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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: 35412

FusionGeneSummary for SORL1_SC5D

check button Fusion gene summary
Fusion gene informationFusion gene name: SORL1_SC5D
Fusion gene ID: 35412
HgeneTgene
Gene symbol

SORL1

SC5D

Gene ID

6653

6309

Gene namesortilin related receptor 1sterol-C5-desaturase
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250ERG3|S5DES|SC5DL
Cytomap

11q24.1

11q23.3-q24.1

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 receptlathosterol oxidase3beta-hydroxysteroid-delta5-desaturaseC-5 sterol desaturasedelta(7)-sterol 5-desaturasedelta(7)-sterol C5(6)-desaturasefungal ERG3, delta-5-desaturase-likelathosterol 5-desaturaselathosterol dehydrogenasesterol-C5-desaturase (ER
Modification date2018052720180523
UniProtAcc

Q92673

O75845

Ensembl transtripts involved in fusion geneENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
ENST00000264027, ENST00000534230, 
ENST00000392789, ENST00000528991, 
Fusion gene scores* DoF score13 X 10 X 7=9103 X 3 X 3=27
# samples 143
** MAII scorelog2(14/910*10)=-2.70043971814109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SORL1 [Title/Abstract] AND SC5D [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
TCGALDOVTCGA-24-1431-01ASORL1chr11

121393698

+SC5Dchr11

121177766

+
* 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-frameENST00000260197ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
In-frameENST00000260197ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
Frame-shiftENST00000260197ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
5CDS-3UTRENST00000260197ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+
3UTR-3CDSENST00000532451ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
3UTR-3CDSENST00000532451ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
3UTR-3CDSENST00000532451ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
3UTR-3UTRENST00000532451ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000525532ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000525532ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000525532ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3UTRENST00000525532ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000532694ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000532694ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000532694ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3UTRENST00000532694ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000534286ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000534286ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000534286ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3UTRENST00000534286ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000527934ENST00000264027SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000527934ENST00000534230SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3CDSENST00000527934ENST00000392789SORL1chr11

121393698

+SC5Dchr11

121177766

+
intron-3UTRENST00000527934ENST00000528991SORL1chr11

121393698

+SC5Dchr11

121177766

+

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FusionProtFeatures for SORL1_SC5D


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

Q92673

SC5D

O75845

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}. Catalyzes a dehydrogenation to introduce C5-6 doublebond into lathosterol.

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
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+114863_655322215MotifCell attachment site
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148136_1475322215RepeatNote=BNR 1
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148232_2435322215RepeatNote=BNR 2
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148441_4525322215RepeatNote=BNR 3
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148521_5325322215RepeatNote=BNR 4
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+35151_155148300MotifNote=Histidine box-2
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+35228_233148300MotifNote=Histidine box-3
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+35151_155148300MotifNote=Histidine box-2
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+35228_233148300MotifNote=Histidine box-3
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+35186_206148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+35186_206148300TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481026_10725322215DomainNote=EGF-like
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481076_11145322215DomainLDL-receptor class A 1
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481115_11555322215DomainLDL-receptor class A 2
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481156_11945322215DomainLDL-receptor class A 3
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481198_12365322215DomainLDL-receptor class A 4
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481238_12725322215DomainLDL-receptor class A 5
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481273_13175322215DomainLDL-receptor class A 6
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481323_13615322215DomainLDL-receptor class A 7
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481366_14055322215DomainLDL-receptor class A 8
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481417_14555322215DomainLDL-receptor class A 9
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481469_15085322215DomainLDL-receptor class A 10
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481512_15515322215DomainLDL-receptor class A 11
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481557_16495322215DomainFibronectin type-III 1
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481653_17455322215DomainFibronectin type-III 2
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481749_18445322215DomainFibronectin type-III 3
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481843_19275322215DomainFibronectin type-III 4
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11481934_20295322215DomainFibronectin type-III 5
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11482030_21185322215DomainFibronectin type-III 6
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11482172_21775322215MotifEndocytosis signal
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148562_5735322215RepeatNote=BNR 5
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148800_8435322215RepeatNote=LDL-receptor class B 1
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148844_8875322215RepeatNote=LDL-receptor class B 2
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148888_9325322215RepeatNote=LDL-receptor class B 3
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148933_9705322215RepeatNote=LDL-receptor class B 4
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+1148971_10135322215RepeatNote=LDL-receptor class B 5
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11482159_22145322215Topological domainCytoplasmic
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+114882_21375322215Topological domainExtracellular
HgeneSORL1chr11:121393698chr11:121177766ENST00000260197+11482138_21585322215TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+35138_143148300MotifNote=Histidine box-1
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+35138_143148300MotifNote=Histidine box-1
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+35117_137148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+3532_52148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000264027+3579_99148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+35117_137148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+3532_52148300TransmembraneHelical
TgeneSC5Dchr11:121393698chr11:121177766ENST00000392789+3579_99148300TransmembraneHelical


