	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 31131

FusionGeneSummary for RGS6_NPAS3

Fusion gene summary

Fusion gene information	Fusion gene name: RGS6_NPAS3
	Fusion gene ID: 31131
		Hgene	Tgene
	Gene symbol	RGS6	NPAS3
	Gene ID	9628	64067
	Gene name	regulator of G protein signaling 6	neuronal PAS domain protein 3
	Synonyms	GAP\|HA117\|S914	MOP6\|PASD6\|bHLHe12
	Cytomap	14q24.2	14q13.1
	Type of gene	protein-coding	protein-coding
	Description	regulator of G-protein signaling 6regulator of G-protein signalling 6	neuronal 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 date	20180522	20180523
	UniProtAcc	P49758	Q8IXF0
	Ensembl transtripts involved in fusion gene	ENST00000553525, ENST00000555571, ENST00000553530, ENST00000556437, ENST00000355512, ENST00000406236, ENST00000404301, ENST00000407322, ENST00000402788, ENST00000343854, ENST00000434263, ENST00000554782, ENST00000553690,	ENST00000551492, ENST00000346562, ENST00000341321, ENST00000548645, ENST00000356141, ENST00000357798, ENST00000547068, ENST00000551008, ENST00000550662,
Fusion gene scores	* DoF score	3 X 3 X 3=27	9 X 7 X 6=378
	# samples	3	10
	** MAII score	log2(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: RGS6 [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)

Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	RGS6	GO:0043547	positive regulation of GTPase activity	10521509

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 type	Source	Cancer type	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
TCGA	RV	LGG	TCGA-DU-7006-01A	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+

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

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.

ORF	Henst	Tenst	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
Frame-shift	ENST00000553525	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553525	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000553525	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000555571	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000555571	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000553530	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000553530	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000556437	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000556437	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000355512	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000355512	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000406236	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000406236	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000404301	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000404301	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000407322	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000407322	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000402788	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000402788	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000343854	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000343854	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000434263	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000434263	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
Frame-shift	ENST00000554782	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
5CDS-intron	ENST00000554782	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000551492	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000346562	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000341321	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000548645	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000356141	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000357798	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000547068	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-3CDS	ENST00000553690	ENST00000551008	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+
intron-intron	ENST00000553690	ENST00000550662	RGS6	chr14	72976987	+	NPAS3	chr14	34145417	+

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FusionProtFeatures for RGS6_NPAS3

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
RGS6 P49758	NPAS3 Q8IXF0
	May play a broad role in neurogenesis. May controlregulatory pathways relevant to schizophrenia and to psychoticillness (By similarity). {ECO:0000250}.

Retention 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.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

- In-frame and not-retained protein feature among the 13 regional features.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Protein feature

Protein feature note

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FusionGeneSequence for RGS6_NPAS3

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 RGS6_NPAS3

Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in
ChiPPI page
.

Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)

Hgene	Hgene's interactors	Tgene	Tgene's interactors
RGS6	DMAP1, DNMT1, STMN2, GNB5, GNB1, GNB2, GNB3, GNB4, HSP90AA1, CCDC85B	NPAS3	ARNT2, TP53

- Retained PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Still interaction with

- Lost PPIs in in-frame fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

- Retained PPIs, but lost function due to frame-shift fusion.

Partner

Gene

Hbp

Tbp

ENST

Strand

BPexon

TotalExon

Protein feature loci

*BPloci

TotalLen

Interaction lost with

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RelatedDrugs for RGS6_NPAS3

Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)

Partner

Gene

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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RelatedDiseases for RGS6_NPAS3

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	RGS6	C0525045	Mood Disorders	1	PSYGENET
Tgene	NPAS3	C0036341	Schizophrenia	4	PSYGENET
Tgene	NPAS3	C0005586	Bipolar Disorder	3	PSYGENET
Tgene	NPAS3	C0033975	Psychotic Disorders	1	PSYGENET
Tgene	NPAS3	C0041696	Unipolar Depression	1	PSYGENET
Tgene	NPAS3	C0349204	Nonorganic psychosis	1	PSYGENET
Tgene	NPAS3	C1269683	Major Depressive Disorder	1	PSYGENET

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Fusion gene ID: 31131

FusionGeneSummary for RGS6_NPAS3

FusionProtFeatures for RGS6_NPAS3

FusionGeneSequence for RGS6_NPAS3

FusionGenePPI for RGS6_NPAS3

RelatedDrugs for RGS6_NPAS3

RelatedDiseases for RGS6_NPAS3