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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:CCDC6-IFIT1 (FusionGDB2 ID:13887)

Fusion Gene Summary for CCDC6-IFIT1

check button Fusion gene summary
Fusion gene informationFusion gene name: CCDC6-IFIT1
Fusion gene ID: 13887
HgeneTgene
Gene symbol

CCDC6

IFIT1

Gene ID

8030

3434

Gene namecoiled-coil domain containing 6interferon induced protein with tetratricopeptide repeats 1
SynonymsD10S170|H4|PTC|TPC|TST1C56|G10P1|IFI-56|IFI-56K|IFI56|IFIT-1|IFNAI1|ISG56|P56|RNM561
Cytomap

10q21.2

10q23.31

Type of geneprotein-codingprotein-coding
Descriptioncoiled-coil domain-containing protein 6papillary thyroid carcinoma-encoded proteininterferon-induced protein with tetratricopeptide repeats 1interferon, alpha-inducible protein (MW 56kD)interferon-induced 56 kDa proteininterferon-inducible mRNA 561
Modification date2020032720200313
UniProtAcc

Q16204

Q5T764

Ensembl transtripts involved in fusion geneENST00000263102, ENST00000546318, 
ENST00000371804, 
Fusion gene scores* DoF score15 X 22 X 10=33004 X 2 X 3=24
# samples 384
** MAII scorelog2(38/3300*10)=-3.11839470080223
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: CCDC6 [Title/Abstract] AND IFIT1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCCDC6(61612311)-IFIT1(91162038), # 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
TgeneIFIT1

GO:0009615

response to virus

19416887

TgeneIFIT1

GO:0019060

intracellular transport of viral protein in host cell

19008854

TgeneIFIT1

GO:0032091

negative regulation of protein binding

19416887

TgeneIFIT1

GO:0045070

positive regulation of viral genome replication

19416887

TgeneIFIT1

GO:0051097

negative regulation of helicase activity

19008854

TgeneIFIT1

GO:0071357

cellular response to type I interferon

19008854

TgeneIFIT1

GO:0071360

cellular response to exogenous dsRNA

19008854


check buttonFusion gene breakpoints across CCDC6 (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 IFIT1 (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-BR-A4IY-01ACCDC6chr10

61612311

-IFIT1chr10

91162038

+


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Fusion Gene ORF analysis for CCDC6-IFIT1

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-5UTRENST00000263102ENST00000546318CCDC6chr10

61612311

-IFIT1chr10

91162038

+
In-frameENST00000263102ENST00000371804CCDC6chr10

61612311

-IFIT1chr10

91162038

+

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)
ENST00000263102CCDC6chr1061612311-ENST00000371804IFIT1chr1091162038+23936857192116465

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
ENST00000263102ENST00000371804CCDC6chr1061612311-IFIT1chr1091162038+0.0017625260.9982375

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Fusion Genomic Features for CCDC6-IFIT1


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)
CCDC6chr1061612310-IFIT1chr1091162037+1.54E-081
CCDC6chr1061612310-IFIT1chr1091162037+1.54E-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 CCDC6-IFIT1


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/chr10:61612311/chr10:91162038)
- 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
CCDC6

Q16204

IFIT1

Q5T764


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
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-2917_20151475.0Compositional biasNote=Poly-Ser
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-2932_44151475.0Compositional biasNote=Poly-Gly
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29106_134151475.0RepeatNote=1
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402139_1741479.0RepeatNote=TPR 3
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402183_2161479.0RepeatNote=TPR 4
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402218_2491479.0RepeatNote=TPR 5
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402251_2841479.0RepeatNote=TPR 6
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402305_3391479.0RepeatNote=TPR 7
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402340_3731479.0RepeatNote=TPR 8
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402378_4121479.0RepeatNote=TPR 9
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402437_4701479.0RepeatNote=TPR 10
TgeneIFIT1chr10:61612311chr10:91162038ENST000003718040252_851479.0RepeatNote=TPR 1
TgeneIFIT1chr10:61612311chr10:91162038ENST000003718040295_1281479.0RepeatNote=TPR 2

