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	Fusion Gene Summary
	Fusion Gene ORF analysis
	Fusion Genomic Features
	Fusion Protein Features
	Fusion Gene Sequence
	Fusion Gene PPI analysis
	Related Drugs
	Related Diseases

Fusion gene:C14orf37-KIR2DL3 (FusionGDB2 ID:10918)

Fusion Gene Summary for C14orf37-KIR2DL3

Fusion gene summary

Fusion gene information	Fusion gene name: C14orf37-KIR2DL3
	Fusion gene ID: 10918
		Hgene	Tgene
	Gene symbol	C14orf37	KIR2DL3
	Gene ID	145407	3804
	Gene name	armadillo like helical domain containing 4	killer cell immunoglobulin like receptor, two Ig domains and long cytoplasmic tail 3
	Synonyms	C14orf37\|UT2\|c14_5376	CD158B2\|CD158b\|GL183\|KIR-023GB\|KIR-K7b\|KIR-K7c\|KIR2DL\|KIR2DS5\|KIRCL23\|NKAT\|NKAT2\|NKAT2A\|NKAT2B\|p58
	Cytomap	14q23.1	19q13.42
	Type of gene	protein-coding	protein-coding
	Description	armadillo-like helical domain-containing protein 4uncharacterized protein C14orf37upstream of mTORC2	killer 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 date	20200320	20200313
	UniProtAcc	.	P43628
	Ensembl transtripts involved in fusion gene	ENST00000267485, ENST00000334342,	ENST00000342376, ENST00000434419,
Fusion gene scores	* DoF score	5 X 3 X 4=60	5 X 5 X 3=75
	# samples	5	5
	** MAII score	log2(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 breakpoint	C14orf37(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.

* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner

Gene

GO ID

GO term

PubMed ID

Fusion 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.

Fusion 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.

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.

Source	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
ChimerDB4	PRAD	TCGA-VP-A87D	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+
ChimerDB4	PRAD	TCGA-VP-A87D	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55275343	+
ChimerDB4	PRAD	TCGA-VP-A87D	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55290064	+

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Fusion Gene ORF analysis for C14orf37-KIR2DL3

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
5CDS-intron	ENST00000267485	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55275343	+
5CDS-intron	ENST00000267485	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55290064	+
5CDS-intron	ENST00000267485	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+
5CDS-intron	ENST00000267485	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55275343	+
5CDS-intron	ENST00000267485	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55290064	+
5UTR-3CDS	ENST00000334342	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+
5UTR-intron	ENST00000334342	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55275343	+
5UTR-intron	ENST00000334342	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55290064	+
5UTR-intron	ENST00000334342	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+
5UTR-intron	ENST00000334342	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55275343	+
5UTR-intron	ENST00000334342	ENST00000434419	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55290064	+
In-frame	ENST00000267485	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+

ORFfinder result based on the fusion transcript sequence of in-frame fusion genes.

Henst

Tenst

Hgene

Hchr

Hbp

Hstrand

Tgene

Tchr

Tbp

Tstrand

Seq length
(transcript)

BP loci
(transcript)

Predicted start
(transcript)

Predicted stop
(transcript)

Seq length
(amino acids)

ENST00000267485

C14orf37

chr14

58598230

ENST00000342376

KIR2DL3

chr19

55258787

2921

2026

195

2387

730

DeepORF 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.

Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	No-coding score	Coding score
ENST00000267485	ENST00000342376	C14orf37	chr14	58598230	-	KIR2DL3	chr19	55258787	+	0.003421733	0.9965783

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Fusion Genomic Features for C14orf37-KIR2DL3

FusionAI 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.

Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand	1-p	p (fusion gene breakpoint)
C14orf37	chr14	58598229	-	KIR2DL3	chr19	55275342	+	0.034386054	0.96561396
C14orf37	chr14	58598229	-	KIR2DL3	chr19	55258786	+	0.000258451	0.9997415
C14orf37	chr14	58598229	-	KIR2DL3	chr19	55275342	+	0.034386054	0.96561396
C14orf37	chr14	58598229	-	KIR2DL3	chr19	55258786	+	0.000258451	0.9997415

Distribution 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.

Distribution 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 C14orf37-KIR2DL3

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	KIR2DL3 P43628
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: Receptor on natural killer (NK) cells for HLA-C alleles (HLA-Cw1, HLA-Cw3 and HLA-Cw7). Inhibits the activity of NK cells thus preventing cell lysis.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Tgene

KIR2DL3

chr14:58598230

chr19:55258787

ENST00000342376

266_341

221

342.0

Topological domain

Cytoplasmic

Tgene

KIR2DL3

chr14:58598230

chr19:55258787

ENST00000342376

246_265

221

342.0

Transmembrane

Helical

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

Hgene

C14orf37

chr14:58598230

chr19:55258787

ENST00000267485

608_636

610

775.0

Compositional bias

Note=Glu-rich

Hgene

C14orf37

chr14:58598230

chr19:55258787

ENST00000267485

740_743

610

775.0

Compositional bias

Note=Poly-Arg

Hgene

C14orf37

chr14:58598230

chr19:55258787

ENST00000267485

28_714

610

775.0

Topological domain

Extracellular

Hgene

C14orf37

chr14:58598230

chr19:55258787

ENST00000267485

736_774

610

775.0

Topological domain

Cytoplasmic

Hgene

C14orf37

chr14:58598230

chr19:55258787

ENST00000267485

715_735

610

775.0

Transmembrane

Helical

Tgene

KIR2DL3

chr14:58598230

chr19:55258787

ENST00000342376

142_205

221

342.0

Domain

Note=Ig-like C2-type 2

Tgene

KIR2DL3

chr14:58598230

chr19:55258787

ENST00000342376

42_107

221

342.0

Domain

Note=Ig-like C2-type 1

Tgene

KIR2DL3

chr14:58598230

chr19:55258787

ENST00000342376

22_245

221

342.0

Topological domain

Extracellular

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Fusion Gene Sequence for C14orf37-KIR2DL3

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

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene

Hgene's interactors

Tgene

Tgene's interactors

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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Related Drugs for C14orf37-KIR2DL3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases for C14orf37-KIR2DL3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source