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FusionGeneSequence for SORL1_SC5D


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_121393698_+_SC5D_ENST00000264027_chr11_121177766_+_684aa
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPI
KVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFA
DAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHE
PSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVF
VCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTW
EFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWRERLHKPHHI
WKIPTPFASHAFHPIDGFLQSLPYHIYPFIFPLHKVVYLSLYILVNIWTISIHDGDFRVPQILQPFINGSAHHTDHHMFFDYNYGQYFTL

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_SC5D_ENST00000534230_chr11_121177766_+_613aa
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPI
KVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFA
DAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHE
PSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVHLLGSEQQSSVQLWVSFGRKPMRAAQFVTRHPINEYYIADASEDQVF
VCVSHSNNRTNLYISEAEGLKFSLSLENVLYYSPGGAGSDTLVRYFANEPFADFHRVEGLQGVYIATLINGSMNEENMRSVITFDKGGTW
EFLQAPAFTGYGEKINCELSQGCSLHLAQRLSQLLNLQLRRMPILSKESAPGLIIATGSVGKNLASKTNVYISSSAGARWRERLHKPHHI


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SORL1_ENST00000260197_chr11_121393698_+_SC5D_ENST00000264027_chr11_121177766_+_2052nt
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTC
TGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTG
TGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATC
AAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTG
GCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGAC
AAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCA
GACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTC
CTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACC
TGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAA
CCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTT
CAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTT
GGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAATGAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTT
GTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCAGAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTC
TATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCAAATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTG
CAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAACATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGG
GAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGTGAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGC
CTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAGGAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTG
GGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGAGCCAGGTGGCGAGAGCGCCTACATAAACCTCACCATATT
TGGAAGATTCCTACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGCTTTCTTCAGAGTCTACCTTACCATATATACCCTTTTATC
TTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTGGTTAATATCTGGACAATTTCCATTCATGACGGTGATTTTCGTGTCCCC
CAAATCTTACAGCCATTTATTAATGGCTCAGCTCATCATACAGACCACCATATGTTCTTTGACTATAATTATGGACAATATTTCACTTTG
TGGGATAGGATTGGCGGCTCATTCAAAAATCCTTCATCCTTTGAGGGGAAGGGACCGCTCAGTTATGTGAAGGAGATGACAGAGGGAAAG

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_SC5D_ENST00000534230_chr11_121177766_+_1839nt
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTC
TGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTG
TGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATC
AAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTG
GCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGAC
AAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCA
GACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTC
CTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACC
TGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAA
CCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTT
CAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGCAGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTT
GGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAATGAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTT
GTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCAGAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTC
TATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCAAATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTG
CAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAACATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGG
GAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGTGAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGC
CTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAGGAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTG
GGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGAGCCAGGTGGCGAGAGCGCCTACATAAACCTCACCATATT
TGGAAGATTCCTACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGCTTTCTTCAGAGTCTACCTTACCATATATACCCTTTTATC
TTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTGGTTAATATCTGGACAATTTCCATTCATGACGGAAATGGCTGTAAGAAT


