|
||||||
|
 | |
| |
| |
| |
| |
|
Fusion gene ID: 3485 |
FusionGeneSummary for ATP6V1H_CHD7 |
 Fusion gene summary |
| Fusion gene information | Fusion gene name: ATP6V1H_CHD7 | Fusion gene ID: 3485 | 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 | 20180522 | 20180519 | |
| UniProtAcc | Q9UI12 | Q9P2D1 | |
| Ensembl transtripts involved in fusion gene | ENST00000355221, ENST00000520188, ENST00000359530, ENST00000523899, ENST00000396774, | ENST00000423902, ENST00000524602, ENST00000525508, ENST00000529472, | |
| Fusion gene scores | * DoF score | 6 X 5 X 5=150 | 5 X 2 X 3=30 |
| # samples | 6 | 5 | |
| ** MAII score | log2(6/150*10)=-1.32192809488736 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(5/30*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | |
| Context | PubMed: ATP6V1H [Title/Abstract] AND CHD7 [Title/Abstract] AND fusion [Title/Abstract] | ||
| Functional or gene categories assigned by FusionGDB annotation | |||
| * 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 information from three resources (ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018)) * 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. |
| Data type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
| TCGA | LD | BRCA | TCGA-C8-A138-01A | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
| * LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
| 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 |
| 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 | + |
| 5CDS-intron | ENST00000355221 | ENST00000529472 | 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-intron | ENST00000520188 | ENST00000529472 | 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 | + |
| 5CDS-intron | ENST00000359530 | ENST00000529472 | 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 | ENST00000523899 | ENST00000529472 | 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 | + |
| 5CDS-intron | ENST00000396774 | ENST00000529472 | ATP6V1H | chr8 | 54754138 | - | CHD7 | chr8 | 61693559 | + |
Top |
FusionProtFeatures for ATP6V1H_CHD7 |
| Main function of each fusion partner protein. (from UniProt) |
| Hgene | Tgene |
| ATP6V1H | CHD7 |
| Subunit of the peripheral V1 complex of vacuolar ATPase.Subunit H activates the ATPase activity of the enzyme and couplesATPase activity to proton flow. Vacuolar ATPase is responsible foracidifying a variety of intracellular compartments in eukaryoticcells, thus providing most of the energy required for transportprocesses in the vacuolar system (By similarity). Involved in theendocytosis mediated by clathrin-coated pits, required for theformation of endosomes. {ECO:0000250}. |
