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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: 35404

FusionGeneSummary for SORL1_CEP164

check button Fusion gene summary
Fusion gene informationFusion gene name: SORL1_CEP164
Fusion gene ID: 35404
HgeneTgene
Gene symbol

SORL1

CEP164

Gene ID

6653

22897

Gene namesortilin related receptor 1centrosomal protein 164
SynonymsC11orf32|LR11|LRP9|SORLA|SorLA-1|gp250NPHP15
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 receptcentrosomal protein of 164 kDacentrosomal protein 164kDa
Modification date2018052720180523
UniProtAcc

Q92673

Q9UPV0

Ensembl transtripts involved in fusion geneENST00000260197, ENST00000532451, 
ENST00000525532, ENST00000532694, 
ENST00000534286, ENST00000527934, 
ENST00000278935, ENST00000533706, 
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 CEP164 [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-VG-A8LO-01ASORL1chr11

121367758

+CEP164chr11

117251330

+
* 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-frameENST00000260197ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
5CDS-3UTRENST00000260197ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+
3UTR-3CDSENST00000532451ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
3UTR-3UTRENST00000532451ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3CDSENST00000525532ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3UTRENST00000525532ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3CDSENST00000532694ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3UTRENST00000532694ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3CDSENST00000534286ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3UTRENST00000534286ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3CDSENST00000527934ENST00000278935SORL1chr11

121367758

+CEP164chr11

117251330

+
intron-3UTRENST00000527934ENST00000533706SORL1chr11

121367758

+CEP164chr11

117251330

+

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FusionProtFeatures for SORL1_CEP164


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

Q92673

CEP164

Q9UPV0

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}. Plays a role in microtubule organization and/ormaintenance for the formation of primary cilia (PC), amicrotubule-based structure that protrudes from the surface ofepithelial cells. Plays a critical role in G2/M checkpoint andnuclear divisions. A key player in the DNA damage-activatedATR/ATM signaling cascade since it is required for the properphosphorylation of H2AX, RPA, CHEK2 and CHEK1. Plays a criticalrole in chromosome segregation, acting as a mediator required forthe maintenance of genomic stability through modulation of MDC1,RPA and CHEK1. {ECO:0000269|PubMed:17954613,ECO:0000269|PubMed:18283122, ECO:0000269|PubMed:23348840}.

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
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+64863_653132215MotifCell attachment site
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648136_1473132215RepeatNote=BNR 1
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648232_2433132215RepeatNote=BNR 2
TgeneCEP164chr11:121367758chr11:117251330ENST00000278935+10331154_12064391461Coiled coilOntology_term=ECO:0000255
TgeneCEP164chr11:121367758chr11:117251330ENST00000278935+1033468_9554391461Compositional biasNote=Glu-rich

- In-frame and not-retained protein feature among the 13 regional features.
>>>>>>>>>>>>>>>>>>>>>>>>>>>>>>
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481026_10723132215DomainNote=EGF-like
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481076_11143132215DomainLDL-receptor class A 1
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481115_11553132215DomainLDL-receptor class A 2
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481156_11943132215DomainLDL-receptor class A 3
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481198_12363132215DomainLDL-receptor class A 4
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481238_12723132215DomainLDL-receptor class A 5
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481273_13173132215DomainLDL-receptor class A 6
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481323_13613132215DomainLDL-receptor class A 7
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481366_14053132215DomainLDL-receptor class A 8
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481417_14553132215DomainLDL-receptor class A 9
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481469_15083132215DomainLDL-receptor class A 10
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481512_15513132215DomainLDL-receptor class A 11
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481557_16493132215DomainFibronectin type-III 1
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481653_17453132215DomainFibronectin type-III 2
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481749_18443132215DomainFibronectin type-III 3
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481843_19273132215DomainFibronectin type-III 4
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6481934_20293132215DomainFibronectin type-III 5
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6482030_21183132215DomainFibronectin type-III 6
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6482172_21773132215MotifEndocytosis signal
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648441_4523132215RepeatNote=BNR 3
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648521_5323132215RepeatNote=BNR 4
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648562_5733132215RepeatNote=BNR 5
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648800_8433132215RepeatNote=LDL-receptor class B 1
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648844_8873132215RepeatNote=LDL-receptor class B 2
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648888_9323132215RepeatNote=LDL-receptor class B 3
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648933_9703132215RepeatNote=LDL-receptor class B 4
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+648971_10133132215RepeatNote=LDL-receptor class B 5
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6482159_22143132215Topological domainCytoplasmic
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+64882_21373132215Topological domainExtracellular
HgeneSORL1chr11:121367758chr11:117251330ENST00000260197+6482138_21583132215TransmembraneHelical
TgeneCEP164chr11:121367758chr11:117251330ENST00000278935+1033110_1224391461Compositional biasNote=Lys-rich
TgeneCEP164chr11:121367758chr11:117251330ENST00000278935+103356_894391461DomainWW


