Cancer CRCdb

TF information

TF name:	MITF
TF family:	bHLH
Ensembl gene ID:	ENSG00000187098
Ensembl protein ID:	ENSP00000418845, ENSP00000295600, ENSP00000494105, ENSP00000377880, ENSP00000435909, ENSP00000324443, ENSP00000391803, ENSP00000327867, ENSP00000398639, ENSP00000324246
Entrez gene ID:	4286

Database name	Link	Database name	Link
NCBI Gene:		Genecards:
Uniprot:		Wikipedia:
Cosmic 3D:		Geneontology:
CCLE:

Frequency of MITF in all biosamples

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Sample ID	Biosample type	Tissue type	Biosample name	TF Frequency
Sample_02_181	Cell line	Human melanoma	COLO679	0.053333333333333
Sample_02_183	Cell line	Skin	SKMEL2	0.076923076923077
Sample_02_184	Cell line	Skin	SKMEL30	0.09967845659164

MITF distribution in samples’ most representative CRC

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Sample ID	Tissue type	Biosample type	Biosample name

MITF distribution in all CRCs

Genomic distribution of SEs associated with MITF

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Mutation of MITF

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Database name	Link
gnomAD:	gnomAD
ExAC:	ExAC
ICGC:

Database name	Link
Cosmic:
Cosmic cell lines:
Depmap:

