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mutLBSgeneDB |
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| Gene summary for 101929036 |
 Gene summary |
| Basic gene Info. | Gene symbol | 101929036 |
| Gene name | ||
| Synonyms | ||
| Cytomap | UCSC genome browser: | |
| Type of gene | ||
| RefGenes | ||
| Description | ||
| Modification date | ||
| dbXrefs | ||
| Protein | UniProt: P00439 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_101929036 | |
| BioGPS: 101929036 | ||
| Pathway | NCI Pathway Interaction Database: 101929036 | |
| KEGG: 101929036 | ||
| REACTOME: 101929036 | ||
| Pathway Commons: 101929036 | ||
| Context | iHOP: 101929036 | |
| ligand binding site mutation search in PubMed: 101929036 | ||
| UCL Cancer Institute: 101929036 | ||
| 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 101929036 |
| 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 101929036 |
| 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 | E330 | V329L | 0.12446426 | A322 | T323K | -1.2523615 | E280 | E280K | -1.2071619 | A322 | A322D | -1.0361385 | H290 | G289R | -0.88010982 | H290 | H290Y | -0.63449628 | G247 | G247S | -0.60806823 | S251 | S251P | -0.56206614 | R270 | G272R | -0.40770711 | E286 | E286K | -0.24268502 |
| (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 101929036 from PDB |
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| Differential gene expression and gene-gene network for 101929036 |
| 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 101929036 |
| 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 101929036 |
| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00120 | L-Phenylalanine | Small molecule |  |
| Approved|investigational | DB00360 | Sapropterin | Small molecule |  |
| Approved | DB00368 | Norepinephrine | Small molecule |  |
| Approved|vet_approved | DB00668 | Epinephrine | Small molecule |  |
| Experimental | DB02562 | Quinonoid 7,8-Tetrahydrobiopterin | Small molecule |  |
| Experimental | DB02692 | (6r,1'r,2's)-5,6,7,8 Tetrahydrobiopterin | Small molecule |  |
| Experimental | DB03673 | Beta(2-Thienyl)Alanine | Small molecule |  |
| Experimental | DB04400 | 7,8-Dihydrobiopterin | Small molecule |  |
| Experimental | DB04419 | Norleucine | Small molecule |  |
| Approved|investigational | DB06262 | Droxidopa | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of 101929036 go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FE | IRON(3+) | 2pah | A | E286 H290 E330 | FE | IRON(3+) | 2pah | B | E286 H290 E330 | HBI | 7,8-DIHYDROBIOPTERIN | 1lrm | A | G247 S251 | HBI | 7,8-DIHYDROBIOPTERIN | 1dmw | A | G247 S251 A322 | H4B | 5,6,7,8-TETRAHYDROBIOPTERIN | 1j8u | A | G247 S251 A322 | H2B | QUINONOID 7,8-TETRAHYDROBIOPTERIN | 1tg2 | A | G247 S251 A322 | H4B | 5,6,7,8-TETRAHYDROBIOPTERIN | 1kw0 | A | G247 S251 E286 E330 | H4B | 5,6,7,8-TETRAHYDROBIOPTERIN | 1mmt | A | G247 S251 E286 E330 | H4B | 5,6,7,8-TETRAHYDROBIOPTERIN | 1mmk | A | G247 S251 E286 H290 E330 | FE | IRON(3+) | 1dmw | A | H290 E330 | FE2 | IRON(2+) | 1j8t | A | H290 E330 | FE2 | IRON(2+) | 1j8u | A | H290 E330 | FE2 | IRON(2+) | 1kw0 | A | H290 E330 | FE | IRON(3+) | 1lrm | A | H290 E330 | FE2 | IRON(2+) | 1mmk | A | H290 E330 | FE2 | IRON(2+) | 1mmt | A | H290 E330 | FE | IRON(3+) | 1pah | A | H290 E330 | FE | IRON(3+) | 1tdw | A | H290 E330 | FE | IRON(3+) | 1tg2 | A | H290 E330 | FE | IRON(3+) | 3pah | A | H290 E330 | ALE | ADRENALINE | 3pah | A | H290 E330 | FE | IRON(3+) | 4anp | A | H290 E330 | FE | IRON(3+) | 4pah | A | H290 E330 | LNR | (R)-NORADRENALINE | 4pah | A | H290 E330 | FE | IRON(3+) | 5pah | A | H290 E330 | LDP | DOPAMINIUM(1+) | 5pah | A | H290 E330 | FE | IRON(3+) | 6pah | A | H290 E330 | DAH | L-DOPA | 6pah | A | H290 E330 | NLE | L-NORLEUCINE | 1mmt | A | R270 | TIH | 3-(2-THIENYL)-L-ALANINE | 1kw0 | A | R270 E280 E330 | TIH | 3-(2-THIENYL)-L-ALANINE | 1mmk | A | R270 E280 E330 | 3QI | 5,6-DIMETHYL-3-(4-METHYL-2-PYRIDINYL)-2-THIOXO-2,3-DIHYDROTHIENO[2,3- D]PYRIMIDIN-4(1H)-ONE | 4anp | A | S251 E330 |
