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CACHD1 (cache domain containing 1)

Identity

Alias_namesVWCD1
von Willebrand factor type A and cache domain containing 1
Alias_symbol (synonym)KIAA1573
Other alias-
HGNC (Hugo) CACHD1
LocusID (NCBI) 57685
Atlas_Id 61354
Location 1p31.3  [Link to chromosome band 1p31]
Location_base_pair Starts at 64971597 and ends at 65158741 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CACHD1 (1p31.3) / CLIC4 (1p36.11)CACHD1 (1p31.3) / ROR1 (1p31.3)CNN3 (1p21.3) / CACHD1 (1p31.3)
PATJ (1p31.3) / CACHD1 (1p31.3)CACHD1 CLIC4CACHD1 ROR1
INADL CACHD1CNN3 CACHD1

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)CACHD1   29314
Cards
Entrez_Gene (NCBI)CACHD1  57685  cache domain containing 1
Aliases
GeneCards (Weizmann)CACHD1
Ensembl hg19 (Hinxton)ENSG00000158966 [Gene_View]  chr1:64971597-65158741 [Contig_View]  CACHD1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000158966 [Gene_View]  chr1:64971597-65158741 [Contig_View]  CACHD1 [Vega]
ICGC DataPortalENSG00000158966
TCGA cBioPortalCACHD1
AceView (NCBI)CACHD1
Genatlas (Paris)CACHD1
WikiGenes57685
SOURCE (Princeton)CACHD1
Genetics Home Reference (NIH)CACHD1
Genomic and cartography
GoldenPath hg19 (UCSC)CACHD1  -     chr1:64971597-65158741 +  1p31.3   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CACHD1  -     1p31.3   [Description]    (hg38-Dec_2013)
EnsemblCACHD1 - 1p31.3 [CytoView hg19]  CACHD1 - 1p31.3 [CytoView hg38]
Mapping of homologs : NCBICACHD1 [Mapview hg19]  CACHD1 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AB046793 AK022571 AK024256 AK026777 AK126515
RefSeq transcript (Entrez)NM_001293274 NM_020925
RefSeq genomic (Entrez)NC_000001 NC_018912 NT_032977 NW_004929290
Consensus coding sequences : CCDS (NCBI)CACHD1
Cluster EST : UnigeneHs.443891 [ NCBI ]
CGAP (NCI)Hs.443891
Alternative Splicing GalleryENSG00000158966
Gene ExpressionCACHD1 [ NCBI-GEO ]   CACHD1 [ EBI - ARRAY_EXPRESS ]   CACHD1 [ SEEK ]   CACHD1 [ MEM ]
Gene Expression Viewer (FireBrowse)CACHD1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57685
GTEX Portal (Tissue expression)CACHD1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ5VU97   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ5VU97  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ5VU97
Splice isoforms : SwissVarQ5VU97
PhosPhoSitePlusQ5VU97
Domaine pattern : Prosite (Expaxy)VWFA (PS50234)   
Domains : Interpro (EBI)Cache_domain    Sensor-like    VWA_N    VWF_A   
Domain families : Pfam (Sanger)Cache_1 (PF02743)    VWA_N (PF08399)   
Domain families : Pfam (NCBI)pfam02743    pfam08399   
Domain families : Smart (EMBL)VWA (SM00327)  
Conserved Domain (NCBI)CACHD1
DMDM Disease mutations57685
Blocks (Seattle)CACHD1
SuperfamilyQ5VU97
Human Protein AtlasENSG00000158966
Peptide AtlasQ5VU97
HPRD13874
IPIIPI00289083   IPI00396062   
Protein Interaction databases
DIP (DOE-UCLA)Q5VU97
IntAct (EBI)Q5VU97
FunCoupENSG00000158966
BioGRIDCACHD1
STRING (EMBL)CACHD1
ZODIACCACHD1
Ontologies - Pathways
QuickGOQ5VU97
Ontology : AmiGOcalcium ion transport  integral component of membrane  
Ontology : EGO-EBIcalcium ion transport  integral component of membrane  
NDEx NetworkCACHD1
Atlas of Cancer Signalling NetworkCACHD1
Wikipedia pathwaysCACHD1
Orthology - Evolution
OrthoDB57685
GeneTree (enSembl)ENSG00000158966
Phylogenetic Trees/Animal Genes : TreeFamCACHD1
HOVERGENQ5VU97
HOGENOMQ5VU97
Homologs : HomoloGeneCACHD1
Homology/Alignments : Family Browser (UCSC)CACHD1
Gene fusions - Rearrangements
Fusion: TCGACACHD1 CLIC4
Fusion: TCGACACHD1 ROR1
Fusion: TCGAINADL CACHD1
Fusion: TCGACNN3 CACHD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCACHD1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CACHD1
dbVarCACHD1
ClinVarCACHD1
1000_GenomesCACHD1 
Exome Variant ServerCACHD1
ExAC (Exome Aggregation Consortium)CACHD1 (select the gene name)
Genetic variants : HAPMAP57685
Genomic Variants (DGV)CACHD1 [DGVbeta]
DECIPHER (Syndromes)1:64971597-65158741  ENSG00000158966
CONAN: Copy Number AnalysisCACHD1 
Mutations
ICGC Data PortalCACHD1 
TCGA Data PortalCACHD1 
Broad Tumor PortalCACHD1
OASIS PortalCACHD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCACHD1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCACHD1
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 CACHD1
DgiDB (Drug Gene Interaction Database)CACHD1
DoCM (Curated mutations)CACHD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CACHD1 (select a term)
intoGenCACHD1
Cancer3DCACHD1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCACHD1
Genetic Testing Registry CACHD1
NextProtQ5VU97 [Medical]
TSGene57685
GENETestsCACHD1
Huge Navigator CACHD1 [HugePedia]
snp3D : Map Gene to Disease57685
BioCentury BCIQCACHD1
ClinGenCACHD1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57685
Chemical/Pharm GKB GenePA142672211
Clinical trialCACHD1
Miscellaneous
canSAR (ICR)CACHD1 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCACHD1
EVEXCACHD1
GoPubMedCACHD1
iHOPCACHD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Tue Mar 14 11:57:54 CET 2017

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