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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:HCFC1R1-THOC6 (FusionGDB2 ID:35744)

Fusion Gene Summary for HCFC1R1-THOC6

check button Fusion gene summary
Fusion gene informationFusion gene name: HCFC1R1-THOC6
Fusion gene ID: 35744
HgeneTgene
Gene symbol

HCFC1R1

THOC6

Gene ID

54985

79228

Gene namehost cell factor C1 regulator 1THO complex 6
SynonymsHPIPWDR58|fSAP35
Cytomap

16p13.3

16p13.3

Type of geneprotein-codingprotein-coding
Descriptionhost cell factor C1 regulator 1HCF-1 beta-propeller-interacting proteinhost cell factor C1 regulator 1 (XPO1 dependent)THO complex subunit 6 homologWD repeat domain 58WD repeat-containing protein 58functional spliceosome-associated protein 35
Modification date2020032020200313
UniProtAcc

Q9NWW0

.
Ensembl transtripts involved in fusion geneENST00000248089, ENST00000354679, 
ENST00000396916, ENST00000572355, 
ENST00000574151, ENST00000574980, 
ENST00000253952, ENST00000326266, 
ENST00000574549, ENST00000575576, 
Fusion gene scores* DoF score2 X 2 X 2=85 X 5 X 4=100
# samples 25
** MAII scorelog2(2/8*10)=1.32192809488736log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: HCFC1R1 [Title/Abstract] AND THOC6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointHCFC1R1(3074094)-THOC6(3074304), # 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
TgeneTHOC6

GO:0006406

mRNA export from nucleus

17190602

TgeneTHOC6

GO:0046784

viral mRNA export from host cell nucleus

18974867


check buttonFusion gene breakpoints across HCFC1R1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across THOC6 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4OVTCGA-10-0926-01AHCFC1R1chr16

3074094

-THOC6chr16

3074304

+


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Fusion Gene ORF analysis for HCFC1R1-THOC6

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
intron-5UTRENST00000248089ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000248089ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000248089ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000248089ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000354679ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000354679ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000354679ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000354679ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000396916ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000396916ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000396916ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000396916ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000572355ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000572355ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000572355ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000572355ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574151ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574151ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574151ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574151ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574980ENST00000253952HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574980ENST00000326266HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574980ENST00000574549HCFC1R1chr16

3074094

-THOC6chr16

3074304

+
intron-5UTRENST00000574980ENST00000575576HCFC1R1chr16

3074094

-THOC6chr16

3074304

+

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)

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

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Fusion Genomic Features for HCFC1R1-THOC6


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.

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 HCFC1R1-THOC6


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/:3074094/:3074304)
- 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
HCFC1R1

Q9NWW0

.
FUNCTION: Regulates HCFC1 activity by modulating its subcellular localization. Overexpression of HCFC1R1 leads to accumulation of HCFC1 in the cytoplasm. HCFC1R1-mediated export may provide the pool of cytoplasmic HCFC1 required for import of virion-derived VP16 into the nucleus. {ECO:0000269|PubMed:12235138}.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

- 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 HCFC1R1-THOC6


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.

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Fusion Gene PPI Analysis for HCFC1R1-THOC6


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 HCFC1R1-THOC6


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 HCFC1R1-THOC6


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