mutLBSgeneDB |
Gene summary for 101930400 |
Gene summary |
Basic gene Info. | Gene symbol | 101930400 |
Gene name | ||
Synonyms | ||
Cytomap | UCSC genome browser: | |
Type of gene | ||
RefGenes | ||
Description | ||
Modification date | ||
dbXrefs | ||
Protein | UniProt: P52895 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_101930400 | |
BioGPS: 101930400 | ||
Pathway | NCI Pathway Interaction Database: 101930400 | |
KEGG: 101930400 | ||
REACTOME: 101930400 | ||
Pathway Commons: 101930400 | ||
Context | iHOP: 101930400 | |
ligand binding site mutation search in PubMed: 101930400 | ||
UCL Cancer Institute: 101930400 | ||
Assigned class in mutLBSgeneDB |
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 101930400 |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples |
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 101930400 |
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 |
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 | H117 | P119S | -1.1225539 | L306 | R304Q | -0.96728319 | W86 | S87G | -0.95395708 | P17 | M16V | -0.92994972 |
(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 101930400 from PDB |
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Differential gene expression and gene-gene network for 101930400 |
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 101930400 |
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 101930400 |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Nutraceutical | DB00157 | NADH | Small molecule | |
Approved|investigational | DB01586 | Ursodeoxycholic acid | Small molecule | |
Experimental | DB03461 | 2'-Monophosphoadenosine 5'-Diphosphoribose | Small molecule | |
Experimental | DB07768 | (10ALPHA,13ALPHA,14BETA,17ALPHA)-17-HYDROXYANDROST-4-EN-3-ONE | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of 101930400 go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | NAP | NADP ZWITTERION | 1xjb | A | H117 | NDP | NADPH | 2hdj | B | H117 | FFA | TESTOSTERONE | 2ipj | B | H117 | NAP | NADP ZWITTERION | 4jq2 | B | H117 | NAP | NADP ZWITTERION | 4jq3 | B | H117 | NAP | NADP ZWITTERION | 4jq4 | A | H117 | NAP | NADP ZWITTERION | 4jq4 | B | H117 | NAP | NADP ZWITTERION | 4jqa | B | H117 | NAP | NADP ZWITTERION | 4jtq | A | H117 | NAP | NADP ZWITTERION | 4jtq | B | H117 | NAP | NADP ZWITTERION | 4jtr | A | H117 | NAP | NADP ZWITTERION | 4l1w | A | H117 | NAP | NADP ZWITTERION | 4l1w | B | H117 | NAP | NADP ZWITTERION | 4l1x | A | H117 | NAP | NADP ZWITTERION | 4l1x | B | H117 | NAP | NADP ZWITTERION | 1ihi | A | H117 L306 | NAP | NADP ZWITTERION | 1ihi | B | H117 L306 | NAP | NADP