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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: 22056

FusionGeneSummary for MITF_FRMD4B

check button Fusion gene summary
Fusion gene informationFusion gene name: MITF_FRMD4B
Fusion gene ID: 22056
HgeneTgene
Gene symbol

MITF

FRMD4B

Gene ID

4286

23150

Gene namemelanogenesis associated transcription factorFERM domain containing 4B
SynonymsCMM8|COMMAD|MI|WS2|WS2A|bHLHe326030440G05Rik|GRSP1
Cytomap

3p13

3p14.1

Type of geneprotein-codingprotein-coding
Descriptionmicrophthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factorFERM domain-containing protein 4BGRP1-binding protein GRSP1
Modification date2018052720180519
UniProtAcc

O75030

Q9Y2L6

Ensembl transtripts involved in fusion geneENST00000352241, ENST00000448226, 
ENST00000472437, ENST00000328528, 
ENST00000314589, ENST00000394355, 
ENST00000314557, ENST00000394351, 
ENST00000531774, ENST00000394348, 
ENST00000398540, ENST00000542259, 
ENST00000497757, ENST00000478263, 
Fusion gene scores* DoF score7 X 3 X 3=639 X 7 X 8=504
# samples 511
** MAII scorelog2(5/63*10)=-0.333423733725192
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/504*10)=-2.19592020997526
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MITF [Title/Abstract] AND FRMD4B [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


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
TCGALDSKCMTCGA-EB-A44Q-06AMITFchr3

69788852

+FRMD4Bchr3

69481912

-
* 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-intronENST00000352241ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-intronENST00000352241ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-5UTRENST00000352241ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-intronENST00000352241ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-intronENST00000448226ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-intronENST00000448226ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-5UTRENST00000448226ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
5CDS-intronENST00000448226ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000472437ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000472437ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000472437ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000472437ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000328528ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000328528ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000328528ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000328528ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314589ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314589ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000314589ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314589ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394355ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394355ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000394355ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394355ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314557ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314557ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000314557ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000314557ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394351ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394351ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000394351ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394351ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000531774ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000531774ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000531774ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000531774ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394348ENST00000398540MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394348ENST00000542259MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-5UTRENST00000394348ENST00000497757MITFchr3

69788852

+FRMD4Bchr3

69481912

-
intron-intronENST00000394348ENST00000478263MITFchr3

69788852

+FRMD4Bchr3

69481912

-

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FusionProtFeatures for MITF_FRMD4B


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

O75030

FRMD4B

Q9Y2L6

Member of GRP1 signaling complexes that are acutelyrecruited to plasma membrane ruffles in response to insulinreceptor signaling. May function as a scaffolding protein thatregulates epithelial cell polarity by connecting ARF6 activationwith the PAR3 complex. Plays a redundant role with FRMD4A inepithelial polarization. {ECO:0000250|UniProtKB:Q920B0}.

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_FRMD4B


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_FRMD4B


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, TRIM25FRMD4BXPO1


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


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RelatedDrugs for MITF_FRMD4B


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_FRMD4B


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