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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:GJA1-ASH2L (FusionGDB2 ID:33164)

Fusion Gene Summary for GJA1-ASH2L

check button Fusion gene summary
Fusion gene informationFusion gene name: GJA1-ASH2L
Fusion gene ID: 33164
HgeneTgene
Gene symbol

GJA1

ASH2L

Gene ID

2697

9070

Gene namegap junction protein alpha 1ASH2 like, histone lysine methyltransferase complex subunit
SynonymsAVSD3|CMDR|CX43|EKVP|EKVP3|GJAL|HLHS1|HSS|ODDD|PPKCAASH2|ASH2L1|ASH2L2|Bre2
Cytomap

6q22.31

8p11.23

Type of geneprotein-codingprotein-coding
Descriptiongap junction alpha-1 proteinconnexin-43gap junction 43 kDa heart proteingap junction protein, alpha 1, 43kDaset1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-like
Modification date2020032920200313
UniProtAcc

P17302

Q9UBL3

Ensembl transtripts involved in fusion geneENST00000282561, ENST00000524263, 
ENST00000250635, ENST00000343823, 
ENST00000428278, ENST00000521652, 
ENST00000545394, 
Fusion gene scores* DoF score5 X 4 X 2=409 X 9 X 6=486
# samples 59
** MAII scorelog2(5/40*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(9/486*10)=-2.43295940727611
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GJA1 [Title/Abstract] AND ASH2L [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGJA1(121768616)-ASH2L(37972483), # samples:1
Anticipated loss of major functional domain due to fusion event.
* DoF score (Degree of Frequency) = # partners X # break points X # cancer types
** MAII score (Major Active Isofusion Index) = log2(# samples/DoF score*10)

check button Gene ontology of each fusion partner gene with evidence of Inferred from Direct Assay (IDA) from Entrez
PartnerGeneGO IDGO termPubMed ID
HgeneGJA1

GO:0007165

signal transduction

1696265

HgeneGJA1

GO:0007267

cell-cell signaling

1696265

HgeneGJA1

GO:0010644

cell communication by electrical coupling

1696265|16790700|23348765

HgeneGJA1

GO:0034220

ion transmembrane transport

1696265

TgeneASH2L

GO:0006974

cellular response to DNA damage stimulus

17500065

TgeneASH2L

GO:0043627

response to estrogen

16603732

TgeneASH2L

GO:0051568

histone H3-K4 methylation

17355966|19556245


check buttonFusion gene breakpoints across GJA1 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across ASH2L (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* All genome coordinats were lifted-over on hg19.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ABI045629GJA1chr6

121768616

-ASH2Lchr8

37972483

+


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Fusion Gene ORF analysis for GJA1-ASH2L

check button Open reading frame (ORF) analsis of fusion genes based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.
ORFHenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrand
5CDS-3UTRENST00000282561ENST00000524263GJA1chr6

121768616

-ASH2Lchr8

37972483

+
In-frameENST00000282561ENST00000250635GJA1chr6

121768616

-ASH2Lchr8

37972483

+
In-frameENST00000282561ENST00000343823GJA1chr6

121768616

-ASH2Lchr8

37972483

+
In-frameENST00000282561ENST00000428278GJA1chr6

121768616

-ASH2Lchr8

37972483

+
In-frameENST00000282561ENST00000521652GJA1chr6

121768616

-ASH2Lchr8

37972483

+
In-frameENST00000282561ENST00000545394GJA1chr6

121768616

-ASH2Lchr8

37972483

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)		BP loci
(transcript)		Predicted start
(transcript)		Predicted stop
(transcript)		Seq length
(amino acids)
ENST00000282561GJA1chr6121768616-ENST00000343823ASH2Lchr837972483+4437239824243542372
ENST00000282561GJA1chr6121768616-ENST00000250635ASH2Lchr837972483+4080239824243443339
ENST00000282561GJA1chr6121768616-ENST00000545394ASH2Lchr837972483+3995239824243542372
ENST00000282561GJA1chr6121768616-ENST00000428278ASH2Lchr837972483+4175239824243542372
ENST00000282561GJA1chr6121768616-ENST00000521652ASH2Lchr837972483+4076239824243443339

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000282561ENST00000343823GJA1chr6121768616-ASH2Lchr837972483+0.0009490730.9990509
ENST00000282561ENST00000250635GJA1chr6121768616-ASH2Lchr837972483+0.0022178410.9977822
ENST00000282561ENST00000545394GJA1chr6121768616-ASH2Lchr837972483+0.0006569340.9993431
ENST00000282561ENST00000428278GJA1chr6121768616-ASH2Lchr837972483+0.0007540240.999246
ENST00000282561ENST00000521652GJA1chr6121768616-ASH2Lchr837972483+0.0016950640.99830496

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Fusion Genomic Features for GJA1-ASH2L


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.

