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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:PLEKHA7-USH1C (FusionGDB2 ID:65823)

Fusion Gene Summary for PLEKHA7-USH1C

check button Fusion gene summary
Fusion gene informationFusion gene name: PLEKHA7-USH1C
Fusion gene ID: 65823
HgeneTgene
Gene symbol

PLEKHA7

USH1C

Gene ID

144100

10083

Gene namepleckstrin homology domain containing A7USH1 protein network component harmonin
Synonyms-AIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst
Cytomap

11p15.2-p15.1

11p15.1

Type of geneprotein-codingprotein-coding
Descriptionpleckstrin homology domain-containing family A member 7PH domain-containing family A member 7pleckstrin homology domain containing, family A member 2pleckstrin homology domain containing, family A member 7pleckstrin homology domain-containing family AharmoninUsher syndrome 1C (autosomal recessive, severe)antigen NY-CO-38/NY-CO-37autoimmune enteropathy-related antigen AIE-75renal carcinoma antigen NY-REN-3usher syndrome type-1C protein
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000531066, ENST00000355661, 
ENST00000448080, ENST00000532079, 
ENST00000332954, 		ENST00000318024, 
ENST00000527020, ENST00000005226, 
ENST00000527720, ENST00000529563, 
Fusion gene scores* DoF score18 X 12 X 7=15122 X 2 X 2=8
# samples 223
** MAII scorelog2(22/1512*10)=-2.78088271069641
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(3/8*10)=1.90689059560852
Context

PubMed: PLEKHA7 [Title/Abstract] AND USH1C [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPLEKHA7(17035536)-USH1C(17523527), # samples:3
USH1C(17538948)-PLEKHA7(16800567), # 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
TgeneUSH1C

GO:0034622

cellular protein-containing complex assembly

26812018


check buttonFusion gene breakpoints across PLEKHA7 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across USH1C (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4ESCATCGA-L5-A8NE-01APLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
ChimerDB4ESCATCGA-L5-A8NEPLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
ChimerDB4ESCATCGA-L5-A8NEPLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
ChimerDB4ESCATCGA-L5-A8NEPLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
ChimerDB4ESCATCGA-L5-A8NE-01APLEKHA7chr11

17035536

-USH1Cchr11

17523527

-


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Fusion Gene ORF analysis for PLEKHA7-USH1C

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
Frame-shiftENST00000531066ENST00000318024PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000527020PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000005226PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000527720PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000531066ENST00000529563PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000318024PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000527020PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000005226PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000527720PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000355661ENST00000529563PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000318024PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000527020PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000005226PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000527720PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000448080ENST00000529563PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000318024PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000527020PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000005226PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000527720PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-5UTRENST00000532079ENST00000529563PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000318024PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000527020PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000005226PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000527720PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
intron-5UTRENST00000332954ENST00000529563PLEKHA7chr11

17035536

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000318024PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000527020PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000005226PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000531066ENST00000527720PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000531066ENST00000529563PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000318024PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000527020PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000005226PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000355661ENST00000527720PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000355661ENST00000529563PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000318024PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000527020PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000005226PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
Frame-shiftENST00000448080ENST00000527720PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
5CDS-5UTRENST00000448080ENST00000529563PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000318024PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000527020PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000005226PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000532079ENST00000527720PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-5UTRENST00000532079ENST00000529563PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000318024PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000527020PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000005226PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-3CDSENST00000332954ENST00000527720PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-
intron-5UTRENST00000332954ENST00000529563PLEKHA7chr11

17035535

-USH1Cchr11

17523527

-

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)

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

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Fusion Genomic Features for PLEKHA7-USH1C


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.

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 PLEKHA7-USH1C


check button Go to

FGviewer for the breakpoints of :-:

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
..
FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for PLEKHA7-USH1C


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.

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Fusion Gene PPI Analysis for PLEKHA7-USH1C


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 PLEKHA7-USH1C


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 PLEKHA7-USH1C


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePLEKHA7C0017605Angle Closure Glaucoma2CTD_human
HgenePLEKHA7C0008924Cleft upper lip1GENOMICS_ENGLAND
TgeneUSH1CC3711374Nonsyndromic Deafness5CLINGEN
TgeneUSH1CC0154860Hereditary retinal dystrophy4CLINGEN
TgeneUSH1CC1568247Usher Syndrome, Type I4CLINGEN
TgeneUSH1CC1848638USHER SYNDROME, TYPE IB (disorder)4CLINGEN
TgeneUSH1CC1848639USHER SYNDROME, TYPE IA, FORMERLY4CLINGEN
TgeneUSH1CC1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY4CLINGEN
TgeneUSH1CC1384666hearing impairment1GENOMICS_ENGLAND
TgeneUSH1CC1848604USHER SYNDROME, TYPE IC1GENOMICS_ENGLAND
TgeneUSH1CC1865870Deafness, Autosomal Recessive 181CTD_human;GENOMICS_ENGLAND
TgeneUSH1CC2931205Usher syndrome, type 1A1GENOMICS_ENGLAND
TgeneUSH1CC2931207Usher syndrome, type 1C1CTD_human