	FusionGeneSummary
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	FusionGenePPI
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	RelatedDiseases

Fusion gene ID: 33431

FusionGeneSummary for SEZ6L_SEZ6L

Fusion gene summary

Fusion gene information	Fusion gene name: SEZ6L_SEZ6L
	Fusion gene ID: 33431
		Hgene	Tgene
	Gene symbol	SEZ6L	SEZ6L
	Gene ID	23544	23544
	Gene name	seizure related 6 homolog like	seizure related 6 homolog like
	Synonyms	-	-
	Cytomap	22q12.1	22q12.1
	Type of gene	protein-coding	protein-coding
	Description	seizure 6-like proteinseizure related gene 6-like	seizure 6-like proteinseizure related gene 6-like
	Modification date	20180329	20180329
	UniProtAcc	Q9BYH1	Q9BYH1
	Ensembl transtripts involved in fusion gene	ENST00000404234, ENST00000529632, ENST00000360929, ENST00000248933, ENST00000343706, ENST00000402979, ENST00000403121, ENST00000411842, ENST00000494013,	ENST00000404234, ENST00000529632, ENST00000360929, ENST00000248933, ENST00000343706, ENST00000402979, ENST00000403121, ENST00000411842, ENST00000494013,
Fusion gene scores	* DoF score	6 X 6 X 2=72	4 X 4 X 4=64
	# samples	12	4
	** MAII score	log2(12/72*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0	log2(4/64*10)=-0.678071905112638 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SEZ6L [Title/Abstract] AND SEZ6L [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
ChiTaRS3.1			BF923760	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+

* 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	ENST00000404234	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000404234	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000529632	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000360929	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000248933	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000343706	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000402979	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000403121	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000411842	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000404234	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000529632	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000360929	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000248933	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000343706	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000402979	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000403121	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000411842	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+
intron-intron	ENST00000494013	ENST00000494013	SEZ6L	chr22	26632118	-	SEZ6L	chr22	26632482	+

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FusionProtFeatures for SEZ6L_SEZ6L

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

Hgene	Tgene
SEZ6L Q9BYH1	SEZ6L Q9BYH1

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 SEZ6L_SEZ6L

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 SEZ6L_SEZ6L

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 SEZ6L_SEZ6L

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 SEZ6L_SEZ6L

Diseases associated with fusion partners.
(DisGeNet 4.0)

Partner	Gene	Disease ID	Disease name	# pubmeds	Source
Hgene	SEZ6L	C0005586	Bipolar Disorder	1	PSYGENET
Tgene	SEZ6L	C0005586	Bipolar Disorder	1	PSYGENET

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Fusion gene ID: 33431

FusionGeneSummary for SEZ6L_SEZ6L

FusionProtFeatures for SEZ6L_SEZ6L

FusionGeneSequence for SEZ6L_SEZ6L

FusionGenePPI for SEZ6L_SEZ6L

RelatedDrugs for SEZ6L_SEZ6L

RelatedDiseases for SEZ6L_SEZ6L