Fusion Gene Studies
in Kim Lab

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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:KITLG-CCDC6 (FusionGDB2 ID:HG4254TG8030)

Fusion Gene Summary for KITLG-CCDC6

check button Fusion gene summary
Fusion gene informationFusion gene name: KITLG-CCDC6
Fusion gene ID: hg4254tg8030
HgeneTgene
Gene symbol

KITLG

CCDC6

Gene ID

4254

8030

Gene nameKIT ligandcoiled-coil domain containing 6
SynonymsDCUA|DFNA69|FPH2|FPHH|KL-1|Kitl|MGF|SCF|SF|SHEP7|SLFD10S170|H4|PTC|TPC|TST1
Cytomap('KITLG')('CCDC6')

12q21.32

10q21.2

Type of geneprotein-codingprotein-coding
Descriptionkit ligandc-Kit ligandfamilial progressive hyperpigmentation 2mast cell growth factorsteel factorstem cell factorcoiled-coil domain-containing protein 6papillary thyroid carcinoma-encoded protein
Modification date2020032020200327
UniProtAcc.

Q16204

Ensembl transtripts involved in fusion geneENST00000357116, ENST00000228280, 
ENST00000347404, ENST00000378535, 
Fusion gene scores* DoF score6 X 4 X 3=7212 X 8 X 6=576
# samples 714
** MAII scorelog2(7/72*10)=-0.0406419844973459
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/576*10)=-2.04064198449735
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

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

Most frequent breakpointKITLG(88974041)-CCDC6(61612460), # samples:2
Anticipated loss of major functional domain due to fusion event.KITLG-CCDC6 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.
KITLG-CCDC6 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.
KITLG-CCDC6 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.
KITLG-CCDC6 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
HgeneKITLG

GO:0008284

positive regulation of cell proliferation

9722506

HgeneKITLG

GO:0035162

embryonic hemopoiesis

21149635


check buttonFusion gene breakpoints across KITLG (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 CCDC6 (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
ChimerDB4LUSCTCGA-22-1017-01AKITLGchr12

88974041

-CCDC6chr10

61612460

-


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Fusion Gene ORF analysis for KITLG-CCDC6

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
5UTR-3CDSENST00000357116ENST00000263102KITLGchr12

88974041

-CCDC6chr10

61612460

-
In-frameENST00000228280ENST00000263102KITLGchr12

88974041

-CCDC6chr10

61612460

-
In-frameENST00000347404ENST00000263102KITLGchr12

88974041

-CCDC6chr10

61612460

-
intron-3CDSENST00000378535ENST00000263102KITLGchr12

88974041

-CCDC6chr10

61612460

-

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)
ENST00000228280KITLGchr1288974041-ENST00000263102CCDC6chr1061612460-54741981531319388
ENST00000347404KITLGchr1288974041-ENST00000263102CCDC6chr1061612460-58645885431709388

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
ENST00000228280ENST00000263102KITLGchr1288974041-CCDC6chr1061612460-0.0010471920.99895275
ENST00000347404ENST00000263102KITLGchr1288974041-CCDC6chr1061612460-0.0012264260.9987735

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Fusion Genomic Features for KITLG-CCDC6


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

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Fusion Protein Features for KITLG-CCDC6


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/chr12:88974041/chr10:61612460)
- 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

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
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209253_332101475.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209440_448101475.0Compositional biasNote=Poly-Pro
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209442_451101475.0MotifSH3-binding
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209106_235101475.0RegionNote=5 X 29 AA tandem repeats
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209106_134101475.0RepeatNote=1
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209135_163101475.0RepeatNote=2
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209164_192101475.0RepeatNote=3
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209193_206101475.0RepeatNote=4%3B approximate
TgeneCCDC6chr12:88974041chr10:61612460ENST0000026310209207_235101475.0RepeatNote=5

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKITLGchr12:88974041chr10:61612460ENST00000228280-110238_2735395.6666666666667Topological domainCytoplasmic
HgeneKITLGchr12:88974041chr10:61612460ENST00000228280-11026_2145395.6666666666667Topological domainExtracellular
HgeneKITLGchr12:88974041chr10:61612460ENST00000347404-19238_2735237.66666666666666Topological domainCytoplasmic
HgeneKITLGchr12:88974041chr10:61612460ENST00000347404-1926_2145237.66666666666666Topological domainExtracellular
HgeneKITLGchr12:88974041chr10:61612460ENST00000228280-110215_2375395.6666666666667TransmembraneHelical
HgeneKITLGchr12:88974041chr10:61612460ENST00000347404-19215_2375237.66666666666666TransmembraneHelical
TgeneCCDC6chr12:88974041chr10:61612460ENST000002631020953_237101475.0Coiled coilOntology_term=ECO:0000255
TgeneCCDC6chr12:88974041chr10:61612460ENST000002631020917_20101475.0Compositional biasNote=Poly-Ser
TgeneCCDC6chr12:88974041chr10:61612460ENST000002631020932_44101475.0Compositional biasNote=Poly-Gly


