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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 24603

FusionGeneSummary for NOS1AP_COLGALT2

check button Fusion gene summary
Fusion gene informationFusion gene name: NOS1AP_COLGALT2
Fusion gene ID: 24603
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 date2018051920180523
UniProtAcc

O75052

Q8IYK4

Ensembl transtripts involved in fusion geneENST00000530878, ENST00000361897, 
ENST00000493151, ENST00000454693, 
ENST00000546159, ENST00000486375, 
ENST00000367521, ENST00000361927, 
ENST00000367520, 
Fusion gene scores* DoF score12 X 8 X 7=6725 X 3 X 4=60
# samples 145
** MAII scorelog2(14/672*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/60*10)=-0.263034405833794
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGALDBRCATCGA-AO-A0J3-01ANOS1APchr1

162124266

+COLGALT2chr1

183913457

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-frameENST00000530878ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000530878ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
In-frameENST00000361897ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
5CDS-intronENST00000361897ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-3CDSENST00000493151ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000493151ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-3CDSENST00000454693ENST00000546159NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000486375NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000367521NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000361927NOS1APchr1

162124266

+COLGALT2chr1

183913457

-
intron-intronENST00000454693ENST00000367520NOS1APchr1

162124266

+COLGALT2chr1

183913457

-

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FusionProtFeatures for NOS1AP_COLGALT2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NOS1AP

O75052

COLGALT2

Q8IYK4

Adapter protein involved in neuronal nitric-oxide (NO)synthesis regulation via its association with nNOS/NOS1. Thecomplex formed with NOS1 and synapsins is necessary for specificNO and synapsin functions at a presynaptic level. Mediates anindirect interaction between NOS1 and RASD1 leading to enhance theability of NOS1 to activate RASD1. Competes with DLG4 forinteraction with NOS1, possibly affecting NOS1 activity byregulating the interaction between NOS1 and DLG4 (By similarity).{ECO:0000250}. Beta-galactosyltransferase that transfers beta-galactoseto 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
TgeneCOLGALT2chr1:162124266chr1:183913457ENST00000361927-812623_626423627MotifPrevents 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_36359507Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12322_363-789212Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210322_36359502Coiled coilOntology_term=ECO:0000255
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210301_30859507Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12301_308-789212Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210301_30859502Compositional biasNote=Poly-Gln
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+21026_19659507DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+1226_196-789212DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+21026_19659502DomainPID
HgeneNOS1APchr1:162124266chr1:183913457ENST00000361897+210504_50659507MotifPDZ-binding
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12504_506-789212MotifPDZ-binding
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210504_50659502MotifPDZ-binding


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FusionGeneSequence for NOS1AP_COLGALT2


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.
>In-frame_NOS1AP_ENST00000530878_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_191aa
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRVIDRELEKTLVIEDDVRFEHQFKKKLMKLMD
NIDQAQLDWELIYIGRKRMQVKEPEKAVPNVANLVEADYSYWTLGYVISLEGAQKLVGANPFGKMLPVDEFLPVMYNKHPVLLSSPHCHL

>In-frame_NOS1AP_ENST00000361897_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_191aa
MPSKTKYNLVDDGHDLRIPLHNEDAFQHGICFEAKYVGSLDVPRPNSRVEIVAAMRRIRVIDRELEKTLVIEDDVRFEHQFKKKLMKLMD
NIDQAQLDWELIYIGRKRMQVKEPEKAVPNVANLVEADYSYWTLGYVISLEGAQKLVGANPFGKMLPVDEFLPVMYNKHPVLLSSPHCHL


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_NOS1AP_ENST00000530878_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_573nt
ATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACCTGCGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATC
TGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTA
ATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGAT
AACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAAT
GTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAAT
CCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTC

>In-frame_NOS1AP_ENST00000361897_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_573nt
ATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACCTGCGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATC
TGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTA
ATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGAT
AACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAAT
GTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAAT
CCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTC


* Fusion transcript sequences (Full-length transcript).
>In-frame_NOS1AP_ENST00000530878_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_1544nt
ACCGTCGCCTTTTCTTCTTCGTCCCGGGCGGTGCGTTCCACTGCTCTGGGGCCGGCGCCGCGCCCAGTCCCGCTTCGGGCCGCAAGCCCC
ACCGCTCCCCTCCCCGGGCAGGGGCGCCGCGCAGCCCGCTCCCGCCGCCACCTCCTCCCCTGCCGCCCTCCTAGCCGGCAGGAATTGCGC
GACCACAGCGCCGCTCGCGTCGCCCGCATCAGCTCAGCCCGCTGCCGCTCGGCCCTCGGCACCGCTCCGGGTCCGGCCGCCGCGCGGCCA
GGGCTCCCCCTGCCCAGCGCTCCCAGGCCCCGCCACGCGTCGCCGCGCCCAGCTCCAGTCTCCCCTCCCCGGGGTCTCGCCAGCCCCTTC
CTGCAGCCGCCGCCTCCGAAGGAGCGGGTCCGCCGCGGGTAACCATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACC
TGCGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATCTGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCA
ACAGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTAATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGC
GTTTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTA
GGAAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCT
ACGTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGT
ACAACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAAACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCA
CCCTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCAACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTA
CTCACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAGGTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAG
TTCTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGATGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGC
TGCTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGTCCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGA
AATTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCCCTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGG
AAAAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAGGCATCTGAAGAAAAAGAGGTTTGAGTCAGGAACCTCCTCA

