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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:HELZ-PITPNC1 (FusionGDB2 ID:36102)

Fusion Gene Summary for HELZ-PITPNC1

check button Fusion gene summary
Fusion gene informationFusion gene name: HELZ-PITPNC1
Fusion gene ID: 36102
HgeneTgene
Gene symbol

HELZ

PITPNC1

Gene ID

9931

26207

Gene namehelicase with zinc fingerphosphatidylinositol transfer protein cytoplasmic 1
SynonymsDHRC|DRHC|HUMORF5M-RDGB-beta|MRDGBbeta|RDGB-BETA|RDGBB|RDGBB1
Cytomap

17q24.2

17q24.2

Type of geneprotein-codingprotein-coding
Descriptionprobable helicase with zinc finger domaindown-regulated in human cancers proteinhelicase with zinc finger domaincytoplasmic phosphatidylinositol transfer protein 1M-rdgB betamammalian rdgB homolog betaretinal degeneration B beta 1retinal degeneration B homolog beta
Modification date2020031320200313
UniProtAcc

P42694

.
Ensembl transtripts involved in fusion geneENST00000358691, ENST00000580168, 
ENST00000580662, 
ENST00000335257, 
ENST00000580974, ENST00000581322, 
ENST00000299954, 
Fusion gene scores* DoF score22 X 22 X 9=435631 X 22 X 12=8184
# samples 2452
** MAII scorelog2(24/4356*10)=-4.18189764310839
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(52/8184*10)=-3.97622261671687
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HELZ [Title/Abstract] AND PITPNC1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHELZ(65103285)-PITPNC1(65688688), # samples:2
Anticipated loss of major functional domain due to fusion event.HELZ-PITPNC1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
HELZ-PITPNC1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
TgenePITPNC1

GO:0015914

phospholipid transport

22822086


check buttonFusion gene breakpoints across HELZ (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 PITPNC1 (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
ChimerDB4BRCATCGA-E2-A1B5-01AHELZchr17

65103285

-PITPNC1chr17

65688688

+
ChiTaRS5.0N/AAA653776HELZchr17

65170711

+PITPNC1chr17

65377239

+


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Fusion Gene ORF analysis for HELZ-PITPNC1

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
Frame-shiftENST00000358691ENST00000335257HELZchr17

65103285

-PITPNC1chr17

65688688

+
Frame-shiftENST00000358691ENST00000580974HELZchr17

65103285

-PITPNC1chr17

65688688

+
Frame-shiftENST00000358691ENST00000581322HELZchr17

65103285

-PITPNC1chr17

65688688

+
Frame-shiftENST00000580168ENST00000335257HELZchr17

65103285

-PITPNC1chr17

65688688

+
Frame-shiftENST00000580168ENST00000580974HELZchr17

65103285

-PITPNC1chr17

65688688

+
Frame-shiftENST00000580168ENST00000581322HELZchr17

65103285

-PITPNC1chr17

65688688

+
In-frameENST00000358691ENST00000299954HELZchr17

65103285

-PITPNC1chr17

65688688

+
In-frameENST00000580168ENST00000299954HELZchr17

65103285

-PITPNC1chr17

65688688

+
intron-3CDSENST00000580662ENST00000299954HELZchr17

65103285

-PITPNC1chr17

65688688

+
intron-3CDSENST00000580662ENST00000335257HELZchr17

65103285

-PITPNC1chr17

65688688

+
intron-3CDSENST00000580662ENST00000580974HELZchr17

65103285

-PITPNC1chr17

65688688

+
intron-3CDSENST00000580662ENST00000581322HELZchr17

65103285

-PITPNC1chr17

65688688

+
intron-intronENST00000358691ENST00000299954HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000358691ENST00000335257HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000358691ENST00000580974HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000358691ENST00000581322HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580168ENST00000299954HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580168ENST00000335257HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580168ENST00000580974HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580168ENST00000581322HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580662ENST00000299954HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580662ENST00000335257HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580662ENST00000580974HELZchr17

65170711

+PITPNC1chr17

65377239

+
intron-intronENST00000580662ENST00000581322HELZchr17

65170711

+PITPNC1chr17

65377239

+

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)
ENST00000358691HELZchr1765103285-ENST00000299954PITPNC1chr1765688688+6366540816754131748
ENST00000580168HELZchr1765103285-ENST00000299954PITPNC1chr1765688688+6369541116754161749

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
ENST00000358691ENST00000299954HELZchr1765103285-PITPNC1chr1765688688+0.0010221830.9989779
ENST00000580168ENST00000299954HELZchr1765103285-PITPNC1chr1765688688+0.0010473810.9989526

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Fusion Genomic Features for HELZ-PITPNC1


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)
HELZchr1765103284-PITPNC1chr1765688687+1.08E-081
HELZchr1765103284-PITPNC1chr1765688687+1.08E-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 HELZ-PITPNC1


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/chr17:65103285/chr17:65688688)
- 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
HELZ

P42694

.
FUNCTION: May act as a helicase that plays a role in RNA metabolism in multiple tissues and organs within the developing embryo.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}.