| 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 |
| - 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 |
Top |
FusionGeneSequence for ATP6V1H_CHD7 |
| For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. (nt: nucleotides, aa: amino acids) |
| * Fusion amino acid sequences. |
| >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000423902_chr8_61693559_+_2480aa MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLHIPRRSPFXRNQCRIXLRLVDRMLSXXRVMITCHQXNSSHNKRRRKRKTTTLX QRIPVKVLVKMTSLVGXITKNXIGTHWMGPKKKKRKRKGQRQKKTRRNRKNPRRKKSPRNPRPRKPLRFPKSQRKRKQKLPRQNPNPAKS QVIRNLTQKQVLXRKRSTREKQKVLKIQTXTKHPHHLLLLKKMRTQVFRRDGPADRXRESATLKTWSSRFLMRRQMMQMLLGGIPPPTPP SQNSRNLLMQKAQWXKKLXAVVQXKSRRNLERRXKLRNSMXNTKTSLIFIVSGHLXKIWKKIREFSKKLNDLRQSRARTSSFQRLRMSFL IQIMWRLTGXWTLHVAQMTGESLXLTIWXSGVHFLMKTARGSGGRTXIKQRSRSLRNXCPGSRKQSVWSDLLLMIGRNRRVPGSIKTITN SGNTSWREXTGYFSIGTTCETAFXQMKWVWEKLSSPLHFSMRYIXKESMALFXXLPHCPQSPTGKGNSEPGQSXTWLCIMGVKLVVGPFS CMKCTSKIPRVEXXRGPISFMPSSLHLRXFXLIVLSCGIFHGAVXSLMKPTGXRTGTASCWRDSRXWTWNTKCCXREPHSRTLWKNSSAC FISWNQVASLQKPHLCKNLVIXKQKSRCKNFKLFXSQXCXDVSKRMXKRTWPPKKKLLLKLSXQTFRRNITEPSLRRISHFFPKAVVKLT YLTYXTLXWNCGSAAIIRTLSMVLKRKFWKSLKKHTMQSLQIFSSRQXSRLLASXCXLTSCCQNXRLVATGCLSFPRWCAAWTYWKTTSF KDGTHMKGSTAEXEATSARQLSTDSPNLILIGLFSSCVQGQEVXALTSLLLIPASSLIQTGIPKMTSRLRLDVIEXDRANLXKSTGXLQE IPMKGKCSTRLVXNWAWIKLCYSLXVEEKMLPMGYNSFPRKKXRIFYEKGPMVHSWMRRMKGLNSVKKILIRSSYVEPTPLPLSQKGKVP HLLRPVLLHLEIGQIFPWMIQISGKSGLRRLNWILMPXMGGTTWLLILQEXESRPGSTVQXRKMSXWSSQTWKVILKKSPVQSHGVPRIS HRAMQGVNVSGWRRICLSMVGDGGQTFFPTDAINANSLSKMXKPSAEPSWCTVLIITKGMRISKASSGIXSHPQRMARLEPWSTIPVCQL LCQGEGRERRXKPRAHSRWCRMPTGWPAATQMPCSRRTATRNTXSITVTRSCCVSACCTTXDKKXXETRRIRSXRVLTQVKPMCGSLNLS MLKFLQIGGIRKQTNPSXLECSNMAMRSTTPCELTPRCAFWNESVCLMPRPXLPSKEEQTCXQMVVTGENLIEKMKTQNINQPEHRSKMK XMNLQILLQRIRKNPWKYMPQASTVRVMLSXANFTGLTLQPXLHVCAGSLLPISAAIKGNRXGKRPXXRLTGADGGLERKXELWKRKGKL LYLRSGKSGQEEKRLIFTVWYPPLGLFLTLXNSNLTGTNLEPLPGLTKNLMRVWRNTSVVLWPCVGEYVECPSSQMMNRPTSPPXLSRSQ RSEPLELCTALSCYGRSASRFSITPSWERGLSSASQAWICQSGGSVDGMTETCWLVLLNTGSVGRIITSSMTLSYPSWMHIKTLLKTEGQ VIHLPXTHWQLDLSRLLQSSHLLIFKMRGYWNKPKAKWRSLKTQLPRRNVRAKKRKKKPMAAGRRASRNVRQRPALXKMNXKVLRSAQTL GPNLFQRKVPKRMKRKSWRMTISRKSLPSPKQELSLEGRILMKKAMLPXALLEMKPEMDSTWRTEILQXLSSFMKEHLPSRFGLRIEXXX TAXTTSVKQCXKANGQXIGARCLISKASSQVTHPPQWTAPCRRGALLSSPWSAKPALVGVRTSLRLLSCQRKMPSTSLSLASGGGGGEKS KLRPKELPRGEISWRWLPSFESLRWSQKMDKKKLXIYQRPQERQQALPQIFHLFLQSLSCLMSQHQCLMPLRLKWNCSKQAFRAHPQGIS