	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
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Fusion gene ID: 28389

FusionGeneSummary for PPP1R9A_MDM4

Fusion gene summary

Fusion gene information	Fusion gene name: PPP1R9A_MDM4
	Fusion gene ID: 28389
		Hgene	Tgene
	Gene symbol	PPP1R9A	MDM4
	Gene ID	55607	4194
	Gene name	protein phosphatase 1 regulatory subunit 9A	MDM4, p53 regulator
	Synonyms	NRB1\|NRBI\|Neurabin-I	HDMX\|MDMX\|MRP1
	Cytomap	7q21.3	1q32.1
	Type of gene	protein-coding	protein-coding
	Description	neurabin-1neural tissue-specific F-actin-binding protein Iprotein phosphatase 1, regulatory (inhibitor) subunit 9A	protein Mdm4MDM4 protein variant GMDM4 protein variant YMDM4-related protein 1Mdm4 p53 binding protein homologdouble minute 4, human homolog of; p53-binding proteinmdm2-like p53-binding proteinprotein Mdmx
	Modification date	20180523	20180519
	UniProtAcc	Q9ULJ8	O15151
	Ensembl transtripts involved in fusion gene	ENST00000433360, ENST00000340694, ENST00000424654, ENST00000433881, ENST00000289495, ENST00000456331,	ENST00000367182, ENST00000463049, ENST00000507825, ENST00000454264, ENST00000367183, ENST00000367180, ENST00000391947,
Fusion gene scores	* DoF score	6 X 5 X 4=120	6 X 7 X 3=126
	# samples	6	7
	** MAII score	log2(6/120*10)=-1 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(7/126*10)=-0.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: PPP1R9A [Title/Abstract] AND MDM4 [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
Tgene	MDM4	GO:0000122	negative regulation of transcription by RNA polymerase II	9226370
Tgene	MDM4	GO:0065003	protein-containing complex assembly	10608892

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			DA416644	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+

* 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-3UTR	ENST00000433360	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000433360	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433360	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433360	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433360	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433360	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433360	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000340694	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000340694	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000340694	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000340694	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000340694	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000340694	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000340694	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000424654	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000424654	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000424654	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000424654	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000424654	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000424654	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000424654	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000433881	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000433881	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433881	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433881	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433881	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433881	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000433881	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000289495	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000289495	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000289495	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000289495	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000289495	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000289495	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000289495	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000456331	ENST00000367182	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-3UTR	ENST00000456331	ENST00000463049	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000456331	ENST00000507825	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000456331	ENST00000454264	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000456331	ENST00000367183	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000456331	ENST00000367180	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+
intron-intron	ENST00000456331	ENST00000391947	PPP1R9A	chr7	94789006	+	MDM4	chr1	204522210	+

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FusionProtFeatures for PPP1R9A_MDM4

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

Hgene	Tgene
PPP1R9A Q9ULJ8	MDM4 O15151
	Inhibits p53/TP53- and TP73/p73-mediated cell cyclearrest and apoptosis by binding its transcriptional activationdomain. Inhibits degradation of MDM2. Can reverse MDM2-targeteddegradation of TP53 while maintaining suppression of TP53transactivation and apoptotic functions.{ECO:0000269\|PubMed:16163388, ECO:0000269\|PubMed:16511572}.

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 PPP1R9A_MDM4

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 PPP1R9A_MDM4

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 PPP1R9A_MDM4

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 PPP1R9A_MDM4

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Tgene	MDM4	C0017636	Glioblastoma	1	CTD_human
Tgene	MDM4	C0032273	Pneumoconiosis	1	CTD_human
Tgene	MDM4	C0041696	Unipolar Depression	1	PSYGENET
Tgene	MDM4	C1269683	Major Depressive Disorder	1	PSYGENET
Tgene	MDM4	C1458155	Mammary Neoplasms	1	CTD_human

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Fusion gene ID: 28389

FusionGeneSummary for PPP1R9A_MDM4

FusionProtFeatures for PPP1R9A_MDM4

FusionGeneSequence for PPP1R9A_MDM4

FusionGenePPI for PPP1R9A_MDM4

RelatedDrugs for PPP1R9A_MDM4

RelatedDiseases for PPP1R9A_MDM4