TissGeneSummary for MITF |
Gene summary |
Basic gene information | Gene symbol | MITF |
Gene name | microphthalmia-associated transcription factor | |
Synonyms | CMM8|MI|WS2|WS2A|bHLHe32 | |
Cytomap | UCSC genome browser: 3p14.2-p14.1 | |
Type of gene | protein-coding | |
RefGenes | NM_000248.3, NM_001184967.1,NM_001184968.1,NM_006722.2,NM_198158.2, NM_198159.2,NM_198177.2,NM_198178.2, | |
Description | class E basic helix-loop-helix protein 32 | |
Modification date | 20141222 | |
dbXrefs | MIM : 156845 | |
HGNC : HGNC | ||
Ensembl : ENSG00000187098 | ||
HPRD : 01138 | ||
Vega : OTTHUMG00000149921 | ||
Protein | UniProt: go to UniProt's Cross Reference DB Table | |
Expression | CleanEX: HS_MITF | |
BioGPS: 4286 | ||
Pathway | NCI Pathway Interaction Database: MITF | |
KEGG: MITF | ||
REACTOME: MITF | ||
Pathway Commons: MITF | ||
Context | iHOP: MITF | |
ligand binding site mutation search in PubMed: MITF | ||
UCL Cancer Institute: MITF | ||
Assigned class in TissGDB* | C | |
Included tissue-specific gene expression resources | TiGER,GTEx | |
Specific-tissues in normal samples (assigned by TissGDB using HPA, TiGER, and GTEx) | SkinUterus | |
Cancer types related to the specific-tissues in cancer samples (assigned by TissGDB using TCGA) | SKCMUCEC,UCS | |
Reference showing the relevant tissue of MITF | ||
Description by TissGene annotations | Cancer gene Have significant anti-correlated miRNA |
* Class A consists of genes with literature evidence and is part of the cTissGenes. Class B consists of only cTissGenes without additional evidence. The remaining genes belong to Class C. |
Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
GO ID | GO term | PubMed ID | GO:0006461 | protein complex assembly | 20530484 | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 20530484 | GO:0006461 | protein complex assembly | 20530484 | GO:0045893 | positive regulation of transcription, DNA-templated | 9647758 | GO:0045944 | positive regulation of transcription from RNA polymerase II promoter | 20530484 |
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TissGeneExp for MITF |
Gene expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
Gene isoform expressions across 28 cancer types (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA pan-cancer tcga_rsem_isoform_tpm, version 2016-09-01) |
Gene expressions across normal tissues of GTEx data (GTEx GTEx_Analysis_v6_RNA-seq_RNA-SeQCv1.1.8_gene_rpkm.gct) - Here, we shows the matched tissue types only among our 28 cancer types. |
Different expressions across 14 cancer types with more than 10 samples between matched tumors and normals (X-axis: cancer type and Y-axis: log2(norm_counts+1)) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) |
- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05) |
Cancer type | Mean(exp) in tumor | Mean(exp) in matched normal | Log2FC | P-val. | FDR |
BRCA | 1.423985346 | 2.431259907 | -1.007274561 | 3.59E-15 | 1.88E-14 |
LUSC | 0.581618989 | 2.628275852 | -2.046656863 | 1.65E-17 | 1.39E-16 |
HNSC | -0.13452465 | 1.372282327 | -1.506806977 | 1.98E-06 | 1.39E-05 |
LUAD | 1.484717772 | 2.667740186 | -1.183022414 | 1.44E-12 | 1.11E-11 |