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FusionGeneSequence for SORL1_CEP164


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_121367758_+_CEP164_ENST00000278935_chr11_117251330_+_1335aa
MATRSSRRESRLPFLFTLVALLPPGALCEVWTQRLHGGSAPLPQDRGFLVVQGDPRELRLWARGDARGASRADEKPLRRKRSAALQPEPI
KVYGQVSLNDSHNQMVVHWAGEKSNVIVALARDSLALARPKSSDVYVSYDYGKSFKKISDKLNFGLGNRSEAVIAQFYHSPADNKRYIFA
DAYAQYLWITFDFCNTLQGFSIPFRAADLLLHSKASNLLLGFDRSHPNKQLWKSDDFGQTWIMIQEHVKSFSWGIDPYDKPNTIYIERHE
PSGYSTVFRSTDFFQSRENQEVILEEVRDFQLRDKYMFATKVVAQQPLGIEDKDDSQSSQDELQSKQSKGLEERLSPPLPHEERAQSPPR
SLATEEEPPQGPEGQPEWKEAEELGEDSAASLSLQLSLQREQAPSPPAACEKGKEQHSQAEELGPGQEEAEDPEEKVAVSPTPPVSPEVR
STEPVAPPEQLSEAALKAMEEAVAQVLEQDQRHLLESKQEKMQQLREKLCQEEEEEILRLHQQKEQSLSSLRERLQKAIEEEEARMREEE
SQRLSWLRAQVQSSTQADEDQIRAEQEASLQKLREELESQQKAERASLEQKNRQMLEQLKEEIEASEKSEQAALNAAKEKALQQLREQLE
GERKEAVATLEKEHSAELERLCSSLEAKHREVVSSLQKKIQEAQQKEEAQLQKCLGQVEHRVHQKSYHVAGYEHELSSLLREKRQEVEGE
HERRLDKMKEEHQQVMAKAREQYEAEERKQRAELLGHLTGELERLQRAHERELETVRQEQHKRLEDLRRRHREQERKLQDLELDLETRAK
DVKARLALLEVQEETARREKQQLLDVQRQVALKSEEATATHQQLEEAQKEHTHLLQSNQQLREILDELQARKLKLESQVDLLQAQSQQLQ
KHFSSLEAEAQKKQHLLREVTVEENNASPHFEPDLHIEDLRKSLGTNQTKEVSSSLSQSKEDLYLDSLSSHNVWHLLSAEGVALRSAKEF
LVQQTRSMRRRQTALKAAQQHWRHELASAQEVAKDPPGIKALEDMRKNLEKETRHLDEMKSAMRKGHNLLKKKEEKLNQLESSLWEEASD
EGTLGGSPTKKAVTFDLSDMDSLSSESSESFSPPHREWWRQQRIDSTPSLTSRKIHGLSHSLRQISSQLSSVLSILDSLNPQSPPPLLAS
MPAQLPPRDPKSTPTPTYYGSLARFSALSSATPTSTQWAWDSGQGPRLPSSVAQTVDDFLLEKWRKYFPSGIPLLSNSPTPLESRLGYMS


