Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CRYBB1 (crystallin beta B1)

Identity

Alias_namescrystallin, beta B1
Other aliasCATCN3
CTRCT17
HGNC (Hugo) CRYBB1
LocusID (NCBI) 1414
Atlas_Id 62104
Location 22q12.1  [Link to chromosome band 22q12]
Location_base_pair Starts at 26599398 and ends at 26618027 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
PDS5B (13q13.1) / CRYBB1 (22q12.1)

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)CRYBB1   2397
Cards
Entrez_Gene (NCBI)CRYBB1  1414  crystallin beta B1
AliasesCATCN3; CTRCT17
GeneCards (Weizmann)CRYBB1
Ensembl hg19 (Hinxton)ENSG00000100122 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000100122 [Gene_View]  chr22:26599398-26618027 [Contig_View]  CRYBB1 [Vega]
ICGC DataPortalENSG00000100122
TCGA cBioPortalCRYBB1
AceView (NCBI)CRYBB1
Genatlas (Paris)CRYBB1
WikiGenes1414
SOURCE (Princeton)CRYBB1
Genetics Home Reference (NIH)CRYBB1
Genomic and cartography
GoldenPath hg38 (UCSC)CRYBB1  -     chr22:26599398-26618027 -  22q12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYBB1  -     22q12.1   [Description]    (hg19-Feb_2009)
EnsemblCRYBB1 - 22q12.1 [CytoView hg19]  CRYBB1 - 22q12.1 [CytoView hg38]
Mapping of homologs : NCBICRYBB1 [Mapview hg19]  CRYBB1 [Mapview hg38]
OMIM600929   611544   
Gene and transcription
Genbank (Entrez)BC036790 CR456425 CU012986 CU013274 U35340
RefSeq transcript (Entrez)NM_001887
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRYBB1
Cluster EST : UnigeneHs.37135 [ NCBI ]
CGAP (NCI)Hs.37135
Alternative Splicing GalleryENSG00000100122
Gene ExpressionCRYBB1 [ NCBI-GEO ]   CRYBB1 [ EBI - ARRAY_EXPRESS ]   CRYBB1 [ SEEK ]   CRYBB1 [ MEM ]
Gene Expression Viewer (FireBrowse)CRYBB1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1414
GTEX Portal (Tissue expression)CRYBB1
Protein : pattern, domain, 3D structure
UniProt/SwissProtP53674   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP53674  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP53674
Splice isoforms : SwissVarP53674
PhosPhoSitePlusP53674
Domaine pattern : Prosite (Expaxy)CRYSTALLIN_BETA_GAMMA (PS50915)   
Domains : Interpro (EBI)Beta/gamma_crystallin    CRYBB1    G_crystallin-rel   
Domain families : Pfam (Sanger)Crystall (PF00030)   
Domain families : Pfam (NCBI)pfam00030   
Domain families : Smart (EMBL)XTALbg (SM00247)  
Conserved Domain (NCBI)CRYBB1
DMDM Disease mutations1414
Blocks (Seattle)CRYBB1
PDB (SRS)1OKI   
PDB (PDBSum)1OKI   
PDB (IMB)1OKI   
PDB (RSDB)1OKI   
Structural Biology KnowledgeBase1OKI   
SCOP (Structural Classification of Proteins)1OKI   
CATH (Classification of proteins structures)1OKI   
SuperfamilyP53674
Human Protein AtlasENSG00000100122
Peptide AtlasP53674
HPRD09021
IPIIPI00216092   
Protein Interaction databases
DIP (DOE-UCLA)P53674
IntAct (EBI)P53674
FunCoupENSG00000100122
BioGRIDCRYBB1
STRING (EMBL)CRYBB1
ZODIACCRYBB1
Ontologies - Pathways
QuickGOP53674
Ontology : AmiGOstructural constituent of eye lens  protein binding  visual perception  
Ontology : EGO-EBIstructural constituent of eye lens  protein binding  visual perception  
NDEx NetworkCRYBB1
Atlas of Cancer Signalling NetworkCRYBB1
Wikipedia pathwaysCRYBB1
Orthology - Evolution
OrthoDB1414
GeneTree (enSembl)ENSG00000100122
Phylogenetic Trees/Animal Genes : TreeFamCRYBB1
HOVERGENP53674
HOGENOMP53674
Homologs : HomoloGeneCRYBB1
Homology/Alignments : Family Browser (UCSC)CRYBB1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYBB1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYBB1
dbVarCRYBB1
ClinVarCRYBB1
1000_GenomesCRYBB1 
Exome Variant ServerCRYBB1
ExAC (Exome Aggregation Consortium)CRYBB1 (select the gene name)
Genetic variants : HAPMAP1414
Genomic Variants (DGV)CRYBB1 [DGVbeta]
DECIPHERCRYBB1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYBB1 
Mutations
ICGC Data PortalCRYBB1 
TCGA Data PortalCRYBB1 
Broad Tumor PortalCRYBB1
OASIS PortalCRYBB1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYBB1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYBB1
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 CRYBB1
DgiDB (Drug Gene Interaction Database)CRYBB1
DoCM (Curated mutations)CRYBB1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYBB1 (select a term)
intoGenCRYBB1
Cancer3DCRYBB1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM600929    611544   
Orphanet1584    14001    14008   
MedgenCRYBB1
Genetic Testing Registry CRYBB1
NextProtP53674 [Medical]
TSGene1414
GENETestsCRYBB1
Target ValidationCRYBB1
Huge Navigator CRYBB1 [HugePedia]
snp3D : Map Gene to Disease1414
BioCentury BCIQCRYBB1
ClinGenCRYBB1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1414
Chemical/Pharm GKB GenePA26911
Clinical trialCRYBB1
Miscellaneous
canSAR (ICR)CRYBB1 (select the gene name)
Probes
Litterature
PubMed40 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYBB1
EVEXCRYBB1
GoPubMedCRYBB1
iHOPCRYBB1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Jun 7 15:44:36 CEST 2017

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