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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:LRRCC1-SAYSD1 (FusionGDB2 ID:50066)

Fusion Gene Summary for LRRCC1-SAYSD1

check button Fusion gene summary
Fusion gene informationFusion gene name: LRRCC1-SAYSD1
Fusion gene ID: 50066
HgeneTgene
Gene symbol

LRRCC1

SAYSD1

Gene ID

85444

55776

Gene nameleucine rich repeat and coiled-coil centrosomal protein 1SAYSVFN motif domain containing 1
SynonymsCLERC|CLERK|SAP2|VFL1C6orf64
Cytomap

8q21.2

6p21.2

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat and coiled-coil domain-containing protein 1centrosomal leucine-rich repeat and coiled-coil domain-containing proteinsodium channel associated protein 2variable number of flagella 1 homologSAYSvFN domain-containing protein 1
Modification date2020031320200313
UniProtAcc

Q9C099

Q9NPB0

Ensembl transtripts involved in fusion geneENST00000360375, ENST00000414626, 
ENST00000481599, ENST00000373249, 
ENST00000229903, 
Fusion gene scores* DoF score3 X 3 X 3=272 X 1 X 2=4
# samples 32
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(2/4*10)=2.32192809488736
Context

PubMed: LRRCC1 [Title/Abstract] AND SAYSD1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointLRRCC1(86022415)-SAYSD1(39073552), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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

check buttonFusion gene breakpoints across LRRCC1 (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 SAYSD1 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

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
ChimerDB4SARCTCGA-SI-A71Q-01ALRRCC1chr8

86022415

+SAYSD1chr6

39073552

-


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Fusion Gene ORF analysis for LRRCC1-SAYSD1

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
5CDS-intronENST00000360375ENST00000481599LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-
5CDS-intronENST00000414626ENST00000481599LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-
Frame-shiftENST00000360375ENST00000373249LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-
Frame-shiftENST00000414626ENST00000373249LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-
In-frameENST00000360375ENST00000229903LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-
In-frameENST00000414626ENST00000229903LRRCC1chr8

86022415

+SAYSD1chr6

39073552

-

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000360375LRRCC1chr886022415+ENST00000229903SAYSD1chr639073552-223852514742242
ENST00000414626LRRCC1chr886022415+ENST00000229903SAYSD1chr639073552-291812058651422185

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
ENST00000360375ENST00000229903LRRCC1chr886022415+SAYSD1chr639073552-0.0018896180.9981104
ENST00000414626ENST00000229903LRRCC1chr886022415+SAYSD1chr639073552-0.0033279590.99667203

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Fusion Genomic Features for LRRCC1-SAYSD1


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for LRRCC1-SAYSD1


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/chr8:86022415/chr6:39073552)
- 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
LRRCC1

Q9C099

SAYSD1

Q9NPB0

FUNCTION: Required for the organization of the mitotic spindle. Maintains the structural integrity of centrosomes during mitosis. {ECO:0000269|PubMed:18728398}.

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
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+31944_651251033.0RepeatNote=LRR 1
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+31966_871251033.0RepeatNote=LRR 2
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+31988_1091251033.0RepeatNote=LRR 3
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+21844_651051013.0RepeatNote=LRR 1
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+21866_871051013.0RepeatNote=LRR 2
TgeneSAYSD1chr8:86022415chr6:39073552ENST00000373249026_442117.0Compositional biasNote=Ala-rich
TgeneSAYSD1chr8:86022415chr6:39073552ENST0000022990302106_12669184.0TransmembraneHelical
TgeneSAYSD1chr8:86022415chr6:39073552ENST0000037324902106_1262117.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+319421_6471251033.0Coiled coilOntology_term=ECO:0000255
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+218421_6471051013.0Coiled coilOntology_term=ECO:0000255
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+319175_2181251033.0DomainNote=LRRCT
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+218175_2181051013.0DomainNote=LRRCT
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+319110_1311251033.0RepeatNote=LRR 4
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000360375+319136_1571251033.0RepeatNote=LRR 5
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+218110_1311051013.0RepeatNote=LRR 4
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+218136_1571051013.0RepeatNote=LRR 5
HgeneLRRCC1chr8:86022415chr6:39073552ENST00000414626+21888_1091051013.0RepeatNote=LRR 3
TgeneSAYSD1chr8:86022415chr6:39073552ENST00000229903026_4469184.0Compositional biasNote=Ala-rich


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Fusion Gene Sequence for LRRCC1-SAYSD1


