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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:USH1C-PLEKHA7 (FusionGDB2 ID:96469)

Fusion Gene Summary for USH1C-PLEKHA7

check button Fusion gene summary
Fusion gene informationFusion gene name: USH1C-PLEKHA7
Fusion gene ID: 96469
HgeneTgene
Gene symbol

USH1C

PLEKHA7

Gene ID

10083

144100

Gene nameUSH1 protein network component harmoninpleckstrin homology domain containing A7
SynonymsAIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst-
Cytomap

11p15.1

11p15.2-p15.1

Type of geneprotein-codingprotein-coding
DescriptionharmoninUsher 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 proteinpleckstrin 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 A
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000318024, ENST00000527020, 
ENST00000005226, ENST00000527720, 
ENST00000529563, 
ENST00000531066, 
ENST00000355661, ENST00000448080, 
ENST00000532079, ENST00000332954, 
Fusion gene scores* DoF score3 X 3 X 2=1811 X 9 X 4=396
# samples 311
** MAII scorelog2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(11/396*10)=-1.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: USH1C [Title/Abstract] AND PLEKHA7 [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
HgeneUSH1C

GO:0034622

cellular protein-containing complex assembly

26812018


check buttonFusion gene breakpoints across USH1C (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 PLEKHA7 (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
ChimerDB4STADTCGA-CG-5724-01AUSH1Cchr11

17538948

-PLEKHA7chr11

16800567

-


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Fusion Gene ORF analysis for USH1C-PLEKHA7

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-frameENST00000318024ENST00000531066USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000318024ENST00000355661USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000318024ENST00000448080USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000318024ENST00000532079USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000318024ENST00000332954USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
In-frameENST00000527020ENST00000531066USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527020ENST00000355661USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527020ENST00000448080USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527020ENST00000532079USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527020ENST00000332954USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-3CDSENST00000005226ENST00000531066USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000005226ENST00000355661USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000005226ENST00000448080USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000005226ENST00000532079USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000005226ENST00000332954USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
In-frameENST00000527720ENST00000531066USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527720ENST00000355661USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527720ENST00000448080USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527720ENST00000532079USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
5CDS-intronENST00000527720ENST00000332954USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-3CDSENST00000529563ENST00000531066USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000529563ENST00000355661USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000529563ENST00000448080USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000529563ENST00000532079USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-
intron-intronENST00000529563ENST00000332954USH1Cchr11

17538948

-PLEKHA7chr11

16800567

-

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)
ENST00000318024USH1Cchr1117538948-ENST00000531066PLEKHA7chr1116800567-211913931091404431
ENST00000527020USH1Cchr1117538948-ENST00000531066PLEKHA7chr1116800567-20461320931331412
ENST00000527720USH1Cchr1117538948-ENST00000531066PLEKHA7chr1116800567-216214361971447416

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
ENST00000318024ENST00000531066USH1Cchr1117538948-PLEKHA7chr1116800567-0.009391570.99060845
ENST00000527020ENST00000531066USH1Cchr1117538948-PLEKHA7chr1116800567-0.0084641680.9915358
ENST00000527720ENST00000531066USH1Cchr1117538948-PLEKHA7chr1116800567-0.0052827250.9947173

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Fusion Genomic Features for USH1C-PLEKHA7


