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Center for Computational Systems Medicine level1
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Fusion Gene Summary

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Fusion Gene Sample Information

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Fusion ORF Analysis

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Fusion Amino Acid Sequences

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Fusion Protein Functional Features

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Fusion Protein-Protein Interaction

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Related drugs with this fusion protein

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Related disease with this fusion protein

Fusion Protein:LRCH1-ATP13A3

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: LRCH1-ATP13A3
FusionPDB ID: 49633
FusionGDB2.0 ID: 49633
HgeneTgene
Gene symbol

LRCH1

ATP13A3

Gene ID

23143

79572

Gene nameleucine rich repeats and calponin homology domain containing 1ATPase 13A3
SynonymsCHDC1|NP81AFURS1
Cytomap

13q14.13-q14.2

3q29

Type of geneprotein-codingprotein-coding
Descriptionleucine-rich repeat and calponin homology domain-containing protein 1leucine-rich repeats and calponin homology (CH) domain containing 1neuronal protein 81probable cation-transporting ATPase 13A3ATPase family homolog up-regulated in senescence cells 1ATPase type 13A3
Modification date2020031320200313
UniProtAcc

Q9Y2L9

Q9H7F0

Ensembl transtripts involved in fusion geneENST idsENST00000311191, ENST00000389797, 
ENST00000389798, 
ENST00000439040, 
ENST00000256031, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score12 X 7 X 5=4207 X 9 X 5=315
# samples 1311
** MAII scorelog2(13/420*10)=-1.69187770463767
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(11/315*10)=-1.51784830486262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context (manual curation of fusion genes in FusionPDB)

PubMed: LRCH1 [Title/Abstract] AND ATP13A3 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)LRCH1(47127838)-ATP13A3(194126845), # samples:1
Anticipated loss of major functional domain due to fusion event.LRCH1-ATP13A3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted ORF.
LRCH1-ATP13A3 seems lost the major protein functional domain in Tgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneLRCH1

GO:0034260

negative regulation of GTPase activity

28028151


check buttonFusion gene breakpoints across LRCH1 (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 ATP13A3 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


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Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4Non-Cancer173NLRCH1chr13

47127838

+ATP13A3chr3

194126845

-


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Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000311191LRCH1chr1347127838+ENST00000256031ATP13A3chr3194126845-397353661534193
ENST00000389798LRCH1chr1347127838+ENST00000256031ATP13A3chr3194126845-39415045832193
ENST00000389797LRCH1chr1347127838+ENST00000256031ATP13A3chr3194126845-38814445232174

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
ENST00000311191ENST00000256031LRCH1chr1347127838+ATP13A3chr3194126845-0.61424940.38575056
ENST00000389798ENST00000256031LRCH1chr1347127838+ATP13A3chr3194126845-0.610213460.38978657
ENST00000389797ENST00000256031LRCH1chr1347127838+ATP13A3chr3194126845-0.60887850.39112148

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Fusion Amino Acid Sequences


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

>49633_49633_1_LRCH1-ATP13A3_LRCH1_chr13_47127838_ENST00000311191_ATP13A3_chr3_194126845_ENST00000256031_length(amino acids)=193AA_BP=0
MYFAFGVFFLQPRAQGKQHFPHRSTDSCLHRVREVVPGGCGTGKFLQFPGAQVQPPGVGRLLKRALQTPVQGQVEAPAATAATTRPAGGA
GSSVVLMVVVVVVGMMKWVQSSYRKGRDERLGFASRRRHLLPGPPTPPRRSCGGVTAFPARGKRQLGLSAAVLHRKALEGGEEGVGRRVE

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

>49633_49633_2_LRCH1-ATP13A3_LRCH1_chr13_47127838_ENST00000389797_ATP13A3_chr3_194126845_ENST00000256031_length(amino acids)=174AA_BP=0
MYFAFGVFFLQPRAQGKQHFPHRSTDSCLHRVREVVPGGCGTGKFLQFPGAQVQPPGVGRLLKRALQTPVQGQVEAPAATAATTRPAGGA

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

>49633_49633_3_LRCH1-ATP13A3_LRCH1_chr13_47127838_ENST00000389798_ATP13A3_chr3_194126845_ENST00000256031_length(amino acids)=193AA_BP=0
MYFAFGVFFLQPRAQGKQHFPHRSTDSCLHRVREVVPGGCGTGKFLQFPGAQVQPPGVGRLLKRALQTPVQGQVEAPAATAATTRPAGGA
GSSVVLMVVVVVVGMMKWVQSSYRKGRDERLGFASRRRHLLPGPPTPPRRSCGGVTAFPARGKRQLGLSAAVLHRKALEGGEEGVGRRVE

