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mutLBSgeneDB |
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| Gene summary for SDSL |
 Gene summary |
| Basic gene Info. | Gene symbol | SDSL |
| Gene name | serine dehydratase-like | |
| Synonyms | SDH 2|SDS-RS1|TDH|cSDH | |
| Cytomap | UCSC genome browser: 12q24.13 | |
| Type of gene | protein-coding | |
| RefGenes | NM_138432.2, | |
| Description | L-serine deaminaseL-serine dehydratase/L-threonine deaminaseL-threonine dehydrataseSDHserine dehydratase 2serine dehydratase related sequence 1 | |
| Modification date | 20141207 | |
| dbXrefs | HGNC : HGNC | |
| Ensembl : ENSG00000139410 | ||
| HPRD : 11542 | ||
| Vega : OTTHUMG00000169551 | ||
| Protein | UniProt: Q96GA7 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_SDSL | |
| BioGPS: 113675 | ||
| Pathway | NCI Pathway Interaction Database: SDSL | |
| KEGG: SDSL | ||
| REACTOME: SDSL | ||
| Pathway Commons: SDSL | ||
| Context | iHOP: SDSL | |
| ligand binding site mutation search in PubMed: SDSL | ||
| UCL Cancer Institute: SDSL | ||
| 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 SDSL |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G176 | G176R | SKCM | 1 | N74 | A75T | 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 SDSL |
| 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 | G176 | G176R | 0.66476443 | N74 | A75T | 0.26032197 |
| (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 SDSL from PDB |
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| Differential gene expression and gene-gene network for SDSL |
| 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 SDSL |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for SDSL |
| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00114 | Pyridoxal Phosphate | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of SDSL go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | PLP | PYRIDOXAL 5'-PHOSPHATE | 2rkb | A | N74 G176 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2rkb | B | N74 G176 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2rkb | C | N74 G176 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2rkb | D | N74 G176 | PLP | PYRIDOXAL 5'-PHOSPHATE | 2rkb | E | N74 G176 |
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| Conservation information for LBS of SDSL |
| Multiple alignments for Q96GA7 in multiple species |
| LBS | AA sequence | # species | Species | C309 | VVVIVCGGNNI | 2 | Homo sapiens, Mus musculus | C309 | VIIIACGGSSN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F142 | ----PFDHPLI | 2 | Homo sapiens, Mus musculus | F142 | IYVHPFDNPDI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F47 | QPSGSFKIRGI | 1 | Homo sapiens | F47 | QPSGSFKSRGI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | F47 | QIAGSFKIRGI | 1 | Mus musculus | G174 | LVLAVGGGGLL | 1 | Homo sapiens | G174 | IVCSVGGGGLY | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G174 | VVLAVGGGGLL | 1 | Mus musculus | G175 | VLAVGGGGLLA | 2 | Homo sapiens, Mus musculus | G175 | VCSVGGGGLYN | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G176 | LAVGGGGLLAG | 2 | Homo sapiens, Mus musculus | G176 | CSVGGGGLYNG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | G177 | AVGGGGLLAGV | 2 | Homo sapiens, Mus musculus | G177 | SVGGGGLYNGI | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K48 | PSGSFKIRGIG | 1 | Homo sapiens | K48 | PSGSFKSRGIG | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | K48 | IAGSFKIRGIG | 1 | Mus musculus | L178 | VGGGGLLAGVV | 1 | Homo sapiens | L178 | VGGGGLYNGII | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | L178 | VGGGGLLAGVT | 1 | Mus musculus | N74 | CSSGGNAGIAA | 2 | Homo sapiens, Mus musculus | N74 | ASSGGNAGFAA | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) | S228 | TSVAKSLGAKT | 2 | Homo sapiens, Mus musculus | S228 | TSIATSLGTAV | 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) |
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