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Fusion Gene Sequence for KITLG-CCDC6


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.
>42800_42800_1_KITLG-CCDC6_KITLG_chr12_88974041_ENST00000228280_CCDC6_chr10_61612460_ENST00000263102_length(transcript)=5474nt_BP=198nt
CCGCCTCGCGCCGAGACTAGAAGCGCTGCGGGAAGCAGGGACAGTGGAGAGGGCGCTGCGCTCGGGCTACCCAATGCGTGGACTATCTGC
CGCCGCTGTTCGTGCAATATGCTGGAGCTCCAGAACAGCTAAACGGAGTCGCCACACCACTGTTTGTGCTGGATCGCAGCGCTGCCTTTC
CTTATGAAGAAGACACAACAAGCCAGGGCTGAGCAGGAAGAAGAATTCATTAGTAACACTTTATTCAAGAAAATTCAGGCTTTGCAGAAG
GAGAAAGAAACCCTTGCTGTAAATTATGAGAAAGAAGAAGAATTCCTCACTAATGAGCTCTCCAGAAAATTGATGCAGTTGCAGCATGAG
AAAGCCGAACTAGAACAGCATCTTGAACAAGAGCAGGAATTTCAGGTCAACAAACTGATGAAGAAAATTAAAAAACTGGAGAATGACACC
ATTTCTAAGCAACTTACATTAGAACAGTTGAGACGGGAGAAGATTGACCTTGAAAATACATTGGAACAAGAACAAGAAGCACTAGTTAAT
CGCCTCTGGAAAAGGATGGATAAGCTTGAAGCTGAAAAGCGAATCCTGCAGGAAAAATTAGACCAGCCCGTCTCTGCTCCACCATCGCCT
AGAGATATCTCCATGGAGATTGATTCTCCAGAAAATATGATGCGTCACATCAGGTTTTTAAAGAATGAAGTGGAACGGCTGAAGAAGCAA
CTGAGAGCTGCTCAGTTACAGCATTCAGAGAAAATGGCACAGTATCTGGAGGAGGAACGTCACATGAGAGAAGAGAACTTGAGGCTCCAG
AGGAAGCTGCAGAGGGAGATGGAGAGAAGAGAAGCCCTCTGTCGACAGCTCTCCGAGAGTGAGTCCAGCTTAGAAATGGACGACGAAAGG
TATTTTAATGAGATGTCTGCACAAGGATTAAGACCTCGCACTGTGTCCAGCCCGATCCCTTACACACCTTCTCCGAGTTCAAGCAGGCCT
ATATCACCTGGTCTATCATATGCAAGTCACACGGTTGGTTTCACGCCACCAACTTCACTGACTAGAGCTGGAATGTCTTATTACAATTCC
CCGGGTCTTCACGTGCAGCACATGGGAACATCCCATGGTATCACAAGGCCTTCACCACGGAGAAGCAACAGTCCTGACAAATTCAAACGG
CCCACGCCGCCTCCATCTCCCAACACACAGACCCCAGTCCAGCCACCTCCGCCTCCACCTCCGCCACCCATGCAGCCCACGGTCCCCTCA
GCAGCCACCTCGCAGCCTACTCCTTCGCAACATTCGGCGCACCCCTCCTCCCAGCCTTAATGCATGAGCTTAGTCTGAATTTCAAGTTGG
GACTCATCCAATGGAGCCGTCTACTCAACGCCAAAGGCTTCCTTCTCTGGCATATTTGGATATGACTTATTTGCACTGAGGTTATCTAGG
CTTCACTATCCATTGTGTTGTAAATGTTTGTCAGAAATGCAGCCAGTGTTGTGGGTCTACAACACTAACCAGACGACTTTTTCCATCAGT
GTTTTACTTGAATCTTCATGTACGTCCATTCCCTGGCTGGAACCTTCGCTGTTTGGTATTTGGTATTTCAGCAGCAGTGTGCAATTTTTG
