mutLBSgeneDB |
Gene summary for GFER |
Gene summary |
Basic gene Info. | Gene symbol | GFER |
Gene name | growth factor, augmenter of liver regeneration | |
Synonyms | ALR|ERV1|HERV1|HPO|HPO1|HPO2|HSS | |
Cytomap | UCSC genome browser: 16p13.3-p13.12 | |
Type of gene | protein-coding | |
RefGenes | NM_005262.2, | |
Description | ERV1 homologFAD-linked sulfhydryl oxidase ALRerv1-like growth factorhepatic regenerative stimulation substancehepatopoietin protein | |
Modification date | 20141207 | |
dbXrefs | MIM : 600924 | |
HGNC : HGNC | ||
Ensembl : ENSG00000127554 | ||
HPRD : 02954 | ||
Vega : OTTHUMG00000176896 | ||
Protein | UniProt: P55789 go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_GFER | |
BioGPS: 2671 | ||
Pathway | NCI Pathway Interaction Database: GFER | |
KEGG: GFER | ||
REACTOME: GFER | ||
Pathway Commons: GFER | ||
Context | iHOP: GFER | |
ligand binding site mutation search in PubMed: GFER | ||
UCL Cancer Institute: GFER | ||
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 GFER |
Cancer type specific mutLBS sorted by frequency |
LBS | AAchange of nsSNV | Cancer type | # samples | N175 | N175S | LUSC | 1 | R179 | R179S | SKCM | 1 | R194 | E193A | STAD | 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 GFER |
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 |
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 | R194 | E193A | -1.0907832 | R179 | R179S | -0.77328939 | N175 | N175S | -0.70235781 |
(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 GFER from PDB |
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Differential gene expression and gene-gene network for GFER |
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 GFER |
Gene level disease information (DisGeNet) |
Disease ID | Disease name | # PubMed | Association type |
umls:C0162557 | Liver Failure, Acute | 2 | Biomarker, Therapeutic |
umls:C2751320 | Myopathy, Mitochondrial Progressive, With Congenital Cataract, Hearing Loss, And Developmental Delay | 1 | Biomarker, GeneticVariation |
umls:C2609414 | Acute Kidney Injury | 1 | Biomarker, Therapeutic |
umls:C0392622 | Carbon Tetrachloride Poisoning | 1 | Therapeutic |
Mutation level pathogenic information (ClinVar annotation) |
Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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Pharmacological information for GFER |
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. |
Gene-centered drug-gene interaction network |
Drug information targeting mutLBSgene (Approved drugs only) |
Drug status | DrugBank ID | Name | Type | Drug structure |
Approved | DB03147 | Flavin adenine dinucleotide | Small molecule |
Gene-centered ligand-gene interaction network |
Ligands binding to mutated ligand binding site of GFER go to BioLip |
Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | FAD | FAD | 3mbg | A | N175 R194 | FAD | FAD | 3mbg | B | N175 R194 | FAD | FAD | 3mbg | C | N175 R194 | FAD | FAD | 3tk0 | A | N175 R194 | FAD | FAD | 3u2l | A | N175 R194 | FAD | FAD | 3u2m | A | N175 R194 | FAD | FAD | 3u5s | A | N175 R194 | ZN | ZINC(2+) | 3mbg | A | R179 | ZN | ZINC(2+) | 3mbg | B | R179 |