TCGA somatic mutations and clinical variants of MITF

rsID	Chr	Start	Stop	Ref	Alt	Gene_region	Gene_symble	Effect	TCGA_Occurrence
-	chr3	69915468	69915468	C	T	exonic	MITF	synonymous	BLCA\|1\|396\|0.00253
-	chr3	69928327	69928327	C	T	exonic	MITF	synonymous	OV\|1\|469\|0.00213
-	chr3	69928280	69928280	C	T	intronic	MITF	unknown	HNSC\|1\|512\|0.00195
-	chr3	69986996	69986996	C	T	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
rs36118030	chr3	70014384	70014384	G	A	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69915452	69915452	T	C	exonic	MITF	nonsynonymous	DLBC\|1\|48\|0.02083
-	chr3	69928368	69928368	T	A	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272
rs531830542	chr3	70014334	70014334	G	A	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204,HNSC\|1\|512\|0.00195
-	chr3	70000994	70000994	A	C	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr3	69986996	69986997	CA	-	exonic	MITF	frameshift	SKCM\|1\|368\|0.00272
-	chr3	69928493	69928493	A	C	exonic	MITF	nonsynonymous	BRCA\|1\|982\|0.00102
-	chr3	70008425	70008425	G	T	exonic	MITF	nonsynonymous	COADREAD\|1\|489\|0.00204,READ\|1\|122\|0.00820
-	chr3	69928297	69928297	G	A	exonic	MITF	synonymous	UCEC\|1\|248\|0.00403
rs77588960	chr3	69985838	69985838	G	A	UTR5	MITF	unknown	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69987132	69987132	G	T	exonic	MITF	nonsynonymous	LUAD\|1\|543\|0.00184
-	chr3	69998213	69998213	G	A	exonic	MITF	synonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69928497	69928497	T	G	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272
rs190215588	chr3	69928509	69928509	C	T	exonic	MITF	nonsynonymous	KIPAN\|2\|799\|0.00250,KIRC\|2\|451\|0.00443
rs567805824	chr3	69915453	69915453	T	C	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69928397	69928397	C	T	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69988260	69988260	-	T	exonic	MITF	frameshift	KIPAN\|1\|799\|0.00125,KIRP\|1\|282\|0.00355
-	chr3	70014328	70014328	T	C	exonic	MITF	nonsynonymous	PAAD\|1\|185\|0.00541
rs199697494	chr3	69928321	69928321	G	A	exonic	MITF	synonymous	DLBC\|1\|48\|0.02083
-	chr3	70014286	70014286	C	T	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr3	69928461	69928461	A	C	exonic	MITF	nonsynonymous	UCEC\|1\|248\|0.00403
-	chr3	70014106	70014106	A	G	exonic	MITF	nonsynonymous	COAD\|3\|367\|0.00817,COADREAD\|3\|489\|0.00613
-	chr3	69987103	69987103	A	G	exonic	MITF	nonsynonymous	HNSC\|1\|512\|0.00195
-	chr3	70008522	70008522	G	T	exonic	MITF	nonsynonymous	COAD\|2\|367\|0.00545,COADREAD\|2\|489\|0.00409,OV\|1\|469\|0.00213
rs748492606	chr3	69988303	69988303	A	G	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	70014048	70014048	G	C	exonic	MITF	synonymous	SKCM\|1\|368\|0.00272
-	chr3	70014033	70014033	C	T	exonic	MITF	synonymous	SKCM\|2\|368\|0.00543
-	chr3	69813040	69813040	C	A	exonic	MITF	nonsynonymous	UCEC\|1\|248\|0.00403
rs775320252	chr3	70008549	70008549	G	A	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69928332	69928332	C	T	exonic	MITF	nonsynonymous	BRCA\|1\|982\|0.00102
-	chr3	69987080	69987080	A	C	exonic	MITF	nonsynonymous	STAD\|2\|395\|0.00506,STES\|2\|395\|0.00506
-	chr3	70014107	70014107	A	C	exonic	MITF	nonsynonymous	OV\|1\|469\|0.00213
-	chr3	69928357	69928357	A	G	exonic	MITF	synonymous	UCEC\|1\|248\|0.00403
-	chr3	69985877	69985877	C	T	exonic	MITF	synonymous	PAAD\|1\|185\|0.00541
rs199805128	chr3	69990401	69990401	C	T	exonic	MITF	synonymous	PAAD\|1\|185\|0.00541
-	chr3	69788758	69788758	G	T	exonic	MITF	stopgain	LIHC\|1\|373\|0.00268
rs747981893	chr3	70014133	70014133	C	G	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
rs761127025	chr3	70014333	70014333	C	T	exonic	MITF	synonymous	UCEC\|1\|248\|0.00403
-	chr3	70005628	70005628	C	T	exonic	MITF	synonymous	UCEC\|1\|248\|0.00403
-	chr3	69990419	69990419	A	G	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
-	chr3	69987093	69987093	C	T	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
rs748181332	chr3	70008541	70008541	C	T	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
rs757354709	chr3	70014097	70014097	G	A	exonic	MITF	nonsynonymous	HNSC\|1\|512\|0.00195
rs748817904	chr3	70014297	70014297	C	T	exonic	MITF	synonymous	ESCA\|1\|185\|0.00541
-	chr3	70014321	70014321	C	T	exonic	MITF	synonymous	HNSC\|1\|512\|0.00195
-	chr3	70008462	70008462	C	T	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	70005608	70005608	G	C	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr3	69988260	69988260	G	C	exonic	MITF	nonsynonymous	COADREAD\|1\|489\|0.00204,READ\|1\|122\|0.00820
-	chr3	70014299	70014299	G	A	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
