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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:ATP6V1H-CHD7 (FusionGDB2 ID:8212) |
Fusion Gene Summary for ATP6V1H-CHD7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP6V1H-CHD7 | Fusion gene ID: 8212 | Hgene | Tgene | Gene symbol | ATP6V1H | CHD7 | Gene ID | 51606 | 55636 |
| Gene name | ATPase H+ transporting V1 subunit H | chromodomain helicase DNA binding protein 7 | |
| Synonyms | CGI-11|MSTP042|NBP1|SFD|SFDalpha|SFDbeta|VMA13 | CRG|HH5|IS3|KAL5 | |
| Cytomap | 8q11.23 | 8q12.2 | |
| Type of gene | protein-coding | protein-coding | |
| Description | V-type proton ATPase subunit HATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit HV-ATPase 50/57 kDa subunitsV-ATPase subunit Hnef-binding protein 1protein VMA13 homologvacuolar ATP synthase subunit Hvacuolar ATPase subunit Hvacuolar proton p | chromodomain-helicase-DNA-binding protein 7ATP-dependent helicase CHD7CHARGE associationchromodomain helicase DNA binding protein 7 isoform CRA_e | |
| Modification date | 20200313 | 20200328 | |
| UniProtAcc | Q9UI12 | Q9P2D1 | |
| Ensembl transtripts involved in fusion gene | ENST00000355221, ENST00000359530, ENST00000396774, ENST00000520188, ENST00000523899, | ENST00000529472, ENST00000423902, ENST00000524602, ENST00000525508, | |
| Fusion gene scores | * DoF score | 11 X 11 X 8=968 | 9 X 5 X 6=270 |
| # samples | 15 | 9 | |
| ** MAII score | log2(15/968*10)=-2.69004454677871 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(9/270*10)=-1.58496250072116 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
| Context | PubMed: ATP6V1H [Title/Abstract] AND CHD7 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Most frequent breakpoint | ATP6V1H(54754138)-CHD7(61693559), # samples:2 | ||
| Anticipated loss of major functional domain due to fusion event. | ATP6V1H-CHD7 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Tgene partner, which is a epigenetic factor due to the frame-shifted ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Tgene partner, which is a essential gene 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) |
| 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 | ATP6V1H | GO:0006897 | endocytosis | 12032142 |
| Fusion gene breakpoints across ATP6V1H (5'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| Fusion gene breakpoints across CHD7 (3'-gene) * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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| 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 | BRCA | TCGA-C8-A138-01A | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
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Fusion Gene ORF analysis for ATP6V1H-CHD7 |
| 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 |
| 5CDS-intron | ENST00000355221 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| 5CDS-intron | ENST00000359530 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| 5CDS-intron | ENST00000396774 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000355221 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000355221 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000355221 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000359530 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000359530 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| Frame-shift | ENST00000359530 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| In-frame | ENST00000396774 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| In-frame | ENST00000396774 