* Fusion transcript sequences (only coding sequence (CDS) region).
>In-frame_SORL1_ENST00000260197_chr11_121367758_+_CEP164_ENST00000278935_chr11_117251330_+_4005nt
ATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACCCTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTC
TGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGCTTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTG
TGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTCCGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATC
AAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTGCACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTG
GCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTGTCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGAC
AAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTCTACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCA
GACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTTCAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTC
CTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCCAACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACC
TGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCCTATGACAAACCAAATACCATCTACATTGAACGACATGAA
CCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGGGAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTT
CAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGGCCCAGCAACCACTGGGAATAGAAGACAAGGATGACAGCCAGTCCAGCCAA
GATGAGCTGCAGAGCAAGCAGTCCAAAGGCCTGGAGGAGAGGTTATCTCCTCCACTTCCACACGAGGAGCGGGCCCAGAGTCCCCCTCGC
AGCCTGGCCACTGAAGAAGAGCCTCCCCAGGGCCCCGAGGGGCAGCCCGAGTGGAAGGAGGCAGAGGAGCTTGGGGAGGACTCTGCAGCC
AGCCTCAGCCTGCAGCTGTCCCTCCAGAGGGAGCAGGCCCCAAGCCCACCTGCTGCCTGTGAGAAGGGCAAGGAGCAGCATTCCCAGGCC
GAGGAGCTGGGCCCTGGGCAGGAAGAGGCAGAGGATCCTGAGGAGAAGGTGGCGGTCAGCCCCACCCCGCCAGTCTCTCCAGAGGTGCGA
TCCACAGAGCCTGTGGCTCCCCCAGAGCAGCTCTCAGAGGCTGCACTAAAGGCCATGGAAGAGGCAGTGGCCCAAGTACTCGAGCAAGAC
CAGAGGCACCTGCTGGAATCCAAGCAAGAGAAGATGCAGCAACTGCGGGAGAAGCTGTGCCAAGAGGAGGAAGAGGAGATCCTCCGGCTT
CACCAGCAGAAAGAGCAATCTCTCAGTTCCTTGAGGGAGCGGCTGCAGAAAGCCATTGAGGAGGAGGAGGCCCGGATGAGAGAGGAGGAA
AGCCAGAGGCTATCCTGGCTCCGAGCTCAGGTCCAGTCCAGCACACAAGCAGATGAGGACCAAATCAGGGCTGAGCAAGAGGCTTCCCTG
CAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGCTTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAG
GAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCAAAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAA
GGGGAGAGGAAAGAAGCTGTGGCAACGCTGGAGAAGGAGCACAGTGCTGAGCTGGAGCGGCTCTGCTCCTCATTGGAGGCCAAGCACCGG
GAGGTGGTCTCCAGCCTCCAGAAGAAGATACAGGAAGCTCAACAGAAAGAGGAGGCCCAGCTGCAGAAGTGCCTTGGGCAAGTGGAGCAC
AGAGTTCACCAGAAGTCTTATCACGTGGCTGGGTATGAGCACGAGCTCAGCAGTCTCCTGCGAGAGAAGCGCCAGGAAGTGGAAGGGGAG
CATGAGAGGAGGTTGGACAAGATGAAGGAGGAGCACCAGCAAGTGATGGCTAAGGCCAGAGAGCAGTATGAAGCTGAGGAGAGGAAGCAG
CGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGGGCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAA
CACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGAAAGGAAGCTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAA
GATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGAGGAGACCGCCCGGAGGGAGAAGCAGCAGCTGCTTGATGTGCAGAGGCAGGTT
GCTCTGAAGAGTGAGGAAGCCACAGCCACCCATCAGCAGCTGGAGGAGGCACAGAAGGAGCACACCCACCTGTTGCAGTCAAACCAGCAG
CTCCGAGAAATTCTTGATGAGCTGCAGGCCCGCAAGCTGAAGCTGGAGTCCCAAGTGGATCTGCTGCAGGCTCAGAGCCAGCAACTGCAG
AAACACTTCAGCAGCCTGGAGGCTGAAGCTCAAAAGAAGCAGCACCTGTTGAGAGAAGTGACAGTTGAGGAAAATAATGCTTCCCCACAT
TTTGAGCCAGATCTCCATATTGAGGACCTGAGGAAATCCCTTGGAACAAACCAGACCAAAGAGGTGTCTTCTTCTCTCTCCCAGAGCAAG
GAGGACTTATACTTGGACAGCCTGTCCTCCCACAATGTCTGGCACCTCCTCTCTGCTGAGGGGGTAGCCCTCCGTAGTGCCAAGGAGTTC
CTTGTGCAGCAGACACGCTCCATGCGGAGGCGGCAGACAGCTCTGAAAGCTGCCCAGCAGCATTGGCGCCATGAGCTGGCCAGTGCGCAG
GAGGTGGCCAAAGACCCACCAGGCATCAAGGCCCTGGAAGATATGCGCAAGAACCTGGAGAAGGAGACCAGGCACCTGGATGAGATGAAG
TCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTGAATCAGTTGGAGTCCTCTCTTTGGGAAGAGGCCTCAGAT
GAGGGCACTCTGGGAGGATCCCCCACCAAGAAGGCAGTAACCTTCGACCTCAGTGACATGGACAGCCTGAGCAGTGAAAGTTCTGAATCT
TTTTCCCCGCCTCACCGTGAGTGGTGGCGGCAGCAGAGGATCGACTCAACCCCGAGTCTCACCTCCCGCAAGATCCACGGGCTTAGCCAC
TCCCTCCGGCAGATCAGCAGCCAGCTGAGCAGTGTCCTCAGCATCCTGGACAGCCTCAACCCTCAGTCGCCGCCGCCGCTCCTCGCCTCC
ATGCCAGCCCAGCTCCCTCCCCGGGACCCTAAGAGCACCCCCACCCCCACCTACTATGGCTCCCTGGCCAGGTTCTCAGCCTTATCATCT
GCTACACCCACGTCCACCCAATGGGCCTGGGATTCAGGGCAGGGGCCCAGGCTCCCCTCCTCTGTGGCTCAAACGGTGGACGACTTCCTG
TTGGAGAAGTGGCGCAAGTATTTTCCATCTGGCATCCCGCTGCTCAGCAACAGCCCCACCCCGCTGGAGAGCAGGCTGGGTTACATGTCT
GCCAGTGAGCAGCTCCGGCTCCTACAGCACTCCCATTCGCAAGTCCCTGAGGCGGGCAGCACCACCTTTCAGGGCATAATTGAGGCCAAC
CGGAGGTGGCTGGAACGTGTCAAGAATGACCCCAGGTTACCTCTCTTCTCGTCAACACCCAAGCCAAAAGCTACTTTGAGCCTCCTGCAG