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29253_332151475.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-2953_237151475.0Coiled coilOntology_term=ECO:0000255
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29440_448151475.0Compositional biasNote=Poly-Pro
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29442_451151475.0MotifSH3-binding
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29106_235151475.0RegionNote=5 X 29 AA tandem repeats
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29135_163151475.0RepeatNote=2
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29164_192151475.0RepeatNote=3
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29193_206151475.0RepeatNote=4%3B approximate
HgeneCCDC6chr10:61612311chr10:91162038ENST00000263102-29207_235151475.0RepeatNote=5


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Fusion Gene Sequence for CCDC6-IFIT1


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.
>13887_13887_1_CCDC6-IFIT1_CCDC6_chr10_61612311_ENST00000263102_IFIT1_chr10_91162038_ENST00000371804_length(transcript)=2393nt_BP=685nt
AGTGCAATACTGCCCAAGCCCGGGCGGGGTCTCTGTTCTCTGGCAGAGGAGGTCCCTTGGCAGCGGGAAGCGCCCTCTCTTTCTCTCGCC
GCCGCTCCGAGTCTGCGCCCTGGTGCCAGGCGCTCAGCTCGGCGCTCCCCTGTGCTCGCCCGGCGCCCACTCATTCGCAGCCCGGCCTTC
GTCGCCGCCGCCTCCCTGCTGCTCCTCCTCCTTTCCCCAGCCCGCCGCGGCCATGGCGGACAGCGCCAGCGAGAGCGACACGGACGGGGC
GGGGGGCAACAGCAGCAGCTCGGCCGCCATGCAGTCGTCCTGCTCGTCGACCTCGGGCGGCGGCGGTGGCGGCGGGGGAGGCGGCGGCGG
TGGGAAGTCGGGGGGCATTGTCATCTCGCCGTTCCGCCTGGAGGAGCTCACCAACCGCCTGGCCTCGCTGCAGCAAGAGAACAAGGTGCT
GAAGATAGAGCTGGAGACCTACAAACTGAAGTGCAAGGCACTGCAGGAGGAGAACCGCGACCTGCGCAAAGCCAGCGTGACCATCCAAGC
CAGGGCTGAGCAGGAAGAAGAATTCATTAGTAACACTTTATTCAAGAAAATTCAGGCTTTGCAGAAGGAGAAAGAAACCCTTGCTGTAAA
TTATGAGAAAGAAGAAGAATTCCTCACTAATGAGCTCTCCAGAAAATTGATGCAGTACAAATGGTGATGATCATCAGGTCAAGGATAGTC
TGGAGCAATTGAGATGTCACTTTACATGGGAGTTATCCATTGATGACGATGAAATGCCTGATTTAGAAAACAGAGTCTTGGATCAGATTG
AATTCCTAGACACCAAATACAGTGTGGGAATACACAACCTACTAGCCTATGTGAAACACCTGAAAGGCCAGAATGAGGAAGCCCTGAAGA
GCTTAAAAGAAGCTGAAAACTTAATGCAGGAAGAACATGACAACCAAGCAAATGTGAGGAGTCTGGTGACCTGGGGCAACTTTGCCTGGA
TGTATTACCACATGGGCAGACTGGCAGAAGCCCAGACTTACCTGGACAAGGTGGAGAACATTTGCAAGAAGCTTTCAAATCCCTTCCGCT
ATAGAATGGAGTGTCCAGAAATAGACTGTGAGGAAGGATGGGCCTTGCTGAAGTGTGGAGGAAAAAATTATGAACGGGCCAAGGCCTGCT
TTGAAAAGGTGCTTGAAGTGGACCCTGAAAACCCTGAATCCAGCGCTGGGTATGCGATCTCTGCCTATCGCCTGGATGGCTTTAAATTAG
CCACAAAAAATCACAAGCCATTTTCTTTGCTTCCCCTAAGGCAGGCTGTCCGCTTAAATCCAGACAATGGATATATTAAGGTTCTCCTTG
CCCTGAAGCTTCAGGATGAAGGACAGGAAGCTGAAGGAGAAAAGTACATTGAAGAAGCTCTAGCCAACATGTCCTCACAGACCTATGTCT
TTCGATATGCAGCCAAGTTTTACCGAAGAAAAGGCTCTGTGGATAAAGCTCTTGAGTTATTAAAAAAGGCCTTGCAGGAAACACCCACTT
CTGTCTTACTGCATCACCAGATAGGGCTTTGCTACAAGGCACAAATGATCCAAATCAAGGAGGCTACAAAAGGGCAGCCTAGAGGGCAGA
ACAGAGAAAAGCTAGACAAAATGATAAGATCAGCCATATTTCATTTTGAATCTGCAGTGGAAAAAAAGCCCACATTTGAGGTGGCTCATC
TAGACCTGGCAAGAATGTATATAGAAGCAGGCAATCACAGAAAAGCTGAAGAGAATTTTCAAAAATTGTTATGCATGAAACCAGTGGTAG
AAGAAACAATGCAAGACATACATTTCCACTATGGTCGGTTTCAGGAATTTCAAAAGAAATCTGACGTCAATGCAATTATCCATTATTTAA
AAGCTATAAAAATAGAACAGGCATCATTAACAAGGGATAAAAGTATCAATTCTTTGAAGAAATTGGTTTTAAGGAAACTTCGGAGAAAGG
CATTAGATCTGGAAAGCTTGAGCCTCCTTGGGTTCGTCTACAAATTGGAAGGAAATATGAATGAAGCCCTGGAGTACTATGAGCGGGCCC
TGAGACTGGCTGCTGACTTTGAGAACTCTGTGAGACAAGGTCCTTAGGCACCCAGATATCAGCCACTTTCACATTTCATTTCATTTTATG
CTAACATTTACTAATCATCTTTTCTGCTTACTGTTTTCAGAAACATTATAATTCACTGTAATGATGTAATTCTTGAATAATAAATCTGAC
AAAATATTAGTTGTGTTCAACAATTAGTGAAACAGAATGTGTGTATGCATGTAAGAAAGAGAAATCATTTGTATGAGTGCTATGTAGTAG