LMAPXWMESLPXRGGGEGGKMWRDLICFSXATNGRHXVQRMLRXPKLLKKIXRPHQQETFLLPDSWTQTHGSLLSILKMGLGWWGKMLLK IRIXLNGXSCTLLTLLICQVMYQRMQMCCFPHFRNRNRNDIDVETLINWIXTLXQEKKGCLLSINEMGRRWVELWRLQXRIYPGGWKKIL NLQLLQTGLIXLSSLVLFLSRCLTAFSLGLXCGERERAEEEEGPKVRSPEQPRPPLLWPPRQGSTLCWXTACLLEWTXRAFRISRISSRS SWQASWASLQDWQQLPPPEAMRRTLLLCCPXCCQEWRACPTCLAWAGCXITLCQLLLETPLLLLVKENRKTALQKERRKEMRMKTRTKTL RKAQMLFRLLTLRMDLLVLLLPRLDCPQTRXPSTLSSCPQWPRASSTHPCFYLQDWGDXRCLGSQHWQDFRMPWAPAKKRLLTRLREDPL >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000524602_chr8_61693559_+_431aa MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLHIPRRSPFXRNQCRIXLRNRNRNDIDVETLINWIXTLXQEKKGCLLSINEMGR RWVELWRLQXRIYPGGWKKILNLQLLQTGLIXLSSLVLFLSRCLTAFSLGLXCGERERAEEEEGPKVRSPEQPRPPLLWPPRQGSTLCWX TACLLEWTXRAFRISRISSRSSWQASWASLQDWQQLPPPEAMRRTLLLCCPXCCQEWRACPTCLAWAGCXITLCQLLLETPLLLLVKENR KTALQKERRKEMRMKTRTKTLRKAQMLFRLLTLRMDLLVLLLPRLDCPQTRXPSTLSSCPQWPRASSTHPCFYLQDWGDXRCLGSQHWQD >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000525508_chr8_61693559_+_621aa MTKMDIRGAVDAAVPTNIIAAKAAEVRANKVNWQSYLHIPRRSPFXRNQCRIXLRLVDRMLSXXRVMITCHQXNSSHNKRRRKRKTTTLX QRIPVKVLVKMTSLVGXITKNXIGTHWMGPKKKKRKRKGQRQKKTRRNRKNPRRKKSPRNPRPRKPLRFPKSQRKRKQKLPRQNPNPAKS QVIRNLTQKQVLXRKRSTREKQKVLKIQTXTKHPHHLLLLKKMRTQVFRRDGPADRXRESATLKTWSSRFLMRRQMMQMLLGGIPPPTPP SQNSRNLLMQKAQWXKKLXAVVQXKSRRNLERRXKLRNSMXNTKTSLIFIVSGHLXKIWKKIREFSKKLNDLRQSRARTSSFQRLRMSFL IQIMWRLTGXWTLHVAQMTGESLXLTIWXSGVHFLMKTARGSGGRTXIKQRSRSLRNXCPGSRKQSVWSDLLLMIGRNRRVPGSIKTITN SGNTSWREXTGYFSIGTTCETAFXQMKWVWEKLSSPLHFSMRYIXKESMALFXXLPHCPQSPTGKGNSEPGQSXTWLCIMGVKLVVGPFS |
| * Fusion transcript sequences (only coding sequence (CDS) region). |
| >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000423902_chr8_61693559_+_7442nt ATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTGCAGAAGTTCGTGCAAACAAA GTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGAATG CTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTGTAG CAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGTCCC AAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGGAAC CCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAAAGT CAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACTTAG ACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAAAGC GCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCTCCC AGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAATCTG GAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGGAAA AAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTTTTA ATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGAAGT GGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGTCCA GGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACAAAC TCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTTTGG GAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCACAA TCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTCAGT TGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGATTT TGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGCTGT TGGAGGGACTCAAGATGATGGACTTGGAACACAAAGTGCTGCTGACGGGAACCCCACTCCAGAACACTGTGGAAGAACTCTTCAGCTTGC TTCATTTCTTGGAACCAAGTCGCTTCCCTTCAGAAACCACATTTATGCAAGAATTTGGTGATCTAAAAACAGAAGAGCAGGTGCAAAAAC TTCAAGCTATTCTAAAGCCAATGATGTTGAGACGTCTCAAAGAGGATGTAGAAAAGAACTTGGCCCCCAAAGAAGAAACTATTATTGAAG TTGAGCTAACAAACATTCAGAAGAAATATTACCGAGCCATCCTTGAGAAGAATTTCACATTTCTTTCCAAAGGCGGTGGTCAAGCTAACG TACCTAACCTATTAAACACTATGATGGAATTGCGGAAGTGCTGCAATCATCCGTACCTTATCAATGGTGCTGAAGAGAAAATTTTGGAAG AGTTTAAAGAAACACACAATGCAGAGTCTCCAGATTTTCAGCTCCAGGCAATGATCCAGGCTGCTGGCAAGCTAGTGCTGATTGACAAGC TGCTGCCAAAACTGAAGGCTGGTGGCCACAGGGTGCTTATCTTTTCCCAGATGGTGCGCTGCTTGGACATACTGGAAGACTACCTCATTC AAAGACGGTACCCATATGAAAGGATCGACGGCCGAGTAAGAGGCAACCTCCGCCAGGCAGCTATCGACAGATTCTCCAAACCTGATTCTG ATAGGTTTGTTTTCCTCCTGTGTACAAGGGCAGGAGGTTTAGGCATTAACCTCACTGCTGCTGATACCTGCATCATCTTTGATTCAGACT GGAATCCCCAAAATGACCTCCAGGCTCAGGCTAGATGTCATAGAATAGGACAGAGCAAATCTGTGAAAATCTACAGGCTGATTACAAGAA ATTCCTATGAAAGGGAAATGTTCGACAAGGCTAGTTTGAAACTGGGCCTGGATAAAGCTGTGCTACAGTCTATGAGTGGAAGAGAAAATG CTACCAATGGGGTACAACAGCTTTCCAAGAAAGAAATAGAGGATCTTCTACGAAAAGGGGCCTATGGTGCACTCATGGATGAGGAGGATG AAGGGTCTAAATTCTGTGAAGAAGATATTGATCAGATCCTCCTACGTCGAACCCACACCATTACCATTGAGTCAGAAGGGAAAGGTTCCA CATTTGCTAAGGCCAGTTTTGTTGCATCTGGAAATAGGACAGATATTTCCTTGGATGATCCAAATTTCTGGCAAAAGTGGGCTAAGAAGG CTGAATTGGATATTGATGCCTTAAATGGGAGGAACAACCTGGTTATTGATACTCCAAGAGTGAGAAAGCAGACCAGGCTCTACAGTGCAG TGAAGGAAGATGAGCTGATGGAGTTCTCAGACTTGGAAAGTGATTCTGAAGAAAAGCCCTGTGCAAAGCCACGGCGTCCCCAGGATAAGT CACAGGGCTATGCAAGGAGTGAATGTTTCAGGGTGGAGAAGAATCTGCTTGTCTATGGTTGGGGACGGTGGACAGACATTCTTTCCCACG GACGCTATAAACGCCAACTCACTGAGCAAGATGTAGAAACCATCTGCAGAACCATCCTGGTGTACTGTCTTAATCATTACAAAGGGGATG AGAATATCAAAAGCTTCATCTGGGATCTGATCACACCCACAGCGGATGGCCAGACTCGAGCCTTGGTCAACCATTCCGGTTTGTCAGCTC CTGTGCCAAGGGGAAGGAAGGGAAAGAAGGTGAAAGCCCAGAGCACACAGCCGGTGGTGCAGGATGCCGACTGGCTGGCCAGCTGCAACC CAGATGCCCTGTTCCAGGAGGACAGCTACAAGAAACACCTGAAGCATCACTGTAACAAGGTCCTGCTGCGTGTCCGCATGCTGTACTACC TAAGACAAGAAGTGATAGGAGACCAGGCGGATAAGATCTTAGAGGGTGCTGACTCAAGTGAAGCCGATGTGTGGATCCCTGAACCTTTCC