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| In-frame | ENST00000396774 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000520188 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000520188 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000520188 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000523899 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000523899 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-3CDS | ENST00000523899 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-intron | ENST00000520188 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| intron-intron | ENST00000523899 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| 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) |
| ENST00000396774 | ATP6V1H | chr8 | 54754138 | - | ENST00000423902 | CHD7 | chr8 | 61693559 | + | 8622 | 320 | 26 | 7648 | 2540 |
| ENST00000396774 | ATP6V1H | chr8 | 54754138 | - | ENST00000524602 | CHD7 | chr8 | 61693559 | + | 2043 | 320 | 26 | 1501 | 491 |
| ENST00000396774 | ATP6V1H | chr8 | 54754138 | - | ENST00000525508 | CHD7 | chr8 | 61693559 | + | 3432 | 320 | 26 | 2071 | 681 |
| 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 |
| ENST00000396774 | ENST00000423902 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + | 0.000786036 | 0.99921393 |
| ENST00000396774 | ENST00000524602 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + | 0.001089932 | 0.99891007 |
| ENST00000396774 | ENST00000525508 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + | 0.000552254 | 0.99944776 |
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Fusion Genomic Features for ATP6V1H-CHD7 |
| 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) |
| ATP6V1H | chr8 | 54754137 | - | CHD7 | chr8 | 61693558 | + | 1.23E-07 | 0.9999999 |
| ATP6V1H | chr8 | 54754137 | - | CHD7 | chr8 | 61693558 | + | 1.23E-07 | 0.9999999 |
| 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. |
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| 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 ATP6V1H-CHD7 |
| Four levels of functional features of fusion genes Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr8:54754138/chr8:61693559) - 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. |
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| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP6V1H | CHD7 |
| FUNCTION: Subunit of the peripheral V1 complex of vacuolar ATPase. Subunit H activates the ATPase activity of the enzyme and couples ATPase activity to proton flow. Vacuolar ATPase is responsible for acidifying a variety of intracellular compartments in eukaryotic cells, thus providing most of the energy required for transport processes in the vacuolar system (By similarity). Involved in the endocytosis mediated by clathrin-coated pits, required for the formation of endosomes. {ECO:0000250}. | FUNCTION: Probable transcription regulator. Maybe involved in the in 45S precursor rRNA production. {ECO:0000269|PubMed:22646239}. |
