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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ACSS2 |
Basic gene info. | Gene symbol | ACSS2 |
Gene name | acyl-CoA synthetase short-chain family member 2 | |
Synonyms | ACAS2|ACECS|ACS|ACSA|dJ1161H23.1 | |
Cytomap | UCSC genome browser: 20q11.22 | |
Genomic location | chr20 :33462765-33515769 | |
Type of gene | protein-coding | |
RefGenes | NM_001076552.2, NM_001242393.1,NM_018677.3,NM_139274.1, | |
Ensembl id | ENSG00000131069 | |
Description | acetate thiokinaseacetate-CoA ligaseacetyl-Coenzyme A synthetase 2 (ADP forming)acetyl-coenzyme A synthetase, cytoplasmicacyl-activating enzymecytoplasmic acetyl-coenzyme A synthetase | |
Modification date | 20141207 | |
dbXrefs | MIM : 605832 | |
HGNC : HGNC | ||
Ensembl : ENSG00000131069 | ||
Vega : OTTHUMG00000032317 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACSS2 | |
BioGPS: 55902 | ||
Gene Expression Atlas: ENSG00000131069 | ||
The Human Protein Atlas: ENSG00000131069 | ||
Pathway | NCI Pathway Interaction Database: ACSS2 | |
KEGG: ACSS2 | ||
REACTOME: ACSS2 | ||
ConsensusPathDB | ||
Pathway Commons: ACSS2 | ||
Metabolism | MetaCyc: ACSS2 | |
HUMANCyc: ACSS2 | ||
Regulation | Ensembl's Regulation: ENSG00000131069 | |
miRBase: chr20 :33,462,765-33,515,769 | ||
TargetScan: NM_001076552 | ||
cisRED: ENSG00000131069 | ||
Context | iHOP: ACSS2 | |
cancer metabolism search in PubMed: ACSS2 | ||
UCL Cancer Institute: ACSS2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ACSS2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ACSS2 |
Familial Cancer Database: ACSS2 |
* 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_GLYCOLYSIS_GLUCONEOGENESIS KEGG_PYRUVATE_METABOLISM KEGG_PROPANOATE_METABOLISM |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: ACSS2 |
MedGen: ACSS2 (Human Medical Genetics with Condition) | |
ClinVar: ACSS2 | |
Phenotype | MGI: ACSS2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ACSS2 |
Mutations for ACSS2 |
* 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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- Statistics for Tissue and Mutation type | Top |
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- For Inter-chromosomal Variations |
There's no inter-chromosomal structural variation. |
- For Intra-chromosomal Variations |
* Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
pancreas | ACSS2 | chr20 | 33489007 | 33489027 | ACSS2 | chr20 | 33489559 | 33489579 |
cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
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* From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ACSS2 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 |
BF763653 | ACSS2 | 14 | 322 | 20 | 33514932 | 33515240 | AMBRA1 | 316 | 400 | 11 | 46614870 | 46614954 |
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Mutation type/ Tissue ID | brca | cns | cerv | endome | haematopo | kidn | Lintest | liver | lung | ns | ovary | pancre | prost | skin | stoma | thyro | urina | |||
Total # sample | 2 |   |   |   |   |   | 1 |   |   |   |   |   |   |   | 1 |   |   | |||
GAIN (# sample) | 2 |   |   |   |   |   | 1 |   |   |   |   |   |   |   | 1 |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |
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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Stat. for Non-Synonymous SNVs (# total SNVs=38) | (# total SNVs=10) |
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(# total SNVs=2) | (# 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 |
chr20:33502196-33502196 | p.T264P | 6 |
chr20:33500927-33500927 | p.Q135E | 2 |
chr20:33500951-33500951 | p.V143F | 2 |
chr20:33507380-33507383 | p.? | 2 |
chr20:33509140-33509140 | p.R429W | 1 |
chr20:33509651-33509651 | p.G510G | 1 |
chr20:33501271-33501271 | p.A181V | 1 |
chr20:33514905-33514905 | p.R665L | 1 |
chr20:33508374-33508374 | p.L335L | 1 |
chr20:33500942-33500942 | p.Q140* | 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 | 9 |   |   | 1 |   | 4 |   |   | 7 | 2 |   |   |   | 3 | 5 |   | 4 |
# mutation | 1 |   | 1 | 7 |   |   | 1 |   | 4 |   |   | 8 | 2 |   |   |   | 4 | 5 |   | 6 |
nonsynonymous SNV |   |   | 1 | 7 |   |   | 1 |   | 3 |   |   | 5 | 1 |   |   |   | 3 | 4 |   | 6 |
synonymous SNV | 1 |   |   |   |   |   |   |   | 1 |   |   | 3 | 1 |   |   |   | 1 | 1 |   |   |
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 |
chr20:33501246 | p.L173I,ACSS2 | 2 |
chr20:33513509 | p.F398L,ACSS2 | 2 |
chr20:33509600 | p.R461W,ACSS2 | 2 |
chr20:33500968 | p.L199L,ACSS2 | 1 |
chr20:33514064 | p.S409S,ACSS2 | 1 |
chr20:33508433 | p.C237Y,ACSS2 | 1 |
chr20:33509634 | p.G410W,ACSS2 | 1 |
chr20:33500978 | p.S285A | 1 |
chr20:33514905 | p.G415G,ACSS2 | 1 |
chr20:33508829 | p.L197L,ACSS2 | 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 ACSS2 |
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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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ACSS2,AAR2,CEP250,CPNE1,DPM1,DYNLRB1,EDEM2, EIF6,ERGIC3,GJA10,GSS,HCCS,NCOA6,NFS1, OR9K2,PIGU,PIR,ROMO1,TMEM189,TRPC4AP,UQCC1 | ACADL,ACO1,ACOT1,ACOT2,ACSL1,ACSS2,AQP7, CIDEC,DGAT1,ECHS1,GBE1,GPD1,HEPN1,LPL, MARC1,MTHFD1,PECR,PEX19,PFKFB1,STBD1,TSPAN3 | ||||
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ACOT11,ACSS2,CCRL2,CHMP4B,CYP51A1,DHRS11,EPCAM, TMEM236,GSS,INSIG1,LSS,MOGAT3,MVD,NR1I2, SLC51B,PRSS8,SLC3A1,SLC44A4,TJP3,TMEM150B,TMEM82 | ACSS2,CAPN5,RHOV___CHP1,DNM2,KIAA1522,LGALS4,MARK2, MARVELD2,MARVELD3,MFSD11,MVP,NR2F6,PEX26,SLC22A5, ST14,TJP3,TMEM170A,TMEM171,TMEM8A,TNK1,TPRN |
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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 ACSS2 |
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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 |
DB00131 | acyl-CoA synthetase short-chain family member 2 | approved; nutraceutical | Adenosine monophosphate | ![]() | ![]() |
DB00171 | acyl-CoA synthetase short-chain family member 2 | approved; nutraceutical | Adenosine triphosphate | ![]() | ![]() |
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Cross referenced IDs for ACSS2 |
* 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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