FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact
Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 24667

FusionGeneSummary for NPAS3_AKAP6

check button Fusion gene summary
Fusion gene informationFusion gene name: NPAS3_AKAP6
Fusion gene ID: 24667
HgeneTgene
Gene symbol

NPAS3

AKAP6

Gene ID

64067

9472

Gene nameneuronal PAS domain protein 3A-kinase anchoring protein 6
SynonymsMOP6|PASD6|bHLHe12ADAP100|ADAP6|AKAP100|PRKA6|mAKAP
Cytomap

14q13.1

14q12

Type of geneprotein-codingprotein-coding
Descriptionneuronal PAS domain-containing protein 3PAS domain-containing protein 6basic-helix-loop-helix-PAS protein MOP6class E basic helix-loop-helix protein 12member of PAS protein 6neuronal PAS3A-kinase anchor protein 6A kinase (PRKA) anchor protein 6A-kinase anchor protein 100 kDaAKAP 100AKAP-6protein kinase A anchoring protein 6
Modification date2018052320180523
UniProtAcc

Q8IXF0

Q13023

Ensembl transtripts involved in fusion geneENST00000551492, ENST00000346562, 
ENST00000341321, ENST00000548645, 
ENST00000356141, ENST00000357798, 
ENST00000547068, ENST00000551008, 
ENST00000550662, 		ENST00000280979, 
ENST00000557354, ENST00000557272, 
ENST00000554449, 
Fusion gene scores* DoF score4 X 5 X 3=6010 X 8 X 7=560
# samples 612
** MAII scorelog2(6/60*10)=0log2(12/560*10)=-2.22239242133645
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: NPAS3 [Title/Abstract] AND AKAP6 [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
TgeneAKAP6

GO:0060306

regulation of membrane repolarization

11299204

TgeneAKAP6

GO:0071320

cellular response to cAMP

11299204

TgeneAKAP6

GO:1901381

positive regulation of potassium ion transmembrane transport

11299204

TgeneAKAP6

GO:1902261

positive regulation of delayed rectifier potassium channel activity

11299204


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
TCGARVLUADTCGA-55-7913-01BNPAS3chr14

33408572

+AKAP6chr14

33147517

+
TCGARVOVTCGA-25-1326-01ANPAS3chr14

33525200

+AKAP6chr14

33290608

+
* 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
intron-3CDSENST00000551492ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000551492ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000551492ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-intronENST00000551492ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000346562ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000346562ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000346562ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
5CDS-intronENST00000346562ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000341321ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000341321ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000341321ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
5CDS-intronENST00000341321ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000548645ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000548645ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000548645ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
5CDS-intronENST00000548645ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000356141ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000356141ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000356141ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
5CDS-intronENST00000356141ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000357798ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000357798ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000357798ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
5CDS-intronENST00000357798ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000547068ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000547068ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000547068ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-intronENST00000547068ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000551008ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000551008ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000551008ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-intronENST00000551008ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000550662ENST00000280979NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000550662ENST00000557354NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-3CDSENST00000550662ENST00000557272NPAS3chr14

33408572

+AKAP6chr14

33147517

+
intron-intronENST00000550662ENST00000554449NPAS3chr14

33408572

+AKAP6chr14

33147517

+
Frame-shiftENST00000551492ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000551492ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000551492ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000551492ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000346562ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000346562ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000346562ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000346562ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
Frame-shiftENST00000341321ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000341321ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000341321ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000341321ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000548645ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000548645ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000548645ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000548645ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
Frame-shiftENST00000356141ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000356141ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000356141ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
5CDS-intronENST00000356141ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000357798ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000357798ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000357798ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000357798ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000547068ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000547068ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000547068ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000547068ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000551008ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000551008ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000551008ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000551008ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-3CDSENST00000550662ENST00000280979NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000550662ENST00000557354NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000550662ENST00000557272NPAS3chr14

33525200

+AKAP6chr14

33290608

+
intron-intronENST00000550662ENST00000554449NPAS3chr14

33525200

+AKAP6chr14

33290608

+

Top

FusionProtFeatures for NPAS3_AKAP6


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
NPAS3

Q8IXF0

AKAP6

Q13023

May play a broad role in neurogenesis. May controlregulatory pathways relevant to schizophrenia and to psychoticillness (By similarity). {ECO:0000250}. Binds to type II regulatory subunits of protein kinase Aand anchors/targets them to the nuclear membrane or sarcoplasmicreticulum. May act as an adapter for assembling multiproteincomplexes.

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


Top

FusionGeneSequence for NPAS3_AKAP6


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).

Top

FusionGenePPI for NPAS3_AKAP6


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
NPAS3ARNT2, TP53AKAP6PRKAR2A, RYR2, PDE4A, PDE4D, CALM1, CDC5L, DISC1, DTNBP1, MYC, CFTR


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


Top

RelatedDrugs for NPAS3_AKAP6


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

Top

RelatedDiseases for NPAS3_AKAP6


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneNPAS3C0036341Schizophrenia4PSYGENET
HgeneNPAS3C0005586Bipolar Disorder3PSYGENET
HgeneNPAS3C0033975Psychotic Disorders1PSYGENET
HgeneNPAS3C0041696Unipolar Depression1PSYGENET
HgeneNPAS3C0349204Nonorganic psychosis1PSYGENET
HgeneNPAS3C1269683Major Depressive Disorder1PSYGENET