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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
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Fusion gene:ATP6V1H-CHD7 (FusionGDB2 ID:HG51606TG55636)

Fusion Gene Summary for ATP6V1H-CHD7

Fusion gene summary

Fusion gene information	Fusion gene name: ATP6V1H-CHD7
	Fusion gene ID: hg51606tg55636
		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	('ATP6V1H')('CHD7') 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	.	.
	Ensembl transtripts involved in fusion gene	ENST00000355221, ENST00000359530, ENST00000396774, ENST00000520188, ENST00000523899,
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 CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. ATP6V1H-CHD7 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF. 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.

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.

Fusion gene information
* 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.

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.

Main function of each fusion partner protein. (from UniProt)

Hgene	Tgene
.	.
FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.	FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {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
download page

* Minus value of BPloci means that the break pointn is located before the CDS.

- In-frame and retained protein feature among the 13 regional features.

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

2401_2431

555

2998.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

2401_2431

555

949.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

2401_2431

555

1139.0

Coiled coil

Ontology_term=ECO:0000255

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

1939_1945

555

2998.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

2165_2258

555

2998.0

Compositional bias

Note=Glu-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

2398_2405

555

2998.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

2726_2736

555

2998.0

Compositional bias

Note=Poly-Ala

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

597_718

555

2998.0

Compositional bias

Note=Lys-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

1939_1945

555

949.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

2165_2258

555

949.0

Compositional bias

Note=Glu-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

2398_2405

555

949.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

2726_2736

555

949.0

Compositional bias

Note=Poly-Ala

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

597_718

555

949.0

Compositional bias

Note=Lys-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

1939_1945

555

1139.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

2165_2258

555

1139.0

Compositional bias

Note=Glu-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

2398_2405

555

1139.0

Compositional bias

Note=Poly-Arg

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

2726_2736

555

1139.0

Compositional bias

Note=Poly-Ala

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

597_718

555

1139.0

Compositional bias

Note=Lys-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

1294_1464

555

2998.0

Domain

Helicase C-terminal

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

800_867

555

2998.0

Domain

Chromo 1

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

882_947

555

2998.0

Domain

Chromo 2

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

980_1154

555

2998.0

Domain

Helicase ATP-binding

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

1294_1464

555

949.0

Domain

Helicase C-terminal

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

800_867

555

949.0

Domain

Chromo 1

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

882_947

555

949.0

Domain

Chromo 2

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

980_1154

555

949.0

Domain

Helicase ATP-binding

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

1294_1464

555

1139.0

Domain

Helicase C-terminal

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

800_867

555

1139.0

Domain

Chromo 1

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

882_947

555

1139.0

Domain

Chromo 2

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

980_1154

555

1139.0

Domain

Helicase ATP-binding

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

1105_1108

555

2998.0

Motif

Note=DEAH box

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

1105_1108

555

949.0

Motif

Note=DEAH box

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

1105_1108

555

1139.0

Motif

Note=DEAH box

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

993_1000

555

2998.0

Nucleotide binding

ATP

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

993_1000

555

949.0

Nucleotide binding

ATP

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

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

151_222

555

2998.0

Compositional bias

Note=Gln-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000423902

383_568

555

2998.0

Compositional bias

Note=Pro-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

151_222

555

949.0

Compositional bias

Note=Gln-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000524602

383_568

555

949.0

Compositional bias

Note=Pro-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

151_222

555

1139.0

Compositional bias

Note=Gln-rich

Tgene

CHD7

chr8:54754138

chr8:61693559

ENST00000525508

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
ChiPPI page.

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

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Drug activity

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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
Tgene		C0265354	CHARGE Syndrome	24	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
Tgene		C3552553	HYPOGONADOTROPIC HYPOGONADISM 5 WITH OR WITHOUT ANOSMIA	5	GENOMICS_ENGLAND;UNIPROT
Tgene		C2936502	Familial CHARGE Syndrome	2	CTD_human
Tgene		C0021051	Immunologic Deficiency Syndromes	1	GENOMICS_ENGLAND
Tgene		C0033578	Prostatic Neoplasms	1	CTD_human
Tgene		C0152423	Congenital small ears	1	GENOMICS_ENGLAND
Tgene		C0162809	Kallmann Syndrome	1	CTD_human;ORPHANET
Tgene		C0342384	Idiopathic hypogonadotropic hypogonadism	1	GENOMICS_ENGLAND
Tgene		C0376358	Malignant neoplasm of prostate	1	CTD_human
Tgene		C1384666	hearing impairment	1	GENOMICS_ENGLAND

Fusion Gene Studies in Kim Lab

Fusion gene:ATP6V1H-CHD7 (FusionGDB2 ID:HG51606TG55636)

Fusion Gene Summary for ATP6V1H-CHD7

Fusion Gene ORF analysis for ATP6V1H-CHD7

Fusion Genomic Features for ATP6V1H-CHD7

Fusion Protein Features for ATP6V1H-CHD7

Fusion Gene Sequence for ATP6V1H-CHD7

Fusion Gene PPI Analysis for ATP6V1H-CHD7

Related Drugs for ATP6V1H-CHD7

Related Diseases for ATP6V1H-CHD7

Fusion Gene Studies
in Kim Lab