	FusionGeneSummary
	FusionProtFeature
	FusionGeneSequence
	FusionGenePPI
	RelatedDrugs
	RelatedDiseases

Fusion gene ID: 36901

FusionGeneSummary for SYNE1_CEACAM21

Fusion gene summary

Fusion gene information	Fusion gene name: SYNE1_CEACAM21
	Fusion gene ID: 36901
		Hgene	Tgene
	Gene symbol	SYNE1	CEACAM21
	Gene ID	23345	90273
	Gene name	spectrin repeat containing nuclear envelope protein 1	carcinoembryonic antigen related cell adhesion molecule 21
	Synonyms	8B\|ARCA1\|C6orf98\|CPG2\|EDMD4\|KASH1\|MYNE1\|Nesp1\|SCAR8\|dJ45H2.2	CEACAM3\|R29124_1
	Cytomap	6q25.2	19q13.2
	Type of gene	protein-coding	protein-coding
	Description	nesprin-1CPG2 full lengthKASH domain-containing protein 1enaptinmyocyte nuclear envelope protein 1nesprin 1spectrin repeat containing, nuclear envelope 1synaptic nuclear envelope protein 1synaptic nuclei expressed gene 1	carcinoembryonic antigen-related cell adhesion molecule 21
	Modification date	20180519	20180519
	UniProtAcc	Q8NF91	Q3KPI0
	Ensembl transtripts involved in fusion gene	ENST00000367255, ENST00000356820, ENST00000423061, ENST00000448038, ENST00000341594, ENST00000265368, ENST00000367253, ENST00000367248, ENST00000413186, ENST00000466159, ENST00000539504, ENST00000347037, ENST00000354674, ENST00000495090,	ENST00000407170, ENST00000482870, ENST00000187608, ENST00000401445,
Fusion gene scores	* DoF score	9 X 10 X 4=360	2 X 2 X 2=8
	# samples	10	2
	** MAII score	log2(10/360*10)=-1.84799690655495 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(2/8*10)=1.32192809488736
Context	PubMed: SYNE1 [Title/Abstract] AND CEACAM21 [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	SYNE1	GO:0007030	Golgi organization	12808039
Hgene	SYNE1	GO:0042692	muscle cell differentiation	11792814
Hgene	SYNE1	GO:0090286	cytoskeletal anchoring at nuclear membrane	18396275
Hgene	SYNE1	GO:0090292	nuclear matrix anchoring at nuclear membrane	11801724

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			BF902791	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+

* 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-intron	ENST00000367255	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367255	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367255	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367255	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000356820	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000356820	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000356820	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000356820	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000423061	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000423061	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000423061	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000423061	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000448038	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000448038	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000448038	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000448038	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000341594	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000341594	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000341594	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000341594	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000265368	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000265368	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000265368	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000265368	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367253	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367253	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367253	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367253	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367248	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367248	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367248	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000367248	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000413186	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000413186	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000413186	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000413186	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000466159	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000466159	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000466159	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000466159	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000539504	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000539504	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000539504	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000539504	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000347037	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000347037	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000347037	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000347037	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000354674	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000354674	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000354674	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000354674	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000495090	ENST00000407170	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000495090	ENST00000482870	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000495090	ENST00000187608	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+
intron-intron	ENST00000495090	ENST00000401445	SYNE1	chr6	152702184	-	CEACAM21	chr19	42079403	+

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FusionProtFeatures for SYNE1_CEACAM21

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

Hgene	Tgene
SYNE1 Q8NF91	CEACAM21 Q3KPI0

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 SYNE1_CEACAM21

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 SYNE1_CEACAM21

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 SYNE1_CEACAM21

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 SYNE1_CEACAM21

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SYNE1	C0005586	Bipolar Disorder	3	PSYGENET
Hgene	SYNE1	C0009404	Colorectal Neoplasms	2	CTD_human
Hgene	SYNE1	C0154409	Recurrent major depressive episodes	1	PSYGENET
Hgene	SYNE1	C0236969	Substance-Related Disorders	1	CTD_human
Hgene	SYNE1	C1458155	Mammary Neoplasms	1	CTD_human
Hgene	SYNE1	C2751807	Emery-Dreifuss Muscular Dystrophy 4	1	UNIPROT
Hgene	SYNE1	C2931822	Nasopharyngeal carcinoma	1	CTD_human
Tgene	CEACAM21	C0036341	Schizophrenia	1	PSYGENET

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Fusion gene ID: 36901

FusionGeneSummary for SYNE1_CEACAM21

FusionProtFeatures for SYNE1_CEACAM21

FusionGeneSequence for SYNE1_CEACAM21

FusionGenePPI for SYNE1_CEACAM21

RelatedDrugs for SYNE1_CEACAM21

RelatedDiseases for SYNE1_CEACAM21