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Bioinformatics and Systems Medicine Laboratory Bioinformatics and Systems Medicine Laboratory

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TissGeneSummary

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TissGeneExp

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TissGene-miRNA

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TissGeneMut: TissGeneSNV, TissGeneCNV, and TissGeneFusions

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TissGeneNet

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TissGeneProg

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TissGeneClin: TissGeneDrug and TissGeneDisease

TissGeneSummary for MITF
check button Gene summary
Basic gene informationGene symbolMITF
Gene namemicrophthalmia-associated transcription factor
SynonymsCMM8|MI|WS2|WS2A|bHLHe32
CytomapUCSC genome browser: 3p14.2-p14.1
Type of geneprotein-coding
RefGenesNM_000248.3,
NM_001184967.1,NM_001184968.1,NM_006722.2,NM_198158.2,
NM_198159.2,NM_198177.2,NM_198178.2,
Descriptionclass E basic helix-loop-helix protein 32
Modification date20141222
dbXrefs MIM : 156845
HGNC : HGNC
Ensembl : ENSG00000187098
HPRD : 01138
Vega : OTTHUMG00000149921
ProteinUniProt:
go to UniProt's Cross Reference DB Table
ExpressionCleanEX: HS_MITF
BioGPS: 4286
PathwayNCI Pathway Interaction Database: MITF
KEGG: MITF
REACTOME: MITF
Pathway Commons: MITF
ContextiHOP: MITF
ligand binding site mutation search in PubMed: MITF
UCL Cancer Institute: MITF
Assigned class in TissGDB*C
Included tissue-specific gene expression resourcesTiGER,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 annotationsCancer 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.

check button Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez
GO IDGO termPubMed ID
GO:0006461protein complex assembly20530484
GO:0045893positive regulation of transcription, DNA-templated9647758
GO:0045944positive regulation of transcription from RNA polymerase II promoter20530484
GO:0006461protein complex assembly20530484
GO:0045893positive regulation of transcription, DNA-templated9647758
GO:0045944positive regulation of transcription from RNA polymerase II promoter20530484


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TissGeneExp for MITF

check button 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 exp


check button 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 isoform exp


check button 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.
normal gene exp


check button 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)
DEG exp

- Significantly differentially expressed cancer types and information. (|Fold change|>1 and FDR<0.05)
Cancer typeMean(exp) in tumorMean(exp) in matched normalLog2FCP-val.FDR
BRCA1.4239853462.431259907-1.0072745613.59E-151.88E-14
LUSC0.5816189892.628275852-2.0466568631.65E-171.39E-16
HNSC-0.134524651.372282327-1.5068069771.98E-061.39E-05
LUAD1.4847177722.667740186-1.1830224141.44E-121.11E-11
ESCA0.7577115023.028184229-2.2704727270.0001350.004057297
STAD1.1213535482.227972298-1.106618750.0001490.001095101
BLCA0.1088660481.918566048-1.80973.75E-050.000514385


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TissGene-miRNA for MITF

check button 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 typemiRNA idmiRNA accessionP-val.Coeff.# samples
UVMhsa-miR-23a-3pMIMAT00000780.022-0.2680
UCShsa-miR-381-3pMIMAT00007360.036-0.2856
UCShsa-miR-655-3pMIMAT00033310.033-0.2956
UCShsa-miR-323a-3pMIMAT00007550.016-0.3356


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TissGeneMut for MITF
TissGeneSNV for MITF

check button 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.
SNV lollipop
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check button 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)
SNV distribution

- nsSNVs sorted by frequency.
AAchangeCancer type# samples
p.C438FUCEC1
p.A30VREAD1
p.F16LUCEC1
p.K118*KIRP1
p.L106RSKCM1
p.V421IHNSC1
p.S244FCOAD1
p.H433DBLCA1
p.S219PLIHC1
p.L63HSKCM1
p.G165DKIRC1
p.L4PDLBC1
p.L398PSTAD1
p.K118XKIRP1
p.R371LOV1
p.Q163HTHYM1
p.L137FSKCM1
p.A70TCOAD1
p.H9YHNSC1
p.R380QSTAD1
p.R341LTHYM1
p.N424TOV1
p.R298SSKCM1
p.D443NUCEC1
p.G488DBLCA1
p.S278NSKCM1
p.L244FSKCM1
p.N190STHCA1
p.D482GPAAD1
p.K266NCOAD1
p.R73CSTAD1
p.Q94PUCEC1
p.T110MKIRC1
p.G165DSTAD1
p.F196CDLBC1
p.N83STHCA1
p.E4XLIHC1
p.S504PPAAD1
p.E314QBLCA1
p.S498PPAAD1
p.D488GPAAD1
p.V100IUCEC1
p.D443NSKCM1
p.N213DSTAD1
p.R56HPAAD1
p.R364CHNSC1
p.R191SSKCM1
p.L11HSKCM1
p.G393RCOAD1
p.R318SSTAD1
p.S49RSTAD1
p.N188TLUAD1
p.Q268HBLCA1
p.V172LLUAD1
p.M245ILUAD1
p.D491GSTAD1
p.D176YREAD1
p.H167YPRAD1
p.A38TCOAD1
p.P178LSTAD1
p.T79MREAD1
p.G500RHNSC1
p.D375NCOAD1
p.L261FBLCA1
p.G266EBLCA1
p.N162SHNSC1
p.E514*UCEC1
p.M138LCOAD1
p.L54RSKCM1
p.L484FSKCM1
p.N81TREAD1
p.Q154HSTAD1
p.G345RHNSC1
p.F85CBLCA1
p.R360QSTAD1


