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CRYBA1 (crystallin beta A1)

Identity

Alias (NCBI)CRYB1
CTRCT10
HGNC (Hugo) CRYBA1
HGNC Alias nameeye lens structural protein
HGNC Previous nameCRYB1
HGNC Previous namecrystallin, beta A1
LocusID (NCBI) 1411
Atlas_Id 62101
Location 17q11.2  [Link to chromosome band 17q11]
Location_base_pair Starts at 29246857 and ends at 29254484 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)
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    crystallin beta A1
AliasesCRYB1; CTRCT10
GeneCards (Weizmann)CRYBA1
Ensembl hg19 (Hinxton)ENSG00000108255 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108255 [Gene_View]  ENSG00000108255 [Sequence]  chr17:29246857-29254484 [Contig_View]  CRYBA1 [Vega]
ICGC DataPortalENSG00000108255
TCGA cBioPortalCRYBA1
AceView (NCBI)CRYBA1
Genatlas (Paris)CRYBA1
SOURCE (Princeton)CRYBA1
Genetics Home Reference (NIH)CRYBA1
Genomic and cartography
GoldenPath hg38 (UCSC)CRYBA1  -     chr17:29246857-29254484 +  17q11.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYBA1  -     17q11.2   [Description]    (hg19-Feb_2009)
GoldenPathCRYBA1 - 17q11.2 [CytoView hg19]  CRYBA1 - 17q11.2 [CytoView hg38]
ImmunoBaseENSG00000108255
Genome Data Viewer NCBICRYBA1 [Mapview hg19]  
OMIM123610   600881   
Gene and transcription
Genbank (Entrez)BC069537 BC113693 BU735083 KM230602 KM230603
RefSeq transcript (Entrez)NM_005208
Consensus coding sequences : CCDS (NCBI)CRYBA1
Gene ExpressionCRYBA1 [ NCBI-GEO ]   CRYBA1 [ EBI - ARRAY_EXPRESS ]   CRYBA1 [ SEEK ]   CRYBA1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYBA1 [ Firebrowse - Broad ]
GenevisibleExpression of CRYBA1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1411
GTEX Portal (Tissue expression)CRYBA1
Human Protein AtlasENSG00000108255-CRYBA1 [pathology]   [cell]   [tissue]
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
PhosPhoSitePlusP05813
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)   
Domains : Interpro (EBI)Beta/gamma_crystallin    G_crystallin-like   
Domain families : Pfam (Sanger)Crystall (PF00030)   
Domain families : Pfam (NCBI)pfam00030   
Domain families : Smart (EMBL)XTALbg (SM00247)  
Conserved Domain (NCBI)CRYBA1
SuperfamilyP05813
AlphaFold pdb e-kbP05813   
Human Protein Atlas [tissue]ENSG00000108255-CRYBA1 [tissue]
HPRD00429
Protein Interaction databases
DIP (DOE-UCLA)P05813
IntAct (EBI)P05813
BioGRIDCRYBA1
STRING (EMBL)CRYBA1
ZODIACCRYBA1
Ontologies - Pathways
QuickGOP05813
Ontology : AmiGOnegative regulation of cytokine production  lens development in camera-type eye  molecular_function  structural constituent of eye lens  protein binding  nucleus  cytoplasm  visual perception  visual perception  negative regulation of phosphatidylinositol 3-kinase signaling  negative regulation of TOR signaling  negative regulation of protein kinase B signaling  negative regulation of ERK1 and ERK2 cascade  positive regulation of anoikis  
Ontology : EGO-EBInegative regulation of cytokine production  lens development in camera-type eye  molecular_function  structural constituent of eye lens  protein binding  nucleus  cytoplasm  visual perception  visual perception  negative regulation of phosphatidylinositol 3-kinase signaling  negative regulation of TOR signaling  negative regulation of protein kinase B signaling  negative regulation of ERK1 and ERK2 cascade  positive regulation of anoikis  
NDEx NetworkCRYBA1
Atlas of Cancer Signalling NetworkCRYBA1
Wikipedia pathwaysCRYBA1
Orthology - Evolution
OrthoDB1411
GeneTree (enSembl)ENSG00000108255
Phylogenetic Trees/Animal Genes : TreeFamCRYBA1
Homologs : HomoloGeneCRYBA1
Homology/Alignments : Family Browser (UCSC)CRYBA1
Gene fusions - Rearrangements
Fusion : QuiverCRYBA1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYBA1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYBA1
dbVarCRYBA1
ClinVarCRYBA1
MonarchCRYBA1
1000_GenomesCRYBA1 
Exome Variant ServerCRYBA1
GNOMAD BrowserENSG00000108255
Varsome BrowserCRYBA1
ACMGCRYBA1 variants
VarityP05813
Genomic Variants (DGV)CRYBA1 [DGVbeta]
DECIPHERCRYBA1 [patients]   [syndromes]   [variants]   [genes]  
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]  
Somatic Mutations in Cancer : COSMIC3DCRYBA1
Mutations and Diseases : HGMDCRYBA1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaCRYBA1
DgiDB (Drug Gene Interaction Database)CRYBA1
DoCM (Curated mutations)CRYBA1
CIViC (Clinical Interpretations of Variants in Cancer)CRYBA1
Cancer3DCRYBA1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123610    600881   
Orphanet23423    14002    14008    14010   
DisGeNETCRYBA1
MedgenCRYBA1
Genetic Testing Registry CRYBA1
NextProtP05813 [Medical]
GENETestsCRYBA1
Target ValidationCRYBA1
Huge Navigator CRYBA1 [HugePedia]
ClinGenCRYBA1
Clinical trials, drugs, therapy
MyCancerGenomeCRYBA1
Protein Interactions : CTDCRYBA1
Pharm GKB GenePA26908
PharosP05813
Clinical trialCRYBA1
Miscellaneous
canSAR (ICR)CRYBA1
HarmonizomeCRYBA1
DataMed IndexCRYBA1
Probes
Litterature
PubMed53 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXCRYBA1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Oct 4 15:46:50 CEST 2021

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