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mutLBSgeneDB |
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| Gene summary for STAMBP |
 Gene summary |
| Basic gene Info. | Gene symbol | STAMBP |
| Gene name | STAM binding protein | |
| Synonyms | AMSH|MICCAP | |
| Cytomap | UCSC genome browser: 2p13.1 | |
| Type of gene | protein-coding | |
| RefGenes | NM_006463.4, NM_201647.2,NM_213622.2, | |
| Description | STAM-binding proteinassociated molecule with the SH3 domain of STAMendosome-associated ubiquitin isopeptidase | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 606247 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000124356 | ||
| HPRD : 05877 | ||
| Vega : OTTHUMG00000129817 | ||
| Protein | UniProt: O95630 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_STAMBP | |
| BioGPS: 10617 | ||
| Pathway | NCI Pathway Interaction Database: STAMBP | |
| KEGG: STAMBP | ||
| REACTOME: STAMBP | ||
| Pathway Commons: STAMBP | ||
| Context | iHOP: STAMBP | |
| ligand binding site mutation search in PubMed: STAMBP | ||
| UCL Cancer Institute: STAMBP | ||
| 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 STAMBP |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | C390 | C390R | KIRC | 1 | E72 | E72K | LUAD | 1 | S23 | A24V | STAD | 1 | K107 | E109D | UCEC | 1 | T68 | T68M | 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 STAMBP |
| 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 | S23 | A24V | 0.054839224 | E72 | E72K | -1.1378836 | T68 | T68M | -1.1345111 | K107 | E109D | -0.91342189 | C390 | C390R | -0.41282286 |
| (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 STAMBP from PDB |
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| Differential gene expression and gene-gene network for STAMBP |
| 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 STAMBP |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C3280296 | Microcephaly-capillary malformation syndrome | 1 | Biomarker, GeneticVariation |
| umls:C0006111 | Brain Diseases | 1 | Biomarker |
| umls:C1842180 | Capillary Malformation-Arteriovenous Malformation | 1 | Biomarker |
| umls:C0008073 | Developmental Disabilities | 1 | Biomarker |
| umls:C0014544 | Epilepsy | 1 | Biomarker |
| umls:C0025958 | Microcephaly | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for STAMBP |
| 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 STAMBP go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ZN | ZINC(2+) | 3rzu | A | C390 | ZN | ZINC(2+) | 3rzu | B | C390 | ZN | ZINC(2+) | 3rzu | C | C390 | ZN | ZINC(2+) | 3rzu | D | C390 | ZN | ZINC(2+) | 3rzu | E | C390 | ZN | ZINC(2+) | 3rzu | F | C390 | ZN | ZINC(2+) | 3rzu | G | C390 | ZN | ZINC(2+) | 3rzv | A | C390 | III | Peptide ligand (SER,GLU,ASP,GLU,GLU,GLU,GLU,GLU,GLU,ALA,LEU,GLU,ALA,MET,GLN,SER,ARG,LEU,ALA,THR,LEU,ARG,SER) | 2xze | A | S23 T68 E72 K107 | III | Peptide ligand (GLU,GLU,GLU,GLU,GLU,GLU,ALA,LEU,GLU,ALA,MET,GLN,SER,ARG,LEU,ALA,THR,LEU,ARG,SER) | 2xze | B | S23 T68 E72 K107 |
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| Conservation information for LBS of STAMBP |
| Multiple alignments for O95630 in multiple species |
| LBS | AA sequence | # species | Species | A103 | VAFPKAEELKT | 2 | Mus musculus, Rattus norvegicus | A103 | IAFPKAEELKA | 1 | Homo sapiens | A103 | IAFPKAEELKK | 1 | Danio rerio | C390 | QEISTCRQKGF | 2 | Mus musculus, Rattus norvegicus | C390 | EEISSCRQKGF | 1 | Homo sapiens | C390 | DDVGTCKQRGF | 1 | Danio rerio | D309 | QNGGPDYCHTE | 2 | Mus musculus, Rattus norvegicus | D309 | QSAGSDYCNTE | 1 | Homo sapiens | D309 | QCGGPDYCDTE | 1 | Danio rerio | D348 | FLSSVDLHTHC | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | E104 | AFPKAEELKTE | 2 | Mus musculus, Rattus norvegicus | E104 | AFPKAEELKAE | 1 | Homo sapiens | E104 | AFPKAEELKKL | 1 | Danio rerio | E72 | ITLFIEKLPKH | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | F100 | LKEIAFPKAEE | 2 | Homo sapiens, Danio rerio | F100 | LKSVAFPKAEE | 1 | Mus musculus | F100 | LKNVAFPKAEE | 1 | Rattus norvegicus | H335 | TLGWIHTHPTQ | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | H337 | GWIHTHPTQTA | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | H350 | SSVDLHTHCSY | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | H396 | RQKGFHPHGRD | 2 | Mus musculus, Rattus norvegicus | H396 | RQKGFHPHSKD | 1 | Homo sapiens | H396 | KQRGFHPHPKD | 1 | Danio rerio | H398 | KGFHPHGRDPP | 2 | Mus musculus, Rattus norvegicus | H398 | KGFHPHSKDPP | 1 | Homo sapiens | H398 | RGFHPHPKDPP | 1 | Danio rerio | I67 | LYNKYITLFIE | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | I71 | YITLFIEKLPK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | K107 | KAEELKAELLK | 1 | Homo sapiens | K107 | KAEELKKLLLK | 1 | Danio rerio | K107 | KAEELKTELLR | 1 | Mus musculus | K107 | KAEELKTELLK | 1 | Rattus norvegicus | K88 | AIIPEKKDAVK | 2 | Mus musculus, Rattus norvegicus | K88 | AVIPEKKDTVK | 1 | Homo sapiens | K88 | ANIPEKKETMR | 1 | Danio rerio | K89 | IIPEKKDAVKK | 2 | Mus musculus, Rattus norvegicus | K89 | VIPEKKDTVKK | 1 | Homo sapiens | K89 | NIPEKKETMRK | 1 | Danio rerio | L95 | DTVKKLKEIAF | 1 | Homo sapiens | L95 | ETMRKLKEIAF | 1 | Danio rerio | L95 | DAVKKLKSVAF | 1 | Mus musculus | L95 | DAVKKLKNVAF | 1 | Rattus norvegicus | N64 | AFILYNKYITL | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | R16 | PQDRVRILSQL | 2 | Mus musculus, Rattus norvegicus | R16 | PEDRVRALSQL | 1 | Homo sapiens | R16 | SEDRVRALTKL | 1 | Danio rerio | S23 | LSQLGSAVELN | 2 | Mus musculus, Rattus norvegicus | S23 | LSQLGSAVEVN | 1 | Homo sapiens | S23 | LTKLGSSVDVS | 1 | Danio rerio | T68 | YNKYITLFIEK | 4 | Homo sapiens, Danio rerio, Mus musculus, Rattus norvegicus | V92 | EKKDTVKKLKE | 1 | Homo sapiens | V92 | EKKETMRKLKE | 1 | Danio rerio | V92 | EKKDAVKKLKS | 1 | Mus musculus | V92 | EKKDAVKKLKN | 1 | Rattus norvegicus | Y80 | PKHRDYKSAII | 2 | Mus musculus, Rattus norvegicus | Y80 | PKHRDYKSAVI | 1 | Homo sapiens | Y80 | PKHREYKTANI | 1 | Danio rerio |
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