* Fusion transcript sequences (Full-length transcript).
>In-frame_SORL1_ENST00000260197_chr11_121393698_+_SC5D_ENST00000264027_chr11_121177766_+_3363nt
CCCGGAGCGGCGCGGGCGGCCTGGAGCCCCGGGAGCGGCGCGCGCGGTCCCGGCCCAGCGGCTCTCCTGGCCTCGCGCTGCACATTCTCT
CCTGGCGGCGGCGCCACCTGCAGTAGCGTTCGCCCGAACATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACC
CTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGC
TTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTC
CGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTG
CACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTG
TCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTC
TACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTT
CAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCC
AACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCC
TATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGG
GAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGC
AGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAAT
GAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTTGTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCA
GAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTCTATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCA
AATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTGCAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAAC
ATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGGGAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGT
GAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGCCTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAG
GAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTGGGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGA
GCCAGGTGGCGAGAGCGCCTACATAAACCTCACCATATTTGGAAGATTCCTACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGC
TTTCTTCAGAGTCTACCTTACCATATATACCCTTTTATCTTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTGGTTAATATC
TGGACAATTTCCATTCATGACGGTGATTTTCGTGTCCCCCAAATCTTACAGCCATTTATTAATGGCTCAGCTCATCATACAGACCACCAT
ATGTTCTTTGACTATAATTATGGACAATATTTCACTTTGTGGGATAGGATTGGCGGCTCATTCAAAAATCCTTCATCCTTTGAGGGGAAG
GGACCGCTCAGTTATGTGAAGGAGATGACAGAGGGAAAGCGCAGCAGCCATTCAGGAAATGGCTGTAAGAATGAAAAATTATTCAATGGA
GAGTTTACAAAGACTGAATAGATTATTGCCCAGTTATTCTTAAGTAAGGACAAAGAAGGAAATATCATCGTATTTCTTTTTTTTAATAAG
GAAAAAATAATATCCATACAGTCAAGATACATAGTAAATGGTATCATTTGGAAATCAGCATCGTGGGCACTGCTGAGGAATGATCCTAGT
GGTAGGTCAGAAGAAGATGCTGTGAACACCAGGACTTTAATCTTATGCTTAAAATGCCAGATGTTGTTCGGGGGACAACTTGTATCTTTC
TAGCAGCAGATCTGTAGTTTGTATAGCCTCAACAACAATTTTAAATAAGATGGAGAATAAATTATTGAGGGGACTAGGCTATATGCATTT
GCCTTCATCCACCCATGTTTATTAAGAATCATTGTGCTTAATAATACCAAGACTAAGCACCATAACCAAGAAATACTAATGTAAAGATTG
TTTCTTGTTTCAGGAATGGTTAATTCTTCAACGTTGGTATGATAATGATAACTTGTTTTGACTTGAATAAAGTACTACATCAGTGTGGAA
AAAAATTCTGATACATTAGCAGCTATGTAAATGACCTAATTGATAGCAGGTGTAATAAGACTATCGTCTTCCTACACATAGGAGGCTCAT
TCTCTGGACACACTATCACCTATTACATTTTACTGATTAACAAATAAATTGGAATTTAAAAATATCGATATCACCATGATTTAATCCAGA
TCTGGGATTATGTAGCTAAACATTGTGATGATTATTATTTAAAACCATTATTTAATAAGAGTAAAAATATGTGAATCTGGATATATTTAA
AAAAAGAAATTTGATGCCCAGATAATATATTAGGCACTACTGATTTTTTAGTTAAATTGATGCACTACACTTTTGATGTTTGAAGTTACA
AACCTGTAATTTTTTTGTAAAGGAAATAATTGCCAAATACCTAGGCCCATTGCTGACGATTAGTTCTAAAATCTTATTCCTCCTCTTCTC
CCCTCACTTTTCCCTACTTCCTCTGCAAAAAGATTTAACAAATACATTCATAAGGAAATGTGTGTTGTAACAAATATATTGCAAAAACAT
AGTTTGTAAAGGCATTCTATAAGCTATTTATGTAAAATCAATAAAAGTTGATCATAATTAAACTGTATCAGTTGAGTATTATAGCAGCAC

