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TIMM8A (translocase of inner mitochondrial membrane 8 homolog A (yeast))

Identity

Other namesDDP
DDP1
DFN1
MTS
TIM8
HGNC (Hugo) TIMM8A
LocusID (NCBI) 1678
Atlas_Id 42568
Location Xq22.1  [Link to chromosome band Xq22]
Location_base_pair Starts at 100603026 and ends at 100603708 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
ABL1 (9q34.12) / TIMM8A (Xq22.1)

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)TIMM8A   11817
Cards
Entrez_Gene (NCBI)TIMM8A  1678  translocase of inner mitochondrial membrane 8 homolog A (yeast)
AliasesDDP; DDP1; DFN1; MTS; 
TIM8
GeneCards (Weizmann)TIMM8A
Ensembl hg19 (Hinxton)ENSG00000126953 [Gene_View]  chrX:100603026-100603708 [Contig_View]  TIMM8A [Vega]
Ensembl hg38 (Hinxton)ENSG00000126953 [Gene_View]  chrX:100603026-100603708 [Contig_View]  TIMM8A [Vega]
ICGC DataPortalENSG00000126953
TCGA cBioPortalTIMM8A
AceView (NCBI)TIMM8A
Genatlas (Paris)TIMM8A
WikiGenes1678
SOURCE (Princeton)TIMM8A
Genomic and cartography
GoldenPath hg19 (UCSC)TIMM8A  -     chrX:100603026-100603708 -  Xq22.1   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)TIMM8A  -     Xq22.1   [Description]    (hg38-Dec_2013)
EnsemblTIMM8A - Xq22.1 [CytoView hg19]  TIMM8A - Xq22.1 [CytoView hg38]
Mapping of homologs : NCBITIMM8A [Mapview hg19]  TIMM8A [Mapview hg38]
OMIM300356   304700   311150   
Gene and transcription
Genbank (Entrez)AK312117 AW204693 BC005236 BC006994 BC015093
RefSeq transcript (Entrez)NM_001145951 NM_004085 NM_032696
RefSeq genomic (Entrez)NC_000023 NC_018934 NG_011734 NT_011651 NW_004929444
Consensus coding sequences : CCDS (NCBI)TIMM8A
Cluster EST : UnigeneHs.447877 [ NCBI ]
CGAP (NCI)Hs.447877
Alternative Splicing GalleryENSG00000126953
Gene ExpressionTIMM8A [ NCBI-GEO ]   TIMM8A [ EBI - ARRAY_EXPRESS ]   TIMM8A [ SEEK ]   TIMM8A [ MEM ]
Gene Expression Viewer (FireBrowse)TIMM8A [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1678
GTEX Portal (Tissue expression)TIMM8A
Protein : pattern, domain, 3D structure
UniProt/SwissProtO60220 (Uniprot)
NextProtO60220  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO60220
Splice isoforms : SwissVarO60220 (Swissvar)
PhosPhoSitePlusO60220
Domains : Interpro (EBI)Tim10/DDP_fam_Znf   
Domain families : Pfam (Sanger)zf-Tim10_DDP (PF02953)   
Domain families : Pfam (NCBI)pfam02953   
DMDM Disease mutations1678
Blocks (Seattle)TIMM8A
SuperfamilyO60220
Human Protein AtlasENSG00000126953
Peptide AtlasO60220
HPRD02287
IPIIPI00028376   IPI00927533   
Protein Interaction databases
DIP (DOE-UCLA)O60220
IntAct (EBI)O60220
FunCoupENSG00000126953
BioGRIDTIMM8A
STRING (EMBL)TIMM8A
ZODIACTIMM8A
Ontologies - Pathways
QuickGOO60220
Ontology : AmiGOprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  nervous system development  metal ion binding  chaperone-mediated protein transport  
Ontology : EGO-EBIprotein binding  mitochondrion  mitochondrial inner membrane  mitochondrial intermembrane space  nervous system development  metal ion binding  chaperone-mediated protein transport  
NDEx NetworkTIMM8A
Atlas of Cancer Signalling NetworkTIMM8A
Wikipedia pathwaysTIMM8A
Orthology - Evolution
OrthoDB1678
GeneTree (enSembl)ENSG00000126953
Phylogenetic Trees/Animal Genes : TreeFamTIMM8A
Homologs : HomoloGeneTIMM8A
Homology/Alignments : Family Browser (UCSC)TIMM8A
Gene fusions - Rearrangements
Polymorphisms : SNP, variants
NCBI Variation ViewerTIMM8A [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)TIMM8A
dbVarTIMM8A
ClinVarTIMM8A
1000_GenomesTIMM8A 
Exome Variant ServerTIMM8A
ExAC (Exome Aggregation Consortium)TIMM8A (select the gene name)
Genetic variants : HAPMAP1678
Genomic Variants (DGV)TIMM8A [DGVbeta]
Mutations
ICGC Data PortalTIMM8A 
TCGA Data PortalTIMM8A 
Broad Tumor PortalTIMM8A
OASIS PortalTIMM8A [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICTIMM8A 
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)Eye diseases - LOVD
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch TIMM8A
DgiDB (Drug Gene Interaction Database)TIMM8A
DoCM (Curated mutations)TIMM8A (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)TIMM8A (select a term)
intoGenTIMM8A
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] 
Diseases
DECIPHER (Syndromes)X:100603026-100603708  ENSG00000126953
CONAN: Copy Number AnalysisTIMM8A 
Mutations and Diseases : HGMDTIMM8A
OMIM300356    304700    311150   
MedgenTIMM8A
Genetic Testing Registry TIMM8A
NextProtO60220 [Medical]
TSGene1678
GENETestsTIMM8A
Huge Navigator TIMM8A [HugePedia]
snp3D : Map Gene to Disease1678
BioCentury BCIQTIMM8A
ClinGenTIMM8A
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1678
Chemical/Pharm GKB GenePA36523
Clinical trialTIMM8A
Miscellaneous
canSAR (ICR)TIMM8A (select the gene name)
Probes
Litterature
PubMed47 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineTIMM8A
EVEXTIMM8A
GoPubMedTIMM8A
iHOPTIMM8A
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 19 19:16:42 CEST 2016

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