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Fusion Protein Features for GJA1-ASH2L


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr6:121768616/chr8:37972483)
- 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.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
GJA1

P17302

ASH2L

Q9UBL3

FUNCTION: Gap junction protein that acts as a regulator of bladder capacity. A gap junction consists of a cluster of closely packed pairs of transmembrane channels, the connexons, through which materials of low MW diffuse from one cell to a neighboring cell. May play a critical role in the physiology of hearing by participating in the recycling of potassium to the cochlear endolymph. Negative regulator of bladder functional capacity: acts by enhancing intercellular electrical and chemical transmission, thus sensitizing bladder muscles to cholinergic neural stimuli and causing them to contract (By similarity). May play a role in cell growth inhibition through the regulation of NOV expression and localization. Plays an essential role in gap junction communication in the ventricles (By similarity). {ECO:0000250|UniProtKB:P08050, ECO:0000250|UniProtKB:P23242}.FUNCTION: Transcriptional regulator (PubMed:12670868). Component or associated component of some histone methyltransferase complexes which regulates transcription through recruitment of those complexes to gene promoters (PubMed:19131338). Component of the Set1/Ash2 histone methyltransferase (HMT) complex, a complex that specifically methylates 'Lys-4' of histone H3, but not if the neighboring 'Lys-9' residue is already methylated (PubMed:19556245). As part of the MLL1/MLL complex it is involved in methylation and dimethylation at 'Lys-4' of histone H3 (PubMed:19556245). May play a role in hematopoiesis (PubMed:12670868). In association with RBBP5 and WDR5, stimulates the histone methyltransferase activities of KMT2A, KMT2B, KMT2C, KMT2D, SETD1A and SETD1B (PubMed:21220120, PubMed:22266653). {ECO:0000269|PubMed:12670868, ECO:0000269|PubMed:19131338, ECO:0000269|PubMed:19556245, ECO:0000269|PubMed:21220120, ECO:0000269|PubMed:22266653}.

check buttonRetention analysis result of each fusion partner protein across 39 protein features of UniProt such as six molecule processing features, 13 region features, four site features, six amino acid modification features, two natural variation features, five experimental info features, and 3 secondary structure features. Here, because of limited space for viewing, we only show the protein feature retention information belong to the 13 regional features. All retention annotation result can be downloaded at

download page


* Minus value of BPloci means that the break pointn is located before the CDS.
- In-frame and retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneASH2Lchr6:121768616chr8:37972483ENST00000250635015360_5830502.0DomainB30.2/SPRY
TgeneASH2Lchr6:121768616chr8:37972483ENST00000343823016360_5830629.0DomainB30.2/SPRY
TgeneASH2Lchr6:121768616chr8:37972483ENST00000428278016360_5830535.0DomainB30.2/SPRY
TgeneASH2Lchr6:121768616chr8:37972483ENST00000521652015360_5830502.0DomainB30.2/SPRY
TgeneASH2Lchr6:121768616chr8:37972483ENST0000025063501567_1770502.0RegionNote=DNA-binding
TgeneASH2Lchr6:121768616chr8:37972483ENST0000034382301667_1770629.0RegionNote=DNA-binding
TgeneASH2Lchr6:121768616chr8:37972483ENST0000042827801667_1770535.0RegionNote=DNA-binding
TgeneASH2Lchr6:121768616chr8:37972483ENST0000052165201567_1770502.0RegionNote=DNA-binding
TgeneASH2Lchr6:121768616chr8:37972483ENST00000250635015117_1500502.0Zinc fingerNote=C4-type
TgeneASH2Lchr6:121768616chr8:37972483ENST000002506350151_660502.0Zinc fingerNote=PHD-type%3B atypical
TgeneASH2Lchr6:121768616chr8:37972483ENST00000343823016117_1500629.0Zinc fingerNote=C4-type
TgeneASH2Lchr6:121768616chr8:37972483ENST000003438230161_660629.0Zinc fingerNote=PHD-type%3B atypical
TgeneASH2Lchr6:121768616chr8:37972483ENST00000428278016117_1500535.0Zinc fingerNote=C4-type
TgeneASH2Lchr6:121768616chr8:37972483ENST000004282780161_660535.0Zinc fingerNote=PHD-type%3B atypical
TgeneASH2Lchr6:121768616chr8:37972483ENST00000521652015117_1500502.0Zinc fingerNote=C4-type
TgeneASH2Lchr6:121768616chr8:37972483ENST000005216520151_660502.0Zinc fingerNote=PHD-type%3B atypical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12177_2070383.0Topological domainExtracellular
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12229_3820383.0Topological domainCytoplasmic
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-122_230383.0Topological domainCytoplasmic
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-1245_760383.0Topological domainExtracellular
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-1298_1550383.0Topological domainCytoplasmic
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12156_1760383.0TransmembraneHelical
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12208_2280383.0TransmembraneHelical
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-1224_440383.0TransmembraneHelical
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-1277_970383.0TransmembraneHelical