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| Conservation information for LBS of 101929036 |
| Multiple alignments for P00439 in multiple species |
| LBS | AA sequence | # species | Species | A322 | YIEKLATIYWF | 3 | Homo sapiens, Mus musculus, Bos taurus | A322 | VIEKLATLYWF | 1 | Caenorhabditis elegans | A322 | YIEKLSTIFWF | 1 | Drosophila melanogaster | E280 | PMYTPEPDICH | 3 | Homo sapiens, Mus musculus, Bos taurus | E280 | PKYTPEPDICH | 1 | Caenorhabditis elegans | E280 | PMYTPEPDVCH | 1 | Drosophila melanogaster | E286 | PDICHELLGHV | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus | E286 | PDVCHELMGHV | 1 | Drosophila melanogaster | E330 | YWFTVEFGLCK | 3 | Homo sapiens, Mus musculus, Bos taurus | E330 | YWFTIEFGICQ | 1 | Caenorhabditis elegans | E330 | FWFTVEYGVCR | 1 | Drosophila melanogaster | F254 | LSSRDFLGGLA | 3 | Homo sapiens, Mus musculus, Bos taurus | F254 | LSSRDFLAGLA | 2 | Caenorhabditis elegans, Drosophila melanogaster | F331 | WFTVEFGLCKQ | 2 | Homo sapiens, Bos taurus | F331 | WFTIEFGICQQ | 1 | Caenorhabditis elegans | F331 | WFTVEYGVCRQ | 1 | Drosophila melanogaster | F331 | WFTVEFGLCKE | 1 | Mus musculus | G247 | LRPVAGLLSSR | 4 | Homo sapiens, Drosophila melanogaster, Mus musculus, Bos taurus | G247 | IRPVAGLLSSR | 1 | Caenorhabditis elegans | H264 | AFRVFHCTQYI | 3 | Homo sapiens, Mus musculus, Bos taurus | H264 | AFRVFHSTQYI | 2 | Caenorhabditis elegans, Drosophila melanogaster | H285 | EPDICHELLGH | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus | H285 | EPDVCHELMGH | 1 | Drosophila melanogaster | H290 | HELLGHVPLFS | 3 | Homo sapiens, Mus musculus, Bos taurus | H290 | HELLGHVPLFA | 1 | Caenorhabditis elegans | H290 | HELMGHVPLFA | 1 | Drosophila melanogaster | L248 | RPVAGLLSSRD | 5 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus, Bos taurus | L249 | PVAGLLSSRDF | 5 | Homo sapiens, Caenorhabditis elegans, Drosophila melanogaster, Mus musculus, Bos taurus | L255 | SSRDFLGGLAF | 3 | Homo sapiens, Mus musculus, Bos taurus | L255 | SSRDFLAGLAF | 2 | Caenorhabditis elegans, Drosophila melanogaster | P279 | KPMYTPEPDIC | 3 | Homo sapiens, Mus musculus, Bos taurus | P279 | APKYTPEPDIC | 1 | Caenorhabditis elegans | P279 | KPMYTPEPDVC | 1 | Drosophila melanogaster | P281 | MYTPEPDICHE | 3 | Homo sapiens, Mus musculus, Bos taurus | P281 | KYTPEPDICHE | 1 | Caenorhabditis elegans | P281 | MYTPEPDVCHE | 1 | Drosophila melanogaster | R270 | CTQYIRHGSKP | 3 | Homo sapiens, Mus musculus, Bos taurus | R270 | STQYIRHHSAP | 1 | Caenorhabditis elegans | R270 | STQYIRHPSKP | 1 | Drosophila melanogaster | S251 | AGLLSSRDFLG | 3 | Homo sapiens, Mus musculus, Bos taurus | S251 | AGLLSSRDFLA | 2 | Caenorhabditis elegans, Drosophila melanogaster | S349 | GAGLLSSFGEL | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus | S349 | GAGLLSSYGEL | 1 | Drosophila melanogaster | S350 | AGLLSSFGELQ | 4 | Homo sapiens, Caenorhabditis elegans, Mus musculus, Bos taurus | S350 | AGLLSSYGELE | 1 | Drosophila melanogaster | T278 | SKPMYTPEPDI | 3 | Homo sapiens, Mus musculus, Bos taurus | T278 | SAPKYTPEPDI | 1 | Caenorhabditis elegans | T278 | SKPMYTPEPDV | 1 | Drosophila melanogaster | V245 | FRLRPVAGLLS | 3 | Homo sapiens, Mus musculus, Bos taurus | V245 | YTIRPVAGLLS | 1 | Caenorhabditis elegans | V245 | FTLRPVAGLLS | 1 | Drosophila melanogaster | W326 | LATIYWFTVEF | 3 | Homo sapiens, Mus musculus, Bos taurus | W326 | LATLYWFTIEF | 1 | Caenorhabditis elegans | W326 | LSTIFWFTVEY | 1 | Drosophila melanogaster | Y277 | GSKPMYTPEPD | 3 | Homo sapiens, Mus musculus, Bos taurus | Y277 | HSAPKYTPEPD | 1 | Caenorhabditis elegans | Y277 | PSKPMYTPEPD | 1 | Drosophila melanogaster | Y325 | KLATIYWFTVE | 3 | Homo sapiens, Mus musculus, Bos taurus | Y325 | KLATLYWFTIE | 1 | Caenorhabditis elegans | Y325 | KLSTIFWFTVE | 1 | Drosophila melanogaster |
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