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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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Fusion gene ID: 35415

FusionGeneSummary for SORL1_TBCEL

check button Fusion gene summary
Fusion gene informationFusion gene name: SORL1_TBCEL
Fusion gene ID: 35415
HgeneTgene
Gene symbol

SORL1

TBCEL

Gene ID

6653

219899

Gene namesortilin related receptor 1tubulin folding cofactor E like
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250El|LRRC35
Cytomap

11q24.1

11q23.3

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 recepttubulin-specific chaperone cofactor E-like proteinE-likecatastrophinleucine rich repeat containing 35leucine-rich repeat-containing protein 35tubulin-specific chaperone e-like
Modification date2018052720180525
UniProtAcc

Q92673

Q5QJ74

Ensembl transtripts involved in fusion geneENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
ENST00000529397, ENST00000422003, 
Fusion gene scores* DoF score13 X 10 X 7=9102 X 2 X 2=8
# samples 144
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(4/8*10)=2.32192809488736
Context

PubMed: SORL1 [Title/Abstract] AND TBCEL [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)

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

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:0045053

protein retention in Golgi apparatus

17855360

HgeneSORL1

GO:0045732

positive regulation of protein catabolic process

24523320

HgeneSORL1

GO:0051604

protein maturation

17855360

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


check button 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 typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVOVTCGA-61-2094-01ASORL1chr11

121348952

+TBCELchr11

120957487

+
TCGALDOVTCGA-24-1560-01ASORL1chr11

121498476

+TBCELchr11

120957487

+
TCGALDOVTCGA-24-2297-01ASORL1chr11

121393698

+TBCELchr11

120957487

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

check button 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.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
In-frameENST00000260197ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
Frame-shiftENST00000260197ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
3UTR-3CDSENST00000532451ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
3UTR-3CDSENST00000532451ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000525532ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000525532ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000532694ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000532694ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000534286ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000534286ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000527934ENST00000529397SORL1chr11

121348952

+TBCELchr11

120957487

+
intron-3CDSENST00000527934ENST00000422003SORL1chr11

121348952

+TBCELchr11

120957487

+
Frame-shiftENST00000260197ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000260197ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
intron-3CDSENST00000532451ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
intron-3CDSENST00000532451ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000525532ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000525532ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000532694ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000532694ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000534286ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000534286ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000527934ENST00000529397SORL1chr11

121498476

+TBCELchr11

120957487

+
Frame-shiftENST00000527934ENST00000422003SORL1chr11

121498476

+TBCELchr11

120957487

+
In-frameENST00000260197ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
Frame-shiftENST00000260197ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+
3UTR-3CDSENST00000532451ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
3UTR-3CDSENST00000532451ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000525532ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000525532ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000532694ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000532694ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000534286ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000534286ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000527934ENST00000529397SORL1chr11

121393698

+TBCELchr11

120957487

+
intron-3CDSENST00000527934ENST00000422003SORL1chr11

121393698

+TBCELchr11

120957487

+

Top

FusionProtFeatures for SORL1_TBCEL


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SORL1

Q92673

TBCEL

Q5QJ74

Likely to be a multifunctional endocytic receptor, thatmay be implicated in the uptake of lipoproteins and of proteases.Binds LDL, the major cholesterol-carrying lipoprotein of plasma,and transports it into cells by endocytosis. Binds the receptor-associated protein (RAP). Could play a role in cell-cellinteraction. Involved in APP trafficking to and from the Golgiapparatus. It probably acts as a sorting receptor that protectsAPP from trafficking to late endosome and from processing intoamyloid beta, thereby reducing the burden of amyloidogenic peptideformation. Involved in the regulation of smooth muscle cellsmigration, probably through PLAUR binding and decreasedinternalization. {ECO:0000269|PubMed:14764453,ECO:0000269|PubMed:16174740}. Acts as a regulator of tubulin stability.{ECO:0000269|PubMed:15728251}.

