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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for AKR1A1 |
Basic gene info. | Gene symbol | AKR1A1 |
Gene name | aldo-keto reductase family 1, member A1 (aldehyde reductase) | |
Synonyms | ALDR1|ALR|ARM|DD3|HEL-S-6 | |
Cytomap | UCSC genome browser: 1p33-p32 | |
Genomic location | chr1 :46016454-46035723 | |
Type of gene | protein-coding | |
RefGenes | NM_001202414.1, NM_006066.3,NM_153326.2,NM_001202413.1, | |
Ensembl id | ENSG00000117448 | |
Description | HEL-S-165mPalcohol dehydrogenasealcohol dehydrogenase [NADP(+)]aldehyde reductasealdo-keto reductase family 1 member A1dihydrodiol dehydrogenase 3epididymis secretory protein Li 6epididymis secretory sperm binding protein Li 165mP | |
Modification date | 20141207 | |
dbXrefs | MIM : 103830 | |
HGNC : HGNC | ||
Ensembl : ENSG00000117448 | ||
HPRD : 00069 | ||
Vega : OTTHUMG00000007740 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_AKR1A1 | |
BioGPS: 10327 | ||
Gene Expression Atlas: ENSG00000117448 | ||
The Human Protein Atlas: ENSG00000117448 | ||
Pathway | NCI Pathway Interaction Database: AKR1A1 | |
KEGG: AKR1A1 | ||
REACTOME: AKR1A1 | ||
ConsensusPathDB | ||
Pathway Commons: AKR1A1 | ||
Metabolism | MetaCyc: AKR1A1 | |
HUMANCyc: AKR1A1 | ||
Regulation | Ensembl's Regulation: ENSG00000117448 | |
miRBase: chr1 :46,016,454-46,035,723 | ||
TargetScan: NM_001202414 | ||
cisRED: ENSG00000117448 | ||
Context | iHOP: AKR1A1 | |
cancer metabolism search in PubMed: AKR1A1 | ||
UCL Cancer Institute: AKR1A1 | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for AKR1A1(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: AKR1A1 |
Familial Cancer Database: AKR1A1 |
* 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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KEGG_GLYCOLYSIS_GLUCONEOGENESIS KEGG_GLYCEROLIPID_METABOLISM |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: AKR1A1 |
MedGen: AKR1A1 (Human Medical Genetics with Condition) | |
ClinVar: AKR1A1 | |
Phenotype | MGI: AKR1A1 (International Mouse Phenotyping Consortium) |
PhenomicDB: AKR1A1 |
Mutations for AKR1A1 |
* 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 |
There's no intra-chromosomal structural variation. |
Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
ovary | AKR1A1 | chr1 | 46025669 | 46025689 | ITPK1 | chr14 | 93425981 | 93426001 |
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 AKR1A1 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 |
AI110770 | AKR1A1 | 7 | 518 | 1 | 46033008 | 46033519 | MED20 | 517 | 634 | 6 | 41874553 | 41874670 | |
BF876342 | AKR1A1 | 18 | 273 | 1 | 46033778 | 46034033 | AKR1A1 | 269 | 393 | 1 | 46034458 | 46034582 | |
AF116602 | AKR1A1 | 7 | 518 | 1 | 46033008 | 46033519 | MED20 | 517 | 2095 | 6 | 41873092 | 41874670 | |
AF074677 | AKR1A1 | 7 | 518 | 1 | 46033008 | 46033519 | MED20 | 517 | 634 | 6 | 41874553 | 41874670 | |
AW613413 | AKR1A1 | 10 | 231 | 1 | 46034837 | 46035719 | CBY1 | 224 | 467 | 22 | 39067484 | 39067727 |
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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 | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 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=17) | (# total SNVs=12) |
