Atlas of Genetics and Cytogenetics in Oncology and Haematology


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CECR1 (cat eye syndrome chromosome region, candidate 1)

Identity

Alias_namesIDGFL
Alias_symbol (synonym)ADGF
Other aliasADA2
PAN
SNEDS
HGNC (Hugo) CECR1
LocusID (NCBI) 51816
Atlas_Id 45777
Location 22q11.1  [Link to chromosome band 22q11]
Location_base_pair Starts at 17659680 and ends at 17700475 bp from pter ( according to hg19-Feb_2009)

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)CECR1   1839
Cards
Entrez_Gene (NCBI)CECR1  51816  cat eye syndrome chromosome region, candidate 1
AliasesADA2; ADGF; IDGFL; PAN; 
SNEDS
GeneCards (Weizmann)CECR1
Ensembl hg19 (Hinxton)ENSG00000093072 [Gene_View]  chr22:17659680-17700475 [Contig_View]  CECR1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000093072 [Gene_View]  chr22:17659680-17700475 [Contig_View]  CECR1 [Vega]
ICGC DataPortalENSG00000093072
TCGA cBioPortalCECR1
AceView (NCBI)CECR1
Genatlas (Paris)CECR1
WikiGenes51816
SOURCE (Princeton)CECR1
Genetics Home Reference (NIH)CECR1
Genomic and cartography
GoldenPath hg19 (UCSC)CECR1  -     chr22:17659680-17700475 -  22q11.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)CECR1  -     22q11.1   [Description]    (hg38-Dec_2013)
EnsemblCECR1 - 22q11.1 [CytoView hg19]  CECR1 - 22q11.1 [CytoView hg38]
Mapping of homologs : NCBICECR1 [Mapview hg19]  CECR1 [Mapview hg38]
OMIM182410   607575   615688   
Gene and transcription
Genbank (Entrez)AB209648 AF190746 AI523928 AK027682 AK074702
RefSeq transcript (Entrez)NM_001282225 NM_001282226 NM_001282227 NM_001282228 NM_001282229 NM_017424 NM_177405
RefSeq genomic (Entrez)NC_000022 NC_018933 NG_033943 NT_187355 NW_004929429
Consensus coding sequences : CCDS (NCBI)CECR1
Cluster EST : UnigeneHs.637274 [ NCBI ]
CGAP (NCI)Hs.637274
Alternative Splicing GalleryENSG00000093072
Gene ExpressionCECR1 [ NCBI-GEO ]   CECR1 [ EBI - ARRAY_EXPRESS ]   CECR1 [ SEEK ]   CECR1 [ MEM ]
Gene Expression Viewer (FireBrowse)CECR1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51816
GTEX Portal (Tissue expression)CECR1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NZK5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NZK5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NZK5
Splice isoforms : SwissVarQ9NZK5
Catalytic activity : Enzyme3.5.4.4 [ Enzyme-Expasy ]   3.5.4.43.5.4.4 [ IntEnz-EBI ]   3.5.4.4 [ BRENDA ]   3.5.4.4 [ KEGG ]   
PhosPhoSitePlusQ9NZK5
Domains : Interpro (EBI)A/AMP_deaminase_dom    A_deaminase_N    ADGF    Metal_Hydrolase   
Domain families : Pfam (Sanger)A_deaminase (PF00962)    A_deaminase_N (PF08451)   
Domain families : Pfam (NCBI)pfam00962    pfam08451   
Conserved Domain (NCBI)CECR1
DMDM Disease mutations51816
Blocks (Seattle)CECR1
PDB (SRS)3LGD    3LGG   
PDB (PDBSum)3LGD    3LGG   
PDB (IMB)3LGD    3LGG   
PDB (RSDB)3LGD    3LGG   
Structural Biology KnowledgeBase3LGD    3LGG   
SCOP (Structural Classification of Proteins)3LGD    3LGG   
CATH (Classification of proteins structures)3LGD    3LGG   
SuperfamilyQ9NZK5
Human Protein AtlasENSG00000093072
Peptide AtlasQ9NZK5
HPRD10462
IPIIPI00303071   IPI00252768   IPI01011521   IPI00748521   IPI01012646   IPI00852630   IPI00917635   
Protein Interaction databases
DIP (DOE-UCLA)Q9NZK5
IntAct (EBI)Q9NZK5
FunCoupENSG00000093072
BioGRIDCECR1
STRING (EMBL)CECR1
ZODIACCECR1
Ontologies - Pathways
QuickGOQ9NZK5
Ontology : AmiGOadenosine deaminase activity  adenosine deaminase activity  extracellular region  extracellular space  cytosol  adenosine catabolic process  multicellular organism development  growth factor activity  growth factor activity  heparin binding  zinc ion binding  adenosine receptor binding  protein homodimerization activity  hypoxanthine salvage  proteoglycan binding  cellular protein metabolic process  inosine biosynthetic process  
Ontology : EGO-EBIadenosine deaminase activity  adenosine deaminase activity  extracellular region  extracellular space  cytosol  adenosine catabolic process  multicellular organism development  growth factor activity  growth factor activity  heparin binding  zinc ion binding  adenosine receptor binding  protein homodimerization activity  hypoxanthine salvage  proteoglycan binding  cellular protein metabolic process  inosine biosynthetic process  
NDEx NetworkCECR1
Atlas of Cancer Signalling NetworkCECR1
Wikipedia pathwaysCECR1
Orthology - Evolution
OrthoDB51816
GeneTree (enSembl)ENSG00000093072
Phylogenetic Trees/Animal Genes : TreeFamCECR1
HOVERGENQ9NZK5
HOGENOMQ9NZK5
Homologs : HomoloGeneCECR1
Homology/Alignments : Family Browser (UCSC)CECR1
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCECR1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CECR1
dbVarCECR1
ClinVarCECR1
1000_GenomesCECR1 
Exome Variant ServerCECR1
ExAC (Exome Aggregation Consortium)CECR1 (select the gene name)
Genetic variants : HAPMAP51816
Genomic Variants (DGV)CECR1 [DGVbeta]
DECIPHER (Syndromes)22:17659680-17700475  ENSG00000093072
CONAN: Copy Number AnalysisCECR1 
Mutations
ICGC Data PortalCECR1 
TCGA Data PortalCECR1 
Broad Tumor PortalCECR1
OASIS PortalCECR1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCECR1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCECR1
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
BioMutasearch CECR1
DgiDB (Drug Gene Interaction Database)CECR1
DoCM (Curated mutations)CECR1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CECR1 (select a term)
intoGenCECR1
Cancer3DCECR1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM182410    607575    615688   
Orphanet3327    22938   
MedgenCECR1
Genetic Testing Registry CECR1
NextProtQ9NZK5 [Medical]
TSGene51816
GENETestsCECR1
Huge Navigator CECR1 [HugePedia]
snp3D : Map Gene to Disease51816
BioCentury BCIQCECR1
ClinGenCECR1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51816
Chemical/Pharm GKB GenePA26382
Clinical trialCECR1
Miscellaneous
canSAR (ICR)CECR1 (select the gene name)
Probes
Litterature
PubMed25 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCECR1
EVEXCECR1
GoPubMedCECR1
iHOPCECR1
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 12:59:55 CET 2017

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