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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 MED23 |
| Basic gene info. | Gene symbol | MED23 |
| Gene name | mediator complex subunit 23 | |
| Synonyms | ARC130|CRSP130|CRSP133|CRSP3|DRIP130|MRT18|SUR-2|SUR2 | |
| Cytomap | UCSC genome browser: 6q22.33-q24.1 | |
| Genomic location | chr6 :131895105-131949363 | |
| Type of gene | protein-coding | |
| RefGenes | NM_001270521.1, NM_001270522.1,NM_004830.3,NM_015979.3, | |
| Ensembl id | ENSG00000112282 | |
| Description | 130 kDa transcriptional co-activator133 kDa transcriptional co-activatoractivator-recruited cofactor 130 kDa componentcofactor required for Sp1 transcriptional activation subunit 3mediator of RNA polymerase II transcription subunit 23vitamin D3 recep | |
| Modification date | 20141207 | |
| dbXrefs | MIM : 605042 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000112282 | ||
| HPRD : 05436 | ||
| Vega : OTTHUMG00000015565 | ||
| Protein | UniProt: Q9ULK4 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_MED23 | |
| BioGPS: 9439 | ||
| Gene Expression Atlas: ENSG00000112282 | ||
| The Human Protein Atlas: ENSG00000112282 | ||
| Pathway | NCI Pathway Interaction Database: MED23 | |
| KEGG: MED23 | ||
| REACTOME: MED23 | ||
| ConsensusPathDB | ||
| Pathway Commons: MED23 | ||
| Metabolism | MetaCyc: MED23 | |
| HUMANCyc: MED23 | ||
| Regulation | Ensembl's Regulation: ENSG00000112282 | |
| miRBase: chr6 :131,895,105-131,949,363 | ||
| TargetScan: NM_001270521 | ||
| cisRED: ENSG00000112282 | ||
| Context | iHOP: MED23 | |
| cancer metabolism search in PubMed: MED23 | ||
| UCL Cancer Institute: MED23 | ||
| Assigned class in ccmGDB | B - This gene belongs to cancer gene. | |
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| Phenotypic Information for MED23(metabolism pathway, cancer, disease, phenome) |
| Cancer | CGAP: MED23 |
| Familial Cancer Database: MED23 | |
| * This gene is included in those cancer gene databases. |
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Oncogene 1 | Significant driver gene in BRCA 6, | |||||||||||||||||||
| 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, 6 http://www.nature.com/nature/journal/v490/n7418/full/nature11412.html, 7Therapeutic Vulnerabilities in Cancer; http://cbio.mskcc.org/cancergenomics/statius/ |
| REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS | |
| OMIM | 605042; gene. 605042; gene. 614249; phenotype. 614249; phenotype. |
| Orphanet | 88616; Autosomal recessive non-syndromic intellectual disability. 88616; Autosomal recessive non-syndromic intellectual disability. |
| Disease | KEGG Disease: MED23 |
| MedGen: MED23 (Human Medical Genetics with Condition) | |
| ClinVar: MED23 | |
| Phenotype | MGI: MED23 (International Mouse Phenotyping Consortium) |
| PhenomicDB: MED23 | |
| Mutations for MED23 |
| * 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. |
| - Statistics for Tissue and Mutation type | Top |
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| - For Inter-chromosomal Variations |
| There's no inter-chromosomal structural variation. |
| - For Intra-chromosomal Variations |
| * Intra-chromosomal variantions includes 'intrachromosomal amplicon to amplicon', 'intrachromosomal amplicon to non-amplified dna', 'intrachromosomal deletion', 'intrachromosomal fold-back inversion', 'intrachromosomal inversion', 'intrachromosomal tandem duplication', 'Intrachromosomal unknown type', 'intrachromosomal with inverted orientation', 'intrachromosomal with non-inverted orientation'. |
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| Sample | Symbol_a | Chr_a | Start_a | End_a | Symbol_b | Chr_b | Start_b | End_b |
