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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:SORL1-LMNA

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: SORL1-LMNA
FusionPDB ID: 85240
FusionGDB2.0 ID: 85240
HgeneTgene
Gene symbol

SORL1

LMNA

Gene ID

6653

4000

Gene namesortilin related receptor 1lamin A/C
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250CDCD1|CDDC|CMD1A|CMT2B1|EMD2|FPL|FPLD|FPLD2|HGPS|IDC|LDP1|LFP|LGMD1B|LMN1|LMNC|LMNL1|MADA|PRO1
Cytomap

11q24.1

1q22

Type of geneprotein-codingprotein-coding
Descriptionsortilin-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 receptlamin70 kDa laminepididymis secretory sperm binding proteinlamin A/C-like 1mandibuloacral dysplasia type Aprelamin-A/Crenal carcinoma antigen NY-REN-32
Modification date2020032720200329
UniProtAcc.

P02545

Ensembl transtripts involved in fusion geneENST idsENST00000532451, ENST00000260197, 
ENST00000525532, ENST00000527934, 
ENST00000532694, ENST00000534286, 
ENST00000347559, ENST00000361308, 
ENST00000368297, ENST00000368299, 
ENST00000368300, ENST00000368301, 
ENST00000392353, ENST00000448611, 
ENST00000473598, ENST00000496738, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score17 X 17 X 8=231213 X 16 X 6=1248
# samples 2316
** MAII scorelog2(23/2312*10)=-3.3294356315563
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(16/1248*10)=-2.96347412397489
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: SORL1 [Title/Abstract] AND LMNA [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)SORL1(121367758)-LMNA(156104194), # samples:1
Anticipated loss of major functional domain due to fusion event.SORL1-LMNA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SORL1-LMNA seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
SORL1-LMNA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
SORL1-LMNA seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneSORL1

GO:0006605

protein targeting

16407538|21385844|27322061

HgeneSORL1

GO:0006622

protein targeting to lysosome

24523320

HgeneSORL1

GO:0006892

post-Golgi vesicle-mediated transport

17855360

HgeneSORL1

GO:0014910

regulation of smooth muscle cell migration

14764453

HgeneSORL1

GO:0032091

negative regulation of protein binding

16407538

HgeneSORL1

GO:0034067

protein localization to Golgi apparatus

17855360

HgeneSORL1

GO:0038020

insulin receptor recycling

27322061

HgeneSORL1

GO:0045053

protein retention in Golgi apparatus

17855360

HgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

HgeneSORL1

GO:0046628

positive regulation of insulin receptor signaling pathway

27322061

HgeneSORL1

GO:0051604

protein maturation

17855360

HgeneSORL1

GO:1900168

positive regulation of glial cell-derived neurotrophic factor secretion

21994944

HgeneSORL1

GO:1902430

negative regulation of amyloid-beta formation

16407538|22621900

HgeneSORL1

GO:1902960

negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process

16407538

HgeneSORL1

GO:1904179

positive regulation of adipose tissue development

27322061

TgeneLMNA

GO:0090343

positive regulation of cell aging

20458013


check buttonFusion gene breakpoints across SORL1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across LMNA (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4LGGTCGA-TM-A84J-01ASORL1chr11

121367758

-LMNAchr1

156104194

+


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000260197SORL1chr11121367758-ENST00000368301LMNAchr1156104194+23751068662273735
ENST00000260197SORL1chr11121367758-ENST00000361308LMNAchr1156104194+23751068662273735
ENST00000260197SORL1chr11121367758-ENST00000347559LMNAchr1156104194+34411068662459797
ENST00000260197SORL1chr11121367758-ENST00000368300LMNAchr1156104194+35331068662549827
ENST00000260197SORL1chr11121367758-ENST00000368299LMNAchr1156104194+26111068662399777
ENST00000260197SORL1chr11121367758-ENST00000448611LMNAchr1156104194+27901068662615849
ENST00000260197SORL1chr11121367758-ENST00000368297LMNAchr1156104194+23751068662273735
ENST00000260197SORL1chr11121367758-ENST00000473598LMNAchr1156104194+27471068662549827
ENST00000260197SORL1chr11121367758-ENST00000392353LMNAchr1156104194+23751068662273735

