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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:KIRREL-TMCO1 (FusionGDB2 ID:42596)

Fusion Gene Summary for KIRREL-TMCO1

check button Fusion gene summary
Fusion gene informationFusion gene name: KIRREL-TMCO1
Fusion gene ID: 42596
HgeneTgene
Gene symbol

KIRREL

TMCO1

Gene ID

55243

54499

Gene namekirre like nephrin family adhesion molecule 1transmembrane and coiled-coil domains 1
SynonymsKIRREL|NEPH1HP10122|PCIA3|PNAS-136|TMCC4
Cytomap

1q23.1

1q24.1

Type of geneprotein-codingprotein-coding
Descriptionkin of IRRE-like protein 1kin of IRRE likekin of irregular chiasm-like protein 1nephrin relatednephrin-like protein 1calcium load-activated calcium channelCLAC channelCa(2+) load-activated Ca(2+) channelputative membrane proteintransmembrane and coiled-coil domain-containing protein 1transmembrane and coiled-coil domains 4xenogeneic cross-immune protein PCIA3
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000392272, ENST00000368173, 
ENST00000360089, ENST00000359209, 
ENST00000416935, ENST00000368172, 
ENST00000392129, ENST00000367881, 
ENST00000580248, ENST00000464650, 
Fusion gene scores* DoF score11 X 5 X 6=33013 X 9 X 6=702
# samples 1314
** MAII scorelog2(13/330*10)=-1.34395440121736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(14/702*10)=-2.32604420335959
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: KIRREL [Title/Abstract] AND TMCO1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointKIRREL(158067873)-TMCO1(165737506), # 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
TgeneTMCO1

GO:0006983

ER overload response

27212239

TgeneTMCO1

GO:0032469

endoplasmic reticulum calcium ion homeostasis

27212239

TgeneTMCO1

GO:0070588

calcium ion transmembrane transport

27212239


check buttonFusion gene breakpoints across KIRREL (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 TMCO1 (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-AO-A0J3-01AKIRRELchr1

158067873

+TMCO1chr1

165737506

-


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Fusion Gene ORF analysis for KIRREL-TMCO1

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-3CDSENST00000392272ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000392272ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000392272ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000392272ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000368173ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000368173ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000368173ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000368173ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000360089ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000360089ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000360089ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000360089ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000359209ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000359209ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000359209ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000359209ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000416935ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-3CDSENST00000416935ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000416935ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
intron-5UTRENST00000416935ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-
3UTR-3CDSENST00000368172ENST00000392129KIRRELchr1

158067873

+TMCO1chr1

165737506

-
3UTR-3CDSENST00000368172ENST00000367881KIRRELchr1

158067873

+TMCO1chr1

165737506

-
3UTR-5UTRENST00000368172ENST00000580248KIRRELchr1

158067873

+TMCO1chr1

165737506

-
3UTR-5UTRENST00000368172ENST00000464650KIRRELchr1

158067873

+TMCO1chr1

165737506

-

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 KIRREL-TMCO1


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 KIRREL-TMCO1


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
..
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

- 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 KIRREL-TMCO1


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 KIRREL-TMCO1


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 KIRREL-TMCO1


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 KIRREL-TMCO1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTMCO1C1859252Cerebrofaciothoracic Dysplasia3GENOMICS_ENGLAND;ORPHANET
TgeneTMCO1C0005941Bone Diseases, Developmental1CTD_human
TgeneTMCO1C0017612Glaucoma, Open-Angle1CTD_human
TgeneTMCO1C0020796Profound Mental Retardation1CTD_human
TgeneTMCO1C0025363Mental Retardation, Psychosocial1CTD_human
TgeneTMCO1C0040427Tooth Abnormalities1CTD_human
TgeneTMCO1C0151491Congenital musculoskeletal anomalies1CTD_human
TgeneTMCO1C0271148Secondary Open Angle Glaucoma1CTD_human
TgeneTMCO1C0339573Glaucoma, Primary Open Angle1CTD_human
TgeneTMCO1C0376634Craniofacial Abnormalities1CTD_human
TgeneTMCO1C0524730Odontome1CTD_human
TgeneTMCO1C0917816Mental deficiency1CTD_human
TgeneTMCO1C3714756Intellectual Disability1CTD_human
TgeneTMCO1C4021790Abnormality of the skeletal system1GENOMICS_ENGLAND