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.
- In-frame and retained protein feature among the 13 regional features.
>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+34863_651762215MotifCell attachment site
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+114863_655322215MotifCell attachment site
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348136_1471762215RepeatNote=BNR 1
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148136_1475322215RepeatNote=BNR 1
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148232_2435322215RepeatNote=BNR 2
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148441_4525322215RepeatNote=BNR 3
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148521_5325322215RepeatNote=BNR 4
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68349_375318425Coiled coilOntology_term=ECO:0000255
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68349_375318425Coiled coilOntology_term=ECO:0000255
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68349_375318425Coiled coilOntology_term=ECO:0000255
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68349_375318425Coiled coilOntology_term=ECO:0000255
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68334_424318425DomainUbiquitin-like
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68334_424318425DomainUbiquitin-like
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68334_424318425DomainUbiquitin-like
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68334_424318425DomainUbiquitin-like

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481026_10721762215DomainNote=EGF-like
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481076_11141762215DomainLDL-receptor class A 1
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481115_11551762215DomainLDL-receptor class A 2
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481156_11941762215DomainLDL-receptor class A 3
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481198_12361762215DomainLDL-receptor class A 4
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481238_12721762215DomainLDL-receptor class A 5
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481273_13171762215DomainLDL-receptor class A 6
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481323_13611762215DomainLDL-receptor class A 7
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481366_14051762215DomainLDL-receptor class A 8
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481417_14551762215DomainLDL-receptor class A 9
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481469_15081762215DomainLDL-receptor class A 10
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481512_15511762215DomainLDL-receptor class A 11
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481557_16491762215DomainFibronectin type-III 1
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481653_17451762215DomainFibronectin type-III 2
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481749_18441762215DomainFibronectin type-III 3
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481843_19271762215DomainFibronectin type-III 4
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3481934_20291762215DomainFibronectin type-III 5
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3482030_21181762215DomainFibronectin type-III 6
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481026_10725322215DomainNote=EGF-like
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481076_11145322215DomainLDL-receptor class A 1
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481115_11555322215DomainLDL-receptor class A 2
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481156_11945322215DomainLDL-receptor class A 3
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481198_12365322215DomainLDL-receptor class A 4
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481238_12725322215DomainLDL-receptor class A 5
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481273_13175322215DomainLDL-receptor class A 6
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481323_13615322215DomainLDL-receptor class A 7
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481366_14055322215DomainLDL-receptor class A 8
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481417_14555322215DomainLDL-receptor class A 9
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481469_15085322215DomainLDL-receptor class A 10
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481512_15515322215DomainLDL-receptor class A 11
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481557_16495322215DomainFibronectin type-III 1
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481653_17455322215DomainFibronectin type-III 2
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481749_18445322215DomainFibronectin type-III 3
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481843_19275322215DomainFibronectin type-III 4
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11481934_20295322215DomainFibronectin type-III 5
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11482030_21185322215DomainFibronectin type-III 6
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3482172_21771762215MotifEndocytosis signal
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11482172_21775322215MotifEndocytosis signal
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348232_2431762215RepeatNote=BNR 2
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348441_4521762215RepeatNote=BNR 3
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348521_5321762215RepeatNote=BNR 4
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348562_5731762215RepeatNote=BNR 5
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348800_8431762215RepeatNote=LDL-receptor class B 1
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348844_8871762215RepeatNote=LDL-receptor class B 2
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348888_9321762215RepeatNote=LDL-receptor class B 3
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348933_9701762215RepeatNote=LDL-receptor class B 4
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+348971_10131762215RepeatNote=LDL-receptor class B 5
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148562_5735322215RepeatNote=BNR 5
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148800_8435322215RepeatNote=LDL-receptor class B 1
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148844_8875322215RepeatNote=LDL-receptor class B 2
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148888_9325322215RepeatNote=LDL-receptor class B 3
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148933_9705322215RepeatNote=LDL-receptor class B 4
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+1148971_10135322215RepeatNote=LDL-receptor class B 5
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3482159_22141762215Topological domainCytoplasmic
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+34882_21371762215Topological domainExtracellular
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11482159_22145322215Topological domainCytoplasmic
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+114882_21375322215Topological domainExtracellular
HgeneSORL1chr11:121348952chr11:120957487ENST00000260197+3482138_21581762215TransmembraneHelical
HgeneSORL1chr11:121393698chr11:120957487ENST00000260197+11482138_21585322215TransmembraneHelical
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68262_303318425DomainNote=LRRCT
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68262_303318425DomainNote=LRRCT
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68262_303318425DomainNote=LRRCT
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68262_303318425DomainNote=LRRCT
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68124_147318425RepeatNote=LRR 3
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68150_172318425RepeatNote=LRR 4
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68173_197318425RepeatNote=LRR 5
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68199_224318425RepeatNote=LRR 6
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+68226_250318425RepeatNote=LRR 7
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+6873_98318425RepeatNote=LRR 1
TgeneTBCELchr11:121348952chr11:120957487ENST00000422003+6899_123318425RepeatNote=LRR 2
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68124_147318425RepeatNote=LRR 3
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68150_172318425RepeatNote=LRR 4
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68173_197318425RepeatNote=LRR 5
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68199_224318425RepeatNote=LRR 6
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+68226_250318425RepeatNote=LRR 7
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+6873_98318425RepeatNote=LRR 1
TgeneTBCELchr11:121348952chr11:120957487ENST00000529397+6899_123318425RepeatNote=LRR 2
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68124_147318425RepeatNote=LRR 3
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68150_172318425RepeatNote=LRR 4
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68173_197318425RepeatNote=LRR 5
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68199_224318425RepeatNote=LRR 6
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+68226_250318425RepeatNote=LRR 7
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+6873_98318425RepeatNote=LRR 1
TgeneTBCELchr11:121393698chr11:120957487ENST00000422003+6899_123318425RepeatNote=LRR 2
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68124_147318425RepeatNote=LRR 3
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68150_172318425RepeatNote=LRR 4
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68173_197318425RepeatNote=LRR 5
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68199_224318425RepeatNote=LRR 6
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+68226_250318425RepeatNote=LRR 7
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+6873_98318425RepeatNote=LRR 1
TgeneTBCELchr11:121393698chr11:120957487ENST00000529397+6899_123318425RepeatNote=LRR 2


