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Center for Computational Systems Medicine
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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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Related Drugs

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Related Diseases

Fusion gene:TTC39C-NPC1 (FusionGDB2 ID:95046)

Fusion Gene Summary for TTC39C-NPC1

check button Fusion gene summary
Fusion gene informationFusion gene name: TTC39C-NPC1
Fusion gene ID: 95046
HgeneTgene
Gene symbol

TTC39C

NPC1

Gene ID

125488

4864

Gene nametetratricopeptide repeat domain 39CNPC intracellular cholesterol transporter 1
SynonymsC18orf17|HsT2697NPC|POGZ|SLC65A1
Cytomap

18q11.2

18q11.2

Type of geneprotein-codingprotein-coding
Descriptiontetratricopeptide repeat protein 39CTPR repeat protein 39CNPC intracellular cholesterol transporter 1Niemann-Pick C1 proteintruncated Niemann-Pick C1
Modification date2020031320200315
UniProtAcc.

NPC1L1

Ensembl transtripts involved in fusion geneENST00000304621, ENST00000317571, 
ENST00000540918, ENST00000577185, 
ENST00000578150, ENST00000584250, 
ENST00000412552, ENST00000540608, 
ENST00000269228, 
Fusion gene scores* DoF score6 X 5 X 5=15012 X 11 X 5=660
# samples 613
** MAII scorelog2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(13/660*10)=-2.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TTC39C [Title/Abstract] AND NPC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointTTC39C(21663045)-NPC1(21153538), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
TgeneNPC1

GO:0006486

protein glycosylation

10821832

TgeneNPC1

GO:0030301

cholesterol transport

18772377

TgeneNPC1

GO:0033344

cholesterol efflux

16141411

TgeneNPC1

GO:0042632

cholesterol homeostasis

12719428

TgeneNPC1

GO:0090150

establishment of protein localization to membrane

23360953


check buttonFusion gene breakpoints across TTC39C (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 NPC1 (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 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
ChimerDB4STADTCGA-CD-8526-01ATTC39Cchr18

21663045

-NPC1chr18

21153538

-


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Fusion Gene ORF analysis for TTC39C-NPC1

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-intronENST00000304621ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
5CDS-intronENST00000304621ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-
5CDS-intronENST00000317571ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
5CDS-intronENST00000317571ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-
In-frameENST00000304621ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
In-frameENST00000317571ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-3CDSENST00000540918ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-3CDSENST00000577185ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-3CDSENST00000578150ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-3CDSENST00000584250ENST00000269228TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000540918ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000540918ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000577185ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000577185ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000578150ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000578150ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000584250ENST00000412552TTC39Cchr18

21663045

-NPC1chr18

21153538

-
intron-intronENST00000584250ENST00000540608TTC39Cchr18

21663045

-NPC1chr18

21153538

-

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)
ENST00000304621TTC39Cchr1821663045-ENST00000269228NPC1chr1821153538-5628108328248621526
ENST00000317571TTC39Cchr1821663045-ENST00000269228NPC1chr1821153538-5765122019149991602

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
ENST00000304621ENST00000269228TTC39Cchr1821663045-NPC1chr1821153538-0.0002278960.99977213
ENST00000317571ENST00000269228TTC39Cchr1821663045-NPC1chr1821153538-0.000323720.99967635

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Fusion Genomic Features for TTC39C-NPC1


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)

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.

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Fusion Protein Features for TTC39C-NPC1


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/chr18:21663045/chr18:21153538)
- 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
.NPC1