CTTGGCCCAGAGCTTCATTCTCCTGGCTTTTAGGTTTGTAAAAGAAAAAGGGATATCTTTTTTATATTTTTTTCCATGAATCTGCAGAAA
ATTACTGAGCTGTTGTTACCCTCCTCTCATTATAATAGTGTTTACCAAACATACCAATAATTCAGCACTACAATTCAGACCTTTGAAAAT
CTGGCTTTCAGTGTAGAACAGAAAGTTAGATGAATCAGTGCCCAAGACATATTTTCTGTTTAACAGAACTTTCTACAGATACATTTTTTA
CAGGTTATTTTCATTGTGTTATTGACATCCATGTCTCTCGTAAAACAGATGGCCCAAAGTAATGAATCATGTGGCTGTACCTTCTCCACA
TAAATGGGATGGATAATTATCGTATATTAAGATGTGATTCTCTTTTTTATCCTTAATGTTAATCTACTTAACCTGGCCCCCTCTAACATG
AGTCGATAAATGTTGTCCTACTCACCGGTGGTTTCAATGGCTAATTAGAATGTGTTATTTGATTTCTGCTGCAGAAGGCAGTGTGATTGT
AACAAAAACAATGCGGCTTCCCCCTTTCGTACTTCATTTGTGTTCTCTTAAAATAGAGTTTGAACAAATATTTTAAAGGTGCAAAATACC
ATTAGAAAATACTATTTGAAATGGACATTATCGCATTATCTTGGCATAATGGCCAGAAAATATTGTATTGCTTGGCAGAAAAGAAAATAA
GGTCTAAAGGAAAGTAGCACATTAGCATTGATGGCTGTTCATTTCACCCAGTATAAGCAAGTGCAGTGTACAAAGAAGTATATTCTGAAT
ACATTATTTCCATTCATTTAGCACAAATAAATCATTTGGTTTCACTTTGCAGTGGAACACTGAGTCACTCTTTTCTTAACACGTGCAACA
TCTTAATTTTTGTTTTTCAGCAGTTGCTGTTTTGTACTTTGGTAGTAAAGTGATTTTTACCACCTGTGTTTGCATATTTATATATGCTGT
GGATGAAAATAACTTACTAGAGAATGTATATTTTATGACAAGAATGTGTATCTGTTGGATATAATCAGAGAACTGAAAAGTAATTTATCA
GTAATTTTTAAGAGTCCATGTTTTGTGACAACCATCTCTAATAGCCAACTCTTTATTAAACACACTCCTAAAAATAAGGAACCATGACAT
TGTAGATATTTAATATTGTACAGTATAGAAACCTCCATTTTTGCCTTCGAATGCATATTTAAGAGTTAACAGAATGAAAAAAAAAAGTCT
TGTTGGATAATAGTGTTTGACTAGCGTTTTAAGAACTTGAGAGTAAAAGCAACAATAAGATTTTTTCACCTCTTCCTGCTTCCACCCCCA
AACTGAGAACATCACTCAATTGTTTGGAAGAAACTGTAGGTCTATATAAATTTTATTTATAATGTATGTGTAATATACATAATCATAATA
CAGTTCTCAGATGCAGGGAAGAAGTTTGGCATTTAATCATTGAGGCTTTAGGTTTTTGATGTGATCAGACTGGGCCATGTCAAACCCGGA
ATTTTCACCAACAGTTCACTCACCCTCCTGGTACATTGCCATTCCAAGGAATTCTGAGAGTAGGCAAACAAATTTTGCCTTCATGGTACA
GTTCTCAGTTTTTCTTATAGGAGAAATATGGTATATGTTTATAAGAATCTTTTATGAGATTATAGATTTCAATGCTGTGGATAGTGTCTT
GCACCCAAACAAGAAAGTCCATAATGGAATGATCTTCCCTCAGCTTCCTATCGATTTAGTTACCTCTTGAAAGCACAAAAATTAAAACAT
TGCCATATGTTGAATTTTTAAAAAGCACTTGGAGTGAGCGAACATTTCCTGATAAATGCCTTTTAGAGATAGGTTCTTGATATTCAGACA