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
HgeneHELZchr17:65103285chr17:65688688ENST00000358691-3133794_79717471943.0MotifNote=DEAA box
HgeneHELZchr17:65103285chr17:65688688ENST00000358691-3133668_67517471943.0Nucleotide bindingATP
HgeneHELZchr17:65103285chr17:65688688ENST00000358691-3133178_20617471943.0Zinc fingerC3H1-type

- 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 HELZ-PITPNC1


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.
>36102_36102_1_HELZ-PITPNC1_HELZ_chr17_65103285_ENST00000358691_PITPNC1_chr17_65688688_ENST00000299954_length(transcript)=6366nt_BP=5408nt
CAAGTGGATCCAAGATGGCGTAGAAAGTAATGACAGGATTTGGATGAAGTAATGGATCACTAATGAACTACAGTGCTGGTGAGATGTGTA
AGAAATTATAAAGAGCTCTGATGGGCTATTTGGGTGATACCCAGTGCAGTGAACTGCAGGATTTTTGTCCCTGAGTCATGGAAGACAGAA
GAGCTGAAAAGTCATGTGAACAAGCATGTGAATCACTTAAGAGGCAGGACTATGAAATGGCCCTCAAGCACTGCACAGAGGCCCTTCTTT
CTCTTGGCCAGTACTCCATGGCAGACTTCACAGGGCCTTGTCCATTGGAAATAGAACGCATCAAAATCGAGAGTCTTCTCTACAGAATTG
CCTCATTTTTGCAACTGAAAAATTATGTGCAAGCTGATGAAGATTGTAGACATGTGCTGGGAGAAGGACTGGCCAAGGGAGAAGATGCCT
TTCGGGCAGTGCTTTGCTGCATGCAGCTGAAAGGGAAGCTCCAACCTGTATCCACCATTCTTGCCAAGTCACTCACAGGAGAGTCCCTGA
ATGGGATGGTAACAAAGGATTTGACAAGACTAAAAACACTTCTCTCAGAAACAGAGACAGCAACTAGTAACGCCCTCTCTGGATATCACG
TGGAAGACTTAGATGAGGGGTCTTGTAATGGTTGGCATTTCCGCCCACCACCTAGGGGAATCACAAGCAGCGAGGAATATACTTTGTGTA
AAAGATTTTTAGAACAAGGAATCTGTAGGTATGGTGCCCAGTGTACTTCAGCACATTCCCAGGAAGAACTAGCAGAATGGCAGAAAAGAT
ATGCTTCACGGCTGATAAAATTGAAACAGCAAAATGAGAATAAACAGCTCTCAGGCAGTTACATGGAAACCTTGATAGAAAAGTGGATGA
ATTCATTGTCTCCTGAGAAAGTGCTTAGTGAATGTATAGAAGGAGTAAAGGTAGAGCACAATCCTGACCTGTCAGTTACTGTCAGCACCA
AAAAATCCCACCAGACATGGACCTTTGCTCTCACTTGTAAGCCTGCAAGAATGCTGTATCGTGTAGCATTGCTTTATGATGCTCATCGTC
CTCATTTTAGTATCATTGCAATATCTGCCGGAGATAGTACTACCCAGGTATCACAAGAAGTCCCAGAAAACTGTCAAGAATGGATAGGAG
GAAAGATGGCCCAAAATGGATTAGATCATTACGTGTATAAAGTCGGGATAGCATTTAACACAGAAATATTTGGAACTTTTCGCCAAACCA
TAGTTTTCGACTTTGGATTGGAACCAGTACTCATGCAAAGAGTAATGATTGATGCAGCTTCTACAGAAGATCTCGAATACCTGATGCATG
CAAAACAGCAGCTAGTAACCACAGCTAAACGTTGGGATTCTTCCTCTAAGACTATTATAGATTTTGAACCTAATGAAACTACTGATTTGG
AGAAGAGCCTTCTTATCAGATACCAAATTCCCCTCTCTGCTGACCAGCTATTTACTCAGTCCGTTTTAGACAAATCATTGACCAAGAGCA
ACTATCAGTCACGGTTACATGACCTTCTTTATATTGAGGAGATAGCCCAGTATAAAGAAATCAGCAAGTTCAACCTTAAAGTGCAATTGC
AGATTCTGGCAAGCTTCATGCTCACTGGTGTTTCTGGAGGTGCAAAGTATGCTCAGAATGGACAACTTTTTGGTCGCTTTAAGCTTACTG