NPC1L1

FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.1359

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
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000304621-61419_25267523.0Compositional biasNote=Poly-Ala
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000317571-61419_25328584.0Compositional biasNote=Poly-Ala
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025249_259191279.0Compositional biasNote=Poly-Pro
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025620_785191279.0DomainSSD
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025175_205191279.0RegionNote=Important for cholesterol binding and cholesterol transfer from NPC1 to liposomes
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251119_1124191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251146_1150191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251172_1194191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251216_1223191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251245_1278191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST0000026922802523_261191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025283_350191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025372_620191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025642_653191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025676_685191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025707_730191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025752_759191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025784_832191279.0Topological domainCytoplasmic
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025854_1097191279.0Topological domainLumenal
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251098_1118191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251125_1145191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251151_1171191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251195_1215191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST000002692280251224_1244191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025262_282191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025351_371191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025621_641191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025654_675191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025686_706191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025731_751191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025760_783191279.0TransmembraneHelical
TgeneNPC1chr18:21663045chr18:21153538ENST00000269228025833_853191279.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000584250-1219_25077.0Compositional biasNote=Poly-Ala
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000304621-614315_348267523.0RepeatNote=TPR 1
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000304621-614353_386267523.0RepeatNote=TPR 2
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000304621-614485_518267523.0RepeatNote=TPR 3
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000317571-614315_348328584.0RepeatNote=TPR 1
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000317571-614353_386328584.0RepeatNote=TPR 2
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000317571-614485_518328584.0RepeatNote=TPR 3
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000584250-12315_348077.0RepeatNote=TPR 1
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000584250-12353_386077.0RepeatNote=TPR 2
HgeneTTC39Cchr18:21663045chr18:21153538ENST00000584250-12485_518077.0RepeatNote=TPR 3


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Fusion Gene Sequence for TTC39C-NPC1


