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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:KIAA1217-KLF6 (FusionGDB2 ID:42275)

Fusion Gene Summary for KIAA1217-KLF6

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1217-KLF6
Fusion gene ID: 42275
HgeneTgene
Gene symbol

KIAA1217

KLF6

Gene ID

56243

1316

Gene nameKIAA1217Kruppel like factor 6
SynonymsETL4|SKTBCD1|CBA1|COPEB|CPBP|GBF|PAC1|ST12|ZF9
Cytomap

10p12.2-p12.1

10p15.2

Type of geneprotein-codingprotein-coding
Descriptionsickle tail protein homologlikely orthologue of Mus musculus enhancer trap locus 4Krueppel-like factor 6B-cell-derived protein 1GC-rich binding factorGC-rich sites-binding factor GBFKruppel-like zinc finger protein Zf9core promoter element-binding proteinproto-oncogene BCD1protooncogene B-cell derived 1suppression of tumorigeni
Modification date2020031320200313
UniProtAcc

Q5T5P2

Q99612

Ensembl transtripts involved in fusion geneENST00000307544, ENST00000376451, 
ENST00000376452, ENST00000376454, 
ENST00000376462, ENST00000396445, 
ENST00000396446, ENST00000430453, 
ENST00000458595, ENST00000481700, 
ENST00000173785, ENST00000469435, 
ENST00000497571, ENST00000542957, 
Fusion gene scores* DoF score22 X 21 X 11=508210 X 10 X 2=200
# samples 2410
** MAII scorelog2(24/5082*10)=-4.40429006444484
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(10/200*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1217 [Title/Abstract] AND KLF6 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA1217(24762989)-KLF6(3824406), # samples:1
Anticipated loss of major functional domain due to fusion event.KIAA1217-KLF6 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
KIAA1217-KLF6 seems lost the major protein functional domain in Tgene partner, which is a CGC due to the frame-shifted ORF.
KIAA1217-KLF6 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
KIAA1217-KLF6 seems lost the major protein functional domain in Tgene partner, which is a transcription factor due to the frame-shifted ORF.
KIAA1217-KLF6 seems lost the major protein functional domain in Tgene partner, which is a tumor suppressor 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
TgeneKLF6

GO:0045944

positive regulation of transcription by RNA polymerase II

18755691


check buttonFusion gene breakpoints across KIAA1217 (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 KLF6 (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
ChimerDB4STADTCGA-HU-A4GH-01AKIAA1217chr10

24762989

+KLF6chr10

3824406

-


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Fusion Gene ORF analysis for KIAA1217-KLF6

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-intronENST00000307544ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000307544ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376451ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376451ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376452ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376452ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376454ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376454ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376462ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000376462ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000396445ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000396445ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000396446ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000396446ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000430453ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000430453ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000458595ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
5CDS-intronENST00000458595ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000307544ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000307544ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376451ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376451ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376452ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376452ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376454ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376454ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376462ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000376462ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000396445ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000396445ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000396446ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000396446ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000430453ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000430453ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000458595ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
Frame-shiftENST00000458595ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
intron-3CDSENST00000481700ENST00000497571KIAA1217chr10

24762989

+KLF6chr10

3824406

-
intron-3CDSENST00000481700ENST00000542957KIAA1217chr10

24762989

+KLF6chr10

3824406

-
intron-intronENST00000481700ENST00000173785KIAA1217chr10

24762989

+KLF6chr10

3824406

-
intron-intronENST00000481700ENST00000469435KIAA1217chr10

24762989

+KLF6chr10

3824406

-

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 KIAA1217-KLF6


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 KIAA1217-KLF6


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/:24762989/:3824406)
- 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
KIAA1217

Q5T5P2

KLF6

Q99612

FUNCTION: Required for normal development of intervertebral disks. {ECO:0000250|UniProtKB:A2AQ25}.FUNCTION: Transcriptional activator (By similarity). Binds a GC box motif. Could play a role in B-cell growth and development. {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 KIAA1217-KLF6


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 KIAA1217-KLF6


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 KIAA1217-KLF6


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 KIAA1217-KLF6


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