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Conservation information for LBS of GFER |
Multiple alignments for P55789 in multiple species |
LBS | AA sequence | # species | Species | C145 | YPCEECAEDIR | 2 | Mus musculus, Rattus norvegicus | C145 | YPCEECAEDLR | 1 | Homo sapiens | C171 | FSQWLCRLHNE | 2 | Mus musculus, Rattus norvegicus | C171 | FTQWLCHLHNE | 1 | Homo sapiens | D148 | EECAEDIRKRI | 2 | Mus musculus, Rattus norvegicus | D148 | EECAEDLRKRL | 1 | Homo sapiens | E100 | CPPDREELGRH | 1 | Homo sapiens | E100 | CPQDREELGRH | 1 | Mus musculus | E100 | CPQDREELGRN | 1 | Rattus norvegicus | E101 | PPDREELGRHS | 1 | Homo sapiens | E101 | PQDREELGRHT | 1 | Mus musculus | E101 | PQDREELGRNT | 1 | Rattus norvegicus | E176 | CRLHNEVNRKL | 2 | Mus musculus, Rattus norvegicus | E176 | CHLHNEVNRKL | 1 | Homo sapiens | F186 | LGKPDFDCSRV | 2 | Mus musculus, Rattus norvegicus | F186 | LGKPDFDCSKV | 1 | Homo sapiens | G103 | DREELGRHSWA | 1 | Homo sapiens | G103 | DREELGRHTWA | 1 | Mus musculus | G103 | DREELGRNTWA | 1 | Rattus norvegicus | H105 | EELGRHSWAVL | 1 | Homo sapiens | H105 | EELGRHTWAFL | 1 | Mus musculus | H105 | EELGRNTWAFL | 1 | Rattus norvegicus | H111 | TWAFLHTLAAY | 2 | Mus musculus, Rattus norvegicus | H111 | SWAVLHTLAAY | 1 | Homo sapiens | H134 | MAQFIHIFSKF | 2 | Mus musculus, Rattus norvegicus | H134 | MAQFIHLFSKF | 1 | Homo sapiens | H157 | RLCRNHPDTRT | 1 | Homo sapiens | H157 | RIGRNQPDTST | 1 | Mus musculus | H157 | RIDRSQPDTST | 1 | Rattus norvegicus | H172 | SQWLCRLHNEV | 2 | Mus musculus, Rattus norvegicus | H172 | TQWLCHLHNEV | 1 | Homo sapiens | H174 | WLCRLHNEVNR | 2 | Mus musculus, Rattus norvegicus | H174 | WLCHLHNEVNR | 1 | Homo sapiens | K180 | NEVNRKLGKPD | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | K183 | NRKLGKPDFDC | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | L149 | ECAEDLRKRLC | 1 | Homo sapiens | L149 | ECAEDIRKRIG | 1 | Mus musculus | L149 | ECAEDIRKRID | 1 | Rattus norvegicus | L181 | EVNRKLGKPDF | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | N175 | LCRLHNEVNRK | 2 | Mus musculus, Rattus norvegicus | N175 | LCHLHNEVNRK | 1 | Homo sapiens | N178 | LHNEVNRKLGK | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R104 | REELGRHSWAV | 1 | Homo sapiens | R104 | REELGRHTWAF | 1 | Mus musculus | R104 | REELGRNTWAF | 1 | Rattus norvegicus | R179 | HNEVNRKLGKP | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R194 | SRVDERWRDGW | 2 | Mus musculus, Rattus norvegicus | R194 | SKVDERWRDGW | 1 | Homo sapiens | R99 | DCPQDREELGR | 2 | Mus musculus, Rattus norvegicus | R99 | DCPPDREELGR | 1 | Homo sapiens | S106 | ELGRHSWAVLH | 1 | Homo sapiens | S106 | ELGRHTWAFLH | 1 | Mus musculus | S106 | ELGRNTWAFLH | 1 | Rattus norvegicus | V177 | RLHNEVNRKLG | 2 | Mus musculus, Rattus norvegicus | V177 | HLHNEVNRKLG | 1 | Homo sapiens | W107 | LGRHSWAVLHT | 1 | Homo sapiens | W107 | LGRHTWAFLHT | 1 | Mus musculus | W107 | LGRNTWAFLHT | 1 | Rattus norvegicus | W195 | RVDERWRDGWK | 2 | Mus musculus, Rattus norvegicus | W195 | KVDERWRDGWK | 1 | Homo sapiens | Y140 | IFSKFYPCEEC | 2 | Mus musculus, Rattus norvegicus | Y140 | LFSKFYPCEEC | 1 | Homo sapiens |
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