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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:SARS-KIAA1324 (FusionGDB2 ID:78719)

Fusion Gene Summary for SARS-KIAA1324

check button Fusion gene summary
Fusion gene informationFusion gene name: SARS-KIAA1324
Fusion gene ID: 78719
HgeneTgene
Gene symbol

SARS

KIAA1324

Gene ID

54938

57535

Gene nameseryl-tRNA synthetase 2, mitochondrialendosome-lysosome associated apoptosis and autophagy regulator 1
SynonymsSARS|SARSM|SERS|SYS|SerRS|SerRSmt|mtSerRSEIG121|KIAA1324
Cytomap

19q13.2

1p13.3

Type of geneprotein-codingprotein-coding
Descriptionserine--tRNA ligase, mitochondrialmitochondrial seryl-tRNA synthetaseserine tRNA ligase 2, mitochondrialseryl-tRNA synthetase, mitochondrialseryl-tRNA(Ser/Sec) synthetaseUPF0577 protein KIAA1324estrogen-induced gene 121 proteinmaba1
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000234677, ENST00000369923, 
ENST00000468588, 		ENST00000369939, 
ENST00000529753, ENST00000369938, 
Fusion gene scores* DoF score4 X 7 X 3=848 X 10 X 7=560
# samples 513
** MAII scorelog2(5/84*10)=-0.748461233004036
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(13/560*10)=-2.10691520391651
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SARS [Title/Abstract] AND KIAA1324 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointSARS(109766670)-KIAA1324(109704516), # samples:7
Anticipated loss of major functional domain due to fusion event.SARS-KIAA1324 seems lost the major protein functional domain in Hgene partner, which is a essential gene 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 SARS (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 KIAA1324 (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
ChimerDB4BRCATCGA-A7-A3J0-01ASARSchr1

109766670

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109766670

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109766670

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109756750

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-06ASARSchr1

109766670

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-A7-A3J0-01ASARSchr1

109766670

+KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109766670

-KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-06ASARSchr1

109766670

-KIAA1324chr1

109704516

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109756749

+KIAA1324chr1

109704515

+
ChimerDB4BRCATCGA-BH-A18V-01ASARSchr1

109766669

+KIAA1324chr1

109704515

+


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Fusion Gene ORF analysis for SARS-KIAA1324

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
In-frameENST00000234677ENST00000369939SARSchr1

