|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AKR1C2 |
Basic gene info. | Gene symbol | AKR1C2 |
Gene name | aldo-keto reductase family 1, member C2 | |
Synonyms | AKR1C-pseudo|BABP|DD|DD-2|DD/BABP|DD2|DDH2|HAKRD|HBAB|MCDR2|SRXY8|TDD | |
Cytomap | UCSC genome browser: 10p15-p14 | |
Genomic location | chr10 :5042102-5046206 | |
Type of gene | protein-coding | |
RefGenes | NM_001135241.2, NM_001354.5,NM_205845.2, | |
Ensembl id | ENSG00000265231 | |
Description | 3-alpha-HSD3aldo-keto reductase family 1 member C2chlordecone reductase homolog HAKRDdihydrodiol dehydrogenase 2; bile acid binding protein; 3-alpha hydroxysteroid dehydrogenase, type IIIpseudo-chlordecone reductasetesticular 17,20-desmolase deficien | |
Modification date | 20141207 | |
dbXrefs | MIM : 600450 | |
HGNC : HGNC | ||
Ensembl : ENSG00000151632 | ||
HPRD : 11857 | ||
Vega : OTTHUMG00000017584 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AKR1C2 | |
BioGPS: 1646 | ||
Gene Expression Atlas: ENSG00000265231 | ||
The Human Protein Atlas: ENSG00000265231 | ||
Pathway | NCI Pathway Interaction Database: AKR1C2 | |
KEGG: AKR1C2 | ||
REACTOME: AKR1C2 | ||
ConsensusPathDB | ||
Pathway Commons: AKR1C2 | ||
Metabolism | MetaCyc: AKR1C2 | |
HUMANCyc: AKR1C2 | ||
Regulation | Ensembl's Regulation: ENSG00000265231 | |
miRBase: chr10 :5,042,102-5,046,206 | ||
TargetScan: NM_001135241 | ||
cisRED: ENSG00000265231 | ||
Context | iHOP: AKR1C2 | |
cancer metabolism search in PubMed: AKR1C2 | ||
UCL Cancer Institute: AKR1C2 | ||
Assigned class in ccmGDB | C |
Top |
Phenotypic Information for AKR1C2(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: AKR1C2 |
Familial Cancer Database: AKR1C2 |
* 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/ |
Metabolic Pathway Description | |
KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450 |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: AKR1C2 |
MedGen: AKR1C2 (Human Medical Genetics with Condition) | |
ClinVar: AKR1C2 | |
Phenotype | MGI: AKR1C2 (International Mouse Phenotyping Consortium) |
PhenomicDB: AKR1C2 |
Mutations for AKR1C2 |
* 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 AKR1C2 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 |
Top |
Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
Top |
SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
|
Top |
Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=20) | (# total SNVs=30) |
(# total SNVs=0) | (# total SNVs=1) |
Top |
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 |
chr10:5037574-5037574 | p.L261L | 19 |
chr10:5046013-5046013 | p.Y5Y | 6 |
chr10:5040936-5040936 | p.M151V | 4 |
chr10:5040898-5040898 | p.I163M | 2 |
chr10:5041445-5041445 | p.D132Y | 2 |
chr10:5045953-5045953 | p.A25A | 2 |
chr10:5043729-5043729 | p.E77* | 2 |
chr10:5043762-5043762 | p.R66* | 1 |
chr10:5043771-5043771 | p.L63L | 1 |
chr10:5040915-5040915 | p.G158* | 1 |
Top |
SNV Counts per Each Loci in TCGA data |
|
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 |   | 3 | 2 | 3 |   |   |   |   | 1 |   |   | 1 |   |   |   |   | 3 |   |   | 4 |
# mutation |   | 3 | 1 | 3 |   |   |   |   | 1 |   |   | 1 |   |   |   |   | 3 |   |   | 4 |
nonsynonymous SNV |   | 3 | 1 | 2 |   |   |   |   |   |   |   | 1 |   |   |   |   | 3 |   |   | 2 |
synonymous SNV |   |   |   | 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]) |
Top |
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 |
chr10:5045953 | p.A25A,AKR1C2 | 2 |
chr10:5040936 | p.M151V,AKR1C2 | 2 |
chr10:5041445 | p.D132Y,AKR1C2 | 2 |
chr10:5042756 | p.S87G,AKR1C2 | 1 |
chr10:5042784 | p.A44V,AKR1C2 | 1 |
chr10:5042852 | p.P30S,AKR1C2 | 1 |
chr10:5034041 | p.V29G,AKR1C2 | 1 |
chr10:5043827 | p.M16V,AKR1C2 | 1 |
chr10:5037992 | p.R304Q,AKR1C2 | 1 |
chr10:5043870 | p.V212V,AKR1C2 | 1 |
Other DBs for Point Mutations |
Copy Number for AKR1C2 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] |
Top |
Gene Expression for AKR1C2 |
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)) |
Top |
CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
Top |
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 |
ACSM1,AFMID,AKR1C1,AKR1C2,AKR1D1,C15orf43,CLPSL1, C6orf223,CDC42EP5,EYS,GGT1,GGT3P,GGTLC1,GGTLC2, HAAO,HPD,KCNG2,SERHL2,SERHL,SPINK8,SULT1C3 | AIFM2,AKR1C1,AKR1C2,AKR1C3,ANXA5,APBB1IP,BHMT2, BTD,DHDDS,EPHX1,GCOM1,GLYAT,ITGB1BP1,ITIH5, ITPK1,MRAS,PALMD,PYGL,RETSAT,TK2,VKORC1L1 | ||||
ACSM5,ADIPOQ,AKR1C1,AKR1C2,AQP7,CD300LG,CD36, EPB42,FABP4,FMO2,LBP,LIPE,LOC339524,MRAP, PLIN1,PLIN4,PTCHD3,SPTA1,THRSP,TTTY9B,TUSC5 | ACAD11,ACBD4,AKR1C2,AKR1C3,BDH2,RITA1,C1orf189, CCNG1,COX6A2,CPNE7,CRIP3,DEGS2,GDPD1,GPX4, HSD17B11,LPO,LRRC28,SLC25A34,SLC30A2,UGT1A1,UNC93A |
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 |
Top |
Interacting Genes (from Pathway Commons) |
Top |
Pharmacological Information for AKR1C2 |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* Drug Centered Interaction Network. |
DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
DB00157 | aldo-keto reductase family 1, member C2 | approved; nutraceutical | NADH | ||
DB01586 | aldo-keto reductase family 1, member C2 | approved; investigational | Ursodeoxycholic acid | ||
DB03461 | aldo-keto reductase family 1, member C2 | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ||
DB07768 | aldo-keto reductase family 1, member C2 | experimental | (10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE |
Top |
Cross referenced IDs for AKR1C2 |
* We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
Copyright © 2016-Present - The Univsersity of Texas Health Science Center at Houston @ |