| 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 |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2401_2431 | 555 | 2998.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2401_2431 | 555 | 949.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2401_2431 | 555 | 1139.0 | Coiled coil | Ontology_term=ECO:0000255 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1939_1945 | 555 | 2998.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2165_2258 | 555 | 2998.0 | Compositional bias | Note=Glu-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2398_2405 | 555 | 2998.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 2726_2736 | 555 | 2998.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 597_718 | 555 | 2998.0 | Compositional bias | Note=Lys-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1939_1945 | 555 | 949.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2165_2258 | 555 | 949.0 | Compositional bias | Note=Glu-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2398_2405 | 555 | 949.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 2726_2736 | 555 | 949.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 597_718 | 555 | 949.0 | Compositional bias | Note=Lys-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1939_1945 | 555 | 1139.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2165_2258 | 555 | 1139.0 | Compositional bias | Note=Glu-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2398_2405 | 555 | 1139.0 | Compositional bias | Note=Poly-Arg | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 2726_2736 | 555 | 1139.0 | Compositional bias | Note=Poly-Ala | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 597_718 | 555 | 1139.0 | Compositional bias | Note=Lys-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1294_1464 | 555 | 2998.0 | Domain | Helicase C-terminal | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 800_867 | 555 | 2998.0 | Domain | Chromo 1 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 882_947 | 555 | 2998.0 | Domain | Chromo 2 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 980_1154 | 555 | 2998.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1294_1464 | 555 | 949.0 | Domain | Helicase C-terminal | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 800_867 | 555 | 949.0 | Domain | Chromo 1 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 882_947 | 555 | 949.0 | Domain | Chromo 2 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 980_1154 | 555 | 949.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1294_1464 | 555 | 1139.0 | Domain | Helicase C-terminal | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 800_867 | 555 | 1139.0 | Domain | Chromo 1 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 882_947 | 555 | 1139.0 | Domain | Chromo 2 | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 980_1154 | 555 | 1139.0 | Domain | Helicase ATP-binding | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 1105_1108 | 555 | 2998.0 | Motif | Note=DEAH box | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 1105_1108 | 555 | 949.0 | Motif | Note=DEAH box | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 1105_1108 | 555 | 1139.0 | Motif | Note=DEAH box | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 993_1000 | 555 | 2998.0 | Nucleotide binding | ATP | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 993_1000 | 555 | 949.0 | Nucleotide binding | ATP | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 993_1000 | 555 | 1139.0 | Nucleotide binding | ATP |
| - 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 |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 151_222 | 555 | 2998.0 | Compositional bias | Note=Gln-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000423902 | 1 | 38 | 383_568 | 555 | 2998.0 | Compositional bias | Note=Pro-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 151_222 | 555 | 949.0 | Compositional bias | Note=Gln-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000524602 | 0 | 5 | 383_568 | 555 | 949.0 | Compositional bias | Note=Pro-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 151_222 | 555 | 1139.0 | Compositional bias | Note=Gln-rich | |
