	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 22899

FusionGeneSummary for MVB12A_NWD1

Fusion gene summary

Fusion gene information	Fusion gene name: MVB12A_NWD1
	Fusion gene ID: 22899
		Hgene	Tgene
	Gene symbol	MVB12A	NWD1
	Gene ID	93343	284434
	Gene name	multivesicular body subunit 12A	NACHT and WD repeat domain containing 1
	Synonyms	CFBP\|FAM125A	-
	Cytomap	19p13.11	19p13.11
	Type of gene	protein-coding	protein-coding
	Description	multivesicular body subunit 12ACIN85/CD2AP family binding proteinESCRT-I complex subunit MVB12Afamily with sequence similarity 125, member A	NACHT domain- and WD repeat-containing protein 1NACHT and WD repeat domain-containing protein 1
	Modification date	20180522	20180403
	UniProtAcc	Q96EY5	Q149M9
	Ensembl transtripts involved in fusion gene	ENST00000529490, ENST00000317040, ENST00000392702, ENST00000529939, ENST00000528515, ENST00000543795,	ENST00000524140, ENST00000549814, ENST00000379808, ENST00000523826, ENST00000552788, ENST00000339803,
Fusion gene scores	* DoF score	1 X 1 X 1=1	1 X 1 X 1=1
	# samples	1	1
	** MAII score	log2(1/1*10)=3.32192809488736	log2(1/1*10)=3.32192809488736
Context	PubMed: MVB12A [Title/Abstract] AND NWD1 [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

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	LD	OV	TCGA-13-1410-01A	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+

* 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	ENST00000529490	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529490	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529490	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529490	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529490	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529490	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-3CDS	ENST00000317040	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000317040	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000317040	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000317040	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000317040	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000317040	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-3CDS	ENST00000392702	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000392702	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000392702	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000392702	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000392702	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000392702	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-3CDS	ENST00000529939	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529939	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529939	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529939	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529939	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000529939	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-3CDS	ENST00000528515	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000528515	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000528515	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000528515	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000528515	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000528515	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-3CDS	ENST00000543795	ENST00000524140	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000543795	ENST00000549814	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000543795	ENST00000379808	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000543795	ENST00000523826	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000543795	ENST00000552788	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+
intron-intron	ENST00000543795	ENST00000339803	MVB12A	chr19	17524114	+	NWD1	chr19	16910697	+

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FusionProtFeatures for MVB12A_NWD1

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

Hgene	Tgene
MVB12A Q96EY5	NWD1 Q149M9
Component of the ESCRT-I complex, a regulator ofvesicular trafficking process. Required for the sorting ofendocytic ubiquitinated cargos into multivesicular bodies. May beinvolved in the ligand-mediated internalization and down-regulation of EGF receptor. {ECO:0000269\|PubMed:16895919}.	May play a role in the control of androgen receptor (AR)protein steady-state levels. {ECO:0000269\|PubMed:24681825}.

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 MVB12A_NWD1

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 MVB12A_NWD1

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
MVB12A	TSG101, VPS37A, CD2AP, SH3KBP1, MVB12B, CEP55, APP, VPS37B, VPS37C, CIDEB, SLC25A41, TAS2R7, VPS28, ARFIP1, CEP41, SMCHD1, WARS, XPO1, CHMP4B, GRB2, MANSC1, UBE2U, CDK5R1	NWD1

- 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 MVB12A_NWD1

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 MVB12A_NWD1

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner

Gene

Disease ID

Disease name

# pubmeds

Source

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Fusion gene ID: 22899

FusionGeneSummary for MVB12A_NWD1

FusionProtFeatures for MVB12A_NWD1

FusionGeneSequence for MVB12A_NWD1

FusionGenePPI for MVB12A_NWD1

RelatedDrugs for MVB12A_NWD1

RelatedDiseases for MVB12A_NWD1