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.
>95046_95046_1_TTC39C-NPC1_TTC39C_chr18_21663045_ENST00000304621_NPC1_chr18_21153538_ENST00000269228_length(transcript)=5628nt_BP=1083nt
AATCATGCTTACGCATATAGGTTAACCACAGTTATGTAAGCAGGTTCTGAGAAAAGGTGAGAAAGAGAATGGAGAGTTTTGCTACAACAG
AGGCAGGATTCTGAATTTATTTCCAGCTGCCCATCTTGTCCCTCCTGGAGACCTAACCCCTCCAGCACCTACACACACAGCCTCTTTAGA
AGCAACTATCCTGCCACTGGCTCAGAAAGGCTGAGTCCTAAGAATTCTAAAATCTTGCTCCTAAGAAATCTCAAGCTTCTTTTGTGAAAT
CATAGCCCACTAATGAGTTTTGGAGCCAGCTTTGTCAGTTTTTTGAATGCCATGATGACATTTGAGGAAGAAAAAATGCAGTTGGCATGT
GATGACTTAAAAACCACAGAAAAACTGTGTGAAAGTGAAGAGGCTGGAGTAATTGAAACAATCAAGAATAAAATTAAGAAGAACGTTGAT
GTCCGAAAATCCGCCCCCTCTATGGTTGATCGGCTTCAGAGGCAGATAATCATAGCTGACTGCCAGGTTTACCTGGCTGTGCTTTCATTT
GTAAAACAAGAATTGTCAGCTTATATCAAAGGTGGGTGGATCCTTAGGAAAGCCTGGAAGATTTACAATAAATGCTATCTGGACATCAAT
GCCCTTCAGGAGCTGTATCAGAAGAAGCTAACTGAAGAGTCCTTGACTTCTGATGCTGCAAATGATAATCACATTGTGGCTGAAGGGGTG
TCTGAGGAGTCTCTGAACAGACTGAAAGGTGCTGTTAGCTTTGGATATGGCCTTTTTCACCTTTGCATATCCATGGTGCCCCCAAACCTG
CTCAAAATCATCAACCTGCTGGGTTTTCCTGGAGACCGCCTACAGGGGCTTTCTTCACTGATGTATGCAAGCGAAAGTAAGGACATGAAG
GCCCCTTTAGCTACATTAGCTCTGCTCTGGTATCATACTGTAGTCCGCCCGTTTTTTGCCTTGGATGGCAGTGATAACAAGGCAGGCCTG
GATGAAGCTAAGGAAATTCTCCTTAAAAAAGAAGCTGCTTATCCAAATTCTTCCCTCTTTATGTTTTTCAAGGGACGGATACAACGACTA
GAGGTGTTTTCACAGTCCTGTGTTTGGTATGGAGAGTGTGGAATTGCATATGGGGACAAGAGGTACAATTGCGAATATTCTGGCCCACCA
AAACCATTGCCAAAGGATGGATATGACTTAGTGCAGGAACTCTGTCCAGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGG
CAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTACAGTTTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTT
TGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATGTTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAA
ACAAATGTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTGCCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGT
AATGACAAGGCCCTGGGACTCCTGTGTGGGAAGGACGCTGACGCCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAAT
GGACAGGCACCTTTTACCATCACTCCTGTGTTTTCAGATTTTCCAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGAC
GAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACTGCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCT
CCCTGGACGATCCTTGGCTTGGACGCCATGTATGTCATCATGTGGATCACCTACATGGCGTTTTTGCTTGTGTTTTTTGGAGCATTTTTT
GCAGTGTGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACACTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCAAGTGACAAA
GGAGAGGCGTCCTGCTGTGACCCTGTCAGCGCAGCATTTGAGGGCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGA
AACCCTGGCTGTGTCATTTTCTTCTCGCTGGTCTTCATTACTGCGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGTT
GACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAGAGTACTTTGACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTC
ATCATCCGGGCCCCTCTCACTGACAAACACATTTACCAGCCATACCCTTCGGGAGCTGATGTACCCTTTGGACCTCCGCTTGACATACAG
ATACTGCACCAGGTTCTTGACTTACAAATAGCCATCGAAAACATTACTGCCTCTTATGACAATGAGACTGTGACACTTCAAGACATCTGC
TTGGCCCCTCTTTCACCGTATAACACGAACTGCACCATTTTGAGTGTGTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAG
AAAGGGGACGACTTCTTTGTGTATGCCGATTACCACACGCACTTTCTGTACTGCGTACGGGCTCCTGCCTCTCTGAATGATACAAGTTTG
CTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCCCGTGGCTTGTGTTGGGAGGCTATGATGATCAAAACTACAATAACGCC
ACTGCCCTTGTGATTACCTTCCCTGTCAATAATTACTATAATGATACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATT
AATTTTGTGAAAAACTACAAGAATCCCAATCTGACCATTTCCTTCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGAC
AGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTCTATATATTTCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTT
CTGGTGGATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGATCGTGCTGAGCTCGGTGGCTTGCTCCTTGGGTGTCTTCAGCTACATT
GGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCCTGGTGCTGGCTGTTGGAGTGGACAACATCTTCATTCTGGTGCAGGCC
TACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGCAGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCA
TCCTTTTCTGAGACTGTAGCATTTTTCTTAGGAGCATTGTCCGTGATGCCAGCCGTGCACACCTTCTCTCTCTTTGCGGGATTGGCAGTC
TTCATTGACTTTCTTCTGCAGATTACCTGTTTCGTGAGTCTCTTGGGGTTAGACATTAAACGTCAAGAGAAAAATCGGCTAGACATCTTT
TGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCTCAGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCTATTCTCCACTT
CTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTGTGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATATT
GGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGGTGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCT
GTGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCAAGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCC
CTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATACCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGAC
TGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCACTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGC
TGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGGGAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAAC
CCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAGTTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAGCCACGTACTTC
ATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTGACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACC
ATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTGTGTTTTATGTCTTCTACGAACAGTACCTGACCATCATTGACGACACT
ATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGACCATGGTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGT
GCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGTGGCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTG
ATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCAGAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAA
GAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCACACTTACAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCT
CAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGGTCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGTCTTACTC
AGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCACTGAAGAGCGATACAAAGGAACAGAGCGCGAACGGCTTCTAAATTTC
TAGCCCTCTCGCAGGGCATCCTGACTGAACTGTGTCTAAGGGTCGGTCGGTTTACCACTGGACGGGTGCTGCATCGGCAAGGCCAAGTTG
AACACCGGATGGTGCCAACCATCGGTTGTTTGGCAGCAGCTTTGAACGTAGCGCCTGTGAACTCAGGAATGCACAGTTGACTTGGGAAGC
AGTATTACTAGATCTGGAGGCAACCACAGGACACTAAACTTCTCCCAGCCTCTTCAGGAAAGAAACCTCATTCTTTGGCAAGCAGGAGGT
GACACTAGATGGCTGTGAATGTGATCCGCTCACTGACACTCTGTAAAGGCCAATCAATGCACTGTCTGTCTCTCCTTTTAGGAGTAAGCC
ATCCCACAAGTTCTATACCATATTTTTAGTGACAGTTGAGGTTGTAGATACACTTTATAACATTTTATAGTTTAAAGAGCTTTATTAATG
CAATAAATTAACTTTGTACACATTTTTATATAAAAAAACAGCAAGTGATTTCAGAATGTTGTAGGCCTCATTAGAGCTTGGTCTCCAAAA
ATCTGTTTGAAAAAAGCAACATGTTCTTCACAGTGTTCCCCTAGAAAGGAAGAGATTTAATTGCCAGTTAGATGTGGCATGAAATGAGGG
ACAAAGAAAGCATCTCGTAGGTGTGTCTACTGGGTTTTAACTTATTTTTCTTTAATAAAATACATTGTTTTCCTAAGTTTTGGGGTTACC

