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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:C14orf37-KIR2DL3 (FusionGDB2 ID:HG145407TG3804)

Fusion Gene Summary for C14orf37-KIR2DL3

check button Fusion gene summary
Fusion gene informationFusion gene name: C14orf37-KIR2DL3
Fusion gene ID: hg145407tg3804
HgeneTgene
Gene symbol

C14orf37

KIR2DL3

Gene ID

145407

3804

Gene namearmadillo like helical domain containing 4killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3
SynonymsC14orf37|UT2|c14_5376CD158B2|CD158b|GL183|KIR-023GB|KIR-K7b|KIR-K7c|KIR2DL|KIR2DS5|KIRCL23|NKAT|NKAT2|NKAT2A|NKAT2B|p58
Cytomap('C14orf37')('KIR2DL3')

14q23.1

19q13.42

Type of geneprotein-codingprotein-coding
Descriptionarmadillo-like helical domain-containing protein 4uncharacterized protein C14orf37upstream of mTORC2killer cell immunoglobulin-like receptor 2DL3CD158 antigen-like family member B2NKAT-2killer cell immunoglobulin-like receptor two domains long cytoplasmic tail 3killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 5killer i
Modification date2020032020200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000267485, ENST00000334342, 
Fusion gene scores* DoF score5 X 3 X 4=605 X 5 X 3=75
# samples 55
** MAII scorelog2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C14orf37 [Title/Abstract] AND KIR2DL3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC14orf37(58598230)-KIR2DL3(55275343), # samples:1
C14orf37(58598230)-KIR2DL3(55290064), # samples:1
C14orf37(58598230)-KIR2DL3(55258787), # samples:1
Anticipated loss of major functional domain due to fusion event.C14orf37-KIR2DL3 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.
C14orf37-KIR2DL3 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

check buttonFusion gene breakpoints across C14orf37 (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 KIR2DL3 (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
ChimerDB4PRADTCGA-VP-A87DC14orf37chr14

58598230

-KIR2DL3chr19

55258787

+
ChimerDB4PRADTCGA-VP-A87DC14orf37chr14

58598230

-KIR2DL3chr19

55275343

+
ChimerDB4PRADTCGA-VP-A87DC14orf37chr14

58598230

-KIR2DL3chr19

55290064

+


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Fusion Gene ORF analysis for C14orf37-KIR2DL3

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-intronENST00000267485ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55275343

+
5CDS-intronENST00000267485ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55290064

+
5CDS-intronENST00000267485ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55258787

+
5CDS-intronENST00000267485ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55275343

+
5CDS-intronENST00000267485ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55290064

+
5UTR-3CDSENST00000334342ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55258787

+
5UTR-intronENST00000334342ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55275343

+
5UTR-intronENST00000334342ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55290064

+
5UTR-intronENST00000334342ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55258787

+
5UTR-intronENST00000334342ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55275343

+
5UTR-intronENST00000334342ENST00000434419C14orf37chr14

58598230

-KIR2DL3chr19

55290064

+
In-frameENST00000267485ENST00000342376C14orf37chr14

58598230

-KIR2DL3chr19

55258787

+

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)
ENST00000267485C14orf37chr1458598230-ENST00000342376KIR2DL3chr1955258787+292120261952387730

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
ENST00000267485ENST00000342376C14orf37chr1458598230-KIR2DL3chr1955258787+0.0034217330.9965783

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Fusion Genomic Features for C14orf37-KIR2DL3


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)
C14orf37chr1458598229-KIR2DL3chr1955275342+0.0343860540.96561396
C14orf37chr1458598229-KIR2DL3chr1955258786+0.0002584510.9997415
C14orf37chr1458598229-KIR2DL3chr1955275342+0.0343860540.96561396
C14orf37chr1458598229-KIR2DL3chr1955258786+0.0002584510.9997415

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 C14orf37-KIR2DL3


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/chr14:58598230/chr19:55275343)
- 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
TgeneKIR2DL3chr14:58598230chr19:55258787ENST0000034237638266_341221342.0Topological domainCytoplasmic
TgeneKIR2DL3chr14:58598230chr19:55258787ENST0000034237638246_265221342.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC14orf37chr14:58598230chr19:55258787ENST00000267485-48608_636610775.0Compositional biasNote=Glu-rich
HgeneC14orf37chr14:58598230chr19:55258787ENST00000267485-48740_743610775.0Compositional biasNote=Poly-Arg
HgeneC14orf37chr14:58598230chr19:55258787ENST00000267485-4828_714610775.0Topological domainExtracellular
HgeneC14orf37chr14:58598230chr19:55258787ENST00000267485-48736_774610775.0Topological domainCytoplasmic
HgeneC14orf37chr14:58598230chr19:55258787ENST00000267485-48715_735610775.0TransmembraneHelical
TgeneKIR2DL3chr14:58598230chr19:55258787ENST0000034237638142_205221342.0DomainNote=Ig-like C2-type 2
TgeneKIR2DL3chr14:58598230chr19:55258787ENST000003423763842_107221342.0DomainNote=Ig-like C2-type 1
TgeneKIR2DL3chr14:58598230chr19:55258787ENST000003423763822_245221342.0Topological domainExtracellular


