	FusionGeneSummary
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	FusionGeneSequence
	FusionGenePPI
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Fusion gene ID: 24215

FusionGeneSummary for NFIA_PIK3R1

Fusion gene summary

Fusion gene information	Fusion gene name: NFIA_PIK3R1
	Fusion gene ID: 24215
		Hgene	Tgene
	Gene symbol	NFIA	PIK3R1
	Gene ID	4774	5295
	Gene name	nuclear factor I A	phosphoinositide-3-kinase regulatory subunit 1
	Synonyms	BRMUTD\|CTF\|NF-I/A\|NF1-A\|NFI-A\|NFI-L	AGM7\|GRB1\|IMD36\|p85\|p85-ALPHA
	Cytomap	1p31.3	5q13.1
	Type of gene	protein-coding	protein-coding
	Description	nuclear factor 1 A-typeCCAAT-box-binding transcription factorTGGCA-binding protein	phosphatidylinositol 3-kinase regulatory subunit alphaPI3-kinase subunit p85-alphaPI3K regulatory subunit alphaphosphatidylinositol 3-kinase 85 kDa regulatory subunit alphaphosphatidylinositol 3-kinase, regulatory subunit, polypeptide 1 (p85 alpha)ph
	Modification date	20180523	20180523
	UniProtAcc	Q12857	P27986
	Ensembl transtripts involved in fusion gene	ENST00000371191, ENST00000407417, ENST00000479364, ENST00000371189, ENST00000403491, ENST00000371187, ENST00000485903, ENST00000371185, ENST00000371184, ENST00000357977,	ENST00000521381, ENST00000521657, ENST00000517643, ENST00000274335, ENST00000396611, ENST00000320694, ENST00000336483, ENST00000523872,
Fusion gene scores	* DoF score	14 X 13 X 7=1274	6 X 6 X 3=108
	# samples	18	6
	** MAII score	log2(18/1274*10)=-2.82329646592663 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(6/108*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: NFIA [Title/Abstract] AND PIK3R1 [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	NFIA	GO:0045944	positive regulation of transcription by RNA polymerase II	17010934
Tgene	PIK3R1	GO:0014065	phosphatidylinositol 3-kinase signaling	7782332
Tgene	PIK3R1	GO:0034976	response to endoplasmic reticulum stress	20348923
Tgene	PIK3R1	GO:0042307	positive regulation of protein import into nucleus	20348923
Tgene	PIK3R1	GO:0048009	insulin-like growth factor receptor signaling pathway	7782332
Tgene	PIK3R1	GO:0050821	protein stabilization	20348923
Tgene	PIK3R1	GO:0060396	growth hormone receptor signaling pathway	7782332

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
ChiTaRS3.1			BX648791	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+

* 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
intron-3CDS	ENST00000371191	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371191	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371191	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000407417	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000407417	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000407417	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000479364	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000479364	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000479364	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371189	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371189	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371189	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000403491	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000403491	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000403491	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371187	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371187	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371187	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000485903	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000485903	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000485903	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371185	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371185	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371185	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371184	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000371184	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000371184	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000357977	ENST00000521381	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-3CDS	ENST00000357977	ENST00000521657	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000517643	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000274335	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000396611	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000320694	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000336483	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+
intron-intron	ENST00000357977	ENST00000523872	NFIA	chr1	61821979	+	PIK3R1	chr5	67593366	+

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FusionProtFeatures for NFIA_PIK3R1

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

Hgene	Tgene
NFIA Q12857	PIK3R1 P27986
Recognizes and binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3' present in viral and cellular promoters and inthe origin of replication of adenovirus type 2. These proteins areindividually capable of activating transcription and replication.

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 NFIA_PIK3R1

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 NFIA_PIK3R1

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

- 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 NFIA_PIK3R1

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
Tgene	PIK3R1	P27986	DB01064	Isoprenaline	Phosphatidylinositol 3-kinase regulatory subunit alpha	small molecule	approved\|investigational

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RelatedDiseases for NFIA_PIK3R1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	PIK3R1	C0001973	Alcoholic Intoxication, Chronic	2	PSYGENET
Tgene	PIK3R1	C0878684	SHORT syndrome	2	ORPHANET;UNIPROT
Tgene	PIK3R1	C0006413	Burkitt Lymphoma	1	CTD_human
Tgene	PIK3R1	C0021655	Insulin Resistance	1	CTD_human
Tgene	PIK3R1	C0024667	Animal Mammary Neoplasms	1	CTD_human
Tgene	PIK3R1	C0024668	Mammary Neoplasms, Experimental	1	CTD_human

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Fusion gene ID: 24215

FusionGeneSummary for NFIA_PIK3R1

FusionProtFeatures for NFIA_PIK3R1

FusionGeneSequence for NFIA_PIK3R1

FusionGenePPI for NFIA_PIK3R1

RelatedDrugs for NFIA_PIK3R1

RelatedDiseases for NFIA_PIK3R1