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Phenotypic Information (metabolism pathway, cancer, disease, phenome) | |
Gene-Gene Network Information: Co-Expression Network, Interacting Genes & KEGG | |
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 Description | |
Cancer | CGAP: MED23 |
Familial Cancer Database: MED23 |
* This gene is included in those cancer gene databases. |
. | ||||||||||||||||||||
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/ |
Metabolic Pathway Description | |
REACTOME_METABOLISM_OF_LIPIDS_AND_LIPOPROTEINS |
Others | |
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. |
Structural Variants in COSMIC: go to COSMIC mutation histogram |
- Statistics for Tissue and Mutation type | Top |
- 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'. |
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) |
Related fusion transcripts : go to Chitars2.0 |
* 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 |
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=75) | (# total SNVs=19) |
(# total SNVs=12) | (# total SNVs=2) |
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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 |
chr6:131919885-131919885 | p.N746fs*11 | 3 |
chr6:131921249-131921249 | p.Q717* | 3 |
chr6:131912472-131912472 | p.Q1223* | 3 |
chr6:131908944-131908944 | p.R1328C | 2 |
chr6:131929091-131929091 | p.D400N | 2 |
chr6:131912565-131912565 | p.D1192Y | 2 |
chr6:131925356-131925356 | p.Y573C | 2 |
chr6:131911468-131911468 | p.M1267I | 2 |
chr6:131931276-131931276 | p.L329L | 2 |
chr6:131917822-131917822 | p.R872C | 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 | 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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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 |
chr6:131912565 | p.D1192Y,MED23 | 3 |
chr6:131931276 | p.D400N,MED23 | 2 |
chr6:131929091 | p.L329L,MED23 | 2 |
chr6:131911508 | p.V1234V,MED23 | 1 |
chr6:131924232 | p.Y951Y,MED23 | 1 |
chr6:131940974 | p.R611R,MED23 | 1 |
chr6:131914253 | p.N440N,MED23 | 1 |
chr6:131926513 | p.A163A,MED23 | 1 |
chr6:131944588 | p.T1208M,MED23 | 1 |
chr6:131917670 | p.A938V,MED23 | 1 |
Other DBs for Point Mutations |
Copy Number for MED23 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 MED23 |
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 |
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 |
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-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 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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