ATGCTGAAGTTCCTGCAGATTGGTGGGATAAGGAAGCAGACAAATCCCTCTTAATTGGAGTGTTCAAACATGGCTATGAGAAGTACAACT CCATGCGAGCTGACCCCGCGCTGTGCTTTCTGGAACGAGTCGGTATGCCTGATGCCAAGGCCATAGCTGCCGAGCAAAGAGGAACAGACA TGCTAGCAGATGGTGGTGACGGGGGAGAATTTGATAGAGAAGATGAAGACCCAGAATATAAACCAACCAGAACACCGTTCAAAGATGAAA TAGATGAATTTGCAAATTCTCCTTCAGAGGATAAGGAAGAATCCATGGAAATACATGCCACAGGCAAGCACAGTGAGAGTAATGCTGAGT TAGGCCAACTTTACTGGCCTAACACTTCAACCCTGACTACACGTCTGCGCCGGCTCATTACTGCCTATCAGCGCAGCTATAAAAGGCAAC AGATGAGGCAAGAGGCCCTAATGAAGACTGACCGGCGCAGACGGCGGCCTCGAGAGGAAGTGAGAGCTCTGGAAGCGGAAAGGGAAGCTA TTATATCTGAGAAGCGGCAAAAGTGGACAAGAAGAGAAGAGGCTGATTTTTACCGTGTGGTATCCACCTTTGGGGTTATTTTTGACCCTG TGAAACAGCAATTTGACTGGAACCAATTTAGAGCCTTTGCCAGGCTTGACAAAAAATCTGATGAGAGTTTGGAGAAATACTTCAGTTGTT TTGTGGCCATGTGTAGGCGAGTATGTCGAATGCCCGTCAAGCCAGATGATGAACCGCCCGACCTCTCCTCCATAATTGAGCCGATCACAG AGGAGCGAGCCTCTCGAACTCTGTACCGCATTGAGCTGCTACGGAAGATCCGCGAGCAGGTTCTCCATCACCCCCAGCTGGGAGAGAGGC TTAAGCTCTGCCAGCCAAGCTTGGATCTGCCAGAGTGGTGGGAGTGTGGACGGCATGACCGAGACTTGCTGGTTGGTGCTGCTAAACACG GGGTCAGTCGGACGGATTATCACATCCTCAATGACCCTGAGTTATCCTTCTTGGATGCACATAAAAACTTTGCTCAAAACAGAGGGGCAG GTAATACATCTTCCTTGAACCCACTGGCAGTTGGATTTGTCCAGACTCCTCCAGTCATCTCATCTGCTCATATTCAAGATGAGAGGGTAC TGGAACAAGCCGAAGGCAAAGTGGAGGAGCCTGAAAACCCAGCTGCCAAGGAGAAATGTGAGGGCAAAGAAGAGGAAGAAGAAACCGATG GCAGCGGGAAGGAGAGCAAGCAGGAATGTGAGGCAGAGGCCAGCTCTGTGAAAAATGAACTGAAAGGTGTTGAGGTCGGCGCAGACACTG GGTCCAAATCTATTTCAGAGAAAGGTTCCGAAGAGGATGAAGAGGAAAAGCTGGAGGATGACGATAAGTCGGAAGAGTCTTCCCAGCCCG AAGCAGGAGCTGTCTCTAGAGGGAAGAATTTTGATGAAGAAAGCAATGCTTCCATGAGCACTGCTAGAGATGAAACCCGAGATGGATTCT ACATGGAGGACGGAGATCCTTCAGTAGCTCAGCTCCTTCATGAAAGAACATTTGCCTTCTCGTTTTGGCCTAAGGATAGAGTAATGATAA ACCGCTTAGACAACATCTGTGAAGCAGTGTTGAAAGGCAAATGGCCAGTAAATAGGCGCCAGATGTTTGATTTCCAAGGCCTCATCCCAG GTTACACACCCACCACAGTGGACAGCCCCTTGCAGAAGAGGAGCTTTGCTGAGCTCTCCATGGTCGGCCAAGCCAGCATTAGTGGGAGTG AGGACATCACTACGTCTCCTCAGTTGTCAAAGGAAGATGCCCTCAACCTCTCTGTCCCTCGCCAGCGGAGGAGGAGGAGGAGAAAAATCG AAATTGAGGCCGAAAGAGCTGCCAAGAGGCGAAATCTCATGGAGATGGTTGCCCAGCTTCGAGAGTCTCAGGTGGTCTCAGAAAATGGAC AAGAAAAAGTTGTAGATTTATCAAAGGCCTCAAGAGAGGCAACAAGCTCTACCTCAAATTTTTCATCTCTTTCTTCAAAGTTTATCTTGC CTAATGTCTCAACACCAGTGTCTGATGCCTTTAAGACTCAAATGGAACTGCTCCAAGCAGGCCTTTCGCGCACACCCACAAGGCATCTCC TTAATGGCTCCCTAGTGGATGGAGAGCCTCCCATGAAGAGGAGGCGGGGAAGGAGGAAAAATGTGGAGGGACTTGATCTGCTTTTCATGA GCCACAAACGGACGTCATTGAGTGCAGAGGATGCTGAGGTGACCAAAGCTTTTGAAGAAGATATAGAGACCCCACCAACAAGAAACATTC CTTCTCCCGGACAGCTGGACCCAGACACACGGATCCCTGTTATCAATCTTGAAGATGGGACTAGGCTGGTGGGGGAAGATGCTCCTAAAA ATAAGGATTTAGTTGAATGGCTGAAGCTGCACCCTACTTACACTGTTGATATGCCAAGTTATGTACCAAAGAATGCAGATGTGCTGTTTT CCTCATTTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGC CTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTG AATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTG TAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCA CGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCC AGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCC TGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCA CTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTG AGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGC TAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGC TGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTA AAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGG >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000524602_chr8_61693559_+_1295nt ATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTGCAGAAGTTCGTGCAAACAAA GTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGAAACCGAAACAGAAAC GACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGCCTGTTGTCAATAAACGAAATGGGAAGA AGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTGAATTTGCAGTTGCTCCAGACTGGACTG ATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTGTAGTGCGGGGAGAGGGAGCGAGCAGAA GAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCACGTCAGGGATCAACCCTTTGCTGGTGA ACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCCAGCTGGCAGGCCTCATGGGCTTCCCTC CAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCCTGATGCTGCCAGGAATGGCGGGCCTGC CCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCACTACTGCTTCTAGTCAAGGAGAACCGG AAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTGAGAAAAGCACAGATGCTGTTTCGGCTG CTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGCTAGCCTTCAACCCTTTCCTCCTGTCCA CAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGCTGCCTGGGTTCCCAGCATTGGCAGGAC TTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTAAAGATGGAGAGACCCTTGAAGGCAGCG ATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGGGTGAAGAGCTAGACTCACTTGATGGGG >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000525508_chr8_61693559_+_1865nt ATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCCAAGGCTGCAGAAGTTCGTGCAAACAAA GTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGGATATGACTCAGGTTAGTGGACCGAATG CTCAGCTAGTGAAGAGTGATGATTACCTGCCATCAATAGAACAGCAGCCACAACAAAAGAAGAAGAAAAAGAAAAACAACCACATTGTAG CAGAGGATCCCAGTAAAGGTTTTGGTAAAGATGACTTCCCTGGTGGGGTAGATAACCAAGAACTAAATAGGAACTCACTGGATGGGTCCC AAGAAGAAAAAAAGAAAAAGAAAAGGTCAAAGGCAAAAAAAGACCCGAAGGAACCGAAAGAACCCAAGGAGAAAAAAGAGCCCAAGGAAC