AAACACTTTCTGAAGATACTTTGGCTGGACGACTGGTGATGACCAAAGTCAATGCTGTTTATTTATTACCAGTCCCTAAACAGAAGTTAG
TACAGACCCAGGGAACCAAAGAGAAGGTTTATGAAGCTACTATTGAAGAAAAAACAAAGGAATATATATTTTTAAGGCTATCTAGGGAAT
GCTGTGAAGAACTTAATCTTCGGCCTGACTGTGACACACAGGTTGAACTTCAGTTTCAATTAAATCGATTACCCCTCTGTGAAATGCACT
ATGCACTAGACAGGATCAAGGACAATGGGGTTTTGTTTCCAGACATCAGTATGACTCCCACCATACCATGGAGTCCTAACAGACAATGGG
ATGAACAGTTGGATCCTCGACTAAATGCAAAACAGAAAGAGGCTGTTCTGGCCATTACCACTCCACTTGCAATCCAGCTGCCGCCTGTGC
TTATCATCGGACCCTATGGGACAGGCAAAACGTTCACTCTAGCTCAGGCTGTCAAACATATTCTGCAGCAACAGGAGACTAGGATTCTCA
TTTGCACCCATTCTAATAGTGCTGCTGATCTCTACATAAAGGATTATTTACATCCATATGTAGAAGCAGGCAATCCCCAGGCAAGACCTC
TCAGGGTATATTTCAGAAATCGCTGGGTAAAGACTGTCCACCCAGTTGTGCATCAGTACTGTTTGATCTCAAGCGCACATTCCACCTTTC
AGATGCCCCAGAAAGAAGATATTCTTAAACATCGAGTGGTGGTTGTTACCTTGAATACTTCCCAGTACCTCTGTCAGTTGGACCTTGAAC
CTGGGTTTTTTACACACATTCTATTAGATGAAGCTGCCCAGGCCATGGAGTGTGAAACCATTATGCCTCTAGCATTAGCAACTCAAAACA
CTCGGATTGTCTTGGCTGGTGATCACATGCAGCTCAGTCCTTTTGTTTACAGCGAGTTTGCCAGGGAGAGAAACCTTCACGTTTCATTAC
TTGACCGACTCTATGAGCATTACCCTGCTGAGTTCCCATGTAGGATTCTCCTGTGTGAGAACTACCGCTCCCATGAAGCTATCATCAATT
ATACCTCTGAGCTTTTCTATGAGGGCAAACTGATGGCCAGTGGGAAGCAGCCAGCACACAAAGATTTCTACCCACTAACTTTCTTTACAG
CACGAGGAGAAGATGTACAAGAAAAAAATAGCACAGCTTTTTATAATAATGCAGAGGTGTTTGAAGTGGTGGAACGTGTAGAAGAGTTAA
GAAGGAAGTGGCCAGTAGCGTGGGGGAAGTTAGATGATGGCAGTATTGGTGTGGTGACTCCATATGCTGATCAAGTGTTTAGAATACGTG
CTGAACTTCGAAAAAAGAGATTATCTGATGTTAATGTAGAAAGGGTGCTAAATGTTCAAGGAAAGCAATTCAGAGTTTTGTTTCTTAGCA
CAGTACGTACAAGACATACTTGTAAACATAAACAGACACCAATTAAAAAGAAAGAGCAACTTCTGGAAGATTCCACAGAGGACTTAGATT
ATGGTTTTTTATCTAACTACAAGCTTCTCAATACTGCCATCACAAGAGCACAATCCCTGGTTGCTGTGGTGGGTGATCCCATTGCTCTGT
GCTCTATTGGAAGATGCAGGAAATTTTGGGAACGGTTTATTGCCCTGTGTCATGAAAACAGTAGCCTACATGGAATCACTTTTGAACAGA
TCAAAGCCCAGTTAGAGGCTTTAGAACTAAAGAAGACATATGTGTTGAATCCGCTGGCACCTGAATTTATCCCCCGGGCTCTAAGACTGC
AGCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGGGAAAAGTCTTCATCATACCCAGAATGATCACTTCCAGAATGATG
GAATTGTTCAGCCCAATCCTTCTGTACTTATTGGCAATCCTATTAGAGCATATACTCCTCCACCCCCTCTTGGACCTCACCCAAATTTGG
GAAAATCTCCAAGCCCTGTTCAAAGAATAGATCCTCACACTGGGACAAGTATTCTTTATGTACCTGCTGTCTATGGAGGGAATGTAGTTA
TGTCGGTGCCTTTACCTGTACCATGGACAGGATACCAGGGTAGGTTTGCAGTTGATCCTCGAATTATTACACATCAGGCAGCAATGGCCT
ATAACATGAACCTATTACAGACACATGGACGAGGATCTCCTATTCCTTATGGCCTTGGACATCACCCACCTGTCACCATAGGCCAGCCAC