>95046_95046_1_TTC39C-NPC1_TTC39C_chr18_21663045_ENST00000304621_NPC1_chr18_21153538_ENST00000269228_length(amino acids)=1526AA_BP=265
MSFGASFVSFLNAMMTFEEEKMQLACDDLKTTEKLCESEEAGVIETIKNKIKKNVDVRKSAPSMVDRLQRQIIIADCQVYLAVLSFVKQE
LSAYIKGGWILRKAWKIYNKCYLDINALQELYQKKLTEESLTSDAANDNHIVAEGVSEESLNRLKGAVSFGYGLFHLCISMVPPNLLKII
NLLGFPGDRLQGLSSLMYASESKDMKAPLATLALLWYHTVVRPFFALDGSDNKAGLDEAKEILLKKEAAYPNSSLFMFFKGRIQRLEVFS
QSCVWYGECGIAYGDKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELT
CSPRQSQFLNVTATEDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAP
FTITPVFSDFPVHGMEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWC
YRKRYFVSEYTPIDSNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWS
APSSQARLEKEYFDQHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPL
SPYNTNCTILSVLNYFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALV
ITFPVNNYYNDTEKLQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDS
KVSLGIAGILIVLSSVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSE
TVAFFLGALSVMPAVHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKD
WMRPIVIAIFVGVLSFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQ
IFNAAQLDNYTRIGFAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCG
KGGHAAYSSAVNILLGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNL
GVSLGAIFLVTMVLLGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALA

--------------------------------------------------------------
>95046_95046_2_TTC39C-NPC1_TTC39C_chr18_21663045_ENST00000317571_NPC1_chr18_21153538_ENST00000269228_length(transcript)=5765nt_BP=1220nt
TGAGTAATCCCCGCGGCGGCGGCCGGACGCCCACCTCCCACGCCGCGCCGCAGCCGGGCCGCGGCTCCTCCCTCCGCGGTCCTTCCCTCC
TCTTCCCTCCCGTCTTCTCCCCTCCCCTCCCCTCCCCTCCCGGCTCCGCTTGGCTCCGGGCAGGTAGAGCCGGGCTCCGGGCGCGCGCGG
GGCCGCAGCAGCTGCTCCCGATCTCGCCTCGGCCCAGCGCAGGGCCTCGCACGCCCATGGCCGGCTCGGAGCAGCAGCGGCCGCGGCGGC
GGGACGACGGAGACTCGGACGCGGCAGCGGCGGCGGCGGCGCCCCTGCAGGACGCGGAGCTGGCCCTGGCCGGCATCAACATGCTGCTCA
ACAACGGCTTCAGGGAGTCGGACCAGCTTTTCAAACAATACAGAAATCATAGCCCACTAATGAGTTTTGGAGCCAGCTTTGTCAGTTTTT
TGAATGCCATGATGACATTTGAGGAAGAAAAAATGCAGTTGGCATGTGATGACTTAAAAACCACAGAAAAACTGTGTGAAAGTGAAGAGG
CTGGAGTAATTGAAACAATCAAGAATAAAATTAAGAAGAACGTTGATGTCCGAAAATCCGCCCCCTCTATGGTTGATCGGCTTCAGAGGC
AGATAATCATAGCTGACTGCCAGGTTTACCTGGCTGTGCTTTCATTTGTAAAACAAGAATTGTCAGCTTATATCAAAGGTGGGTGGATCC
TTAGGAAAGCCTGGAAGATTTACAATAAATGCTATCTGGACATCAATGCCCTTCAGGAGCTGTATCAGAAGAAGCTAACTGAAGAGTCCT
TGACTTCTGATGCTGCAAATGATAATCACATTGTGGCTGAAGGGGTGTCTGAGGAGTCTCTGAACAGACTGAAAGGTGCTGTTAGCTTTG
GATATGGCCTTTTTCACCTTTGCATATCCATGGTGCCCCCAAACCTGCTCAAAATCATCAACCTGCTGGGTTTTCCTGGAGACCGCCTAC
AGGGGCTTTCTTCACTGATGTATGCAAGCGAAAGTAAGGACATGAAGGCCCCTTTAGCTACATTAGCTCTGCTCTGGTATCATACTGTAG
TCCGCCCGTTTTTTGCCTTGGATGGCAGTGATAACAAGGCAGGCCTGGATGAAGCTAAGGAAATTCTCCTTAAAAAAGAAGCTGCTTATC
CAAATTCTTCCCTCTTTATGTTTTTCAAGGGACGGATACAACGACTAGAGGTGTTTTCACAGTCCTGTGTTTGGTATGGAGAGTGTGGAA
TTGCATATGGGGACAAGAGGTACAATTGCGAATATTCTGGCCCACCAAAACCATTGCCAAAGGATGGATATGACTTAGTGCAGGAACTCT
GTCCAGGATTCTTCTTTGGCAATGTCAGTCTCTGTTGTGATGTTCGGCAGCTTCAGACACTAAAAGACAACCTGCAGCTGCCTCTACAGT
TTCTGTCCAGATGTCCATCCTGTTTTTATAACCTACTGAACCTGTTTTGTGAGCTGACATGTAGCCCTCGACAGAGTCAGTTTTTGAATG
TTACAGCTACTGAAGATTATGTTGATCCTGTTACAAACCAGACGAAAACAAATGTGAAAGAGTTACAATACTACGTCGGACAGAGTTTTG
CCAATGCAATGTACAATGCCTGCCGGGATGTGGAGGCCCCCTCAAGTAATGACAAGGCCCTGGGACTCCTGTGTGGGAAGGACGCTGACG
CCTGTAATGCCACCAACTGGATTGAATACATGTTCAATAAGGACAATGGACAGGCACCTTTTACCATCACTCCTGTGTTTTCAGATTTTC