TCTGCAGAAATGTTCTGGTTCCCAAAGTCATTTCACTTCGAAATAAAACACAGCTCCTTCAAACAGCACTTTTTCCACATAAATCTAGTT
GCCTCTCCCTGTGGACATTCAGAACTGATAGAACAAACACTACTCTTTTGAATTTGATGGTTCGTGTCCTTTAAAGTGTTTGAGGACCTA
TGCAGAGCCTGTAACACTTGGGTAGTACCTGCTAGGACAATTTCTTGGCAATTGTCTTACTACTAGGGATCAGTAAGATTTAGATTCTGA
GCCCATAATGGCAACAGCCCCCTCACCTATGGGAAGCTGACTTCCCTCAGTCGGGCACTTCTCATGGGGGCTGAACATGGTTCCTGCCAT
TCTGTTACCCACTCTCCCAGGTGAGCCCTGGATTGGCTCCCAGAAGGCCTTTGTAAAATCAGTAGCCGTCCTGCAGGCAGGTGGGAGCAA
CAGGGGCTTCAGTAGCTTCATTTTCCTGTCTTGCAGACAGAGACCCTTGGCTACCACTGTGCTGCTAATAGGATAAGTACTCTGTTGCCA
GATTACCATGCCTTTTATACAAAACCAAATTAACTTACCTAATACCTGACACCTCTTTGGGCTCTGAACTGCTTTCTCTCATCAAGCATG
CTAGCACTCTAGACAGAATTCTAGAAATTTGGCAGATAGTGGAAGCCTTTAATTGAACTTACTCCTTCGTTGACTGAAAGGAGTTTTAAA
TTCTGAGCTCCTGAGATACTGACTAGCAACCATGGAATGAATGTGTGACCAGAAAGTGGCTTTGACACCAAGTGCTACTGTCCCTTTGTA
ATTGGCTTCTAACAGAATTCAACCAGAAATAATTGATAATGTGAATTTTTGTTAATTGTTCACTTGTAGGAAAATAGAACATGTATCACC
CTTTGTTAGGTAGACATGAACTTTTCCTGCACAAAGCCTTGCTTTTAGAGAATGCCCAATAAGGCAAGAAAAAGCATAGTAACTTGTGCT
TTGAGAGCTCAATATTTGTATCTTATCAGTACAGAAGAAATATTTCTGTGTAACTTGATCTTCTGTCTAGTACTTGTCTTATAGGTAACC
AACACTGAAAACTTTGTAGTGATGACTACCAAAGAAATACATAGTAAAACAACCTTTTATTTCCAAATTGTTAAAGAGCCAGCCATTGAT
GCTGCTACATGAGTTCCATGCTCAAGAGCCATTGTAAGAGATTAAGGGGTTTCTAGGTTTTTGGTGATTTTTTGTTTGTTTTTTTCTTTG
TTTTTTAGGGTTTTTTTTTCTTCTTTAATTTTTTGATTAAAACATACACACAGCTGTTAGCATAAAGTCGTGGGGGGCATTTTCTGGAAT
GCTCAGCAGTTCTGATTAACTGCCAAGCCCAGGTTGCCTCTCATGAGGCAACTGAAAAAATCCTGTGTCTTGATAGCATGGGTGCTGTGT
GTGTGCATGTGTGTGTCTGCATTCATGCCTTAACTCGGGTTACTGCACAACTTTAGTTCTTGACTTAGTCTGCACCGTCATCTAGATTGT
ATTGTACATCTCGGTCTGAACTTCATCCTGGCAAAAACAAAGTTGCAGGCACAACAGTTTAAGAATGCATTCCTCCAGAAGAGTATCTGG
TCAGGTTGACCCCTGAGCCTTCTTTGGACTTGATTTGGAACTTAGCCTGGAAAGCGAAAGTGGACTGTCCAACAGAAAGATGTCAACAAG
GAAAAGAGGAGAGCCAAGCGCTAGCATGCCTTTTGCCTCTGCATATCTGTGCACACTGTATGTTGTTCATGATAGCTTGTCTACAACTTG
ACTAGGTTGGAGTTCTGGTAATAGTGGCAATCTTGACATTCTTGGTCAGAGTTTAGAGAGATGTAAGACTTTCAATTAATGTCTTATTTA