AAAATCAGCATCAGGAGAAGGATCAACATGAGCAAAATCGAAATGGTAAAAGTGATACAAATAATTCCGGACCTGAAATTAATAAGATTC
GAACACCAGAGAAAAAGCCAACAGAACCAAAACAGGTTGATTTGGAATCAAATCCACAGAACAGAAGTCCTGAATCACGTCCTAGTGTTG
TTTATCCCAGTACCAAATTTCCTCGCAAAGATAATCTCAACCCAAGACACATAAATCTTCCCCTTCCTGCTCCCCACGCACAGTATGCAA
TCCCTAATCGCCACTTTCATCCCCTTCCCCAGCTACCAAGACCACCCTTTCCAATTCCACAGCAGCACACCTTGTTAAATCAGCAGCAGA
ATAATTTGCCTGAACAACCAAATCAGATACCACCTCAGCCAAATCAGGTAGTCCAGCAGCAAAGTCAGTTGAATCAGCAGCCTCAGCAGC
CACCTCCTCAGCTTTCTCCTGCATATCAGGCGGGACCCAACAATGCTTTTTTTAATAGTGCAGTTGCTCATCGGCCACAGTCTCCTCCTG
CAGAAGCTGTAATTCCGGAGCAGCAGCCCCCTCCCATGCTGCAAGAAGGCCACAGTCCTCTGAGAGCCATTGCACAACCCGGCCCCATTC
TTCCTTCACATCTGAATAGCTTCATTGATGAGAACCCCTCGGGATTACCTATAGGGGAGGCTTTAGATCGTATACATGGGAGTGTCGCTC
TGGAAACATTAAGGCAGCAGCAGGCACGGTTCCAGCAGTGGAGCGAGCATCATGCCTTTCTCAGTCAGGGCAGCGCTCCATACCCACACC
ATCACCATCCTCACCTCCAGCATCTTCCTCAGCCGCCCCTGGGATTACATCAGCCGCCAGTGAGGGCAGACTGGAAGCTCACCAGCAGTG
CCGAAGATGAAGTGGAGACCACATACTCAAGGTTTCAAGACTTAATCAGAGAACTGTCTCATCGTGATCAAAGTGAAACACGGGAACTAG
CTGAAATGCCACCACCTCAATCAAGACTTTTGCAATATAGACAAGTACAGAGTAGAAGCCCACCAGCAGTCCCATCTCCCCCATCCAGTA
CAGACCACAGTAGCCACTTTTCTAACTTTAATGATAACAGCAGAGACATTGAAGTAGCCAGCAACCCAGCATTTCCACAGCGCCTCCCAC
CCCAGATATTCAACTCACCTTTCTCGTTGCCATCTGAACACCTTGCCCCTCCTCCCTTGAAATACCTGGCACCTGATGGAGCATGGACTT
TTGCTAACTTGCAACAGAATCACCTAATGGGGCCAGGTTTTCCCTATGGCCTACCTCCATTGCCTCACAGGCCACCGCAGAACCCTTTTG
TACAAATACAGAATCATCAACATGCTATTGGTCAAGAGCCATTTCACCCATTGTCATCTCGAACAGTATCTTCTTCTTCGCTCCCTAGCT
TAGAAGAGACATGACAATGGATGAAGTCCGAGAATTTGAACGAGCCACTCAGGAAGCCACCAACAAGAAAATCGGCATTTTCCCACCTGC
AATTTCTATCTCCAGCATCCCCCTGCTGCCTTCTTCCGTCCGCAGTGCGCCTTCTAGTGCTCCATCCACCCCTCTCTCCACAGACGCACC
CGAATTTCTGTCCGTTCCCAAAGATCGGCCCCGGAAAAAGTCTGCCCCAGAAACTCTCACACTTCCAGACCCTGAGAAAAAAGCCACCCT
GAATTTACCCGGCATGCACTCTTCAGATAAGCCATGTCGGCCCAAATCTGAGTAACTTTATATAAATATCTCATGGGGTTTTATATTTTC
ATTTGTTGTTGTTGTTTTTTTTTAAGAATCTTCTGATAGAGAAAAAGACTGCTTTGTCACTCAAACATGTTCCTTCGACCTTTCAGTGTG
CATGTGACTCAGTAACTTCACATAGAATATGATTCCCTAAGTATGCTACACAGCATCATATTAGATGTAAGATGTAAGACTTGCAAAGGA
CAGAAGGAATCTTCTGTAACCACATAGCTGTATGCCAGAGAGGAAGCCTTGTTATTGGGCATTTGATGAGGTTTGGCATGGACTTCAAGG
ATAAATGAATGAAAACTTTGCACCACTTTTGTTACAAGGTACGGTAGAAAATAGTGAAGTCAGTTTCCTCTCATCAAATCTAAAATTCTC
CAAAATACTCTCAGGCATAACATACTTAGCTGTTAAATTTTGAACTGCTAATTACTAATACTTGAATACCAATAGTTACTGAGATTCCTA
TTTTGTGGTTAGTCTGACTCAGGATTTGGAGCCTAATTAACTCTAAACTTTTGAAAATTTTAATCATCAAGCTATAGAGGCTCCAAGTGC

