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mutLBSgeneDB |
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| Gene summary for SCD |
 Gene summary |
| Basic gene Info. | Gene symbol | SCD |
| Gene name | stearoyl-CoA desaturase (delta-9-desaturase) | |
| Synonyms | FADS5|MSTP008|SCD1|SCDOS | |
| Cytomap | UCSC genome browser: 10q24.31 | |
| Type of gene | protein-coding | |
| RefGenes | NM_005063.4, | |
| Description | acyl-CoA desaturasedelta(9)-desaturasedelta-9 desaturasedelta-9-desaturasefatty acid desaturasepredicted protein of HQ0998stearoyl-CoA desaturase opposite strand | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 604031 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000099194 | ||
| HPRD : 04941 | ||
| Vega : OTTHUMG00000018906 | ||
| Protein | UniProt: O00767 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SCD | |
| BioGPS: 6319 | ||
| Pathway | NCI Pathway Interaction Database: SCD | |
| KEGG: SCD | ||
| REACTOME: SCD | ||
| Pathway Commons: SCD | ||
| Context | iHOP: SCD | |
| ligand binding site mutation search in PubMed: SCD | ||
| UCL Cancer Institute: SCD | ||
| Assigned class in mutLBSgeneDB | C: This gene just belongs to mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for SCD |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | A292 | A292V | COAD | 1 | E295 | E295G | COAD | 1 | H171 | H171N | HNSC | 1 | H302 | S303Y | LUAD | 1 | W184 | V182M | UCEC | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, 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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| Protein structure related information for SCD |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | H171 | H171N | -0.88649373 | A292 | A292V | -0.78491437 | E295 | E295G | -0.53044528 | H302 | S303Y | -0.36361944 | W184 | V182M | -0.36041247 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for SCD from PDB |
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| Differential gene expression and gene-gene network for SCD |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for SCD |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 3 | Biomarker |
| umls:C0007097 | Carcinoma | 3 | Biomarker |
| umls:C0024667 | Mammary Neoplasms, Animal | 2 | Biomarker |
| umls:C0024668 | Mammary Neoplasms, Experimental | 2 | Biomarker |
| umls:C0339143 | Graves Ophthalmopathy | 1 | Biomarker |
| umls:C0023794 | Lipidoses | 1 | Biomarker |
| umls:C0023903 | Liver Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SCD |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SCD go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ST9 | STEAROYL-COA | 4zyo | A | H171 W184 A292 E295 | ZN | ZINC(2+) | 4zyo | A | H302 |
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| Conservation information for LBS of SCD |
| Multiple alignments for O00767 in multiple species |
| LBS | AA sequence | # species | Species | A112 | YYFVSALGITA | 1 | Homo sapiens | A112 | YYMTSALGITA | 1 | Mus musculus | A112 | YYLISALGITA | 1 | Rattus norvegicus | A112 | YYLMGALGITA | 1 | Bos taurus | A292 | LVSLGAVGEGF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A292 | LVSLGAAGEGF | 1 | Bos taurus | D156 | YEWARDHRAHH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D156 | FEWSRDHRAHH | 1 | Bos taurus | E295 | LGAVGEGFHNY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | E295 | LGAAGEGFHNY | 1 | Bos taurus | F146 | ANTMAFQNDVY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F146 | GNTMAFQNDVF | 1 | Bos taurus | G197 | AVKEKGGKLDM | 2 | Mus musculus, Rattus norvegicus | G197 | AVKEKGSTLDL | 1 | Homo sapiens | G197 | AVKEKGSTLNL | 1 | Bos taurus | H120 | ITAGAHRLWSH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H125 | HRLWSHRTYKA | 3 | Mus musculus, Rattus norvegicus, Bos taurus | H125 | HRLWSHRSYKA | 1 | Homo sapiens | H157 | EWARDHRAHHK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H157 | EWSRDHRAHHK | 1 | Bos taurus | H160 | RDHRAHHKFSE | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H161 | DHRAHHKFSET | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | H171 | THADPHNSRRG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H171 | TDADPHNSRRG | 1 | Bos taurus | H269 | VNSAAHLYGYR | 2 | Mus musculus, Rattus norvegicus | H269 | VNSAAHLFGYR | 1 | Homo sapiens | H269 | VNSAAHMYGYR | 1 | Bos taurus | H298 | VGEGFHNYHHS | 1 | Homo sapiens | H298 | VGEGFHNYHHT | 1 | Mus musculus | H298 | VGEGFHNYHHA | 1 | Rattus norvegicus | H298 | AGEGFHNYHHT | 1 | Bos taurus | H301 | GFHNYHHSFPY | 1 | Homo sapiens | H301 | GFHNYHHTFPF | 1 | Mus musculus | H301 | GFHNYHHAFPY | 1 | Rattus norvegicus | H301 | GFHNYHHTFPY | 1 | Bos taurus | H302 | FHNYHHSFPYD | 1 | Homo sapiens | H302 | FHNYHHTFPFD | 1 | Mus musculus | H302 | FHNYHHAFPYD | 1 | Rattus norvegicus | H302 | FHNYHHTFPYD | 1 | Bos taurus | I115 | VSALGITAGAH | 1 | Homo sapiens | I115 | TSALGITAGAH | 1 | Mus musculus | I115 | ISALGITAGAH | 1 | Rattus norvegicus | I115 | MGALGITAGAH | 1 | Bos taurus | K189 | WLLVRKHPAVK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | K194 | KHPAVKEKGST | 2 | Homo sapiens, Bos taurus | K194 | KHPAVKEKGGK | 2 | Mus musculus, Rattus norvegicus | L185 | SHVGWLLVRKH | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | L258 | RYTLVLNATWL | 2 | Mus musculus, Rattus norvegicus | L258 | RYAVVLNATWL | 1 | Homo sapiens | L258 | RYALGLNVTWL | 1 | Bos taurus | N148 | TMAFQNDVYEW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N148 | TMAFQNDVFEW | 1 | Bos taurus | N265 | ATWLVNSAAHL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N265 | VTWLVNSAAHM | 1 | Bos taurus | N75 | EYVWRNIILMS | 2 | Homo sapiens, Bos taurus | N75 | EYVWRNIILMV | 1 | Mus musculus | N75 | EYVWRNIILMA | 1 | Rattus norvegicus | Q147 | NTMAFQNDVYE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Q147 | NTMAFQNDVFE | 1 | Bos taurus | R155 | VYEWARDHRAH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R155 | VFEWSRDHRAH | 1 | Bos taurus | R188 | GWLLVRKHPAV | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | T116 | SALGITAGAHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T116 | GALGITAGAHR | 1 | Bos taurus | T261 | LVLNATWLVNS | 2 | Mus musculus, Rattus norvegicus | T261 | VVLNATWLVNS | 1 | Homo sapiens | T261 | LGLNVTWLVNS | 1 | Bos taurus | V187 | VGWLLVRKHPA | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | V193 | RKHPAVKEKGS | 2 | Homo sapiens, Bos taurus | V193 | RKHPAVKEKGG | 2 | Mus musculus, Rattus norvegicus | V264 | NATWLVNSAAH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V264 | NVTWLVNSAAH | 1 | Bos taurus | V293 | VSLGAVGEGFH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V293 | VSLGAAGEGFH | 1 | Bos taurus | V72 | PKLEYVWRNII | 3 | Mus musculus, Rattus norvegicus, Bos taurus | V72 | PKVEYVWRNII | 1 | Homo sapiens | W153 | NDVYEWARDHR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W153 | NDVFEWSRDHR | 1 | Bos taurus | W184 | FSHVGWLLVRK | 4 | Homo sapiens, Mus musculus, Rattus norvegicus, Bos taurus | W262 | VLNATWLVNSA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | W262 | GLNVTWLVNSA | 1 | Bos taurus | Y254 | STFLRYTLVLN | 2 | Mus musculus, Rattus norvegicus | Y254 | ATFLRYAVVLN | 1 | Homo sapiens | Y254 | ATLFRYALGLN | 1 | Bos taurus |
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