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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for TIMM8A |
Basic gene info. | Gene symbol | TIMM8A |
Gene name | translocase of inner mitochondrial membrane 8 homolog A (yeast) | |
Synonyms | DDP|DDP1|DFN1|MTS|TIM8 | |
Cytomap | UCSC genome browser: Xq22.1 | |
Genomic location | chrX :100603025-100603708 | |
Type of gene | protein-coding | |
RefGenes | NM_001145951.1, NM_004085.3,NM_032696.1, | |
Ensembl id | ENSG00000268249 | |
Description | X-linked deafness dystonia proteindeafness dystonia protein 1deafness/dystonia peptidemitochondrial import inner membrane translocase subunit Tim8 A | |
Modification date | 20141219 | |
dbXrefs | MIM : 300356 | |
HGNC : HGNC | ||
Ensembl : ENSG00000126953 | ||
HPRD : 02287 | ||
Vega : OTTHUMG00000022028 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_TIMM8A | |
BioGPS: 1678 | ||
Gene Expression Atlas: ENSG00000268249 | ||
The Human Protein Atlas: ENSG00000268249 | ||
Pathway | NCI Pathway Interaction Database: TIMM8A | |
KEGG: TIMM8A | ||
REACTOME: TIMM8A | ||
ConsensusPathDB | ||
Pathway Commons: TIMM8A | ||
Metabolism | MetaCyc: TIMM8A | |
HUMANCyc: TIMM8A | ||
Regulation | Ensembl's Regulation: ENSG00000268249 | |
miRBase: chrX :100,603,025-100,603,708 | ||
TargetScan: NM_001145951 | ||
cisRED: ENSG00000268249 | ||
Context | iHOP: TIMM8A | |
cancer metabolism search in PubMed: TIMM8A | ||
UCL Cancer Institute: TIMM8A | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for TIMM8A(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: TIMM8A |
Familial Cancer Database: TIMM8A |
* This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in |
cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_PROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: TIMM8A |
MedGen: TIMM8A (Human Medical Genetics with Condition) | |
ClinVar: TIMM8A | |
Phenotype | MGI: TIMM8A (International Mouse Phenotyping Consortium) |
PhenomicDB: TIMM8A |
Mutations for TIMM8A |
* Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows TIMM8A related fusion information. |
ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=8) | (# total SNVs=1) |
(# total SNVs=1) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
GRCh37 position | Mutation(aa) | Unique sampleID count |
chr23:100601521-100601521 | p.S87F | 2 |
chr23:100603598-100603598 | p.L19L | 1 |
chr23:100601542-100601542 | p.R80P | 1 |
chr23:100603603-100603603 | p.P17Q | 1 |
chr23:100601556-100601556 | p.Q75H | 1 |
chr23:100603636-100603636 | p.S6C | 1 |
chr23:100601575-100601575 | p.R69H | 1 |
chr23:100601582-100601582 | p.V67I | 1 |
chr23:100601591-100601591 | p.V64M | 1 |
chr23:100601606-100601606 | p.A59T | 1 |
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SNV Counts per Each Loci in TCGA data |
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Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
# sample | 1 | 1 |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   |   | 1 |   |   | 2 |
# mutation | 1 | 1 |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   |   | 1 |   |   | 2 |
nonsynonymous SNV | 1 | 1 |   | 1 |   |   |   |   |   |   |   | 1 |   |   |   |   | 1 |   |   | 2 |
synonymous SNV |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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Top 10 SNVs Having the Most Samples in TCGA data |
* We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
Genomic Position | Mutation(aa) | Unique sampleID count |
chrX:100601521 | p.S87F | 1 |
chrX:100601556 | p.Q75H | 1 |
chrX:100601575 | p.R69H | 1 |
chrX:100601582 | p.V67I | 1 |
chrX:100601591 | p.V64M | 1 |
chrX:100603562 | p.R31C,TIMM8A | 1 |
chrX:100603636 | p.S6C,TIMM8A | 1 |
Other DBs for Point Mutations |
Copy Number for TIMM8A in TCGA |
* Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, HNSC[Head and Neck squamous cell carcinoma], KICH[Kidney Chromophobe], KIRC[Kidney renal clear cell carcinoma], KIRP[Kidney renal papillary cell carcinoma], LAML[Acute Myeloid Leukemia], LUAD[Lung adenocarcinoma], LUSC[Lung squamous cell carcinoma], OV[Ovarian serous cystadenocarcinoma ], PAAD[Pancreatic adenocarcinoma], PRAD[Prostate adenocarcinoma], SKCM[Skin Cutaneous Melanoma], STAD[Stomach adenocarcinoma], THCA[Thyroid carcinoma], UCEC[Uterine Corpus Endometrial Carcinoma] |
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Gene Expression for TIMM8A |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
CDC123,CDC25A,CHEK2,ECE2,ERCC6L,AMER1,FAM136A, LSM2,LYAR,NDUFAF4,NKRF,NOP58,PDSS1,RPL36A, RPP40,SNRPD1,SUV39H2,TIMM8A,TUBA1C,UCK2,ZNF695 | KANSL2,CSE1L,HDAC2,LARS,METAP1,MRPS35,MRRF, MTPAP,NOL11,NUDT19,PAICS,PDSS1,PM20D2,PPAT, PRMT3,PSTPIP2,SUV39H2,TEX10,THNSL1,TIMM8A,WDR12 |
AIFM1,BRCC3,CXorf40B,DKC1,EMD,HAUS7,HDAC8, LAS1L,MCTS1,NAA10,NKAP,NKRF,NSDHL,PDZD11, PGRMC1,RBMX2,SUV39H1,TIMM8A,UTP14A,VBP1,VMA21 | C1QBP,CCT2,CECR5,CHAC2,DCAF13,DNAJA3,GMNN, HMBS,HN1L,HSPE1,INTS7,MRPS35,PGAM5,PHB, PTRH2,RPP40,SLC25A17,SRPRB,TIMM8A,TRNT1,WDR12 |
Co-Expressed gene's Protein-protein interaction Network Plot |
* Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for TIMM8A |
There's no related Drug. |
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Cross referenced IDs for TIMM8A |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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