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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AKR1C3 |
Basic gene info. | Gene symbol | AKR1C3 |
Gene name | aldo-keto reductase family 1, member C3 | |
Synonyms | DD3|DDX|HA1753|HAKRB|HAKRe|HSD17B5|PGFS|hluPGFS | |
Cytomap | UCSC genome browser: 10p15-p14 | |
Genomic location | chr10 :5136567-5140368 | |
Type of gene | protein-coding | |
RefGenes | NM_001253908.1, NM_001253909.1,NM_003739.5, | |
Ensembl id | ENSG00000265685 | |
Description | 3-alpha hydroxysteroid dehydrogenase, type II3-alpha-HSD type II, brainaldo-keto reductase family 1 member C3aldo-keto reductase family 1, member C3 (3-alpha hydroxysteroid dehydrogenase, type II)chlordecone reductase homolog HAKRbdihydrodiol dehydro | |
Modification date | 20141207 | |
dbXrefs | MIM : 603966 | |
HGNC : HGNC | ||
Ensembl : ENSG00000196139 | ||
HPRD : 04911 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AKR1C3 | |
BioGPS: 8644 | ||
Gene Expression Atlas: ENSG00000265685 | ||
The Human Protein Atlas: ENSG00000265685 | ||
Pathway | NCI Pathway Interaction Database: AKR1C3 | |
KEGG: AKR1C3 | ||
REACTOME: AKR1C3 | ||
ConsensusPathDB | ||
Pathway Commons: AKR1C3 | ||
Metabolism | MetaCyc: AKR1C3 | |
HUMANCyc: AKR1C3 | ||
Regulation | Ensembl's Regulation: ENSG00000265685 | |
miRBase: chr10 :5,136,567-5,140,368 | ||
TargetScan: NM_001253908 | ||
cisRED: ENSG00000265685 | ||
Context | iHOP: AKR1C3 | |
cancer metabolism search in PubMed: AKR1C3 | ||
UCL Cancer Institute: AKR1C3 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for AKR1C3(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: AKR1C3 |
Familial Cancer Database: AKR1C3 |
* 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_ARACHIDONIC_ACID_METABOLISM KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450 |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: AKR1C3 |
MedGen: AKR1C3 (Human Medical Genetics with Condition) | |
ClinVar: AKR1C3 | |
Phenotype | MGI: AKR1C3 (International Mouse Phenotyping Consortium) |
PhenomicDB: AKR1C3 |
Mutations for AKR1C3 |
* 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 AKR1C3 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 |
BE720028 | AKR1C3 | 19 | 276 | 10 | 5032057 | 5034107 | CLSTN1 | 277 | 550 | 1 | 9811552 | 9815257 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=19) | (# total SNVs=5) |
(# total SNVs=1) | (# total SNVs=0) |
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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 |
chr10:5144346-5144346 | p.S208S | 3 |
chr10:5141002-5141002 | p.E126D | 2 |
chr10:5141532-5141532 | p.C154F | 1 |
chr10:5136668-5136668 | p.N11T | 1 |
chr10:5144823-5144823 | p.R276H | 1 |
chr10:5139645-5139645 | p.R91Q | 1 |
chr10:5149692-5149692 | p.Y323* | 1 |
chr10:5141536-5141536 | p.K155K | 1 |
chr10:5136681-5136681 | p.F15L | 1 |
chr10:5147811-5147811 | p.E291K | 1 |
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SNV Counts per Each Loci in TCGA data |
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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 |   | 4 |   |   |   |   |   | 2 |   | 4 | 1 |   |   |   | 12 | 1 | 1 | 3 |
# mutation |   | 1 |   | 4 |   |   |   |   |   | 2 |   | 4 | 1 |   |   |   | 13 | 1 | 1 | 3 |
nonsynonymous SNV |   | 1 |   | 2 |   |   |   |   |   | 2 |   | 4 | 1 |   |   |   | 11 | 1 | 1 | 2 |
synonymous SNV |   |   |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   | 2 |   |   | 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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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 |
chr10:5144346 | p.S208S,AKR1C3 | 2 |
chr10:5141002 | p.E126E,AKR1C3 | 2 |
chr10:5144686 | p.E58D,AKR1C3 | 1 |
chr10:5138656 | p.R171S,AKR1C3 | 1 |
chr10:5141522 | p.S67R,AKR1C3 | 1 |
chr10:5147811 | p.P195S,AKR1C3 | 1 |
chr10:5138691 | p.T82N,AKR1C3 | 1 |
chr10:5141525 | p.S87C,AKR1C3 | 1 |
chr10:5147850 | p.W227L,AKR1C3 | 1 |
chr10:5138718 | p.R91Q,AKR1C3 | 1 |
Other DBs for Point Mutations |
Copy Number for AKR1C3 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] |
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Gene Expression for AKR1C3 |
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)) |
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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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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 |
AKR1B10,AKR1C1,AKR1C3,ALDH3A1,GAGE12J,GAGE13,GAGE2B, GAGE8,GPX2,GRIN2D,IQCF2,KRT13,LOC285629,NKX2-4, OPALIN,RBMXL2,UGT1A5,VCX,VCX3A,VCX3B,VCY | AIFM2,AKR1C1,AKR1C2,AKR1C3,ANXA5,APBB1IP,CYB5R3, EHD2,EPHX1,FADS3,GLYAT,GPER1,ITGB1BP1,ITPK1, MCAM,MGLL,MMP28,MRAP,SERPINF1,TFE3,TK2 | ||||
AKR1C1,AKR1C3,AKR1C4,CLN5,COMMD6,CRYL1,DEFB104A, GRTP1,HAO2,LRRC69,MED4,N6AMT2,OR10X1,PCID2, PIBF1,S100Z,SAP18,TGDS,TPT1,UBAC2,UNC5D | AKR1B10,AKR1C3,AKR7A3,BPHL,CENPV,CMBL,COQ4, CRYL1,GLUD1,GLYCTK,GRAMD1C,HADH,HSD17B11,NPY6R, NR1H3,PHYH,PPP1CC,RAB20,RBKS,RRAS2,TP53TG1 |
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 |
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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for AKR1C3 |
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 C3 | approved; nutraceutical | NADH | ||
DB00905 | aldo-keto reductase family 1, member C3 | approved; investigational | Bimatoprost | ||
DB01536 | aldo-keto reductase family 1, member C3 | illicit; experimental | 4-Androstenedione | ||
DB01698 | aldo-keto reductase family 1, member C3 | experimental | Rutin | ||
DB02056 | aldo-keto reductase family 1, member C3 | experimental | (5e,13e)-9,15-Dihydroxy-11-Oxoprosta-5,13-Dien-1-Oicacid | ||
DB02266 | aldo-keto reductase family 1, member C3 | experimental | Flufenamic Acid | ||
DB03461 | aldo-keto reductase family 1, member C3 | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ||
DB07700 | aldo-keto reductase family 1, member C3 | experimental | 3-CARBOXAMIDO-1,3,5(10)-ESTRATRIEN-17(R)-SPIRO-2'(5',5'-DIMETHYL-6'OXO)TETRAHYDROPYRAN | ||
DB00997 | aldo-keto reductase family 1, member C3 | approved; investigational | Doxorubicin | ||
DB00482 | aldo-keto reductase family 1, member C3 | approved; investigational | Celecoxib |
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Cross referenced IDs for AKR1C3 |
* 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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