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Fusion Gene Summary | |
Fusion Gene ORF analysis | |
Fusion Genomic Features | |
Fusion Protein Features | |
Fusion Gene Sequence | |
Fusion Gene PPI analysis | |
Related Drugs | |
Related Diseases |
Fusion gene:USH1C-PLEKHA7 (FusionGDB2 ID:96469) |
Fusion Gene Summary for USH1C-PLEKHA7 |
Fusion gene summary |
Fusion gene information | Fusion gene name: USH1C-PLEKHA7 | Fusion gene ID: 96469 | Hgene | Tgene | Gene symbol | USH1C | PLEKHA7 | Gene ID | 10083 | 144100 |
Gene name | USH1 protein network component harmonin | pleckstrin homology domain containing A7 | |
Synonyms | AIE-75|DFNB18|DFNB18A|NY-CO-37|NY-CO-38|PDZ-45|PDZ-73|PDZ-73/NY-CO-38|PDZ73|PDZD7C|ush1cpst | - | |
Cytomap | 11p15.1 | 11p15.2-p15.1 | |
Type of gene | protein-coding | protein-coding | |
Description | harmoninUsher 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 | pleckstrin 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 date | 20200313 | 20200313 | |
UniProtAcc | . | . | |
Ensembl transtripts involved in fusion gene | ENST00000318024, ENST00000527020, ENST00000005226, ENST00000527720, ENST00000529563, | ENST00000531066, ENST00000355661, ENST00000448080, ENST00000532079, ENST00000332954, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 11 X 9 X 4=396 |
# samples | 3 | 11 | |
** MAII score | log2(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 breakpoint | PLEKHA7(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) |
Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | USH1C | GO:0034622 | cellular protein-containing complex assembly | 26812018 |
Fusion 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. |
Fusion 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. |
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. |
Source | Disease | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChimerDB4 | STAD | TCGA-CG-5724-01A | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
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Fusion Gene ORF analysis for USH1C-PLEKHA7 |
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. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
In-frame | ENST00000318024 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000318024 | ENST00000355661 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000318024 | ENST00000448080 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000318024 | ENST00000532079 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000318024 | ENST00000332954 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
In-frame | ENST00000527020 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527020 | ENST00000355661 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527020 | ENST00000448080 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527020 | ENST00000532079 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527020 | ENST00000332954 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-3CDS | ENST00000005226 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000005226 | ENST00000355661 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000005226 | ENST00000448080 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000005226 | ENST00000532079 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000005226 | ENST00000332954 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
In-frame | ENST00000527720 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527720 | ENST00000355661 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527720 | ENST00000448080 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527720 | ENST00000532079 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
5CDS-intron | ENST00000527720 | ENST00000332954 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-3CDS | ENST00000529563 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000529563 | ENST00000355661 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000529563 | ENST00000448080 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000529563 | ENST00000532079 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
intron-intron | ENST00000529563 | ENST00000332954 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - |
ORFfinder result based on the fusion transcript sequence of in-frame fusion genes. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | Seq length (transcript) | BP loci (transcript) | Predicted start (transcript) | Predicted stop (transcript) | Seq length (amino acids) |
ENST00000318024 | USH1C | chr11 | 17538948 | - | ENST00000531066 | PLEKHA7 | chr11 | 16800567 | - | 2119 | 1393 | 109 | 1404 | 431 |
ENST00000527020 | USH1C | chr11 | 17538948 | - | ENST00000531066 | PLEKHA7 | chr11 | 16800567 | - | 2046 | 1320 | 93 | 1331 | 412 |
ENST00000527720 | USH1C | chr11 | 17538948 | - | ENST00000531066 | PLEKHA7 | chr11 | 16800567 | - | 2162 | 1436 | 197 | 1447 | 416 |
DeepORF 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. |
Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | No-coding score | Coding score |
ENST00000318024 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - | 0.00939157 | 0.99060845 |
ENST00000527020 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - | 0.008464168 | 0.9915358 |
ENST00000527720 | ENST00000531066 | USH1C | chr11 | 17538948 | - | PLEKHA7 | chr11 | 16800567 | - | 0.005282725 | 0.9947173 |
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Fusion Genomic Features for USH1C-PLEKHA7 |
FusionAI 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. |
Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand | 1-p | p (fusion gene breakpoint) |
Distribution 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. |
Distribution 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 |
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. |
Main function of each fusion partner protein. (from UniProt) |
Hgene | Tgene |
