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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:KIAA1467-DSP

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: KIAA1467-DSP
FusionPDB ID: 42357
FusionGDB2.0 ID: 42357
HgeneTgene
Gene symbol

KIAA1467

DSP

Gene ID

57613

1834

Gene namefamily with sequence similarity 234 member Bdentin sialophosphoprotein
SynonymsKIAA1467DFNA39|DGI1|DMP3|DPP|DSP
Cytomap

12p13.1

4q22.1

Type of geneprotein-codingprotein-coding
Descriptionprotein FAM234Bdentin sialophosphoproteindeafness, autosomal dominant 39dentin phosphophoryndentin phosphoproteindentin phosphoryndentin sialoprotein
Modification date2020031320200313
UniProtAcc.

P15924

Ensembl transtripts involved in fusion geneENST idsENST00000197268, ENST00000535974, 
ENST00000418664, ENST00000379802, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score5 X 4 X 5=10022 X 19 X 10=4180
# samples 826
** MAII scorelog2(8/100*10)=-0.321928094887362
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(26/4180*10)=-4.00691941393979
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: KIAA1467 [Title/Abstract] AND DSP [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)KIAA1467(13229077)-DSP(7582875), # samples:1
Anticipated loss of major functional domain due to fusion event.KIAA1467-DSP 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.
KIAA1467-DSP 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.
KIAA1467-DSP 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.
KIAA1467-DSP 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.
KIAA1467-DSP 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

check buttonFusion gene breakpoints across KIAA1467 (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 DSP (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
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-B6-A1KC-01BKIAA1467chr12

13229077

+DSPchr6

7582875

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000197268KIAA1467chr1213229077+ENST00000379802DSPchr67582875+58381762182849981056

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
ENST00000197268ENST00000379802KIAA1467chr1213229077+DSPchr67582875+0.0050806640.99491936

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>42357_42357_1_KIAA1467-DSP_KIAA1467_chr12_13229077_ENST00000197268_DSP_chr6_7582875_ENST00000379802_length(amino acids)=1056AA_BP=
MVKIKVLEQDKARLQRLEDELNRAKSTLEAETRVKQRLECEKQQIQNDLNQWKTQYSRKEEAIRKIESEREKSEREKNSLRSEIERLQAE
IKRIEERCRRKLEDSTRETQSQLETERSRYQREIDKLRQRPYGSHRETQTECEWTVDTSKLVFDGLRKKVTAMQLYECQLIDKTTLDKLL
KGKKSVEEVASEIQPFLRGAGSIAGASASPKEKYSLVEAKRKKLISPESTVMLLEAQAATGGIIDPHRNEKLTVDSAIARDLIDFDDRQQ
IYAAEKAITGFDDPFSGKTVSVSEAIKKNLIDRETGMRLLEAQIASGGVVDPVNSVFLPKDVALARGLIDRDLYRSLNDPRDSQKNFVDP
VTKKKVSYVQLKERCRIEPHTGLLLLSVQKRSMSFQGIRQPVTVTELVDSGILRPSTVNELESGQISYDEVGERIKDFLQGSSCIAGIYN
ETTKQKLGIYEAMKIGLVRPGTALELLEAQAATGFIVDPVSNLRLPVEEAYKRGLVGIEFKEKLLSAERAVTGYNDPETGNIISLFQAMN
KELIEKGHGIRLLEAQIATGGIIDPKESHRLPVDIAYKRGYFNEELSEILSDPSDDTKGFFDPNTEENLTYLQLKERCIKDEETGLCLLP
LKEKKKQVQTSQKNTLRKRRVVIVDPETNKEMSVQEAYKKGLIDYETFKELCEQECEWEEITITGSDGSTRVVLVDRKTGSQYDIQDAID
KGLVDRKFFDQYRSGSLSLTQFADMISLKNGVGTSSSMGSGVSDDVFSSSRHESVSKISTISSVRNLTIRSSSFSDTLEESSPIAAIFDT
ENLEKISITEGIERGIVDSITGQRLLEAQACTGGIIHPTTGQKLSLQDAVSQGVIDQDMATRLKPAQKAFIGFEGVKGKKKMSAAEAVKE
KWLPYEAGQRFLEFQYLTGGLVDPEVHGRISTEEAIRKGFIDGRAAQRLQDTSSYAKILTCPKTKLKISYKDAINRSMVEDITGLRLLEA

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Fusion Protein Functional Features


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/chr12:13229077/chr6:7582875)
- 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
.DSP