>13887_13887_1_CCDC6-IFIT1_CCDC6_chr10_61612311_ENST00000263102_IFIT1_chr10_91162038_ENST00000371804_length(amino acids)=465AA_BP=2
MEQLRCHFTWELSIDDDEMPDLENRVLDQIEFLDTKYSVGIHNLLAYVKHLKGQNEEALKSLKEAENLMQEEHDNQANVRSLVTWGNFAW
MYYHMGRLAEAQTYLDKVENICKKLSNPFRYRMECPEIDCEEGWALLKCGGKNYERAKACFEKVLEVDPENPESSAGYAISAYRLDGFKL
ATKNHKPFSLLPLRQAVRLNPDNGYIKVLLALKLQDEGQEAEGEKYIEEALANMSSQTYVFRYAAKFYRRKGSVDKALELLKKALQETPT
SVLLHHQIGLCYKAQMIQIKEATKGQPRGQNREKLDKMIRSAIFHFESAVEKKPTFEVAHLDLARMYIEAGNHRKAEENFQKLLCMKPVV
EETMQDIHFHYGRFQEFQKKSDVNAIIHYLKAIKIEQASLTRDKSINSLKKLVLRKLRRKALDLESLSLLGFVYKLEGNMNEALEYYERA

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

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Fusion Gene PPI Analysis for CCDC6-IFIT1


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
TgeneIFIT1chr10:61612311chr10:91162038ENST0000037180402256_2621.6666666666666667479.0the 5'-triphosphate group of PPP-RNA


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 CCDC6-IFIT1


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 CCDC6-IFIT1


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