rs753927745	chr3	70014280	70014280	G	A	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	70014376	70014376	G	T	exonic	MITF	stopgain	UCEC\|1\|248\|0.00403
-	chr3	70008496	70008496	G	A	exonic	MITF	synonymous	LUSC\|1\|178\|0.00562
-	chr3	69813025	69813025	C	T	exonic	MITF	synonymous	LIHC\|1\|373\|0.00268
-	chr3	70008478	70008478	A	G	exonic	MITF	synonymous	LIHC\|1\|373\|0.00268
-	chr3	69988253	69988253	T	G	exonic	MITF	nonsynonymous	DLBC\|1\|48\|0.02083
-	chr3	70008521	70008521	C	A	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69998236	69998236	G	A	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr3	69928532	69928532	A	T	exonic	MITF	stopgain	KIPAN\|1\|799\|0.00125,KIRP\|1\|282\|0.00355
-	chr3	70014029	70014029	T	C	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69987151	69987151	C	T	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69990455	69990455	G	T	exonic	MITF	nonsynonymous	LUAD\|1\|543\|0.00184
-	chr3	69915496	69915496	C	T	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
rs760057624	chr3	70014149	70014149	G	T	exonic	MITF	nonsynonymous	UCEC\|1\|248\|0.00403
-	chr3	69990453	69990453	A	T	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69928292	69928292	G	A	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	70014281	70014281	A	G	exonic	MITF	nonsynonymous	PAAD\|1\|185\|0.00541
-	chr3	69928347	69928347	G	A	exonic	MITF	nonsynonymous	PAAD\|1\|185\|0.00541
-	chr3	69788686	69788686	C	A	UTR5	MITF	unknown	ESCA\|1\|185\|0.00541
-	chr3	69928478	69928478	G	A	exonic	MITF	nonsynonymous	UCEC\|1\|248\|0.00403
-	chr3	70005622	70005622	A	C	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	70008529	70008529	G	T	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69988315	69988315	C	T	exonic	MITF	stopgain	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69987140	69987140	G	T	exonic	MITF	synonymous	ESCA\|1\|185\|0.00541
rs576634776	chr3	70008502	70008502	C	T	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69987112	69987112	G	A	exonic	MITF	nonsynonymous	KIPAN\|1\|799\|0.00125,KIRC\|1\|451\|0.00222,STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	70014210	70014210	G	C	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
rs372113245	chr3	70008500	70008500	C	T	exonic	MITF	nonsynonymous	HNSC\|1\|512\|0.00195
rs868519483	chr3	70014163	70014163	G	A	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272,UCEC\|1\|248\|0.00403
-	chr3	70008443	70008443	G	A	exonic	MITF	nonsynonymous	HNSC\|1\|512\|0.00195
-	chr3	70014173	70014180	ATGGCACC	-	exonic	MITF	frameshift	OV\|1\|469\|0.00213
-	chr3	70014048	70014048	G	T	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
rs774944729	chr3	70014171	70014171	G	A	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69928327	69928327	C	A	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	69928434	69928434	T	G	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr3	70014356	70014356	G	A	exonic	MITF	nonsynonymous	COADREAD\|1\|489\|0.00204,READ\|1\|122\|0.00820
rs749431926	chr3	69928453	69928453	C	T	exonic	MITF	synonymous	UCEC\|1\|248\|0.00403
-	chr3	70008523	70008523	A	G	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
rs760770591	chr3	69987147	69987147	G	A	exonic	MITF	nonsynonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204
-	chr3	69788713	69788713	C	T	UTR5	MITF	unknown	ESCA\|1\|185\|0.00541
-	chr3	70014315	70014315	C	T	exonic	MITF	synonymous	SKCM\|1\|368\|0.00272
-	chr3	69987131	69987131	G	T	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
-	chr3	69998222	69998222	G	C	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
-	chr3	69987181	69987181	A	C	exonic	MITF	nonsynonymous	COADREAD\|1\|489\|0.00204,LUAD\|1\|543\|0.00184,READ\|1\|122\|0.00820
rs756305763	chr3	70014279	70014279	C	T	exonic	MITF	synonymous	BLCA\|1\|396\|0.00253
-	chr3	69987187	69987187	A	G	exonic	MITF	nonsynonymous	THCA\|1\|504\|0.00198
-	chr3	69990452	69990452	G	C	exonic	MITF	nonsynonymous	SKCM\|1\|368\|0.00272
-	chr3	69987117	69987117	C	T	exonic	MITF	nonsynonymous	PRAD\|1\|499\|0.00200
rs762920442	chr3	70008489	70008489	G	A	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
-	chr3	70014355	70014355	C	A	exonic	MITF	synonymous	LUAD\|1\|543\|0.00184
-	chr3	70014107	70014107	A	G	exonic	MITF	nonsynonymous	COADREAD\|1\|489\|0.00204,READ\|1\|122\|0.00820
rs200583343	chr3	69987024	69987024	C	T	exonic	MITF	nonsynonymous	BRCA\|1\|982\|0.00102
-	chr3	70014308	70014308	A	G	exonic	MITF	nonsynonymous	STAD\|1\|395\|0.00253,STES\|1\|395\|0.00253
rs567842156	chr3	69998243	69998243	A	T	exonic	MITF	nonsynonymous	BLCA\|1\|396\|0.00253
rs373819498	chr3	69986987	69986987	C	T	exonic	MITF	synonymous	COAD\|1\|367\|0.00272,COADREAD\|1\|489\|0.00204