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

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Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr13:47127838/chr3:194126845)
- 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
LRCH1

Q9Y2L9

ATP13A3

Q9H7F0

FUNCTION: Acts as a negative regulator of GTPase CDC42 by sequestering CDC42-guanine exchange factor DOCK8. Probably by preventing CDC42 activation, negatively regulates CD4(+) T-cell migration. {ECO:0000269|PubMed:28028151}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page

* Minus value of BPloci means that the break pointn is located before the CDS.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+11921_36102.33333333333333697.0Compositional biasNote=His-rich
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+11937_54102.33333333333333697.0Compositional biasNote=Gly-rich
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+12021_36102.33333333333333764.0Compositional biasNote=His-rich
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+12037_54102.33333333333333764.0Compositional biasNote=Gly-rich
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+11921_36102.33333333333333729.0Compositional biasNote=His-rich
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+11937_54102.33333333333333729.0Compositional biasNote=Gly-rich

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119576_692102.33333333333333697.0DomainCalponin-homology (CH)
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120576_692102.33333333333333764.0DomainCalponin-homology (CH)
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119576_692102.33333333333333729.0DomainCalponin-homology (CH)
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119121_143102.33333333333333697.0RepeatNote=LRR 2
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119144_166102.33333333333333697.0RepeatNote=LRR 3
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119167_187102.33333333333333697.0RepeatNote=LRR 4
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119189_210102.33333333333333697.0RepeatNote=LRR 5
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119212_234102.33333333333333697.0RepeatNote=LRR 6
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119235_255102.33333333333333697.0RepeatNote=LRR 7
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119257_278102.33333333333333697.0RepeatNote=LRR 8
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+119283_304102.33333333333333697.0RepeatNote=LRR 9
HgeneLRCH1chr13:47127838chr3:194126845ENST00000311191+11998_119102.33333333333333697.0RepeatNote=LRR 1
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120121_143102.33333333333333764.0RepeatNote=LRR 2
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120144_166102.33333333333333764.0RepeatNote=LRR 3
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120167_187102.33333333333333764.0RepeatNote=LRR 4
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120189_210102.33333333333333764.0RepeatNote=LRR 5
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120212_234102.33333333333333764.0RepeatNote=LRR 6
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120235_255102.33333333333333764.0RepeatNote=LRR 7
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120257_278102.33333333333333764.0RepeatNote=LRR 8
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+120283_304102.33333333333333764.0RepeatNote=LRR 9
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389797+12098_119102.33333333333333764.0RepeatNote=LRR 1
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119121_143102.33333333333333729.0RepeatNote=LRR 2
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119144_166102.33333333333333729.0RepeatNote=LRR 3
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119167_187102.33333333333333729.0RepeatNote=LRR 4
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119189_210102.33333333333333729.0RepeatNote=LRR 5
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119212_234102.33333333333333729.0RepeatNote=LRR 6
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119235_255102.33333333333333729.0RepeatNote=LRR 7
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119257_278102.33333333333333729.0RepeatNote=LRR 8
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+119283_304102.33333333333333729.0RepeatNote=LRR 9
HgeneLRCH1chr13:47127838chr3:194126845ENST00000389798+11998_119102.33333333333333729.0RepeatNote=LRR 1
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032231_2341161.01227.0Compositional biasNote=Poly-Tyr
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133231_2341161.01227.0Compositional biasNote=Poly-Tyr
TgeneATP13A3chr13:47127838chr3:194126845ENST0000025603130321000_10201161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000025603130321074_10941161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000025603130321106_11261161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000025603130321144_11641161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032206_2261161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032233_2531161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST00000256031303229_491161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032410_4301161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032449_4691161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032941_9611161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000002560313032963_9831161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000043904031331000_10201161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000043904031331074_10941161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000043904031331106_11261161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST0000043904031331144_11641161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133206_2261161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133233_2531161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST00000439040313329_491161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133410_4301161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133449_4691161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133941_9611161.01227.0TransmembraneHelical
TgeneATP13A3chr13:47127838chr3:194126845ENST000004390403133963_9831161.01227.0TransmembraneHelical


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Fusion Protein-Protein Interaction


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

ChiPPI page.


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


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
LRCH1
ATP13A3


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


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs to LRCH1-ATP13A3


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

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Related Diseases to LRCH1-ATP13A3


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

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