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000260197ENST00000368301SORL1chr11121367758-LMNAchr1156104194+0.017392240.9826078
ENST00000260197ENST00000361308SORL1chr11121367758-LMNAchr1156104194+0.017392240.9826078
ENST00000260197ENST00000347559SORL1chr11121367758-LMNAchr1156104194+0.0086925450.99130744
ENST00000260197ENST00000368300SORL1chr11121367758-LMNAchr1156104194+0.0075896150.9924104
ENST00000260197ENST00000368299SORL1chr11121367758-LMNAchr1156104194+0.016391180.9836088
ENST00000260197ENST00000448611SORL1chr11121367758-LMNAchr1156104194+0.0107749420.9892251
ENST00000260197ENST00000368297SORL1chr11121367758-LMNAchr1156104194+0.017392240.9826078
ENST00000260197ENST00000473598SORL1chr11121367758-LMNAchr1156104194+0.0134673630.98653257
ENST00000260197ENST00000392353SORL1chr11121367758-LMNAchr1156104194+0.017392240.9826078

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Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>85240_85240_1_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000347559_length(amino acids)=797AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEGSHCSSSGDPAEYNLRSRTVL

--------------------------------------------------------------

>85240_85240_2_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000361308_length(amino acids)=735AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED

--------------------------------------------------------------

>85240_85240_3_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000368297_length(amino acids)=735AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED

--------------------------------------------------------------

>85240_85240_4_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000368299_length(amino acids)=777AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED

--------------------------------------------------------------

>85240_85240_5_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000368300_length(amino acids)=827AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED
GDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYL

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>85240_85240_6_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000368301_length(amino acids)=735AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED

--------------------------------------------------------------

>85240_85240_7_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000392353_length(amino acids)=735AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED

--------------------------------------------------------------

>85240_85240_8_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000448611_length(amino acids)=849AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED
GDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYL

--------------------------------------------------------------

>85240_85240_9_SORL1-LMNA_SORL1_chr11_121367758_ENST00000260197_LMNA_chr1_156104194_ENST00000473598_length(amino acids)=827AA_BP=334
MASRCTFSPGGGATCSSVRPNMATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGA
SRADEKPLRRKRSAALQPEPIKVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNR
SEAVIAQFYHSPADNKRYIFADAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVK
SFSWGIDPYDKPNTIYIERHEPSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVLEAALGEAKKQLQDEMLRRVDAENRL
QTMKEELDFQKNIYSEELRETKRRHETRLVEIDNGKQREFESRLADALQELRAQHEDQVEQYKKELEKTYSAKLDNARQSAERNSNLVGA
AHEELQQSRIRIDSLSAQLSQLQKQLAAKEAKLRDLEDSLARERDTSRRLLAEKEREMAEMRARMQQQLDEYQELLDIKLALDMEIHAYR
KLLEGEEERLRLSPSPTSQRSRGRASSHSSQTQGGGSVTKKRKLESTESRSSFSQHARTSGRVAVEEVDEEGKFVRLRNKSNEDQSMGNW
QIKRQNGDDPLLTYRFPPKFTLKAGQVVTIWAAGAGATHSPPTDLVWKAQNTWGCGNSLRTALINSTGEEVAMRKLVRSVTVVEDDEDED
GDDLLHHHHGSHCSSSGDPAEYNLRSRTVLCGTCGQPADKASASGSGAQVGGPISSGSSASSVTVTRSYRSVGGSGGGSFGDNLVTRSYL

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr11:121367758/chr1:156104194)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
.LMNA

P02545

FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Lamins are components of the nuclear lamina, a fibrous layer on the nucleoplasmic side of the inner nuclear membrane, which is thought to provide a framework for the nuclear envelope and may also interact with chromatin. Lamin A and C are present in equal amounts in the lamina of mammals. Recruited by DNA repair proteins XRCC4 and IFFO1 to the DNA double-strand breaks (DSBs) to prevent chromosome translocation by immobilizing broken DNA ends (PubMed:31548606). Plays an important role in nuclear assembly, chromatin organization, nuclear membrane and telomere dynamics. Required for normal development of peripheral nervous system and skeletal muscle and for muscle satellite cell proliferation (PubMed:10080180, PubMed:22431096, PubMed:10814726, PubMed:11799477, PubMed:18551513). Required for osteoblastogenesis and bone formation (PubMed:12075506, PubMed:15317753, PubMed:18611980). Also prevents fat infiltration of muscle and bone marrow, helping to maintain the volume and strength of skeletal muscle and bone (PubMed:10587585). Required for cardiac homeostasis (PubMed:10580070, PubMed:12927431, PubMed:18611980, PubMed:23666920). {ECO:0000269|PubMed:10080180, ECO:0000269|PubMed:10580070, ECO:0000269|PubMed:10587585, ECO:0000269|PubMed:10814726, ECO:0000269|PubMed:11799477, ECO:0000269|PubMed:12075506, ECO:0000269|PubMed:12927431, ECO:0000269|PubMed:15317753, ECO:0000269|PubMed:18551513, ECO:0000269|PubMed:18611980, ECO:0000269|PubMed:22431096, ECO:0000269|PubMed:23666920, ECO:0000269|PubMed:31548606}.; FUNCTION: Prelamin-A/C can accelerate smooth muscle cell senescence. It acts to disrupt mitosis and induce DNA damage in vascular smooth muscle cells (VSMCs), leading to mitotic failure, genomic instability, and premature senescence.