Disease information of MITF

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TF_name	Disease_name	Disease_class	Disease_semantic_type	TF_disease_source
MITF	Malignant Neoplasms	C04	Neoplastic Process	CGI
MITF	Renal Cell Carcinoma	C04;C12;C13	Neoplastic Process	CTD_human
MITF	Neoplastic Cell Transformation	C04;C23	Neoplastic Process	CTD_human
MITF	Prelingual Deafness	C09;C10;C23	Disease or Syndrome	CTD_human
MITF	Deafness	C09;C10;C23	Finding	CTD_human
MITF	Incontinentia Pigmenti Achromians	C17;C23	Congenital Abnormality	CTD_human
MITF	melanoma	C04	Neoplastic Process	CGI;CTD_human
MITF	Schamberg Disease	C17;C23	Disease or Syndrome	CTD_human
MITF	Albinism, Ocular	C11;C16;C17;C18	Congenital Abnormality	GENOMICS_ENGLAND
MITF	Albinism, Oculocutaneous	C11;C16;C17;C18	Congenital Abnormality	CTD_human
MITF	Albinism, Tyrosinase-Negative	C11;C16;C17;C18	Congenital Abnormality	CTD_human
MITF	Albinism, Tyrosinase-Positive	C11;C16;C17;C18	Congenital Abnormality	CTD_human
MITF	Albinism, Yellow-Mutant	C11;C16;C17;C18	Finding	CTD_human
MITF	Hearing Loss, Extreme	C09;C10;C23	Sign or Symptom	CTD_human
MITF	Cutaneous Melanoma	C04;C17	Neoplastic Process	CGI;CTD_human
MITF	Benign neoplasm of adrenal gland		Neoplastic Process	CLINGEN
MITF	Benign neoplasm of aortic body and other paraganglia		Neoplastic Process	CLINGEN
MITF	Conventional (Clear Cell) Renal Cell Carcinoma	C04;C12;C13	Neoplastic Process	CTD_human
MITF	Malignant Adrenal Medulla Neoplasm		Neoplastic Process	CLINGEN
MITF	Tietz syndrome	C09;C10;C11;C16;C17;C18;C23	Disease or Syndrome	CTD_human;ORPHANET;UNIPROT
MITF	Malignant neoplasm of aortic body and other paraganglia		Neoplastic Process	CLINGEN
MITF	Pigmentation Disorders	C17;C23	Disease or Syndrome	CTD_human
MITF	Complete Hearing Loss	C09;C10;C23	Finding	CTD_human
MITF	Deafness, Acquired	C09;C10;C23	Disease or Syndrome	CTD_human
MITF	Chromophobe Renal Cell Carcinoma	C04;C12;C13	Neoplastic Process	CTD_human
MITF	Sarcomatoid Renal Cell Carcinoma	C04;C12;C13	Neoplastic Process	CTD_human
MITF	Collecting Duct Carcinoma of the Kidney	C04;C12;C13	Neoplastic Process	CTD_human
MITF	Papillary Renal Cell Carcinoma	C04;C12;C13	Neoplastic Process	CTD_human;ORPHANET
MITF	ALBINISM, OCULAR, WITH LATE-ONSET SENSORINEURAL DEAFNESS (disorder)	C09;C10;C11;C16;C17;C18;C23	Congenital Abnormality; Disease or Syndrome	CTD_human
MITF	WAARDENBURG SYNDROME, TYPE IIA	C16	Disease or Syndrome	CTD_human;UNIPROT
MITF	ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)		Disease or Syndrome	ORPHANET
MITF	Familial Atypical Mole Melanoma Syndrome		Neoplastic Process	ORPHANET
MITF	Waardenburg Syndrome Type 2	C16	Disease or Syndrome	CTD_human;ORPHANET
MITF	WAARDENBURG SYNDROME, TYPE IIE	C16	Disease or Syndrome	CTD_human
MITF	MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 8		Finding	CTD_human;ORPHANET;UNIPROT
MITF	Bilateral Deafness	C09;C10;C23	Finding	CTD_human
MITF	Deaf Mutism	C09;C10;C23	Disease or Syndrome	CTD_human
MITF	COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS		Disease or Syndrome	CTD_human;UNIPROT
MITF	Clear cell papillary renal cell carcinoma		Neoplastic Process	ORPHANET