ZWITTERION | 1j96 | A | H117 L306 | NAP | NADP ZWITTERION | 1j96 | B | H117 L306 | NAP | NADP ZWITTERION | 1xjb | B | H117 L306 | NDP | NADPH | 2hdj | A | H117 L306 | NAP | NADP ZWITTERION | 2ipj | A | H117 L306 | NAP | NADP ZWITTERION | 2ipj | B | H117 L306 | NAP | NADP ZWITTERION | 4jq1 | A | H117 L306 | NAP | NADP ZWITTERION | 4jq1 | B | H117 L306 | NAP | NADP ZWITTERION | 4jq2 | A | H117 L306 | NAP | NADP ZWITTERION | 4jq3 | A | H117 L306 | IMN | INDOMETHACIN | 4jq4 | A | H117 L306 | IMN | INDOMETHACIN | 4jq4 | B | H117 L306 | NAP | NADP ZWITTERION | 4jqa | A | H117 L306 | NAP | NADP ZWITTERION | 4jtr | B | H117 L306 | TES | TESTOSTERONE | 1j96 | B | L306 | STR | PROGESTERONE | 4l1w | A | L306 | ACT | ACETATE | 1xjb | A | P17 | IU5 | ISOURSODEOXYCHOLIC ACID | 1ihi | A | W86 H117 | IU5 | ISOURSODEOXYCHOLIC ACID | 1ihi | B | W86 H117 | NPS | NAPROXEN | 4jq1 | B | W86 H117 | ZOM | ZOMEPIRAC | 4jq3 | A | W86 H117 | ZOM | ZOMEPIRAC | 4jq3 | B | W86 H117 | ID8 | MEFENAMIC ACID | 4jqa | A | W86 H117 | ID8 | MEFENAMIC ACID | 4jqa | B | W86 H117 | FLP | FLURBIPROFEN | 4jtq | B | W86 H117 | IBP | IBUPROFEN | 4jtr | A | W86 H117 | IZP | LEVIBUPROFEN | 4jtr | B | W86 H117 | FFA | TESTOSTERONE | 2ipj | A | W86 H117 L306 | NPS | NAPROXEN | 4jq1 | A | W86 H117 L306 | SUZ | SULINDAC | 4jq2 | A | W86 H117 L306 | FLP | FLURBIPROFEN | 4jtq | A | W86 H117 L306 | TES | TESTOSTERONE | 1j96 | A | W86 L306 | CIT | CITRIC ACID | 1xjb | A | W86 L306 |
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Conservation information for LBS of 101930400 |
Multiple alignments for P52895 in multiple species |
LBS | AA sequence | # species | Species | A218 | LVAYSALGSHR | 2 | Homo sapiens, Homo sapiens | A218 | LVAYGVLGTQR | 2 | Mus musculus, Rattus norvegicus | A253 | HKRTPALIALR | 2 | Homo sapiens, Homo sapiens | A253 | YNRTPALIALR | 1 | Mus musculus | A253 | YNQTPALIALR | 1 | Rattus norvegicus | A269 | GVVVLAKSYNE | 2 | Homo sapiens, Homo sapiens | A269 | GIVVLNTSLKE | 2 | Mus musculus, Rattus norvegicus | D50 | GFHHIDSAHVY | 1 | Homo sapiens | D50 | GFRHIDSAHLY | 1 | Homo sapiens | D50 | GFHHFDSASVY | 1 | Mus musculus | D50 | GFHHFDSAFVY | 1 | Rattus norvegicus | E127 | VKPGEEVIPKD | 2 | Homo sapiens, Homo sapiens | E127 | LKPGEENFPVD | 1 | Mus musculus | E127 | LKPGDENFPVD | 1 | Rattus norvegicus | E224 | LGSHREEPWVD | 2 | Homo sapiens, Homo sapiens | E224 | LGTQRYGGWVD | 1 | Mus musculus | E224 | LGTQRYNGWVD | 1 | Rattus norvegicus | F284 | QNVQVFEFQLT | 2 | Homo sapiens, Homo sapiens | F284 | ENMQVFEFQLS | 1 | Mus musculus | F284 | ENM-----KLS | 1 | Rattus norvegicus | G22 | PVLGFGTYAPA | 2 | Homo sapiens, Homo sapiens | G22 | PVLGFGTALPL | 1 | Mus musculus | G22 | PVLGFGTAMPS | 1 | Rattus norvegicus | G220 | AYSALGSHREE | 2 | Homo sapiens, Homo sapiens | G220 | AYGVLGTQRYG | 1 | Mus musculus | G220 | AYGVLGTQRYN | 1 | Rattus norvegicus | G45 | IAIDAGFHHFD | 2 | Mus musculus, Rattus norvegicus | G45 | LAIEAGFHHID | 1 | Homo sapiens | G45 | LAIEAGFRHID | 1 | Homo sapiens | H117 | DLYLIHFPVSV | 2 | Homo sapiens, Homo sapiens | H117 | DLYLIHYPMAL | 1 | Mus musculus | H117 | DLYLIHFPMAL | 1 | Rattus norvegicus | H222 | SALGSHREEPW | 2 | Homo sapiens, Homo sapiens | H222 | GVLGTQRYGGW | 1 | Mus musculus | H222 | GVLGTQRYNGW | 1 | Rattus norvegicus | H47 | IDAGFHHFDSA | 2 | Mus musculus, Rattus norvegicus | H47 | IEAGFHHIDSA | 1 | Homo sapiens | H47 | IEAGFRHIDSA | 1 | Homo sapiens | I129 | PGEEVIPKDEN | 2 | Homo sapiens, Homo sapiens | I129 | PGEENFPVDEH | 1 | Mus musculus | I129 | PGDENFPVDEH | 1 | Rattus norvegicus | K270 | VVVLAKSYNEQ | 2 | Homo sapiens, Homo sapiens | K270 | IVVLNTSLKEE | 2 | Mus musculus, Rattus norvegicus | K84 | IFYTSKLWSNS | 1 | Homo sapiens | K84 | IFYTSKLWCNS | 1 | Homo sapiens | K84 | IFYTSKVWCTS | 1 | Mus musculus | K84 | IFYTSKLWCTS | 1 | Rattus norvegicus | L19 | HFMPVLGFGTY | 2 | Homo sapiens, Homo sapiens | L19 | NFIPVLGFGTA | 1 | Mus musculus | L19 | HFIPVLGFGTA | 1 | Rattus norvegicus | L219 | VAYSALGSHRE | 2 | Homo sapiens, Homo sapiens | L219 | VAYGVLGTQRY | 2 | Mus musculus, Rattus norvegicus | L236 | NSPVLLEDPVL | 2 | Homo sapiens, Homo sapiens | L236 | NSPVLLDEPVL | 1 | Mus musculus | L236 | NSPVLLNEPVL | 1 | Rattus norvegicus | L268 | RGVVVLAKSYN | 2 | Homo sapiens, Homo sapiens | L268 | RGIVVLNTSLK | 2 | Mus musculus, Rattus norvegicus | L306 | RNVRYLTLDIF | 2 | Homo sapiens, Homo sapiens | L306 | RNMRYIPAAIF | 1 | Mus musculus | L306 | RNLRYIAGGIF | 1 | Rattus norvegicus | L308 | VRYLTLDIFAG | 2 | Homo sapiens, Homo sapiens | L308 | MRYIPAAIFKG | 1 | Mus musculus | L308 | LRYIAGGIFEG | 1 | Rattus norvegicus | N167 | SIGVSNFNRRQ | 2 | Homo sapiens, Rattus norvegicus | N167 | SIGVSNFNHRL | 1 | Homo sapiens | N167 | SIGVSNFNYRQ | 1 | Mus musculus | N273 | LAKSYNEQRIR | 2 | Homo sapiens, Homo sapiens | N273 | LNTSLKEERIK | 2 | Mus musculus, Rattus norvegicus | N280 | QRIRQNVQVFE | 2 | Homo sapiens, Homo sapiens | N280 | ERIKENMQVFE | 1 | Mus musculus | N280 | ERIKENM---- | 1 | Rattus norvegicus | P17 | DGHFMPVLGFG | 2 | Homo sapiens, Homo sapiens | P17 | DGNFIPVLGFG | 1 | Mus musculus | P17 | DGHFIPVLGFG | 1 | Rattus norvegicus | Q190 | KPVCNQVECHP | 3 | Homo sapiens, Homo sapiens, Mus musculus | Q190 | KPVCNQVECHL | 1 | Rattus