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mutLBSgeneDB |
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| Gene summary for HGFAC |
 Gene summary |
| Basic gene Info. | Gene symbol | HGFAC |
| Gene name | HGF activator | |
| Synonyms | HGFA | |
| Cytomap | UCSC genome browser: 4p16 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001297439.1, NM_001528.3, | |
| Description | hepatocyte growth factor activator | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 604552 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000109758 | ||
| HPRD : 05184 | ||
| Vega : OTTHUMG00000090281 | ||
| Protein | UniProt: Q04756 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_HGFAC | |
| BioGPS: 3083 | ||
| Pathway | NCI Pathway Interaction Database: HGFAC | |
| KEGG: HGFAC | ||
| REACTOME: HGFAC | ||
| Pathway Commons: HGFAC | ||
| Context | iHOP: HGFAC | |
| ligand binding site mutation search in PubMed: HGFAC | ||
| UCL Cancer Institute: HGFAC | ||
| 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 HGFAC |
| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | G629 | R631W | BRCA | 1 | G621 | G621S | GBM | 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 HGFAC |
| 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 | G621 | G621S | -0.53243779 |
| (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 HGFAC from PDB |
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| Differential gene expression and gene-gene network for HGFAC |
| 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 HGFAC |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C2239176 | Carcinoma, Hepatocellular | 3 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for HGFAC |
| 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 HGFAC go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS |
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| Conservation information for LBS of HGFAC |
| Multiple alignments for Q04756 in multiple species |
| LBS | AA sequence | # species | Species | A593 | DCKSDACQGDS | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | A610 | EKNGVAYLYGI | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | C521 | FVQPICLPEPG | 1 | Homo sapiens | C521 | FVQPICLPEAG | 1 | Mus musculus | C521 | FVQPICLPEPS | 1 | Canis lupus familiaris | C594 | CKSDACQGDSG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D576 | EVYGADISPNM | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D592 | FDCKSDACQGD | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | D620 | IISWGDGCGRL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | E605 | GPLACEKNGVA | 2 | Homo sapiens, Canis lupus familiaris | E605 | GPLVCEKNGVA | 1 | Mus musculus | G417 | SSSLPGSHPWL | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G596 | SDACQGDSGGP | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G608 | ACEKNGVAYLY | 2 | Homo sapiens, Canis lupus familiaris | G608 | VCEKNGVAYLY | 1 | Mus musculus | G619 | GIISWGDGCGR | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | G621 | ISWGDGCGRLN | 2 | Mus musculus, Canis lupus familiaris | G621 | ISWGDGCGRLH | 1 | Homo sapiens | G629 | RLNKPGVYTRV | 2 | Mus musculus, Canis lupus familiaris | G629 | RLHKPGVYTRV | 1 | Homo sapiens | H447 | VVSAAHCFSHS | 1 | Homo sapiens | H447 | VVSAAHCFANS | 1 | Mus musculus | H447 | VVSAAHCFSNS | 1 | Canis lupus familiaris | I520 | QFVQPICLPEP | 2 | Homo sapiens, Canis lupus familiaris | I520 | QFVQPICLPEA | 1 | Mus musculus | I616 | YLYGIISWGDG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | P493 | YSVFNPSDHDL | 2 | Homo sapiens, Canis lupus familiaris | P493 | YSVFNPNNHDL | 1 | Mus musculus | P519 | SQFVQPICLPE | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | Q515 | CATRSQFVQPI | 1 | Homo sapiens | Q515 | CAVRSQFVQPI | 1 | Mus musculus | Q515 | CAIRSQFVQPI | 1 | Canis lupus familiaris | Q518 | RSQFVQPICLP | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | Q536 | AGHKCQIAGWG | 2 | Homo sapiens, Canis lupus familiaris | Q536 | TGHKCQIAGWG | 1 | Mus musculus | Q595 | KSDACQGDSGG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | R513 | DRCATRSQFVQ | 1 | Homo sapiens | R513 | ERCAVRSQFVQ | 1 | Mus musculus | R513 | DRCAIRSQFVQ | 1 | Canis lupus familiaris | S418 | SSLPGSHPWLA | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | S494 | SVFNPSDHDLV | 2 | Homo sapiens, Canis lupus familiaris | S494 | SVFNPNNHDLV | 1 | Mus musculus | S598 | ACQGDSGGPLA | 2 | Homo sapiens, Canis lupus familiaris | S598 | ACQGDSGGPLV | 1 | Mus musculus | S617 | LYGIISWGDGC | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | V609 | CEKNGVAYLYG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | W421 | PGSHPWLAAIY | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris | W618 | YGIISWGDGCG | 3 | Homo sapiens, Mus musculus, Canis lupus familiaris |
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