CCAAGACCCCGAAAGCCCCTAAGATTCCCAAAGAGCCAAAGGAAAAGAAAGCAAAAACTGCCACGCCAAAACCCAAATCCAGCAAAAAGT CAAGTAATAAGAAACCTGACTCAGAAGCAAGTGCTTTGAAGAAAAAGGTCAACAAGGGAAAAACAGAAGGTTCTGAAAATTCAGACTTAG ACAAAACACCCCCACCATCTCCTCCTCCTGAAGAAGATGAGGACCCAGGTGTTCAGAAGAGACGGTCCAGCAGACAGGTGAAGAGAAAGC GCTACACTGAAGACCTGGAGTTCAAGATTTCTGATGAGGAGGCAGATGATGCAGATGCTGCTGGGAGGGATTCCCCCTCCAACACCTCCC AGTCAGAACAGCAGGAATCTGTTGATGCAGAAGGCCCAGTGGTAGAAAAAATTATGAGCAGTCGTTCAGTAAAAAAGCAGAAGGAATCTG GAGAGGAGGTAGAAATTGAGGAATTCTATGTGAAATACAAAAACTTCTCTTATCTTCATTGTCAGTGGGCATCTATAGAAGATCTGGAAA AAGATAAGAGAATTCAGCAAAAAATTAAACGATTTAAGGCAAAGCAGGGCCAGAACAAGTTCCTTTCAGAGATTGAGGATGAGCTTTTTA ATCCAGATTATGTGGAGGTTGACCGGATAATGGACTTTGCACGTAGCACAGATGACCGGGGAGAGCCTGTGACTCACTATCTGGTGAAGT GGTGTTCACTTCCTTATGAAGACAGCACGTGGGAGCGGAGGCAGGACATAGATCAAGCAAAGATCGAGGAGTTTGAGAAACTAATGTCCA GGGAGCCGGAAACAGAGCGTGTGGAGCGACCTCCTGCTGATGATTGGAAGAAATCGGAGAGTTCCAGGGAGTATAAAAACAATAACAAAC TCAGGGAATACCAGTTGGAGGGAGTAAACTGGCTACTTTTCAATTGGTACAACATGCGAAACTGCATTTTAGCAGATGAAATGGGTTTGG GAAAAACTATCCAGTCCATTACATTTCTCTATGAGATATATTTGAAAGGAATCCATGGCCCTTTTTTAGTAATTGCCCCATTGTCCACAA TCCCCAACTGGGAAAGGGAATTCCGAACCTGGACAGAGTTGAACGTGGTTGTGTATCATGGGAGTCAAGCTAGTCGTCGGACCATTCAGT TGTATGAAATGTACTTCAAAGATCCCCAGGGTCGAGTGATAAAGGGGTCCTATAAGTTTCATGCCATCATCACTACATTTGAGATGATTT TGACTGATTGTCCTGAGCTGCGGAATATTCCATGGCGCTGTGTAGTCATTGATGAAGCCCACAGGCTGAAGAACAGGAACTGCAAGCTGT |
| * Fusion transcript sequences (Full-length transcript). |
| >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000423902_chr8_61693559_+_8622nt 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 >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000524602_chr8_61693559_+_2043nt ATTCGCGAGGTAAGGCCGCCCTCGCGTTGTTTGGTCTCAGGCTGCAGACCAGGTCAGGCGACTCTTGCAGTTTCTCCAGCTTGCCTGGTG CGTGCTGGTGTCTCGCCGCTTGGTCCTCTCCTGTTCTTCGGCCCCCGGTTGCCAGATTGCTTTTCTTCCAGGCCTCAACCAGATTTGTTG AAAGACATTCAAGATTACGAAGTTTAGATGACCAAAATGGATATCCGAGGTGCTGTGGATGCTGCTGTCCCCACCAATATTATTGCTGCC AAGGCTGCAGAAGTTCGTGCAAACAAAGTCAACTGGCAATCCTATCTTCACATTCCCCGTCGGAGCCCTTTCTAGAGAAACCAGTGCCGG ATATGACTCAGAAACCGAAACAGAAACGACATAGATGTCGAAACCCTAATAAATTGGATATAAACACTTTGACAGGAGAAGAAAGGGTGC CTGTTGTCAATAAACGAAATGGGAAGAAGATGGGTGGAGCTATGGCGCCTCCAATGAAGGATCTACCCAGGTGGCTGGAAGAAAATCCTG AATTTGCAGTTGCTCCAGACTGGACTGATATAGTTAAGCAGTCTGGTTTTGTTCCTGAGTCGATGTTTGACCGCCTTCTCACTGGGCCTG TAGTGCGGGGAGAGGGAGCGAGCAGAAGAGGAAGAAGGCCCAAAAGTGAGATCGCCAGAGCAGCCGCGGCCGCCGCTGCTGTGGCCTCCA CGTCAGGGATCAACCCTTTGCTGGTGAACAGCCTGTTTGCTGGAATGGACCTGACGAGCCTTCAGAATCTCCAGAATCTCCAGTCGCTCC AGCTGGCAGGCCTCATGGGCTTCCCTCCAGGACTGGCAACAGCTGCCACCGCCGGAGGCGATGCGAAGAACCCTGCTGCTGTGCTGCCCC