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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for ACO2 |
Basic gene info. | Gene symbol | ACO2 |
Gene name | aconitase 2, mitochondrial | |
Synonyms | ACONM|ICRD | |
Cytomap | UCSC genome browser: 22q13.2 | |
Genomic location | chr22 :41865128-41924993 | |
Type of gene | protein-coding | |
RefGenes | NM_001098.2, | |
Ensembl id | ENSG00000100412 | |
Description | aconitate hydratase, mitochondrialcitrate hydro-lyase | |
Modification date | 20141207 | |
dbXrefs | MIM : 100850 | |
HGNC : HGNC | ||
Ensembl : ENSG00000100412 | ||
HPRD : 00012 | ||
Vega : OTTHUMG00000030544 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_ACO2 | |
BioGPS: 50 | ||
Gene Expression Atlas: ENSG00000100412 | ||
The Human Protein Atlas: ENSG00000100412 | ||
Pathway | NCI Pathway Interaction Database: ACO2 | |
KEGG: ACO2 | ||
REACTOME: ACO2 | ||
ConsensusPathDB | ||
Pathway Commons: ACO2 | ||
Metabolism | MetaCyc: ACO2 | |
HUMANCyc: ACO2 | ||
Regulation | Ensembl's Regulation: ENSG00000100412 | |
miRBase: chr22 :41,865,128-41,924,993 | ||
TargetScan: NM_001098 | ||
cisRED: ENSG00000100412 | ||
Context | iHOP: ACO2 | |
cancer metabolism search in PubMed: ACO2 | ||
UCL Cancer Institute: ACO2 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for ACO2(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: ACO2 |
Familial Cancer Database: ACO2 |
* 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_GLYOXYLATE_AND_DICARBOXYLATE_METABOLISM REACTOME_PYRUVATE_METABOLISM_AND_CITRIC_ACID_TCA_CYCLE REACTOME_METABOLISM_OF_PROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: ACO2 |
MedGen: ACO2 (Human Medical Genetics with Condition) | |
ClinVar: ACO2 | |
Phenotype | MGI: ACO2 (International Mouse Phenotyping Consortium) |
PhenomicDB: ACO2 |
Mutations for ACO2 |
* 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 |
* Inter-chromosomal variantions includes 'interchromosomal amplicon to amplicon', 'interchromosomal amplicon to non-amplified dna', 'interchromosomal insertion', 'Interchromosomal unknown type'. |
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- 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 | ACO2 | chr22 | 41878753 | 41878773 | ZC3H7B | chr22 | 41740739 | 41740759 |
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 ACO2 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 |
DA891854 | ACTB | 1 | 332 | 7 | 5568907 | 5570232 | ACO2 | 331 | 486 | 22 | 41903933 | 41907914 | |
DA577703 | SURF4 | 1 | 96 | 9 | 136242836 | 136242931 | ACO2 | 91 | 574 | 22 | 41921254 | 41923965 | |
CV352271 | CDK20 | 1 | 251 | 9 | 90582462 | 90584246 | ACO2 | 238 | 473 | 22 | 41903923 | 41923971 | |
AW379928 | ACO2 | 22 | 88 | 22 | 41903912 | 41903979 | EZR | 81 | 591 | 6 | 159236148 | 159236652 | |
BU849679 | TOB2 | 1 | 403 | 22 | 41842383 | 41842785 | ACO2 | 404 | 795 | 22 | 41895730 | 41904048 | |
BI000114 | COG7 | 1 | 316 | 16 | 23434484 | 23434797 | ACO2 | 303 | 512 | 22 | 41919719 | 41919928 | |
BI596363 | ANK2 | 6 | 185 | 4 | 114038165 | 114038344 | ACO2 | 185 | 648 | 22 | 41911472 | 41916222 |
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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=45) | (# total SNVs=17) |
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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 |
chr22:41922274-41922274 | p.G590G | 2 |
chr22:41913580-41913580 | p.S295S | 2 |
chr22:41911475-41911475 | p.G207V | 2 |
chr22:41903940-41903940 | p.M107V | 2 |
chr22:41911525-41911525 | p.L224L | 2 |
chr22:41924552-41924552 | p.E760K | 2 |
chr22:41918875-41918875 | p.G394R | 2 |
chr22:41895860-41895860 | p.R56H | 2 |
chr22:41924477-41924477 | p.? | 2 |
chr22:41865161-41865161 | p.Y4C | 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 | 5 | 4 |   | 4 |   |   | 3 |   | 1 |   |   | 4 | 3 | 1 |   |   | 8 | 9 |   | 9 |
# mutation | 5 | 4 |   | 4 |   |   | 3 |   | 1 |   |   | 4 | 3 | 1 |   |   | 8 | 9 |   | 12 |
nonsynonymous SNV | 2 | 3 |   | 3 |   |   | 2 |   |   |   |   | 1 | 3 | 1 |   |   | 4 | 5 |   | 7 |
synonymous SNV | 3 | 1 |   | 1 |   |   | 1 |   | 1 |   |   | 3 |   |   |   |   | 4 | 4 |   | 5 |
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 |
chr22:41913580 | p.S295S | 2 |
chr22:41865164 | p.S5I | 1 |
chr22:41919875 | p.G203G | 1 |
chr22:41904043 | p.S471F | 1 |
chr22:41922444 | p.A685V | 1 |
chr22:41913629 | p.L6L | 1 |
chr22:41924552 | p.V232M | 1 |
chr22:41865168 | p.T477T | 1 |
chr22:41919894 | p.I687I | 1 |
chr22:41907894 | p.R10G | 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 ACO2 |
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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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ACO2,ANKRD54,AP1B1,RTCB,ST13P4,L3MBTL2,MCAT, NDUFA6,NHP2L1,PHF5A,PMM1,POLDIP3,POLR3H,RANGAP1, SAMM50,SLC25A17,SREBF2,ST13,TOMM22,TXN2,XRCC6 | ACAT1,ACO2,ALPK3,ATP5B,ADCK3,CDK16,CHCHD10, CHCHD3,FH,GYS1,IMMT,MLYCD,NDUFS1,OGDH, PGM1,RAD23A,RXRG,SDHA,SDHB,SNTA1,UQCRFS1 |
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ACO2,ATP5B,RTCB,CHCHD10,CPT2,DDT,DEPDC5, FAM83F,GOT1,L3MBTL2,NDUFA6,PXMP2,SAMM50,SDHA, SH3BP1,SLC5A1,SREBF2,TTLL12,TXN2,UQCR10,UQCRC1 | ACO2,AGPAT3,ANKS4B,ANO10,CES2,CLPTM1,CRAT, DCAF11,DHRS11,GDPD2,GNA11,HADHA,KCNK5,LAMB3, MGAT4B,NGEF,PIGS,PNPLA6,POR,USH1C,VIL1 |
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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 ACO2 |
There's no related Drug. |
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Cross referenced IDs for ACO2 |
* 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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