CAGTCCATGGGATGGAGCCCATGAACAATGCCACCAAAGGCTGTGACGAGTCTGTGGATGAGGTCACAGCACCATGTAGCTGCCAAGACT
GCTCTATTGTCTGTGGCCCCAAGCCCCAGCCCCCACCTCCTCCTGCTCCCTGGACGATCCTTGGCTTGGACGCCATGTATGTCATCATGT
GGATCACCTACATGGCGTTTTTGCTTGTGTTTTTTGGAGCATTTTTTGCAGTGTGGTGCTACAGAAAACGGTATTTTGTCTCCGAGTACA
CTCCCATCGATAGCAATATAGCTTTTTCTGTTAATGCAAGTGACAAAGGAGAGGCGTCCTGCTGTGACCCTGTCAGCGCAGCATTTGAGG
GCTGCTTGAGGCGGCTGTTCACACGCTGGGGGTCTTTCTGCGTCCGAAACCCTGGCTGTGTCATTTTCTTCTCGCTGGTCTTCATTACTG
CGTGTTCGTCAGGCCTGGTGTTTGTCCGGGTCACAACCAATCCAGTTGACCTCTGGTCAGCCCCCAGCAGCCAGGCTCGCCTGGAAAAAG
AGTACTTTGACCAGCACTTTGGGCCTTTCTTCCGGACGGAGCAGCTCATCATCCGGGCCCCTCTCACTGACAAACACATTTACCAGCCAT
ACCCTTCGGGAGCTGATGTACCCTTTGGACCTCCGCTTGACATACAGATACTGCACCAGGTTCTTGACTTACAAATAGCCATCGAAAACA
TTACTGCCTCTTATGACAATGAGACTGTGACACTTCAAGACATCTGCTTGGCCCCTCTTTCACCGTATAACACGAACTGCACCATTTTGA
GTGTGTTAAATTACTTCCAGAACAGCCATTCCGTGCTGGACCACAAGAAAGGGGACGACTTCTTTGTGTATGCCGATTACCACACGCACT
TTCTGTACTGCGTACGGGCTCCTGCCTCTCTGAATGATACAAGTTTGCTCCATGACCCTTGTCTGGGTACGTTTGGTGGACCAGTGTTCC
CGTGGCTTGTGTTGGGAGGCTATGATGATCAAAACTACAATAACGCCACTGCCCTTGTGATTACCTTCCCTGTCAATAATTACTATAATG
ATACAGAGAAGCTCCAGAGGGCCCAGGCCTGGGAAAAAGAGTTTATTAATTTTGTGAAAAACTACAAGAATCCCAATCTGACCATTTCCT
TCACTGCTGAACGAAGTATTGAAGATGAACTAAATCGTGAAAGTGACAGTGATGTCTTCACCGTTGTAATTAGCTATGCCATCATGTTTC
TATATATTTCCCTAGCCTTGGGGCACATGAAAAGCTGTCGCAGGCTTCTGGTGGATTCGAAGGTCTCACTAGGCATCGCGGGCATCTTGA
TCGTGCTGAGCTCGGTGGCTTGCTCCTTGGGTGTCTTCAGCTACATTGGGTTGCCCTTGACCCTCATTGTGATTGAAGTCATCCCGTTCC
TGGTGCTGGCTGTTGGAGTGGACAACATCTTCATTCTGGTGCAGGCCTACCAGAGAGATGAACGTCTTCAAGGGGAAACCCTGGATCAGC
AGCTGGGCAGGGTCCTAGGAGAAGTGGCTCCCAGTATGTTCCTGTCATCCTTTTCTGAGACTGTAGCATTTTTCTTAGGAGCATTGTCCG
TGATGCCAGCCGTGCACACCTTCTCTCTCTTTGCGGGATTGGCAGTCTTCATTGACTTTCTTCTGCAGATTACCTGTTTCGTGAGTCTCT
TGGGGTTAGACATTAAACGTCAAGAGAAAAATCGGCTAGACATCTTTTGCTGTGTCAGAGGTGCTGAAGATGGAACAAGCGTCCAGGCCT
CAGAGAGCTGTTTGTTTCGCTTCTTCAAAAACTCCTATTCTCCACTTCTGCTAAAGGACTGGATGAGACCAATTGTGATAGCAATATTTG
TGGGTGTTCTGTCATTCAGCATCGCAGTCCTGAACAAAGTAGATATTGGATTGGATCAGTCTCTTTCGATGCCAGATGACTCCTACATGG
