Atlas of Genetics and Cytogenetics in Oncology and Haematology

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PYROXD1 (pyridine nucleotide-disulphide oxidoreductase domain 1)

Identity

Alias (NCBI)MFM8
HGNC (Hugo) PYROXD1
HGNC Alias symbDKFZp762G094
FLJ22028
LocusID (NCBI) 79912
Atlas_Id 72432
Location 12p12.1  [Link to chromosome band 12p12]
Location_base_pair Starts at 21437604 and ends at 21471252 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)
FAM129B (9q33.3) / PYROXD1 (12p12.1)

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

 

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(9;12)(q34;p12) FAM129B/PYROXD1

External links

Nomenclature
HGNC (Hugo)PYROXD1   26162
Cards
Entrez_Gene (NCBI)PYROXD1    pyridine nucleotide-disulphide oxidoreductase domain 1
AliasesMFM8
GeneCards (Weizmann)PYROXD1
Ensembl hg19 (Hinxton)ENSG00000121350 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000121350 [Gene_View]  ENSG00000121350 [Sequence]  chr12:21437604-21471252 [Contig_View]  PYROXD1 [Vega]
ICGC DataPortalENSG00000121350
TCGA cBioPortalPYROXD1
AceView (NCBI)PYROXD1
Genatlas (Paris)PYROXD1
SOURCE (Princeton)PYROXD1
Genetics Home Reference (NIH)PYROXD1
Genomic and cartography
GoldenPath hg38 (UCSC)PYROXD1  -     chr12:21437604-21471252 +  12p12.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)PYROXD1  -     12p12.1   [Description]    (hg19-Feb_2009)
GoldenPathPYROXD1 - 12p12.1 [CytoView hg19]  PYROXD1 - 12p12.1 [CytoView hg38]
ImmunoBaseENSG00000121350
genome Data Viewer NCBIPYROXD1 [Mapview hg19]  
OMIM617220   617258   
Gene and transcription
Genbank (Entrez)AK025681 AK095813 AK125461 AK293820 AK307710
RefSeq transcript (Entrez)NM_001350912 NM_001350913 NM_024854
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)PYROXD1
Alternative Splicing GalleryENSG00000121350
Gene ExpressionPYROXD1 [ NCBI-GEO ]   PYROXD1 [ EBI - ARRAY_EXPRESS ]   PYROXD1 [ SEEK ]   PYROXD1 [ MEM ]
Gene Expression Viewer (FireBrowse)PYROXD1 [ Firebrowse - Broad ]
GenevisibleExpression of PYROXD1 in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)79912
GTEX Portal (Tissue expression)PYROXD1
Human Protein AtlasENSG00000121350-PYROXD1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WU10   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WU10  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WU10
Splice isoforms : SwissVarQ8WU10
PhosPhoSitePlusQ8WU10
Domains : Interpro (EBI)FAD/NAD-bd_sf    FAD/NAD-binding_dom    Rubredoxin_C   
Domain families : Pfam (Sanger)Pyr_redox_2 (PF07992)    Rubredoxin_C (PF18267)   
Domain families : Pfam (NCBI)pfam07992    pfam18267   
Conserved Domain (NCBI)PYROXD1
Blocks (Seattle)PYROXD1
SuperfamilyQ8WU10
Human Protein Atlas [tissue]ENSG00000121350-PYROXD1 [tissue]
Peptide AtlasQ8WU10
HPRD07976
IPIIPI00385950   IPI01011130   IPI00299411   IPI01010304   IPI00792796   IPI01015474   
Protein Interaction databases
DIP (DOE-UCLA)Q8WU10
IntAct (EBI)Q8WU10
BioGRIDPYROXD1
STRING (EMBL)PYROXD1
ZODIACPYROXD1
Ontologies - Pathways
QuickGOQ8WU10
Ontology : AmiGOprotein binding  nucleus  oxidoreductase activity  sarcomere  cellular response to oxidative stress  oxidation-reduction process  
Ontology : EGO-EBIprotein binding  nucleus  oxidoreductase activity  sarcomere  cellular response to oxidative stress  oxidation-reduction process  
NDEx NetworkPYROXD1
Atlas of Cancer Signalling NetworkPYROXD1
Wikipedia pathwaysPYROXD1
Orthology - Evolution
OrthoDB79912
GeneTree (enSembl)ENSG00000121350
Phylogenetic Trees/Animal Genes : TreeFamPYROXD1
HOGENOMQ8WU10
Homologs : HomoloGenePYROXD1
Homology/Alignments : Family Browser (UCSC)PYROXD1
Gene fusions - Rearrangements
Fusion : QuiverPYROXD1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerPYROXD1 [hg38]
dbVarPYROXD1
ClinVarPYROXD1
MonarchPYROXD1
1000_GenomesPYROXD1 
Exome Variant ServerPYROXD1
GNOMAD BrowserENSG00000121350
Varsome BrowserPYROXD1
Genomic Variants (DGV)PYROXD1 [DGVbeta]
DECIPHERPYROXD1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisPYROXD1 
Mutations
ICGC Data PortalPYROXD1 
TCGA Data PortalPYROXD1 
Broad Tumor PortalPYROXD1
OASIS PortalPYROXD1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICPYROXD1  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DPYROXD1
Mutations and Diseases : HGMDPYROXD1
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 PYROXD1
DgiDB (Drug Gene Interaction Database)PYROXD1
DoCM (Curated mutations)PYROXD1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)PYROXD1 (select a term)
intoGenPYROXD1
Cancer3DPYROXD1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM617220    617258   
Orphanet
DisGeNETPYROXD1
MedgenPYROXD1
Genetic Testing Registry PYROXD1
NextProtQ8WU10 [Medical]
GENETestsPYROXD1
Target ValidationPYROXD1
Huge Navigator PYROXD1 [HugePedia]
ClinGenPYROXD1
Clinical trials, drugs, therapy
MyCancerGenomePYROXD1
Protein Interactions : CTD
Pharm GKB GenePA162400525
Clinical trialPYROXD1
Miscellaneous
canSAR (ICR)PYROXD1 (select the gene name)
HarmonizomePYROXD1
DataMed IndexPYROXD1
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMinePYROXD1
EVEXPYROXD1
GoPubMedPYROXD1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Sat Dec 5 17:24:05 CET 2020
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