>36102_36102_1_HELZ-PITPNC1_HELZ_chr17_65103285_ENST00000358691_PITPNC1_chr17_65688688_ENST00000299954_length(amino acids)=1748AA_BP=
MEDRRAEKSCEQACESLKRQDYEMALKHCTEALLSLGQYSMADFTGPCPLEIERIKIESLLYRIASFLQLKNYVQADEDCRHVLGEGLAK
GEDAFRAVLCCMQLKGKLQPVSTILAKSLTGESLNGMVTKDLTRLKTLLSETETATSNALSGYHVEDLDEGSCNGWHFRPPPRGITSSEE
YTLCKRFLEQGICRYGAQCTSAHSQEELAEWQKRYASRLIKLKQQNENKQLSGSYMETLIEKWMNSLSPEKVLSECIEGVKVEHNPDLSV
TVSTKKSHQTWTFALTCKPARMLYRVALLYDAHRPHFSIIAISAGDSTTQVSQEVPENCQEWIGGKMAQNGLDHYVYKVGIAFNTEIFGT
FRQTIVFDFGLEPVLMQRVMIDAASTEDLEYLMHAKQQLVTTAKRWDSSSKTIIDFEPNETTDLEKSLLIRYQIPLSADQLFTQSVLDKS
LTKSNYQSRLHDLLYIEEIAQYKEISKFNLKVQLQILASFMLTGVSGGAKYAQNGQLFGRFKLTETLSEDTLAGRLVMTKVNAVYLLPVP
KQKLVQTQGTKEKVYEATIEEKTKEYIFLRLSRECCEELNLRPDCDTQVELQFQLNRLPLCEMHYALDRIKDNGVLFPDISMTPTIPWSP
NRQWDEQLDPRLNAKQKEAVLAITTPLAIQLPPVLIIGPYGTGKTFTLAQAVKHILQQQETRILICTHSNSAADLYIKDYLHPYVEAGNP
QARPLRVYFRNRWVKTVHPVVHQYCLISSAHSTFQMPQKEDILKHRVVVVTLNTSQYLCQLDLEPGFFTHILLDEAAQAMECETIMPLAL
ATQNTRIVLAGDHMQLSPFVYSEFARERNLHVSLLDRLYEHYPAEFPCRILLCENYRSHEAIINYTSELFYEGKLMASGKQPAHKDFYPL
TFFTARGEDVQEKNSTAFYNNAEVFEVVERVEELRRKWPVAWGKLDDGSIGVVTPYADQVFRIRAELRKKRLSDVNVERVLNVQGKQFRV
LFLSTVRTRHTCKHKQTPIKKKEQLLEDSTEDLDYGFLSNYKLLNTAITRAQSLVAVVGDPIALCSIGRCRKFWERFIALCHENSSLHGI
TFEQIKAQLEALELKKTYVLNPLAPEFIPRALRLQHSGSTNKQQQSPPKGKSLHHTQNDHFQNDGIVQPNPSVLIGNPIRAYTPPPPLGP
HPNLGKSPSPVQRIDPHTGTSILYVPAVYGGNVVMSVPLPVPWTGYQGRFAVDPRIITHQAAMAYNMNLLQTHGRGSPIPYGLGHHPPVT
IGQPQNQHQEKDQHEQNRNGKSDTNNSGPEINKIRTPEKKPTEPKQVDLESNPQNRSPESRPSVVYPSTKFPRKDNLNPRHINLPLPAPH
AQYAIPNRHFHPLPQLPRPPFPIPQQHTLLNQQQNNLPEQPNQIPPQPNQVVQQQSQLNQQPQQPPPQLSPAYQAGPNNAFFNSAVAHRP
QSPPAEAVIPEQQPPPMLQEGHSPLRAIAQPGPILPSHLNSFIDENPSGLPIGEALDRIHGSVALETLRQQQARFQQWSEHHAFLSQGSA
PYPHHHHPHLQHLPQPPLGLHQPPVRADWKLTSSAEDEVETTYSRFQDLIRELSHRDQSETRELAEMPPPQSRLLQYRQVQSRSPPAVPS
PPSSTDHSSHFSNFNDNSRDIEVASNPAFPQRLPPQIFNSPFSLPSEHLAPPPLKYLAPDGAWTFANLQQNHLMGPGFPYGLPPLPHRPP

