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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ACOT12 |
Basic gene info. | Gene symbol | ACOT12 |
Gene name | acyl-CoA thioesterase 12 | |
Synonyms | CACH-1|Cach|STARD15|THEAL | |
Cytomap | UCSC genome browser: 5q14.1 | |
Genomic location | chr5 :80625946-80689988 | |
Type of gene | protein-coding | |
RefGenes | NM_130767.2, | |
Ensembl id | ENSG00000172497 | |
Description | START domain-containing protein 15StAR-related lipid transfer (START) domain containing 15acyl-CoA thioester hydrolase 12acyl-coenzyme A thioesterase 12cytoplasmic acetyl-CoA hydrolase 1cytosolic acetyl-CoA hydrolasehCACH-1 | |
Modification date | 20141207 | |
dbXrefs | MIM : 614315 | |
HGNC : HGNC | ||
Ensembl : ENSG00000172497 | ||
HPRD : 16680 | ||
Vega : OTTHUMG00000131305 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACOT12 | |
BioGPS: 134526 | ||
Gene Expression Atlas: ENSG00000172497 | ||
The Human Protein Atlas: ENSG00000172497 | ||
Pathway | NCI Pathway Interaction Database: ACOT12 | |
KEGG: ACOT12 | ||
REACTOME: ACOT12 | ||
ConsensusPathDB | ||
Pathway Commons: ACOT12 | ||
Metabolism | MetaCyc: ACOT12 | |
HUMANCyc: ACOT12 | ||
Regulation | Ensembl's Regulation: ENSG00000172497 | |
miRBase: chr5 :80,625,946-80,689,988 | ||
TargetScan: NM_130767 | ||
cisRED: ENSG00000172497 | ||
Context | iHOP: ACOT12 | |
cancer metabolism search in PubMed: ACOT12 | ||
UCL Cancer Institute: ACOT12 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ACOT12(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: ACOT12 |
Familial Cancer Database: ACOT12 |
* 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 | |
KEGG_PYRUVATE_METABOLISM |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: ACOT12 |
MedGen: ACOT12 (Human Medical Genetics with Condition) | |
ClinVar: ACOT12 | |
Phenotype | MGI: ACOT12 (International Mouse Phenotyping Consortium) |
PhenomicDB: ACOT12 |
Mutations for ACOT12 |
* 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 ACOT12 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 |
Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   | 1 |   |   |   |   |   |   |   |   |   |   |   |   |   |
cf) Tissue ID; Tissue type (1; Breast, 2; Central_nervous_system, 3; Cervix, 4; Endometrium, 5; Haematopoietic_and_lymphoid_tissue, 6; Kidney, 7; Large_intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary_tract) |
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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=42) | (# total SNVs=16) |
(# 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 |
chr5:80655779-80655779 | p.R147* | 4 |
chr5:80631636-80631636 | p.R405C | 4 |
chr5:80643615-80643615 | p.T211A | 2 |
chr5:80640000-80640000 | p.R320H | 2 |
chr5:80641770-80641770 | p.R236Q | 2 |
chr5:80655818-80655818 | p.H134Y | 2 |
chr5:80689868-80689868 | p.A22A | 2 |
chr5:80626663-80626663 | p.L496L | 2 |
chr5:80631635-80631635 | p.R405H | 2 |
chr5:80639994-80639994 | p.R322Q | 2 |
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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 |   | 2 | 9 | 2 |   | 3 |   | 1 |   |   | 9 | 2 | 2 |   | 1 | 11 | 6 | 1 | 7 |
# mutation | 1 |   | 2 | 10 | 2 |   | 3 |   | 1 |   |   | 9 | 2 | 2 |   | 1 | 11 | 6 | 1 | 10 |
nonsynonymous SNV |   |   | 1 | 6 | 1 |   | 2 |   | 1 |   |   | 5 | 1 | 1 |   | 1 | 9 | 5 | 1 | 7 |
synonymous SNV | 1 |   | 1 | 4 | 1 |   | 1 |   |   |   |   | 4 | 1 | 1 |   |   | 2 | 1 |   | 3 |
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 |
chr5:80631636 | p.R405C | 4 |
chr5:80631635 | p.R322Q | 2 |
chr5:80626663 | p.L496L | 2 |
chr5:80639994 | p.R405H | 2 |
chr5:80640000 | p.A364S | 1 |
chr5:80681586 | p.R219S | 1 |
chr5:80643593 | p.L129P | 1 |
chr5:80628307 | p.D353N | 1 |
chr5:80655735 | p.S218I | 1 |
chr5:80640015 | p.F108F | 1 |
Other DBs for Point Mutations |
Copy Number for ACOT12 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 ACOT12 |
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 |
ACOT12,APCS,APOA1,APOA2,APOA4,APOC3,C8A, CRP,F11,F2,F9,FGF23,GDF2,HP, ITIH1,KNG1,LEAP2,MT1DP,PLG,SERPINC1,SULT2A1 | ACOT12,ANKRD26P1,DRICH1,KHDC3L,CPSF4L,CYP11B2,DGCR10, DPPA5,FGF17,FLJ46361,GUCA1B,KDM4E,LOC100240726,LOC100272146, LOC256880,NYX,OR2F2,SPATA3,TBC1D26,TFAP2D,YJEFN3 |
ABCB5,ACOT12,ADAMTS8,AGTR2,C2orf40,ERICH6B,FRMPD4, IFNA17,KRTAP17-1,LOC388946,MASP1,NPHS2,OR10J1,OR1D2, OR5K2,PCP4L1,RANBP3L,RBM44,RRH,TPO,ZNF300 | ACE,ACOT12,AGXT2,ERICH4,C1orf105,CYP2D6,DEFA5, DEFA6,DHDH,DPEP1,ENPEP,GLTPD2,HAPLN4,PRODH, PRSS1,REG3A,SLC5A12,SLC5A9,SLC7A9,TM6SF2,TTC36 |
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 ACOT12 |
There's no related Drug. |
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Cross referenced IDs for ACOT12 |
* 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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