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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:KIAA1244-TNNI3K (FusionGDB2 ID:HG57221TG51086)

Fusion Gene Summary for KIAA1244-TNNI3K

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1244-TNNI3K
Fusion gene ID: hg57221tg51086
HgeneTgene
Gene symbol

KIAA1244

TNNI3K

Gene ID

57221

51086

Gene nameARFGEF family member 3TNNI3 interacting kinase
SynonymsA7322|BIG3|C6orf92|KIAA1244|PPP1R33|dJ171N11.1CARK|CCDD
Cytomap('ARFGEF3','KIAA1244')('TNNI3K','TNNI3K')

6q23.3-q24.1

1p31.1

Type of geneprotein-codingprotein-coding
Descriptionbrefeldin A-inhibited guanine nucleotide-exchange protein 3protein phosphatase 1, regulatory subunit 33serine/threonine-protein kinase TNNI3Kcardiac ankyrin repeat kinasecardiac troponin I-interacting kinase
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000251691, 
Fusion gene scores* DoF score6 X 5 X 4=1205 X 5 X 4=100
# samples 56
** MAII scorelog2(5/120*10)=-1.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/100*10)=-0.736965594166206
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1244 [Title/Abstract] AND TNNI3K [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARFGEF3(138483308)-TNNI3K(74902158), # samples:1
KIAA1244(138483308)-TNNI3K(74902158), # samples:1
Anticipated loss of major functional domain due to fusion event.KIAA1244-TNNI3K 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.
KIAA1244-TNNI3K 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.
KIAA1244-TNNI3K 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.
KIAA1244-TNNI3K 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
HgeneKIAA1244

GO:0010923

negative regulation of phosphatase activity

19389623

TgeneTNNI3K

GO:0006468

protein phosphorylation

12721663


check buttonFusion gene breakpoints across KIAA1244 (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 TNNI3K (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
ChimerDB4BRCATCGA-AN-A0AM-01AARFGEF3chr6

138483308

+TNNI3Kchr1

74902158

+
ChimerDB4BRCATCGA-AN-A0AM-01AKIAA1244chr6

138483308

+TNNI3Kchr1

74902158

+


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Fusion Gene ORF analysis for KIAA1244-TNNI3K

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-intronENST00000251691ENST00000465473KIAA1244chr6

138483308

+TNNI3Kchr1

74902158

+
In-frameENST00000251691ENST00000326637KIAA1244chr6

138483308

+TNNI3Kchr1

74902158

+
In-frameENST00000251691ENST00000370891KIAA1244chr6

138483308

+TNNI3Kchr1

74902158

+

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)
ENST00000251691KIAA1244chr6138483308+ENST00000370891TNNI3Kchr174902158+1376251166933255
ENST00000251691KIAA1244chr6138483308+ENST00000326637TNNI3Kchr174902158+1376251166933255

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
ENST00000251691ENST00000370891KIAA1244chr6138483308+TNNI3Kchr174902158+0.024547910.97545207
ENST00000251691ENST00000326637KIAA1244chr6138483308+TNNI3Kchr174902158+0.024547910.97545207

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Fusion Genomic Features for KIAA1244-TNNI3K


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)
KIAA1244chr6138483308+TNNI3Kchr174902157+0.0017934160.9982066
KIAA1244chr6138483308+TNNI3Kchr174902157+0.0017934160.9982066

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 KIAA1244-TNNI3K


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/chr6:138483308/chr1:74902158)
- 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
..
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}.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
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725733_746608836.0Compositional biasNote=Poly-Ser
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927733_746709937.0Compositional biasNote=Poly-Ser

