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mutLBSgeneDB |
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| Gene summary for ADH7 |
 Gene summary |
| Basic gene Info. | Gene symbol | ADH7 |
| Gene name | alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide | |
| Synonyms | ADH4 | |
| Cytomap | UCSC genome browser: 4q23-q24 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000673.4, NM_001166504.1, | |
| Description | alcohol dehydrogenase VIIalcohol dehydrogenase class 4 mu/sigma chainalcohol dehydrogenase class IV mu/sigma chainalcohol dehydrogenase-7class IV sigma-1 alcohol dehydrogenaseclass IV sigmasigma alcohol dehydrogenasegastric alcohol dehydrogenaseret | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 600086 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196344 | ||
| HPRD : 02515 | ||
| Vega : OTTHUMG00000159318 | ||
| Protein | UniProt: P40394 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADH7 | |
| BioGPS: 131 | ||
| Pathway | NCI Pathway Interaction Database: ADH7 | |
| KEGG: ADH7 | ||
| REACTOME: ADH7 | ||
| Pathway Commons: ADH7 | ||
| Context | iHOP: ADH7 | |
| ligand binding site mutation search in PubMed: ADH7 | ||
| UCL Cancer Institute: ADH7 | ||
| 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:0001523 | retinoid metabolic process | 9600267 | GO:0006069 | ethanol oxidation | 10969996 | GO:0009617 | response to bacterium | 11410738 | GO:0010430 | fatty acid omega-oxidation | 9600267 | GO:0045471 | response to ethanol | 9600267 | GO:0055114 | oxidation-reduction process | 7876099 | GO:1900116 | extracellular negative regulation of signal transduction | 9600267 |
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| Ligand binding site mutations for ADH7 |
| 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 | G211 | F210L | COAD | 2 | T190 | S189F | SKCM | 2 | V306 | P307S | BRCA | 1 | C116 | R117C | GBM | 1 | T190 | G191E | SKCM | 1 | F106 | P104S | SKCM | 1 | M153 | H151R | STAD | 1 | R381 | S379I | 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 ADH7 |
| 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 | G211 | F210L | 0.28505157 | R381 | S379I | 0.24706866 | F106 | P104S | -1.1850307 | C116 | R117C | -0.93055661 | T190 | G191E | -0.74075127 | T190 | S189F | -0.39281769 | V306 | P307S | -0.21969893 | M153 | H151R | -0.20618839 |
| (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 ADH7 from PDB |
| PDB ID | PDB title | PDB structure | 1AGN | X-RAY STRUCTURE OF HUMAN SIGMA ALCOHOL DEHYDROGENASE |  |
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| Differential gene expression and gene-gene network for ADH7 |
| 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 ADH7 |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0014859 | Esophageal Neoplasms | 1 | Biomarker, GeneticVariation |
| umls:C0023055 | Laryngeal Neoplasms | 1 | Biomarker, GeneticVariation |
| umls:C0026640 | Mouth Neoplasms | 1 | Biomarker |
| umls:C0031347 | Pharyngeal Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for ADH7 |
| 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 | DB00157 | NADH | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of ADH7 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 ADH7 |
| Multiple alignments for P40394 in multiple species |
