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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:NOS1AP-COLGALT2 (FusionGDB2 ID:59668)

Fusion Gene Summary for NOS1AP-COLGALT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NOS1AP-COLGALT2
Fusion gene ID: 59668
HgeneTgene
Gene symbol

NOS1AP

COLGALT2

Gene ID

9722

23127

Gene namenitric oxide synthase 1 adaptor proteincollagen beta(1-O)galactosyltransferase 2
Synonyms6330408P19Rik|CAPONC1orf17|ColGalT 2|GLT25D2
Cytomap

1q23.3

1q25.3

Type of geneprotein-codingprotein-coding
Descriptioncarboxyl-terminal PDZ ligand of neuronal nitric oxide synthase proteinC-terminal PDZ domain ligand of neuronal nitric oxide synthase (CAPON)C-terminal PDZ ligand of neuronal nitric oxide synthase proteinligand of neuronal nitric oxide synthase with carprocollagen galactosyltransferase 2glycosyltransferase 25 domain containing 2glycosyltransferase 25 family member 2hydroxylysine galactosyltransferase 2
Modification date2020031320200313
UniProtAcc

O75052

Q8IYK4

Ensembl transtripts involved in fusion geneENST00000361897, ENST00000530878, 
ENST00000454693, ENST00000493151, 
ENST00000361927, ENST00000367520, 
ENST00000367521, ENST00000486375, 
ENST00000546159, 
Fusion gene scores* DoF score15 X 9 X 8=10806 X 3 X 5=90
# samples 186
** MAII scorelog2(18/1080*10)=-2.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOS1AP [Title/Abstract] AND COLGALT2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointNOS1AP(162124266)-COLGALT2(183913457), # 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
HgeneNOS1AP

GO:0098974

postsynaptic actin cytoskeleton organization

26869880


check buttonFusion gene breakpoints across NOS1AP (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across COLGALT2 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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-A0J3-01ANOS1APchr1

162124266

+COLGALT2chr1

183913457

-


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Fusion Gene ORF analysis for NOS1AP-COLGALT2

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-intronENST00000361897ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
In-frameENST00000361897ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
In-frameENST00000530878ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-3CDSENST00000454693ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-3CDSENST00000493151ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-

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)
ENST00000530878NOS1APchr1162124266+ENST00000546159COLGALT2chr1183913457-1544581221976251
ENST00000361897NOS1APchr1162124266+ENST00000546159COLGALT2chr1183913457-1542579219974251

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
ENST00000530878ENST00000546159NOS1APchr1162124266+COLGALT2chr1183913457-0.0023229130.99767715
ENST00000361897ENST00000546159NOS1APchr1162124266+COLGALT2chr1183913457-0.0021060740.997894

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Fusion Genomic Features for NOS1AP-COLGALT2


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.
genomic feature

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 NOS1AP-COLGALT2


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/chr1:162124266/chr1:183913457)
- 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
NOS1AP

O75052

COLGALT2

Q8IYK4

FUNCTION: Adapter protein involved in neuronal nitric-oxide (NO) synthesis regulation via its association with nNOS/NOS1. The complex formed with NOS1 and synapsins is necessary for specific NO and synapsin functions at a presynaptic level. Mediates an indirect interaction between NOS1 and RASD1 leading to enhance the ability of NOS1 to activate RASD1. Competes with DLG4 for interaction with NOS1, possibly affecting NOS1 activity by regulating the interaction between NOS1 and DLG4 (By similarity). {ECO:0000250}.FUNCTION: Beta-galactosyltransferase that transfers beta-galactose to hydroxylysine residues of collagen. {ECO:0000269|PubMed:19075007}.

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
TgeneCOLGALT2chr1:162124266chr1:183913457ENST00000361927812623_626423627.0MotifPrevents secretion from ER

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210322_36359507.0Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12322_3630212.0Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210322_36359502.0Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210301_30859507.0Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12301_3080212.0Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210301_30859502.0Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+21026_19659507.0DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+1226_1960212.0DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+21026_19659502.0DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210504_50659507.0MotifPDZ-binding
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12504_5060212.0MotifPDZ-binding
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210504_50659502.0MotifPDZ-binding


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Fusion Gene Sequence for NOS1AP-COLGALT2


