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| Phenotypic Information (metabolism pathway, cancer, disease, phenome) |
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| Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG |
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| Gene Summary for ADH1B |
| Basic gene info. | Gene symbol | ADH1B |
| Gene name | alcohol dehydrogenase 1B (class I), beta polypeptide | |
| Synonyms | ADH2|HEL-S-117 | |
| Cytomap | UCSC genome browser: 4q23 | |
| Genomic location | chr4 :100227526-100242572 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000668.5, NM_001286650.1, | |
| Ensembl id | ENSG00000196616 | |
| Description | ADH, beta subunitalcohol dehydrogenase 1Balcohol dehydrogenase 2 (class I), beta polypeptidealcohol dehydrogenase subunit betaaldehyde reductaseepididymis secretory protein Li 117 | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 103720 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000196616 | ||
| HPRD : 00065 | ||
| Protein | UniProt: go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_ADH1B | |
| BioGPS: 125 | ||
| Gene Expression Atlas: ENSG00000196616 | ||
| The Human Protein Atlas: ENSG00000196616 | ||
| Pathway | NCI Pathway Interaction Database: ADH1B | |
| KEGG: ADH1B | ||
| REACTOME: ADH1B | ||
| ConsensusPathDB | ||
| Pathway Commons: ADH1B | ||
| Metabolism | MetaCyc: ADH1B | |
| HUMANCyc: ADH1B | ||
| Regulation | Ensembl's Regulation: ENSG00000196616 | |
| miRBase: chr4 :100,227,526-100,242,572 | ||
| TargetScan: NM_000668 | ||
| cisRED: ENSG00000196616 | ||
| Context | iHOP: ADH1B | |
| cancer metabolism search in PubMed: ADH1B | ||
| UCL Cancer Institute: ADH1B | ||
| Assigned class in ccmGDB | C | |
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| Phenotypic Information for ADH1B(metabolism pathway, cancer, disease, phenome) |
| Cancer | CGAP: ADH1B |
| Familial Cancer Database: ADH1B | |
| * This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in | |||||||||||||||||||
| cf) number; DB name 1 Oncogene; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 2 Tumor Suppressor gene; https://bioinfo.uth.edu/TSGene/, 3 Cancer Gene Census; http://www.nature.com/nrc/journal/v4/n3/abs/nrc1299.html, 4 CancerGenes; http://nar.oxfordjournals.org/content/35/suppl_1/D721.long, 5 Network of Cancer Gene; http://ncg.kcl.ac.uk/index.php, 1Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
| KEGG_GLYCOLYSIS_GLUCONEOGENESIS KEGG_FATTY_ACID_METABOLISM KEGG_TYROSINE_METABOLISM KEGG_RETINOL_METABOLISM KEGG_METABOLISM_OF_XENOBIOTICS_BY_CYTOCHROME_P450 KEGG_DRUG_METABOLISM_CYTOCHROME_P450 | |
| OMIM | |
| Orphanet | |
| Disease | KEGG Disease: ADH1B |
| MedGen: ADH1B (Human Medical Genetics with Condition) | |
| ClinVar: ADH1B | |
| Phenotype | MGI: ADH1B (International Mouse Phenotyping Consortium) |
| PhenomicDB: ADH1B | |
| Mutations for ADH1B |
| * Under tables are showing count per each tissue to give us broad intuition about tissue specific mutation patterns.You can go to the detailed page for each mutation database's web site. |
| There's no structural variation information in COSMIC data for this gene. |
| * From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows ADH1B related fusion information. |
| ID | Head Gene | Tail Gene | Accession | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a | Gene_a | qStart_a | qEnd_a | Chromosome_a | tStart_a | tEnd_a |
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| There's no copy number variation information in COSMIC data for this gene. |
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| Stat. for Non-Synonymous SNVs (# total SNVs=44) | (# total SNVs=18) |
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(# total SNVs=5) | (# total SNVs=0) |
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| * When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site,primary_histology,mutation(aa),pubmedID. |
| GRCh37 position | Mutation(aa) | Unique sampleID count |
| chr4:100235226-100235226 | p.S194P | 5 |
| chr4:100235009-100235009 | p.S266L | 5 |
| chr4:100235037-100235037 | p.E257K | 4 |
| chr4:100239275-100239275 | p.P63S | 3 |
| chr4:100239941-100239941 | p.? | 2 |
| chr4:100231927-100231927 | p.G366G | 2 |
| chr4:100231928-100231928 | p.G366V | 2 |
| chr4:100237199-100237199 | p.F141F | 2 |
| chr4:100235240-100235240 | p.? | 2 |
| chr4:100239237-100239237 | p.E75E | 2 |
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| Point Mutation/ Tissue ID | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 | 20 |
| # sample | 1 | 1 |   | 13 | 2 |   | 1 |   | 3 |   |   | 13 | 2 | 1 |   | 1 | 36 | 2 |   | 9 |
| # mutation | 1 | 1 |   | 10 | 2 |   | 1 |   | 3 |   |   | 14 | 2 | 1 |   | 1 | 33 | 3 |   | 9 |
| nonsynonymous SNV | 1 |   |   | 5 | 2 |   |   |   | 1 |   |   | 12 | 1 | 1 |   | 1 | 23 | 3 |   | 7 |
| synonymous SNV |   | 1 |   | 5 |   |   | 1 |   | 2 |   |   | 2 | 1 |   |   |   | 10 |   |   | 2 |