* Fusion transcript sequences (Full-length transcript).
>In-frame_SORL1_ENST00000260197_chr11_121367758_+_CEP164_ENST00000278935_chr11_117251330_+_5234nt
CCCGGAGCGGCGCGGGCGGCCTGGAGCCCCGGGAGCGGCGCGCGCGGTCCCGGCCCAGCGGCTCTCCTGGCCTCGCGCTGCACATTCTCT
CCTGGCGGCGGCGCCACCTGCAGTAGCGTTCGCCCGAACATGGCGACACGGAGCAGCAGGAGGGAGTCGCGACTCCCGTTCCTATTCACC
CTGGTCGCACTGCTGCCGCCCGGAGCTCTCTGCGAAGTCTGGACGCAGAGGCTGCACGGCGGCAGCGCGCCCTTGCCCCAGGACCGGGGC
TTCCTCGTGGTGCAGGGCGACCCGCGCGAGCTGCGGCTGTGGGCGCGCGGGGATGCCAGGGGGGCGAGCCGCGCGGACGAGAAGCCGCTC
CGGAGGAAACGGAGCGCTGCCCTGCAGCCCGAGCCCATCAAGGTGTACGGACAGGTTAGTCTGAATGATTCCCACAATCAGATGGTGGTG
CACTGGGCTGGAGAGAAAAGCAACGTGATCGTGGCCTTGGCCCGAGATAGCCTGGCATTGGCGAGGCCCAAGAGCAGTGATGTGTACGTG
TCTTACGACTATGGAAAATCATTCAAGAAAATTTCAGACAAGTTAAACTTTGGCTTGGGAAATAGGAGTGAAGCTGTTATCGCCCAGTTC
TACCACAGCCCTGCGGACAACAAGCGGTACATCTTTGCAGACGCTTATGCCCAGTACCTCTGGATCACGTTTGACTTCTGCAACACTCTT
CAAGGCTTTTCCATCCCATTTCGGGCAGCTGATCTCCTCCTACACAGTAAGGCCTCCAACCTTCTCTTGGGCTTTGACAGGTCCCACCCC
AACAAGCAGCTGTGGAAGTCAGATGACTTTGGCCAGACCTGGATCATGATTCAGGAACATGTCAAGTCCTTTTCTTGGGGAATTGATCCC
TATGACAAACCAAATACCATCTACATTGAACGACATGAACCCTCTGGCTACTCCACTGTCTTCCGAAGTACAGATTTCTTCCAGTCCCGG
GAAAACCAGGAAGTGATCCTTGAGGAAGTGAGAGATTTTCAGCTTCGGGACAAGTACATGTTTGCTACAAAGGTGGTGGCCCAGCAACCA
CTGGGAATAGAAGACAAGGATGACAGCCAGTCCAGCCAAGATGAGCTGCAGAGCAAGCAGTCCAAAGGCCTGGAGGAGAGGTTATCTCCT
CCACTTCCACACGAGGAGCGGGCCCAGAGTCCCCCTCGCAGCCTGGCCACTGAAGAAGAGCCTCCCCAGGGCCCCGAGGGGCAGCCCGAG
TGGAAGGAGGCAGAGGAGCTTGGGGAGGACTCTGCAGCCAGCCTCAGCCTGCAGCTGTCCCTCCAGAGGGAGCAGGCCCCAAGCCCACCT
GCTGCCTGTGAGAAGGGCAAGGAGCAGCATTCCCAGGCCGAGGAGCTGGGCCCTGGGCAGGAAGAGGCAGAGGATCCTGAGGAGAAGGTG
GCGGTCAGCCCCACCCCGCCAGTCTCTCCAGAGGTGCGATCCACAGAGCCTGTGGCTCCCCCAGAGCAGCTCTCAGAGGCTGCACTAAAG
GCCATGGAAGAGGCAGTGGCCCAAGTACTCGAGCAAGACCAGAGGCACCTGCTGGAATCCAAGCAAGAGAAGATGCAGCAACTGCGGGAG