109766670

+KIAA1324chr1

109704516

+
In-frameENST00000234677ENST00000529753SARSchr1

109766670

+KIAA1324chr1

109704516

+
5CDS-intronENST00000234677ENST00000369938SARSchr1

109766670

+KIAA1324chr1

109704516

+
In-frameENST00000369923ENST00000369939SARSchr1

109766670

+KIAA1324chr1

109704516

+
In-frameENST00000369923ENST00000529753SARSchr1

109766670

+KIAA1324chr1

109704516

+
5CDS-intronENST00000369923ENST00000369938SARSchr1

109766670

+KIAA1324chr1

109704516

+
intron-3CDSENST00000468588ENST00000369939SARSchr1

109766670

+KIAA1324chr1

109704516

+
intron-3CDSENST00000468588ENST00000529753SARSchr1

109766670

+KIAA1324chr1

109704516

+
intron-intronENST00000468588ENST00000369938SARSchr1

109766670

+KIAA1324chr1

109704516

+
Frame-shiftENST00000234677ENST00000369939SARSchr1

109756750

+KIAA1324chr1

109704516

+
Frame-shiftENST00000234677ENST00000529753SARSchr1

109756750

+KIAA1324chr1

109704516

+
5CDS-intronENST00000234677ENST00000369938SARSchr1

109756750

+KIAA1324chr1

109704516

+
Frame-shiftENST00000369923ENST00000369939SARSchr1

109756750

+KIAA1324chr1

109704516

+
Frame-shiftENST00000369923ENST00000529753SARSchr1

109756750

+KIAA1324chr1

109704516

+
5CDS-intronENST00000369923ENST00000369938SARSchr1

109756750

+KIAA1324chr1

109704516

+
intron-3CDSENST00000468588ENST00000369939SARSchr1

109756750

+KIAA1324chr1

109704516

+
intron-3CDSENST00000468588ENST00000529753SARSchr1

109756750

+KIAA1324chr1

109704516

+
intron-intronENST00000468588ENST00000369938SARSchr1

109756750

+KIAA1324chr1

109704516

+
Frame-shiftENST00000234677ENST00000369939SARSchr1

109756749

+KIAA1324chr1

109704515

+
Frame-shiftENST00000234677ENST00000529753SARSchr1

109756749

+KIAA1324chr1

109704515

+
5CDS-intronENST00000234677ENST00000369938SARSchr1

109756749

+KIAA1324chr1

109704515

+
Frame-shiftENST00000369923ENST00000369939SARSchr1

109756749

+KIAA1324chr1

109704515

+
Frame-shiftENST00000369923ENST00000529753SARSchr1

109756749

+KIAA1324chr1

109704515

+
5CDS-intronENST00000369923ENST00000369938SARSchr1

109756749

+KIAA1324chr1

109704515

+
intron-3CDSENST00000468588ENST00000369939SARSchr1

109756749

+KIAA1324chr1

109704515

+
intron-3CDSENST00000468588ENST00000529753SARSchr1

109756749

+KIAA1324chr1

109704515

+
intron-intronENST00000468588ENST00000369938SARSchr1

109756749

+KIAA1324chr1

109704515

+
In-frameENST00000234677ENST00000369939SARSchr1

109766669

+KIAA1324chr1

109704515

+
In-frameENST00000234677ENST00000529753SARSchr1

109766669

+KIAA1324chr1

109704515

+
5CDS-intronENST00000234677ENST00000369938SARSchr1

109766669

+KIAA1324chr1

109704515

+
In-frameENST00000369923ENST00000369939SARSchr1

109766669

+KIAA1324chr1

109704515

+
In-frameENST00000369923ENST00000529753SARSchr1

109766669

+KIAA1324chr1

109704515

+
5CDS-intronENST00000369923ENST00000369938SARSchr1

109766669

+KIAA1324chr1

109704515

+
intron-3CDSENST00000468588ENST00000369939SARSchr1

109766669

+KIAA1324chr1

109704515

+
intron-3CDSENST00000468588ENST00000529753SARSchr1

109766669

+KIAA1324chr1

109704515

+
intron-intronENST00000468588ENST00000369938SARSchr1

109766669

+KIAA1324chr1

109704515

+

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 SARS-KIAA1324


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)
SARSchr1109766670+KIAA1324chr1109704515+2.08E-091
SARSchr1109756750+KIAA1324chr1109704515+4.36E-121
SARSchr1109766670+KIAA1324chr1109704515+2.08E-091
SARSchr1109766670+KIAA1324chr1109704515+2.08E-091
SARSchr1109756750+KIAA1324chr1109704515+4.36E-121
SARSchr1109766670+KIAA1324chr1109704515+2.08E-091

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 SARS-KIAA1324


check button Go to

FGviewer for the breakpoints of chr1:109766670-chr1:109704516

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
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: 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.

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
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000369939022656_85851.01014.0DomainMRH
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000529753020656_85851.0927.0DomainMRH
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000369939022656_85851.01014.0DomainMRH
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000529753020656_85851.0927.0DomainMRH
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000369939022932_101351.01014.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000529753020932_101351.0927.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000369939022932_101351.01014.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000529753020932_101351.0927.0Topological domainCytoplasmic
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000369939022911_93151.01014.0TransmembraneHelical
TgeneKIAA1324chr1:109766669chr1:109704515ENST00000529753020911_93151.0927.0TransmembraneHelical
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000369939022911_93151.01014.0TransmembraneHelical
TgeneKIAA1324chr1:109766670chr1:109704516ENST00000529753020911_93151.0927.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSARSchr1:109766669chr1:109704515ENST00000234677+211482_49469.0515.0MotifNuclear localization signal
HgeneSARSchr1:109766670chr1:109704516ENST00000234677+211482_49469.0515.0MotifNuclear localization signal
HgeneSARSchr1:109766669chr1:109704515ENST00000234677+211302_30469.0515.0Nucleotide bindingATP
HgeneSARSchr1:109766669chr1:109704515ENST00000234677+211318_32169.0515.0Nucleotide bindingATP
HgeneSARSchr1:109766669chr1:109704515ENST00000234677+211391_39469.0515.0Nucleotide bindingATP
HgeneSARSchr1:109766670chr1:109704516ENST00000234677+211302_30469.0515.0Nucleotide bindingATP
HgeneSARSchr1:109766670chr1:109704516ENST00000234677+211318_32169.0515.0Nucleotide bindingATP
HgeneSARSchr1:109766670chr1:109704516ENST00000234677+211391_39469.0515.0Nucleotide bindingATP
TgeneKIAA1324chr1:109766669chr1:109704515ENST0000036993902242_91051.01014.0Topological domainExtracellular
TgeneKIAA1324chr1:109766669chr1:109704515ENST0000052975302042_91051.0927.0Topological domainExtracellular
TgeneKIAA1324chr1:109766670chr1:109704516ENST0000036993902242_91051.01014.0Topological domainExtracellular
TgeneKIAA1324chr1:109766670chr1:109704516ENST0000052975302042_91051.0927.0Topological domainExtracellular


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Fusion Gene Sequence for SARS-KIAA1324


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 SARS-KIAA1324


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
HgeneSARSchr1:109766669chr1:109704515ENST00000234677+2119_6169.0515.0tRNA
HgeneSARSchr1:109766670chr1:109704516ENST00000234677+2119_6169.0515.0tRNA


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 SARS-KIAA1324


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 SARS-KIAA1324


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