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(# total SNVs=0) | (# 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 |
chr1:46027470-46027470 | p.A2T | 2 |
chr1:46034808-46034808 | p.? | 2 |
chr1:46034238-46034238 | p.P212S | 2 |
chr1:46034629-46034629 | p.I261I | 1 |
chr1:46032687-46032687 | p.A117A | 1 |
chr1:46034256-46034256 | p.R218G | 1 |
chr1:46034656-46034656 | p.I270I | 1 |
chr1:46033700-46033700 | p.Y135H | 1 |
chr1:46034257-46034257 | p.R218H | 1 |
chr1:46033709-46033709 | p.T138S | 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 | 2 |   |   | 2 | 1 |   |   |   | 1 |   |   | 2 | 2 | 2 |   | 1 | 4 | 1 | 1 | 5 |
# mutation | 2 |   |   | 2 | 1 |   |   |   | 1 |   |   | 2 | 2 | 2 |   | 1 | 3 | 1 | 1 | 5 |
nonsynonymous SNV |   |   |   |   | 1 |   |   |   | 1 |   |   |   |   | 2 |   | 1 | 2 | 1 |   | 1 |
synonymous SNV | 2 |   |   | 2 |   |   |   |   |   |   |   | 2 | 2 |   |   |   | 1 |   | 1 | 4 |
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 |
chr1:46034238 | p.P212S,AKR1A1 | 2 |
chr1:46033769 | p.R218G,AKR1A1 | 1 |
chr1:46034829 | p.V227A,AKR1A1 | 1 |
chr1:46033774 | p.E230E,AKR1A1 | 1 |
chr1:46035586 | p.A2T,AKR1A1 | 1 |
chr1:46027470 | p.Y241H,AKR1A1 | 1 |
chr1:46034216 | p.A2A,AKR1A1 | 1 |
chr1:46035600 | p.I259I,AKR1A1 | 1 |
chr1:46027472 | p.L7L,AKR1A1 | 1 |
chr1:46035610 | p.I261I,AKR1A1 | 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 AKR1A1 |
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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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AKR1A1,ATP6V0B,ATPIF1,AURKAIP1,C1orf123,PRADC1,COPE, EDF1,GALE,GMPPA,HECTD3,LSM10,LYPLA2,MRPL41, NAGK,PARK7,SEC61B,SRA1,TMEM53,UROD,ZBTB8OS | ADAM2,AFMID,AKR1A1,ALOX15B,B3GAT1,DHCR7,DHRS2, EBP,FDPS,G6PD,GGT1,GGTLC2,GUSB,HAAO, HIST1H3D,MFSD7,MVD,MVK,PNLIPRP3,SERHL2,SERHL | ||||
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ADPRHL2,AKR1A1,AURKAIP1,SMIM12,C1orf50,COQ4,ECI1, DPM3,EIF3I,LAMTOR5,IFI27L1,NDUFA6,OSGEP,PEF1, PPCS,PSMD9,RER1,SCO2,TMEM125,TSPO,TXN2 | ACY3,AKR1A1,FUOM,TMEM256,IDNK,CBR1,DDC, DHRS4L2,F11,RMDN3,GALK1,GCHFR,HACL1,MMEL1, MOCOS,PFKFB4,SAT2,SERPINA1,SLC37A4,TFEC,TMEM92 |
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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 AKR1A1 |
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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 |
DB01907 | aldo-keto reductase family 1, member A1 (aldehyde reductase) | experimental | Nicotinamide-Adenine-Dinucleotide | ![]() | ![]() |
DB02383 | aldo-keto reductase family 1, member A1 (aldehyde reductase) | experimental | Tolrestat | ![]() | ![]() |
DB03461 | aldo-keto reductase family 1, member A1 (aldehyde reductase) | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ![]() | ![]() |
DB00997 | aldo-keto reductase family 1, member A1 (aldehyde reductase) | approved; investigational | Doxorubicin | ![]() | ![]() |
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Cross referenced IDs for AKR1A1 |
* 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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