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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AKR1D1 |
Basic gene info. | Gene symbol | AKR1D1 |
Gene name | aldo-keto reductase family 1, member D1 | |
Synonyms | 3o5bred|CBAS2|SRD5B1 | |
Cytomap | UCSC genome browser: 7q32-q33 | |
Genomic location | chr7 :137761177-137803050 | |
Type of gene | protein-coding | |
RefGenes | NM_001190906.1, NM_001190907.1,NM_005989.3, | |
Ensembl id | ENSG00000122787 | |
Description | 3-oxo-5-beta-steroid 4-dehydrogenasedelta 4-3-ketosteroid-5-beta-reductasedelta(4)-3-ketosteroid 5-beta-reductasedelta(4)-3-oxosteroid 5-beta-reductasesteroid-5-beta-reductase, beta polypeptide 1 (3-oxo-5 beta-steroid delta 4-dehydrogenase beta 1) | |
Modification date | 20141211 | |
dbXrefs | MIM : 604741 | |
HGNC : HGNC | ||
Ensembl : ENSG00000122787 | ||
HPRD : 07263 | ||
Vega : OTTHUMG00000155787 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AKR1D1 | |
BioGPS: 6718 | ||
Gene Expression Atlas: ENSG00000122787 | ||
The Human Protein Atlas: ENSG00000122787 | ||
Pathway | NCI Pathway Interaction Database: AKR1D1 | |
KEGG: AKR1D1 | ||
REACTOME: AKR1D1 | ||
ConsensusPathDB | ||
Pathway Commons: AKR1D1 | ||
Metabolism | MetaCyc: AKR1D1 | |
HUMANCyc: AKR1D1 | ||
Regulation | Ensembl's Regulation: ENSG00000122787 | |
miRBase: chr7 :137,761,177-137,803,050 | ||
TargetScan: NM_001190906 | ||
cisRED: ENSG00000122787 | ||
Context | iHOP: AKR1D1 | |
cancer metabolism search in PubMed: AKR1D1 | ||
UCL Cancer Institute: AKR1D1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for AKR1D1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: AKR1D1 |
Familial Cancer Database: AKR1D1 |
* This gene is included in those cancer gene databases. |
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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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REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: AKR1D1 |
MedGen: AKR1D1 (Human Medical Genetics with Condition) | |
ClinVar: AKR1D1 | |
Phenotype | MGI: AKR1D1 (International Mouse Phenotyping Consortium) |
PhenomicDB: AKR1D1 |
Mutations for AKR1D1 |
* 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 AKR1D1 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 |
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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 |   | 1 |   |   |   |   |   |   | 1 |   | 1 |   |   |   | 1 |   |   | |||
GAIN (# sample) |   | 1 |   |   |   |   |   |   | 1 |   | 1 |   |   |   |   |   |   | |||
LOSS (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 1 |   |   |
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=37) | (# total SNVs=12) |
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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 |
chr7:137792315-137792315 | p.E282* | 3 |
chr7:137798460-137798460 | p.E294K | 3 |
chr7:137761356-137761356 | p.S31L | 3 |
chr7:137790074-137790074 | p.A160T | 3 |
chr7:137773491-137773491 | p.E80K | 3 |
chr7:137761296-137761296 | p.P11L | 2 |
chr7:137776547-137776547 | p.R99C | 2 |
chr7:137792252-137792252 | p.R261C | 2 |
chr7:137792289-137792289 | p.K273R | 2 |
chr7:137776624-137776624 | p.A124A | 2 |
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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 | 2 | 1 |   | 4 |   |   | 3 |   | 1 |   |   | 7 | 4 | 1 |   |   | 20 | 3 | 1 | 6 |
# mutation | 2 | 1 |   | 4 |   |   | 3 |   | 1 |   |   | 7 | 4 | 1 |   |   | 21 | 4 | 1 | 9 |
nonsynonymous SNV | 2 | 1 |   | 4 |   |   | 2 |   |   |   |   | 5 | 3 |   |   |   | 13 | 3 |   | 7 |
synonymous SNV |   |   |   |   |   |   | 1 |   | 1 |   |   | 2 | 1 | 1 |   |   | 8 | 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 |
chr7:137776547 | p.R99C,AKR1D1 | 3 |
chr7:137801379 | p.P277S,AKR1D1 | 2 |
chr7:137792252 | p.R220C,AKR1D1 | 2 |
chr7:137773395 | p.G48R,AKR1D1 | 2 |
chr7:137790090 | p.K126K,AKR1D1 | 1 |
chr7:137761277 | p.V192D,AKR1D1 | 1 |
chr7:137773466 | p.R50R,AKR1D1 | 1 |
chr7:137792239 | p.G128R,AKR1D1 | 1 |
chr7:137776630 | p.L198V,AKR1D1 | 1 |
chr7:137790091 | p.H282N,AKR1D1 | 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 AKR1D1 |
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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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AACS,AKR1D1,CLPSL1,C6orf223,FCN2,FKBP5,GGT1, GGTLC1,GUSB,LDHD,LOC91948,LST-3TM12,MYOM2,RLN3, RNASE11,RNASE12,SERHL2,SERHL,SLCO1B1,SPINK8,SULT1C3 | ABCC11,ABCC12,ABCC2,AFMID,AKR1D1,ALOX15B,C15orf43, C6orf223,CHRNA2,EPS8L3,HPGD,IDI1,INSM2,IYD, LST-3TM12,RIMS1,SLC26A6,SLCO1B1,TARP,TMPRSS11F,ZP2 | ||||
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AKR1D1,ZC2HC1B,CCND3,CLDN25,EFR3B,EIF4ENIF1,F11, SPATA31D4,IFNW1,MED20,PEX6,PIPOX,PISD,PLEKHG6, PPP2R5D,PTPN6,RFPL3,RHAG,RNF185,TAF8,TNFRSF1A | AKR1D1,C11orf40,DGCR10,FAM58BP,GAS6-AS2,HHLA1,HORMAD2, HTR3D,OR11H12,OR1B1,OR2AK2,FOXN3-AS2,RDH8,SNORA54, SPINK9,SSX3,STARD6,TPI1P3,UBE2J1,UTS2B,ZNF215 |
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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 AKR1D1 |
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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 |
DB00548 | aldo-keto reductase family 1, member D1 | approved | Azelaic Acid | ![]() | ![]() |
DB01216 | aldo-keto reductase family 1, member D1 | approved | Finasteride | ![]() | ![]() |
DB07447 | aldo-keto reductase family 1, member D1 | experimental | 5-beta-DIHYDROTESTOSTERONE | ![]() | ![]() |
DB07557 | aldo-keto reductase family 1, member D1 | experimental | (5BETA)-PREGNANE-3,20-DIONE | ![]() | ![]() |
DB00145 | aldo-keto reductase family 1, member D1 | approved; nutraceutical | Glycine | ![]() | ![]() |
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Cross referenced IDs for AKR1D1 |
* 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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