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CRYM (crystallin mu)

Identity

Alias_namescrystallin
Alias_symbol (synonym)DFNA40
Other aliasTHBP
HGNC (Hugo) CRYM
LocusID (NCBI) 1428
Atlas_Id 51036
Location 16p12.2  [Link to chromosome band 16p12]
Location_base_pair Starts at 21258518 and ends at 21303136 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
NUMA1 (11q13.4) / CRYM (16p12.2)TMC6 (17q25.3) / CRYM (16p12.2)NUMA1 11q13.4 / CRYM 16p12.2

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)CRYM   2418
Cards
Entrez_Gene (NCBI)CRYM  1428  crystallin mu
AliasesDFNA40; THBP
GeneCards (Weizmann)CRYM
Ensembl hg19 (Hinxton)ENSG00000103316 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000103316 [Gene_View]  chr16:21258518-21303136 [Contig_View]  CRYM [Vega]
ICGC DataPortalENSG00000103316
TCGA cBioPortalCRYM
AceView (NCBI)CRYM
Genatlas (Paris)CRYM
WikiGenes1428
SOURCE (Princeton)CRYM
Genetics Home Reference (NIH)CRYM
Genomic and cartography
GoldenPath hg38 (UCSC)CRYM  -     chr16:21258518-21303136 -  16p12.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CRYM  -     16p12.2   [Description]    (hg19-Feb_2009)
EnsemblCRYM - 16p12.2 [CytoView hg19]  CRYM - 16p12.2 [CytoView hg38]
Mapping of homologs : NCBICRYM [Mapview hg19]  CRYM [Mapview hg38]
OMIM123740   616357   
Gene and transcription
Genbank (Entrez)AK290852 AK310424 BC008398 BC018061 BG033512
RefSeq transcript (Entrez)NM_001014444 NM_001888
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CRYM
Cluster EST : UnigeneHs.924 [ NCBI ]
CGAP (NCI)Hs.924
Alternative Splicing GalleryENSG00000103316
Gene ExpressionCRYM [ NCBI-GEO ]   CRYM [ EBI - ARRAY_EXPRESS ]   CRYM [ SEEK ]   CRYM [ MEM ]
Gene Expression Viewer (FireBrowse)CRYM [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1428
GTEX Portal (Tissue expression)CRYM
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ14894   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ14894  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ14894
Splice isoforms : SwissVarQ14894
Catalytic activity : Enzyme1.5.1.25 [ Enzyme-Expasy ]   1.5.1.251.5.1.25 [ IntEnz-EBI ]   1.5.1.25 [ BRENDA ]   1.5.1.25 [ KEGG ]   
PhosPhoSitePlusQ14894
Domains : Interpro (EBI)NAD(P)-bd_dom    ODC_Mu_crystall    ODC_N   
Domain families : Pfam (Sanger)OCD_Mu_crystall (PF02423)   
Domain families : Pfam (NCBI)pfam02423   
Conserved Domain (NCBI)CRYM
DMDM Disease mutations1428
Blocks (Seattle)CRYM
PDB (SRS)2I99   
PDB (PDBSum)2I99   
PDB (IMB)2I99   
PDB (RSDB)2I99   
Structural Biology KnowledgeBase2I99   
SCOP (Structural Classification of Proteins)2I99   
CATH (Classification of proteins structures)2I99   
SuperfamilyQ14894
Human Protein AtlasENSG00000103316
Peptide AtlasQ14894
HPRD08831
IPIIPI00000949   IPI00556050   
Protein Interaction databases
DIP (DOE-UCLA)Q14894
IntAct (EBI)Q14894
FunCoupENSG00000103316
BioGRIDCRYM
STRING (EMBL)CRYM
ZODIACCRYM
Ontologies - Pathways
QuickGOQ14894
Ontology : AmiGOnegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  cytoplasm  mitochondrion  peroxisomal matrix  cytosol  lysine catabolic process  sensory perception of sound  oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor  thyroid hormone metabolic process  protein homodimerization activity  thiomorpholine-carboxylate dehydrogenase activity  NADP binding  oxidation-reduction process  extracellular exosome  thyroid hormone binding  thyroid hormone binding  thyroid hormone transport  
Ontology : EGO-EBInegative regulation of transcription from RNA polymerase II promoter  transcription corepressor activity  protein binding  nucleus  cytoplasm  mitochondrion  peroxisomal matrix  cytosol  lysine catabolic process  sensory perception of sound  oxidoreductase activity, acting on the CH-NH2 group of donors, NAD or NADP as acceptor  thyroid hormone metabolic process  protein homodimerization activity  thiomorpholine-carboxylate dehydrogenase activity  NADP binding  oxidation-reduction process  extracellular exosome  thyroid hormone binding  thyroid hormone binding  thyroid hormone transport  
NDEx NetworkCRYM
Atlas of Cancer Signalling NetworkCRYM
Wikipedia pathwaysCRYM
Orthology - Evolution
OrthoDB1428
GeneTree (enSembl)ENSG00000103316
Phylogenetic Trees/Animal Genes : TreeFamCRYM
HOVERGENQ14894
HOGENOMQ14894
Homologs : HomoloGeneCRYM
Homology/Alignments : Family Browser (UCSC)CRYM
Gene fusions - Rearrangements
Fusion : MitelmanNUMA1/CRYM [11q13.4/16p12.2]  [t(11;16)(q13;p12)]  
Fusion: TCGANUMA1 11q13.4 CRYM 16p12.2 PRAD
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCRYM [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CRYM
dbVarCRYM
ClinVarCRYM
1000_GenomesCRYM 
Exome Variant ServerCRYM
ExAC (Exome Aggregation Consortium)CRYM (select the gene name)
Genetic variants : HAPMAP1428
Genomic Variants (DGV)CRYM [DGVbeta]
DECIPHERCRYM [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCRYM 
Mutations
ICGC Data PortalCRYM 
TCGA Data PortalCRYM 
Broad Tumor PortalCRYM
OASIS PortalCRYM [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCRYM  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCRYM
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 CRYM
DgiDB (Drug Gene Interaction Database)CRYM
DoCM (Curated mutations)CRYM (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CRYM (select a term)
intoGenCRYM
Cancer3DCRYM(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM123740    616357   
Orphanet12046   
MedgenCRYM
Genetic Testing Registry CRYM
NextProtQ14894 [Medical]
TSGene1428
GENETestsCRYM
Target ValidationCRYM
Huge Navigator CRYM [HugePedia]
snp3D : Map Gene to Disease1428
BioCentury BCIQCRYM
ClinGenCRYM
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1428
Chemical/Pharm GKB GenePA26924
Clinical trialCRYM
Miscellaneous
canSAR (ICR)CRYM (select the gene name)
Probes
Litterature
PubMed37 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCRYM
EVEXCRYM
GoPubMedCRYM
iHOPCRYM
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 16:58:41 CEST 2017

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