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Fusion Gene Sequence for C14orf37-KIR2DL3


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.
>10918_10918_1_C14orf37-KIR2DL3_C14orf37_chr14_58598230_ENST00000267485_KIR2DL3_chr19_55258787_ENST00000342376_length(transcript)=2921nt_BP=2026nt
CTCCCCCTAGCGTCCCAGACAGCGGAGGGAGTCGCCGCCGCTACCGCCGCCGCCGCCGCAGGGCCCGCCGCTGGGATGCCGAGCGCCCGC
GCCGCCGCTGCCTCTGTCCTCCGCGCGCTGCTCAGCTGAAGGCGCACAGGATTCAATTACTGGACTTGTCAACTCTGCCAGTGTACGTGC
CATTTCTCTTCCACTATGAGAGGACCGATTGTATTGCACATTTGTCTGGCTTTCTGTAGCCTTCTGCTTTTCAGCGTTGCCACACAATGT
CTGGCCTTCCCCAAAATAGAAAGGAGGAGGGAGATAGCACATGTTCATGCGGAAAAAGGGCAGTCCGATAAGATGAACACCGATGACCTA
GAAAATAGCTCTGTTACCTCAAAGCAGACTCCCCAACTGGTGGTCTCTGAAGATCCAATGATGATGTCAGCAGTACCATCGGCAACATCA
TTAAATAAAGCATTCTCGATTAACAAAGAAACCCAGCCTGGACAAGCTGGGCTCATGCAAACAGAACGCCCTGGTGTTTCCACACCTACT
GAGTCAGGTGTCCCCTCAGCTGAAGAAGTATTTGGTTCCAGCCAGCCAGAGAGAATATCTCCTGAAAGTGGACTTGCCAAGGCCATGTTA
ACCATTGCTATCACTGCGACTCCTTCTCTGACTGTTGATGAAAAGGAGGAACTCCTTACAAGCACTAACTTTCAGCCCATTGTAGAAGAG
ATCACAGAAACCACAAAAGGTTTTCTGAAGTATATGGATAATCAATCATTTGCAACTGAAAGTCAGGAAGGAGTTGGTTTGGGACATTCA
CCTTCATCCTATGTGAATACTAAGGAAATGCTAACCACCAATCCAAAGACTGAGAAATTTGAAGCAGACACAGACCACAGGACAACTTCT
TTTCCTGGTGCTGAGTCCACAGCAGGCAGTGAGCCTGGAAGCCTCACCCCTGATAAGGAGAAGCCTTCGCAGATGACAGCTGATAACACC
CAGGCTGCTGCCACCAAGCAACCACTCGAAACTTCCGAGTACACCCTGAGTGTTGAGCCAGAAACTGATAGTCTGCTGGGAGCCCCAGAA
GTCACAGTGAGTGTCAGCACAGCTGTTCCAGCTGCCTCTGCCTTAAGTGATGAGTGGGATGACACCAAATTAGAGAGTGTAAGCCGGATA
AGGACCCCCAAGCTTGGAGACAATGAAGAGACTCAGGTGAGAACGGAGATGTCTCAGACAGCACAAGTAAGCCATGAGGGTATGGAAGGA
GGCCAGCCTTGGACAGAGGCTGCACAGGTGGCTCTGGGGCTGCCTGAAGGGGAAACACACACGGGCACAGCCCTGCTAATAGCGCATGGG
AATGAGAGATCACCTGCTTTCACTGATCAAAGTTCCTTTACCCCCACAAGTCTGATGGAAGACATGAAAGTTTCCATTGTGAACTTGCTC
CAAAGTACGGGAGACTTCACGGAATCCACCAAGGAAAACGATGCCCTGTTTTTCTTAGAAACCACTGTTTCTGTCTCTGTATATGAGTCT
GAGGCAGACCAACTGTTGGGAAATACAATGAAAGACATCATCACTCAAGAGATGACAACAGCTGTTCAAGAGCCAGATGCCACTTTATCC
ATGGTGACACAAGAGCAGGTTGCTACCCTCGAGCTTATCAGAGACAGTGGCAAGACTGAGGAAGAAAAGGAGGACCCCTCTCCTGTGTCT
GACGTTCCTGGTGTTACTCAGCTGTCAAGAAGATGGGAGCCTCTGGCCACTACAATTTCAACTACAGTCGTCCCTTTGTCTTTTGAAGTT
ACTCCCACTGTGGAAGAACAAATGGACACAGTCACAGGGCCAAATGAGGAGTTCACACCAGTTCTGGGATCTCCAGTGACACCTCCTGGA
ATAATGGTGGGGGAACCCAGCATTTCCCCTGCACTTCCTGCTTTGGAGGCATCCTCTGAGAGAAGAACTGTTGTTCCATCTATTACTCGT
GTTAATACAGCTGCCTCATATGGCCTGGACCAACTTGAATCTGAAGGAAACCCTTCAAATAGTTGGCCTTCACCCACTGAACCAAGCTCC
GAAACCGGTAACCCCAGACACCTGCATGTTCTGATTGGGACCTCAGTGGTCATCATCCTCTTCATCCTCCTCCTCTTCTTTCTCCTTCAT
CGCTGGTGCTGCAACAAAAAAAATGCTGTTGTAATGGACCAAGAGCCTGCAGGGAACAGAACAGTGAACAGGGAGGACTCTGATGAACAA
GACCCTCAGGAGGTGACATATGCACAGTTGAATCACTGCGTTTTCACACAGAGAAAAATCACTCGCCCTTCTCAGAGGCCCAAGACACCC
CCAACAGATATCATCGTGTACACGGAACTTCCAAATGCTGAGCCCTGATCCAAAGTTGTCTCCTGCCCATGAGCACCACAGTCAGGCCTT
GAGGGGATCTTCTAGGGAGACAACAGCCCTGTCTCAAAACTGGGTTGCCAGCTCCAATGTACCAGCAGCTGGAATCTGAAGGCGTGAGTC
TGCATCTTAGGGCATCGCTCTTCCTCACACCACAAATCTGAACGTGCCTCTCCCTTGCTTACAAATGTCTAAGGTCCCCACTGCCTGCTG
GAGAGAAAACACACTCCTTTGCTTAGCCCACAATTCTCCATTTCACTTGACCCCTGCCCACCTCTCCAACCTAACTGGCTTACTTCCTAG
TCTACTTGAGGCTGCAATCACACTGAGGAACTCACAATTCCAAACATACAAGAGGCTCCCTCTTAACACGGCACTTAGACACGTGCTGTT
CCACCTTCCCTCATGCTGTTCCACCTCCCCTCAGACTAGCTTTCAGCCTTCTGTCAGCAGTAAAACTTATATATTTTTTAAAATAATTTC