| cf) Tissue ID; Tissue type (1; BLCA[Bladder Urothelial Carcinoma], 2; BRCA[Breast invasive carcinoma], 3; CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], 4; COAD[Colon adenocarcinoma], 5; GBM[Glioblastoma multiforme], 6; Glioma Low Grade, 7; HNSC[Head and Neck squamous cell carcinoma], 8; KICH[Kidney Chromophobe], 9; KIRC[Kidney renal clear cell carcinoma], 10; KIRP[Kidney renal papillary cell carcinoma], 11; LAML[Acute Myeloid Leukemia], 12; LUAD[Lung adenocarcinoma], 13; LUSC[Lung squamous cell carcinoma], 14; OV[Ovarian serous cystadenocarcinoma ], 15; PAAD[Pancreatic adenocarcinoma], 16; PRAD[Prostate adenocarcinoma], 17; SKCM[Skin Cutaneous Melanoma], 18:STAD[Stomach adenocarcinoma], 19:THCA[Thyroid carcinoma], 20:UCEC[Uterine Corpus Endometrial Carcinoma]) |
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| * We represented just top 10 SNVs. When you move the cursor on each content, you can see more deailed mutation information on the Tooltip. Those are primary_site, primary_histology, mutation(aa), pubmedID. |
| Genomic Position | Mutation(aa) | Unique sampleID count |
| chr4:100235226 | p.S194P,ADH1B | 5 |
| chr4:100235037 | p.E257K,ADH1B | 4 |
| chr4:100235009 | p.S266L,ADH1B | 3 |
| chr4:100234992 | p.R272W,ADH1B | 2 |
| chr4:100239275 | p.G366G,ADH1B | 2 |
| chr4:100231927 | p.E75D,ADH1B | 2 |
| chr4:100239237 | p.P63S,ADH1B | 2 |
| chr4:100235228 | p.G288G,ADH1B | 1 |
| chr4:100232699 | p.A214E,ADH1B | 1 |
| chr4:100237249 | p.H140Y,ADH1B | 1 |
| * Copy number data were extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered on Jan-05-2015. Function ProcessCNAData in TCGA-Assembler package was used to obtain gene-level copy number value which is calculated as the average copy number of the genomic region of a gene. |
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| cf) Tissue ID[Tissue type]: BLCA[Bladder Urothelial Carcinoma], BRCA[Breast invasive carcinoma], CESC[Cervical squamous cell carcinoma and endocervical adenocarcinoma], COAD[Colon adenocarcinoma], GBM[Glioblastoma multiforme], Glioma Low Grade, 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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| Gene Expression for ADH1B |
| * CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
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| * Normalized gene expression data of RNASeqV2 was extracted from TCGA using R package TCGA-Assembler. The URLs of all public data files on TCGA DCC data server were gathered at Jan-05-2015. Only eight cancer types have enough normal control samples for differential expression analysis. (t test, adjusted p<0.05 (using Benjamini-Hochberg FDR)) |
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| * This plots show the correlation between CNV and gene expression. |
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| Gene-Gene Network Information |
| * Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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| ACVR1C,ADH1A,ADH1B,ADIPOQ,AOC3,AQP7,AQP7P1, AQPEP,C14orf180,CHRDL1,CIDEA,CIDEC,GPD1,HEPACAM, KCNIP2,KLB,LIPE,LOC283392,PLIN1,SLC19A3,TMEM132C | ABHD15,ACACB,ACSS3,ACVR1C,ADH1A,ADH1B,ANKRD53, SMIM3,RHOV___CHP1,CIDEA,CNTFR,DNAH9,EIF4EBP2,EPB41L4B, GHR,HADH,LOC283392,PDE1B,PECR,SLC19A3,TMEM132C | ||||
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| ABCA9,ACSM5,ADH1B,ADIPOQ,CD300LG,CD36,CIDEA, FABP4,GPX3,HEPACAM,KCNIP2,LEP,LGALS12,LIPE, LOC339524,MRAP,PLIN1,PLIN4,SCN4A,SEMA3G,TUSC5 | ABCA6,ADH1B,ANGPT1,CNRIP1,CXCL12,FAM13C,FAM198B, FMO2,GALNT11,GLT8D2,LHFP,MAPK10,NIPSNAP3B,NRN1, OGN,PDE1A,RECK,RGL1,SEPT4,SLC35G2,UST |
| * Co-Expression network figures were drawn using R package igraph. Only the top 20 genes with the highest correlations were shown. Red circle: input gene, orange circle: cell metabolism gene, sky circle: other gene |
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| Pharmacological Information for ADH1B |
| DB Category | DB Name | DB's ID and Url link |
| * Gene Centered Interaction Network. |
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| * Drug Centered Interaction Network. |
| DrugBank ID | Target Name | Drug Groups | Generic Name | Drug Centered Network | Drug Structure |
| DB00157 | alcohol dehydrogenase 1B (class I), beta polypeptide | approved; nutraceutical | NADH | ![]() | ![]() |
| DB00898 | alcohol dehydrogenase 1B (class I), beta polypeptide | approved | Ethanol | ![]() | ![]() |
| DB01213 | alcohol dehydrogenase 1B (class I), beta polypeptide | approved | Fomepizole | ![]() | ![]() |
| DB01907 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | Nicotinamide-Adenine-Dinucleotide | ![]() | ![]() |
| DB02481 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | N-Benzylformamide | ![]() | ![]() |
| DB02721 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | 4-Iodopyrazole | ![]() | ![]() |
| DB03461 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | 2'-Monophosphoadenosine 5'-Diphosphoribose | ![]() | ![]() |
| DB03703 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | Cyclohexanol | ![]() | ![]() |
| DB04077 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | Glycerol | ![]() | ![]() |
| DB04105 | alcohol dehydrogenase 1B (class I), beta polypeptide | experimental | N-Heptylformamide | ![]() | ![]() |
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| Cross referenced IDs for ADH1B |
| * We obtained these cross-references from Uniprot database. It covers 150 different DBs, 18 categories. http://www.uniprot.org/help/cross_references_section |
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