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CRYBA1 (crystallin, beta A1)

Identity

Alias_namesCRYB1
crystallin, beta A1
Other aliasCTRCT10
HGNC (Hugo) CRYBA1
LocusID (NCBI) 1411
Atlas_Id 62101
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 27573875 and ends at 27581502 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
CRYBA1 (17q11.2) / CCDC152 (5p12)PRKCA (17q24.2) / CRYBA1 (17q11.2)

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)CRYBA1   2394
Cards
Entrez_Gene (NCBI)CRYBA1  1411  crystallin, beta A1
AliasesCRYB1; CTRCT10
GeneCards (Weizmann)CRYBA1
Ensembl hg19 (Hinxton)ENSG00000108255 [Gene_View]  chr17:27573875-27581502 [Contig_View]  CRYBA1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000108255 [Gene_View]  chr17:27573875-27581502 [Contig_View]  CRYBA1 [Vega]
ICGC DataPortalENSG00000108255
TCGA cBioPortalCRYBA1
AceView (NCBI)CRYBA1
Genatlas (Paris)CRYBA1
WikiGenes1411
SOURCE (Princeton)CRYBA1
Genetics Home Reference (NIH)CRYBA1
Genomic and cartography
GoldenPath hg19 (UCSC)CRYBA1  -     chr17:27573875-27581502 +  17q11.2   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CRYBA1  -     17q11.2   [Description]    (hg38-Dec_2013)
EnsemblCRYBA1 - 17q11.2 [CytoView hg19]  CRYBA1 - 17q11.2 [CytoView hg38]
Mapping of homologs : NCBICRYBA1 [Mapview hg19]  CRYBA1 [Mapview hg38]
OMIM123610   600881   
Gene and transcription
Genbank (Entrez)BC069537 BC113693 BU735083 HQ258110 HQ448459
RefSeq transcript (Entrez)NM_005208
RefSeq genomic (Entrez)NC_000017 NC_018928 NG_008037 NT_010783 NW_004929407
Consensus coding sequences : CCDS (NCBI)CRYBA1
Cluster EST : UnigeneHs.46275 [ NCBI ]
CGAP (NCI)Hs.46275
Alternative Splicing GalleryENSG00000108255
Gene ExpressionCRYBA1 [ NCBI-GEO ]   CRYBA1 [ EBI - ARRAY_EXPRESS ]   CRYBA1 [ SEEK ]   CRYBA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYBA1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1411
GTEX Portal (Tissue expression)CRYBA1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP05813   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP05813  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP05813
Splice isoforms : SwissVarP05813
PhosPhoSitePlusP05813
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)   
Domains : Interpro (EBI)Beta/gamma_crystallin    G_crystallin-rel   
Domain families : Pfam (Sanger)Crystall (PF00030)   
Domain families : Pfam (NCBI)pfam00030   
Domain families : Smart (EMBL)XTALbg (SM00247)  
Conserved Domain (NCBI)CRYBA1
DMDM Disease mutations1411
Blocks (Seattle)CRYBA1
SuperfamilyP05813
Human Protein AtlasENSG00000108255
Peptide AtlasP05813
HPRD00429
IPIIPI00010847   IPI00759496   
Protein Interaction databases
DIP (DOE-UCLA)P05813
IntAct (EBI)P05813
FunCoupENSG00000108255
BioGRIDCRYBA1
STRING (EMBL)CRYBA1
ZODIACCRYBA1
Ontologies - Pathways
QuickGOP05813
Ontology : AmiGOlens development in camera-type eye  molecular_function  structural constituent of eye lens  protein binding  nucleus  cytoplasm  visual perception  visual perception  protein homodimerization activity  
Ontology : EGO-EBIlens development in camera-type eye  molecular_function  structural constituent of eye lens  protein binding  nucleus  cytoplasm  visual perception  visual perception  protein homodimerization activity  
NDEx NetworkCRYBA1
Atlas of Cancer Signalling NetworkCRYBA1
Wikipedia pathwaysCRYBA1
Orthology - Evolution
OrthoDB1411
GeneTree (enSembl)ENSG00000108255
Phylogenetic Trees/Animal Genes : TreeFamCRYBA1
HOVERGENP05813
HOGENOMP05813
Homologs : HomoloGeneCRYBA1
Homology/Alignments : Family Browser (UCSC)CRYBA1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYBA1
dbVarCRYBA1
ClinVarCRYBA1
1000_GenomesCRYBA1 
Exome Variant ServerCRYBA1
ExAC (Exome Aggregation Consortium)CRYBA1 (select the gene name)
Genetic variants : HAPMAP1411
Genomic Variants (DGV)CRYBA1 [DGVbeta]
DECIPHER (Syndromes)17:27573875-27581502  ENSG00000108255
CONAN: Copy Number AnalysisCRYBA1 
Mutations
ICGC Data PortalCRYBA1 
TCGA Data PortalCRYBA1 
Broad Tumor PortalCRYBA1
OASIS PortalCRYBA1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYBA1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYBA1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch CRYBA1
DgiDB (Drug Gene Interaction Database)CRYBA1
DoCM (Curated mutations)CRYBA1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYBA1 (select a term)
intoGenCRYBA1
Cancer3DCRYBA1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123610    600881   
Orphanet23423    14002    14008    14010   
MedgenCRYBA1
Genetic Testing Registry CRYBA1
NextProtP05813 [Medical]
TSGene1411
GENETestsCRYBA1
Huge Navigator CRYBA1 [HugePedia]
snp3D : Map Gene to Disease1411
BioCentury BCIQCRYBA1
ClinGenCRYBA1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1411
Chemical/Pharm GKB GenePA26908
Clinical trialCRYBA1
Miscellaneous
canSAR (ICR)CRYBA1 (select the gene name)
Probes
Litterature
PubMed43 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYBA1
EVEXCRYBA1
GoPubMedCRYBA1
iHOPCRYBA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 12:00:22 CET 2017

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