--------------------------------------------------------------
>36102_36102_2_HELZ-PITPNC1_HELZ_chr17_65103285_ENST00000580168_PITPNC1_chr17_65688688_ENST00000299954_length(transcript)=6369nt_BP=5411nt
CAAGTGGATCCAAGATGGCGTAGAAAGTAATGACAGGATTTGGATGAAGTAATGGATCACTAATGAACTACAGTGCTGGTGAGATGTGTA
AGAAATTATAAAGAGCTCTGATGGGCTATTTGGGTGATACCCAGTGCAGTGAACTGCAGGATTTTTGTCCCTGAGTCATGGAAGACAGAA
GAGCTGAAAAGTCATGTGAACAAGCATGTGAATCACTTAAGAGGCAGGACTATGAAATGGCCCTCAAGCACTGCACAGAGGCCCTTCTTT
CTCTTGGCCAGTACTCCATGGCAGACTTCACAGGGCCTTGTCCATTGGAAATAGAACGCATCAAAATCGAGAGTCTTCTCTACAGAATTG
CCTCATTTTTGCAACTGAAAAATTATGTGCAAGCTGATGAAGATTGTAGACATGTGCTGGGAGAAGGACTGGCCAAGGGAGAAGATGCCT
TTCGGGCAGTGCTTTGCTGCATGCAGCTGAAAGGGAAGCTCCAACCTGTATCCACCATTCTTGCCAAGTCACTCACAGGAGAGTCCCTGA
ATGGGATGGTAACAAAGGATTTGACAAGACTAAAAACACTTCTCTCAGAAACAGAGACAGCAACTAGTAACGCCCTCTCTGGATATCACG
TGGAAGACTTAGATGAGGGGTCTTGTAATGGTTGGCATTTCCGCCCACCACCTAGGGGAATCACAAGCAGCGAGGAATATACTTTGTGTA
AAAGATTTTTAGAACAAGGAATCTGTAGGTATGGTGCCCAGTGTACTTCAGCACATTCCCAGGAAGAACTAGCAGAATGGCAGAAAAGAT
ATGCTTCACGGCTGATAAAATTGAAACAGCAAAATGAGAATAAACAGCTCTCAGGCAGTTACATGGAAACCTTGATAGAAAAGTGGATGA
ATTCATTGTCTCCTGAGAAAGTGCTTAGTGAATGTATAGAAGGAGTAAAGGTAGAGCACAATCCTGACCTGTCAGTTACTGTCAGCACCA
AAAAATCCCACCAGACATGGACCTTTGCTCTCACTTGTAAGCCTGCAAGAATGCTGTATCGTGTAGCATTGCTTTATGATGCTCATCGTC
CTCATTTTAGTATCATTGCAATATCTGCCGGAGATAGTACTACCCAGGTATCACAAGAAGTCCCAGAAAACTGTCAAGAATGGATAGGAG
GAAAGATGGCCCAAAATGGATTAGATCATTACGTGTATAAAGTCGGGATAGCATTTAACACAGAAATATTTGGAACTTTTCGCCAAACCA
TAGTTTTCGACTTTGGATTGGAACCAGTACTCATGCAAAGAGTAATGATTGATGCAGCTTCTACAGAAGATCTCGAATACCTGATGCATG
CAAAACAGCAGCTAGTAACCACAGCTAAACGTTGGGATTCTTCCTCTAAGACTATTATAGATTTTGAACCTAATGAAACTACTGATTTGG
AGAAGAGCCTTCTTATCAGATACCAAATTCCCCTCTCTGCTGACCAGCTATTTACTCAGTCCGTTTTAGACAAATCATTGACCAAGAGCA
ACTATCAGTCACGGTTACATGACCTTCTTTATATTGAGGAGATAGCCCAGTATAAAGAAATCAGCAAGTTCAACCTTAAAGTGCAATTGC
AGATTCTGGCAAGCTTCATGCTCACTGGTGTTTCTGGAGGTGCAAAGTATGCTCAGAATGGACAACTTTTTGGTCGCTTTAAGCTTACTG
AAACACTTTCTGAAGATACTTTGGCTGGACGACTGGTGATGACCAAAGTCAATGCTGTTTATTTATTACCAGTCCCTAAACAGAAGTTAG
TACAGACCCAGGGAACCAAAGAGAAGGTTTATGAAGCTACTATTGAAGAAAAAACAAAGGAATATATATTTTTAAGGCTATCTAGGGAAT
GCTGTGAAGAACTTAATCTTCGGCCTGACTGTGACACACAGGTTGAACTTCAGTTTCAATTAAATCGATTACCCCTCTGTGAAATGCACT
ATGCACTAGACAGGATCAAGGACAATGGGGTTTTGTTTCCAGACATCAGTATGACTCCCACCATACCATGGAGTCCTAACAGACAATGGG
ATGAACAGTTGGATCCTCGACTAAATGCAAAACAGAAAGAGGCTGTTCTGGCCATTACCACTCCACTTGCAATCCAGCTGCCGCCTGTGC
TTATCATCGGACCCTATGGGACAGGCAAAACGTTCACTCTAGCTCAGGCTGTCAAACATATTCTGCAGCAACAGGAGACTAGCAGGATTC
TCATTTGCACCCATTCTAATAGTGCTGCTGATCTCTACATAAAGGATTATTTACATCCATATGTAGAAGCAGGCAATCCCCAGGCAAGAC
CTCTCAGGGTATATTTCAGAAATCGCTGGGTAAAGACTGTCCACCCAGTTGTGCATCAGTACTGTTTGATCTCAAGCGCACATTCCACCT
TTCAGATGCCCCAGAAAGAAGATATTCTTAAACATCGAGTGGTGGTTGTTACCTTGAATACTTCCCAGTACCTCTGTCAGTTGGACCTTG
AACCTGGGTTTTTTACACACATTCTATTAGATGAAGCTGCCCAGGCCATGGAGTGTGAAACCATTATGCCTCTAGCATTAGCAACTCAAA
ACACTCGGATTGTCTTGGCTGGTGATCACATGCAGCTCAGTCCTTTTGTTTACAGCGAGTTTGCCAGGGAGAGAAACCTTCACGTTTCAT
TACTTGACCGACTCTATGAGCATTACCCTGCTGAGTTCCCATGTAGGATTCTCCTGTGTGAGAACTACCGCTCCCATGAAGCTATCATCA
ATTATACCTCTGAGCTTTTCTATGAGGGCAAACTGATGGCCAGTGGGAAGCAGCCAGCACACAAAGATTTCTACCCACTAACTTTCTTTA
CAGCACGAGGAGAAGATGTACAAGAAAAAAATAGCACAGCTTTTTATAATAATGCAGAGGTGTTTGAAGTGGTGGAACGTGTAGAAGAGT
TAAGAAGGAAGTGGCCAGTAGCGTGGGGGAAGTTAGATGATGGCAGTATTGGTGTGGTGACTCCATATGCTGATCAAGTGTTTAGAATAC
