP news from LifeMap Sciences, Inc.)
    About This Section

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    Patent Information for CNTNAP1 gene:
    Search GeneIP for patents involving CNTNAP1

    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
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