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CECR5 (cat eye syndrome chromosome region, candidate 5)

Identity

Other alias-
HGNC (Hugo) CECR5
LocusID (NCBI) 27440
Atlas_Id 61685
Location 22q11.1  [Link to chromosome band 22q11]
Location_base_pair Starts at 17618410 and ends at 17646177 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
INTS5 (11q12.3) / CECR5 (22q11.1)

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)CECR5   1843
Cards
Entrez_Gene (NCBI)CECR5  27440  cat eye syndrome chromosome region, candidate 5
Aliases
GeneCards (Weizmann)CECR5
Ensembl hg19 (Hinxton)ENSG00000069998 [Gene_View]  chr22:17618410-17646177 [Contig_View]  CECR5 [Vega]
Ensembl hg38 (Hinxton)ENSG00000069998 [Gene_View]  chr22:17618410-17646177 [Contig_View]  CECR5 [Vega]
ICGC DataPortalENSG00000069998
TCGA cBioPortalCECR5
AceView (NCBI)CECR5
Genatlas (Paris)CECR5
WikiGenes27440
SOURCE (Princeton)CECR5
Genetics Home Reference (NIH)CECR5
Genomic and cartography
GoldenPath hg19 (UCSC)CECR5  -     chr22:17618410-17646177 -  22q11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CECR5  -     22q11.1   [Description]    (hg38-Dec_2013)
EnsemblCECR5 - 22q11.1 [CytoView hg19]  CECR5 - 22q11.1 [CytoView hg38]
Mapping of homologs : NCBICECR5 [Mapview hg19]  CECR5 [Mapview hg38]
Gene and transcription
Genbank (Entrez)AF273270 AF273271 AK000461 AK001034 AK123646
RefSeq transcript (Entrez)NM_017829 NM_033070
RefSeq genomic (Entrez)NC_000022 NC_018933 NT_187355 NW_004929429
Consensus coding sequences : CCDS (NCBI)CECR5
Cluster EST : UnigeneHs.26890 [ NCBI ]
CGAP (NCI)Hs.26890
Alternative Splicing GalleryENSG00000069998
Gene ExpressionCECR5 [ NCBI-GEO ]   CECR5 [ EBI - ARRAY_EXPRESS ]   CECR5 [ SEEK ]   CECR5 [ MEM ]
Gene Expression Viewer (FireBrowse)CECR5 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)27440
GTEX Portal (Tissue expression)CECR5
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9BXW7   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9BXW7  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9BXW7
Splice isoforms : SwissVarQ9BXW7
PhosPhoSitePlusQ9BXW7
Domains : Interpro (EBI)CECR5    HAD-like_dom    HAD-SF_hydro_IIA    HAD-SF_hydro_IIA_CECR5   
Domain families : Pfam (Sanger)Hydrolase_6 (PF13344)   
Domain families : Pfam (NCBI)pfam13344   
Conserved Domain (NCBI)CECR5
DMDM Disease mutations27440
Blocks (Seattle)CECR5
SuperfamilyQ9BXW7
Human Protein AtlasENSG00000069998
Peptide AtlasQ9BXW7
HPRD16703
IPIIPI00011511   IPI00299177   IPI00853431   
Protein Interaction databases
DIP (DOE-UCLA)Q9BXW7
IntAct (EBI)Q9BXW7
FunCoupENSG00000069998
BioGRIDCECR5
STRING (EMBL)CECR5
ZODIACCECR5
Ontologies - Pathways
QuickGOQ9BXW7
Ontology : AmiGOmitochondrion  
Ontology : EGO-EBImitochondrion  
NDEx NetworkCECR5
Atlas of Cancer Signalling NetworkCECR5
Wikipedia pathwaysCECR5
Orthology - Evolution
OrthoDB27440
GeneTree (enSembl)ENSG00000069998
Phylogenetic Trees/Animal Genes : TreeFamCECR5
HOVERGENQ9BXW7
HOGENOMQ9BXW7
Homologs : HomoloGeneCECR5
Homology/Alignments : Family Browser (UCSC)CECR5
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCECR5 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CECR5
dbVarCECR5
ClinVarCECR5
1000_GenomesCECR5 
Exome Variant ServerCECR5
ExAC (Exome Aggregation Consortium)CECR5 (select the gene name)
Genetic variants : HAPMAP27440
Genomic Variants (DGV)CECR5 [DGVbeta]
DECIPHER (Syndromes)22:17618410-17646177  ENSG00000069998
CONAN: Copy Number AnalysisCECR5 
Mutations
ICGC Data PortalCECR5 
TCGA Data PortalCECR5 
Broad Tumor PortalCECR5
OASIS PortalCECR5 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCECR5  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCECR5
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CECR5
DgiDB (Drug Gene Interaction Database)CECR5
DoCM (Curated mutations)CECR5 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CECR5 (select a term)
intoGenCECR5
Cancer3DCECR5(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM
Orphanet
MedgenCECR5
Genetic Testing Registry CECR5
NextProtQ9BXW7 [Medical]
TSGene27440
GENETestsCECR5
Huge Navigator CECR5 [HugePedia]
snp3D : Map Gene to Disease27440
BioCentury BCIQCECR5
ClinGenCECR5
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD27440
Chemical/Pharm GKB GenePA26386
Clinical trialCECR5
Miscellaneous
canSAR (ICR)CECR5 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCECR5
EVEXCECR5
GoPubMedCECR5
iHOPCECR5
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 11:59:01 CET 2017

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