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TissGeneCNV for MITF

check button 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)
CNV


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TissGeneFusions for MITF

check button Fusion genes including TissGene
(ChimerDB 3.0, 2016-12-01 and TCGA fusion Portal 2015-12-01)
DatabaseSrcCancer typeSampleFusion geneORF5'-gene BP3'-gene BP
Chimerdb3.0FusionScanTHYMTCGA-ZB-A969-01AMAGI1-MITFOut-of-Framechr3:66023670chr3:69998201
Chimerdb3.0FusionScanESCATCGA-L5-A4OF-01AMITF-CEP57In-Framechr3:69928534chr11:95532395
Chimerdb3.0TopHat-FusionBRCATCGA-EW-A1PC-01BMITF-PTDSS1Out-of-Framechr3:69900940chr8:97274446
TCGAfusionPortalPRADABRCATCGA-EW-A1PC-01BMITF-MTERFD1CDS-5UTRChr3:69788852Chr8:97270928
TCGAfusionPortalPRADAHNSCTCGA-CV-5432-01ACGGBP1-MITF5UTR-CDSChr3:88190120Chr3:69998202


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TissGeneNet for MITF

check button 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)
BRCA (tumor)BRCA (normal)
MITF, ELAVL1, FOS, CTNNB1, SOX10, PAX3, GPR143, UBE2I, MAPK14, RPS6KA1, PIAS2, TFE3, PIAS3, LEF1, HK3, EBP, CTSK, BEST1, TFEC, TYRP1, PATZ1 (tumor)MITF, ELAVL1, SUMO2, FOS, MAPK1, CREB1, CTNNB1, PAX3, UBE2I, MAPK14, STUB1, EP300, SPI1, PIAS1, MLANA, LEF1, HK3, EBP, CTSK, BEST1, TFEC (normal)
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COAD (tumor)COAD (normal)
MITF, YWHAZ, SUMO2, TUBB3, CREB1, CTNNB1, SOX10, RPS6KA1, PIAS2, MET, PIAS1, TFE3, PIAS3, HINT1, LEF1, HOXB4, EBP, CTSK, BEST1, PATZ1, DCT (tumor)MITF, ELAVL1, CREB1, SUMO1, SOX10, BCL2, EP300, SPI1, PSMD14, PIAS1, TFE3, PIAS3, HINT1, LEF1, HOXB4, HK3, EBP, CTSK, BEST1, TFEC, TYRP1 (normal)
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HNSC (tumor)HNSC (normal)
MITF, ELAVL1, YWHAZ, SUMO2, TUBB3, PAX3, GPR143, UBE2I, MAPK14, BCL2, RPS6KA1, PIAS2, PAX6, MARK3, PIAS3, EBP, CTSK, BEST1, TYRP1, TFEB, PATZ1 (tumor)MITF, SUMO2, CTNNB1, SOX10, UBE2I, BCL2, STUB1, EP300, SPI1, PSMD14, PIAS2, MARK3, HINT1, LEF1, HOXB4, HK3, EBP, CTSK, BEST1, TFEC, PATZ1 (normal)
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KICH (tumor)KICH (normal)
MITF, ELAVL1, YWHAZ, SUMO2, MAPK1, CREB1, SUMO1, GSK3B, UBE2I, MAPK14, BCL2, EP300, PSMD14, PAX6, MET, HINT1, LEF1, HOXB4, HK3, CTSK, TFEC (tumor)MITF, SUMO2, TUBB3, CREB1, CTNNB1, GPR143, GSK3B, MAPK14, BCL2, SPI1, RPS6KA1, PSMD14, PIAS2, PAX6, MET, PIAS1, TFE3, PIAS3, HOXB4, HK3, EBP (normal)
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KIRC (tumor)KIRC (normal)
MITF, YWHAZ, CTNNB1, GSK3B, UBE2I, MAPK14, BCL2, STUB1, EP300, SPI1, PSMD14, PIAS2, PAX6, PIAS1, MARK3, TFE3, HINT1, HK3, BEST1, TYRP1, PATZ1 (tumor)MITF, SUMO2, MAPK1, CREB1, PAX3, GSK3B, UBE2I, MAPK14, BCL2, EP300, SPI1, PIAS2, MET, PIAS1, MARK3, TFE3, PIAS3, MLANA, HK3, CTSK, TFEB (normal)
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KIRP (tumor)KIRP (normal)
