	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 36917

FusionGeneSummary for SYNE2_NAPEPLD

Fusion gene summary

Fusion gene information	Fusion gene name: SYNE2_NAPEPLD
	Fusion gene ID: 36917
		Hgene	Tgene
	Gene symbol	SYNE2	NAPEPLD
	Gene ID	23224	222236
	Gene name	spectrin repeat containing nuclear envelope protein 2	N-acyl phosphatidylethanolamine phospholipase D
	Synonyms	EDMD5\|KASH2\|NUA\|NUANCE\|Nesp2\|Nesprin-2\|SYNE-2\|TROPH	C7orf18\|FMP30\|NAPE-PLD
	Cytomap	14q23.2	7q22.1
	Type of gene	protein-coding	protein-coding
	Description	nesprin-2KASH domain-containing protein 2nesprin 2nuclear envelope spectrin repeat protein 2nucleus and actin connecting element proteinpolytrophinspectrin repeat containing, nuclear envelope 2synaptic nuclear envelope protein 2synaptic nuclei exp	N-acyl-phosphatidylethanolamine-hydrolyzing phospholipase DNAPE-hydrolyzing phospholipase D
	Modification date	20180523	20180523
	UniProtAcc	Q8WXH0	Q6IQ20
	Ensembl transtripts involved in fusion gene	ENST00000357395, ENST00000358025, ENST00000344113, ENST00000341472, ENST00000356081, ENST00000554584, ENST00000555002, ENST00000394768, ENST00000556725, ENST00000553455, ENST00000555022, ENST00000554805, ENST00000458046, ENST00000441438,	ENST00000341533, ENST00000417955, ENST00000465647, ENST00000455523, ENST00000427257,
Fusion gene scores	* DoF score	13 X 12 X 6=936	2 X 2 X 1=4
	# samples	15	2
	** MAII score	log2(15/936*10)=-2.64154602908752 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/4*10)=2.32192809488736
Context	PubMed: SYNE2 [Title/Abstract] AND NAPEPLD [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	SYNE2	GO:0090286	cytoskeletal anchoring at nuclear membrane	18396275

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			AW753213	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+

* 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
5UTR-3UTR	ENST00000357395	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5UTR-3UTR	ENST00000357395	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5UTR-intron	ENST00000357395	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5UTR-intron	ENST00000357395	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5UTR-intron	ENST00000357395	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000358025	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000358025	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000358025	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000358025	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000358025	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000344113	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000344113	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000344113	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000344113	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000344113	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000341472	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000341472	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000341472	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000341472	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000341472	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000356081	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000356081	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000356081	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000356081	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000356081	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000554584	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-3UTR	ENST00000554584	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000554584	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000554584	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
5CDS-intron	ENST00000554584	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000555002	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000555002	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555002	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555002	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555002	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000394768	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000394768	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000394768	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000394768	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000394768	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000556725	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000556725	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000556725	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000556725	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000556725	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000553455	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000553455	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000553455	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000553455	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000553455	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000555022	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000555022	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555022	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555022	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000555022	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000554805	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000554805	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000554805	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000554805	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000554805	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000458046	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000458046	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000458046	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000458046	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000458046	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000441438	ENST00000341533	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-3UTR	ENST00000441438	ENST00000417955	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000441438	ENST00000465647	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000441438	ENST00000455523	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+
intron-intron	ENST00000441438	ENST00000427257	SYNE2	chr14	64519712	+	NAPEPLD	chr7	102741245	+

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FusionProtFeatures for SYNE2_NAPEPLD

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

Hgene	Tgene
SYNE2 Q8WXH0	NAPEPLD Q6IQ20
	Hydrolyzes N-acyl-phosphatidylethanolamines (NAPEs) toproduce N-acylethanolamines (NAEs) and phosphatidic acid(PubMed:25684574, PubMed:14634025, PubMed:16527816). Responsiblefor the generation of these bioactive fatty acid ethanolamides(FAEs), including anandamide (N-arachidonoylethanolamine), theligand of cannabinoid and vanilloid receptors (PubMed:14634025).As a regulator of lipid metabolism in the adipose tissue, mediatesthe crosstalk between adipocytes, gut microbiota and immune cellsto control body temperature and weight. In particular, regulatesenergy homeostasis by promoting cold-induced brown or beigeadipocyte differentiation program to generate heat from fattyacids and glucose (By similarity). {ECO:0000250\|UniProtKB:Q8BH82,ECO:0000269\|PubMed:14634025, ECO:0000269\|PubMed:16527816,ECO:0000269\|PubMed:25684574}.

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 SYNE2_NAPEPLD

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 SYNE2_NAPEPLD

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 SYNE2_NAPEPLD

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 SYNE2_NAPEPLD

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SYNE2	C0004238	Atrial Fibrillation	1	CTD_human
Hgene	SYNE2	C0007134	Renal Cell Carcinoma	1	CTD_human
Hgene	SYNE2	C2751805	EMERY-DREIFUSS MUSCULAR DYSTROPHY 5, AUTOSOMAL DOMINANT	1	UNIPROT

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Fusion gene ID: 36917

FusionGeneSummary for SYNE2_NAPEPLD

FusionProtFeatures for SYNE2_NAPEPLD

FusionGeneSequence for SYNE2_NAPEPLD

FusionGenePPI for SYNE2_NAPEPLD

RelatedDrugs for SYNE2_NAPEPLD

RelatedDiseases for SYNE2_NAPEPLD