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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:COL18A1-ADARB1 (FusionGDB2 ID:HG80781TG104)

Fusion Gene Summary for COL18A1-ADARB1

check button Fusion gene summary
Fusion gene informationFusion gene name: COL18A1-ADARB1
Fusion gene ID: hg80781tg104
HgeneTgene
Gene symbol

COL18A1

ADARB1

Gene ID

80781

104

Gene namecollagen type XVIII alpha 1 chainadenosine deaminase RNA specific B1
SynonymsKNO|KNO1|KSADAR2|DRABA2|DRADA2|RED1
Cytomap('COL18A1')('ADARB1')

21q22.3

21q22.3

Type of geneprotein-codingprotein-coding
Descriptioncollagen alpha-1(XVIII) chainantiangiogenic agentcollagen alpha-1(XVIII) chain isoform 1 preproproteincollagen, type XVIII, alpha 1endostatinmulti-functional protein MFPdouble-stranded RNA-specific editase 1RNA editing deaminase 1RNA-editing enzyme 1adenosine deaminase, RNA-specific, B1 (homolog of rat RED1)dsRNA adenosine deaminase DRADA2
Modification date2020031320200315
UniProtAcc

P39060

.
Ensembl transtripts involved in fusion geneENST00000355480, ENST00000359759, 
ENST00000400337, ENST00000459895, 
Fusion gene scores* DoF score10 X 9 X 9=8108 X 10 X 5=400
# samples 1111
** MAII scorelog2(11/810*10)=-2.88041838424733
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(11/400*10)=-1.86249647625006
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: COL18A1 [Title/Abstract] AND ADARB1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointCOL18A1(46825388)-ADARB1(46591525), # samples:2
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
TgeneADARB1

GO:0006382

adenosine to inosine editing

18178553|21289159

TgeneADARB1

GO:0008285

negative regulation of cell proliferation

18178553

TgeneADARB1

GO:0030336

negative regulation of cell migration

18178553

TgeneADARB1

GO:0044387

negative regulation of protein kinase activity by regulation of protein phosphorylation

21289159

TgeneADARB1

GO:0051726

regulation of cell cycle

18178553



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
ChimerDB4KIRCTCGA-CJ-4635-01ACOL18A1chr21

46825388

-ADARB1chr21

46591525

+
ChimerDB4KIRCTCGA-CJ-4635-01ACOL18A1chr21

46825388

+ADARB1chr21

46591525

+
ChimerDB4OVTCGA-25-2396-01ACOL18A1chr21

46931140

+ADARB1chr21

46624470

+


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Fusion Gene ORF analysis for COL18A1-ADARB1

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-3UTRENST00000355480ENST00000348831COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000355480ENST00000360697COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000355480ENST00000389863COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000355480ENST00000437626COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000359759ENST00000348831COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000359759ENST00000360697COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000359759ENST00000389863COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000359759ENST00000437626COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000400337ENST00000348831COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000400337ENST00000360697COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000400337ENST00000389863COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-3UTRENST00000400337ENST00000437626COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-5UTRENST00000400337ENST00000348831COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-5UTRENST00000400337ENST00000389863COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-5UTRENST00000400337ENST00000437626COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-5UTRENST00000400337ENST00000539173COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-intronENST00000355480ENST00000460734COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-intronENST00000355480ENST00000539173COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-intronENST00000359759ENST00000460734COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-intronENST00000359759ENST00000539173COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-intronENST00000400337ENST00000360697COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-intronENST00000400337ENST00000460734COL18A1chr21