| Tgene | CHD7 | chr8:54754138 | chr8:61693559 | ENST00000525508 | 0 | 12 | 383_568 | 555 | 1139.0 | Compositional bias | Note=Pro-rich |
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Fusion Gene Sequence for ATP6V1H-CHD7 |
| 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. |
| >8212_8212_1_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000423902_length(transcript)=8622nt_BP=320nt ATTCGCGAGGTAAGGCCGCCCTCGCGTTGTTTGGTCTCAGGCTGCAGACCAGGTCAGGCGACTCTTGCAGTTTCTCCAGCTTGCCTGGTG CGTGCTGGTGTCTCGCCGCTTGGTCCTCTCCTGTTCTTCGGCCCCCGGTTGCCAGATTGCTTTTCTTCCAGGCCTCAACCAGATTTGTTG AAAGACATTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCC AAGGCTGCAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGG ATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGA AGAAAAAGAAAAACAACCACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAAC TAAATAGGAACTCACTGGATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAAC CCAAGGAGAAAAAAGAGCCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCA CGCCAAAACCCAAATCCAGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAA CAGAAGGTTCTGAAAATTCAGACTTAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGAC GGTCCAGCAGACAGGTGAAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTG GGAGGGATTCCCCCTCCAACACCTCCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTC GTTCAGTAAAAAAGCAGAAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTC AGTGGGCATCTATAGAAGATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCC TTTCAGAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAG AGCCTGTGACTCACTATCTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGA TCGAGGAGTTTGAGAAACTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTT CCAGGGAGTATAAAAACAATAACAAACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACT GCATTTTAGCAGATGAAATGGGTTTGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTT TTTTAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGA GTCAAGCTAGTCGTCGGACCATTCAGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATG CCATCATCACTACATTTGAGATGATTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACA GGCTGAAGAACAGGAACTGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTGGAACACAAAGTGCTGCTGACGGGAACCCCACTCCAGA ACACTGTGGAAGAACTCTTCAGCTTGCTTCATTTCTTGGAACCAAGTCGCTTCCCTTCAGAAACCACATTTATGCAAGAATTTGGTGATC TAAAAACAGAAGAGCAGGTGCAAAAACTTCAAGCTATTCTAAAGCCAATGATGTTGAGACGTCTCAAAGAGGATGTAGAAAAGAACTTGG CCCCCAAAGAAGAAACTATTATTGAAGTTGAGCTAACAAACATTCAGAAGAAATATTACCGAGCCATCCTTGAGAAGAATTTCACATTTC TTTCCAAAGGCGGTGGTCAAGCTAACGTACCTAACCTATTAAACACTATGATGGAATTGCGGAAGTGCTGCAATCATCCGTACCTTATCA ATGGTGCTGAAGAGAAAATTTTGGAAGAGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTG CTGGCAAGCTAGTGCTGATTGACAAGCTGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCT TGGACATACTGGAAGACTACCTCATTCAAAGACGGTACCCATATGAAAGGATCGACGGCCGAGTAAGAGGCAACCTCCGCCAGGCAGCTA TCGACAGATTCTCCAAACCTGATTCTGATAGGTTTGTTTTCCTCCTGTGTACAAGGGCAGGAGGTTTAGGCATTAACCTCACTGCTGCTG ATACCTGCATCATCTTTGATTCAGACTGGAATCCCCAAAATGACCTCCAGGCTCAGGCTAGATGTCATAGAATAGGACAGAGCAAATCTG TGAAAATCTACAGGCTGATTACAAGAAATTCCTATGAAAGGGAAATGTTCGACAAGGCTAGTTTGAAACTGGGCCTGGATAAAGCTGTGC TACAGTCTATGAGTGGAAGAGAAAATGCTACCAATGGGGTACAACAGCTTTCCAAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCT ATGGTGCACTCATGGATGAGGAGGATGAAGGGTCTAAATTCTGTGAAGAAGATATTGATCAGATCCTCCTACGTCGAACCCACACCATTA CCATTGAGTCAGAAGGGAAAGGTTCCACATTTGCTAAGGCCAGTTTTGTTGCATCTGGAAATAGGACAGATATTTCCTTGGATGATCCAA ATTTCTGGCAAAAGTGGGCTAAGAAGGCTGAATTGGATATTGATGCCTTAAATGGGAGGAACAACCTGGTTATTGATACTCCAAGAGTGA