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.
>59668_59668_1_NOS1AP-COLGALT2_NOS1AP_chr1_162124266_ENST00000361897_COLGALT2_chr1_183913457_ENST00000546159_length(transcript)=1542nt_BP=579nt
CGTCGCCTTTTCTTCTTCGTCCCGGGCGGTGCGTTCCACTGCTCTGGGGCCGGCGCCGCGCCCAGTCCCGCTTCGGGCCGCAAGCCCCAC
CGCTCCCCTCCCCGGGCAGGGGCGCCGCGCAGCCCGCTCCCGCCGCCACCTCCTCCCCTGCCGCCCTCCTAGCCGGCAGGAATTGCGCGA
CCACAGCGCCGCTCGCGTCGCCCGCATCAGCTCAGCCCGCTGCCGCTCGGCCCTCGGCACCGCTCCGGGTCCGGCCGCCGCGCGGCCAGG
GCTCCCCCTGCCCAGCGCTCCCAGGCCCCGCCACGCGTCGCCGCGCCCAGCTCCAGTCTCCCCTCCCCGGGGTCTCGCCAGCCCCTTCCT
GCAGCCGCCGCCTCCGAAGGAGCGGGTCCGCCGCGGGTAACCATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACCTG
CGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATCTGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAAC
AGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTAATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGT
TTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGG
AAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTAC
GTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTAC
AACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAAACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCACC
CTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCAACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTACT
CACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAGGTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAGTT
CTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGATGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGCTG
CTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGTCCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGAAA
TTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCCCTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGGAA
AAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAGGCATCTGAAGAAAAAGAGGTTTGAGTCAGGAACCTCCTCAGT

>59668_59668_1_NOS1AP-COLGALT2_NOS1AP_chr1_162124266_ENST00000361897_COLGALT2_chr1_183913457_ENST00000546159_length(amino acids)=251AA_BP=120
MPLGPRHRSGSGRRAARAPPAQRSQAPPRVAAPSSSLPSPGSRQPLPAAAASEGAGPPRVTMPSKTKYNLVDDGHDLRIPLHNEDAFQHG
ICFEAKYVGSLDVPRPNSRVEIVAAMRRIRVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQVKEPEKAVP

--------------------------------------------------------------
>59668_59668_2_NOS1AP-COLGALT2_NOS1AP_chr1_162124266_ENST00000530878_COLGALT2_chr1_183913457_ENST00000546159_length(transcript)=1544nt_BP=581nt
ACCGTCGCCTTTTCTTCTTCGTCCCGGGCGGTGCGTTCCACTGCTCTGGGGCCGGCGCCGCGCCCAGTCCCGCTTCGGGCCGCAAGCCCC
ACCGCTCCCCTCCCCGGGCAGGGGCGCCGCGCAGCCCGCTCCCGCCGCCACCTCCTCCCCTGCCGCCCTCCTAGCCGGCAGGAATTGCGC
GACCACAGCGCCGCTCGCGTCGCCCGCATCAGCTCAGCCCGCTGCCGCTCGGCCCTCGGCACCGCTCCGGGTCCGGCCGCCGCGCGGCCA
GGGCTCCCCCTGCCCAGCGCTCCCAGGCCCCGCCACGCGTCGCCGCGCCCAGCTCCAGTCTCCCCTCCCCGGGGTCTCGCCAGCCCCTTC
CTGCAGCCGCCGCCTCCGAAGGAGCGGGTCCGCCGCGGGTAACCATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACC
TGCGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATCTGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCA
ACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTAATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGC
GTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTA
GGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCT
ACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGT
ACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAAACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCA
CCCTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCAACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTA
CTCACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAGGTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAG
TTCTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGATGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGC
TGCTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGTCCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGA
AATTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCCCTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGG
AAAAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAGGCATCTGAAGAAAAAGAGGTTTGAGTCAGGAACCTCCTCA

>59668_59668_2_NOS1AP-COLGALT2_NOS1AP_chr1_162124266_ENST00000530878_COLGALT2_chr1_183913457_ENST00000546159_length(amino acids)=251AA_BP=120
MPLGPRHRSGSGRRAARAPPAQRSQAPPRVAAPSSSLPSPGSRQPLPAAAASEGAGPPRVTMPSKTKYNLVDDGHDLRIPLHNEDAFQHG
ICFEAKYVGSLDVPRPNSRVEIVAAMRRIRVIDRELEKTLVIEDDVRFEHQFKKKLMKLMDNIDQAQLDWELIYIGRKRMQVKEPEKAVP

--------------------------------------------------------------

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Fusion Gene PPI Analysis for NOS1AP-COLGALT2


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
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210494_50659.0507.0NOS1
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12494_5060212.0NOS1
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210494_50659.0502.0NOS1


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 NOS1AP-COLGALT2


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 NOS1AP-COLGALT2


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