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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22055

FusionGeneSummary for MITF_FOXP1

check button Fusion gene summary
Fusion gene informationFusion gene name: MITF_FOXP1
Fusion gene ID: 22055
HgeneTgene
Gene symbol

MITF

FOXP1

Gene ID

4286

27086

Gene namemelanogenesis associated transcription factorforkhead box P1
SynonymsCMM8|COMMAD|MI|WS2|WS2A|bHLHe3212CC4|HSPC215|MFH|QRF1|hFKH1B
Cytomap

3p13

3p13

Type of geneprotein-codingprotein-coding
Descriptionmicrophthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factorforkhead box protein P1fork head-related protein like Bglutamine-rich factor 1mac-1-regulated forkhead
Modification date2018052720180522
UniProtAcc

O75030

Q9H334

Ensembl transtripts involved in fusion geneENST00000352241, ENST00000448226, 
ENST00000472437, ENST00000328528, 
ENST00000314589, ENST00000394355, 
ENST00000314557, ENST00000394351, 
ENST00000531774, ENST00000394348, 
ENST00000318789, ENST00000475937, 
ENST00000493089, ENST00000484350, 
ENST00000318779, ENST00000491238, 
ENST00000498215, ENST00000468577, 
ENST00000472382, 
Fusion gene scores* DoF score7 X 3 X 3=6337 X 16 X 17=10064
# samples 540
** MAII scorelog2(5/63*10)=-0.333423733725192
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(40/10064*10)=-4.65306001710456
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MITF [Title/Abstract] AND FOXP1 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneMITF

GO:0010628

positive regulation of gene expression

22234890

HgeneMITF

GO:0045893

positive regulation of transcription, DNA-templated

9647758

HgeneMITF

GO:0045944

positive regulation of transcription by RNA polymerase II

20530484|21209915

HgeneMITF

GO:0065003

protein-containing complex assembly

20530484

HgeneMITF

GO:2000144

positive regulation of DNA-templated transcription, initiation

8995290|12204775

HgeneMITF

GO:2001141

regulation of RNA biosynthetic process

16411896

TgeneFOXP1

GO:0002903

negative regulation of B cell apoptotic process

25267198

TgeneFOXP1

GO:0030316

osteoclast differentiation

18799727

TgeneFOXP1

GO:0032496

response to lipopolysaccharide

18799727

TgeneFOXP1

GO:0032680

regulation of tumor necrosis factor production

18799727

TgeneFOXP1

GO:0035926

chemokine (C-C motif) ligand 2 secretion

18799727

TgeneFOXP1

GO:0036035

osteoclast development

18799727

TgeneFOXP1

GO:0042116

macrophage activation

18799727

TgeneFOXP1

GO:0042117

monocyte activation

18799727

TgeneFOXP1

GO:0045655

regulation of monocyte differentiation

15286807

TgeneFOXP1

GO:0045892

negative regulation of transcription, DNA-templated

20950788

TgeneFOXP1

GO:0050706

regulation of interleukin-1 beta secretion

18799727

TgeneFOXP1

GO:0050727

regulation of inflammatory response

18799727

TgeneFOXP1

GO:0060766

negative regulation of androgen receptor signaling pathway

18640093

TgeneFOXP1

GO:1900424

regulation of defense response to bacterium

18799727

TgeneFOXP1

GO:1901256

regulation of macrophage colony-stimulating factor production

18799727

TgeneFOXP1

GO:2001182

regulation of interleukin-12 secretion

18799727


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVSKCMTCGA-D3-A2JG-06AMITFchr3

70017484

+FOXP1chr3

71007472

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000352241ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-3UTRENST00000352241ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000352241ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000448226ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000448226ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000448226ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000472437ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000472437ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000472437ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-3UTRENST00000328528ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-3UTRENST00000328528ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000328528ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000314589ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000314589ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314589ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-3UTRENST00000394355ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-3UTRENST00000394355ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
5CDS-intronENST00000394355ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000314557ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000314557ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000314557ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000394351ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000394351ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394351ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000531774ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000531774ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000531774ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000394348ENST00000318789MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-3UTRENST00000394348ENST00000475937MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000493089MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000484350MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000318779MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000491238MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000498215MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000468577MITFchr3

70017484

+FOXP1chr3

71007472

-
intron-intronENST00000394348ENST00000472382MITFchr3

70017484

+FOXP1chr3

71007472

-

Top

FusionProtFeatures for MITF_FOXP1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MITF

O75030

FOXP1

Q9H334


check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

.

* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MITF_FOXP1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MITF_FOXP1


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page

.

check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
MITFLEF1, PIAS3, PATZ1, UBE2I, TFE3, FOS, SPI1, PAX6, TFEC, SUMO1, PIAS1, PIAS2, PSMD14, MARK3, CDK2, ELAVL1, HINT1, APP, EPAS1, STUB1, HK3, EBP, EP300, XPO1, TFEB, RBM6, KLHL20, TRIM25FOXP1CTBP1, FOXP1, FOXP2, FOXP4, GATAD2B, MTA1, NCOR2, ELAVL1, MYC, IL3RA, CCDC183, UNK, RCC1, HOXD13, QSER1, SATB1, SATB2, CTBP2, MYH10, LIG3, C10orf2, CUX1, VRK3, XRCC1, CHD1L, RPA2, BLM, MRE11A, MYL12B, TBP, TP53, TTF2, ZBTB10, MYL9, RPA3, TFCP2, TOP2A, UBP1, FOXP3, AURKA, SNRNP70


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

RelatedDrugs for MITF_FOXP1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MITF_FOXP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMITFC3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 82CTD_human;ORPHANET;UNIPROT
HgeneMITFC0007134Renal Cell Carcinoma1CTD_human
HgeneMITFC0007621Neoplastic Cell Transformation1CTD_human
HgeneMITFC0011053Deafness1CTD_human
HgeneMITFC0025202melanoma1CTD_human;HPO
HgeneMITFC0078918Albinism, Oculocutaneous1CTD_human
HgeneMITFC0151779Cutaneous Melanoma1CTD_human
HgeneMITFC0391816Tietz syndrome1CTD_human;ORPHANET;UNIPROT
HgeneMITFC0549567Pigmentation Disorders1CTD_human
HgeneMITFC1860339WAARDENBURG SYNDROME, TYPE IIA1CTD_human;UNIPROT
HgeneMITFC2700265Waardenburg Syndrome Type 21CTD_human;ORPHANET
TgeneFOXP1C0024232Lymphatic Metastasis1CTD_human
TgeneFOXP1C0027626Neoplasm Invasiveness1CTD_human
TgeneFOXP1C0030297Pancreatic Neoplasm1CTD_human
TgeneFOXP1C0042900Vitiligo1CTD_human
TgeneFOXP1C0279628Adenocarcinoma Of Esophagus1CTD_human
TgeneFOXP1C1510586Autism Spectrum Disorders1CTD_human
TgeneFOXP1C3495559Juvenile arthritis1CTD_human
TgeneFOXP1C4013764MENTAL RETARDATION WITH LANGUAGE IMPAIRMENT AND WITH OR WITHOUT AUTISTIC FEATURES1CTD_human;ORPHANET;UNIPROT