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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: 6924

FusionGeneSummary for CGGBP1_MITF

check button Fusion gene summary
Fusion gene informationFusion gene name: CGGBP1_MITF
Fusion gene ID: 6924
HgeneTgene
Gene symbol

CGGBP1

MITF

Gene ID

8545

4286

Gene nameCGG triplet repeat binding protein 1melanogenesis associated transcription factor
SynonymsCGGBP|p20-CGGBPCMM8|COMMAD|MI|WS2|WS2A|bHLHe32
Cytomap

3p11.1

3p13

Type of geneprotein-codingprotein-coding
DescriptionCGG triplet repeat-binding protein 120 kDa CGG-binding proteinCGG-binding protein 1p20-CGG binding proteinp20-CGGBP DNA-binding proteinmicrophthalmia-associated transcription factorclass E basic helix-loop-helix protein 32microphtalmia-associated transcription factor
Modification date2018052320180527
UniProtAcc

Q9UFW8

O75030

Ensembl transtripts involved in fusion geneENST00000309534, ENST00000398392, 
ENST00000482016, ENST00000462901, 
ENST00000474441, 		ENST00000352241, 
ENST00000448226, ENST00000472437, 
ENST00000328528, ENST00000314589, 
ENST00000394355, ENST00000314557, 
ENST00000394351, ENST00000531774, 
ENST00000394348, 
Fusion gene scores* DoF score3 X 2 X 3=182 X 1 X 2=4
# samples 32
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(2/4*10)=2.32192809488736
Context

PubMed: CGGBP1 [Title/Abstract] AND MITF [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
HgeneCGGBP1

GO:0000122

negative regulation of transcription by RNA polymerase II

10692448

TgeneMITF

GO:0010628

positive regulation of gene expression

22234890

TgeneMITF

GO:0045893

positive regulation of transcription, DNA-templated

9647758

TgeneMITF

GO:0045944

positive regulation of transcription by RNA polymerase II

20530484|21209915

TgeneMITF

GO:0065003

protein-containing complex assembly

20530484

TgeneMITF

GO:2000144

positive regulation of DNA-templated transcription, initiation

8995290|12204775

TgeneMITF

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
TCGARVHNSCTCGA-CV-5432-01ACGGBP1chr3

88190120

-MITFchr3

69998202

+
* 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
intron-3CDSENST00000309534ENST00000352241CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000448226CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000472437CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000328528CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000314589CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000394355CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000314557CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000394351CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000309534ENST00000531774CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-intronENST00000309534ENST00000394348CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000352241CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000448226CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000472437CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000328528CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000314589CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000394355CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000314557CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000394351CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000398392ENST00000531774CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-intronENST00000398392ENST00000394348CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000352241CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000448226CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000472437CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000328528CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000314589CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000394355CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000314557CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000394351CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000482016ENST00000531774CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-intronENST00000482016ENST00000394348CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000352241CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000448226CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000472437CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000328528CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000314589CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000394355CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000314557CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000394351CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-3CDSENST00000462901ENST00000531774CGGBP1chr3

88190120

-MITFchr3

69998202

+
5UTR-intronENST00000462901ENST00000394348CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000352241CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000448226CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000472437CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000328528CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000314589CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000394355CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000314557CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000394351CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-3CDSENST00000474441ENST00000531774CGGBP1chr3

88190120

-MITFchr3

69998202

+
intron-intronENST00000474441ENST00000394348CGGBP1chr3

88190120

-MITFchr3

69998202

+

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FusionProtFeatures for CGGBP1_MITF


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
CGGBP1

Q9UFW8

MITF

O75030

Binds to nonmethylated 5'-d(CGG)(n)-3' trinucleotiderepeats in the FMR1 promoter. May play a role in regulating FMR1promoter. {ECO:0000269|PubMed:9201980}.

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 CGGBP1_MITF


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 CGGBP1_MITF


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
CGGBP1ELAVL1, REL, SDCBP, CGGBP1, GLRX3, FAM124A, SPIN2B, SPIN1, MRM1, APEX1, FKBP3, DDB1, PLEKHF2, NPM1, RBPJ, SNRNP27, RNF111MITFLEF1, 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, TRIM25


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 CGGBP1_MITF


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 CGGBP1_MITF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMITFC3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 82CTD_human;ORPHANET;UNIPROT
TgeneMITFC0007134Renal Cell Carcinoma1CTD_human
TgeneMITFC0007621Neoplastic Cell Transformation1CTD_human
TgeneMITFC0011053Deafness1CTD_human
TgeneMITFC0025202melanoma1CTD_human;HPO
TgeneMITFC0078918Albinism, Oculocutaneous1CTD_human
TgeneMITFC0151779Cutaneous Melanoma1CTD_human
TgeneMITFC0391816Tietz syndrome1CTD_human;ORPHANET;UNIPROT
TgeneMITFC0549567Pigmentation Disorders1CTD_human
TgeneMITFC1860339WAARDENBURG SYNDROME, TYPE IIA1CTD_human;UNIPROT
TgeneMITFC2700265Waardenburg Syndrome Type 21CTD_human;ORPHANET