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>50066_50066_1_LRRCC1-SAYSD1_LRRCC1_chr8_86022415_ENST00000360375_SAYSD1_chr6_39073552_ENST00000229903_length(transcript)=2238nt_BP=525nt
GGGAAAGTTCCCGGCTGTCGGTTGGAGGGTGGGTCCTCGCCCCGCCCCGCCCCCTCGGGCCGCCCTTCCGCGCTTCCGGGAGGCTTGTCC
CAAGCTCACGGACCCCTCGCTGGGTGCCGGTTAAGACCCCGCTCCCCGTCGCCAGTGCTATGGAGGCGGCGGCGGCGGTGGTGGCGGCAG
AGGCGGAAGTGGAAAACGAAGACGGCGACAGCAGCTGCGGGGATGTATGCTTCATGGACAAAGGCTTGCAGAGCATATCAGAATTATCTT
TAGATTCAACTCTTCATGCCGTCAATCTTCATTGCAATAACATCTCCAAGATCGAAGCCATTGATCATATTTGGAATTTACAACATCTAG
ATCTGTCATCTAATCAAATAAGTAGAATTGAAGGACTAAACACACTGACAAAACTGTGCACATTAAATTTGTCCTGCAATTTGATTACAA
AAGTAGAAGGACTTGAAGAACTAATTAATCTGACTAGACTAAATGTATCTTATAACCACATAGATGATCTTAGTGGAAGCGGCTCAGCCC
CAGGGCAGCACATCAGAGACACCATGGAACACAGCCATTCCTCTGCCGTCGTGCTGGGACCAGTCTTTCCTGACCAATATCACCTTCTTG
AAGGTTCTTCTCTGGTTGGTCCTGCTGGGACTGTTTGTGGAACTGGAATTTGGCCTGGCATATTTTGTCCTGTCCTTGTTCTATTGGATG
TACGTCGGGACACGAGGCCCTGAAGAGAAGAAAGAGGGAGAGAAGAGCGCCTACTCTGTGTTCAATCCAGGCTGTGAAGCCATCCAGGGC
ACCCTGACTGCAGAGCAGTTGGAGCGCGAGTTACAGTTGAGACCCCTGGCAGGGAGATAGGACCCAGCTGTGCTGTCATGCAGCTAACCT
CTGATGTGGTCTTCCTCACCATTGGCTATGGATTTGATTTCAGGTGTATAGGACTAAGGGCAGCTTGCGGGTTAGCTCTGTGACTGCATA
GTTTTTCTACCTTCTTTCCCTGATCTTTTGCTGCCATTTGATCTTTGATAGTTTTGGTGAAACTCTCTAAAATACATTCACTGTGGGTCC
GACGCAATTTATAAAAATTATGTACTCAAGAAGGGAGACCTGTTTGTTTCATTTCTCATCTGTTTGGGAGATGATTTTAGAGCACTAGAA
AGGCACTGGGGAGATTCTCAGCTTAAAACATCCAGCAGTTTGAAGTATGATTAGGTACATCAGGGCTGCATTGTCAATGTTCTCTTTAAG
TCTTTTAACATTTATAGCAATTTTTTTTTTCCCGGAGAGTTTAGGTTGCAAGTTTTGGGTTTCTTGTTTGTTTTTGTTTTGCTTCCTGCT
TTAATTCTTTAATTTTCAGTCATTACTGGTATTGAAAAATAAAATATCTTTAAAACATCTCCTCTTCAGAAATAGGTCCCTCTTCATTGC
CCATCACCATCTTCCACTCTCCTATTATTTTGCCACTACTCAGTAAAGGAAGGTAGGAAGAGACAAACGCCTAAGTGCAGGTGTGGGGAG
GGATTTCACAAGTGGTTATTAACGGCCAGTTCAGCAAGAAGTGTTGAGTGTGTACAAAGGGGAGGGCTGGAAGTGTTAACTCCAGACCCG
TTGGCTGCTTGAGTTGTTTCTTATATTCTAAAGCAGCAGTCCCTAACCTTTTTGGCACCAGGGACCAGTTTTGTGGAACACAGTTTTTCC
ATGGACGGGGTGGTGGTGGAGGATGAAACTTCCACCTCAGATCATCAGGCATTAGAGTCTCATAAGGAGCACGCAACCTAGATCCCTCGC
ATGCGCAGTTCACAATACGGTTCTAAGGGCTTTAGAGTAAGCAGCTTTTTCACCTGTGGGCCTCTGGTGAGAAATTCTGTAAATTGTGAT
AATCAGGCTGGATTTTAATGCTGCTTTTCCAGTACAATGTTAGAGTTTGGGTTCATTAAAATTAGGCAAACTCCCATTGGGTTAGGGCTT
CTCTCATTCCATTTTGTGGCTAACCTTACTGTGTTTCAGCCCTTGCTGAAAATTCTTCTGATATGTGTTGCCCTTCCTCACAGCCCTTTG
GCCATTGGGAGTTTGGCTGTCCCTCAGAGCCATCCGGTCAAGCAGATGGTCTGTTCTATCTCACAGAAAAGTCTTTTCTTCCATGAGTTC