GTGCTGAACTTCGAAAAAAGAGATTATCTGATGTTAATGTAGAAAGGGTGCTAAATGTTCAAGGAAAGCAATTCAGAGTTTTGTTTCTTA
GCACAGTACGTACAAGACATACTTGTAAACATAAACAGACACCAATTAAAAAGAAAGAGCAACTTCTGGAAGATTCCACAGAGGACTTAG
ATTATGGTTTTTTATCTAACTACAAGCTTCTCAATACTGCCATCACAAGAGCACAATCCCTGGTTGCTGTGGTGGGTGATCCCATTGCTC
TGTGCTCTATTGGAAGATGCAGGAAATTTTGGGAACGGTTTATTGCCCTGTGTCATGAAAACAGTAGCCTACATGGAATCACTTTTGAAC
AGATCAAAGCCCAGTTAGAGGCTTTAGAACTAAAGAAGACATATGTGTTGAATCCGCTGGCACCTGAATTTATCCCCCGGGCTCTAAGAC
TGCAGCATTCAGGAAGTACCAACAAACAGCAGCAATCACCACCCAAGGGGAAAAGTCTTCATCATACCCAGAATGATCACTTCCAGAATG
ATGGAATTGTTCAGCCCAATCCTTCTGTACTTATTGGCAATCCTATTAGAGCATATACTCCTCCACCCCCTCTTGGACCTCACCCAAATT
TGGGAAAATCTCCAAGCCCTGTTCAAAGAATAGATCCTCACACTGGGACAAGTATTCTTTATGTACCTGCTGTCTATGGAGGGAATGTAG
TTATGTCGGTGCCTTTACCTGTACCATGGACAGGATACCAGGGTAGGTTTGCAGTTGATCCTCGAATTATTACACATCAGGCAGCAATGG
CCTATAACATGAACCTATTACAGACACATGGACGAGGATCTCCTATTCCTTATGGCCTTGGACATCACCCACCTGTCACCATAGGCCAGC
CACAAAATCAGCATCAGGAGAAGGATCAACATGAGCAAAATCGAAATGGTAAAAGTGATACAAATAATTCCGGACCTGAAATTAATAAGA
TTCGAACACCAGAGAAAAAGCCAACAGAACCAAAACAGGTTGATTTGGAATCAAATCCACAGAACAGAAGTCCTGAATCACGTCCTAGTG
TTGTTTATCCCAGTACCAAATTTCCTCGCAAAGATAATCTCAACCCAAGACACATAAATCTTCCCCTTCCTGCTCCCCACGCACAGTATG
CAATCCCTAATCGCCACTTTCATCCCCTTCCCCAGCTACCAAGACCACCCTTTCCAATTCCACAGCAGCACACCTTGTTAAATCAGCAGC
AGAATAATTTGCCTGAACAACCAAATCAGATACCACCTCAGCCAAATCAGGTAGTCCAGCAGCAAAGTCAGTTGAATCAGCAGCCTCAGC
AGCCACCTCCTCAGCTTTCTCCTGCATATCAGGCGGGACCCAACAATGCTTTTTTTAATAGTGCAGTTGCTCATCGGCCACAGTCTCCTC
CTGCAGAAGCTGTAATTCCGGAGCAGCAGCCCCCTCCCATGCTGCAAGAAGGCCACAGTCCTCTGAGAGCCATTGCACAACCCGGCCCCA
TTCTTCCTTCACATCTGAATAGCTTCATTGATGAGAACCCCTCGGGATTACCTATAGGGGAGGCTTTAGATCGTATACATGGGAGTGTCG
CTCTGGAAACATTAAGGCAGCAGCAGGCACGGTTCCAGCAGTGGAGCGAGCATCATGCCTTTCTCAGTCAGGGCAGCGCTCCATACCCAC
ACCATCACCATCCTCACCTCCAGCATCTTCCTCAGCCGCCCCTGGGATTACATCAGCCGCCAGTGAGGGCAGACTGGAAGCTCACCAGCA
GTGCCGAAGATGAAGTGGAGACCACATACTCAAGGTTTCAAGACTTAATCAGAGAACTGTCTCATCGTGATCAAAGTGAAACACGGGAAC
TAGCTGAAATGCCACCACCTCAATCAAGACTTTTGCAATATAGACAAGTACAGAGTAGAAGCCCACCAGCAGTCCCATCTCCCCCATCCA
GTACAGACCACAGTAGCCACTTTTCTAACTTTAATGATAACAGCAGAGACATTGAAGTAGCCAGCAACCCAGCATTTCCACAGCGCCTCC
CACCCCAGATATTCAACTCACCTTTCTCGTTGCCATCTGAACACCTTGCCCCTCCTCCCTTGAAATACCTGGCACCTGATGGAGCATGGA
CTTTTGCTAACTTGCAACAGAATCACCTAATGGGGCCAGGTTTTCCCTATGGCCTACCTCCATTGCCTCACAGGCCACCGCAGAACCCTT
TTGTACAAATACAGAATCATCAACATGCTATTGGTCAAGAGCCATTTCACCCATTGTCATCTCGAACAGTATCTTCTTCTTCGCTCCCTA
GCTTAGAAGAGACATGACAATGGATGAAGTCCGAGAATTTGAACGAGCCACTCAGGAAGCCACCAACAAGAAAATCGGCATTTTCCCACC
TGCAATTTCTATCTCCAGCATCCCCCTGCTGCCTTCTTCCGTCCGCAGTGCGCCTTCTAGTGCTCCATCCACCCCTCTCTCCACAGACGC
ACCCGAATTTCTGTCCGTTCCCAAAGATCGGCCCCGGAAAAAGTCTGCCCCAGAAACTCTCACACTTCCAGACCCTGAGAAAAAAGCCAC
CCTGAATTTACCCGGCATGCACTCTTCAGATAAGCCATGTCGGCCCAAATCTGAGTAACTTTATATAAATATCTCATGGGGTTTTATATT
TTCATTTGTTGTTGTTGTTTTTTTTTAAGAATCTTCTGATAGAGAAAAAGACTGCTTTGTCACTCAAACATGTTCCTTCGACCTTTCAGT
GTGCATGTGACTCAGTAACTTCACATAGAATATGATTCCCTAAGTATGCTACACAGCATCATATTAGATGTAAGATGTAAGACTTGCAAA
GGACAGAAGGAATCTTCTGTAACCACATAGCTGTATGCCAGAGAGGAAGCCTTGTTATTGGGCATTTGATGAGGTTTGGCATGGACTTCA
AGGATAAATGAATGAAAACTTTGCACCACTTTTGTTACAAGGTACGGTAGAAAATAGTGAAGTCAGTTTCCTCTCATCAAATCTAAAATT
CTCCAAAATACTCTCAGGCATAACATACTTAGCTGTTAAATTTTGAACTGCTAATTACTAATACTTGAATACCAATAGTTACTGAGATTC
CTATTTTGTGGTTAGTCTGACTCAGGATTTGGAGCCTAATTAACTCTAAACTTTTGAAAATTTTAATCATCAAGCTATAGAGGCTCCAAG