| LBS | AA sequence | # species | Species | C110 | LFLPQCRECNA | 2 | Homo sapiens, Mus musculus | C110 | LFLPQCRECNP | 1 | Rattus norvegicus | C113 | PQCRECNACRN | 1 | Homo sapiens | C113 | PQCRECNACLN | 1 | Mus musculus | C113 | PQCRECNPCRN | 1 | Rattus norvegicus | C116 | RECNACRNPDG | 1 | Homo sapiens | C116 | RECNACLNPEG | 1 | Mus musculus | C116 | RECNPCRNPEG | 1 | Rattus norvegicus | C124 | PEGNLCIRSDL | 2 | Mus musculus, Rattus norvegicus | C124 | PDGNLCIRSDI | 1 | Homo sapiens | C186 | ACLIGCGFSTG | 2 | Mus musculus, Rattus norvegicus | C186 | VCLIGCGFSTG | 1 | Homo sapiens | C329 | RTWKGCVFGGW | 2 | Mus musculus, Rattus norvegicus | C329 | RTWKGCVFGGL | 1 | Homo sapiens | C59 | LATGICRTDDH | 2 | Homo sapiens, Mus musculus | C59 | LATGICGTDDH | 1 | Rattus norvegicus | D235 | RIIGIDINKDK | 2 | Mus musculus, Rattus norvegicus | D235 | RIIGIDLNKDK | 1 | Homo sapiens | E264 | TKPISEVLSDM | 2 | Mus musculus, Rattus norvegicus | E264 | TKPISEVLSEM | 1 | Homo sapiens | E268 | SEVLSDMTGNT | 2 | Mus musculus, Rattus norvegicus | E268 | SEVLSEMTGNN | 1 | Homo sapiens | F106 | KVIPLFLPQCR | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | F331 | WKGCVFGGWKS | 2 | Mus musculus, Rattus norvegicus | F331 | WKGCVFGGLKS | 1 | Homo sapiens | G211 | TCVVFGLGGVG | 2 | Homo sapiens, Mus musculus | G211 | TCAVFGLGGVG | 1 | Rattus norvegicus | G213 | VVFGLGGVGLS | 2 | Homo sapiens, Mus musculus | G213 | AVFGLGGVGLS | 1 | Rattus norvegicus | G214 | VFGLGGVGLSV | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | G282 | TFEVIGRLETM | 2 | Mus musculus, Rattus norvegicus | G282 | TFEVIGHLETM | 1 | Homo sapiens | G305 | TSVVVGAPPSA | 2 | Mus musculus, Rattus norvegicus | G305 | TSVVVGVPPSA | 1 | Homo sapiens | H283 | FEVIGRLETMV | 2 | Mus musculus, Rattus norvegicus | H283 | FEVIGHLETMI | 1 | Homo sapiens | H64 | CRTDDHVIKGT | 1 | Homo sapiens | H64 | CRTDDHIIKGS | 1 | Mus musculus | H64 | CGTDDHVIKGT | 1 | Rattus norvegicus | H80 | PVIVGHEATGI | 1 | Homo sapiens | H80 | PVIVGHEAVGV | 1 | Mus musculus | H80 | PVIVGHEAVGI | 1 | Rattus norvegicus | I281 | YTFEVIGRLET | 2 | Mus musculus, Rattus norvegicus | I281 | YTFEVIGHLET | 1 | Homo sapiens | K240 | DINKDKFQKAL | 2 | Mus musculus, Rattus norvegicus | K240 | DLNKDKFEKAM | 1 | Homo sapiens | L212 | CVVFGLGGVGL | 2 | Homo sapiens, Mus musculus | L212 | CAVFGLGGVGL | 1 | Rattus norvegicus | L236 | IIGIDINKDKF | 2 | Mus musculus, Rattus norvegicus | L236 | IIGIDLNKDKF | 1 | Homo sapiens | M153 | PVQHFMNTSTF | 2 | Mus musculus, Rattus norvegicus | M153 | PVHHFMNTSTF | 1 | Homo sapiens | N237 | IGIDINKDKFQ | 2 | Mus musculus, Rattus norvegicus | N237 | IGIDLNKDKFE | 1 | Homo sapiens | R381 | SGQSIRTVLTF | 2 | Homo sapiens, Rattus norvegicus | R381 | SGKSIRTVLTF | 1 | Mus musculus | R60 | ATGICRTDDHV | 1 | Homo sapiens | R60 | ATGICRTDDHI | 1 | Mus musculus | R60 | ATGICGTDDHV | 1 | Rattus norvegicus | T190 | GCGFSTGYGAA | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | T61 | TGICRTDDHVI | 1 | Homo sapiens | T61 | TGICRTDDHII | 1 | Mus musculus | T61 | TGICGTDDHVI | 1 | Rattus norvegicus | V215 | FGLGGVGLSVI | 2 | Homo sapiens, Mus musculus | V215 | FGLGGVGLSVV | 1 | Rattus norvegicus | V280 | QYTFEVIGRLE | 2 | Mus musculus, Rattus norvegicus | V280 | GYTFEVIGHLE | 1 | Homo sapiens | V304 | GTSVVVGAPPS | 2 | Mus musculus, Rattus norvegicus | V304 | GTSVVVGVPPS | 1 | Homo sapiens | V306 | SVVVGAPPSAK | 2 | Mus musculus, Rattus norvegicus | V306 | SVVVGVPPSAK | 1 | Homo sapiens | V330 | TWKGCVFGGWK | 2 | Mus musculus, Rattus norvegicus | V330 | TWKGCVFGGLK | 1 | Homo sapiens |
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