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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for SRD5A3 |
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Phenotypic Information for SRD5A3(metabolism pathway, cancer, disease, phenome) |
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Cancer | CGAP: SRD5A3 |
Familial Cancer Database: SRD5A3 |
* 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/ |
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REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
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OMIM | |
Orphanet | |
Disease | KEGG Disease: SRD5A3 |
MedGen: SRD5A3 (Human Medical Genetics with Condition) | |
ClinVar: SRD5A3 | |
Phenotype | MGI: SRD5A3 (International Mouse Phenotyping Consortium) |
PhenomicDB: SRD5A3 |
Mutations for SRD5A3 |
* 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 SRD5A3 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 |
AI906091 | SRD5A3 | 1 | 87 | 4 | 56225564 | 56225650 | SRD5A3 | 84 | 241 | 4 | 56230240 | 56230397 |
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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 |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
GAIN (# sample) |   | 2 |   |   |   |   |   |   |   |   |   |   |   |   |   |   |   | |||
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=19) | (# total SNVs=8) |
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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 |
chr4:56230311-56230311 | p.F145F | 3 |
chr4:56236065-56236065 | p.N255I | 2 |
chr4:56212685-56212685 | p.S61L | 2 |
chr4:56236183-56236183 | p.L294L | 2 |
chr4:56225634-56225634 | p.L115I | 2 |
chr4:56212510-56212510 | p.P3S | 1 |
chr4:56225643-56225643 | p.A118T | 1 |
chr4:56212671-56212671 | p.K56K | 1 |
chr4:56230247-56230247 | p.E124G | 1 |
chr4:56236091-56236091 | p.V264I | 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 | 1 |   | 2 | 3 | 1 |   | 2 |   | 1 |   |   | 8 | 2 |   |   |   | 2 | 4 |   | 3 |
# mutation | 1 |   | 2 | 3 | 1 |   | 2 |   | 1 |   |   | 8 | 2 |   |   |   | 2 | 4 |   | 3 |
nonsynonymous SNV |   |   | 1 | 1 |   |   | 1 |   |   |   |   | 4 | 2 |   |   |   | 1 | 2 |   | 3 |
synonymous SNV | 1 |   | 1 | 2 | 1 |   | 1 |   | 1 |   |   | 4 |   |   |   |   | 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 |
chr4:56236183 | p.L294L | 2 |
chr4:56230311 | p.L115F | 2 |
chr4:56225634 | p.F145F | 2 |
chr4:56212626 | p.I45M | 1 |
chr4:56230247 | p.M208V | 1 |
chr4:56212638 | p.K56K | 1 |
chr4:56230251 | p.C238S | 1 |
chr4:56236191 | p.S61L | 1 |
chr4:56212671 | p.E249K | 1 |
chr4:56236195 | p.P63P | 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 SRD5A3 |
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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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ABCC12,MAB21L3,HILPDA,DBI,ERO1L,FABP6,FUT3, GGCT,GGT1,GGTLC1,IDH1,KMO,KYNU,MUCL1, PDZK1IP1,MSMO1,SERHL2,SLC31A1,SRD5A3,TMEM165,TRPV6 | AGA,C14orf1,COMMD7,DERL2,DPAGT1,G6PC3,GGPS1, HIST1H2BK,MPDU1,MPV17,ORMDL2,PGRMC1,PRDX1,SLC50A1, REEP5,SLC25A17,SPCS1,SRD5A3,TMBIM6,TMCO1,TMEM59 |
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AGR2,ANG,ARFGAP3,TMEM263,GSKIP,CD55,CHST5, CREB3L1,FAM177B,GALNT3,GALNT7,KDELR3,MLPH,REG4, RNASE4,SDR16C5,SLC35A1,SRD5A3,TC2N,TSPAN13,UAP1 | ACAT2,C20orf141,NCOR1P1,BPIFA2,CLEC4G,FDFT1,GPX5, KPRP,LCE2C,MEPE,CHODL-AS1,OR1F2P,OR2D2,PGLYRP3, PLA2G4D,RARRES1,SNORA79,SPATS1,SRD5A3,TRIM6-TRIM34,ZSWIM2 |
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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 SRD5A3 |
There's no related Drug. |
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Cross referenced IDs for SRD5A3 |
* 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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