check buttonRetention 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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-64863_65313.02215.0MotifCell attachment site
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648136_147313.02215.0RepeatNote=BNR 1
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648232_243313.02215.0RepeatNote=BNR 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000347559111428_545171.0635.0DomainLTD
TgeneLMNAchr11:121367758chr1:156104194ENST00000361308110428_545171.0573.0DomainLTD
TgeneLMNAchr11:121367758chr1:156104194ENST00000368300112428_545171.0665.0DomainLTD
TgeneLMNAchr11:121367758chr1:156104194ENST00000368301413428_545171.0573.0DomainLTD
TgeneLMNAchr11:121367758chr1:156104194ENST00000448611113428_54559.0575.0DomainLTD
TgeneLMNAchr11:121367758chr1:156104194ENST00000347559111417_422171.0635.0MotifNuclear localization signal
TgeneLMNAchr11:121367758chr1:156104194ENST00000361308110417_422171.0573.0MotifNuclear localization signal
TgeneLMNAchr11:121367758chr1:156104194ENST00000368300112417_422171.0665.0MotifNuclear localization signal
TgeneLMNAchr11:121367758chr1:156104194ENST00000368301413417_422171.0573.0MotifNuclear localization signal
TgeneLMNAchr11:121367758chr1:156104194ENST00000448611113417_42259.0575.0MotifNuclear localization signal
TgeneLMNAchr11:121367758chr1:156104194ENST00000347559111219_242171.0635.0RegionNote=Linker 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000347559111243_383171.0635.0RegionNote=Coil 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000347559111384_664171.0635.0RegionNote=Tail
TgeneLMNAchr11:121367758chr1:156104194ENST00000361308110219_242171.0573.0RegionNote=Linker 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000361308110243_383171.0573.0RegionNote=Coil 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000361308110384_664171.0573.0RegionNote=Tail
TgeneLMNAchr11:121367758chr1:156104194ENST00000368300112219_242171.0665.0RegionNote=Linker 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000368300112243_383171.0665.0RegionNote=Coil 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000368300112384_664171.0665.0RegionNote=Tail
TgeneLMNAchr11:121367758chr1:156104194ENST00000368301413219_242171.0573.0RegionNote=Linker 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000368301413243_383171.0573.0RegionNote=Coil 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000368301413384_664171.0573.0RegionNote=Tail
TgeneLMNAchr11:121367758chr1:156104194ENST00000448611113219_24259.0575.0RegionNote=Linker 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000448611113243_38359.0575.0RegionNote=Coil 2
TgeneLMNAchr11:121367758chr1:156104194ENST00000448611113384_66459.0575.0RegionNote=Tail
TgeneLMNAchr11:121367758chr1:156104194ENST0000044861111371_8059.0575.0RegionNote=Linker 1
TgeneLMNAchr11:121367758chr1:156104194ENST0000044861111381_21859.0575.0RegionNote=Coil 1B