. | . |
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. |
Retention 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 * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000318024 | - | 15 | 21 | 310_377 | 428.0 | 553.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527020 | - | 14 | 20 | 310_377 | 409.0 | 534.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527720 | - | 14 | 20 | 310_377 | 397.0 | 522.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000318024 | - | 15 | 21 | 211_293 | 428.0 | 553.0 | Domain | PDZ 2 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000318024 | - | 15 | 21 | 87_169 | 428.0 | 553.0 | Domain | PDZ 1 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527020 | - | 14 | 20 | 211_293 | 409.0 | 534.0 | Domain | PDZ 2 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527020 | - | 14 | 20 | 87_169 | 409.0 | 534.0 | Domain | PDZ 1 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527720 | - | 14 | 20 | 211_293 | 397.0 | 522.0 | Domain | PDZ 2 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527720 | - | 14 | 20 | 87_169 | 397.0 | 522.0 | Domain | PDZ 1 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000318024 | - | 15 | 21 | 1_86 | 428.0 | 553.0 | Region | N-terminal domain |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527020 | - | 14 | 20 | 1_86 | 409.0 | 534.0 | Region | N-terminal domain |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527720 | - | 14 | 20 | 1_86 | 397.0 | 522.0 | Region | N-terminal domain |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 1067_1094 | 0 | 1122.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 700_801 | 0 | 1122.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 1067_1094 | 0 | 1123.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 700_801 | 0 | 1123.0 | Coiled coil | Ontology_term=ECO:0000255 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 567_599 | 0 | 1122.0 | Compositional bias | Note=Pro-rich | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 845_942 | 0 | 1122.0 | Compositional bias | Note=Pro-rich | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 567_599 | 0 | 1123.0 | Compositional bias | Note=Pro-rich | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 845_942 | 0 | 1123.0 | Compositional bias | Note=Pro-rich | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 164_282 | 0 | 1122.0 | Domain | PH | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 54_87 | 0 | 1122.0 | Domain | WW 2 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 9_42 | 0 | 1122.0 | Domain | WW 1 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 164_282 | 0 | 1123.0 | Domain | PH | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 54_87 | 0 | 1123.0 | Domain | WW 2 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 9_42 | 0 | 1123.0 | Domain | WW 1 |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000005226 | - | 1 | 27 | 310_377 | 0.0 | 900.0 | Coiled coil | Ontology_term=ECO:0000255 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000005226 | - | 1 | 27 | 211_293 | 0.0 | 900.0 | Domain | PDZ 2 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000005226 | - | 1 | 27 | 452_537 | 0.0 | 900.0 | Domain | PDZ 3 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000005226 | - | 1 | 27 | 87_169 | 0.0 | 900.0 | Domain | PDZ 1 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000318024 | - | 15 | 21 | 452_537 | 428.0 | 553.0 | Domain | PDZ 3 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527020 | - | 14 | 20 | 452_537 | 409.0 | 534.0 | Domain | PDZ 3 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000527720 | - | 14 | 20 | 452_537 | 397.0 | 522.0 | Domain | PDZ 3 |
Hgene | USH1C | chr11:17538948 | chr11:16800567 | ENST00000005226 | - | 1 | 27 | 1_86 | 0.0 | 900.0 | Region | N-terminal domain |
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Fusion Gene Sequence for USH1C-PLEKHA7 |
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 |
Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in |
Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160) |
Hgene | Hgene's interactors | Tgene | Tgene's interactors |
- Retained PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000355661 | 0 | 23 | 538_696 | 0 | 1122.0 | CTNND1 | |
Tgene | PLEKHA7 | chr11:17538948 | chr11:16800567 | ENST00000448080 | 0 | 23 | 538_696 | 0 | 1123.0 | CTNND1 |
- Lost PPIs in in-frame fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
- Retained PPIs, but lost function due to frame-shift fusion. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Related Drugs for USH1C-PLEKHA7 |
Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.8 2021-05-08) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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Related Diseases for USH1C-PLEKHA7 |
Diseases associated with fusion partners. (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
Hgene | USH1C | C3711374 | Nonsyndromic Deafness | 5 | CLINGEN |
Hgene | USH1C | C0154860 | Hereditary retinal dystrophy | 4 | CLINGEN |
Hgene | USH1C | C1568247 | Usher Syndrome, Type I | 4 | CLINGEN |
Hgene | USH1C | C1848638 | USHER SYNDROME, TYPE IB (disorder) | 4 | CLINGEN |
Hgene | USH1C | C1848639 | USHER SYNDROME, TYPE IA, FORMERLY | 4 | CLINGEN |
Hgene | USH1C | C1848640 | USHER SYNDROME, TYPE I, FRENCH VARIETY, FORMERLY | 4 | CLINGEN |
Hgene | USH1C | C1384666 | hearing impairment | 1 | GENOMICS_ENGLAND |
Hgene | USH1C | C1848604 | USHER SYNDROME, TYPE IC | 1 | GENOMICS_ENGLAND |
Hgene | USH1C | C1865870 | Deafness, Autosomal Recessive 18 | 1 | CTD_human;GENOMICS_ENGLAND |
Hgene | USH1C | C2931205 | Usher syndrome, type 1A | 1 | GENOMICS_ENGLAND |
Hgene | USH1C | C2931207 | Usher syndrome, type 1C | 1 | CTD_human |
Tgene | PLEKHA7 | C0017605 | Angle Closure Glaucoma | 2 | CTD_human |
Tgene | PLEKHA7 | C0008924 | Cleft upper lip | 1 | GENOMICS_ENGLAND |