>In-frame_SORL1_ENST00000260197_chr11_121393698_+_SC5D_ENST00000534230_chr11_121177766_+_3086nt
CCCGGAGCGGCGCGGGCGGCCTGGAGCCCCGGGAGCGGCGCGCGCGGTCCCGGCCCAGCGGCTCTCCTGGCCTCGCGCTGCACATTCTCT
CCTGGCGGCGGCGCCACCTGCAGTAGCGTTCGCCCGAACATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACC
CTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGC
TTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTC
CGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTG
CACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTG
TCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTC
TACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTT
CAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCC
AACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCC
TATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGG
GAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGCATCTCTTGGGC
AGTGAACAGCAGTCTTCTGTCCAGCTCTGGGTCTCCTTTGGCCGGAAGCCCATGAGAGCAGCCCAGTTTGTCACAAGACATCCTATTAAT
GAATATTACATCGCAGATGCCTCCGAGGACCAGGTGTTTGTGTGTGTCAGCCACAGTAACAACCGCACCAATTTATACATCTCAGAGGCA
GAGGGGCTGAAGTTCTCCCTGTCCTTGGAGAACGTGCTCTATTACAGCCCAGGAGGGGCCGGCAGTGACACCTTGGTGAGGTATTTTGCA
AATGAACCATTTGCTGACTTCCACCGAGTGGAAGGATTGCAAGGAGTCTACATTGCTACTCTGATTAATGGTTCTATGAATGAGGAGAAC
ATGAGATCGGTCATCACCTTTGACAAAGGGGGAACCTGGGAGTTTCTTCAGGCTCCAGCCTTCACGGGATATGGAGAGAAAATCAATTGT
GAGCTTTCCCAGGGCTGTTCCCTTCATCTGGCTCAGCGCCTCAGTCAGCTCCTCAACCTCCAGCTCCGGAGAATGCCCATCCTGTCCAAG
GAGTCGGCTCCAGGCCTCATCATCGCCACTGGCTCAGTGGGAAAGAACTTGGCTAGCAAGACAAACGTGTACATCTCTAGCAGTGCTGGA
GCCAGGTGGCGAGAGCGCCTACATAAACCTCACCATATTTGGAAGATTCCTACTCCATTTGCAAGTCATGCTTTTCACCCTATTGATGGC
TTTCTTCAGAGTCTACCTTACCATATATACCCTTTTATCTTTCCATTACACAAGGTGGTTTATTTAAGTCTGTACATCTTGGTTAATATC
TGGACAATTTCCATTCATGACGGAAATGGCTGTAAGAATGAAAAATTATTCAATGGAGAGTTTACAAAGACTGAATAGATTATTGCCCAG
TTATTCTTAAGTAAGGACAAAGAAGGAAATATCATCGTATTTCTTTTTTTTAATAAGGAAAAAATAATATCCATACAGTCAAGATACATA
GTAAATGGTATCATTTGGAAATCAGCATCGTGGGCACTGCTGAGGAATGATCCTAGTGGTAGGTCAGAAGAAGATGCTGTGAACACCAGG
ACTTTAATCTTATGCTTAAAATGCCAGATGTTGTTCGGGGGACAACTTGTATCTTTCTAGCAGCAGATCTGTAGTTTGTATAGCCTCAAC
AACAATTTTAAATAAGATGGAGAATAAATTATTGAGGGGACTAGGCTATATGCATTTGCCTTCATCCACCCATGTTTATTAAGAATCATT
GTGCTTAATAATACCAAGACTAAGCACCATAACCAAGAAATACTAATGTAAAGATTGTTTCTTGTTTCAGGAATGGTTAATTCTTCAACG
TTGGTATGATAATGATAACTTGTTTTGACTTGAATAAAGTACTACATCAGTGTGGAAAAAAATTCTGATACATTAGCAGCTATGTAAATG
ACCTAATTGATAGCAGGTGTAATAAGACTATCGTCTTCCTACACATAGGAGGCTCATTCTCTGGACACACTATCACCTATTACATTTTAC
TGATTAACAAATAAATTGGAATTTAAAAATATCGATATCACCATGATTTAATCCAGATCTGGGATTATGTAGCTAAACATTGTGATGATT
ATTATTTAAAACCATTATTTAATAAGAGTAAAAATATGTGAATCTGGATATATTTAAAAAAAGAAATTTGATGCCCAGATAATATATTAG
GCACTACTGATTTTTTAGTTAAATTGATGCACTACACTTTTGATGTTTGAAGTTACAAACCTGTAATTTTTTTGTAAAGGAAATAATTGC
CAAATACCTAGGCCCATTGCTGACGATTAGTTCTAAAATCTTATTCCTCCTCTTCTCCCCTCACTTTTCCCTACTTCCTCTGCAAAAAGA
TTTAACAAATACATTCATAAGGAAATGTGTGTTGTAACAAATATATTGCAAAAACATAGTTTGTAAAGGCATTCTATAAGCTATTTATGT


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FusionGenePPI for SORL1_SC5D


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, CEP97SC5DTSPAN5, TSPAN17, BSCL2, LPAR1, IPPK, VIPR1, TPRA1, SLC22A9, YIPF3, C3AR1, RXFP4, VIPR2


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_SC5D


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_SC5D


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
TgeneSC5DC1846421Lathosterolosis2CTD_human;ORPHANET;UNIPROT
TgeneSC5DC0023895Liver diseases1CTD_human
TgeneSC5DC3714756Intellectual Disability1CTD_human