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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ACAD8 |
Basic gene info. | Gene symbol | ACAD8 |
Gene name | acyl-CoA dehydrogenase family, member 8 | |
Synonyms | ACAD-8|ARC42 | |
Cytomap | UCSC genome browser: 11q25 | |
Genomic location | chr11 :134123433-134135746 | |
Type of gene | protein-coding | |
RefGenes | NM_014384.2, | |
Ensembl id | ENSG00000151498 | |
Description | activator-recruited cofactor 42 kDa componentacyl-Coenzyme A dehydrogenase family, member 8isobutyryl-CoA dehydrogenase, mitochondrial | |
Modification date | 20141207 | |
dbXrefs | MIM : 604773 | |
HGNC : HGNC | ||
Ensembl : ENSG00000151498 | ||
HPRD : 11985 | ||
Vega : OTTHUMG00000167177 | ||
Protein | UniProt: Q9UKU7 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACAD8 | |
BioGPS: 27034 | ||
Gene Expression Atlas: ENSG00000151498 | ||
The Human Protein Atlas: ENSG00000151498 | ||
Pathway | NCI Pathway Interaction Database: ACAD8 | |
KEGG: ACAD8 | ||
REACTOME: ACAD8 | ||
ConsensusPathDB | ||
Pathway Commons: ACAD8 | ||
Metabolism | MetaCyc: ACAD8 | |
HUMANCyc: ACAD8 | ||
Regulation | Ensembl's Regulation: ENSG00000151498 | |
miRBase: chr11 :134,123,433-134,135,746 | ||
TargetScan: NM_014384 | ||
cisRED: ENSG00000151498 | ||
Context | iHOP: ACAD8 | |
cancer metabolism search in PubMed: ACAD8 | ||
UCL Cancer Institute: ACAD8 | ||
Assigned class in ccmGDB | B - This gene belongs to cancer gene. |
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Phenotypic Information for ACAD8(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ACAD8 |
Familial Cancer Database: ACAD8 |
* 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/ |
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REACTOME_METABOLISM_OF_AMINO_ACIDS_AND_DERIVATIVES |
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OMIM | 604773; gene. 611283; phenotype. |
Orphanet | 79159; Isobutyryl-CoA dehydrogenase deficiency. |
Disease | KEGG Disease: ACAD8 |
MedGen: ACAD8 (Human Medical Genetics with Condition) | |
ClinVar: ACAD8 | |
Phenotype | MGI: ACAD8 (International Mouse Phenotyping Consortium) |
PhenomicDB: ACAD8 |
Mutations for ACAD8 |
* 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. |
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There's no structural variation information in COSMIC data for this gene. |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ACAD8 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 |
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There's no copy number variation information in COSMIC data for this gene. |
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Stat. for Non-Synonymous SNVs (# total SNVs=33) | (# total SNVs=13) |
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(# total SNVs=0) | (# total SNVs=0) |
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* 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 |
chr11:134131678-134131678 | p.A329V | 2 |
chr11:134131719-134131719 | p.E343K | 2 |
chr11:134131190-134131190 | p.A288V | 2 |
chr11:134131775-134131775 | p.E361E | 2 |
chr11:134130962-134130962 | p.R244* | 2 |
chr11:134128471-134128471 | p.P148L | 2 |
chr11:134127029-134127029 | p.F86F | 2 |
chr11:134131055-134131055 | p.G275R | 1 |
chr11:134127053-134127053 | p.D94D | 1 |
chr11:134131674-134131674 | p.A328T | 1 |
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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 |   | 5 | 2 |   | 3 |   | 2 |   |   | 4 | 1 | 1 |   |   | 1 | 4 |   | 8 |
# mutation | 1 | 1 |   | 4 | 2 |   | 3 |   | 2 |   |   | 4 | 1 | 1 |   |   | 1 | 4 |   | 8 |
nonsynonymous SNV | 1 | 1 |   | 2 | 2 |   | 3 |   | 1 |   |   | 3 | 1 | 1 |   |   | 1 | 4 |   | 5 |
synonymous SNV |   |   |   | 2 |   |   |   |   | 1 |   |   | 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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* 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 |
chr11:134127029 | p.F86F | 2 |
chr11:134127059 | p.G96G | 2 |
chr11:134131693 | p.G187G | 1 |
chr11:134128470 | p.R334H | 1 |
chr11:134130998 | p.E197G | 1 |
chr11:134131719 | p.E343K | 1 |
chr11:134128471 | p.R58R | 1 |
chr11:134131190 | p.T207A | 1 |
chr11:134126504 | p.M353V | 1 |
chr11:134131749 | p.A65V | 1 |
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* 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. |
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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 ACAD8 |
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* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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* 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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* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
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* 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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ACAA1,ACAD8,ACSM1,APLP2,AZGP1,C2CD2L,CES3, ECHDC2,GGT3P,GJB1,GLB1L2,HINFP,MUCL1,NCAPD3, NFRKB,SNX19,SPINK8,THYN1,TTC12,VPS11,VPS26B | ACAD8,APEH,BCKDHA,BDH1,C19orf54,COQ6,DCAF11, DNAJA3,CLUH,LIAS,MRPS18B,MRPS25,NDUFA10,OPLAH, PRMT7,RPAP1,SLC25A38,SLC37A4,TARS2,TRAP1,USP19 | ||||
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ACAD8,AP4B1,COQ9,CPT2,DLAT,EI24,FOXRED1, GPD1L,MCCC1,NDUFA10,NDUFV1,NGLY1,OXSM,RPUSD4, SDHD,SUCLG2,TAF6L,UQCRC2,USP28,VPS26B,ZW10 | ACAD8,AP3S2,ATP6V0D2,SMIM14,CA2,CPT2,CTSV, DTX4,ENTPD5,FBXO34,FUCA1,LRRC57,ME3,PDE6A, RNLS,SH3BGRL2,STAP2,SUCLG2,TCEA3,VAV3,ZNF124 |
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* 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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Pharmacological Information for ACAD8 |
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DB Category | DB Name | DB's ID and Url link |
Organism-specific databases | PharmGKB | PA24423; -. |
Organism-specific databases | CTD | 27034; -. |
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* Gene Centered Interaction Network. |
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* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB01675 | acyl-CoA dehydrogenase family, member 8 | experimental | Methacrylyl-Coenzyme A | ![]() | ![]() |
DB03147 | acyl-CoA dehydrogenase family, member 8 | experimental | Flavin-Adenine Dinucleotide | ![]() | ![]() |
DB00161 | acyl-CoA dehydrogenase family, member 8 | approved; nutraceutical | L-Valine | ![]() | ![]() |
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Cross referenced IDs for ACAD8 |
* 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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