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 USH1C-PLEKHA7


check button Go to

FGviewer for the breakpoints of chr11:17538948-chr11:16800567

.
- 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
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000318024-1521310_377428.0553.0Coiled coilOntology_term=ECO:0000255
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527020-1420310_377409.0534.0Coiled coilOntology_term=ECO:0000255
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527720-1420310_377397.0522.0Coiled coilOntology_term=ECO:0000255
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000318024-1521211_293428.0553.0DomainPDZ 2
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000318024-152187_169428.0553.0DomainPDZ 1
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527020-1420211_293409.0534.0DomainPDZ 2
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527020-142087_169409.0534.0DomainPDZ 1
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527720-1420211_293397.0522.0DomainPDZ 2
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527720-142087_169397.0522.0DomainPDZ 1
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000318024-15211_86428.0553.0RegionN-terminal domain
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527020-14201_86409.0534.0RegionN-terminal domain
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527720-14201_86397.0522.0RegionN-terminal domain
TgenePLEKHA7chr11:17538948chr11:16800567ENST000003556610231067_109401122.0Coiled coilOntology_term=ECO:0000255
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000355661023700_80101122.0Coiled coilOntology_term=ECO:0000255
TgenePLEKHA7chr11:17538948chr11:16800567ENST000004480800231067_109401123.0Coiled coilOntology_term=ECO:0000255
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000448080023700_80101123.0Coiled coilOntology_term=ECO:0000255
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000355661023567_59901122.0Compositional biasNote=Pro-rich
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000355661023845_94201122.0Compositional biasNote=Pro-rich
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000448080023567_59901123.0Compositional biasNote=Pro-rich
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000448080023845_94201123.0Compositional biasNote=Pro-rich
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000355661023164_28201122.0DomainPH
TgenePLEKHA7chr11:17538948chr11:16800567ENST0000035566102354_8701122.0DomainWW 2
TgenePLEKHA7chr11:17538948chr11:16800567ENST000003556610239_4201122.0DomainWW 1
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000448080023164_28201123.0DomainPH
TgenePLEKHA7chr11:17538948chr11:16800567ENST0000044808002354_8701123.0DomainWW 2
TgenePLEKHA7chr11:17538948chr11:16800567ENST000004480800239_4201123.0DomainWW 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000005226-127310_3770.0900.0Coiled coilOntology_term=ECO:0000255
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000005226-127211_2930.0900.0DomainPDZ 2
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000005226-127452_5370.0900.0DomainPDZ 3
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000005226-12787_1690.0900.0DomainPDZ 1
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000318024-1521452_537428.0553.0DomainPDZ 3
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527020-1420452_537409.0534.0DomainPDZ 3
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000527720-1420452_537397.0522.0DomainPDZ 3
HgeneUSH1Cchr11:17538948chr11:16800567ENST00000005226-1271_860.0900.0RegionN-terminal domain


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Fusion Gene Sequence for USH1C-PLEKHA7


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.
>In-frame_ENST00000318024_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(transcript)=2119nt_BP=1393nt
AGCTCCGAGGGCGGCTGGCCCGGTCGCGGTCGCGGCTCTTTCCAGCTCCTGGCAGCCGGGCACCCGAAGGAACGGGTCGTGCAACGACGC
AGCTGGACCTGGCCCAGCCATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAGGTGGATTTTCTGATTGAAAATGATGCAGAGAAGGA
CTATCTCTATGATGTGCTGCGAATGTACCACCAGACCATGGACGTGGCCGTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAG
CCGTCTGCCTCTGTTTGATGCCATTCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCCAGGAA
GCTGAAGGAGGTGCGTCTGGACCGTCTGCACCCCGAAGGCCTCGGCCTGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCAT
CTCCCACCTCATCAAAGGCGGTCAGGCAGACAGCGTCGGGCTCCAGGTAGGGGACGAGATCGTCCGGATCAATGGATATTCCATCTCCTC
CTGTACCCATGAGGAGGTCATCAACCTCATTCGAACCAAGAAAACTGTGTCCATCAAAGTGAGACACATCGGCCTGATCCCCGTGAAAAG
CTCTCCTGATGAGCCCCTCACTTGGCAGTATGTGGATCAGTTTGTGTCGGAATCTGGGGGCGTGCGAGGCAGCCTGGGCTCCCCTGGAAA
TCGGGAAAACAAGGAGAAGAAGGTCTTCATCAGCCTGGTAGGCTCCCGAGGCCTTGGCTGCAGCATTTCCAGCGGCCCCATCCAGAAGCC
TGGCATCTTTATCAGCCATGTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAGATAGGGGACCAGATTGTCGAAGTCAATGGCGT
CGACTTCTCTAACCTGGATCACAAGGAGGCTGTAAATGTGCTGAAGAGTAGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCTGGCCG
GGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGC
GATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCAAAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGA
GAGATACCGGAAGGAGATGGAACAGATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGGGGCTCAAAGGAACAGCT
ACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGCAAGCCAAAGTATGATCAGGGAGTGGAACCTGAGCTCGAGCC
CGCAGATGACCTGGATGGAGGCACGGAGGAGCAGGGAGAGCAGCCCAGGCAGTGACTGACCCGTGACCCAGCATGCAAAGAAGCCTGGAG
CCAGGGGCCCAGTGGAACCAGCTTCCTCCAAGGAGATGACCTTTCTGCCCCCAAGGAAACCCCTTCCAGCTGAGCAGGGAATCCGGCCGG
AGGAAGGAGCAGCTTACCGACTGCGGGTGTTCACCACAGGCCAGGCCCTAATATGCACCCACTAGTTTAGCTCAGACTCCTCTCTACATA
TGAATGGCAAAGGCACTTTTGATATACACTGTAAAATACACTGTATTTTAGAATCGGAATCTATTTTCTAATGTTCCCCTCAAGGGCTGA
GTGGCAGGAAGGTTGAGGATGCAGGACTTTGCAGCTGCACGTACAGATTCAGGTACTTCTGGGTGACAGGTGTTGTGGGGGCAGGAAGGG
CGGGGCAAGCCGAGGCTAGTCCAACTTCCAATGACCTCAGGAGAAAGTGAGATTTAAAGAGGTGTTCCCAGTAGACTCCAGCAAGAGGCT
GGTTGGCGTGCTGTCTGGGAGAAGAGGGGCCCTTGGCTGCAGAGATCAGCTGTCCCTGACCTGATGACCAGCTCTGTGTGAAACTCCACG
AGGATCACACGTGGAGCCCAAGTCTGTGCCTTGCCCCTTGGGTTTGGCTTAGGGGCAACAGTGTGTTCAAGAGGACTGGGGCCCACAACC

