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mutLBSgeneDB |
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| Gene summary for HGS |
 Gene summary |
| Basic gene Info. | Gene symbol | HGS |
| Gene name | hepatocyte growth factor-regulated tyrosine kinase substrate | |
| Synonyms | HRS | |
| Cytomap | UCSC genome browser: 17q25 | |
| Type of gene | protein-coding | |
| RefGenes | NM_004712.4, | |
| Description | human growth factor-regulated tyrosine kinase substrateprotein pp110 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604375 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000185359 | ||
| HPRD : 05085 | ||
| Vega : OTTHUMG00000178109 | ||
| Protein | UniProt: O14964 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HGS | |
| BioGPS: 9146 | ||
| Pathway | NCI Pathway Interaction Database: HGS | |
| KEGG: HGS | ||
| REACTOME: HGS | ||
| Pathway Commons: HGS | ||
| Context | iHOP: HGS | |
| ligand binding site mutation search in PubMed: HGS | ||
| UCL Cancer Institute: HGS | ||
| 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 | GO:0046426 | negative regulation of JAK-STAT cascade | 12444102 |
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| Ligand binding site mutations for HGS |
| 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 | H181 | H181R | SKCM | 1 | R183 | C185Y | 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 HGS |
| 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 | R183 | C185Y | -1.1550679 | H181 | H181R | -0.019192441 |
| (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 HGS from PDB |
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| Differential gene expression and gene-gene network for HGS |
| 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 HGS |
| 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 HGS |
| 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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| 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|vet_approved | DB04272 | Citric Acid | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of HGS go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | ITP | MYO-INOSITOL 1,3-BISPHOSPHATE | 4avx | A | H181 R183 |
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| Conservation information for LBS of HGS |
| Multiple alignments for O14964 in multiple species |
| LBS | AA sequence | # species | Species | C166 | VDAEECHRCRV | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C166 | ADGRVCHRCRV | 1 | Drosophila melanogaster | C169 | EECHRCRVQFG | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C169 | RVCHRCRVEFT | 1 | Drosophila melanogaster | C190 | CGQIFCGKCSS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C190 | CGQVFCGQCTA | 1 | Drosophila melanogaster | C193 | IFCGKCSSKYS | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | C193 | VFCGQCTAKQC | 1 | Drosophila melanogaster | H180 | VMTRKHHCRAC | 2 | Homo sapiens, Bos taurus | H180 | VVTRKHHCRAC | 2 | Mus musculus, Rattus norvegicus | H180 | FTNRKHHCRNC | 1 | Drosophila melanogaster | H181 | MTRKHHCRACG | 2 | Homo sapiens, Bos taurus | H181 | VTRKHHCRACG | 2 | Mus musculus, Rattus norvegicus | H181 | TNRKHHCRNCG | 1 | Drosophila melanogaster | K179 | GVMTRKHHCRA | 2 | Homo sapiens, Bos taurus | K179 | GVVTRKHHCRA | 2 | Mus musculus, Rattus norvegicus | K179 | TFTNRKHHCRN | 1 | Drosophila melanogaster | R178 | FGVMTRKHHCR | 2 | Homo sapiens, Bos taurus | R178 | FGVVTRKHHCR | 2 | Mus musculus, Rattus norvegicus | R178 | FTFTNRKHHCR | 1 | Drosophila melanogaster | R183 | RKHHCRACGQI | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | R183 | RKHHCRNCGQV | 1 | Drosophila melanogaster | W160 | ERAPDWVDAEE | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W160 | DTAPNWADGRV | 1 | Drosophila melanogaster |
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