COQ8B (coenzyme Q8B)

1. Identity

Other alias
General Information
NPHS9
HGNC (Hugo) COQ8B
LocusID (NCBI) 79934
Atlas_Id 78786
Location 19q13.2  [Link to chromosome band 19q13]
Location_base_pair Starts at 40691529 and ends at 40715106 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)

2. DNA/RNA

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

 

3. External links

Nomenclature
HGNC (Hugo)COQ8B   19041
Cards
Entrez_Gene (NCBI)COQ8B  79934  coenzyme Q8B
AliasesADCK4; NPHS9
GeneCards (Weizmann)COQ8B
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View] &nbsp [Sequence]  chr19:40691529-40715106 [Contig_View]  COQ8B [Vega]
TCGA cBioPortalCOQ8B
AceView (NCBI)COQ8B
Genatlas (Paris)COQ8B
WikiGenes79934
SOURCE (Princeton)COQ8B
Genetics Home Reference (NIH)COQ8B
Genomic and cartography
GoldenPath hg38 (UCSC)COQ8B  -     chr19:40691529-40715106 -  19q13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COQ8B  -     19q13.2   [Description]    (hg19-Feb_2009)
EnsemblCOQ8B - 19q13.2 [CytoView hg19]  COQ8B - 19q13.2 [CytoView hg38]
Mapping of homologs : NCBICOQ8B [Mapview hg19]  COQ8B [Mapview hg38]
OMIM615567   615573   
Gene and transcription
Genbank (Entrez)AF052122 AK022291 AK057199 AU121879 BC013114
RefSeq transcript (Entrez)NM_001142555 NM_024876
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COQ8B
Cluster EST : UnigeneHs.130712 [ NCBI ]
CGAP (NCI)Hs.130712
Gene ExpressionCOQ8B [ NCBI-GEO ]   COQ8B [ EBI - ARRAY_EXPRESS ]   COQ8B [ SEEK ]   COQ8B [ MEM ]
Gene Expression Viewer (FireBrowse)COQ8B [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets] &nbsp [Normal Tissue Atlas] &nbsp[carcinoma Classsification] &nbsp[NCI60]
GenevestigatorExpression in : [tissues] &nbsp[cell-lines] &nbsp[cancer] &nbsp[perturbations] &nbsp
BioGPS (Tissue expression)79934
GTEX Portal (Tissue expression)COQ8B
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ96D53   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ96D53  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ96D53
Splice isoforms : SwissVarQ96D53
PhosPhoSitePlusQ96D53
Domains : Interpro (EBI)Kinase-like_dom    UbiB_dom   
Domain families : Pfam (Sanger)ABC1 (PF03109)   
Domain families : Pfam (NCBI)pfam03109   
Conserved Domain (NCBI)COQ8B
DMDM Disease mutations79934
Blocks (Seattle)COQ8B
SuperfamilyQ96D53
Peptide AtlasQ96D53
HPRD10632
IPIIPI00647707   IPI00178315   
Protein Interaction databases
DIP (DOE-UCLA)Q96D53
IntAct (EBI)Q96D53
BioGRIDCOQ8B
STRING (EMBL)COQ8B
ZODIACCOQ8B
Ontologies - Pathways
QuickGOQ96D53
Ontology : AmiGOprotein kinase activity  ATP binding  mitochondrion  cytosol  plasma membrane  protein phosphorylation  ubiquinone biosynthetic process  integral component of membrane  cerebellar Purkinje cell layer morphogenesis  mitochondrial membrane  
Ontology : EGO-EBIprotein kinase activity  ATP binding  mitochondrion  cytosol  plasma membrane  protein phosphorylation  ubiquinone biosynthetic process  integral component of membrane  cerebellar Purkinje cell layer morphogenesis  mitochondrial membrane  
NDEx NetworkCOQ8B
Atlas of Cancer Signalling NetworkCOQ8B
Wikipedia pathwaysCOQ8B
Orthology - Evolution
OrthoDB79934
Phylogenetic Trees/Animal Genes : TreeFamCOQ8B
HOVERGENQ96D53
HOGENOMQ96D53
Homologs : HomoloGeneCOQ8B
Homology/Alignments : Family Browser (UCSC)COQ8B
Gene fusions - Rearrangements
Fusion : QuiverCOQ8B
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOQ8B [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COQ8B
dbVarCOQ8B
ClinVarCOQ8B
1000_GenomesCOQ8B 
Exome Variant ServerCOQ8B
Varsome BrowserCOQ8B
Genetic variants : HAPMAP79934
Genomic Variants (DGV)COQ8B [DGVbeta]
DECIPHERCOQ8B [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOQ8B 
Mutations
ICGC Data PortalCOQ8B 
TCGA Data PortalCOQ8B 
Broad Tumor PortalCOQ8B
OASIS PortalCOQ8B [ Somatic mutations - Copy number]
Mutations and Diseases : HGMDCOQ8B
BioMutasearch COQ8B
DgiDB (Drug Gene Interaction Database)COQ8B
DoCM (Curated mutations)COQ8B (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COQ8B (select a term)
intoGenCOQ8B
Cancer3DCOQ8B(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM615567    615573   
Orphanet
DisGeNETCOQ8B
MedgenCOQ8B
Genetic Testing Registry COQ8B
NextProtQ96D53 [Medical]
TSGene79934
GENETestsCOQ8B
Target ValidationCOQ8B
Huge Navigator COQ8B [HugePedia]
snp3D : Map Gene to Disease79934
BioCentury BCIQCOQ8B
ClinGenCOQ8B
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD79934
Chemical/Pharm GKB GenePA134988974
Clinical trialCOQ8B
Miscellaneous
canSAR (ICR)COQ8B (select the gene name)
Probes
Litterature
PubMed16 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOQ8B
EVEXCOQ8B
GoPubMedCOQ8B
iHOPCOQ8B
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 : Mon Jul 30 13:41:16 CEST 2018

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