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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
Gene Summary for SC5D |
Basic gene info. | Gene symbol | SC5D |
Gene name | sterol-C5-desaturase | |
Synonyms | ERG3|S5DES|SC5DL | |
Cytomap | UCSC genome browser: 11q23.3 | |
Genomic location | :- | |
Type of gene | protein-coding | |
RefGenes | NM_001024956.2, NM_006918.4, | |
Ensembl id | N/A | |
Description | 3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenaselathosterol oxidasesterol-C5-desaturase (ERG3 delta-5-desaturase homolog, S. | |
Modification date | 20141207 | |
dbXrefs | MIM : 602286 | |
HGNC : HGNC | ||
HPRD : 09078 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_SC5D | |
BioGPS: 6309 | ||
Gene Expression Atlas: N/A | ||
The Human Protein Atlas: N/A | ||
Pathway | NCI Pathway Interaction Database: SC5D | |
KEGG: SC5D | ||
REACTOME: SC5D | ||
ConsensusPathDB | ||
Pathway Commons: SC5D | ||
Metabolism | MetaCyc: SC5D | |
HUMANCyc: SC5D | ||
Regulation | Ensembl's Regulation: N/A | |
miRBase: :- | ||
TargetScan: NM_001024956 | ||
cisRED: N/A | ||
Context | iHOP: SC5D | |
cancer metabolism search in PubMed: SC5D | ||
UCL Cancer Institute: SC5D | ||
Assigned class in ccmGDB | C |
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Phenotypic Information for SC5D(metabolism pathway, cancer, disease, phenome) |
Cancer Description | |
Cancer | CGAP: SC5D |
Familial Cancer Database: SC5D |
* 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/ |
Metabolic Pathway Description | |
Nat Rev Drug Discovery, 2013, 12: 829, doi: 10.1038/nrd4145 |
Others | |
OMIM | |
Orphanet | |
Disease | KEGG Disease: SC5D |
MedGen: SC5D (Human Medical Genetics with Condition) | |
ClinVar: SC5D | |
Phenotype | MGI: SC5D (International Mouse Phenotyping Consortium) |
PhenomicDB: SC5D |
Mutations for SC5D |
* 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 SC5D 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 |
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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=0) | (# total SNVs=0) |
(# total SNVs=0) | (# 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 |
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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 |   |   | 10 |   |   | 2 |   | 1 |   |   | 6 | 1 | 1 |   |   | 2 | 4 |   | 3 |
# mutation | 1 |   |   | 10 |   |   | 2 |   | 1 |   |   | 6 | 1 | 1 |   |   | 2 | 4 |   | 3 |
nonsynonymous SNV | 1 |   |   | 9 |   |   |   |   | 1 |   |   | 6 | 1 |   |   |   | 2 | 3 |   | 3 |
synonymous SNV |   |   |   | 1 |   |   | 2 |   |   |   |   |   |   | 1 |   |   |   | 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 |
chr11:121174120 | p.V120A,SC5D | 2 |
chr11:121177110 | p.F12L,SC5D | 2 |
chr11:121174140 | p.R214H,SC5D | 1 |
chr11:121177782 | p.D26H,SC5D | 1 |
chr11:121178097 | p.F222C,SC5D | 1 |
chr11:121174160 | p.V40A,SC5D | 1 |
chr11:121177854 | p.F235L,SC5D | 1 |
chr11:121178115 | p.S53I,SC5D | 1 |
chr11:121174203 | p.F236F,SC5D | 1 |
chr11:121177872 | p.V57V,SC5D | 1 |
Other DBs for Point Mutations |
Copy Number for SC5D 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 SC5D |
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 |
ACSM1,ACSM3,ADH1C,AKR1B15,AKR1D1,EYS,IDI1, ISX,KPNA7,LOC255167,LOC91948,LST-3TM12,MYOM2,RLN3, RNASE11,RNASE12,SC5D,SCP2,SPINK8,SULT1C3,WDR64 | ABCC11,ACSL3,ADAM2,ALOX15B,C15orf43,CCDC15,EPS8L3, FADS2,HPGD,IDI1,IYD,LONP2,LST-3TM12,MPV17L, PNLIPRP3,SC5D,SCP2,SERHL,SULT1C3,TMPRSS11F,UGT2B11 |
AASDHPPT,ACAT2,CYP51A1,DHCR7,HMGCR,HMGCS1,HSD17B12, IDH1,IDI1,LOC653566,MOB4,MRPL49,PPP2R1B,RAB6A, MSMO1,SC5D,SPCS2,SQLE,TMEM126B,TMEM135,TMEM41B | C14orf1,FDPS,GRB14,HMGCS1,HSD17B7,IDI1,INSIG1, MKX,NSDHL,PAQR9,PART1,PLA2G3,PRND,RDH11, RHAG,MSMO1,SC5D,SQLE,STARD4,TMEM232,TMPRSS11F |
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 SC5D |
There's no related Drug. |
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Cross referenced IDs for SC5D |
* 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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