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PCDHAC1 (protocadherin alpha subfamily C, 1)

Identity

Other aliasPCDH-ALPHA-C1
HGNC (Hugo) PCDHAC1
LocusID (NCBI) 56135
Atlas_Id 71717
Location 5q31.3  [Link to chromosome band 5q31]
Location_base_pair Starts at 140926717 and ends at 141012344 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)PCDHAC1   8676
Cards
Entrez_Gene (NCBI)PCDHAC1  56135  protocadherin alpha subfamily C, 1
AliasesPCDH-ALPHA-C1
GeneCards (Weizmann)PCDHAC1
Ensembl hg19 (Hinxton)ENSG00000248383 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000248383 [Gene_View]  chr5:140926717-141012344 [Contig_View]  PCDHAC1 [Vega]
ICGC DataPortalENSG00000248383
TCGA cBioPortalPCDHAC1
AceView (NCBI)PCDHAC1
Genatlas (Paris)PCDHAC1
WikiGenes56135
SOURCE (Princeton)PCDHAC1
Genetics Home Reference (NIH)PCDHAC1
Genomic and cartography
GoldenPath hg38 (UCSC)PCDHAC1  -     chr5:140926717-141012344 +  5q31.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PCDHAC1  -     5q31.3   [Description]    (hg19-Feb_2009)
EnsemblPCDHAC1 - 5q31.3 [CytoView hg19]  PCDHAC1 - 5q31.3 [CytoView hg38]
Mapping of homologs : NCBIPCDHAC1 [Mapview hg19]  PCDHAC1 [Mapview hg38]
OMIM606320   
Gene and transcription
Genbank (Entrez)AA601497 AF152303 AF152473 AJ007608 AW152471
RefSeq transcript (Entrez)NM_018898 NM_031882
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PCDHAC1
Cluster EST : UnigeneHs.199343 [ NCBI ]
CGAP (NCI)Hs.199343
Alternative Splicing GalleryENSG00000248383
Gene ExpressionPCDHAC1 [ NCBI-GEO ]   PCDHAC1 [ EBI - ARRAY_EXPRESS ]   PCDHAC1 [ SEEK ]   PCDHAC1 [ MEM ]
Gene Expression Viewer (FireBrowse)PCDHAC1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)56135
GTEX Portal (Tissue expression)PCDHAC1
Human Protein AtlasENSG00000248383-PCDHAC1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9H158   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9H158  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9H158
Splice isoforms : SwissVarQ9H158
PhosPhoSitePlusQ9H158
Domaine pattern : Prosite (Expaxy)CADHERIN_1 (PS00232)    CADHERIN_2 (PS50268)   
Domains : Interpro (EBI)Cadherin    Cadherin-like    Cadherin_C    Cadherin_CBD    Cadherin_CS    Cadherin_N    PCDHAC1   
Domain families : Pfam (Sanger)Cadherin (PF00028)    Cadherin_2 (PF08266)    Cadherin_C_2 (PF16492)    Cadherin_tail (PF15974)   
Domain families : Pfam (NCBI)pfam00028    pfam08266    pfam16492    pfam15974   
Domain families : Smart (EMBL)CA (SM00112)  
Conserved Domain (NCBI)PCDHAC1
DMDM Disease mutations56135
Blocks (Seattle)PCDHAC1
SuperfamilyQ9H158
Human Protein Atlas [tissue]ENSG00000248383-PCDHAC1 [tissue]
Peptide AtlasQ9H158
HPRD07555
IPIIPI00299664   IPI00219647   
Protein Interaction databases
DIP (DOE-UCLA)Q9H158
IntAct (EBI)Q9H158
FunCoupENSG00000248383
BioGRIDPCDHAC1
STRING (EMBL)PCDHAC1
ZODIACPCDHAC1
Ontologies - Pathways
QuickGOQ9H158
Ontology : AmiGOcalcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  
Ontology : EGO-EBIcalcium ion binding  integral component of plasma membrane  cell adhesion  homophilic cell adhesion via plasma membrane adhesion molecules  cell-cell signaling  nervous system development  
NDEx NetworkPCDHAC1
Atlas of Cancer Signalling NetworkPCDHAC1
Wikipedia pathwaysPCDHAC1
Orthology - Evolution
OrthoDB56135
GeneTree (enSembl)ENSG00000248383
Phylogenetic Trees/Animal Genes : TreeFamPCDHAC1
HOVERGENQ9H158
HOGENOMQ9H158
Homologs : HomoloGenePCDHAC1
Homology/Alignments : Family Browser (UCSC)PCDHAC1
Gene fusions - Rearrangements
Tumor Fusion PortalPCDHAC1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPCDHAC1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)PCDHAC1
dbVarPCDHAC1
ClinVarPCDHAC1
1000_GenomesPCDHAC1 
Exome Variant ServerPCDHAC1
ExAC (Exome Aggregation Consortium)ENSG00000248383
GNOMAD BrowserENSG00000248383
Genetic variants : HAPMAP56135
Genomic Variants (DGV)PCDHAC1 [DGVbeta]
DECIPHERPCDHAC1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPCDHAC1 
Mutations
ICGC Data PortalPCDHAC1 
TCGA Data PortalPCDHAC1 
Broad Tumor PortalPCDHAC1
OASIS PortalPCDHAC1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPCDHAC1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDPCDHAC1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch PCDHAC1
DgiDB (Drug Gene Interaction Database)PCDHAC1
DoCM (Curated mutations)PCDHAC1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PCDHAC1 (select a term)
intoGenPCDHAC1
Cancer3DPCDHAC1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM606320   
Orphanet
DisGeNETPCDHAC1
MedgenPCDHAC1
Genetic Testing Registry PCDHAC1
NextProtQ9H158 [Medical]
TSGene56135
GENETestsPCDHAC1
Target ValidationPCDHAC1
Huge Navigator PCDHAC1 [HugePedia]
snp3D : Map Gene to Disease56135
BioCentury BCIQPCDHAC1
ClinGenPCDHAC1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD56135
Chemical/Pharm GKB GenePA33022
Clinical trialPCDHAC1
Miscellaneous
canSAR (ICR)PCDHAC1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePCDHAC1
EVEXPCDHAC1
GoPubMedPCDHAC1
iHOPPCDHAC1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 21 13:12:42 CET 2017

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