MITF, ELAVL1, TUBB3, FOS, CREB1, GSK3B, UBE2I, MAPK14, BCL2, STUB1, SPI1, PAX6, MET, MARK3, MLANA, HINT1, LEF1, EBP, BIRC7, TFEB, PATZ1 (tumor)MITF, SUMO2, TUBB3, MAPK1, CREB1, CTNNB1, PAX3, GPR143, GSK3B, BCL2, SPI1, PAX6, MET, MLANA, HINT1, LEF1, HK3, EBP, CTSK, TFEC, TYRP1 (normal)
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LIHC (tumor)LIHC (normal)
MITF, CREB1, SUMO1, SOX10, GPR143, GSK3B, BCL2, EP300, SPI1, RPS6KA1, PIAS1, TYR, PIAS3, LEF1, HOXB4, HK3, EBP, CTSK, BIRC7, BEST1, TFEC (tumor)MITF, YWHAZ, TUBB3, FOS, CREB1, GSK3B, BCL2, SPI1, RPS6KA1, MET, TFE3, PIAS3, HINT1, HOXB4, HK3, EBP, CTSK, BIRC7, BEST1, TFEC, TYRP1 (normal)
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LUAD (tumor)LUAD (normal)
MITF, ELAVL1, YWHAZ, MAPK1, CTNNB1, SPI1, RPS6KA1, PSMD14, PIAS2, PIAS1, TFE3, PIAS3, LEF1, HOXB4, HK3, BIRC7, BEST1, TFEC, TYRP1, TFEB, PATZ1 (tumor)MITF, ELAVL1, SUMO2, CREB1, SUMO1, BCL2, SPI1, RPS6KA1, PSMD14, MET, PIAS1, PIAS3, LEF1, HOXB4, HK3, CTSK, BIRC7, BEST1, TFEC, TYRP1, PATZ1 (normal)
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LUSC (tumor)LUSC (normal)
MITF, TUBB3, MAPK1, CREB1, GSK3B, UBE2I, MAPK14, STUB1, EP300, PSMD14, PIAS2, PAX6, MET, PIAS1, TYR, TFE3, HINT1, LEF1, BIRC7, TFEC, TFEB (tumor)MITF, ELAVL1, SUMO2, SUMO1, CTNNB1, SPI1, RPS6KA1, PSMD14, PAX6, MARK3, LEF1, HOXB4, HK3, EBP, CTSK, BIRC7, BEST1, TFEC, TYRP1, TFEB, PATZ1 (normal)
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PRAD (tumor)PRAD (normal)
MITF, MAPK1, SUMO1, SOX10, GPR143, MAPK14, SPI1, RPS6KA1, PAX6, MET, PIAS1, TFE3, OTX2, HINT1, HK3, EBP, CTSK, BEST1, TFEC, TYRP1, DCT (tumor)MITF, ELAVL1, TUBB3, FOS, MAPK1, CTNNB1, SOX10, UBE2I, BCL2, STUB1, SPI1, PSMD14, MET, PIAS1, TFE3, HINT1, LEF1, HOXB4, CTSK, BEST1, TFEC (normal)
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STAD (tumor)STAD (normal)
MITF, ELAVL1, YWHAZ, MAPK1, CREB1, SOX10, GPR143, MAPK14, BCL2, RPS6KA1, PIAS2, MET, TFE3, LEF1, HOXB4, EBP, CTSK, BEST1, TFEB, PATZ1, DCT (tumor)MITF, ELAVL1, YWHAZ, TUBB3, CREB1, CTNNB1, SOX10, BCL2, SPI1, RPS6KA1, PSMD14, PIAS1, PIAS3, MLANA, HOXB4, EBP, CTSK, BEST1, TFEC, TYRP1, DCT (normal)
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THCA (tumor)THCA (normal)
MITF, ELAVL1, SUMO2, MAPK1, CREB1, CTNNB1, GSK3B, UBE2I, MAPK14, BCL2, STUB1, EP300, RPS6KA1, PIAS2, MET, PIAS1, TFE3, HINT1, EBP, BIRC7, TFEB (tumor)MITF, SUMO2, MAPK1, CREB1, SUMO1, CTNNB1, GSK3B, UBE2I, MAPK14, STUB1, EP300, RPS6KA1, PIAS2, MET, PIAS1, MARK3, TFE3, PIAS3, HINT1, EBP, TFEB (normal)
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TissGeneProg for MITF

check button 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.
survival 1

check button 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.
survival 2

check button 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.
survival 3

check button 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.
survival 4

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TissGeneClin for MITF
TissGeneDrug for MITF

check button Drug information targeting TissGene
(DrugBank Version 5.0.6, 2017-04-01)
DrugBank IDDrug nameDrug activityDrug typeDrug status