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481026_1072313.02215.0DomainNote=EGF-like
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481076_1114313.02215.0DomainLDL-receptor class A 1
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481115_1155313.02215.0DomainLDL-receptor class A 2
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481156_1194313.02215.0DomainLDL-receptor class A 3
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481198_1236313.02215.0DomainLDL-receptor class A 4
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481238_1272313.02215.0DomainLDL-receptor class A 5
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481273_1317313.02215.0DomainLDL-receptor class A 6
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481323_1361313.02215.0DomainLDL-receptor class A 7
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481366_1405313.02215.0DomainLDL-receptor class A 8
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481417_1455313.02215.0DomainLDL-receptor class A 9
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481469_1508313.02215.0DomainLDL-receptor class A 10
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481512_1551313.02215.0DomainLDL-receptor class A 11
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481557_1649313.02215.0DomainFibronectin type-III 1
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481653_1745313.02215.0DomainFibronectin type-III 2
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481749_1844313.02215.0DomainFibronectin type-III 3
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481843_1927313.02215.0DomainFibronectin type-III 4
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6481934_2029313.02215.0DomainFibronectin type-III 5
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6482030_2118313.02215.0DomainFibronectin type-III 6
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6482161_2164313.02215.0MotifPotential nuclear localization signal for the C-terminal fragment generated by PSEN1
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648441_452313.02215.0RepeatNote=BNR 3
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648521_532313.02215.0RepeatNote=BNR 4
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648562_573313.02215.0RepeatNote=BNR 5
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648800_843313.02215.0RepeatNote=LDL-receptor class B 1
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648844_887313.02215.0RepeatNote=LDL-receptor class B 2
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648888_932313.02215.0RepeatNote=LDL-receptor class B 3
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648933_970313.02215.0RepeatNote=LDL-receptor class B 4
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-648971_1013313.02215.0RepeatNote=LDL-receptor class B 5
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6482159_2214313.02215.0Topological domainCytoplasmic
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-64882_2137313.02215.0Topological domainLumenal
HgeneSORL1chr11:121367758chr1:156104194ENST00000260197-6482138_2158313.02215.0TransmembraneHelical
TgeneLMNAchr11:121367758chr1:156104194ENST0000034755911131_387171.0635.0DomainIF rod
TgeneLMNAchr11:121367758chr1:156104194ENST0000036130811031_387171.0573.0DomainIF rod
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830011231_387171.0665.0DomainIF rod
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830141331_387171.0573.0DomainIF rod
TgeneLMNAchr11:121367758chr1:156104194ENST0000044861111331_38759.0575.0DomainIF rod
TgeneLMNAchr11:121367758chr1:156104194ENST000003475591111_33171.0635.0RegionNote=Head
TgeneLMNAchr11:121367758chr1:156104194ENST0000034755911134_70171.0635.0RegionNote=Coil 1A
TgeneLMNAchr11:121367758chr1:156104194ENST0000034755911171_80171.0635.0RegionNote=Linker 1
TgeneLMNAchr11:121367758chr1:156104194ENST0000034755911181_218171.0635.0RegionNote=Coil 1B
TgeneLMNAchr11:121367758chr1:156104194ENST000003613081101_33171.0573.0RegionNote=Head
TgeneLMNAchr11:121367758chr1:156104194ENST0000036130811034_70171.0573.0RegionNote=Coil 1A
TgeneLMNAchr11:121367758chr1:156104194ENST0000036130811071_80171.0573.0RegionNote=Linker 1
TgeneLMNAchr11:121367758chr1:156104194ENST0000036130811081_218171.0573.0RegionNote=Coil 1B
TgeneLMNAchr11:121367758chr1:156104194ENST000003683001121_33171.0665.0RegionNote=Head
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830011234_70171.0665.0RegionNote=Coil 1A
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830011271_80171.0665.0RegionNote=Linker 1
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830011281_218171.0665.0RegionNote=Coil 1B
TgeneLMNAchr11:121367758chr1:156104194ENST000003683014131_33171.0573.0RegionNote=Head
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830141334_70171.0573.0RegionNote=Coil 1A
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830141371_80171.0573.0RegionNote=Linker 1
TgeneLMNAchr11:121367758chr1:156104194ENST0000036830141381_218171.0573.0RegionNote=Coil 1B
TgeneLMNAchr11:121367758chr1:156104194ENST000004486111131_3359.0575.0RegionNote=Head
TgeneLMNAchr11:121367758chr1:156104194ENST0000044861111334_7059.0575.0RegionNote=Coil 1A


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Fusion Protein-Protein Interaction


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
SORL1
LMNA


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneLMNAchr11:121367758chr1:156104194ENST000003475591111_130171.0635.0MLIP
TgeneLMNAchr11:121367758chr1:156104194ENST000003613081101_130171.0573.0MLIP
TgeneLMNAchr11:121367758chr1:156104194ENST000003683001121_130171.0665.0MLIP
TgeneLMNAchr11:121367758chr1:156104194ENST000003683014131_130171.0573.0MLIP
TgeneLMNAchr11:121367758chr1:156104194ENST000004486111131_13059.0575.0MLIP


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Related Drugs to SORL1-LMNA


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

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Related Diseases to SORL1-LMNA


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource