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CYP39A1 (cytochrome P450 family 39 subfamily A member 1)

Identity

Alias_namescytochrome P450, subfamily XXXIX (oxysterol 7 alpha-hydroxylase), polypeptide 1
cytochrome P450, family 39, subfamily A, polypeptide 1
Other alias-
HGNC (Hugo) CYP39A1
LocusID (NCBI) 51302
Atlas_Id 52988
Location 6p12.3  [Link to chromosome band 6p12]
Location_base_pair Starts at 46549580 and ends at 46652830 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)
CYP39A1 (6p12.3) / LEMD2 (6p21.31)EIF3K (19q13.2) / CYP39A1 (6p12.3)GFOD1 (6p24.1) / CYP39A1 (6p12.3)
EIF3K CYP39A1CYP39A1 6p12.3 / LEMD2 6p21.31GFOD1 6p24.1 / CYP39A1 6p12.3

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(6;6)(p12;p21) CYP39A1/LEMD2
t(6;6)(p12;p23) GFOD1/CYP39A1
t(6;19)(p12;q13) EIF3K/CYP39A1


External links

Nomenclature
HGNC (Hugo)CYP39A1   17449
Cards
Entrez_Gene (NCBI)CYP39A1  51302  cytochrome P450 family 39 subfamily A member 1
Aliases
GeneCards (Weizmann)CYP39A1
Ensembl hg19 (Hinxton)ENSG00000146233 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000146233 [Gene_View]  ENSG00000146233 [Sequence]  chr6:46549580-46652830 [Contig_View]  CYP39A1 [Vega]
ICGC DataPortalENSG00000146233
TCGA cBioPortalCYP39A1
AceView (NCBI)CYP39A1
Genatlas (Paris)CYP39A1
WikiGenes51302
SOURCE (Princeton)CYP39A1
Genetics Home Reference (NIH)CYP39A1
Genomic and cartography
GoldenPath hg38 (UCSC)CYP39A1  -     chr6:46549580-46652830 -  6p12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CYP39A1  -     6p12.3   [Description]    (hg19-Feb_2009)
EnsemblCYP39A1 - 6p12.3 [CytoView hg19]  CYP39A1 - 6p12.3 [CytoView hg38]
Mapping of homologs : NCBICYP39A1 [Mapview hg19]  CYP39A1 [Mapview hg38]
OMIM605994   
Gene and transcription
Genbank (Entrez)AF237982 AK292263 AK301604 AK307986 BC010358
RefSeq transcript (Entrez)NM_001278738 NM_001278739 NM_016593
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CYP39A1
Cluster EST : UnigeneHs.387367 [ NCBI ]
CGAP (NCI)Hs.387367
Alternative Splicing GalleryENSG00000146233
Gene ExpressionCYP39A1 [ NCBI-GEO ]   CYP39A1 [ EBI - ARRAY_EXPRESS ]   CYP39A1 [ SEEK ]   CYP39A1 [ MEM ]
Gene Expression Viewer (FireBrowse)CYP39A1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)51302
GTEX Portal (Tissue expression)CYP39A1
Human Protein AtlasENSG00000146233-CYP39A1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ9NYL5   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ9NYL5  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ9NYL5
Splice isoforms : SwissVarQ9NYL5
PhosPhoSitePlusQ9NYL5
Domains : Interpro (EBI)Cyt_P450    Cyt_P450_CYP7A1-type    Cyt_P450_E_grp-IV    Cyt_P450_sf   
Domain families : Pfam (Sanger)p450 (PF00067)   
Domain families : Pfam (NCBI)pfam00067   
Conserved Domain (NCBI)CYP39A1
DMDM Disease mutations51302
Blocks (Seattle)CYP39A1
SuperfamilyQ9NYL5
Human Protein Atlas [tissue]ENSG00000146233-CYP39A1 [tissue]
Peptide AtlasQ9NYL5
HPRD07067
IPIIPI00009883   
Protein Interaction databases
DIP (DOE-UCLA)Q9NYL5
IntAct (EBI)Q9NYL5
FunCoupENSG00000146233
BioGRIDCYP39A1
STRING (EMBL)CYP39A1
ZODIACCYP39A1
Ontologies - Pathways
QuickGOQ9NYL5
