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CASS4 (Cas scaffolding protein family member 4)

Identity

Alias_namesC20orf32
chromosome 20 open reading frame 32
Alias_symbol (synonym)HEFL
HEPL
Other aliasCAS4
HGNC (Hugo) CASS4
LocusID (NCBI) 57091
Atlas_Id 53239
Location 20q13.31  [Link to chromosome band 20q13]
Location_base_pair Starts at 56412258 and ends at 56459340 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
CASS4 (20q13.2) / BOLA2 (16p11.2)CASS4 (20q13.2) / CAPS2 (12q21.1)VAPB (20q13.32) / CASS4 (20q13.2)
VAPB 20q13.32 / CASS4 20q13.2

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)CASS4   15878
Cards
Entrez_Gene (NCBI)CASS4  57091  Cas scaffolding protein family member 4
AliasesC20orf32; CAS4; HEFL; HEPL
GeneCards (Weizmann)CASS4
Ensembl hg19 (Hinxton)ENSG00000087589 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000087589 [Gene_View]  chr20:56412258-56459340 [Contig_View]  CASS4 [Vega]
ICGC DataPortalENSG00000087589
TCGA cBioPortalCASS4
AceView (NCBI)CASS4
Genatlas (Paris)CASS4
WikiGenes57091
SOURCE (Princeton)CASS4
Genetics Home Reference (NIH)CASS4
Genomic and cartography
GoldenPath hg38 (UCSC)CASS4  -     chr20:56412258-56459340 +  20q13.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CASS4  -     20q13.31   [Description]    (hg19-Feb_2009)
EnsemblCASS4 - 20q13.31 [CytoView hg19]  CASS4 - 20q13.31 [CytoView hg38]
Mapping of homologs : NCBICASS4 [Mapview hg19]  CASS4 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AJ276678 AK027760 AK295613 AK308057 AK314653
RefSeq transcript (Entrez)NM_001164114 NM_001164115 NM_001164116 NM_020356
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CASS4
Cluster EST : UnigeneHs.473144 [ NCBI ]
CGAP (NCI)Hs.473144
Alternative Splicing GalleryENSG00000087589
Gene ExpressionCASS4 [ NCBI-GEO ]   CASS4 [ EBI - ARRAY_EXPRESS ]   CASS4 [ SEEK ]   CASS4 [ MEM ]
Gene Expression Viewer (FireBrowse)CASS4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)57091
GTEX Portal (Tissue expression)CASS4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NQ75   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NQ75  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NQ75
Splice isoforms : SwissVarQ9NQ75
PhosPhoSitePlusQ9NQ75
Domaine pattern : Prosite (Expaxy)SH3 (PS50002)   
Domains : Interpro (EBI)CAS_DUF3513    Serine_rich    SH3_domain   
Domain families : Pfam (Sanger)DUF3513 (PF12026)    Serine_rich (PF08824)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam12026    pfam08824    pfam14604   
Domain families : Smart (EMBL)SH3 (SM00326)  
Conserved Domain (NCBI)CASS4
DMDM Disease mutations57091
Blocks (Seattle)CASS4
PDB (SRS)2CRE   
PDB (PDBSum)2CRE   
PDB (IMB)2CRE   
PDB (RSDB)2CRE   
Structural Biology KnowledgeBase2CRE   
SCOP (Structural Classification of Proteins)2CRE   
CATH (Classification of proteins structures)2CRE   
SuperfamilyQ9NQ75
Human Protein AtlasENSG00000087589
Peptide AtlasQ9NQ75
HPRD09842
IPIIPI00160340   IPI00220358   IPI00220359   IPI00908960   
Protein Interaction databases
DIP (DOE-UCLA)Q9NQ75
IntAct (EBI)Q9NQ75
FunCoupENSG00000087589
BioGRIDCASS4
STRING (EMBL)CASS4
ZODIACCASS4
Ontologies - Pathways
QuickGOQ9NQ75
Ontology : AmiGOcytoplasm  cytoskeleton  focal adhesion  cell adhesion  
Ontology : EGO-EBIcytoplasm  cytoskeleton  focal adhesion  cell adhesion  
NDEx NetworkCASS4
Atlas of Cancer Signalling NetworkCASS4
Wikipedia pathwaysCASS4
Orthology - Evolution
OrthoDB57091
GeneTree (enSembl)ENSG00000087589
Phylogenetic Trees/Animal Genes : TreeFamCASS4
HOVERGENQ9NQ75
HOGENOMQ9NQ75
Homologs : HomoloGeneCASS4
Homology/Alignments : Family Browser (UCSC)CASS4
Gene fusions - Rearrangements
Fusion : MitelmanCASS4/CAPS2 [20q13.2/12q21.1]  
Fusion : MitelmanVAPB/CASS4 [20q13.32/20q13.2]  [t(20;20)(q13;q13)]  
Fusion: TCGAVAPB 20q13.32 CASS4 20q13.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCASS4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CASS4
dbVarCASS4
ClinVarCASS4
1000_GenomesCASS4 
Exome Variant ServerCASS4
ExAC (Exome Aggregation Consortium)CASS4 (select the gene name)
Genetic variants : HAPMAP57091
Genomic Variants (DGV)CASS4 [DGVbeta]
DECIPHERCASS4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCASS4 
Mutations
ICGC Data PortalCASS4 
TCGA Data PortalCASS4 
Broad Tumor PortalCASS4
OASIS PortalCASS4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCASS4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCASS4
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 CASS4
DgiDB (Drug Gene Interaction Database)CASS4
DoCM (Curated mutations)CASS4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CASS4 (select a term)
intoGenCASS4
Cancer3DCASS4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCASS4
Genetic Testing Registry CASS4
NextProtQ9NQ75 [Medical]
TSGene57091
GENETestsCASS4
Target ValidationCASS4
Huge Navigator CASS4 [HugePedia]
snp3D : Map Gene to Disease57091
BioCentury BCIQCASS4
ClinGenCASS4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD57091
Chemical/Pharm GKB GenePA162381095
Clinical trialCASS4
Miscellaneous
canSAR (ICR)CASS4 (select the gene name)
Probes
Litterature
PubMed13 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCASS4
EVEXCASS4
GoPubMedCASS4
iHOPCASS4
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Aug 1 16:56:52 CEST 2017

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