P15924

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Major high molecular weight protein of desmosomes. Involved in the organization of the desmosomal cadherin-plakoglobin complexes into discrete plasma membrane domains and in the anchoring of intermediate filaments to the desmosomes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKIAA1467chr12:13229077chr6:7582875ENST00000197268+1113104_124547.3333333333334623.0TransmembraneHelical
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241946_28711793.02872.0RegionNote=Globular 2
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241960_22081793.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242244_24461793.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242609_28221793.02872.0RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242824_28471793.02872.0RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241946_28711194.02273.0RegionNote=Globular 2
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241960_22081194.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain A)
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242244_24461194.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain B)
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242609_28221194.02273.0RegionNote=4.5 X 38 AA tandem repeats (Domain C)
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242824_28471194.02273.0RegionNote=6 X 4 AA tandem repeats of G-S-R-[SR]
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242009_20451793.02872.0RepeatNote=Plectin 1
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242046_20831793.02872.0RepeatNote=Plectin 2
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242084_21211793.02872.0RepeatNote=Plectin 3
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242122_21591793.02872.0RepeatNote=Plectin 4
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242163_21971793.02872.0RepeatNote=Plectin 5
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242198_22331793.02872.0RepeatNote=Plectin 6
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242251_22881793.02872.0RepeatNote=Plectin 7
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242289_23261793.02872.0RepeatNote=Plectin 8
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242327_23641793.02872.0RepeatNote=Plectin 9
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242365_24021793.02872.0RepeatNote=Plectin 10
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242406_24401793.02872.0RepeatNote=Plectin 11
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242456_24931793.02872.0RepeatNote=Plectin 12
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242507_25441793.02872.0RepeatNote=Plectin 13
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242610_26471793.02872.0RepeatNote=Plectin 14
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242648_26851793.02872.0RepeatNote=Plectin 15
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242724_27611793.02872.0RepeatNote=Plectin 16
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222242762_27991793.02872.0RepeatNote=Plectin 17
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242009_20451194.02273.0RepeatNote=Plectin 1
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242046_20831194.02273.0RepeatNote=Plectin 2
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242084_21211194.02273.0RepeatNote=Plectin 3
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242122_21591194.02273.0RepeatNote=Plectin 4
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242163_21971194.02273.0RepeatNote=Plectin 5
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242198_22331194.02273.0RepeatNote=Plectin 6
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242251_22881194.02273.0RepeatNote=Plectin 7
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242289_23261194.02273.0RepeatNote=Plectin 8
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242327_23641194.02273.0RepeatNote=Plectin 9
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242365_24021194.02273.0RepeatNote=Plectin 10
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242406_24401194.02273.0RepeatNote=Plectin 11
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242456_24931194.02273.0RepeatNote=Plectin 12
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242507_25441194.02273.0RepeatNote=Plectin 13
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242610_26471194.02273.0RepeatNote=Plectin 14
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242648_26851194.02273.0RepeatNote=Plectin 15
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242724_27611194.02273.0RepeatNote=Plectin 16
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422242762_27991194.02273.0RepeatNote=Plectin 17

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241018_19451793.02872.0Coiled coilOntology_term=ECO:0000255
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241018_19451194.02273.0Coiled coilOntology_term=ECO:0000255
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224458_5151793.02872.0DomainSH3
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224458_5151194.02273.0DomainSH3
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241057_19451793.02872.0RegionNote=Central fibrous rod domain
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241_10561793.02872.0RegionNote=Globular 1
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241057_19451194.02273.0RegionNote=Central fibrous rod domain
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241_10561194.02273.0RegionNote=Globular 1
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224178_2711793.02872.0RepeatNote=Spectrin 1
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224272_3751793.02872.0RepeatNote=Spectrin 2
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224376_4461793.02872.0RepeatNote=Spectrin 3a
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224516_5451793.02872.0RepeatNote=Spectrin 3b
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224546_6271793.02872.0RepeatNote=Spectrin 4
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224654_7691793.02872.0RepeatNote=Spectrin 5
TgeneDSPchr12:13229077chr6:7582875ENST000003798022224770_8831793.02872.0RepeatNote=Spectrin 6
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224178_2711194.02273.0RepeatNote=Spectrin 1
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224272_3751194.02273.0RepeatNote=Spectrin 2
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224376_4461194.02273.0RepeatNote=Spectrin 3a
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224516_5451194.02273.0RepeatNote=Spectrin 3b
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224546_6271194.02273.0RepeatNote=Spectrin 4
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224654_7691194.02273.0RepeatNote=Spectrin 5
TgeneDSPchr12:13229077chr6:7582875ENST000004186642224770_8831194.02273.0RepeatNote=Spectrin 6


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Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
KIAA1467
DSP


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneDSPchr12:13229077chr6:7582875ENST0000037980222241_5841793.02872.0plakophilin 1 and junction plakoglobin
TgeneDSPchr12:13229077chr6:7582875ENST0000041866422241_5841194.02273.0plakophilin 1 and junction plakoglobin


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Related Drugs to KIAA1467-DSP


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to KIAA1467-DSP


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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