AAGCTGTGCCAAGAGGAGGAAGAGGAGATCCTCCGGCTTCACCAGCAGAAAGAGCAATCTCTCAGTTCCTTGAGGGAGCGGCTGCAGAAA
GCCATTGAGGAGGAGGAGGCCCGGATGAGAGAGGAGGAAAGCCAGAGGCTATCCTGGCTCCGAGCTCAGGTCCAGTCCAGCACACAAGCA
GATGAGGACCAAATCAGGGCTGAGCAAGAGGCTTCCCTGCAGAAACTGAGAGAAGAGTTGGAGTCTCAACAGAAGGCTGAGAGGGCCAGC
TTGGAACAGAAAAATAGGCAAATGCTGGAGCAGCTCAAGGAAGAGATAGAGGCTTCGGAGAAGAGCGAGCAGGCTGCCCTGAATGCTGCA
AAGGAGAAGGCTCTGCAGCAGCTGAGGGAGCAGCTGGAAGGGGAGAGGAAAGAAGCTGTGGCAACGCTGGAGAAGGAGCACAGTGCTGAG
CTGGAGCGGCTCTGCTCCTCATTGGAGGCCAAGCACCGGGAGGTGGTCTCCAGCCTCCAGAAGAAGATACAGGAAGCTCAACAGAAAGAG
GAGGCCCAGCTGCAGAAGTGCCTTGGGCAAGTGGAGCACAGAGTTCACCAGAAGTCTTATCACGTGGCTGGGTATGAGCACGAGCTCAGC
AGTCTCCTGCGAGAGAAGCGCCAGGAAGTGGAAGGGGAGCATGAGAGGAGGTTGGACAAGATGAAGGAGGAGCACCAGCAAGTGATGGCT
AAGGCCAGAGAGCAGTATGAAGCTGAGGAGAGGAAGCAGCGGGCTGAGCTTCTGGGGCACCTGACCGGAGAGCTGGAGCGCCTGCAGAGG
GCCCATGAACGAGAACTGGAGACTGTGAGGCAGGAGCAACACAAGCGTCTTGAGGACTTGCGGCGCCGGCACAGGGAGCAGGAAAGGAAG
CTCCAGGATTTAGAGTTGGACCTTGAAACCAGAGCTAAAGATGTCAAGGCCAGATTGGCTCTGCTGGAGGTCCAGGAGGAGACCGCCCGG
AGGGAGAAGCAGCAGCTGCTTGATGTGCAGAGGCAGGTTGCTCTGAAGAGTGAGGAAGCCACAGCCACCCATCAGCAGCTGGAGGAGGCA
CAGAAGGAGCACACCCACCTGTTGCAGTCAAACCAGCAGCTCCGAGAAATTCTTGATGAGCTGCAGGCCCGCAAGCTGAAGCTGGAGTCC
CAAGTGGATCTGCTGCAGGCTCAGAGCCAGCAACTGCAGAAACACTTCAGCAGCCTGGAGGCTGAAGCTCAAAAGAAGCAGCACCTGTTG
AGAGAAGTGACAGTTGAGGAAAATAATGCTTCCCCACATTTTGAGCCAGATCTCCATATTGAGGACCTGAGGAAATCCCTTGGAACAAAC
CAGACCAAAGAGGTGTCTTCTTCTCTCTCCCAGAGCAAGGAGGACTTATACTTGGACAGCCTGTCCTCCCACAATGTCTGGCACCTCCTC
TCTGCTGAGGGGGTAGCCCTCCGTAGTGCCAAGGAGTTCCTTGTGCAGCAGACACGCTCCATGCGGAGGCGGCAGACAGCTCTGAAAGCT
GCCCAGCAGCATTGGCGCCATGAGCTGGCCAGTGCGCAGGAGGTGGCCAAAGACCCACCAGGCATCAAGGCCCTGGAAGATATGCGCAAG
AACCTGGAGAAGGAGACCAGGCACCTGGATGAGATGAAGTCGGCCATGCGGAAAGGCCACAACCTGCTGAAGAAGAAAGAGGAGAAGCTG
AATCAGTTGGAGTCCTCTCTTTGGGAAGAGGCCTCAGATGAGGGCACTCTGGGAGGATCCCCCACCAAGAAGGCAGTAACCTTCGACCTC
