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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: 858

FusionGeneSummary for ADCYAP1R1_DFNA5

check button Fusion gene summary
Fusion gene informationFusion gene name: ADCYAP1R1_DFNA5
Fusion gene ID: 858
HgeneTgene
Gene symbol

ADCYAP1R1

DFNA5

Gene ID

117

Gene nameADCYAP receptor type I
SynonymsPAC1|PAC1R|PACAPR|PACAPRI
Cytomap

7p14.3

Type of geneprotein-coding
Descriptionpituitary adenylate cyclase-activating polypeptide type I receptorPACAP receptor 1PACAP type I receptorPACAP-R1adenylate cyclase activating polypeptide 1 (pituitary) receptor type Ipituitary adenylate cyclase activating polypeptide 1 receptor type I
Modification date20180523
UniProtAcc

P41586

Ensembl transtripts involved in fusion geneENST00000304166, ENST00000409363, 
ENST00000396211, ENST00000409489, 
ENST00000342947, ENST00000419307, 
ENST00000545231, ENST00000409970, 
ENST00000409775, ENST00000559637, 
Fusion gene scores* DoF score6 X 7 X 3=1263 X 3 X 3=27
# samples 73
** MAII scorelog2(7/126*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ADCYAP1R1 [Title/Abstract] AND DFNA5 [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
TCGARVLGGTCGA-DU-A5TY-01AADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
* 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-shiftENST00000304166ENST00000342947ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000304166ENST00000419307ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000304166ENST00000545231ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000304166ENST00000409970ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000304166ENST00000409775ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
5CDS-5UTRENST00000304166ENST00000559637ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409363ENST00000342947ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409363ENST00000419307ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409363ENST00000545231ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409363ENST00000409970ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409363ENST00000409775ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
5CDS-5UTRENST00000409363ENST00000559637ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000396211ENST00000342947ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000396211ENST00000419307ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000396211ENST00000545231ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000396211ENST00000409970ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000396211ENST00000409775ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
5CDS-5UTRENST00000396211ENST00000559637ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409489ENST00000342947ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409489ENST00000419307ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409489ENST00000545231ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409489ENST00000409970ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
Frame-shiftENST00000409489ENST00000409775ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-
5CDS-5UTRENST00000409489ENST00000559637ADCYAP1R1chr7

31132349

+DFNA5chr7

24750007

-

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FusionProtFeatures for ADCYAP1R1_DFNA5


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ADCYAP1R1

P41586

DFNA5

This is a receptor for PACAP-27 and PACAP-38. Theactivity of this receptor is mediated by G proteins which activateadenylyl cyclase. May regulate the release of adrenocorticotropin,luteinizing hormone, growth hormone, prolactin, epinephrine, andcatecholamine. May play a role in spermatogenesis and spermmotility. Causes smooth muscle relaxation and secretion in thegastrointestinal tract. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 ADCYAP1R1_DFNA5


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 ADCYAP1R1_DFNA5


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
ADCYAP1R1CLUDFNA5PTN, EGFR, BIRC6, SCN2B, NTRK1, SNW1, CDC5L, EPHA1, SIGLECL1, C16orf58, PLEC, MUL1, ZSCAN29, SLC27A2, AGPAT6, RPS3, MRS2


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 ADCYAP1R1_DFNA5


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 ADCYAP1R1_DFNA5


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADCYAP1R1C0004096Asthma1CTD_human
HgeneADCYAP1R1C0011570Mental Depression1PSYGENET
HgeneADCYAP1R1C0011581Depressive disorder1PSYGENET
HgeneADCYAP1R1C0036341Schizophrenia1PSYGENET