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FusionGeneSequence for SORL1_TBCEL


check button 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.
>In-frame_SORL1_ENST00000260197_chr11_121348952_+_TBCEL_ENST00000529397_chr11_120957487_+_282aa
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPI
KVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRVSXT
DHXIWEVGAFGRSGPKTPEQCKSRSPLXRSGGRNEHSSGPNSGRTKETVKNSSTITHKQHASLLFXPXSTLWPRGNEVQLSGIAFLWHXG

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_TBCEL_ENST00000529397_chr11_120957487_+_638aa
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPI
KVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFA
DAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHE
PSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVF
VCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTW
EFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWREVSXTDHXI
WEVGAFGRSGPKTPEQCKSRSPLXRSGGRNEHSSGPNSGRTKETVKNSSTITHKQHASLLFXPXSTLWPRGNEVQLSGIAFLWHXGWRXN


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SORL1_ENST00000260197_chr11_121348952_+_TBCEL_ENST00000529397_chr11_120957487_+_847nt
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTC
TGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTG
TGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATC
AAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTG
GCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGAC
AAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGGTATCATGAACT
GATCACTAAATATGGGAAGTTGGAGCCTTTGGCAGAAGTGGACCTAAGACCCCAGAGCAGTGCAAAAGTAGAAGTCCACTTTAACGATCA
GGTGGAAGAAATGAGCATTCGTCTGGACCAAACAGTGGCAGAACTAAAGAAACAGTTAAAAACTCTAGTACAATTACCCACAAGCAACAT
GCTTCTCTACTATTTTGACCATGAAGCACCCTTTGGCCCAGAGGAAATGAAGTACAGCTCTCGGGCATTGCATTCCTTTGGCATTAGGGA