AGTGACATGGACAGCCTGAGCAGTGAAAGTTCTGAATCTTTTTCCCCGCCTCACCGTGAGTGGTGGCGGCAGCAGAGGATCGACTCAACC
CCGAGTCTCACCTCCCGCAAGATCCACGGGCTTAGCCACTCCCTCCGGCAGATCAGCAGCCAGCTGAGCAGTGTCCTCAGCATCCTGGAC
AGCCTCAACCCTCAGTCGCCGCCGCCGCTCCTCGCCTCCATGCCAGCCCAGCTCCCTCCCCGGGACCCTAAGAGCACCCCCACCCCCACC
TACTATGGCTCCCTGGCCAGGTTCTCAGCCTTATCATCTGCTACACCCACGTCCACCCAATGGGCCTGGGATTCAGGGCAGGGGCCCAGG
CTCCCCTCCTCTGTGGCTCAAACGGTGGACGACTTCCTGTTGGAGAAGTGGCGCAAGTATTTTCCATCTGGCATCCCGCTGCTCAGCAAC
AGCCCCACCCCGCTGGAGAGCAGGCTGGGTTACATGTCTGCCAGTGAGCAGCTCCGGCTCCTACAGCACTCCCATTCGCAAGTCCCTGAG
GCGGGCAGCACCACCTTTCAGGGCATAATTGAGGCCAACCGGAGGTGGCTGGAACGTGTCAAGAATGACCCCAGGTTACCTCTCTTCTCG
TCAACACCCAAGCCAAAAGCTACTTTGAGCCTCCTGCAGCTGGGCCTTGATGAGCACAACAGAGTGAAGGTGTATCGCTTCTGAGGCCCT
GAGCAGGGGCTTGGGGCAGCCCAGCCTCTCCTCCACCCAGACCAAGTGCCTGAGGAGCTGCCTGCCTTCTTCCATCTGAGAAAGCACCCT
CCTTCCCCCTTTGACTTGCAGGAGCCACCAGGGACCAGGGGGTTGAGTGGAACAGTAAAGCCACACATTCTGTGACTATATAACCTATCT
CAGGCTAAAATGTGTGGACTCGTACGAGCTCTTGTCATTGACATGGCAAGCTGATGGCGTGCGGTGGCTGCGGGGTATCAGGGCCGGGAG
CCCTTTGGGAGGAAGGGAGGCGTTAGAGGAGCTGCCTTCGGAGGCTCAGGGAGTCCCTTTGGAGCTGGTTGTTTCCTTGGCCCTGCAGCG
CACTGCTCGGGGCTCCCAAGGAGGTTGTGTGTATGGTTCTTAATTCATCAGGACAAAGACCCCCAGCATGTGTGTACCCTGGGACCCGAT
TTCTCTGGGCCCACATCTATCTCCAATACCTCAGCCTCAGATCAGACCCTTTCTTTTTTGTCTTTCTTCTCTTAATTTTTAAATGCCTCT
TTTCTTGAGCATTCCATCTCTCTTTTTGACCCTCTCAGGACTGGGCTTAGCTGTCCAGAGCCCTGCCGGAGGGTGCTGGGGGCTGTCCCT
CTGCAGGCACTGTGTTTTCCTCAGGGGCTGTCCTCAGAACACCCCTCCTGCTCCCTGGGGCTCCTCAGGGAGCCATTTCAGCTGGAGTCT
CAGGTCTCAAAAACAACTTCTCCAGGAGGCCAAAAAAAGACTGGGTTGGCTTCTGGTCCTCATGATGGCTTTTATCCTCCTGGGACACTT
TGGGTATATTCATGGGCATTGTTTCCATCTGTCTTTTCTACCTGTGCCACCCCTGCCCTGATTCCACGGCTGCCTCAGGCAGGCAGGCAA
GGAGCTAGGCCGGTGCCCGGCCCTGGCAGCAAGGGGTCTTTGTGCAGTTGGAGATGCTGCCGTTGTGGCAGAGCGTCCTGCAGCCCCGCT
TCCATCAGCAGGCTCTGGGGTGGGGGCTTTGCAGGGGATGCTCTCTGATGTTTGTTCCGTTGTTTAAATAAAATGCACTTATTTTTGTTT


