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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
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 Description | |
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/ |
Metabolic Pathway Description | |
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 |
Others | |
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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
There's no structural variation information in COSMIC data for this gene. |
Related fusion transcripts : go to Chitars2.0 |
* 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 |
Other DBs for Structural Variants |
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Copy Number Variations in COSMIC: go to COSMIC mutation CNV/Expr |
There's no copy number variation information in COSMIC data for this gene. |
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SNV Counts per Each Loci in COSMIC data: go to COSMIC point mutation |
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Somatic Mutation Counts per Tissue in COSMIC data |
Stat. for Non-Synonymous SNVs (# total SNVs=44) | (# total SNVs=18) |
(# total SNVs=5) | (# total SNVs=0) |
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Top 10 SNVs Having the Most Samples in COSMIC data |
* 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 |
chr4:100232725-100232725 | p.P306H | 2 |
chr4:100234992-100234992 | p.R272W | 2 |
chr4:100239941-100239941 | p.? | 2 |
chr4:100231927-100231927 | p.G366G | 2 |
chr4:100231928-100231928 | p.G366V | 2 |
chr4:100237199-100237199 | p.F141F | 2 |
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SNV Counts per Each Loci in TCGA data |
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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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Top 10 SNVs Having the Most Samples in TCGA data |
* 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 |
chr4:100239237 | p.P63S,ADH1B | 2 |
chr4:100234992 | p.R272W,ADH1B | 2 |
chr4:100239275 | p.G366G,ADH1B | 2 |
chr4:100231927 | p.E75D,ADH1B | 2 |
chr4:100239230 | p.E235K,ADH1B | 1 |
chr4:100231963 | p.L167Q,ADH1B | 1 |
chr4:100235225 | p.I65I,ADH1B | 1 |
Other DBs for Point Mutations |
Copy Number for ADH1B in TCGA |
* 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. |
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 |
Gene Expression in Cancer Cell-lines (CCLE) |
* CCLE gene expression data were extracted from CCLE_Expression_Entrez_2012-10-18.res: Gene-centric RMA-normalized mRNA expression data. |
Differential Gene Expression in Primary Tumors (TCGA) |
* 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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CNV vs Gene Expression Plot |
* This plots show the correlation between CNV and gene expression. |
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Gene-Gene Network Information |
Co-Expressed gene's network Plot |
* 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 |
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 | ||||
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-Expressed gene's Protein-protein interaction Network Plot |
* 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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Interacting Genes (from Pathway Commons) |
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Pharmacological Information for ADH1B |
Cross-referenced pharmacological DB IDs from Uniprot |
DB Category | DB Name | DB's ID and Url link |
Drug-Gene Interaction Network |
* Gene Centered Interaction Network. |
* 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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