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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Fusion gene:AP3S1-MITF (FusionGDB2 ID:HG1176TG4286)

Fusion Gene Summary for AP3S1-MITF

check button Fusion gene summary
Fusion gene informationFusion gene name: AP3S1-MITF
Fusion gene ID: hg1176tg4286
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('AP3S1')('MITF')

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 geneENST00000316788, ENST00000505423, 
Fusion gene scores* 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

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

Most frequent breakpointAP3S1(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

check button Fusion gene information
* 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 Gene ORF analysis for AP3S1-MITF

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-3UTRENST00000316788ENST00000394348AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000314557AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000314589AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000328528AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000352241AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000394351AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000394355AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000448226AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000472437AP3S1chr5

115205825

+MITFchr3

69986973

+
In-frameENST00000316788ENST00000531774AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000314557AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000314589AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000328528AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000352241AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000394351AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000394355AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000448226AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000472437AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3CDSENST00000505423ENST00000531774AP3S1chr5

115205825

+MITFchr3

69986973

+
intron-3UTRENST00000505423ENST00000394348AP3S1chr5

115205825

+MITFchr3

69986973

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
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 Genomic Features for AP3S1-MITF


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
AP3S1chr5115205825+MITFchr369986972+2.34E-081
AP3S1chr5115205825+MITFchr369986972+2.34E-081

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

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Fusion Protein Features for AP3S1-MITF


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.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709355_40211414.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110355_402102505.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110355_402117520.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110355_402118521.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109355_40211420.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509355_40293496.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110355_402118527.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110355_40266469.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409355_40211358.0Coiled coilOntology_term=ECO:0000305
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709311_36411414.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110311_364102505.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110311_364117520.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110311_364118521.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109311_36411420.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509311_36493496.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110311_364118527.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110311_36466469.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409311_36411358.0DomainbHLH
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709224_29511414.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709374_39511414.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000031455709401_43111414.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110224_295102505.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110374_395102505.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000314589110401_431102505.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110224_295117520.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110374_395117520.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000328528110401_431117520.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110224_295118521.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110374_395118521.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000352241110401_431118521.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109224_29511420.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109374_39511420.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000039435109401_43111420.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509224_29593496.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509374_39593496.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000039435509401_43193496.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110224_295118527.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110374_395118527.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000448226110401_431118527.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110224_29566469.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110374_39566469.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST00000472437110401_43166469.0RegionNote=DNA binding regulation
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409224_29511358.0RegionNote=Transactivation
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409374_39511358.0RegionLeucine-zipper
TgeneMITFchr5:115205825chr3:69986973ENST0000053177409401_43111358.0RegionNote=DNA binding regulation

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


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Fusion Gene Sequence for AP3S1-MITF


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>5299_5299_1_AP3S1-MITF_AP3S1_chr5_115205825_ENST00000316788_MITF_chr3_69986973_ENST00000314557_length(transcript)=2459nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA

>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(transcript)=2438nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA