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneKIAA1244chr6:138483308chr1:74902158ENST00000251691+134583_796282178.0DomainNote=SEC7
HgeneKIAA1244chr6:138483308chr1:74902158ENST00000251691+1341492_1512282178.0TransmembraneHelical
TgeneTNNI3Kchr6:138483308chr1:74902158ENST00000326637172521_51608836.0Coiled coilOntology_term=ECO:0000255
TgeneTNNI3Kchr6:138483308chr1:74902158ENST00000370891192721_51709937.0Coiled coilOntology_term=ECO:0000255
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725463_723608836.0DomainProtein kinase
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927463_723709937.0DomainProtein kinase
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725469_477608836.0Nucleotide bindingATP
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927469_477709937.0Nucleotide bindingATP
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725100_129608836.0RepeatNote=ANK 2
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725133_162608836.0RepeatNote=ANK 3
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725166_195608836.0RepeatNote=ANK 4
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725199_228608836.0RepeatNote=ANK 5
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725234_263608836.0RepeatNote=ANK 6
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725269_298608836.0RepeatNote=ANK 7
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725304_335608836.0RepeatNote=ANK 8
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725339_368608836.0RepeatNote=ANK 9
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003266371725381_410608836.0RepeatNote=ANK 10
TgeneTNNI3Kchr6:138483308chr1:74902158ENST00000326637172566_96608836.0RepeatNote=ANK 1
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927100_129709937.0RepeatNote=ANK 2
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927133_162709937.0RepeatNote=ANK 3
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927166_195709937.0RepeatNote=ANK 4
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927199_228709937.0RepeatNote=ANK 5
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927234_263709937.0RepeatNote=ANK 6
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927269_298709937.0RepeatNote=ANK 7
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927304_335709937.0RepeatNote=ANK 8
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927339_368709937.0RepeatNote=ANK 9
TgeneTNNI3Kchr6:138483308chr1:74902158ENST000003708911927381_410709937.0RepeatNote=ANK 10
TgeneTNNI3Kchr6:138483308chr1:74902158ENST00000370891192766_96709937.0RepeatNote=ANK 1


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Fusion Gene Sequence for KIAA1244-TNNI3K


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.
>42296_42296_1_KIAA1244-TNNI3K_KIAA1244_chr6_138483308_ENST00000251691_TNNI3K_chr1_74902158_ENST00000326637_length(transcript)=1376nt_BP=251nt
CCGCGGCATGGAGCGGGCGTGATTCATCAGCATCCGCGCCGGGGCGGCATGGGGGCGCGCGCGGCGGCCGCCTAGGCGCCCAGGGCCAGG
CAGCGGCGGCTTCCCCGGCCCGGCTCGCCCGCGCTTCTCTCCCTGTGGGCGGCGGCCCGGCGCCTGGAAGGTCAAGATGGAAGAAATCCT
GAGGAAGCTGCAGAAGGAGGCGTCCGGGAGCAAGTACAAAGCCATCAAGGAGAGCTGCACCTGGGCCCTGGAATCAAGATTTCTACAGTC
TCTGGATGAAGACAACATGACAAAACAACCTGGGAACCTCCGTTGGATGGCTCCTGAGGTGTTCACGCAGTGCACTCGGTACACCATCAA
AGCAGATGTCTTCAGCTATGCTCTGTGTCTGTGGGAAATTCTCACTGGCGAAATTCCATTCGCTCATCTCAAGCCAGCGGCTGCGGCAGC
AGACATGGCTTACCACCACATCAGACCTCCCATTGGCTATTCCATTCCCAAGCCCATATCATCTCTGCTGATACGAGGGTGGAACGCATG
TCCTGAAGGAAGACCCGAATTTTCTGAAGTTGTCATGAAGTTAGAAGAGTGTCTCTGCAACATTGAGCTGATGTCTCCTGCATCAAGTAA
CAGCAGTGGGTCTCTCTCACCTTCTTCTTCTTCTGATTGCCTGGTGAACCGGGGAGGACCTGGCCGGAGTCATGTGGCAGCATTAAGAAG
TCGTTTCGAATTGGAATATGCTCTAAATGCAAGGTCCTATGCTGCTTTGTCCCAAAGTGCTGGACAATATTCCTCTCAAGGTCTGTCTTT
GGAGGAGATGAAAAGAAGTCTTCAATACACACCCATTGACAAATATGGCTATGTATCCGATCCCATGAGCTCAATGCATTTTCATTCTTG
CCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGACAGCATTCGGCGTATACCTAAGGAGAGTTTTTTCCCCGAACTGACAGCAACGATTC
CAACCACGGCAAGCTGGCTTCCAACTATAACATTTTACTCTCAAAGGTCTCCTTAAATTGGGCTTGTTTTTACTTGTCCTATTTAATTCC
CCACTATTAGCAGGCTTTGGATTTGTGCCTAAGGAATAATATGCAAAAGAACCAAGACAGAATGTATATGAAGAATTGTTTTTAATTTTG
TAAATTAAAAAAAAATTTAGATCGTTACTTGGAAATGGAGCCTAAGTCTGTGGTGGACAGATAATAATTATGTTTTCCTGGGCTGAATTA
TGTAGACTTGTGTTTGACAGCTATGGGTTTATTTCTTAGAACATTGTTCATTTTCTTTTCTCATTATGTTACTTCTAGTGTTCACCTCTG

