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mutLBSgeneDB |
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| Gene summary for 100996542 |
 Gene summary |
| Basic gene Info. | Gene symbol | 100996542 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: Q14831 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_100996542 | |
| BioGPS: 100996542 | ||
| Pathway | NCI Pathway Interaction Database: 100996542 | |
| KEGG: 100996542 | ||
| REACTOME: 100996542 | ||
| Pathway Commons: 100996542 | ||
| Context | iHOP: 100996542 | |
| ligand binding site mutation search in PubMed: 100996542 | ||
| UCL Cancer Institute: 100996542 | ||
| 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 100996542 |
| 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 100996542 |
| 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 | T182 | T182M | 0.27554484 | H77 | H77Y | 0.11429586 | V151 | V153A | -1.3998358 | N470 | N468S | -1.2311407 | L355 | T354A | -1.1702382 | R359 | R360I | -1.1542857 | Y367 | E366K | -1.1264712 | L355 | E356A | -1.088957 | F195 | R197H | -1.0277077 | L355 | E356K | -1.0182278 | Y230 | S229T | -0.98967138 | D92 | P93S | -0.96392524 | G217 | G217S | -0.93096682 | N371 | F372V | -0.9198322 | K407 | Q409K | -0.90587712 | D92 | P93H | -0.89454049 | L186 | E185K | -0.8136391 | F195 | R197C | -0.75753916 | G444 | G444A | -0.6955108 | T182 | A183T | -0.49520468 | Y230 | G228E | -0.45780707 | F195 | F194L | -0.44804439 | G444 | A443V | -0.26558794 | D92 | D92Y | -0.2409741 | P175 | Q176L | -0.15435714 |
| (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 100996542 from PDB |
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| Differential gene expression and gene-gene network for 100996542 |
| 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 100996542 |
| 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 100996542 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Nutraceutical | DB00142 | L-Glutamic Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 100996542 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | MG | MAGNESIUM(2+) | 3mq4 | A | D92 | CA | CALCIUM(2+) | 5c5c | A | D92 | UNX | UNKNOWN ATOM OR LIGAND | 5c5c | A | G217 | UNX | UNKNOWN ATOM OR LIGAND | 5c5c | A | H77 Y367 N371 | CA | CALCIUM(2+) | 5c5c | A | L186 F195 N470 | UNX | UNKNOWN ATOM OR LIGAND | 5c5c | A | L355 R359 | UNX | UNKNOWN ATOM OR LIGAND | 5c5c | A | T182 | Z99 | (1S,2S)-2-[(2S)-2-AMINO-1-HYDROXY-1-OXO-3-(9H-XANTHEN-9-YL)PROPAN-2-YL]CYCLOPROPANE-1-CARBOXYLIC ACID | 3mq4 | A | T182 Y230 K407 | UNX | UNKNOWN ATOM OR LIGAND | 5c5c | A | V151 P175 G444 |
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| Conservation information for LBS of 100996542 |
| Multiple alignments for Q14831 in multiple species |
| LBS | AA sequence | # species | Species | A156 | VGVIGASGSSV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | A180 | PQISYASTAPE | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D189 | PELSDDRRYDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | D92 | DQINSDPNLLP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F195 | RRYDFFSRVVP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G158 | VIGASGSSVSI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G217 | IVKALGWNYVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G444 | EMEQAGGKKLL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G445 | MEQAGGKKLLK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | H77 | RENGIHRLEAM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | I89 | YALDQINSDPN | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K407 | YEQEGKVQFVI | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L186 | STAPELSDDRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L216 | DIVKALGWNYV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L355 | FTSRTLENNRR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L448 | AGGKKLLKYIR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L95 | NSDPNLLPNVT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L96 | SDPNLLPNVTL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N358 | RTLENNRRNVW | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N371 | EYWEENFNCKL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N470 | VMFNKNGDAPG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N90 | ALDQINSDPNL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P175 | RLFQIPQISYA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | P56 | LGGLFPVHAKG | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R281 | DTPNSRAVVIF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R359 | TLENNRRNVWF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R453 | LLKYIRNVNFN | 2 | Homo sapiens, Mus musculus | R453 | LLKYIRHVNFN | 1 | Rattus norvegicus | R72 | CGDIKRENGIH | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R78 | ENGIHRLEAML | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S157 | GVIGASGSSVS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S159 | IGASGSSVSIM | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S181 | QISYASTAPEL | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | S187 | TAPELSDDRRY | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T108 | ARILDTCSRDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T182 | ISYASTAPELS | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V151 | KPEKVVGVIGA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | V161 | ASGSSVSIMVA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y192 | SDDRRYDFFSR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y230 | ASEGSYGEKGV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | Y367 | VWFAEYWEENF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus |
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