| cf) Tissue number; Tissue name (1;Breast, 2;Central_nervous_system, 3;Haematopoietic_and_lymphoid_tissue, 4;Large_intestine, 5;Liver, 6;Lung, 7;Ovary, 8;Pancreas, 9;Prostate, 10;Skin, 11;Soft_tissue, 12;Upper_aerodigestive_tract) |
| * From mRNA Sanger sequences, Chitars2.0 arranged chimeric transcripts. This table shows MED23 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 |
| CN388362 | MMP14 | 13 | 63 | 14 | 23305808 | 23305858 | MED23 | 55 | 275 | 6 | 131908097 | 131908317 | |
| AA648640 | MED23 | 5 | 95 | 6 | 131932398 | 131932488 | MED23 | 89 | 434 | 6 | 131932481 | 131932825 | |
| AA721515 | MED23 | 7 | 97 | 6 | 131932398 | 131932488 | MED23 | 91 | 469 | 6 | 131932481 | 131932859 | |
| AA648178 | MED23 | 6 | 96 | 6 | 131932398 | 131932488 | MED23 | 90 | 406 | 6 | 131932481 | 131932798 | |
| BQ223279 | MED23 | 43 | 98 | 6 | 131910602 | 131910657 | MED23 | 97 | 879 | 6 | 131908205 | 131908986 | |
| AW363299 | MED23 | 20 | 89 | 6 | 131930300 | 131930370 | MED23 | 74 | 644 | 6 | 131931103 | 131931678 | |
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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=75) | (# total SNVs=19) |
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(# total SNVs=12) | (# total SNVs=2) |
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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 |
| chr6:131919885-131919885 | p.N746fs*11 | 3 |
| chr6:131921249-131921249 | p.Q717* | 3 |
| chr6:131912472-131912472 | p.Q1223* | 3 |
| chr6:131911468-131911468 | p.M1267I | 2 |
| chr6:131931276-131931276 | p.L329L | 2 |
| chr6:131917822-131917822 | p.R872C | 2 |
| chr6:131927661-131927661 | p.K442T | 2 |
| chr6:131939626-131939626 | p.S234L | 2 |
| chr6:131944520-131944520 | p.R123W | 2 |
| chr6:131937037-131937037 | p.? | 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 | 5 |   | 13 |   |   | 7 |   | 3 |   |   | 8 | 5 |   |   |   | 8 | 13 | 1 | 13 |
| # mutation | 1 | 5 |   | 16 |   |   | 7 |   | 3 |   |   | 8 | 5 |   |   |   | 8 | 16 | 1 | 14 |
| nonsynonymous SNV | 1 | 5 |   | 12 |   |   | 4 |   | 2 |   |   | 4 | 4 |   |   |   | 4 | 10 | 1 | 11 |
| synonymous SNV |   |   |   | 4 |   |   | 3 |   | 1 |   |   | 4 | 1 |   |   |   | 4 | 6 |   | 3 |
| 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 |
| chr6:131912565 | p.D1192Y,MED23 | 3 |
| chr6:131931276 | p.L329L,MED23 | 2 |
| chr6:131929091 | p.D400N,MED23 | 2 |
| chr6:131915244 | p.Y1186F,MED23 | 1 |
| chr6:131926585 | p.M922I,MED23 | 1 |
| chr6:131946127 | p.K549T,MED23 | 1 |
| chr6:131917827 | p.G368G,MED23 | 1 |
| chr6:131931197 | p.K139N,MED23 | 1 |
| chr6:131912516 | p.I1153I,MED23 | 1 |
| chr6:131924311 | p.R872C,MED23 | 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 MED23 |
| * 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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| AIM1,AKAP7,ASCC3,ATG5,BCLAF1,C6orf203,ENPP1, GOLGA1,HBS1L,LATS1,LOC100129034,MED23,NEDD1,PDSS2, PREP,QRSL1,SCAF8,RTN4IP1,SENP6,SHPRH,STX7 | ARID2,MMS22L,TBC1D32,CCNT2,CD2AP,CNOT6,DCAF17, MED23,PHF6,PPIP5K2,RBM26,SMARCAD1,TRIM33,USP37, WRN,ZBTB26,ZNF24,ZNF260,ZNF417,ZNF518A,ZNF91 |
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| BAZ2B,CDK19,DOPEY1,ERCC6,FAM120B,FBXL4,GOPC, HEATR5B,GLTSCR1L,UFL1,KLHL24,LATS1,MED23,PHC3, PHF3,RASA2,SCAF8,SENP6,SHPRH,TAB2,ZNF292 | CEP192,CMTM4,DOPEY2,ERCC6,HEATR5B,HOXA6,JRKL, KIAA1147,LIMD1,MBTD1,MED23,NFYA,PHLPP1,PTCH1, TTC17,ZCCHC8,ZFP62,ZKSCAN1,ZNF141,ZNF41,ZNF81 |
| * 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 MED23 |
| There's no related Drug. |
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| Cross referenced IDs for MED23 |
| * 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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