GAAAGCAGACCAGGCTCTACAGTGCAGTGAAGGAAGATGAGCTGATGGAGTTCTCAGACTTGGAAAGTGATTCTGAAGAAAAGCCCTGTG CAAAGCCACGGCGTCCCCAGGATAAGTCACAGGGCTATGCAAGGAGTGAATGTTTCAGGGTGGAGAAGAATCTGCTTGTCTATGGTTGGG GACGGTGGACAGACATTCTTTCCCACGGACGCTATAAACGCCAACTCACTGAGCAAGATGTAGAAACCATCTGCAGAACCATCCTGGTGT ACTGTCTTAATCATTACAAAGGGGATGAGAATATCAAAAGCTTCATCTGGGATCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCT TGGTCAACCATTCCGGTTTGTCAGCTCCTGTGCCAAGGGGAAGGAAGGGAAAGAAGGTGAAAGCCCAGAGCACACAGCCGGTGGTGCAGG ATGCCGACTGGCTGGCCAGCTGCAACCCAGATGCCCTGTTCCAGGAGGACAGCTACAAGAAACACCTGAAGCATCACTGTAACAAGGTCC TGCTGCGTGTCCGCATGCTGTACTACCTAAGACAAGAAGTGATAGGAGACCAGGCGGATAAGATCTTAGAGGGTGCTGACTCAAGTGAAG CCGATGTGTGGATCCCTGAACCTTTCCATGCTGAAGTTCCTGCAGATTGGTGGGATAAGGAAGCAGACAAATCCCTCTTAATTGGAGTGT TCAAACATGGCTATGAGAAGTACAACTCCATGCGAGCTGACCCCGCGCTGTGCTTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCA TAGCTGCCGAGCAAAGAGGAACAGACATGCTAGCAGATGGTGGTGACGGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAAC CAACCAGAACACCGTTCAAAGATGAAATAGATGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAG GCAAGCACAGTGAGAGTAATGCTGAGTTAGGCCAACTTTACTGGCCTAACACTTCAACCCTGACTACACGTCTGCGCCGGCTCATTACTG CCTATCAGCGCAGCTATAAAAGGCAACAGATGAGGCAAGAGGCCCTAATGAAGACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGA GAGCTCTGGAAGCGGAAAGGGAAGCTATTATATCTGAGAAGCGGCAAAAGTGGACAAGAAGAGAAGAGGCTGATTTTTACCGTGTGGTAT CCACCTTTGGGGTTATTTTTGACCCTGTGAAACAGCAATTTGACTGGAACCAATTTAGAGCCTTTGCCAGGCTTGACAAAAAATCTGATG AGAGTTTGGAGAAATACTTCAGTTGTTTTGTGGCCATGTGTAGGCGAGTATGTCGAATGCCCGTCAAGCCAGATGATGAACCGCCCGACC TCTCCTCCATAATTGAGCCGATCACAGAGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTC TCCATCACCCCCAGCTGGGAGAGAGGCTTAAGCTCTGCCAGCCAAGCTTGGATCTGCCAGAGTGGTGGGAGTGTGGACGGCATGACCGAG ACTTGCTGGTTGGTGCTGCTAAACACGGGGTCAGTCGGACGGATTATCACATCCTCAATGACCCTGAGTTATCCTTCTTGGATGCACATA AAAACTTTGCTCAAAACAGAGGGGCAGGTAATACATCTTCCTTGAACCCACTGGCAGTTGGATTTGTCCAGACTCCTCCAGTCATCTCAT CTGCTCATATTCAAGATGAGAGGGTACTGGAACAAGCCGAAGGCAAAGTGGAGGAGCCTGAAAACCCAGCTGCCAAGGAGAAATGTGAGG GCAAAGAAGAGGAAGAAGAAACCGATGGCAGCGGGAAGGAGAGCAAGCAGGAATGTGAGGCAGAGGCCAGCTCTGTGAAAAATGAACTGA AAGGTGTTGAGGTCGGCGCAGACACTGGGTCCAAATCTATTTCAGAGAAAGGTTCCGAAGAGGATGAAGAGGAAAAGCTGGAGGATGACG ATAAGTCGGAAGAGTCTTCCCAGCCCGAAGCAGGAGCTGTCTCTAGAGGGAAGAATTTTGATGAAGAAAGCAATGCTTCCATGAGCACTG CTAGAGATGAAACCCGAGATGGATTCTACATGGAGGACGGAGATCCTTCAGTAGCTCAGCTCCTTCATGAAAGAACATTTGCCTTCTCGT TTTGGCCTAAGGATAGAGTAATGATAAACCGCTTAGACAACATCTGTGAAGCAGTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGA TGTTTGATTTCCAAGGCCTCATCCCAGGTTACACACCCACCACAGTGGACAGCCCCTTGCAGAAGAGGAGCTTTGCTGAGCTCTCCATGG TCGGCCAAGCCAGCATTAGTGGGAGTGAGGACATCACTACGTCTCCTCAGTTGTCAAAGGAAGATGCCCTCAACCTCTCTGTCCCTCGCC AGCGGAGGAGGAGGAGGAGAAAAATCGAAATTGAGGCCGAAAGAGCTGCCAAGAGGCGAAATCTCATGGAGATGGTTGCCCAGCTTCGAG AGTCTCAGGTGGTCTCAGAAAATGGACAAGAAAAAGTTGTAGATTTATCAAAGGCCTCAAGAGAGGCAACAAGCTCTACCTCAAATTTTT CATCTCTTTCTTCAAAGTTTATCTTGCCTAATGTCTCAACACCAGTGTCTGATGCCTTTAAGACTCAAATGGAACTGCTCCAAGCAGGCC TTTCGCGCACACCCACAAGGCATCTCCTTAATGGCTCCCTAGTGGATGGAGAGCCTCCCATGAAGAGGAGGCGGGGAAGGAGGAAAAATG TGGAGGGACTTGATCTGCTTTTCATGAGCCACAAACGGACGTCATTGAGTGCAGAGGATGCTGAGGTGACCAAAGCTTTTGAAGAAGATA TAGAGACCCCACCAACAAGAAACATTCCTTCTCCCGGACAGCTGGACCCAGACACACGGATCCCTGTTATCAATCTTGAAGATGGGACTA GGCTGGTGGGGGAAGATGCTCCTAAAAATAAGGATTTAGTTGAATGGCTGAAGCTGCACCCTACTTACACTGTTGATATGCCAAGTTATG TACCAAAGAATGCAGATGTGCTGTTTTCCTCATTTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAA ACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATC TACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGA TGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAG CCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTC AGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATG CGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACC CTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATG AGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTG CCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTC TACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTG CTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCT CCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAAC CAGTACCAGTTCCAGTTCAAGTGTTTAAAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTA TAAGCTGTTCTGTAACATAGTGTAGCAAAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTG TGCAGTGCATTATTTATTATCCCTAGGAGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTT TTTTTTCTCTTGGTACCATTGGTATTATAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTAT GAAGTTATATATTTAATTTTTTAATTTTAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTC ATTTGTTTCCCTTTTTGACTGTATGGGGGTTCCCACACTCGTGCATACACACACATCCATACACTCTGACAATCTCCACGCTAGTGTGAA CGCCTCTGTCCCGAGGCGCAGCAATAATAAGGCAGCTGTTGAATGTGAAGGGTCCCTTTGGAAAATTAACCTACTGGGAGGGTTCTTGCC AGACAGAACTACAGTTCCATTGTCTCGTGGTCTTGTAATGCACTGGTAAAAACAAAATAAATAGATGAATAAATAAAGAGTGAGAGAAGA GAGAATCAGGTACCTTTTTTAAATTAAAGGACTTTGTTACTTTAGCCACAAAGCTAAAACAGCATTACCTCAGCTCTAAACTAGCCTTGA AGTTTACAGACATGACTTTGTAAATGTATTGTTTTTCTTTGTTGTGATGTCCTTTTATTTTTTTCTTTGAAAACTGCTATCATGTAAGAT >8212_8212_1_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000423902_length(amino acids)=2540AA_BP=183 MFGLRLQTRSGDSCSFSSLPGACWCLAAWSSPVLRPPVARLLFFQASTRFVERHSRLRSLDDQNGYPRCCGCCCPHQYYCCQGCRSSCKQ SQLAILSSHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGS QEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDL DKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKES GEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVK WCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGL GKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMI LTDCPELRNIPWRCVVIDEAHRLKNRNCKLLEGLKMMDLEHKVLLTGTPLQNTVEELFSLLHFLEPSRFPSETTFMQEFGDLKTEEQVQK LQAILKPMMLRRLKEDVEKNLAPKEETIIEVELTNIQKKYYRAILEKNFTFLSKGGGQANVPNLLNTMMELRKCCNHPYLINGAEEKILE EFKETHNAESPDFQLQAMIQAAGKLVLIDKLLPKLKAGGHRVLIFSQMVRCLDILEDYLIQRRYPYERIDGRVRGNLRQAAIDRFSKPDS DRFVFLLCTRAGGLGINLTAADTCIIFDSDWNPQNDLQAQARCHRIGQSKSVKIYRLITRNSYEREMFDKASLKLGLDKAVLQSMSGREN ATNGVQQLSKKEIEDLLRKGAYGALMDEEDEGSKFCEEDIDQILLRRTHTITIESEGKGSTFAKASFVASGNRTDISLDDPNFWQKWAKK AELDIDALNGRNNLVIDTPRVRKQTRLYSAVKEDELMEFSDLESDSEEKPCAKPRRPQDKSQGYARSECFRVEKNLLVYGWGRWTDILSH GRYKRQLTEQDVETICRTILVYCLNHYKGDENIKSFIWDLITPTADGQTRALVNHSGLSAPVPRGRKGKKVKAQSTQPVVQDADWLASCN PDALFQEDSYKKHLKHHCNKVLLRVRMLYYLRQEVIGDQADKILEGADSSEADVWIPEPFHAEVPADWWDKEADKSLLIGVFKHGYEKYN SMRADPALCFLERVGMPDAKAIAAEQRGTDMLADGGDGGEFDREDEDPEYKPTRTPFKDEIDEFANSPSEDKEESMEIHATGKHSESNAE LGQLYWPNTSTLTTRLRRLITAYQRSYKRQQMRQEALMKTDRRRRRPREEVRALEAEREAIISEKRQKWTRREEADFYRVVSTFGVIFDP VKQQFDWNQFRAFARLDKKSDESLEKYFSCFVAMCRRVCRMPVKPDDEPPDLSSIIEPITEERASRTLYRIELLRKIREQVLHHPQLGER LKLCQPSLDLPEWWECGRHDRDLLVGAAKHGVSRTDYHILNDPELSFLDAHKNFAQNRGAGNTSSLNPLAVGFVQTPPVISSAHIQDERV LEQAEGKVEEPENPAAKEKCEGKEEEEETDGSGKESKQECEAEASSVKNELKGVEVGADTGSKSISEKGSEEDEEEKLEDDDKSEESSQP EAGAVSRGKNFDEESNASMSTARDETRDGFYMEDGDPSVAQLLHERTFAFSFWPKDRVMINRLDNICEAVLKGKWPVNRRQMFDFQGLIP GYTPTTVDSPLQKRSFAELSMVGQASISGSEDITTSPQLSKEDALNLSVPRQRRRRRRKIEIEAERAAKRRNLMEMVAQLRESQVVSENG QEKVVDLSKASREATSSTSNFSSLSSKFILPNVSTPVSDAFKTQMELLQAGLSRTPTRHLLNGSLVDGEPPMKRRRGRRKNVEGLDLLFM SHKRTSLSAEDAEVTKAFEEDIETPPTRNIPSPGQLDPDTRIPVINLEDGTRLVGEDAPKNKDLVEWLKLHPTYTVDMPSYVPKNADVLF SSFQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWTDIVKQSGFVPESMFDRLLTGP VVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFPPGLATAATAGGDAKNPAAVLP LMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSAADSANGSVGAATAPAGLPSNP LAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGSDAEESLDKTAESSLLEDEIAQ -------------------------------------------------------------- >8212_8212_2_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000524602_length(transcript)=2043nt_BP=320nt ATTCGCGAGGTAAGGCCGCCCTCGCGTTGTTTGGTCTCAGGCTGCAGACCAGGTCAGGCGACTCTTGCAGTTTCTCCAGCTTGCCTGGTG CGTGCTGGTGTCTCGCCGCTTGGTCCTCTCCTGTTCTTCGGCCCCCGGTTGCCAGATTGCTTTTCTTCCAGGCCTCAACCAGATTTGTTG AAAGACATTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCC AAGGCTGCAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGG ATATGACTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGC CTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTG AATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTG TAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCA CGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCC AGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCC TGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCA CTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTG AGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGC TAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGC TGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTA AAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGG GTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTA AAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCA AAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGG AGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTA TAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAATTT TAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGG >8212_8212_2_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000524602_length(amino acids)=491AA_BP=96 MFGLRLQTRSGDSCSFSSLPGACWCLAAWSSPVLRPPVARLLFFQASTRFVERHSRLRSLDDQNGYPRCCGCCCPHQYYCCQGCRSSCKQ SQLAILSSHSPSEPFLEKPVPDMTQKPKQKRHRCRNPNKLDINTLTGEERVPVVNKRNGKKMGGAMAPPMKDLPRWLEENPEFAVAPDWT DIVKQSGFVPESMFDRLLTGPVVRGEGASRRGRRPKSEIARAAAAAAAVASTSGINPLLVNSLFAGMDLTSLQNLQNLQSLQLAGLMGFP PGLATAATAGGDAKNPAAVLPLMLPGMAGLPNVFGLGGLLNNPLSAATGNTTTASSQGEPEDSTSKGEEKGNENEDENKDSEKSTDAVSA ADSANGSVGAATAPAGLPSNPLAFNPFLLSTMAPGLFYPSMFLPPGLGGLTLPGFPALAGLQNAVGSSEEKAADKAEGGPFKDGETLEGS -------------------------------------------------------------- >8212_8212_3_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000525508_length(transcript)=3432nt_BP=320nt ATTCGCGAGGTAAGGCCGCCCTCGCGTTGTTTGGTCTCAGGCTGCAGACCAGGTCAGGCGACTCTTGCAGTTTCTCCAGCTTGCCTGGTG CGTGCTGGTGTCTCGCCGCTTGGTCCTCTCCTGTTCTTCGGCCCCCGGTTGCCAGATTGCTTTTCTTCCAGGCCTCAACCAGATTTGTTG AAAGACATTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCC AAGGCTGCAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGG ATATGACTCAGGTTAGTGGACCGAATGCTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGA AGAAAAAGAAAAACAACCACATTGTAGCAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAAC TAAATAGGAACTCACTGGATGGGTCCCAAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAAC CCAAGGAGAAAAAAGAGCCCAAGGAACCCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCA CGCCAAAACCCAAATCCAGCAAAAAGTCAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAA CAGAAGGTTCTGAAAATTCAGACTTAGACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGAC GGTCCAGCAGACAGGTGAAGAGAAAGCGCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTG GGAGGGATTCCCCCTCCAACACCTCCCAGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTC GTTCAGTAAAAAAGCAGAAGGAATCTGGAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTC AGTGGGCATCTATAGAAGATCTGGAAAAAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCC TTTCAGAGATTGAGGATGAGCTTTTTAATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAG AGCCTGTGACTCACTATCTGGTGAAGTGGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGA TCGAGGAGTTTGAGAAACTAATGTCCAGGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTT CCAGGGAGTATAAAAACAATAACAAACTCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACT GCATTTTAGCAGATGAAATGGGTTTGGGAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTT TTTTAGTAATTGCCCCATTGTCCACAATCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGA GTCAAGCTAGTCGTCGGACCATTCAGTTGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATG CCATCATCACTACATTTGAGATGATTTTGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACA GGCTGAAGAACAGGAACTGCAAGCTGTTGGAGGGACTCAAGATGATGGACTTGGTCAGTGACCATATTGGTGATTGCACTGAACCTGAAT AGAATTGTTGCTGACTTGATAGTCCCGTTGCTCAGAATTTGATGCCTGTAAACAGTATTTGAAAAGCTTGTCAAATATTGTGATATATTC TCTGGCACTTTCAGTTATTCAAAAGTTGTTGCCTTTTGGATTCTTACATTGTTGGCTAGTGTCTGTTAAACAGTTGTATTATAGCAGAGT GTAATCATGATAGTTTCACTAAAGTGAGTTTCAAGTATTTGTTTTACCCTTTGTTCATAAATACAGGTTGATCATACCAAATACAAAAAT CCCAGAATCCAAAACGTTTTGAGTACCCACATAATGCTAAAAGGAAATGCTCATTGGAGCATTTTGGATTTTGGATTTTCTCATTTGGGA TGTTCAACCCGTAAGTATAAATGCAGATATTCCAAAATCTAAAAATATCTGAAATCTGAAACACTCTGGTCCCAAGAATTTTGGATAAGG GATACTTAACCTGTACTGCCATTTCATTAACTGTTGGGCCAAGCTTTACTTCAGTGATGATAGTCCAGTTATTTTTCAGTGCTCATAGGT TTTGCCATACTGTGGCCAGCAGGACTTGTAGATGCAAGTTCTCAATGAGTTGGGTAGGATATCTGGGGTTGGTTTAGTTCGCACAGATGC TTAGAAGTTTGGGGCATTACAGTGCCTCAGATTTGATCTGGAGTTTTACACCACACTTATCCCATAGTCTTCCAGCTTCCCAAGAGATGA TCAGGTCTTCCTGATTAGATTTTCTAGATTTTTTTTTCAGCAGGAGCATCATGGAATAACATATCGTAGGAGTAGAAGGATTTGATTTAT TTTCTGTCTGATACTGCTGTGTGTGATTTCCTAGTGGGAATTGCAACATGACCTGTCATCCTCAGGCTTCTTTTCACTCCATAGTTTATA TAGTGGTTATGATCACTTATATTTTATTTTTAATGTACATTTGGAAAGCAAAGCTCCTGTCATTTAGCATGCCTTGGATGATTTGATGAG TTTCACGGAAGTACAAAAAGGGTTTCAAAGTATTTTTAATGCTAATTTCTGCAGGCTAATTTGATCTTTTGTTAACTGAGAGTTTGAGAT GAGAAGGAGTGTTCTGTATATTCATGGCCATATGTTTTTAGCTGAAGACTGGTATTACCAAAAAACACCTAAAAGCTTTTTGTTGCAGCT GATTCTCTGAAAGAGCAGCTTATTTTATTCTTAAAGAGATTAGAATTGCCAGCTATGCTTTTAGTTTAAAACAAACAAAATCTAGTTTTG CTTAAAGGAAAAAGTCTGACTGAATTATCCTATTTAGGGTGGGATTTCCCATTTTTCTTCCTAATGAATTATTATTAAAGCGATCCTAAG >8212_8212_3_ATP6V1H-CHD7_ATP6V1H_chr8_54754138_ENST00000396774_CHD7_chr8_61693559_ENST00000525508_length(amino acids)=681AA_BP=183 MFGLRLQTRSGDSCSFSSLPGACWCLAAWSSPVLRPPVARLLFFQASTRFVERHSRLRSLDDQNGYPRCCGCCCPHQYYCCQGCRSSCKQ SQLAILSSHSPSEPFLEKPVPDMTQVSGPNAQLVKSDDYLPSIEQQPQQKKKKKKNNHIVAEDPSKGFGKDDFPGGVDNQELNRNSLDGS QEEKKKKKRSKAKKDPKEPKEPKEKKEPKEPKTPKAPKIPKEPKEKKAKTATPKPKSSKKSSNKKPDSEASALKKKVNKGKTEGSENSDL DKTPPPSPPPEEDEDPGVQKRRSSRQVKRKRYTEDLEFKISDEEADDADAAGRDSPSNTSQSEQQESVDAEGPVVEKIMSSRSVKKQKES GEEVEIEEFYVKYKNFSYLHCQWASIEDLEKDKRIQQKIKRFKAKQGQNKFLSEIEDELFNPDYVEVDRIMDFARSTDDRGEPVTHYLVK WCSLPYEDSTWERRQDIDQAKIEEFEKLMSREPETERVERPPADDWKKSESSREYKNNNKLREYQLEGVNWLLFNWYNMRNCILADEMGL GKTIQSITFLYEIYLKGIHGPFLVIAPLSTIPNWEREFRTWTELNVVVYHGSQASRRTIQLYEMYFKDPQGRVIKGSYKFHAIITTFEMI -------------------------------------------------------------- |
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Fusion Gene PPI Analysis for ATP6V1H-CHD7 |
| 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 |
| - 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 ATP6V1H-CHD7 |
| 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 ATP6V1H-CHD7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
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