TGATGCTGCCAGGAATGGCGGGCCTGCCCAACGTGTTTGGCTTGGGCGGGCTGTTGAATAACCCTCTGTCAGCTGCTACTGGAAACACCA CTACTGCTTCTAGTCAAGGAGAACCGGAAGACAGCACTTCAAAAGGAGAGGAGAAAGGAAATGAGAATGAAGACGAGAACAAAGACTCTG AGAAAAGCACAGATGCTGTTTCGGCTGCTGACTCTGCGAATGGATCTGTTGGTGCTGCTACTGCCCCGGCTGGATTGCCCTCAAACCCGC TAGCCTTCAACCCTTTCCTCCTGTCCACAATGGCCCCGGGCCTCTTCTACCCATCCATGTTTCTACCTCCAGGACTGGGGGGATTGACGC TGCCTGGGTTCCCAGCATTGGCAGGACTTCAGAATGCCGTGGGCTCCAGCGAAGAAAAGGCTGCTGACAAGGCTGAGGGAGGACCCTTTA AAGATGGAGAGACCCTTGAAGGCAGCGATGCCGAGGAGAGCCTGGATAAGACTGCAGAGTCCTCCCTCTTAGAAGACGAAATAGCACAGG GTGAAGAGCTAGACTCACTTGATGGGGGGGATGAAATAGAAAACAATGAAAATGATGAATAACCAGTACCAGTTCCAGTTCAAGTGTTTA AAACTTTTGACAAGTGGTAGTCCTACTGTTTACACTCACAGTTAATGTTCATACCTAGTTTTATAAGCTGTTCTGTAACATAGTGTAGCA AAAAAAAAAGTTCAAGTCATGTTATACAGGTGTGTCAAAAGGTATCTTGGTCATTAAGTATTGTGCAGTGCATTATTTATTATCCCTAGG AGAGATGAAATTTGAGAGGTGATCATGTCTTTTTAAGGAAACTTACATAATGCTCTGCTTTTTTTTTTTCTCTTGGTACCATTGGTATTA TAATAAAGAGCAATTTGTAACTGAGTGGCACTAATGGAAGAAAGTGCTGCTCAAAGGAAGTATGAAGTTATATATTTAATTTTTTAATTT TAATTTTTAATTTTTTTGCTGTGAAGGTCAAGCTGAAATTTACCATACATATCATACTTGCTCATTTGTTTCCCTTTTTGACTGTATGGG >In-frame_ATP6V1H_ENST00000396774_chr8_54754138_-_CHD7_ENST00000525508_chr8_61693559_+_3432nt 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 |
Top |
FusionGenePPI 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 |
| ATP6V1H | ATP6V1E1, ATP6V1B1, ATP6V1D, ATP6V1F, ATP6V1B2, RAB11B, RMDN3, VDAC2, HNRNPUL1, UBE2N, ZMPSTE24, DDX28, VDAC3, PROCR, ZFAND5, ATP5F1, UBQLN1, SORBS3, ABCC1, EEF2, USP3, EGFR, SOX9, TANK, GMPPB, PDXDC1, USP47, WDR44, UNK, C6orf211, ATP6V0D1, ATP6V1A, MRPL1, CDC42, HSD17B10, STMN1, MED20, RAB2A, GOLT1B, ARMC6, NF2, FAF2, MAS1, TES | CHD7 | CTCF, TERF2, SMARCA4, SMARCC2, SMARCC1, SMARCE1, PBRM1, BRD7, ARID2, SOX2, MTA2, MTA1, GATAD2A, SALL3, ARID1A, ZBTB20, OLIG1, VARS, SIRT7, CHD8, NES, SNW1, POU5F1, WDR5, ASH2L, RBBP5, AR, TRIM25 |
| - 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 |
Top |
RelatedDrugs for ATP6V1H_CHD7 |
| Drugs targeting genes involved in this fusion gene. (DrugBank Version 5.1.0 2018-04-02) |
| Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Top |
RelatedDiseases for ATP6V1H_CHD7 |
| Diseases associated with fusion partners. (DisGeNet 4.0) |
| Partner | Gene | Disease ID | Disease name | # pubmeds | Source |
| Tgene | CHD7 | C0265354 | CHARGE Syndrome | 14 | CTD_human;ORPHANET;UNIPROT |
| Tgene | CHD7 | C3552553 | HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA | 4 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|