>10918_10918_1_C14orf37-KIR2DL3_C14orf37_chr14_58598230_ENST00000267485_KIR2DL3_chr19_55258787_ENST00000342376_length(amino acids)=730AA_BP=610
MRGPIVLHICLAFCSLLLFSVATQCLAFPKIERRREIAHVHAEKGQSDKMNTDDLENSSVTSKQTPQLVVSEDPMMMSAVPSATSLNKAF
SINKETQPGQAGLMQTERPGVSTPTESGVPSAEEVFGSSQPERISPESGLAKAMLTIAITATPSLTVDEKEELLTSTNFQPIVEEITETT
KGFLKYMDNQSFATESQEGVGLGHSPSSYVNTKEMLTTNPKTEKFEADTDHRTTSFPGAESTAGSEPGSLTPDKEKPSQMTADNTQAAAT
KQPLETSEYTLSVEPETDSLLGAPEVTVSVSTAVPAASALSDEWDDTKLESVSRIRTPKLGDNEETQVRTEMSQTAQVSHEGMEGGQPWT
EAAQVALGLPEGETHTGTALLIAHGNERSPAFTDQSSFTPTSLMEDMKVSIVNLLQSTGDFTESTKENDALFFLETTVSVSVYESEADQL
LGNTMKDIITQEMTTAVQEPDATLSMVTQEQVATLELIRDSGKTEEEKEDPSPVSDVPGVTQLSRRWEPLATTISTTVVPLSFEVTPTVE
EQMDTVTGPNEEFTPVLGSPVTPPGIMVGEPSISPALPALEASSERRTVVPSITRVNTAASYGLDQLESEGNPSNSWPSPTEPSSETGNP
RHLHVLIGTSVVIILFILLLFFLLHRWCCNKKNAVVMDQEPAGNRTVNREDSDEQDPQEVTYAQLNHCVFTQRKITRPSQRPKTPPTDII

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

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Fusion Gene PPI Analysis for C14orf37-KIR2DL3


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 C14orf37-KIR2DL3


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 C14orf37-KIR2DL3


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