TGGATTATTTCAAATCCATCAGTCAGTACCTGCATGCGGGTCCGCCTGTGTACTTTGTCCTGGAGGAAGGGCACGACTACACTTCTTCCA
AGGGGCAGAACATGGTGTGCGGCGGCATGGGCTGCAACAATGATTCCCTGGTGCAGCAGATATTTAACGCGGCGCAGCTGGACAACTATA
CCCGAATAGGCTTCGCCCCCTCGTCCTGGATCGACGATTATTTCGACTGGGTGAAGCCACAGTCGTCTTGCTGTCGAGTGGACAATATCA
CTGACCAGTTCTGCAATGCTTCAGTGGTTGACCCTGCCTGCGTTCGCTGCAGGCCTCTGACTCCGGAAGGCAAACAGAGGCCTCAGGGGG
GAGACTTCATGAGATTCCTGCCCATGTTCCTTTCGGATAACCCTAACCCCAAGTGTGGCAAAGGGGGACATGCTGCCTATAGTTCTGCAG
TTAACATCCTCCTTGGCCATGGCACCAGGGTCGGAGCCACGTACTTCATGACCTACCACACCGTGCTGCAGACCTCTGCTGACTTTATTG
ACGCTCTGAAGAAAGCCCGACTTATAGCCAGTAATGTCACCGAAACCATGGGCATTAACGGCAGTGCCTACCGAGTATTTCCTTACAGTG
TGTTTTATGTCTTCTACGAACAGTACCTGACCATCATTGACGACACTATCTTCAACCTCGGTGTGTCCCTGGGCGCGATATTTCTGGTGA
CCATGGTCCTCCTGGGCTGTGAGCTCTGGTCTGCAGTCATCATGTGTGCCACCATCGCCATGGTCTTGGTCAACATGTTTGGAGTTATGT
GGCTCTGGGGCATCAGTCTGAACGCTGTATCCTTGGTCAACCTGGTGATGAGCTGTGGCATCTCCGTGGAGTTCTGCAGCCACATAACCA
GAGCGTTCACGGTGAGCATGAAAGGCAGCCGCGTGGAGCGCGCGGAAGAGGCACTTGCCCACATGGGCAGCTCCGTGTTCAGTGGAATCA
CACTTACAAAATTTGGAGGGATTGTGGTGTTGGCTTTTGCCAAATCTCAAATTTTCCAGATATTCTACTTCAGGATGTATTTGGCCATGG
TCTTACTGGGAGCCACTCACGGATTAATATTTCTCCCTGTCTTACTCAGTTACATAGGGCCATCAGTAAATAAAGCCAAAAGTTGTGCCA
CTGAAGAGCGATACAAAGGAACAGAGCGCGAACGGCTTCTAAATTTCTAGCCCTCTCGCAGGGCATCCTGACTGAACTGTGTCTAAGGGT
CGGTCGGTTTACCACTGGACGGGTGCTGCATCGGCAAGGCCAAGTTGAACACCGGATGGTGCCAACCATCGGTTGTTTGGCAGCAGCTTT
GAACGTAGCGCCTGTGAACTCAGGAATGCACAGTTGACTTGGGAAGCAGTATTACTAGATCTGGAGGCAACCACAGGACACTAAACTTCT
CCCAGCCTCTTCAGGAAAGAAACCTCATTCTTTGGCAAGCAGGAGGTGACACTAGATGGCTGTGAATGTGATCCGCTCACTGACACTCTG
TAAAGGCCAATCAATGCACTGTCTGTCTCTCCTTTTAGGAGTAAGCCATCCCACAAGTTCTATACCATATTTTTAGTGACAGTTGAGGTT
GTAGATACACTTTATAACATTTTATAGTTTAAAGAGCTTTATTAATGCAATAAATTAACTTTGTACACATTTTTATATAAAAAAACAGCA
AGTGATTTCAGAATGTTGTAGGCCTCATTAGAGCTTGGTCTCCAAAAATCTGTTTGAAAAAAGCAACATGTTCTTCACAGTGTTCCCCTA
GAAAGGAAGAGATTTAATTGCCAGTTAGATGTGGCATGAAATGAGGGACAAAGAAAGCATCTCGTAGGTGTGTCTACTGGGTTTTAACTT
ATTTTTCTTTAATAAAATACATTGTTTTCCTAAGTTTTGGGGTTACCCTATCTGCTTTGAGAGACAAATACAAAAGCTAAATGGAAGAGA