>50066_50066_1_LRRCC1-SAYSD1_LRRCC1_chr8_86022415_ENST00000360375_SAYSD1_chr6_39073552_ENST00000229903_length(amino acids)=242AA_BP=170
MSVGGWVLAPPRPLGPPFRASGRLVPSSRTPRWVPVKTPLPVASAMEAAAAVVAAEAEVENEDGDSSCGDVCFMDKGLQSISELSLDSTL
HAVNLHCNNISKIEAIDHIWNLQHLDLSSNQISRIEGLNTLTKLCTLNLSCNLITKVEGLEELINLTRLNVSYNHIDDLSGSGSAPGQHI

--------------------------------------------------------------
>50066_50066_2_LRRCC1-SAYSD1_LRRCC1_chr8_86022415_ENST00000414626_SAYSD1_chr6_39073552_ENST00000229903_length(transcript)=2918nt_BP=1205nt
CCCAGATAGTCACATTTAAAGGTTGCTAGTTTGAAATTTGCAAATGCTTCCCTGCTGTCAGAGTTAGGTTTCCTACAGCTGTAAGATAGC
TGCTACTCAACCTACAGCAGATGCCCGTGACATTGTGTGTTCCTGGGTGTATCTCCCATCTAGCAACTCCAAACTGTGTATGCTGTAGTT
TGTGTTCCTGGAACTACTATCTTCAGGAGAAGCTTCAGTTATAAATAGTAATTGGAGTGAAGAGATGAGTTCTGTTTAGGGGAGATCCAT
TAACTTTCAACAAGGGAGGACAGGGACTTTTTCAATAGGAATTGCAATAACATGGTTTGTTTTTGAAAATGCAATAGACTGTGGATTAAA
TAGCTATTGCACACAAAGAAGAAAATAAAGTTATAATCTCCAGCATGAGATCTGGATTTACATATGCTCTGTTAGCTGCAAGAATTTGGG
CAAGCTATTTAATTTCCATAAATTTAGGTATCCTTAAGATACCCACTGCTTAGAGTTATTGTGAGAATTAATTGAGGTAAGAAAACTGAG
GCTCAGGTTGTCATTTGCTCAAATCACACAGCAAAACCGTGATAGAATGCAGATTCAAACTGGGATATTAACATTCCAAAGCCTTTACAG
TTATTGACTACTATTCAGCACTGCCTTCAATATATGCTGATGACTGCACACAGGAGTTAGAAATGCCCACTGTCACTTGCCTGCCTTGAG
CGGTTTCTTGTTTGTATAAATAATCCAAAATACTTGGTTGTGTTGTAAGAAGCACCGTGTTTTGTGAGACATTTCAAAGGTACCACAAAT
AGGAAAGATTTCATTCTAGAATGAATAGAGCACATATTTAGTATCTACGTGCTGTTTGGTTAATTTTAGTTATTTGGTCATGCTTTTAAA
ATCTATTTTTATAGTATATATTTTCTTTTATAGCATATCAGAATTATCTTTAGATTCAACTCTTCATGCCGTCAATCTTCATTGCAATAA
CATCTCCAAGATCGAAGCCATTGATCATATTTGGAATTTACAACATCTAGATCTGTCATCTAATCAAATAAGTAGAATTGAAGGACTAAA
CACACTGACAAAACTGTGCACATTAAATTTGTCCTGCAATTTGATTACAAAAGTAGAAGGACTTGAAGAACTAATTAATCTGACTAGACT
AAATGTATCTTATAACCACATAGATGATCTTAGTGGAAGCGGCTCAGCCCCAGGGCAGCACATCAGAGACACCATGGAACACAGCCATTC
CTCTGCCGTCGTGCTGGGACCAGTCTTTCCTGACCAATATCACCTTCTTGAAGGTTCTTCTCTGGTTGGTCCTGCTGGGACTGTTTGTGG
AACTGGAATTTGGCCTGGCATATTTTGTCCTGTCCTTGTTCTATTGGATGTACGTCGGGACACGAGGCCCTGAAGAGAAGAAAGAGGGAG
AGAAGAGCGCCTACTCTGTGTTCAATCCAGGCTGTGAAGCCATCCAGGGCACCCTGACTGCAGAGCAGTTGGAGCGCGAGTTACAGTTGA