>42800_42800_1_KITLG-CCDC6_KITLG_chr12_88974041_ENST00000228280_CCDC6_chr10_61612460_ENST00000263102_length(amino acids)=388AA_BP=14
MCWIAALPFLMKKTQQARAEQEEEFISNTLFKKIQALQKEKETLAVNYEKEEEFLTNELSRKLMQLQHEKAELEQHLEQEQEFQVNKLMK
KIKKLENDTISKQLTLEQLRREKIDLENTLEQEQEALVNRLWKRMDKLEAEKRILQEKLDQPVSAPPSPRDISMEIDSPENMMRHIRFLK
NEVERLKKQLRAAQLQHSEKMAQYLEEERHMREENLRLQRKLQREMERREALCRQLSESESSLEMDDERYFNEMSAQGLRPRTVSSPIPY
TPSPSSSRPISPGLSYASHTVGFTPPTSLTRAGMSYYNSPGLHVQHMGTSHGITRPSPRRSNSPDKFKRPTPPPSPNTQTPVQPPPPPPP

--------------------------------------------------------------
>42800_42800_2_KITLG-CCDC6_KITLG_chr12_88974041_ENST00000347404_CCDC6_chr10_61612460_ENST00000263102_length(transcript)=5864nt_BP=588nt
AACAGAGGGAGCTCCGAGCCCTCTCTGGCGCGCGAGGTATTTCGTCTGTCCCCGGGGGTGCCAGGTGAGCCCCAGCGGATCCGGGAGGGT
AAGCTGGGACTCCTCGCGAGCAGTAGCTGCAGGGTACCAAGCTTCGCCCTCTGCGTCCCCGCGCCTTCGCGGTCTCCCGCCAGTGCAGGT
CCGGGGCCCCCAGGCGAGCGGACAAGGTTGGCCTAATCTGCCAAACTTCTGGGGCATTTACCGTGCTCTGGCCGCCCTCCCGATTCTTCC
CTCCGCGCCCTTGCCTGCTTCTCGCCTACCCCGGGCTCCGGAAGGGAAGGAGGCGTGTCCGGAGCAGGCGGGCGGGAACTGTATAAAAGC
GCCGGCGGCTCAGCAGCCGGGCTTCGCTCGCCGCCTCGCGCCGAGACTAGAAGCGCTGCGGGAAGCAGGGACAGTGGAGAGGGCGCTGCG
CTCGGGCTACCCAATGCGTGGACTATCTGCCGCCGCTGTTCGTGCAATATGCTGGAGCTCCAGAACAGCTAAACGGAGTCGCCACACCAC
TGTTTGTGCTGGATCGCAGCGCTGCCTTTCCTTATGAAGAAGACACAACAAGCCAGGGCTGAGCAGGAAGAAGAATTCATTAGTAACACT
TTATTCAAGAAAATTCAGGCTTTGCAGAAGGAGAAAGAAACCCTTGCTGTAAATTATGAGAAAGAAGAAGAATTCCTCACTAATGAGCTC
TCCAGAAAATTGATGCAGTTGCAGCATGAGAAAGCCGAACTAGAACAGCATCTTGAACAAGAGCAGGAATTTCAGGTCAACAAACTGATG
AAGAAAATTAAAAAACTGGAGAATGACACCATTTCTAAGCAACTTACATTAGAACAGTTGAGACGGGAGAAGATTGACCTTGAAAATACA
TTGGAACAAGAACAAGAAGCACTAGTTAATCGCCTCTGGAAAAGGATGGATAAGCTTGAAGCTGAAAAGCGAATCCTGCAGGAAAAATTA
GACCAGCCCGTCTCTGCTCCACCATCGCCTAGAGATATCTCCATGGAGATTGATTCTCCAGAAAATATGATGCGTCACATCAGGTTTTTA
AAGAATGAAGTGGAACGGCTGAAGAAGCAACTGAGAGCTGCTCAGTTACAGCATTCAGAGAAAATGGCACAGTATCTGGAGGAGGAACGT
CACATGAGAGAAGAGAACTTGAGGCTCCAGAGGAAGCTGCAGAGGGAGATGGAGAGAAGAGAAGCCCTCTGTCGACAGCTCTCCGAGAGT
GAGTCCAGCTTAGAAATGGACGACGAAAGGTATTTTAATGAGATGTCTGCACAAGGATTAAGACCTCGCACTGTGTCCAGCCCGATCCCT
TACACACCTTCTCCGAGTTCAAGCAGGCCTATATCACCTGGTCTATCATATGCAAGTCACACGGTTGGTTTCACGCCACCAACTTCACTG
ACTAGAGCTGGAATGTCTTATTACAATTCCCCGGGTCTTCACGTGCAGCACATGGGAACATCCCATGGTATCACAAGGCCTTCACCACGG