>In-frame_ENST00000318024_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(amino acids)=431AA_start in transcript=109_stop in transcript=1404
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRL
DRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPL
TWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLD
HKEAVNVLKSSRSLTISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEM

--------------------------------------------------------------
>In-frame_ENST00000527020_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(transcript)=2046nt_BP=1320nt
GGCCCGGTCGCGGTCGCGGCTCTTTCCAGCTCCTGGCAGCCGGGCACCCGAAGGAACGGGTCGTGCAACGACGCAGCTGGACCTGGCCCA
GCCATGGACCGAAAAGTGGCCCGAGAATTCCGGCATAAGGTGGATTTTCTGATTGAAAATGATGCAGAGAAGGACTATCTCTATGATGTG
CTGCGAATGTACCACCAGACCATGGACGTGGCCGTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAGCCGTCTGCCTCTGTTT
GATGCCATTCGGCCGCTGATCCCACTGAAGCACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCCAGGAAGCTGAAGGAGGTGCGT
CTGGACCGTCTGCACCCCGAAGGCCTCGGCCTGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCATCTCCCACCTCATCAAA
GGCGGTCAGGCAGACAGCGTCGGGCTCCAGGTAGGGGACGAGATCGTCCGGATCAATGGATATTCCATCTCCTCCTGTACCCATGAGGAG
GTCATCAACCTCATTCGAACCAAGAAAACTGTGTCCATCAAAGTGAGACACATCGGCCTGATCCCCGTGAAAAGCTCTCCTGATGAGCCC
CTCACTTGGCAGTATGTGGATCAGTTTGTGTCGGAATCTGGGGGCGTGCGAGGCAGCCTGGGCTCCCCTGGAAATCGGGAAAACAAGGAG
AAGAAGGTCTTCATCAGCCTGGTAGGCTCCCGAGGCCTTGGCTGCAGCATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGC
CATGTGAAACCTGGCTCCCTGTCTGCTGAGGTGGGATTGGAGATAGGGGACCAGATTGTCGAAGTCAATGGCGTCGACTTCTCTAACCTG
GATCACAAGGAGGGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGCGTGAGCTGCAGCGGCAGGAGCTTCTC
ATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGCAAAGGAGAAAAGAAATTGCCCAGAAG
GCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATGGAACAGATTGTAGAGGAGGAAGAGAAGTTTAAGAAGCAATGGGAAGAAGACTGG
GGCTCAAAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTCGCAAGCCAAAGTATGATCAGGGAGTG
GAACCTGAGCTCGAGCCCGCAGATGACCTGGATGGAGGCACGGAGGAGCAGGGAGAGCAGCCCAGGCAGTGACTGACCCGTGACCCAGCA
TGCAAAGAAGCCTGGAGCCAGGGGCCCAGTGGAACCAGCTTCCTCCAAGGAGATGACCTTTCTGCCCCCAAGGAAACCCCTTCCAGCTGA
GCAGGGAATCCGGCCGGAGGAAGGAGCAGCTTACCGACTGCGGGTGTTCACCACAGGCCAGGCCCTAATATGCACCCACTAGTTTAGCTC
AGACTCCTCTCTACATATGAATGGCAAAGGCACTTTTGATATACACTGTAAAATACACTGTATTTTAGAATCGGAATCTATTTTCTAATG
TTCCCCTCAAGGGCTGAGTGGCAGGAAGGTTGAGGATGCAGGACTTTGCAGCTGCACGTACAGATTCAGGTACTTCTGGGTGACAGGTGT
TGTGGGGGCAGGAAGGGCGGGGCAAGCCGAGGCTAGTCCAACTTCCAATGACCTCAGGAGAAAGTGAGATTTAAAGAGGTGTTCCCAGTA
GACTCCAGCAAGAGGCTGGTTGGCGTGCTGTCTGGGAGAAGAGGGGCCCTTGGCTGCAGAGATCAGCTGTCCCTGACCTGATGACCAGCT
CTGTGTGAAACTCCACGAGGATCACACGTGGAGCCCAAGTCTGTGCCTTGCCCCTTGGGTTTGGCTTAGGGGCAACAGTGTGTTCAAGAG

