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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: 38227

FusionGeneSummary for TM9SF1_NPAS3

check button Fusion gene summary
Fusion gene informationFusion gene name: TM9SF1_NPAS3
Fusion gene ID: 38227
HgeneTgene
Gene symbol

TM9SF1

NPAS3

Gene ID

10548

64067

Gene nametransmembrane 9 superfamily member 1neuronal PAS domain protein 3
SynonymsHMP70|MP70MOP6|PASD6|bHLHe12
Cytomap

14q12

14q13.1

Type of geneprotein-codingprotein-coding
Descriptiontransmembrane 9 superfamily member 1MP70 protein family membermultispanning membrane protein (70kD)transmembrane protein 9 superfamily member 1neuronal 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 PAS3
Modification date2018052320180523
UniProtAcc

O15321

Q8IXF0

Ensembl transtripts involved in fusion geneENST00000261789, ENST00000528669, 
ENST00000556387, ENST00000530611, 
ENST00000524835, ENST00000396854, 
ENST00000551492, ENST00000346562, 
ENST00000341321, ENST00000548645, 
ENST00000356141, ENST00000357798, 
ENST00000547068, ENST00000551008, 
ENST00000550662, 
Fusion gene scores* DoF score3 X 3 X 3=279 X 7 X 6=378
# samples 310
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(10/378*10)=-1.91838623444635
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: TM9SF1 [Title/Abstract] AND NPAS3 [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
TCGALDLUADTCGA-78-7155-01ATM9SF1chr14

24661854

-NPAS3chr14

34081611

+
* 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
5CDS-intronENST00000261789ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000261789ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000261789ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000528669ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000528669ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000556387ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000556387ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000530611ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000530611ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000524835ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000524835ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000551492TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000346562TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000341321TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000548645TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000356141TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000357798TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000547068TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-intronENST00000396854ENST00000551008TM9SF1chr14

24661854

-NPAS3chr14

34081611

+
5CDS-3UTRENST00000396854ENST00000550662TM9SF1chr14

24661854

-NPAS3chr14

34081611

+

Top

FusionProtFeatures for TM9SF1_NPAS3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TM9SF1

O15321

NPAS3

Q8IXF0

Plays an essential role in autophagy.{ECO:0000269|PubMed:19029833}. May play a broad role in neurogenesis. May controlregulatory pathways relevant to schizophrenia and to psychoticillness (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


Top

FusionGeneSequence for TM9SF1_NPAS3


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 TM9SF1_NPAS3


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
TM9SF1MME, ATP6V1B1, P2RX7, TCOF1, RNASEH1, CHMP4B, CLEC2D, MTNR1ANPAS3ARNT2, TP53


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 TM9SF1_NPAS3


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 TM9SF1_NPAS3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneNPAS3C0036341Schizophrenia4PSYGENET
TgeneNPAS3C0005586Bipolar Disorder3PSYGENET
TgeneNPAS3C0033975Psychotic Disorders1PSYGENET
TgeneNPAS3C0041696Unipolar Depression1PSYGENET
TgeneNPAS3C0349204Nonorganic psychosis1PSYGENET
TgeneNPAS3C1269683Major Depressive Disorder1PSYGENET