GACCCCTGGCAGGGAGATAGGACCCAGCTGTGCTGTCATGCAGCTAACCTCTGATGTGGTCTTCCTCACCATTGGCTATGGATTTGATTT
CAGGTGTATAGGACTAAGGGCAGCTTGCGGGTTAGCTCTGTGACTGCATAGTTTTTCTACCTTCTTTCCCTGATCTTTTGCTGCCATTTG
ATCTTTGATAGTTTTGGTGAAACTCTCTAAAATACATTCACTGTGGGTCCGACGCAATTTATAAAAATTATGTACTCAAGAAGGGAGACC
TGTTTGTTTCATTTCTCATCTGTTTGGGAGATGATTTTAGAGCACTAGAAAGGCACTGGGGAGATTCTCAGCTTAAAACATCCAGCAGTT
TGAAGTATGATTAGGTACATCAGGGCTGCATTGTCAATGTTCTCTTTAAGTCTTTTAACATTTATAGCAATTTTTTTTTTCCCGGAGAGT
TTAGGTTGCAAGTTTTGGGTTTCTTGTTTGTTTTTGTTTTGCTTCCTGCTTTAATTCTTTAATTTTCAGTCATTACTGGTATTGAAAAAT
AAAATATCTTTAAAACATCTCCTCTTCAGAAATAGGTCCCTCTTCATTGCCCATCACCATCTTCCACTCTCCTATTATTTTGCCACTACT
CAGTAAAGGAAGGTAGGAAGAGACAAACGCCTAAGTGCAGGTGTGGGGAGGGATTTCACAAGTGGTTATTAACGGCCAGTTCAGCAAGAA
GTGTTGAGTGTGTACAAAGGGGAGGGCTGGAAGTGTTAACTCCAGACCCGTTGGCTGCTTGAGTTGTTTCTTATATTCTAAAGCAGCAGT
CCCTAACCTTTTTGGCACCAGGGACCAGTTTTGTGGAACACAGTTTTTCCATGGACGGGGTGGTGGTGGAGGATGAAACTTCCACCTCAG
ATCATCAGGCATTAGAGTCTCATAAGGAGCACGCAACCTAGATCCCTCGCATGCGCAGTTCACAATACGGTTCTAAGGGCTTTAGAGTAA
GCAGCTTTTTCACCTGTGGGCCTCTGGTGAGAAATTCTGTAAATTGTGATAATCAGGCTGGATTTTAATGCTGCTTTTCCAGTACAATGT
TAGAGTTTGGGTTCATTAAAATTAGGCAAACTCCCATTGGGTTAGGGCTTCTCTCATTCCATTTTGTGGCTAACCTTACTGTGTTTCAGC
CCTTGCTGAAAATTCTTCTGATATGTGTTGCCCTTCCTCACAGCCCTTTGGCCATTGGGAGTTTGGCTGTCCCTCAGAGCCATCCGGTCA
AGCAGATGGTCTGTTCTATCTCACAGAAAAGTCTTTTCTTCCATGAGTTCTGTCTGAACTGAACATGTAAAAAGTATGGGAAACAGATGA

>50066_50066_2_LRRCC1-SAYSD1_LRRCC1_chr8_86022415_ENST00000414626_SAYSD1_chr6_39073552_ENST00000229903_length(amino acids)=185AA_BP=113
MVNFSYLVMLLKSIFIVYIFFYSISELSLDSTLHAVNLHCNNISKIEAIDHIWNLQHLDLSSNQISRIEGLNTLTKLCTLNLSCNLITKV
EGLEELINLTRLNVSYNHIDDLSGSGSAPGQHIRDTMEHSHSSAVVLGPVFPDQYHLLEGSSLVGPAGTVCGTGIWPGIFCPVLVLLDVR

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Fusion Gene PPI Analysis for LRRCC1-SAYSD1


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


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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Related Drugs for LRRCC1-SAYSD1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for LRRCC1-SAYSD1


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