ESCA | 0.757711502 | 3.028184229 | -2.270472727 | 0.000135 | 0.004057297 |
STAD | 1.121353548 | 2.227972298 | -1.10661875 | 0.000149 | 0.001095101 |
BLCA | 0.108866048 | 1.918566048 | -1.8097 | 3.75E-05 | 0.000514385 |
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TissGene-miRNA for MITF |
Significantly anti-correlated miRNAs of TissGene across 28 cancer types (Gene-miRNA relations from TargetScanHuman Relsease 7.1, Conserved_Site_Context_Scores.txt.zip, 06.01.2016) (TCGA IlluminaHiSeq_miRNASeq, log2(RPM+1) data, version 2016-11-21) (TCGA IlluminaHiSeq_RNASeqV2, log2(normalized_count+1) data, version 2016-08-16) (Spearman’s Rank Correlation (p-value<0.05 and coefficient<-0.25)) |
Cancer type | miRNA id | miRNA accession | P-val. | Coeff. | # samples |
UVM | hsa-miR-23a-3p | MIMAT0000078 | 0.022 | -0.26 | 80 |
UCS | hsa-miR-381-3p | MIMAT0000736 | 0.036 | -0.28 | 56 |
UCS | hsa-miR-655-3p | MIMAT0003331 | 0.033 | -0.29 | 56 |
UCS | hsa-miR-323a-3p | MIMAT0000755 | 0.016 | -0.33 | 56 |
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TissGeneMut for MITF |
TissGeneSNV for MITF |
nsSNV counts per each loci. Different colors of circles represent different cancer types. Circle size denotes number of samples. (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) * Click on the image to enlarge it in a new window. |
Somatic nucleotide variants of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of mutated samples) The numbers in parentheses are numbers of samples with mutation (nsSNVs). (TCGA somatic mutation (SNPs and small INDELs) data, version 2016-04-25) |
- nsSNVs sorted by frequency. |
AAchange | Cancer type | # samples |
p.C438F | UCEC | 1 |
p.A30V | READ | 1 |
p.F16L | UCEC | 1 |
p.K118* | KIRP | 1 |
p.L106R | SKCM | 1 |
p.V421I | HNSC | 1 |
p.S244F | COAD | 1 |
p.H433D | BLCA | 1 |
p.S219P | LIHC | 1 |
p.L63H | SKCM | 1 |
p.G165D | KIRC | 1 |
p.L4P | DLBC | 1 |
p.L398P | STAD | 1 |
p.K118X | KIRP | 1 |
p.R371L | OV | 1 |
p.Q163H | THYM | 1 |
p.L137F | SKCM | 1 |
p.A70T | COAD | 1 |
p.H9Y | HNSC | 1 |
p.R380Q | STAD | 1 |
p.R341L | THYM | 1 |
p.N424T | OV | 1 |
p.R298S | SKCM | 1 |
p.D443N | UCEC | 1 |
p.G488D | BLCA | 1 |
p.S278N | SKCM | 1 |
p.L244F | SKCM | 1 |
p.N190S | THCA | 1 |
p.D482G | PAAD | 1 |
p.K266N | COAD | 1 |
p.R73C | STAD | 1 |
p.Q94P | UCEC | 1 |
p.T110M | KIRC | 1 |
p.G165D | STAD | 1 |
p.F196C | DLBC | 1 |
p.N83S | THCA | 1 |
p.E4X | LIHC | 1 |
p.S504P | PAAD | 1 |
p.E314Q | BLCA | 1 |
p.S498P | PAAD | 1 |
p.D488G | PAAD | 1 |
p.V100I | UCEC | 1 |
p.D443N | SKCM | 1 |
p.N213D | STAD | 1 |
p.R56H | PAAD | 1 |
p.R364C | HNSC | 1 |
p.R191S | SKCM | 1 |
p.L11H | SKCM | 1 |
p.G393R | COAD | 1 |
p.R318S | STAD | 1 |
p.S49R | STAD | 1 |
p.N188T | LUAD | 1 |
p.Q268H | BLCA | 1 |
p.V172L | LUAD | 1 |
p.M245I | LUAD | 1 |
p.D491G | STAD | 1 |
p.D176Y | READ | 1 |
p.H167Y | PRAD | 1 |
p.A38T | COAD | 1 |
p.P178L | STAD | 1 |
p.T79M | READ | 1 |
p.G500R | HNSC | 1 |
p.D375N | COAD | 1 |
p.L261F | BLCA | 1 |
p.G266E | BLCA | 1 |
p.N162S | HNSC | 1 |
p.E514* | UCEC | 1 |
p.M138L | COAD | 1 |
p.L54R | SKCM | 1 |
p.L484F | SKCM | 1 |
p.N81T | READ | 1 |
p.Q154H | STAD | 1 |
p.G345R | HNSC | 1 |
p.F85C | BLCA | 1 |
p.R360Q | STAD | 1 |