>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(transcript)=5128nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA
AAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATAAATGTATTGATTCATTGG
TACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATGTATTCTGTAAAAGAAAAA
AAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGTTAGACCAAGGCTCTGAAA
TATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTTTTTCATAAGATATTTTAT
TTTGAAATGGAAATTAATGTCCTCTCAAAGTAAAATATTGAGGAGCACTGAAAGTATGTTTTACTTTTTTTTTATTTTATTTTTGCTTTT
GATAAGAAAACCGAACTGGGCATATTTCTAATTGGCTTTACTATTTTTATTTTTAAATTATGTTTTACTGTTCATTTGATTTGTACAGAT
TCTTTATTATCATTGTTCTTTTCAATATATTTGTATTAATTTGTAAGAATATGCATCTTAAAATGGCAAGTTTTCCATATTTTTACAACT
CACTGGTGGTTTTCCGCATTCTTTGTACACCCATGAAAGAAAACTTTTATGCAAGGTCTTGCATTTAAAAGACAGCTTTGCGAATATTTT
GTAAATTACAGTCTCACTCAGAACTGTTTTTGGACACATTTAAGGTGTAGTATTAATAGGTTAAAACCAGGCTTTCTAGAAAGAATAAAC
TTACATATTTATTTTTAGGACATGAAAATAGCAATATTCTTGGAGATTGATAACCATAGCATTAATACGCCCATTATGGTCATTTAAATT
GGGGTTTATTTCAGCAAACTTGTTGAATTTATTTTTAAGAAAGAAATACTGTATTGGGAAGTTACTGTTACTTGATAACAATGTTTTAAC
AAGAAGCAATGTTATAAAGTTAGTTTCAGTGCATTATCTACTTGTGTAGTCCTATGCAATAACAGTAGTGTTACATGTATCAAGCCTAGA
TGTTTTATACAGATGCCATATAGTGTTATGAGCCAGGCTGTTGAATGGAATTTCTCAGTAGCAGCCTACAACTGAATAGCAAGTGGCATA
AAGCATATCCATTCAGAATGAAGTGCCTTAAATATAGCAGTAGTCTTTTTTGGACTAGCACTGACTGAACTGTAATGTAGGGGAAAGTTT
CATGATGGTATCTATAGTCAAGACGAACATGTAGCATGGTGCCTATGTAGACAATATAAGAGCTTCCAATTTTCCTTCAGATATTTTTAA
TATTAAATATATTTTAGTGACAGAGTGCCAACTTCTTTCATCAGGAAACCTTATTCAGGAGGGTTTTTAAAAAGTGTTTAAATGTCAAAT
GTGAATTGGTGATGGGTGATGGAGGGTTCAGAGAGGAGTGATCGTCAGATGTGTGAATGGACGGTTTAGGTGAAAATAATCAACTGCATA
GTTCCCATGCACGCTGGGCAATGAGAATCCTTGGAAACATTGGTGATGCTATCAGTTTTATAGCTTTATTTCTTAAGGGGGTAGGGAAAA
TTAGTTCCCATTCTTTCAACCCCCTTAACTGTATAGCTCTTTTCCTAGAATAGTGACGCAAATCTGCATGAACAGCTAATTGTACCATAG
TGTTCATTGATACAATCATAGCATTGTCTATTTTTCTCTTCATATTTATATGGGGGGGAGGGCGCTGGATGCAAAAGTTGAAGATCGTGA
TGCTATGATGTTAGTTTTCCTTAGCTGATTTTGAGGGTTTTTAAAAATAAAGCAAGGTTGACTAACCTACGGCCACGGGAACAGGACCAT
GGTTAAGCAACCATATAGAAAGCTTTGTTGAAAGAAAGTATGGCATCTTGTACCACTGCCCTGACTGTCACAACTCCTAACCTTGCCATT
GCCTGCCTCCCCCTCCCCTTCTCCTTAAGAGACAATTTCTGCAGGTGGCAGGTGAGCAAGCCCAGGAGAATGCTGCAATCTTGGGGGTGG
TTTTATTTATTTCTTTTTTGCCAAATAGAGTGTGGATTCATTTCAGGGGCTAGCTAAGCCAAGAGGCAGTGGTTTGGGCTTGTTGTTTGT
AACAAGAAAATGATCCACACCACTCCCCCGATTCCCGGGTGCAGAATTGTAACTCGGGGTTGGGCCTCTATATGGAGTGACCAAAATGCC
AAAATTGTCCATCTGCCTCTGAGTAGGGCAATGGAAATACCAAACCTTCTGACTTTGCCAAAAAGCATACAAGCAACCTGGTCATACATA
GGATGACAAAATTCTTTCTGGTTGTTTTTAAACAATAAAGCAATAAGAACAAATACAATACATAGGAAGTTAAAAGCACAAAGGAATGAA
CTTATTAATATTTTTGAAAAATGCACTGGGAAAAAGTTGATGTCAATAACAGTATAAAACAGCCCTATTTCTTGATAAAAAATGACAAAT
GACTGTCTCTTGCGGATGCTTGGTACTGTAATGTTAATAATAGTCACCTGCTGTTGGATGCAGCAATAATTTCTGTATGGTCCATAGCAC

