|
Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for SRD5A1 |
Basic gene info. | Gene symbol | SRD5A1 |
Gene name | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) | |
Synonyms | S5AR 1 | |
Cytomap | UCSC genome browser: 5p15 | |
Genomic location | chr5 :6633499-6669675 | |
Type of gene | protein-coding | |
RefGenes | NM_001047.2, | |
Ensembl id | ENSG00000145545 | |
Description | 3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 13-oxo-5-alpha-steroid 4-dehydrogenase 15-alpha reductaseSR type 1steroid 5-alpha-reductase 1steroid 5-alpha-reductase type I | |
Modification date | 20141207 | |
dbXrefs | MIM : 184753 | |
HGNC : HGNC | ||
Ensembl : ENSG00000145545 | ||
HPRD : 01699 | ||
Vega : OTTHUMG00000090456 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SRD5A1 | |
BioGPS: 6715 | ||
Gene Expression Atlas: ENSG00000145545 | ||
The Human Protein Atlas: ENSG00000145545 | ||
Pathway | NCI Pathway Interaction Database: SRD5A1 | |
KEGG: SRD5A1 | ||
REACTOME: SRD5A1 | ||
ConsensusPathDB | ||
Pathway Commons: SRD5A1 | ||
Metabolism | MetaCyc: SRD5A1 | |
HUMANCyc: SRD5A1 | ||
Regulation | Ensembl's Regulation: ENSG00000145545 | |
miRBase: chr5 :6,633,499-6,669,675 | ||
TargetScan: NM_001047 | ||
cisRED: ENSG00000145545 | ||
Context | iHOP: SRD5A1 | |
cancer metabolism search in PubMed: SRD5A1 | ||
UCL Cancer Institute: SRD5A1 | ||
Assigned class in ccmGDB | C |
Top |
Phenotypic Information for SRD5A1(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: SRD5A1 |
Familial Cancer Database: SRD5A1 |
* 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 | |
REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: SRD5A1 |
MedGen: SRD5A1 (Human Medical Genetics with Condition) | |
ClinVar: SRD5A1 | |
Phenotype | MGI: SRD5A1 (International Mouse Phenotyping Consortium) |
PhenomicDB: SRD5A1 |
Mutations for SRD5A1 |
* 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 SRD5A1 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 |
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 |   |   | |||
GAIN (# sample) |   |   |   |   |   |   |   |   |   |   |   |   |   |   | 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) |
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=24) | (# total SNVs=9) |
(# total SNVs=0) | (# total SNVs=0) |
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 |
chr5:6662995-6662995 | p.A210V | 3 |
chr5:6633779-6633779 | p.R30R | 3 |
chr5:6668359-6668359 | p.I253S | 2 |
chr5:6656210-6656210 | p.T160T | 2 |
chr5:6656219-6656219 | p.L163F | 2 |
chr5:6663040-6663040 | p.T225M | 2 |
chr5:6652030-6652030 | p.F123F | 2 |
chr5:6651954-6651954 | p.? | 1 |
chr5:6668325-6668325 | p.R242W | 1 |
chr5:6652106-6652106 | p.P149S | 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 | 2 | 1 |   | 2 | 1 |   |   |   | 2 |   |   | 3 | 3 |   |   |   | 4 | 3 |   | 6 |
# mutation | 2 | 1 |   | 2 | 1 |   |   |   | 2 |   |   | 4 | 3 |   |   |   | 4 | 3 |   | 6 |
nonsynonymous SNV | 1 | 1 |   | 2 | 1 |   |   |   | 2 |   |   | 4 | 1 |   |   |   | 2 | 2 |   | 3 |
synonymous SNV | 1 |   |   |   |   |   |   |   |   |   |   |   | 2 |   |   |   | 2 | 1 |   | 3 |
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 |
chr5:6656219 | p.A210V | 2 |
chr5:6668359 | p.I253S | 2 |
chr5:6662995 | p.L163F | 2 |
chr5:6656213 | p.I171I | 1 |
chr5:6663031 | p.A4A | 1 |
chr5:6633926 | p.E205K | 1 |
chr5:6663040 | p.P67A | 1 |
chr5:6633927 | p.L79L | 1 |
chr5:6656237 | p.L211M | 1 |
chr5:6663054 | p.R80C | 1 |
Other DBs for Point Mutations |
Copy Number for SRD5A1 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 SRD5A1 |
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 |
AADAT,ACSM1,AKR1B15,AKR1D1,C6orf223,EYS,FKBP5, IDI1,ISX,LOC255167,LOC91948,LST-3TM12,MYOM2,NSUN2, PNLIPRP3,RLN3,RNASE12,SLCO1B1,SPINK8,SRD5A1,SULT1C3 | ABCC11,ACSL3,ADAM2,AFMID,ALOX15B,B3GAT1,C6orf223, DHRS2,GGT1,HPGD,IDI1,MPV17L,NSUN2,PNLIPRP3, SERHL2,SERHL,SRD5A1,TARP,UGT2B10,UGT2B11,UGT2B28 | ||||
AIMP2,BRIX1,C5orf22,CCT5,CCT6A,DAOA,DDX10, DNAJC21,EIF3J,FASTKD3,MED10,MRPS30,NSUN2,POLD2, DROSHA,RPL37,SRD5A1,TARS,TRIP13,WDR70,ZNF131 | ACAD10,ACADS,ACSF3,SOWAHB,ANO10,ATP8A1,CBLC, DQX1,ERBB2,HADHA,LRRC6,PBLD,PPAP2C,RNF135, SEPSECS,SPHK2,SRD5A1,STK38,TMEM19,TNK1,VPS16 |
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 SRD5A1 |
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 |
DB00367 | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) | approved; investigational | Levonorgestrel | ||
DB01126 | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) | approved; investigational | Dutasteride | ||
DB01216 | steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) | approved | Finasteride |
Top |
Cross referenced IDs for SRD5A1 |
* 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 @ |