Pathway associated with MITF

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pathway_ID	pathway_name	pathway_source	gene_number	edge_number
pathway0001131	IL6-mediated signaling events	pid	48	426
pathway0001799	RANKL	netpath	84	1002
pathway0001848	Regulation of nuclear beta catenin signaling and target gene transcription	pid	80	611
pathway0001857	Regulation of retinoblastoma protein	pid	67	718
pathway0002039	Signaling events mediated by Stem cell factor receptor (c-Kit)	pid	53	547
pathway0002044	Signaling mediated by p38-alpha and p38-beta	pid	35	174
pathway0002127	SUMOylation of transcription factors	reactome	14	57
pathway0002627	Melanogenesis	kegg	100	1225
pathway0002665	Melanoma	kegg	69	1192
pathway0002747	Hs_Neural_Crest_Differentiation_WP2064_79263	wikipathways	40	129
pathway0002829	Hs_Kit_receptor_signaling_pathway_WP304_78799	wikipathways	46	510
pathway0002874	Hs_RANKL-RANK_(Receptor_activator_of_NFKB_(ligand))_Signaling_Pathway_WP2018_90016	wikipathways	26	125

Go term information of MITF

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GO_term_name	GO_term_type	TF_name
GO_EPITHELIUM_DEVELOPMENT	BP	MITF
GO_REGULATION_OF_OSTEOCLAST_DIFFERENTIATION	BP	MITF
GO_POSITIVE_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION	BP	MITF
GO_PROTEIN_MODIFICATION_BY_SMALL_PROTEIN_CONJUGATION_OR_REMOVAL	BP	MITF
GO_PIGMENTATION	BP	MITF
GO_REGULATION_OF_DNA_TEMPLATED_TRANSCRIPTION_INITIATION	BP	MITF
GO_PROTEIN_SUMOYLATION	BP	MITF
GO_PIGMENT_CELL_DIFFERENTIATION	BP	MITF
GO_DEVELOPMENTAL_PIGMENTATION	BP	MITF
GO_NEUROEPITHELIAL_CELL_DIFFERENTIATION	BP	MITF
GO_MELANOCYTE_DIFFERENTIATION	BP	MITF

Survival analysis of MITF

Methods

Overall Survival

Disease Free Survival (RFS)

Group Cutoff

Median

Quartile

Custom

Cutoff-High(%)

Hazards Ratio (HR) Calculate the hazards ratio based on Cox PH Model.

95% Confidence Interval Add the 95% CI as dotted line.

Axis Units

Expression of MITF

Pan cancer (TCGA) Cell line (ENCODE) In vitro differentiated cell (ENCODE) Primary cell (ENCODE) Tissue (NCBI) Normal tissue (GTEx) Cell line (CCLE)