>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(transcript)=5127nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA
AAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATAAATGTATTGATTCATTGG
TACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATGTATTCTGTAAAAGAAAAA
AAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGTTAGACCAAGGCTCTGAAA
TATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTTTTTCATAAGATATTTTAT
TTTGAAATGGAAATTAATGTCCTCTCAAAGTAAAATATTGAGGAGCACTGAAAGTATGTTTTACTTTTTTTTTATTTTATTTTTGCTTTT
GATAAGAAAACCGAACTGGGCATATTTCTAATTGGCTTTACTATTTTTATTTTTAAATTATGTTTTACTGTTCATTTGATTTGTACAGAT
TCTTTATTATCATTGTTCTTTTCAATATATTTGTATTAATTTGTAAGAATATGCATCTTAAAATGGCAAGTTTTCCATATTTTTACAACT
CACTGGTGGTTTTCCGCATTCTTTGTACACCCATGAAAGAAAACTTTTATGCAAGGTCTTGCATTTAAAAGACAGCTTTGCGAATATTTT
GTAAATTACAGTCTCACTCAGAACTGTTTTTGGACACATTTAAGGTGTAGTATTAATAGGTTAAAACCAGGCTTTCTAGAAAGAATAAAC
TTACATATTTATTTTTAGGACATGAAAATAGCAATATTCTTGGAGATTGATAACCATAGCATTAATACGCCCATTATGGTCATTTAAATT
GGGGTTTATTTCAGCAAACTTGTTGAATTTATTTTTAAGAAAGAAATACTGTATTGGGAAGTTACTGTTACTTGATAACAATGTTTTAAC
AAGAAGCAATGTTATAAAGTTAGTTTCAGTGCATTATCTACTTGTGTAGTCCTATGCAATAACAGTAGTGTTACATGTATCAAGCCTAGA
TGTTTTATACAGATGCCATATAGTGTTATGAGCCAGGCTGTTGAATGGAATTTCTCAGTAGCAGCCTACAACTGAATAGCAAGTGGCATA
AAGCATATCCATTCAGAATGAAGTGCCTTAAATATAGCAGTAGTCTTTTTTGGACTAGCACTGACTGAACTGTAATGTAGGGGAAAGTTT
CATGATGGTATCTATAGTCAAGACGAACATGTAGCATGGTGCCTATGTAGACAATATAAGAGCTTCCAATTTTCCTTCAGATATTTTTAA
TATTAAATATATTTTAGTGACAGAGTGCCAACTTCTTTCATCAGGAAACCTTATTCAGGAGGGTTTTTAAAAAGTGTTTAAATGTCAAAT
GTGAATTGGTGATGGGTGATGGAGGGTTCAGAGAGGAGTGATCGTCAGATGTGTGAATGGACGGTTTAGGTGAAAATAATCAACTGCATA
GTTCCCATGCACGCTGGGCAATGAGAATCCTTGGAAACATTGGTGATGCTATCAGTTTTATAGCTTTATTTCTTAAGGGGGTAGGGAAAA
TTAGTTCCCATTCTTTCAACCCCCTTAACTGTATAGCTCTTTTCCTAGAATAGTGACGCAAATCTGCATGAACAGCTAATTGTACCATAG
TGTTCATTGATACAATCATAGCATTGTCTATTTTTCTCTTCATATTTATATGGGGGGGAGGGCGCTGGATGCAAAAGTTGAAGATCGTGA
TGCTATGATGTTAGTTTTCCTTAGCTGATTTTGAGGGTTTTTAAAAATAAAGCAAGGTTGACTAACCTACGGCCACGGGAACAGGACCAT
GGTTAAGCAACCATATAGAAAGCTTTGTTGAAAGAAAGTATGGCATCTTGTACCACTGCCCTGACTGTCACAACTCCTAACCTTGCCATT
GCCTGCCTCCCCCTCCCCTTCTCCTTAAGAGACAATTTCTGCAGGTGGCAGGTGAGCAAGCCCAGGAGAATGCTGCAATCTTGGGGGTGG
TTTTATTTATTTCTTTTTTGCCAAATAGAGTGTGGATTCATTTCAGGGGCTAGCTAAGCCAAGAGGCAGTGGTTTGGGCTTGTTGTTTGT
AACAAGAAAATGATCCACACCACTCCCCCGATTCCCGGGTGCAGAATTGTAACTCGGGGTTGGGCCTCTATATGGAGTGACCAAAATGCC
AAAATTGTCCATCTGCCTCTGAGTAGGGCAATGGAAATACCAAACCTTCTGACTTTGCCAAAAAGCATACAAGCAACCTGGTCATACATA
GGATGACAAAATTCTTTCTGGTTGTTTTTAAACAATAAAGCAATAAGAACAAATACAATACATAGGAAGTTAAAAGCACAAAGGAATGAA
CTTATTAATATTTTTGAAAAATGCACTGGGAAAAAGTTGATGTCAATAACAGTATAAAACAGCCCTATTTCTTGATAAAAAATGACAAAT
GACTGTCTCTTGCGGATGCTTGGTACTGTAATGTTAATAATAGTCACCTGCTGTTGGATGCAGCAATAATTTCTGTATGGTCCATAGCAC