>In-frame_NOS1AP_ENST00000361897_chr1_162124266_+_COLGALT2_ENST00000546159_chr1_183913457_-_1542nt
CGTCGCCTTTTCTTCTTCGTCCCGGGCGGTGCGTTCCACTGCTCTGGGGCCGGCGCCGCGCCCAGTCCCGCTTCGGGCCGCAAGCCCCAC
CGCTCCCCTCCCCGGGCAGGGGCGCCGCGCAGCCCGCTCCCGCCGCCACCTCCTCCCCTGCCGCCCTCCTAGCCGGCAGGAATTGCGCGA
CCACAGCGCCGCTCGCGTCGCCCGCATCAGCTCAGCCCGCTGCCGCTCGGCCCTCGGCACCGCTCCGGGTCCGGCCGCCGCGCGGCCAGG
GCTCCCCCTGCCCAGCGCTCCCAGGCCCCGCCACGCGTCGCCGCGCCCAGCTCCAGTCTCCCCTCCCCGGGGTCTCGCCAGCCCCTTCCT
GCAGCCGCCGCCTCCGAAGGAGCGGGTCCGCCGCGGGTAACCATGCCTAGCAAAACCAAGTACAACCTTGTGGACGATGGGCACGACCTG
CGGATCCCCTTGCACAACGAGGACGCCTTCCAGCACGGCATCTGCTTTGAGGCCAAGTACGTAGGAAGCCTGGACGTGCCAAGGCCCAAC
AGCAGGGTGGAGATCGTGGCTGCCATGCGCCGGATACGGGTAATTGATCGAGAGCTAGAGAAGACTCTTGTAATTGAAGACGATGTGCGT
TTTGAGCATCAGTTTAAGAAGAAGCTGATGAAGCTGATGGATAACATTGACCAGGCTCAGCTGGACTGGGAACTGATTTATATTGGTAGG
AAGAGGATGCAAGTAAAGGAGCCAGAGAAAGCAGTGCCCAATGTGGCAAACCTGGTCGAAGCCGACTATTCCTACTGGACCCTGGGCTAC
GTCATCTCTCTGGAAGGAGCACAGAAGCTGGTTGGAGCCAATCCTTTTGGGAAGATGCTGCCAGTGGATGAGTTTCTGCCAGTCATGTAC
AACAAGCATCCCGTCCTCCTCTCAAGTCCTCACTGCCATCTCTTCCAAACACTTTCTGATGACTGCCAACGGTGAACAAACCCGTGCACC
CTAGGAGAAGGCATTACCCCTCTGTGGCAGAGGTGGTCGTGTTCATCAACTCCTCCAGGTTTCTCCTGCATTTCCCACCTCCCCTGTACT
CACATCGGGCCCGGGGACTGGTTGATGGGCTGTGAACAGAAGTGACAGGTGTCGCTTTGGTCTAAGGCAGTTGGGAACAGTTTGTGAGTT
CTCTTTACTCTCTTTATCATCACTGTGACTGGAAGGGAAACACCGAGATGGCGAAGTTGCAAGATGGAAGCTGCCTGGATCTGTGAGCTG
CTGTTAGAGAAAAGCTACTAAGGAGTTTCCTGGCTTGCATTACACTGTCCCGTGAAAGAAAAAATAAACCTCGGTCTTAAGCTGTTGAAA
TTTCTTGGTTTGTTACTTCGGTCCAGCCTAGCCTAGCCTAACACATCCCTTCCAAAGGTATTTAATTTTAAGAGAGATGTCTAGGGGGAA
AAGCAATGCAAAATGCAATGGAAATAACTTTGCCTAGTGGAAATGTAGGCATCTGAAGAAAAAGAGGTTTGAGTCAGGAACCTCCTCAGT


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FusionGenePPI 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
NOS1APLRP2, LRP1, LRP8, RASD1, SYN1, SYN2, SYN3, NOS1, APP, TRAF4, FAM133A, EAF1, AP2M1, AKNAD1, NHP2, NKAP, CT45A5, RYBP, CKM, FYN, HSPD1, PLAGL2, PNP, BTRC, XPO1, PCNA, RAB5C, RALA, SNCA, YWHAH, PRPF4, TOMM40, RNPS1, NAF1, KLC3, PTPRH, PTPRJ, C11orf57, ZCCHC17, DDX41, MDK, PLK1, SREK1IP1, GPR156, C1orf186, AKAP17A, PNN, PIP4K2A, OIP5, CAMKV, TRPC4APCOLGALT2FBXO6, UBQLN1, C1QB, C1QTNF2, COLEC11, CNPY3, C1QTNF3, COLEC10, UBXN11, FCN1, C1QTNF9, SEMG1, EMID1, PSG9, COL8A2, TMEM255A, VPS33B, VIPAS39, COL4A1, COL2A1, SPATA20, COL4A2, COL1A1, COLQ, VWA1, DOK1, CNKSR3, TCF3, PCBP3, COL6A2, COL4A5, FAM136A, COLGALT1, COL10A1, SCARA5, OS9, CACNB4, MSR1, MRPS36


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_50659507NOS1
HgeneNOS1APchr1:162124266chr1:183913457ENST00000493151+12494_506-789212NOS1
HgeneNOS1APchr1:162124266chr1:183913457ENST00000530878+210494_50659502NOS1


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for NOS1AP_COLGALT2


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for NOS1AP_COLGALT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOS1APC0036341Schizophrenia2PSYGENET