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TissGeneCNV for MITF |
Copy number variations of TissGene across 28 cancer types (X-axis: cancer type and Y-axis: % of CNV samples) (TCGA Gistic2_CopyNumber_Gistic2_all_data_by_genes, Gistic2 copy number data, version 2016-08-16) |
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TissGeneFusions for MITF |
Fusion genes including TissGene (ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01) |
Database | Src | Cancer type | Sample | Fusion gene | ORF | 5'-gene BP | 3'-gene BP |
Chimerdb3.0 | FusionScan | THYM | TCGA-ZB-A969-01A | MAGI1-MITF | Out-of-Frame | chr3:66023670 | chr3:69998201 |
Chimerdb3.0 | FusionScan | ESCA | TCGA-L5-A4OF-01A | MITF-CEP57 | In-Frame | chr3:69928534 | chr11:95532395 |
Chimerdb3.0 | TopHat-Fusion | BRCA | TCGA-EW-A1PC-01B | MITF-PTDSS1 | Out-of-Frame | chr3:69900940 | chr8:97274446 |
TCGAfusionPortal | PRADA | BRCA | TCGA-EW-A1PC-01B | MITF-MTERFD1 | CDS-5UTR | Chr3:69788852 | Chr8:97270928 |
TCGAfusionPortal | PRADA | HNSC | TCGA-CV-5432-01A | CGGBP1-MITF | 5UTR-CDS | Chr3:88190120 | Chr3:69998202 |
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TissGeneNet for MITF |
Co-expressed gene networks based on protein-protein interaction data (CePIN) (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (PINA2 ppi data) |
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TissGeneProg for MITF |
Kaplan-Meier plots with logrank tests of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image to enlarge it in a new window. |
Kaplan-Meier plots with logrank test of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of overall survival (OS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
Forest plot of Cox proportional hazard ratio (HR) and 95% CI of relapse free survival (RFS) using 28 cancer types (TCGA IlluminaHiSeq_RNASeqV2, pan-cancer normalized log2(norm_counts+1) data, version 2016-08-16) (TCGA clinicalMatrix, phenotype data, version 2016-04-27) * Click on the image enlarge it in a new window. |
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TissGeneClin for MITF |
TissGeneDrug for MITF |
Drug information targeting TissGene (DrugBank Version 5.0.6, 2017-04-01) |
DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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TissGeneDisease for MITF |
Disease information associated with TissGene (DisGeNet, 2016-06-01) |
Disease ID | Disease name | # pubmeds | Source |
umls:C0025202 | melanoma | 128 | BeFree,GAD,LHGDN |
umls:C3266898 | Waardenburg Syndrome | 22 | BeFree,LHGDN |
umls:C2700265 | Waardenburg Syndrome Type 2 | 19 | BeFree,CTD_human,ORPHANET |
umls:C1860339 | WAARDENBURG SYNDROME, TYPE IIA | 17 | BeFree,CLINVAR,CTD_human,MGD,UNIPROT |
umls:C0026010 | Microphthalmos | 12 | BeFree |
umls:C0206651 | Sarcoma, Clear Cell | 9 | BeFree |
umls:C0027627 | Neoplasm Metastasis | 7 | BeFree,GAD |
umls:C0391816 | Tietz syndrome | 5 | BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT |
umls:C0007134 | Renal Cell Carcinoma | 4 | BeFree,CTD_human |
umls:C0155552 | Hearing Loss, Mixed Conductive-Sensorineural | 4 | BeFree |
umls:C0162835 | Hypopigmentation disorder | 4 | BeFree |
umls:C0278883 | Metastatic melanoma | 4 | BeFree |
umls:C0740457 | Malignant neoplasm of kidney | 4 | BeFree |
umls:C1378703 | Renal carcinoma | 4 | BeFree |
umls:C0042900 | Vitiligo | 3 | BeFree |
umls:C0596263 | Carcinogenesis | 3 | BeFree |
umls:C1847835 | VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding) | 3 | BeFree |
umls:C1876214 | ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT | 3 | BeFree |
umls:C0019569 | Hirschsprung Disease | 2 | BeFree |
umls:C0027962 | Melanocytic nevus | 2 | BeFree |
umls:C0037286 | Skin Neoplasms | 2 | GAD |
umls:C0151779 | Cutaneous Melanoma | 2 | BeFree,CTD_human |
umls:C0206633 | Angiomyolipoma | 2 | BeFree |
umls:C0235974 | Pancreatic carcinoma | 2 | BeFree |
umls:C0346647 | Malignant neoplasm of pancreas | 2 | BeFree |
umls:C0549567 | Pigmentation Disorders | 2 | BeFree,CTD_human |
umls:C2931876 | Hirschsprung disease 1 | 2 | BeFree |
umls:C0001916 | Albinism | 1 | BeFree |
umls:C0003873 | Rheumatoid Arthritis | 1 | LHGDN |
umls:C0007102 | Malignant tumor of colon | 1 | BeFree |
umls:C0007621 | Neoplastic Cell Transformation | 1 | CTD_human |
umls:C0011053 | Deafness | 1 | CTD_human |
umls:C0017638 | Glioma | 1 | BeFree |
umls:C0018784 | Sensorineural Hearing Loss (disorder) | 1 | BeFree |
umls:C0021051 | Immunologic Deficiency Syndromes | 1 | BeFree |
umls:C0024305 | Lymphoma, Non-Hodgkin | 1 | GAD |
umls:C0024899 | Mastocytosis | 1 | BeFree |
umls:C0027765 | nervous system disorder | 1 | BeFree |
umls:C0027960 | Nevus | 1 | BeFree |
umls:C0035309 | Retinal Diseases | 1 | GAD |
umls:C0040336 | Tobacco Use Disorder | 1 | GAD |
umls:C0042111 | Urticaria Pigmentosa | 1 | BeFree |
umls:C0078918 | Albinism, Oculocutaneous | 1 | CTD_human |
umls:C0079218 | Fibromatosis, Aggressive | 1 | BeFree |
umls:C0079588 | Ichthyosis, X-Linked | 1 | BeFree |
umls:C0178874 | Tumor Progression | 1 | BeFree |
umls:C0206138 | CREST Syndrome | 1 | BeFree |
umls:C0206735 | Melanoma, Amelanotic | 1 | BeFree |
umls:C0220633 | Uveal melanoma | 1 | BeFree |
umls:C0221013 | Mastocytosis, Systemic | 1 | BeFree |
umls:C0432072 | Dysmorphic features | 1 | BeFree |
umls:C0686619 | Secondary malignant neoplasm of lymph node | 1 | BeFree |
umls:C0699790 | Colon Carcinoma | 1 | BeFree |
umls:C1261473 | Sarcoma | 1 | BeFree |
umls:C1266127 | Histiocytoma, Angiomatoid Fibrous | 1 | BeFree |
umls:C1300127 | Perivascular Epithelioid Cell Neoplasms | 1 | BeFree |
umls:C1456781 | Benign melanocytic nevus | 1 | BeFree |
umls:C1561643 | Chronic Kidney Diseases | 1 | BeFree |
umls:C1567741 | Alport Syndrome | 1 | BeFree |
umls:C1848519 | WAARDENBURG SYNDROME, TYPE 4A | 1 | BeFree |
umls:C1956346 | Coronary Artery Disease | 1 | BeFree |
umls:C3152204 | MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8 | 1 | CLINVAR,CTD_human,ORPHANET,UNIPROT |
umls:C0011989 | Camurati-Engelmann Syndrome | 0 | MGD |
umls:C0027672 | Neoplastic Syndromes, Hereditary | 0 | CLINVAR |
umls:C1306837 | Papillary Renal Cell Carcinoma | 0 | ORPHANET |
umls:C1845069 | ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder) | 0 | CTD_human |
umls:C1847800 | Waardenburg Syndrome Type 1 | 0 | MGD |
umls:C1863198 | ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder) | 0 | MGD,ORPHANET |