>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(transcript)=2633nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGCGTGTATTTTTCCCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAA
GAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAA
CCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGG
AGCACGCCAACCGGCATTTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTC
TCTGCTCTCCAGATTTGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACC
TAACCTGTACAACAACTCTCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATA
GTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCT
CAGTGTCCCCCGGAGCTTCCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTG
CACTGCATTCGCACAAACTGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATG
AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTA
CAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTT
GCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAG
TTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATA
AATGTATTGATTCATTGGTACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATG

>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(transcript)=5124nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA
AAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATAAATGTATTGATTCATTGG
TACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATGTATTCTGTAAAAGAAAAA
AAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGTTAGACCAAGGCTCTGAAA
TATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTTTTTCATAAGATATTTTAT
TTTGAAATGGAAATTAATGTCCTCTCAAAGTAAAATATTGAGGAGCACTGAAAGTATGTTTTACTTTTTTTTTATTTTATTTTTGCTTTT
GATAAGAAAACCGAACTGGGCATATTTCTAATTGGCTTTACTATTTTTATTTTTAAATTATGTTTTACTGTTCATTTGATTTGTACAGAT
TCTTTATTATCATTGTTCTTTTCAATATATTTGTATTAATTTGTAAGAATATGCATCTTAAAATGGCAAGTTTTCCATATTTTTACAACT
CACTGGTGGTTTTCCGCATTCTTTGTACACCCATGAAAGAAAACTTTTATGCAAGGTCTTGCATTTAAAAGACAGCTTTGCGAATATTTT
GTAAATTACAGTCTCACTCAGAACTGTTTTTGGACACATTTAAGGTGTAGTATTAATAGGTTAAAACCAGGCTTTCTAGAAAGAATAAAC
TTACATATTTATTTTTAGGACATGAAAATAGCAATATTCTTGGAGATTGATAACCATAGCATTAATACGCCCATTATGGTCATTTAAATT
GGGGTTTATTTCAGCAAACTTGTTGAATTTATTTTTAAGAAAGAAATACTGTATTGGGAAGTTACTGTTACTTGATAACAATGTTTTAAC
AAGAAGCAATGTTATAAAGTTAGTTTCAGTGCATTATCTACTTGTGTAGTCCTATGCAATAACAGTAGTGTTACATGTATCAAGCCTAGA
TGTTTTATACAGATGCCATATAGTGTTATGAGCCAGGCTGTTGAATGGAATTTCTCAGTAGCAGCCTACAACTGAATAGCAAGTGGCATA
AAGCATATCCATTCAGAATGAAGTGCCTTAAATATAGCAGTAGTCTTTTTTGGACTAGCACTGACTGAACTGTAATGTAGGGGAAAGTTT
CATGATGGTATCTATAGTCAAGACGAACATGTAGCATGGTGCCTATGTAGACAATATAAGAGCTTCCAATTTTCCTTCAGATATTTTTAA
TATTAAATATATTTTAGTGACAGAGTGCCAACTTCTTTCATCAGGAAACCTTATTCAGGAGGGTTTTTAAAAAGTGTTTAAATGTCAAAT
GTGAATTGGTGATGGGTGATGGAGGGTTCAGAGAGGAGTGATCGTCAGATGTGTGAATGGACGGTTTAGGTGAAAATAATCAACTGCATA
GTTCCCATGCACGCTGGGCAATGAGAATCCTTGGAAACATTGGTGATGCTATCAGTTTTATAGCTTTATTTCTTAAGGGGGTAGGGAAAA
TTAGTTCCCATTCTTTCAACCCCCTTAACTGTATAGCTCTTTTCCTAGAATAGTGACGCAAATCTGCATGAACAGCTAATTGTACCATAG
TGTTCATTGATACAATCATAGCATTGTCTATTTTTCTCTTCATATTTATATGGGGGGGAGGGCGCTGGATGCAAAAGTTGAAGATCGTGA
TGCTATGATGTTAGTTTTCCTTAGCTGATTTTGAGGGTTTTTAAAAATAAAGCAAGGTTGACTAACCTACGGCCACGGGAACAGGACCAT
GGTTAAGCAACCATATAGAAAGCTTTGTTGAAAGAAAGTATGGCATCTTGTACCACTGCCCTGACTGTCACAACTCCTAACCTTGCCATT
GCCTGCCTCCCCCTCCCCTTCTCCTTAAGAGACAATTTCTGCAGGTGGCAGGTGAGCAAGCCCAGGAGAATGCTGCAATCTTGGGGGTGG
TTTTATTTATTTCTTTTTTGCCAAATAGAGTGTGGATTCATTTCAGGGGCTAGCTAAGCCAAGAGGCAGTGGTTTGGGCTTGTTGTTTGT
AACAAGAAAATGATCCACACCACTCCCCCGATTCCCGGGTGCAGAATTGTAACTCGGGGTTGGGCCTCTATATGGAGTGACCAAAATGCC
AAAATTGTCCATCTGCCTCTGAGTAGGGCAATGGAAATACCAAACCTTCTGACTTTGCCAAAAAGCATACAAGCAACCTGGTCATACATA
GGATGACAAAATTCTTTCTGGTTGTTTTTAAACAATAAAGCAATAAGAACAAATACAATACATAGGAAGTTAAAAGCACAAAGGAATGAA
CTTATTAATATTTTTGAAAAATGCACTGGGAAAAAGTTGATGTCAATAACAGTATAAAACAGCCCTATTTCTTGATAAAAAATGACAAAT
GACTGTCTCTTGCGGATGCTTGGTACTGTAATGTTAATAATAGTCACCTGCTGTTGGATGCAGCAATAATTTCTGTATGGTCCATAGCAC