>42296_42296_1_KIAA1244-TNNI3K_KIAA1244_chr6_138483308_ENST00000251691_TNNI3K_chr1_74902158_ENST00000326637_length(amino acids)=255AA_BP=28
MEEILRKLQKEASGSKYKAIKESCTWALESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKP
AAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHV

--------------------------------------------------------------
>42296_42296_2_KIAA1244-TNNI3K_KIAA1244_chr6_138483308_ENST00000251691_TNNI3K_chr1_74902158_ENST00000370891_length(transcript)=1376nt_BP=251nt
CCGCGGCATGGAGCGGGCGTGATTCATCAGCATCCGCGCCGGGGCGGCATGGGGGCGCGCGCGGCGGCCGCCTAGGCGCCCAGGGCCAGG
CAGCGGCGGCTTCCCCGGCCCGGCTCGCCCGCGCTTCTCTCCCTGTGGGCGGCGGCCCGGCGCCTGGAAGGTCAAGATGGAAGAAATCCT
GAGGAAGCTGCAGAAGGAGGCGTCCGGGAGCAAGTACAAAGCCATCAAGGAGAGCTGCACCTGGGCCCTGGAATCAAGATTTCTACAGTC
TCTGGATGAAGACAACATGACAAAACAACCTGGGAACCTCCGTTGGATGGCTCCTGAGGTGTTCACGCAGTGCACTCGGTACACCATCAA
AGCAGATGTCTTCAGCTATGCTCTGTGTCTGTGGGAAATTCTCACTGGCGAAATTCCATTCGCTCATCTCAAGCCAGCGGCTGCGGCAGC
AGACATGGCTTACCACCACATCAGACCTCCCATTGGCTATTCCATTCCCAAGCCCATATCATCTCTGCTGATACGAGGGTGGAACGCATG
TCCTGAAGGAAGACCCGAATTTTCTGAAGTTGTCATGAAGTTAGAAGAGTGTCTCTGCAACATTGAGCTGATGTCTCCTGCATCAAGTAA
CAGCAGTGGGTCTCTCTCACCTTCTTCTTCTTCTGATTGCCTGGTGAACCGGGGAGGACCTGGCCGGAGTCATGTGGCAGCATTAAGAAG
TCGTTTCGAATTGGAATATGCTCTAAATGCAAGGTCCTATGCTGCTTTGTCCCAAAGTGCTGGACAATATTCCTCTCAAGGTCTGTCTTT
GGAGGAGATGAAAAGAAGTCTTCAATACACACCCATTGACAAATATGGCTATGTATCCGATCCCATGAGCTCAATGCATTTTCATTCTTG
CCGAAATAGTAGCAGCTTTGAGGACAGCAGCTGACAGCATTCGGCGTATACCTAAGGAGAGTTTTTTCCCCGAACTGACAGCAACGATTC
CAACCACGGCAAGCTGGCTTCCAACTATAACATTTTACTCTCAAAGGTCTCCTTAAATTGGGCTTGTTTTTACTTGTCCTATTTAATTCC
CCACTATTAGCAGGCTTTGGATTTGTGCCTAAGGAATAATATGCAAAAGAACCAAGACAGAATGTATATGAAGAATTGTTTTTAATTTTG
TAAATTAAAAAAAAATTTAGATCGTTACTTGGAAATGGAGCCTAAGTCTGTGGTGGACAGATAATAATTATGTTTTCCTGGGCTGAATTA
TGTAGACTTGTGTTTGACAGCTATGGGTTTATTTCTTAGAACATTGTTCATTTTCTTTTCTCATTATGTTACTTCTAGTGTTCACCTCTG

>42296_42296_2_KIAA1244-TNNI3K_KIAA1244_chr6_138483308_ENST00000251691_TNNI3K_chr1_74902158_ENST00000370891_length(amino acids)=255AA_BP=28
MEEILRKLQKEASGSKYKAIKESCTWALESRFLQSLDEDNMTKQPGNLRWMAPEVFTQCTRYTIKADVFSYALCLWEILTGEIPFAHLKP
AAAAADMAYHHIRPPIGYSIPKPISSLLIRGWNACPEGRPEFSEVVMKLEECLCNIELMSPASSNSSGSLSPSSSSDCLVNRGGPGRSHV

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

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Fusion Gene PPI Analysis for KIAA1244-TNNI3K


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 KIAA1244-TNNI3K


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 KIAA1244-TNNI3K


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4015285CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY2CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneC3495676Anorectal Malformations1GENOMICS_ENGLAND