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_TBCEL_ENST00000529397_chr11_120957487_+_1915nt
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTC
TGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTG
TGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATC
AAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTG
GCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGAC
AAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCA
GACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTC
CTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACC
TGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAA
CCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTT
CAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTT
GGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAATGAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTT
GTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCAGAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTC
TATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCAAATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTG
CAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAACATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGG
GAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGTGAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGC
CTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAGGAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTG
GGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGAGCCAGGTGGCGAGAGGTATCATGAACTGATCACTAAATA
TGGGAAGTTGGAGCCTTTGGCAGAAGTGGACCTAAGACCCCAGAGCAGTGCAAAAGTAGAAGTCCACTTTAACGATCAGGTGGAAGAAAT
GAGCATTCGTCTGGACCAAACAGTGGCAGAACTAAAGAAACAGTTAAAAACTCTAGTACAATTACCCACAAGCAACATGCTTCTCTACTA
TTTTGACCATGAAGCACCCTTTGGCCCAGAGGAAATGAAGTACAGCTCTCGGGCATTGCATTCCTTTGGCATTAGGGATGGAGATAAAAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_SORL1_ENST00000260197_chr11_121348952_+_TBCEL_ENST00000529397_chr11_120957487_+_976nt
CCCGGAGCGGCGCGGGCGGCCTGGAGCCCCGGGAGCGGCGCGCGCGGTCCCGGCCCAGCGGCTCTCCTGGCCTCGCGCTGCACATTCTCT
CCTGGCGGCGGCGCCACCTGCAGTAGCGTTCGCCCGAACATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACC
CTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGC
TTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTC
CGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTG
CACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTG
TCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTC
TACCACAGCCCTGCGGACAACAAGCGGGTATCATGAACTGATCACTAAATATGGGAAGTTGGAGCCTTTGGCAGAAGTGGACCTAAGACC
CCAGAGCAGTGCAAAAGTAGAAGTCCACTTTAACGATCAGGTGGAAGAAATGAGCATTCGTCTGGACCAAACAGTGGCAGAACTAAAGAA
ACAGTTAAAAACTCTAGTACAATTACCCACAAGCAACATGCTTCTCTACTATTTTGACCATGAAGCACCCTTTGGCCCAGAGGAAATGAA

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_TBCEL_ENST00000529397_chr11_120957487_+_2044nt
CCCGGAGCGGCGCGGGCGGCCTGGAGCCCCGGGAGCGGCGCGCGCGGTCCCGGCCCAGCGGCTCTCCTGGCCTCGCGCTGCACATTCTCT
CCTGGCGGCGGCGCCACCTGCAGTAGCGTTCGCCCGAACATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACC
CTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGC
TTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTC
CGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTG
CACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTG
TCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTC
TACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTT
CAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCC
AACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCC
TATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGG
GAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGC
AGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAAT
GAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTTGTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCA
GAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTCTATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCA
AATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTGCAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAAC
ATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGGGAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGT
GAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGCCTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAG
GAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTGGGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGA
GCCAGGTGGCGAGAGGTATCATGAACTGATCACTAAATATGGGAAGTTGGAGCCTTTGGCAGAAGTGGACCTAAGACCCCAGAGCAGTGC
AAAAGTAGAAGTCCACTTTAACGATCAGGTGGAAGAAATGAGCATTCGTCTGGACCAAACAGTGGCAGAACTAAAGAAACAGTTAAAAAC
TCTAGTACAATTACCCACAAGCAACATGCTTCTCTACTATTTTGACCATGAAGCACCCTTTGGCCCAGAGGAAATGAAGTACAGCTCTCG


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FusionGenePPI for SORL1_TBCEL


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 (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors
SORL1LRPAP1, GGA1, GGA2, PPP1CA, CUL1, COPS5, COPS6, FBXO6, CFTR, DYRK3, POP1, AURKA, APP, PACS1, FAM76B, HLA-DPA1, RSPO1, LGALS8, FGL1, LGALS9, DLD, FOSL2, WISP3, SP6, ZFP41, FOXI2, ZNF354C, TYW3, ZNF563, ZNF224, ZNF408, ZNF331, EGFL6, ZNF169, FAM19A3, OS9, ZBBX, ZNF517, ZNF264, PSG1, SREBF1, MDK, SCGB1D1, ZNF816, FAM19A4, SOST, CDHR5, ZNF549, GCNT3, CEP97TBCELMEOX2, LNX1, DCTN1


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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RelatedDrugs for SORL1_TBCEL


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for SORL1_TBCEL


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneSORL1C0008370Cholestasis1CTD_human
HgeneSORL1C0027626Neoplasm Invasiveness1CTD_human
HgeneSORL1C4277682Chemical and Drug Induced Liver Injury1CTD_human