>In-frame_ENST00000527020_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(amino acids)=412AA_start in transcript=93_stop in transcript=1331
MDRKVAREFRHKVDFLIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRL
DRLHPEGLGLSVRGGLEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPL
TWQYVDQFVSESGGVRGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLD
HKEGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWEEDWG

--------------------------------------------------------------
>In-frame_ENST00000527720_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(transcript)=2162nt_BP=1436nt
GTGGTCTGCATAGGTCTGATGCATTGGGGTCAGAGGGGCAGCCTGGCCTGTGGCTCCTCTTCTCTCCTCACAACTCCAGCCCTGAAAAGC
TGCTGGGGAGGCCCTTGGGGATGACCTCTCCTCCCTGAGGTCTGCTATGGGGGCGGGTGCTGAGCCTGGAGCTGTGATTCTGCTATTGGA
TTTTCCAGGTGGATTTTCTGATTGAAAATGATGCAGAGAAGGACTATCTCTATGATGTGCTGCGAATGTACCACCAGACCATGGACGTGG
CCGTGCTCGTGGGAGACCTGAAGCTGGTCATCAATGAACCCAGCCGTCTGCCTCTGTTTGATGCCATTCGGCCGCTGATCCCACTGAAGC
ACCAGGTGGAATATGATCAGCTGACCCCCCGGCGCTCCAGGAAGCTGAAGGAGGTGCGTCTGGACCGTCTGCACCCCGAAGGCCTCGGCC
TGAGTGTGCGTGGTGGCCTGGAGTTTGGCTGTGGGCTCTTCATCTCCCACCTCATCAAAGGCGGTCAGGCAGACAGCGTCGGGCTCCAGG
TAGGGGACGAGATCGTCCGGATCAATGGATATTCCATCTCCTCCTGTACCCATGAGGAGGTCATCAACCTCATTCGAACCAAGAAAACTG
TGTCCATCAAAGTGAGACACATCGGCCTGATCCCCGTGAAAAGCTCTCCTGATGAGCCCCTCACTTGGCAGTATGTGGATCAGTTTGTGT
CGGAATCTGGGGGCGTGCGAGGCAGCCTGGGCTCCCCTGGAAATCGGGAAAACAAGGAGAAGAAGGTCTTCATCAGCCTGGTAGGCTCCC
GAGGCCTTGGCTGCAGCATTTCCAGCGGCCCCATCCAGAAGCCTGGCATCTTTATCAGCCATGTGAAACCTGGCTCCCTGTCTGCTGAGG
TGGGATTGGAGATAGGGGACCAGATTGTCGAAGTCAATGGCGTCGACTTCTCTAACCTGGATCACAAGGAGGCTGTAAATGTGCTGAAGA
GTAGCCGCAGCCTGACCATCTCCATTGTAGCTGCAGCTGGCCGGGAGCTGTTCATGACAGACCGGGAGCGGCTGGCAGAGGCGCGGCAGC
GTGAGCTGCAGCGGCAGGAGCTTCTCATGCAGAAGCGGCTGGCGATGGAGTCCAACAAGATCCTCCAGGAGCAGCAGGAGATGGAGCGGC
AAAGGAGAAAAGAAATTGCCCAGAAGGCAGCAGAGGAAAATGAGAGATACCGGAAGGAGATGGAACAGATTGTAGAGGAGGAAGAGAAGT
TTAAGAAGCAATGGGAAGAAGACTGGGGCTCAAAGGAACAGCTACTCTTGCCTAAAACCATCACTGCTGAGGTACACCCAGTACCCCTTC
GCAAGCCAAAGTATGATCAGGGAGTGGAACCTGAGCTCGAGCCCGCAGATGACCTGGATGGAGGCACGGAGGAGCAGGGAGAGCAGCCCA
GGCAGTGACTGACCCGTGACCCAGCATGCAAAGAAGCCTGGAGCCAGGGGCCCAGTGGAACCAGCTTCCTCCAAGGAGATGACCTTTCTG
CCCCCAAGGAAACCCCTTCCAGCTGAGCAGGGAATCCGGCCGGAGGAAGGAGCAGCTTACCGACTGCGGGTGTTCACCACAGGCCAGGCC
CTAATATGCACCCACTAGTTTAGCTCAGACTCCTCTCTACATATGAATGGCAAAGGCACTTTTGATATACACTGTAAAATACACTGTATT
TTAGAATCGGAATCTATTTTCTAATGTTCCCCTCAAGGGCTGAGTGGCAGGAAGGTTGAGGATGCAGGACTTTGCAGCTGCACGTACAGA
TTCAGGTACTTCTGGGTGACAGGTGTTGTGGGGGCAGGAAGGGCGGGGCAAGCCGAGGCTAGTCCAACTTCCAATGACCTCAGGAGAAAG
TGAGATTTAAAGAGGTGTTCCCAGTAGACTCCAGCAAGAGGCTGGTTGGCGTGCTGTCTGGGAGAAGAGGGGCCCTTGGCTGCAGAGATC
AGCTGTCCCTGACCTGATGACCAGCTCTGTGTGAAACTCCACGAGGATCACACGTGGAGCCCAAGTCTGTGCCTTGCCCCTTGGGTTTGG
CTTAGGGGCAACAGTGTGTTCAAGAGGACTGGGGCCCACAACCTGCCCCCAGGCTTCCTCCAGCAAAAGGCTCTTGTCAGAAAGAAAAAA