>36102_36102_2_HELZ-PITPNC1_HELZ_chr17_65103285_ENST00000580168_PITPNC1_chr17_65688688_ENST00000299954_length(amino acids)=1749AA_BP=
MEDRRAEKSCEQACESLKRQDYEMALKHCTEALLSLGQYSMADFTGPCPLEIERIKIESLLYRIASFLQLKNYVQADEDCRHVLGEGLAK
GEDAFRAVLCCMQLKGKLQPVSTILAKSLTGESLNGMVTKDLTRLKTLLSETETATSNALSGYHVEDLDEGSCNGWHFRPPPRGITSSEE
YTLCKRFLEQGICRYGAQCTSAHSQEELAEWQKRYASRLIKLKQQNENKQLSGSYMETLIEKWMNSLSPEKVLSECIEGVKVEHNPDLSV
TVSTKKSHQTWTFALTCKPARMLYRVALLYDAHRPHFSIIAISAGDSTTQVSQEVPENCQEWIGGKMAQNGLDHYVYKVGIAFNTEIFGT
FRQTIVFDFGLEPVLMQRVMIDAASTEDLEYLMHAKQQLVTTAKRWDSSSKTIIDFEPNETTDLEKSLLIRYQIPLSADQLFTQSVLDKS
LTKSNYQSRLHDLLYIEEIAQYKEISKFNLKVQLQILASFMLTGVSGGAKYAQNGQLFGRFKLTETLSEDTLAGRLVMTKVNAVYLLPVP
KQKLVQTQGTKEKVYEATIEEKTKEYIFLRLSRECCEELNLRPDCDTQVELQFQLNRLPLCEMHYALDRIKDNGVLFPDISMTPTIPWSP
NRQWDEQLDPRLNAKQKEAVLAITTPLAIQLPPVLIIGPYGTGKTFTLAQAVKHILQQQETSRILICTHSNSAADLYIKDYLHPYVEAGN
PQARPLRVYFRNRWVKTVHPVVHQYCLISSAHSTFQMPQKEDILKHRVVVVTLNTSQYLCQLDLEPGFFTHILLDEAAQAMECETIMPLA
LATQNTRIVLAGDHMQLSPFVYSEFARERNLHVSLLDRLYEHYPAEFPCRILLCENYRSHEAIINYTSELFYEGKLMASGKQPAHKDFYP
LTFFTARGEDVQEKNSTAFYNNAEVFEVVERVEELRRKWPVAWGKLDDGSIGVVTPYADQVFRIRAELRKKRLSDVNVERVLNVQGKQFR
VLFLSTVRTRHTCKHKQTPIKKKEQLLEDSTEDLDYGFLSNYKLLNTAITRAQSLVAVVGDPIALCSIGRCRKFWERFIALCHENSSLHG
ITFEQIKAQLEALELKKTYVLNPLAPEFIPRALRLQHSGSTNKQQQSPPKGKSLHHTQNDHFQNDGIVQPNPSVLIGNPIRAYTPPPPLG
PHPNLGKSPSPVQRIDPHTGTSILYVPAVYGGNVVMSVPLPVPWTGYQGRFAVDPRIITHQAAMAYNMNLLQTHGRGSPIPYGLGHHPPV
TIGQPQNQHQEKDQHEQNRNGKSDTNNSGPEINKIRTPEKKPTEPKQVDLESNPQNRSPESRPSVVYPSTKFPRKDNLNPRHINLPLPAP
HAQYAIPNRHFHPLPQLPRPPFPIPQQHTLLNQQQNNLPEQPNQIPPQPNQVVQQQSQLNQQPQQPPPQLSPAYQAGPNNAFFNSAVAHR
PQSPPAEAVIPEQQPPPMLQEGHSPLRAIAQPGPILPSHLNSFIDENPSGLPIGEALDRIHGSVALETLRQQQARFQQWSEHHAFLSQGS
APYPHHHHPHLQHLPQPPLGLHQPPVRADWKLTSSAEDEVETTYSRFQDLIRELSHRDQSETRELAEMPPPQSRLLQYRQVQSRSPPAVP
SPPSSTDHSSHFSNFNDNSRDIEVASNPAFPQRLPPQIFNSPFSLPSEHLAPPPLKYLAPDGAWTFANLQQNHLMGPGFPYGLPPLPHRP

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Fusion Gene PPI Analysis for HELZ-PITPNC1


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 HELZ-PITPNC1


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 HELZ-PITPNC1


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