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TissGeneDisease for MITF

check button Disease information associated with TissGene
(DisGeNet, 2016-06-01)
Disease IDDisease name# pubmedsSource
umls:C0025202melanoma128BeFree,GAD,LHGDN
umls:C3266898Waardenburg Syndrome22BeFree,LHGDN
umls:C2700265Waardenburg Syndrome Type 219BeFree,CTD_human,ORPHANET
umls:C1860339WAARDENBURG SYNDROME, TYPE IIA17BeFree,CLINVAR,CTD_human,MGD,UNIPROT
umls:C0026010Microphthalmos12BeFree
umls:C0206651Sarcoma, Clear Cell9BeFree
umls:C0027627Neoplasm Metastasis7BeFree,GAD
umls:C0391816Tietz syndrome5BeFree,CLINVAR,CTD_human,MGD,ORPHANET,UNIPROT
umls:C0007134Renal Cell Carcinoma4BeFree,CTD_human
umls:C0155552Hearing Loss, Mixed Conductive-Sensorineural4BeFree
umls:C0162835Hypopigmentation disorder4BeFree
umls:C0278883Metastatic melanoma4BeFree
umls:C0740457Malignant neoplasm of kidney4BeFree
umls:C1378703Renal carcinoma4BeFree
umls:C0042900Vitiligo3BeFree
umls:C0596263Carcinogenesis3BeFree
umls:C1847835VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (finding)3BeFree
umls:C1876214ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT3BeFree
umls:C0019569Hirschsprung Disease2BeFree
umls:C0027962Melanocytic nevus2BeFree
umls:C0037286Skin Neoplasms2GAD
umls:C0151779Cutaneous Melanoma2BeFree,CTD_human
umls:C0206633Angiomyolipoma2BeFree
umls:C0235974Pancreatic carcinoma2BeFree
umls:C0346647Malignant neoplasm of pancreas2BeFree
umls:C0549567Pigmentation Disorders2BeFree,CTD_human
umls:C2931876Hirschsprung disease 12BeFree
umls:C0001916Albinism1BeFree
umls:C0003873Rheumatoid Arthritis1LHGDN
umls:C0007102Malignant tumor of colon1BeFree
umls:C0007621Neoplastic Cell Transformation1CTD_human
umls:C0011053Deafness1CTD_human
umls:C0017638Glioma1BeFree
umls:C0018784Sensorineural Hearing Loss (disorder)1BeFree
umls:C0021051Immunologic Deficiency Syndromes1BeFree
umls:C0024305Lymphoma, Non-Hodgkin1GAD
umls:C0024899Mastocytosis1BeFree
umls:C0027765nervous system disorder1BeFree
umls:C0027960Nevus1BeFree
umls:C0035309Retinal Diseases1GAD
umls:C0040336Tobacco Use Disorder1GAD
umls:C0042111Urticaria Pigmentosa1BeFree
umls:C0078918Albinism, Oculocutaneous1CTD_human
umls:C0079218Fibromatosis, Aggressive1BeFree
umls:C0079588Ichthyosis, X-Linked1BeFree
umls:C0178874Tumor Progression1BeFree
umls:C0206138CREST Syndrome1BeFree
umls:C0206735Melanoma, Amelanotic1BeFree
umls:C0220633Uveal melanoma1BeFree
umls:C0221013Mastocytosis, Systemic1BeFree
umls:C0432072Dysmorphic features1BeFree
umls:C0686619Secondary malignant neoplasm of lymph node1BeFree
umls:C0699790Colon Carcinoma1BeFree
umls:C1261473Sarcoma1BeFree
umls:C1266127Histiocytoma, Angiomatoid Fibrous1BeFree
umls:C1300127Perivascular Epithelioid Cell Neoplasms1BeFree
umls:C1456781Benign melanocytic nevus1BeFree
umls:C1561643Chronic Kidney Diseases1BeFree
umls:C1567741Alport Syndrome1BeFree
umls:C1848519WAARDENBURG SYNDROME, TYPE 4A1BeFree
umls:C1956346Coronary Artery Disease1BeFree
umls:C3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 81CLINVAR,CTD_human,ORPHANET,UNIPROT
umls:C0011989Camurati-Engelmann Syndrome0MGD
umls:C0027672Neoplastic Syndromes, Hereditary0CLINVAR
umls:C1306837Papillary Renal Cell Carcinoma0ORPHANET
umls:C1845069ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)0CTD_human
umls:C1847800Waardenburg Syndrome Type 10MGD
umls:C1863198ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)0MGD,ORPHANET