AGAAGCAACAGTCCTGACAAATTCAAACGGCCCACGCCGCCTCCATCTCCCAACACACAGACCCCAGTCCAGCCACCTCCGCCTCCACCT
CCGCCACCCATGCAGCCCACGGTCCCCTCAGCAGCCACCTCGCAGCCTACTCCTTCGCAACATTCGGCGCACCCCTCCTCCCAGCCTTAA
TGCATGAGCTTAGTCTGAATTTCAAGTTGGGACTCATCCAATGGAGCCGTCTACTCAACGCCAAAGGCTTCCTTCTCTGGCATATTTGGA
TATGACTTATTTGCACTGAGGTTATCTAGGCTTCACTATCCATTGTGTTGTAAATGTTTGTCAGAAATGCAGCCAGTGTTGTGGGTCTAC
AACACTAACCAGACGACTTTTTCCATCAGTGTTTTACTTGAATCTTCATGTACGTCCATTCCCTGGCTGGAACCTTCGCTGTTTGGTATT
TGGTATTTCAGCAGCAGTGTGCAATTTTTGCTTGGCCCAGAGCTTCATTCTCCTGGCTTTTAGGTTTGTAAAAGAAAAAGGGATATCTTT
TTTATATTTTTTTCCATGAATCTGCAGAAAATTACTGAGCTGTTGTTACCCTCCTCTCATTATAATAGTGTTTACCAAACATACCAATAA
TTCAGCACTACAATTCAGACCTTTGAAAATCTGGCTTTCAGTGTAGAACAGAAAGTTAGATGAATCAGTGCCCAAGACATATTTTCTGTT
TAACAGAACTTTCTACAGATACATTTTTTACAGGTTATTTTCATTGTGTTATTGACATCCATGTCTCTCGTAAAACAGATGGCCCAAAGT
AATGAATCATGTGGCTGTACCTTCTCCACATAAATGGGATGGATAATTATCGTATATTAAGATGTGATTCTCTTTTTTATCCTTAATGTT
AATCTACTTAACCTGGCCCCCTCTAACATGAGTCGATAAATGTTGTCCTACTCACCGGTGGTTTCAATGGCTAATTAGAATGTGTTATTT
GATTTCTGCTGCAGAAGGCAGTGTGATTGTAACAAAAACAATGCGGCTTCCCCCTTTCGTACTTCATTTGTGTTCTCTTAAAATAGAGTT
TGAACAAATATTTTAAAGGTGCAAAATACCATTAGAAAATACTATTTGAAATGGACATTATCGCATTATCTTGGCATAATGGCCAGAAAA
TATTGTATTGCTTGGCAGAAAAGAAAATAAGGTCTAAAGGAAAGTAGCACATTAGCATTGATGGCTGTTCATTTCACCCAGTATAAGCAA
GTGCAGTGTACAAAGAAGTATATTCTGAATACATTATTTCCATTCATTTAGCACAAATAAATCATTTGGTTTCACTTTGCAGTGGAACAC
TGAGTCACTCTTTTCTTAACACGTGCAACATCTTAATTTTTGTTTTTCAGCAGTTGCTGTTTTGTACTTTGGTAGTAAAGTGATTTTTAC
CACCTGTGTTTGCATATTTATATATGCTGTGGATGAAAATAACTTACTAGAGAATGTATATTTTATGACAAGAATGTGTATCTGTTGGAT
ATAATCAGAGAACTGAAAAGTAATTTATCAGTAATTTTTAAGAGTCCATGTTTTGTGACAACCATCTCTAATAGCCAACTCTTTATTAAA
CACACTCCTAAAAATAAGGAACCATGACATTGTAGATATTTAATATTGTACAGTATAGAAACCTCCATTTTTGCCTTCGAATGCATATTT
AAGAGTTAACAGAATGAAAAAAAAAAGTCTTGTTGGATAATAGTGTTTGACTAGCGTTTTAAGAACTTGAGAGTAAAAGCAACAATAAGA
TTTTTTCACCTCTTCCTGCTTCCACCCCCAAACTGAGAACATCACTCAATTGTTTGGAAGAAACTGTAGGTCTATATAAATTTTATTTAT
AATGTATGTGTAATATACATAATCATAATACAGTTCTCAGATGCAGGGAAGAAGTTTGGCATTTAATCATTGAGGCTTTAGGTTTTTGAT
GTGATCAGACTGGGCCATGTCAAACCCGGAATTTTCACCAACAGTTCACTCACCCTCCTGGTACATTGCCATTCCAAGGAATTCTGAGAG
TAGGCAAACAAATTTTGCCTTCATGGTACAGTTCTCAGTTTTTCTTATAGGAGAAATATGGTATATGTTTATAAGAATCTTTTATGAGAT
