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Fusion gene ID: 35409

FusionGeneSummary for SORL1_LMNA

Fusion gene summary

Fusion gene information	Fusion gene name: SORL1_LMNA
	Fusion gene ID: 35409
		Hgene	Tgene
	Gene symbol	SORL1	LMNA
	Gene ID	6653	4000
	Gene name	sortilin related receptor 1	lamin A/C
	Synonyms	C11orf32\|LR11\|LRP9\|SORLA\|SorLA-1\|gp250	CDCD1\|CDDC\|CMD1A\|CMT2B1\|EMD2\|FPL\|FPLD\|FPLD2\|HGPS\|IDC\|LDP1\|LFP\|LGMD1B\|LMN1\|LMNC\|LMNL1\|MADA\|PRO1
	Cytomap	11q24.1	1q22
	Type of gene	protein-coding	protein-coding
	Description	sortilin-related receptorLDLR relative with 11 ligand-binding repeatslow-density lipoprotein receptor relative with 11 ligand-binding repeatsmosaic protein LR11sortilin-related receptor, L(DLR class) A repeats containingsorting protein-related recept	lamin70 kDa laminlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32
	Modification date	20180527	20180523
	UniProtAcc	Q92673	P02545
	Ensembl transtripts involved in fusion gene	ENST00000260197, ENST00000532451, ENST00000525532, ENST00000532694, ENST00000534286, ENST00000527934,	ENST00000368301, ENST00000361308, ENST00000347559, ENST00000368300, ENST00000368299, ENST00000448611, ENST00000368297, ENST00000473598, ENST00000392353, ENST00000496738,
Fusion gene scores	* DoF score	13 X 10 X 7=910	9 X 11 X 3=297
	# samples	14	11
	** MAII score	log2(14/910*10)=-2.70043971814109 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0	log2(11/297*10)=-1.43295940727611 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0
Context	PubMed: SORL1 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract]
Functional or gene categories assigned by FusionGDB annotation	Transcription factor involved fusion gene, inframe and retained DNA-binding domain.

* 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	SORL1	GO:0006605	protein targeting	16407538
Hgene	SORL1	GO:0006622	protein targeting to lysosome	24523320
Hgene	SORL1	GO:0006892	post-Golgi vesicle-mediated transport	17855360
Hgene	SORL1	GO:0014910	regulation of smooth muscle cell migration	14764453
Hgene	SORL1	GO:0032091	negative regulation of protein binding	16407538
Hgene	SORL1	GO:0034067	protein localization to Golgi apparatus	17855360
Hgene	SORL1	GO:0045053	protein retention in Golgi apparatus	17855360
Hgene	SORL1	GO:0045732	positive regulation of protein catabolic process	24523320
Hgene	SORL1	GO:0051604	protein maturation	17855360
Hgene	SORL1	GO:1902430	negative regulation of amyloid-beta formation	16407538\|22621900
Hgene	SORL1	GO:1902960	negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process	16407538
Tgene	LMNA	GO:0090343	positive regulation of cell aging	20458013

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	RV	LGG	TCGA-TM-A84J-01A	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+

* 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
In-frame	ENST00000260197	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
In-frame	ENST00000260197	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
5CDS-intron	ENST00000260197	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-3CDS	ENST00000532451	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
3UTR-intron	ENST00000532451	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000525532	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-intron	ENST00000525532	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000532694	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-intron	ENST00000532694	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000534286	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-intron	ENST00000534286	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000368301	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000361308	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000347559	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000368300	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000368299	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000448611	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000368297	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000473598	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-3CDS	ENST00000527934	ENST00000392353	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+
intron-intron	ENST00000527934	ENST00000496738	SORL1	chr11	121367758	+	LMNA	chr1	156104194	+

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FusionProtFeatures for SORL1_LMNA

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

Hgene	Tgene
SORL1 Q92673	LMNA P02545

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Fusion gene ID: 35409

FusionGeneSummary for SORL1_LMNA

FusionProtFeatures for SORL1_LMNA