>In-frame_ENST00000527720_ENST00000531066_TCGA-CG-5724-01A_USH1C_chr11_17538948_-_PLEKHA7_chr11_16800567_length(amino acids)=416AA_start in transcript=197_stop in transcript=1447
MIENDAEKDYLYDVLRMYHQTMDVAVLVGDLKLVINEPSRLPLFDAIRPLIPLKHQVEYDQLTPRRSRKLKEVRLDRLHPEGLGLSVRGG
LEFGCGLFISHLIKGGQADSVGLQVGDEIVRINGYSISSCTHEEVINLIRTKKTVSIKVRHIGLIPVKSSPDEPLTWQYVDQFVSESGGV
RGSLGSPGNRENKEKKVFISLVGSRGLGCSISSGPIQKPGIFISHVKPGSLSAEVGLEIGDQIVEVNGVDFSNLDHKEAVNVLKSSRSLT
ISIVAAAGRELFMTDRERLAEARQRELQRQELLMQKRLAMESNKILQEQQEMERQRRKEIAQKAAEENERYRKEMEQIVEEEEKFKKQWE

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Fusion Gene PPI Analysis for USH1C-PLEKHA7


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
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000355661023538_69601122.0CTNND1
TgenePLEKHA7chr11:17538948chr11:16800567ENST00000448080023538_69601123.0CTNND1


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 USH1C-PLEKHA7


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 USH1C-PLEKHA7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneUSH1CC3711374Nonsyndromic Deafness5CLINGEN
HgeneUSH1CC0154860Hereditary retinal dystrophy4CLINGEN
HgeneUSH1CC1568247Usher Syndrome, Type I4CLINGEN
HgeneUSH1CC1848638USHER SYNDROME, TYPE IB (disorder)4CLINGEN
HgeneUSH1CC1848639USHER SYNDROME, TYPE IA, FORMERLY4CLINGEN
HgeneUSH1CC1848640USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY4CLINGEN
HgeneUSH1CC1384666hearing impairment1GENOMICS_ENGLAND
HgeneUSH1CC1848604USHER SYNDROME, TYPE IC1GENOMICS_ENGLAND
HgeneUSH1CC1865870Deafness, Autosomal Recessive 181CTD_human;GENOMICS_ENGLAND
HgeneUSH1CC2931205Usher syndrome, type 1A1GENOMICS_ENGLAND
HgeneUSH1CC2931207Usher syndrome, type 1C1CTD_human
TgenePLEKHA7C0017605Angle Closure Glaucoma2CTD_human
TgenePLEKHA7C0008924Cleft upper lip1GENOMICS_ENGLAND