>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(transcript)=2838nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGCGTGTATTTTTCCCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAA
GAAGAAGATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAA
CCATCTTAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGG
AGCACGCCAACCGGCATTTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTC
TCTGCTCTCCAGATTTGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACC
TAACCTGTACAACAACTCTCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATA
GTGTCCCCACAAAAATGGGATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCT
CAGTGTCCCCCGGAGCTTCCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTG
CACTGCATTCGCACAAACTGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATG
AAATTTTTTTTCATGCTTTATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTA
CAAATGCCTCCAAAGTATTGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTT
GCGTCAGAGAAATGTCTGTCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAG
TTTAATTGAAAGAATGTAAAGCAACCAAAAAGAAAAAAAAAAAGAAAGAAAGAGGAAAAGAAATCCATACTAACCCTTTTCCATTTTATA
AATGTATTGATTCATTGGTACTGCCTTAAAGATACAGTACCCCTCTAGCTTTGTTTAGTCTTTATACTGCAAACTATTTAAAGAAATATG
TATTCTGTAAAAGAAAAAAAAAATGCGGCCTTTTCATGAGGATCGTCTGGTTAGAAAACATAACTGATACCAACCGAAACTGAAGGGAGT
TAGACCAAGGCTCTGAAATATAAAGTCTAATCTTGCTCTCTTTTATTCTGTGCTGTTACAGTTTTCTTCATCAATGAGTGTGATCCAGTT

