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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:KIAA1671-MYO18B (FusionGDB2 ID:42230)

Fusion Gene Summary for KIAA1671-MYO18B

check button Fusion gene summary
Fusion gene informationFusion gene name: KIAA1671-MYO18B
Fusion gene ID: 42230
HgeneTgene
Gene symbol

KIAA1671

MYO18B

Gene ID

85379

84700

Gene nameKIAA1671myosin XVIIIB
Synonyms-KFS4
Cytomap

22q11.23

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionuncharacterized protein KIAA1671CTA-221G9.5unconventional myosin-XVIIIbmyosin 18B
Modification date2020031320200313
UniProtAcc.

Q8IUG5

Ensembl transtripts involved in fusion geneENST00000406486, ENST00000358431, 
ENST00000401395, 
ENST00000536101, 
ENST00000335473, ENST00000407587, 
ENST00000536204, 
Fusion gene scores* DoF score20 X 13 X 10=260011 X 11 X 9=1089
# samples 1911
** MAII scorelog2(19/2600*10)=-3.77444029958487
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/1089*10)=-3.30742852519225
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIAA1671 [Title/Abstract] AND MYO18B [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIAA1671(25508429)-MYO18B(26317224), # 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)

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 KIAA1671 (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 MYO18B (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
ChimerDB4PRADTCGA-M7-A725-01AKIAA1671chr22

25508429

+MYO18Bchr22

26317224

+


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Fusion Gene ORF analysis for KIAA1671-MYO18B

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
intron-3CDSENST00000406486ENST00000536101KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000406486ENST00000335473KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000406486ENST00000407587KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-intronENST00000406486ENST00000536204KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000358431ENST00000536101KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000358431ENST00000335473KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000358431ENST00000407587KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-intronENST00000358431ENST00000536204KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000401395ENST00000536101KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000401395ENST00000335473KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-3CDSENST00000401395ENST00000407587KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+
intron-intronENST00000401395ENST00000536204KIAA1671chr22

25508429

+MYO18Bchr22

26317224

+

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 KIAA1671-MYO18B


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)

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 KIAA1671-MYO18B


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.MYO18B

Q8IUG5

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: May be involved in intracellular trafficking of the muscle cell when in the cytoplasm, whereas entering the nucleus, may be involved in the regulation of muscle specific genes. May play a role in the control of tumor development and progression; restored MYO18B expression in lung cancer cells suppresses anchorage-independent growth.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for KIAA1671-MYO18B


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 KIAA1671-MYO18B


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 KIAA1671-MYO18B


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 KIAA1671-MYO18B


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneMYO18BC4225285KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM5CLINGEN;CTD_human;GENOMICS_ENGLAND;ORPHANET
TgeneMYO18BC0004238Atrial Fibrillation2CTD_human
TgeneMYO18BC0235480Paroxysmal atrial fibrillation2CTD_human
TgeneMYO18BC2585653Persistent atrial fibrillation2CTD_human
TgeneMYO18BC3468561familial atrial fibrillation2CTD_human
TgeneMYO18BC0025500Mesothelioma1CTD_human