TATAGATTTCAATGCTGTGGATAGTGTCTTGCACCCAAACAAGAAAGTCCATAATGGAATGATCTTCCCTCAGCTTCCTATCGATTTAGT
TACCTCTTGAAAGCACAAAAATTAAAACATTGCCATATGTTGAATTTTTAAAAAGCACTTGGAGTGAGCGAACATTTCCTGATAAATGCC
TTTTAGAGATAGGTTCTTGATATTCAGACATCTGCAGAAATGTTCTGGTTCCCAAAGTCATTTCACTTCGAAATAAAACACAGCTCCTTC
AAACAGCACTTTTTCCACATAAATCTAGTTGCCTCTCCCTGTGGACATTCAGAACTGATAGAACAAACACTACTCTTTTGAATTTGATGG
TTCGTGTCCTTTAAAGTGTTTGAGGACCTATGCAGAGCCTGTAACACTTGGGTAGTACCTGCTAGGACAATTTCTTGGCAATTGTCTTAC
TACTAGGGATCAGTAAGATTTAGATTCTGAGCCCATAATGGCAACAGCCCCCTCACCTATGGGAAGCTGACTTCCCTCAGTCGGGCACTT
CTCATGGGGGCTGAACATGGTTCCTGCCATTCTGTTACCCACTCTCCCAGGTGAGCCCTGGATTGGCTCCCAGAAGGCCTTTGTAAAATC
AGTAGCCGTCCTGCAGGCAGGTGGGAGCAACAGGGGCTTCAGTAGCTTCATTTTCCTGTCTTGCAGACAGAGACCCTTGGCTACCACTGT
GCTGCTAATAGGATAAGTACTCTGTTGCCAGATTACCATGCCTTTTATACAAAACCAAATTAACTTACCTAATACCTGACACCTCTTTGG
GCTCTGAACTGCTTTCTCTCATCAAGCATGCTAGCACTCTAGACAGAATTCTAGAAATTTGGCAGATAGTGGAAGCCTTTAATTGAACTT
ACTCCTTCGTTGACTGAAAGGAGTTTTAAATTCTGAGCTCCTGAGATACTGACTAGCAACCATGGAATGAATGTGTGACCAGAAAGTGGC
TTTGACACCAAGTGCTACTGTCCCTTTGTAATTGGCTTCTAACAGAATTCAACCAGAAATAATTGATAATGTGAATTTTTGTTAATTGTT
CACTTGTAGGAAAATAGAACATGTATCACCCTTTGTTAGGTAGACATGAACTTTTCCTGCACAAAGCCTTGCTTTTAGAGAATGCCCAAT
AAGGCAAGAAAAAGCATAGTAACTTGTGCTTTGAGAGCTCAATATTTGTATCTTATCAGTACAGAAGAAATATTTCTGTGTAACTTGATC
TTCTGTCTAGTACTTGTCTTATAGGTAACCAACACTGAAAACTTTGTAGTGATGACTACCAAAGAAATACATAGTAAAACAACCTTTTAT
TTCCAAATTGTTAAAGAGCCAGCCATTGATGCTGCTACATGAGTTCCATGCTCAAGAGCCATTGTAAGAGATTAAGGGGTTTCTAGGTTT
TTGGTGATTTTTTGTTTGTTTTTTTCTTTGTTTTTTAGGGTTTTTTTTTCTTCTTTAATTTTTTGATTAAAACATACACACAGCTGTTAG
CATAAAGTCGTGGGGGGCATTTTCTGGAATGCTCAGCAGTTCTGATTAACTGCCAAGCCCAGGTTGCCTCTCATGAGGCAACTGAAAAAA
TCCTGTGTCTTGATAGCATGGGTGCTGTGTGTGTGCATGTGTGTGTCTGCATTCATGCCTTAACTCGGGTTACTGCACAACTTTAGTTCT
TGACTTAGTCTGCACCGTCATCTAGATTGTATTGTACATCTCGGTCTGAACTTCATCCTGGCAAAAACAAAGTTGCAGGCACAACAGTTT
AAGAATGCATTCCTCCAGAAGAGTATCTGGTCAGGTTGACCCCTGAGCCTTCTTTGGACTTGATTTGGAACTTAGCCTGGAAAGCGAAAG
TGGACTGTCCAACAGAAAGATGTCAACAAGGAAAAGAGGAGAGCCAAGCGCTAGCATGCCTTTTGCCTCTGCATATCTGTGCACACTGTA
TGTTGTTCATGATAGCTTGTCTACAACTTGACTAGGTTGGAGTTCTGGTAATAGTGGCAATCTTGACATTCTTGGTCAGAGTTTAGAGAG
ATGTAAGACTTTCAATTAATGTCTTATTTACTCCTTTATGTTGATTAGTCTTTGATACATGTGCTGAATCAGAAACCTAAATAAAGATAA