>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(transcript)=2438nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGTAAAGCAGT
ACCTTTCTACCACTTTAGCAAATAAACATGCCAACCAAGTCCTGAGCTTGCCATGTCCAAACCAGCCTGGCGATCATGTCATGCCACCGG
TGCCGGGGAGCAGCGCACCCAACAGCCCCATGGCTATGCTTACGCTTAACTCCAACTGTGAAAAAGAGGGATTTTATAAGTTTGAAGAGC
AAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCGATGACATCATTA
GCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCTCGGGAAACTTGA
TTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACATAAAAAGGGAGC
TCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAAGATTTAACATAA
ATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCTTAAAAGCATCCG
TGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACGCCAACCGGCATT
TGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCTCTCCAGATTTGG
TGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCTGTACAACAACTC
TCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCCCCACAAAAATGG
GATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGTCCCCCGGAGCTT
CCAAAACAAGCAGCCGGAGGAGCAGTATGAGCATGGAAGAGACGGAGCACACTTGTTAGCGAATCCTCCCTGCACTGCATTCGCACAAAC
TGCTTCCTTTCTTGATTCGTAGATTTAATAACTTACCTGAAGGGGTTTTCTTGATAATTTTCCTTTAATATGAAATTTTTTTTCATGCTT
TATCAATAGCCCAGGATATATTTTATTTTTAGAATTTTGTGAAACAGACTTGTATATTCTATTTTACAACTACAAATGCCTCCAAAGTAT
TGTACAAATAAGTGTGCAGTATCTGTGAACTGAATTCACCACAGACTTTAGCTTTCTGAGCAAGAGGATTTTGCGTCAGAGAAATGTCTG
TCCATTTTTATTCAGGGGAAACTTGATTTGAGATTTTTATGCCTGTGACTTCCTTGGAAATCAAATGTAAAGTTTAATTGAAAGAATGTA

>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(transcript)=1871nt_BP=830nt
ATCCGTAAGTCCTTCCCCTCCAGCAGCAATTGAAGTAGGAAGCTGCAACACAGACTGCGGCTCCTCCGCCATCTTGCTTGGAGACACTCG
AGAGCGGAAGTAGCGACTGAGCGCGTGCAGTGGGCGTGCTTTTCTCCAGGGAGCGTCGCAAAGGAGGCGCCGGAGTAGGGGGACGCAATT
ACACAGTGAAACTTGGTGTTCCCGGCTAGTCATTCAAATCGAAGCTGTCGCAGACCTCTGAACGTTAGTAACGCAACATGTGTTTCTCCG
CGACTACAGACCTCGGGAGAGGAGCGGTGGGCAACGTGTCTGTGCTCGGTCGAATGCGCACACTCCAGTTAGGCCGCTGGCTCGGACCTA
GAAATGTTTCCGCTTTCCTTAGTGCCTGCCCCGCCCAGGCCCCGCCCCTTGGGCCCCGCCCGACGGCTCGGGAGCGCGCGCGGTCGCGTG
CGGGAGGGGGCGGGTGGGGAAGGATCGCAGGCGAGATTACGAGGCGAGGCTCGCGCGCCCGCCCCCGCCCTGGCCCCCAGTGCCCACCCG
GTCGGCCCGGCACAGCCATGATCAAGGCGATCCTAATCTTCAACAACCACGGGAAGCCGCGGCTCTCCAAGTTCTACCAGCCCTACAGTG
AAGATACACAACAGCAAATCATCAGGGAGACTTTCCATTTGGTATCTAAGAGAGATGAAAATGTTTGTAATTTCCTAGAAGGAGGATTAT
TAATTGGAGGATCTGACAACAAACTGATTTATAGACATTATGCAACGTTATATTTTGTCTTCTGTGTGGATTCTTCAGAAAGTGAACTTG
GCATTTTAGATCTAATTCAAGTGCAGACCCACCTCGAAAACCCCACCAAGTACCACATACAGCAAGCCCAACGGCAGCAGGGATTTTATA
AGTTTGAAGAGCAAAACAGGGCAGAGAGCGAGTGCCCAGGCATGAACACACATTCACGAGCGTCCTGTATGCAGATGGATGATGTAATCG
ATGACATCATTAGCCTAGAATCAAGTTATAATGAGGAAATCTTGGGCTTGATGGATCCTGCTTTGCAAATGGCAAATACGTTGCCTGTCT
CGGGAAACTTGATTGATCTTTATGGAAACCAAGGTCTGCCCCCACCAGGCCTCACCATCAGCAACTCCTGTCCAGCCAACCTTCCCAACA
TAAAAAGGGAGCTCACAGAGTCTGAAGCAAGAGCACTGGCCAAAGAGAGGCAGAAAAAGGACAATCACAACCTGATTGAACGAAGAAGAA
GATTTAACATAAATGACCGCATTAAAGAACTAGGTACTTTGATTCCCAAGTCAAATGATCCAGACATGCGCTGGAACAAGGGAACCATCT
TAAAAGCATCCGTGGACTATATCCGAAAGTTGCAACGAGAACAGCAACGCGCAAAAGAACTTGAAAACCGACAGAAGAAACTGGAGCACG
CCAACCGGCATTTGTTGCTCAGAATACAGGAACTTGAAATGCAGGCTCGAGCTCATGGACTTTCCCTTATTCCATCCACGGGTCTCTGCT
CTCCAGATTTGGTGAATCGGATCATCAAGCAAGAACCCGTTCTTGAGAACTGCAGCCAAGACCTCCTTCAGCATCATGCAGACCTAACCT
GTACAACAACTCTCGATCTCACGGATGGCACCATCACCTTCAACAACAACCTCGGAACTGGGACTGAGGCCAACCAAGCCTATAGTGTCC
CCACAAAAATGGGATCCAAACTGGAAGACATCCTGATGGACGACACCCTTTCTCCCGTCGGTGTCACTGATCCACTCCTTTCCTCAGTGT