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FusionGenePPI for SORL1_CEP164


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, CEP97CEP164ATR, ATRIP, ELAVL1, UBC, CCDC92, TTBK2, NPHP3, NPHP1, INVS, NPHP4, DVL3, MAPK14, SHMT2, MOV10, LIPH, OFD1, PCM1, CEP128, BTF3, C1orf131, CAPN1, CEBPZ, CTSB, DDX24, DDX47, DNAJB6, EBNA1BP2, GLUD2, IDH3B, LONP1, MTPN, NMD3, NSUN2, PDS5B, PEF1, PPM1F, RBFOX2, RFC2, RPP38, SENP3, SRSF2, SSR3, STX8, WDR3, YY1, AATF, C17orf85, CSRP2, DBT, DDX23, DDX56, ECH1, GPX1, NKRF, NOL11, NUP205, NVL, PDCD11, RPF2, SRSF10, SSRP1, SUPT16H, TBL3, TIMM23B, TOP2B, TRA2B, USP36, VN1R5, ZNF326, CEP89, NIN, NHP2L1, RNASEH2B, LDHD, CDC16, NCAPH2, RFWD2, FAM19A3, RALBP1, THSD4, CRYL1, CELA1, SYCE3, BBS7


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
TgeneCEP164chr11:121367758chr11:117251330ENST00000278935+10331_1944391461ATRIP


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_CEP164


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_CEP164


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
TgeneCEP164C3541853NEPHRONOPHTHISIS 151UNIPROT