>42800_42800_2_KITLG-CCDC6_KITLG_chr12_88974041_ENST00000347404_CCDC6_chr10_61612460_ENST00000263102_length(amino acids)=388AA_BP=14
MCWIAALPFLMKKTQQARAEQEEEFISNTLFKKIQALQKEKETLAVNYEKEEEFLTNELSRKLMQLQHEKAELEQHLEQEQEFQVNKLMK
KIKKLENDTISKQLTLEQLRREKIDLENTLEQEQEALVNRLWKRMDKLEAEKRILQEKLDQPVSAPPSPRDISMEIDSPENMMRHIRFLK
NEVERLKKQLRAAQLQHSEKMAQYLEEERHMREENLRLQRKLQREMERREALCRQLSESESSLEMDDERYFNEMSAQGLRPRTVSSPIPY
TPSPSSSRPISPGLSYASHTVGFTPPTSLTRAGMSYYNSPGLHVQHMGTSHGITRPSPRRSNSPDKFKRPTPPPSPNTQTPVQPPPPPPP

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Fusion Gene PPI Analysis for KITLG-CCDC6


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 KITLG-CCDC6


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 KITLG-CCDC6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneKITLGC0027654Embryonal Neoplasm2CTD_human
HgeneKITLGC0027658Neoplasms, Germ Cell and Embryonal2CTD_human
HgeneKITLGC0039590Testicular Neoplasms2CTD_human
HgeneKITLGC0153594Malignant neoplasm of testis2CTD_human
HgeneKITLGC0205851Germ cell tumor2CTD_human
HgeneKITLGC0205852Neoplasms, Embryonal and Mixed2CTD_human
HgeneKITLGC0740345Germ Cell Cancer2CTD_human
HgeneKITLGC0751364Cancer, Embryonal2CTD_human
HgeneKITLGC0751365Cancer, Embryonal and Mixed2CTD_human
HgeneKITLGC1720811Tumor of Rete Testis2CTD_human
HgeneKITLGC1840392HYPERPIGMENTATION, FAMILIAL PROGRESSIVE2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneKITLGC3711374Nonsyndromic Deafness2CLINGEN
HgeneKITLGC0007097Carcinoma1CTD_human
HgeneKITLGC0013221Drug toxicity1CTD_human
HgeneKITLGC0024667Animal Mammary Neoplasms1CTD_human
HgeneKITLGC0024668Mammary Neoplasms, Experimental1CTD_human
HgeneKITLGC0027430Nasal Polyps1CTD_human
HgeneKITLGC0041755Adverse reaction to drug1CTD_human
HgeneKITLGC0151744Myocardial Ischemia1CTD_human
HgeneKITLGC0205696Anaplastic carcinoma1CTD_human
HgeneKITLGC0205697Carcinoma, Spindle-Cell1CTD_human
HgeneKITLGC0205698Undifferentiated carcinoma1CTD_human
HgeneKITLGC0205699Carcinomatosis1CTD_human
HgeneKITLGC1257925Mammary Carcinoma, Animal1CTD_human
HgeneKITLGC1835039Melanosis, Universal1ORPHANET
HgeneKITLGC2700265Waardenburg Syndrome Type 21GENOMICS_ENGLAND;ORPHANET
HgeneKITLGC4225241DEAFNESS, AUTOSOMAL DOMINANT 691CTD_human;GENOMICS_ENGLAND
TgeneC0238463Papillary thyroid carcinoma2CTD_human;ORPHANET
TgeneC3501843Nonmedullary Thyroid Carcinoma1CTD_human
TgeneC3501844Familial Nonmedullary Thyroid Cancer1CTD_human