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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: 24601

FusionGeneSummary for NOS1AP_AHI1

check button Fusion gene summary
Fusion gene informationFusion gene name: NOS1AP_AHI1
Fusion gene ID: 24601
HgeneTgene
Gene symbol

NOS1AP

AHI1

Gene ID

9722

54806

Gene namenitric oxide synthase 1 adaptor proteinAbelson helper integration site 1
Synonyms6330408P19Rik|CAPONAHI-1|JBTS3|ORF1|dJ71N10.1
Cytomap

1q23.3

6q23.3

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 carjouberinabelson helper integration site 1 protein homologcontatins SH3 and WD40 domains
Modification date2018051920180519
UniProtAcc

O75052

Q8N157

Ensembl transtripts involved in fusion geneENST00000530878, ENST00000361897, 
ENST00000493151, ENST00000454693, 
ENST00000367800, ENST00000457866, 
ENST00000417892, ENST00000327035, 
ENST00000488690, ENST00000367798, 
ENST00000528103, ENST00000534469, 
ENST00000531527, 
Fusion gene scores* DoF score12 X 8 X 7=6726 X 7 X 5=210
# samples 147
** MAII scorelog2(14/672*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(7/210*10)=-1.58496250072116
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NOS1AP [Title/Abstract] AND AHI1 [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
TCGARVBLCATCGA-E7-A541-01ANOS1APchr1

162124266

+AHI1chr6

135679325

-
* 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
Frame-shiftENST00000530878ENST00000367800NOS1APchr1

162124266

+AHI1chr6

135679325

-
Frame-shiftENST00000530878ENST00000457866NOS1APchr1

162124266

+AHI1chr6

135679325

-
Frame-shiftENST00000530878ENST00000417892NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000327035NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000488690NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000367798NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000528103NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000534469NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000530878ENST00000531527NOS1APchr1

162124266

+AHI1chr6

135679325

-
Frame-shiftENST00000361897ENST00000367800NOS1APchr1

162124266

+AHI1chr6

135679325

-
Frame-shiftENST00000361897ENST00000457866NOS1APchr1

162124266

+AHI1chr6

135679325

-
Frame-shiftENST00000361897ENST00000417892NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000327035NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000488690NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000367798NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000528103NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000534469NOS1APchr1

162124266

+AHI1chr6

135679325

-
5CDS-intronENST00000361897ENST00000531527NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000493151ENST00000367800NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000493151ENST00000457866NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000493151ENST00000417892NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000327035NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000488690NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000367798NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000528103NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000534469NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000493151ENST00000531527NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000454693ENST00000367800NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000454693ENST00000457866NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-3CDSENST00000454693ENST00000417892NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000327035NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000488690NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000367798NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000528103NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000534469NOS1APchr1

162124266

+AHI1chr6

135679325

-
intron-intronENST00000454693ENST00000531527NOS1APchr1

162124266

+AHI1chr6

135679325

-

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FusionProtFeatures for NOS1AP_AHI1


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

O75052

AHI1

Q8N157

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}.

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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FusionGeneSequence for NOS1AP_AHI1


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.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for NOS1AP_AHI1


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, TRPC4APAHI1ELAVL1, KHDRBS1, DNM2, OFD1, PCM1, DSP, DVL1, ECD, HAUS8, IQCB1, MAPK9, MB21D2, NMT1, PPP2CA, PPP2R1A, PPP2R2A, SIRT2, SSX2IP, UNC45A, CEP131, CAD, CCDC138, LRRC49, MED4, PPP2R2B, SRP72, WRAP73, CC2D2A, DOCK5, PTPRQ, PIBF1, SLC9A3R2, PAFAH1B1, NINL, DCTN1, DCTN2


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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RelatedDrugs for NOS1AP_AHI1


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_AHI1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNOS1APC0036341Schizophrenia2PSYGENET
TgeneAHI1C1837713JOUBERT SYNDROME 35CTD_human;UNIPROT
TgeneAHI1C0004352Autistic Disorder1CTD_human
TgeneAHI1C0005586Bipolar Disorder1PSYGENET
TgeneAHI1C0007760Cerebellar Diseases1CTD_human
TgeneAHI1C0035304Retinal Degeneration1CTD_human
TgeneAHI1C0036341Schizophrenia1CTD_human
TgeneAHI1C0162538Immunoglobulin A deficiency (disorder)1CTD_human
TgeneAHI1C3714756Intellectual Disability1CTD_human;HPO