>95046_95046_2_TTC39C-NPC1_TTC39C_chr18_21663045_ENST00000317571_NPC1_chr18_21153538_ENST00000269228_length(amino acids)=1602AA_BP=341
MLPISPRPSAGPRTPMAGSEQQRPRRRDDGDSDAAAAAAAPLQDAELALAGINMLLNNGFRESDQLFKQYRNHSPLMSFGASFVSFLNAM
MTFEEEKMQLACDDLKTTEKLCESEEAGVIETIKNKIKKNVDVRKSAPSMVDRLQRQIIIADCQVYLAVLSFVKQELSAYIKGGWILRKA
WKIYNKCYLDINALQELYQKKLTEESLTSDAANDNHIVAEGVSEESLNRLKGAVSFGYGLFHLCISMVPPNLLKIINLLGFPGDRLQGLS
SLMYASESKDMKAPLATLALLWYHTVVRPFFALDGSDNKAGLDEAKEILLKKEAAYPNSSLFMFFKGRIQRLEVFSQSCVWYGECGIAYG
DKRYNCEYSGPPKPLPKDGYDLVQELCPGFFFGNVSLCCDVRQLQTLKDNLQLPLQFLSRCPSCFYNLLNLFCELTCSPRQSQFLNVTAT
EDYVDPVTNQTKTNVKELQYYVGQSFANAMYNACRDVEAPSSNDKALGLLCGKDADACNATNWIEYMFNKDNGQAPFTITPVFSDFPVHG
MEPMNNATKGCDESVDEVTAPCSCQDCSIVCGPKPQPPPPPAPWTILGLDAMYVIMWITYMAFLLVFFGAFFAVWCYRKRYFVSEYTPID
SNIAFSVNASDKGEASCCDPVSAAFEGCLRRLFTRWGSFCVRNPGCVIFFSLVFITACSSGLVFVRVTTNPVDLWSAPSSQARLEKEYFD
QHFGPFFRTEQLIIRAPLTDKHIYQPYPSGADVPFGPPLDIQILHQVLDLQIAIENITASYDNETVTLQDICLAPLSPYNTNCTILSVLN
YFQNSHSVLDHKKGDDFFVYADYHTHFLYCVRAPASLNDTSLLHDPCLGTFGGPVFPWLVLGGYDDQNYNNATALVITFPVNNYYNDTEK
LQRAQAWEKEFINFVKNYKNPNLTISFTAERSIEDELNRESDSDVFTVVISYAIMFLYISLALGHMKSCRRLLVDSKVSLGIAGILIVLS
SVACSLGVFSYIGLPLTLIVIEVIPFLVLAVGVDNIFILVQAYQRDERLQGETLDQQLGRVLGEVAPSMFLSSFSETVAFFLGALSVMPA
VHTFSLFAGLAVFIDFLLQITCFVSLLGLDIKRQEKNRLDIFCCVRGAEDGTSVQASESCLFRFFKNSYSPLLLKDWMRPIVIAIFVGVL
SFSIAVLNKVDIGLDQSLSMPDDSYMVDYFKSISQYLHAGPPVYFVLEEGHDYTSSKGQNMVCGGMGCNNDSLVQQIFNAAQLDNYTRIG
FAPSSWIDDYFDWVKPQSSCCRVDNITDQFCNASVVDPACVRCRPLTPEGKQRPQGGDFMRFLPMFLSDNPNPKCGKGGHAAYSSAVNIL
LGHGTRVGATYFMTYHTVLQTSADFIDALKKARLIASNVTETMGINGSAYRVFPYSVFYVFYEQYLTIIDDTIFNLGVSLGAIFLVTMVL
LGCELWSAVIMCATIAMVLVNMFGVMWLWGISLNAVSLVNLVMSCGISVEFCSHITRAFTVSMKGSRVERAEEALAHMGSSVFSGITLTK

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Fusion Gene PPI Analysis for TTC39C-NPC1


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 TTC39C-NPC1


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 TTC39C-NPC1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource