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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:AP3S1-MITF

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: AP3S1-MITF
FusionPDB ID: 5299
FusionGDB2.0 ID: 5299
HgeneTgene
Gene symbol

AP3S1

MITF

Gene ID

1176

4286

Gene nameadaptor related protein complex 3 subunit sigma 1melanocyte inducing transcription factor
SynonymsCLAPS3|Sigma3ACMM8|COMMAD|MI|WS2|WS2A|bHLHe32
Cytomap

5q22.3-q23.1

3p13

Type of geneprotein-codingprotein-coding
DescriptionAP-3 complex subunit sigma-1adapter-related protein complex 3 subunit sigma-1adaptor related protein complex 3 sigma 1 subunitclathrin adaptor complex AP3, sigma-3A subunitclathrin-associated/assembly/adapter protein, small 3clathrin-associated/assemmicrophthalmia-associated transcription factorclass E basic helix-loop-helix protein 32melanogenesis associated transcription factormicrophtalmia-associated transcription factor
Modification date2020032020200329
UniProtAcc

Q92572

O75030

Ensembl transtripts involved in fusion geneENST idsENST00000316788, ENST00000505423, 
ENST00000394348, ENST00000314557, 
ENST00000314589, ENST00000328528, 
ENST00000352241, ENST00000394351, 
ENST00000394355, ENST00000448226, 
ENST00000472437, ENST00000531774, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score9 X 5 X 6=27010 X 9 X 7=630
# samples 910
** MAII scorelog2(9/270*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/630*10)=-2.65535182861255
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: AP3S1 [Title/Abstract] AND MITF [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)AP3S1(115205825)-MITF(69986973), # samples:1
Anticipated loss of major functional domain due to fusion event.AP3S1-MITF seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
AP3S1-MITF seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
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 buttonFusion gene breakpoints across AP3S1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across MITF (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4KIRCTCGA-A3-3376-01AAP3S1chr5

115205825

+MITFchr3

69986973

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000316788AP3S1chr5115205825+ENST00000352241MITFchr369986973+51278302572038593
ENST00000316788AP3S1chr5115205825+ENST00000448226MITFchr369986973+28388302572056599
ENST00000316788AP3S1chr5115205825+ENST00000472437MITFchr369986973+24388302572038593
ENST00000316788AP3S1chr5115205825+ENST00000328528MITFchr369986973+51288302572038593
ENST00000316788AP3S1chr5115205825+ENST00000314589MITFchr369986973+24388302572038593
ENST00000316788AP3S1chr5115205825+ENST00000394355MITFchr369986973+51248302572038593
ENST00000316788AP3S1chr5115205825+ENST00000314557MITFchr369986973+24598302572038593
ENST00000316788AP3S1chr5115205825+ENST00000394351MITFchr369986973+26338302572056599
ENST00000316788AP3S1chr5115205825+ENST00000531774MITFchr369986973+18718302571870538

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000316788ENST00000352241AP3S1chr5115205825+MITFchr369986973+0.0008635590.9991365
ENST00000316788ENST00000448226AP3S1chr5115205825+MITFchr369986973+0.0050376190.99496233
ENST00000316788ENST00000472437AP3S1chr5115205825+MITFchr369986973+0.0116100890.98838997
ENST00000316788ENST00000328528AP3S1chr5115205825+MITFchr369986973+0.0008612240.9991387
ENST00000316788ENST00000314589AP3S1chr5115205825+MITFchr369986973+0.0116100890.98838997
ENST00000316788ENST00000394355AP3S1chr5115205825+MITFchr369986973+0.0008649540.9991351
ENST00000316788ENST00000314557AP3S1chr5115205825+MITFchr369986973+0.0110869460.988913
ENST00000316788ENST00000394351AP3S1chr5115205825+MITFchr369986973+0.0066870810.9933129
ENST00000316788ENST00000531774AP3S1chr5115205825+MITFchr369986973+0.0230829680.976917

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>5299_5299_1_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000314557_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_2_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000314589_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_3_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000328528_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_4_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000352241_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_5_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000394351_length(amino acids)=599AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENR
QKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEA

--------------------------------------------------------------

>5299_5299_6_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000394355_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_7_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000448226_length(amino acids)=599AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTACIFPTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENR
QKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEA

--------------------------------------------------------------

>5299_5299_8_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000472437_length(amino acids)=593AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQVKQYLSTTLANKHANQVLSLPCPNQPGDHVMPPVPGSSAPNSPMAMLTLNSNCEKEGFY
KFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMANTLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPN
IKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWNKGTILKASVDYIRKLQREQQRAKELENRQKKLEH
ANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHHADLTCTTTLDLTDGTITFNNNLGTGTEANQAYSV

--------------------------------------------------------------

>5299_5299_9_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000531774_length(amino acids)=538AA_BP=190
MCFSATTDLGRGAVGNVSVLGRMRTLQLGRWLGPRNVSAFLSACPAQAPPLGPRPTARERARSRAGGGGWGRIAGEITRRGSRARPRPGP
QCPPGRPGTAMIKAILIFNNHGKPRLSKFYQPYSEDTQQQIIRETFHLVSKRDENVCNFLEGGLLIGGSDNKLIYRHYATLYFVFCVDSS
ESELGILDLIQVQTHLENPTKYHIQQAQRQQGFYKFEEQNRAESECPGMNTHSRASCMQMDDVIDDIISLESSYNEEILGLMDPALQMAN
TLPVSGNLIDLYGNQGLPPPGLTISNSCPANLPNIKRELTESEARALAKERQKKDNHNLIERRRRFNINDRIKELGTLIPKSNDPDMRWN
KGTILKASVDYIRKLQREQQRAKELENRQKKLEHANRHLLLRIQELEMQARAHGLSLIPSTGLCSPDLVNRIIKQEPVLENCSQDLLQHH

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr5:115205825/chr3:69986973)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AP3S1

Q92572

MITF

O75030

FUNCTION: Part of the AP-3 complex, an adaptor-related complex which is not clathrin-associated. The complex is associated with the Golgi region as well as more peripheral structures. It facilitates the budding of vesicles from the Golgi membrane and may be directly involved in trafficking to lysosomes. In concert with the BLOC-1 complex, AP-3 is required to target cargos into vesicles assembled at cell bodies for delivery into neurites and nerve terminals.FUNCTION: Transcription factor that regulates the expression of genes with essential roles in cell differentiation, proliferation and survival. Binds to M-boxes (5'-TCATGTG-3') and symmetrical DNA sequences (E-boxes) (5'-CACGTG-3') found in the promoters of target genes, such as BCL2 and tyrosinase (TYR). Plays an important role in melanocyte development by regulating the expression of tyrosinase (TYR) and tyrosinase-related protein 1 (TYRP1). Plays a critical role in the differentiation of various cell types, such as neural crest-derived melanocytes, mast cells, osteoclasts and optic cup-derived retinal pigment epithelium. {ECO:0000269|PubMed:10587587, ECO:0000269|PubMed:22647378, ECO:0000269|PubMed:27889061, ECO:0000269|PubMed:9647758}.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709355_40211.0414.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110355_402102.0505.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110355_402117.0520.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110355_402118.0521.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109355_40211.0420.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509355_40293.0496.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110355_402118.0527.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110355_40266.0469.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409355_40211.0358.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709311_36411.0414.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110311_364102.0505.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110311_364117.0520.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110311_364118.0521.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109311_36411.0420.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509311_36493.0496.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110311_364118.0527.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110311_36466.0469.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409311_36411.0358.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709224_29511.0414.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709374_39511.0414.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709401_43111.0414.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110224_295102.0505.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110374_395102.0505.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110401_431102.0505.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110224_295117.0520.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110374_395117.0520.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110401_431117.0520.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110224_295118.0521.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110374_395118.0521.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110401_431118.0521.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109224_29511.0420.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109374_39511.0420.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109401_43111.0420.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509224_29593.0496.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509374_39593.0496.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509401_43193.0496.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110224_295118.0527.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110374_395118.0527.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110401_431118.0527.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110224_29566.0469.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110374_39566.0469.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110401_43166.0469.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409224_29511.0358.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409374_39511.0358.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409401_43111.0358.0RegionNote=DNA binding regulation

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
AP3S1all structure
MITFall structure


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to AP3S1-MITF


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to AP3S1-MITF


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3S1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneMITFC2700265Waardenburg Syndrome Type 211CLINGEN;CTD_human;ORPHANET
TgeneMITFC1860339WAARDENBURG SYNDROME, TYPE IIA5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMITFC3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 84CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMITFC4310625COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneMITFC0391816Tietz syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneMITFC1863198ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)2GENOMICS_ENGLAND;ORPHANET
TgeneMITFC3266898Waardenburg Syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneMITFC0007134Renal Cell Carcinoma1CTD_human
TgeneMITFC0007621Neoplastic Cell Transformation1CTD_human
TgeneMITFC0011052Prelingual Deafness1CTD_human
TgeneMITFC0011053Deafness1CTD_human
TgeneMITFC0022283Incontinentia Pigmenti Achromians1CTD_human
TgeneMITFC0025202melanoma1CGI;CTD_human
TgeneMITFC0036305Schamberg Disease1CTD_human
TgeneMITFC0078918Albinism, Oculocutaneous1CTD_human
TgeneMITFC0078921Albinism, Tyrosinase-Negative1CTD_human
TgeneMITFC0078922Albinism, Tyrosinase-Positive1CTD_human
TgeneMITFC0078923Albinism, Yellow-Mutant1CTD_human
TgeneMITFC0086395Hearing Loss, Extreme1CTD_human
TgeneMITFC0151779Cutaneous Melanoma1CGI;CTD_human
TgeneMITFC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneMITFC0549567Pigmentation Disorders1CTD_human
TgeneMITFC0581883Complete Hearing Loss1CTD_human
TgeneMITFC0751068Deafness, Acquired1CTD_human
TgeneMITFC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneMITFC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneMITFC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneMITFC1306837Papillary Renal Cell Carcinoma1CTD_human;ORPHANET
TgeneMITFC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
TgeneMITFC1848519WAARDENBURG SYNDROME, TYPE 4A1ORPHANET
TgeneMITFC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneMITFC2700405WAARDENBURG SYNDROME, TYPE IIE1CTD_human
TgeneMITFC3665473Bilateral Deafness1CTD_human
TgeneMITFC4082305Deaf Mutism1CTD_human
TgeneMITFC4518333Clear cell papillary renal cell carcinoma1ORPHANET
TgeneMITFC4750999Ocular albinism with congenital sensorineural deafness1GENOMICS_ENGLAND