Ontology : AmiGOiron ion binding  endoplasmic reticulum membrane  bile acid biosynthetic process  bile acid biosynthetic process  bile acid biosynthetic process  cholesterol catabolic process  digestion  steroid 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  sterol metabolic process  heme binding  bile acid catabolic process  organelle membrane  cholesterol homeostasis  intracellular membrane-bounded organelle  oxidation-reduction process  
Ontology : EGO-EBIiron ion binding  endoplasmic reticulum membrane  bile acid biosynthetic process  bile acid biosynthetic process  bile acid biosynthetic process  cholesterol catabolic process  digestion  steroid 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  oxysterol 7-alpha-hydroxylase activity  sterol metabolic process  heme binding  bile acid catabolic process  organelle membrane  cholesterol homeostasis  intracellular membrane-bounded organelle  oxidation-reduction process  
Pathways : KEGGPrimary bile acid biosynthesis   
NDEx NetworkCYP39A1
Atlas of Cancer Signalling NetworkCYP39A1
Wikipedia pathwaysCYP39A1
Orthology - Evolution
OrthoDB51302
GeneTree (enSembl)ENSG00000146233
Phylogenetic Trees/Animal Genes : TreeFamCYP39A1
HOVERGENQ9NYL5
HOGENOMQ9NYL5
Homologs : HomoloGeneCYP39A1
Homology/Alignments : Family Browser (UCSC)CYP39A1
Gene fusions - Rearrangements
Fusion : MitelmanCYP39A1/LEMD2 [6p12.3/6p21.31]  
Fusion : MitelmanEIF3K/CYP39A1 [19q13.2/6p12.3]  [t(6;19)(p12;q13)]  
Fusion : MitelmanGFOD1/CYP39A1 [6p24.1/6p12.3]  [t(6;6)(p12;p23)]  
Fusion PortalCYP39A1 6p12.3 LEMD2 6p21.31 KIRC
Fusion PortalGFOD1 6p24.1 CYP39A1 6p12.3 BRCA
Fusion : QuiverCYP39A1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCYP39A1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CYP39A1
dbVarCYP39A1
ClinVarCYP39A1
1000_GenomesCYP39A1 
Exome Variant ServerCYP39A1
ExAC (Exome Aggregation Consortium)ENSG00000146233
GNOMAD BrowserENSG00000146233
Varsome BrowserCYP39A1
Genetic variants : HAPMAP51302
Genomic Variants (DGV)CYP39A1 [DGVbeta]
DECIPHERCYP39A1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCYP39A1 
Mutations
ICGC Data PortalCYP39A1 
TCGA Data PortalCYP39A1 
Broad Tumor PortalCYP39A1
OASIS PortalCYP39A1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCYP39A1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCYP39A1
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 CYP39A1
DgiDB (Drug Gene Interaction Database)CYP39A1
DoCM (Curated mutations)CYP39A1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CYP39A1 (select a term)
intoGenCYP39A1
Cancer3DCYP39A1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605994   
Orphanet
DisGeNETCYP39A1
MedgenCYP39A1
Genetic Testing Registry CYP39A1
NextProtQ9NYL5 [Medical]
TSGene51302
GENETestsCYP39A1
Target ValidationCYP39A1
Huge Navigator CYP39A1 [HugePedia]
snp3D : Map Gene to Disease51302
BioCentury BCIQCYP39A1
ClinGenCYP39A1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD51302
Chemical/Pharm GKB GenePA38452
Clinical trialCYP39A1
Miscellaneous
canSAR (ICR)CYP39A1 (select the gene name)
Probes
Litterature
PubMed12 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCYP39A1
EVEXCYP39A1
GoPubMedCYP39A1
iHOPCYP39A1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Nov 6 11:01:21 CET 2018

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