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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ACAA1 |
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Phenotypic Information for ACAA1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ACAA1 |
Familial Cancer Database: ACAA1 |
* This gene is included in those cancer gene databases. |
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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KEGG_FATTY_ACID_METABOLISM REACTOME_PEROXISOMAL_LIPID_METABOLISM REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
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Disease | KEGG Disease: ACAA1 |
MedGen: ACAA1 (Human Medical Genetics with Condition) | |
ClinVar: ACAA1 | |
Phenotype | MGI: ACAA1 (International Mouse Phenotyping Consortium) |
PhenomicDB: ACAA1 |
Mutations for ACAA1 |
* 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 ACAA1 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 |
DA055429 | PYGB | 1 | 514 | 20 | 25228918 | 25255316 | ACAA1 | 514 | 581 | 3 | 38168011 | 38168078 | |
AA405551 | ACAA1 | 53 | 278 | 3 | 38167318 | 38167810 | ACAA1 | 276 | 407 | 3 | 38168030 | 38168161 | |
BF859008 | ACAA1 | 30 | 254 | 3 | 38168146 | 38170880 | ACAA1 | 249 | 334 | 3 | 38168057 | 38168142 |
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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=20) | (# total SNVs=3) |
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(# total SNVs=1) | (# 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 |
chr3:38169314-38169314 | p.E197K | 2 |
chr3:38164614-38164614 | p.? | 2 |
chr3:38167784-38167784 | p.R289Q | 2 |
chr3:38167138-38167138 | p.V373M | 2 |
chr3:38167184-38167184 | p.E357D | 2 |
chr3:38167344-38167344 | p.F342F | 2 |
chr3:38173449-38173449 | p.S124L | 2 |
chr3:38173488-38173488 | p.P111L | 1 |
chr3:38167752-38167752 | p.I300V | 1 |
chr3:38169316-38169316 | p.R196Q | 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 |   |   | 8 | 1 |   |   |   |   | 2 |   | 1 | 1 | 1 |   | 1 | 5 | 3 |   | 4 |
# mutation | 1 |   |   | 8 | 1 |   |   |   |   | 2 |   | 1 | 1 | 1 |   | 1 | 5 | 3 |   | 4 |
nonsynonymous SNV | 1 |   |   | 6 | 1 |   |   |   |   | 2 |   |   | 1 |   |   | 1 | 5 | 1 |   | 4 |
synonymous SNV |   |   |   | 2 |   |   |   |   |   |   |   | 1 |   | 1 |   |   |   | 2 |   |   |
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 |
chr3:38175457 | p.I103I,ACAA1 | 2 |
chr3:38167171 | p.E250K,ACAA1 | 1 |
chr3:38168161 | p.A147T,ACAA1 | 1 |
chr3:38175461 | p.F249F,ACAA1 | 1 |
chr3:38167343 | p.S125L,ACAA1 | 1 |
chr3:38168168 | p.A322S | 1 |
chr3:38175462 | p.P111P,ACAA1 | 1 |
chr3:38167344 | p.I300V | 1 |
chr3:38169314 | p.P111L,ACAA1 | 1 |
chr3:38175476 | p.P299A | 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 ACAA1 |
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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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ABHD14A,ACAA1,ACY1,AZGP1,ELP6,CCDC12,CYB561D2, DCXR,DHRS4,DHRS4L2,ECHDC2,EDF1,ENDOG,FKBP2, GSTZ1,LOC440957,MRPL41,REEP6,TEX264,TUSC2,UQCRC1 | ACAA1,ACSF2,RBFA,CHMP2A,DHRS4,DHRS4L2,ILVBL, KLHL22,LOC729991,LONP1,LRPAP1,PEX10,PFKL,RAB1B, SCYL1,SDF4,SIL1,SNF8,SPR,TOLLIP,UBXN6 | ||||
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ACAA1,ACY1,AIM1L,APEH,ARPC4,ATPIF1,CCDC12, COMTD1,GIPC1,LYPLA2,LYPLA2P1,MRPS25,PKP3,SLC22A18, SLC22A18AS,TALDO1,TMEM54,TUSC2,UQCRC1,VAMP8,ZDHHC3 | ACAA1,C1orf106,C2CD2L,CLRN3,FTH1,FTH1P3,GCOM1, HECTD3,HTATIP2,KCNK5,PLEKHG6,PRKCD,PRR13,RIOK3, SDCBP2,SPINT1,SPINT2,SULT1A2,TUBAL3,VILL,ZNF57 |
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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 ACAA1 |
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DB Category | DB Name | DB's ID and Url link |
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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 |
DB02713 | acetyl-CoA acyltransferase 1 | experimental | Acetylamino-Acetic Acid | ![]() | ![]() |
DB03085 | acetyl-CoA acyltransferase 1 | experimental | Hydroxyacetic Acid | ![]() | ![]() |
DB03147 | acetyl-CoA acyltransferase 1 | experimental | Flavin-Adenine Dinucleotide | ![]() | ![]() |
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Cross referenced IDs for ACAA1 |
* 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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