>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 Gene PPI Analysis for AP3S1-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


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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Related Drugs for AP3S1-MITF


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for AP3S1-MITF


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAP3S1C0023893Liver Cirrhosis, Experimental1CTD_human
TgeneC2700265Waardenburg Syndrome Type 211CLINGEN;CTD_human;ORPHANET
TgeneC1860339WAARDENBURG SYNDROME, TYPE IIA5CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC3152204MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 84CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC4310625COLOBOMA, OSTEOPETROSIS, MICROPHTHALMIA, MACROCEPHALY, ALBINISM, AND DEAFNESS3CTD_human;GENOMICS_ENGLAND;UNIPROT
TgeneC0391816Tietz syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC1863198ALBINISM, OCULAR, WITH SENSORINEURAL DEAFNESS (disorder)2GENOMICS_ENGLAND;ORPHANET
TgeneC3266898Waardenburg Syndrome2GENOMICS_ENGLAND;ORPHANET
TgeneC0007134Renal Cell Carcinoma1CTD_human
TgeneC0007621Neoplastic Cell Transformation1CTD_human
TgeneC0011052Prelingual Deafness1CTD_human
TgeneC0011053Deafness1CTD_human
TgeneC0022283Incontinentia Pigmenti Achromians1CTD_human
TgeneC0025202melanoma1CGI;CTD_human
TgeneC0036305Schamberg Disease1CTD_human
TgeneC0078918Albinism, Oculocutaneous1CTD_human
TgeneC0078921Albinism, Tyrosinase-Negative1CTD_human
TgeneC0078922Albinism, Tyrosinase-Positive1CTD_human
TgeneC0078923Albinism, Yellow-Mutant1CTD_human
TgeneC0086395Hearing Loss, Extreme1CTD_human
TgeneC0151779Cutaneous Melanoma1CGI;CTD_human
TgeneC0279702Conventional (Clear Cell) Renal Cell Carcinoma1CTD_human
TgeneC0549567Pigmentation Disorders1CTD_human
TgeneC0581883Complete Hearing Loss1CTD_human
TgeneC0751068Deafness, Acquired1CTD_human
TgeneC1266042Chromophobe Renal Cell Carcinoma1CTD_human
TgeneC1266043Sarcomatoid Renal Cell Carcinoma1CTD_human
TgeneC1266044Collecting Duct Carcinoma of the Kidney1CTD_human
TgeneC1306837Papillary Renal Cell Carcinoma1CTD_human;ORPHANET
TgeneC1708353Hereditary Paraganglioma-Pheochromocytoma Syndrome1CLINGEN
TgeneC1848519WAARDENBURG SYNDROME, TYPE 4A1ORPHANET
TgeneC2314896Familial Atypical Mole Melanoma Syndrome1ORPHANET
TgeneC2700405WAARDENBURG SYNDROME, TYPE IIE1CTD_human
TgeneC3665473Bilateral Deafness1CTD_human
TgeneC4082305Deaf Mutism1CTD_human
TgeneC4518333Clear cell papillary renal cell carcinoma1ORPHANET
TgeneC4750999Ocular albinism with congenital sensorineural deafness1GENOMICS_ENGLAND