norvegicus | Q279 | EQRIRQNVQVF | 2 | Homo sapiens, Homo sapiens | Q279 | EERIKENMQVF | 1 | Mus musculus | Q279 | EERIKENM--- | 1 | Rattus norvegicus | Q6 | MDSKYQCVKLN | 2 | Homo sapiens, Homo sapiens | Q6 | MNSKCHCVILN | 1 | Mus musculus | Q6 | MNSKCHCVKLN | 1 | Rattus norvegicus | R276 | SYNEQRIRQNV | 2 | Homo sapiens, Homo sapiens | R276 | SLKEERIKENM | 2 | Mus musculus, Rattus norvegicus | S166 | KSIGVSNFNRR | 2 | Homo sapiens, Rattus norvegicus | S166 | KSIGVSNFNHR | 1 | Homo sapiens | S166 | KSIGVSNFNYR | 1 | Mus musculus | S217 | VLVAYSALGSH | 2 | Homo sapiens, Homo sapiens | S217 | VLVAYGVLGTQ | 1 | Mus musculus | S217 | ILVAYGVLGTQ | 1 | Rattus norvegicus | S221 | YSALGSHREEP | 2 | Homo sapiens, Homo sapiens | S221 | YGVLGTQRYGG | 1 | Mus musculus | S221 | YGVLGTQRYNG | 1 | Rattus norvegicus | S271 | VVLAKSYNEQR | 2 | Homo sapiens, Homo sapiens | S271 | VVLNTSLKEER | 2 | Mus musculus, Rattus norvegicus | T23 | VLGFGTYAPAE | 2 | Homo sapiens, Homo sapiens | T23 | VLGFGTALPLE | 1 | Mus musculus | T23 | VLGFGTAMPSE | 1 | Rattus norvegicus | T307 | NVRYLTLDIFA | 2 | Homo sapiens, Homo sapiens | T307 | NMRYIPAAIFK | 1 | Mus musculus | T307 | NLRYIAGGIFE | 1 | Rattus norvegicus | V128 | KPGEEVIPKDE | 2 | Homo sapiens, Homo sapiens | V128 | KPGEENFPVDE | 1 | Mus musculus | V128 | KPGDENFPVDE | 1 | Rattus norvegicus | V18 | GHFMPVLGFGT | 2 | Homo sapiens, Homo sapiens | V18 | GNFIPVLGFGT | 1 | Mus musculus | V18 | GHFIPVLGFGT | 1 | Rattus norvegicus | V54 | IDSAHVYNNEE | 1 | Homo sapiens | V54 | IDSAHLYNNEE | 1 | Homo sapiens | V54 | FDSASVYNTED | 1 | Mus musculus | V54 | FDSAFVYNTED | 1 | Rattus norvegicus | W227 | HREEPWVDPNS | 2 | Homo sapiens, Homo sapiens | W227 | QRYGGWVDQNS | 1 | Mus musculus | W227 | QRYNGWVDQNS | 1 | Rattus norvegicus | W86 | YTSKLWSNSHR | 1 | Homo sapiens | W86 | YTSKLWCNSHR | 1 | Homo sapiens | W86 | YTSKVWCTSLH | 1 | Mus musculus | W86 | YTSKLWCTSLH | 1 | Rattus norvegicus | Y216 | IVLVAYSALGS | 2 | Homo sapiens, Homo sapiens | Y216 | IVLVAYGVLGT | 1 | Mus musculus | Y216 | IILVAYGVLGT | 1 | Rattus norvegicus | Y24 | LGFGTYAPAEV | 2 | Homo sapiens, Homo sapiens | Y24 | LGFGTALPLEC | 1 | Mus musculus | Y24 | LGFGTAMPSEL | 1 | Rattus norvegicus | Y272 | VLAKSYNEQRI | 2 | Homo sapiens, Homo sapiens | Y272 | VLNTSLKEERI | 2 | Mus musculus, Rattus norvegicus | Y5 | 4 | Homo sapiens, Homo sapiens, Mus musculus, Rattus norvegicus | Y55 | DSAHVYNNEEQ | 1 | Homo sapiens | Y55 | DSAHLYNNEEQ | 1 | Homo sapiens | Y55 | DSASVYNTEDH | 1 | Mus musculus | Y55 | DSAFVYNTEDH | 1 | Rattus norvegicus |
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