46825388

+ADARB1chr21

46591525

+
5CDS-intronENST00000400337ENST00000460734COL18A1chr21

46931140

+ADARB1chr21

46624470

+
5CDS-intronENST00000400337ENST00000539173COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-3UTRENST00000459895ENST00000348831COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-3UTRENST00000459895ENST00000360697COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-3UTRENST00000459895ENST00000389863COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-3UTRENST00000459895ENST00000437626COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-5UTRENST00000355480ENST00000348831COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000355480ENST00000389863COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000355480ENST00000437626COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000355480ENST00000539173COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000359759ENST00000348831COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000359759ENST00000389863COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000359759ENST00000437626COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000359759ENST00000539173COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000459895ENST00000348831COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000459895ENST00000389863COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000459895ENST00000437626COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-5UTRENST00000459895ENST00000539173COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000355480ENST00000360697COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000355480ENST00000460734COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000359759ENST00000360697COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000359759ENST00000460734COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000459895ENST00000360697COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000459895ENST00000460734COL18A1chr21

46825388

+ADARB1chr21

46591525

+
intron-intronENST00000459895ENST00000460734COL18A1chr21

46931140

+ADARB1chr21

46624470

+
intron-intronENST00000459895ENST00000539173COL18A1chr21

46931140

+ADARB1chr21

46624470

+

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 COL18A1-ADARB1


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)
COL18A1chr2146931140+ADARB1chr2146624469+0.152996960.84700304
COL18A1chr2146825388+ADARB1chr2146591524+0.0245911960.97540873
COL18A1chr2146931140+ADARB1chr2146624469+0.152996960.84700304
COL18A1chr2146825388+ADARB1chr2146591524+0.0245911960.97540873


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 COL18A1-ADARB1


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/:46825388/:46591525)
- 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
COL18A1

P39060

.
FUNCTION: Probably plays a major role in determining the retinal structure as well as in the closure of the neural tube. {ECO:0000269|PubMed:10942434}.; FUNCTION: [Non-collagenous domain 1]: May regulate extracellular matrix-dependent motility and morphogenesis of endothelial and non-endothelial cells; the function requires homotrimerization and implicates MAPK signaling. {ECO:0000269|PubMed:11257123}.; FUNCTION: [Endostatin]: Potently inhibits endothelial cell proliferation and angiogenesis (PubMed:9459295). May inhibit angiogenesis by binding to the heparan sulfate proteoglycans involved in growth factor signaling (By similarity). Inhibits VEGFA-induced endothelial cell proliferation and migration. Seems to inhibit VEGFA-mediated signaling by blocking the interaction of VEGFA to its receptor KDR/VEGFR2. Modulates endothelial cell migration in an integrin-dependent manner implicating integrin ITGA5:ITGB1 and to a lesser extent ITGAV:ITGB3 and ITGAV:ITGB5 (By similarity). May negatively regulate the activity of homotrimeric non-collagenous domain 1 (PubMed:11257123). {ECO:0000250|UniProtKB:P39061, ECO:0000269|PubMed:11257123, ECO:0000269|PubMed:9459295}.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

- 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 COL18A1-ADARB1


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 COL18A1-ADARB1


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 COL18A1-ADARB1


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 COL18A1-ADARB1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneCOL18A1C4551775Knobloch Syndrome, Type I3CTD_human;GENOMICS_ENGLAND
HgeneCOL18A1C1849409Knobloch syndrome2CTD_human;GENOMICS_ENGLAND;ORPHANET
HgeneCOL18A1C0006663Calcinosis1CTD_human
HgeneCOL18A1C0018824Heart valve disease1CTD_human
HgeneCOL18A1C0018923Hemangiosarcoma1CTD_human
HgeneCOL18A1C0020796Profound Mental Retardation1CTD_human
HgeneCOL18A1C0025363Mental Retardation, Psychosocial1CTD_human
HgeneCOL18A1C0263628Tumoral calcinosis1CTD_human
HgeneCOL18A1C0521174Microcalcification1CTD_human
HgeneCOL18A1C0917816Mental deficiency1CTD_human
HgeneCOL18A1C3714756Intellectual Disability1CTD_human
TgeneC0005586Bipolar Disorder3PSYGENET
TgeneC0036341Schizophrenia2PSYGENET
TgeneC0032460Polycystic Ovary Syndrome1CTD_human
TgeneC0033975Psychotic Disorders1PSYGENET
TgeneC1136382Sclerocystic Ovaries1CTD_human