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Fusion Gene Sequence for GJA1-ASH2L


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>33164_33164_1_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000250635_length(transcript)=4080nt_BP=2398nt
GCGTGAGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATC
CTCCAAGGAGTTCAATCACTTGGCGTGACTTCACTACTTTTAAGCAAAAGACTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCT
GGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAG
TGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCTAT
GTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACTGGGC
TAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAA
CCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGC
CAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATCAAGATTCCACTCAATTGTGGAGAAGAAAAAAGGT
GCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAGACAT
TAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGG
ATTCAAAGAACTTAGATTATAAATAAGAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTT
CTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAGAAACTGAAATAATTCTGGCCAGGAATAAATACTT
CCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGCACTT
TGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAG
ACAAGGCCCACAGAATAAGATTTTCCATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTT
TCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTAAGACAGTTGGGATGTCACTTAACATTTTTTTTTT
GAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTATTGGT
ACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGT
GGTGTGGGCCAATATGGTGTTTACATTATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGT
GTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTTTTTTAGGATATAGCAGTAATGCTATTACTGAAAT
GAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGAGACT
TAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGT
AATTCAGAACTTGTATTCTATTATGAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGC
AAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTATATGTTGAAGACATCTACCAGTTTCTCCAAATGCC
TTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTTTTGT
ACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAG
ATCATGTGTTCTGGAGAGTGTTCTTTATTCAATAAAGTTTTAATTTAGTATAAACATAAAGAAGATTACCCCAAATTTGGACTTTTGGAT
CAGGACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATGGGGGAATTGCA
GCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAGTGACCCT
TTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCT
GATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTAT
GAACGGGTTTTGTTAGCCCTACATGATCGAGCTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCT
ATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTG
GGTTGGTCCCAGCCCCTAGGAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTC
CACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACA
GCCAAGTCATTGCCAGACACATACAAAGATAAGGCTTTGATAAAATTCAAGAGTTATTTGTATTTTGAGGAAAAAGACTTTGTGGATAAA
GCAGAGAAGAGCCTGAAGCAGACTCCCCATAGTGAGGTTTCCATTAACTTTGGACCATGCTTCAAGTATCCTCCGAAGGATCTCACTTAC
CGCCCTATGAGTGACATGGGCTGGGGCGCCGTGGTAGAGCACACCCTGGCTGACGTCTTGTATCACGTGGAGACAGAAGTGGATGGGAGG
CGCAGTCCCCCATGGGAACCCTGACCAGGTCCCTCTTTTCTGTCAAGGACTTTCTGGGAATAATACTGGGGGTTTTGTTTTTGTTTTTGA
ACTGTCTCAAATGTTCTCCCAAAGATGCTAAAAACACAGCCTCTCCTTTTAGCAAGTTAAAAGGCTGGGTAGGACTGCGGGAGACTGCCT
GCCTTTCACCATTTTCTCCCCACTTCCAGTGACTGCTCTTATTTTGTGTACCATAAGCCAACAACCGCTGACTCCAGGATTGCATAAGCC
CCCTGTGAAATCGGTGCTGTACTGCATACCCTGCCAGCTGTGACTTGTTATCCTACTATATTTTCTAAGGAGTGAATAATATTGTCCGAG
TAACTAACTTATTTAAAAGACATTTCCTTCTGTGGGCATTGACTGTATCCCACCTGTTTTCCAAGGAAATGGTAACCTGTTTCTGAGAAC
ACCTGAAATCAATGGCTATACATTCCAAACCAATCTAAACGCTATTTCCTTTTGGTGTGGGTTTGGTTTTGTTCATTTTGAAATACACTT
TTGAACACTGAGATCCGTAAAACTACTAGATCTCTGGAAGTGTAATTGTGAAAGAAACTTGCTTGCAGCTTTAACAAAATGAGAAACTTC

>33164_33164_1_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000250635_length(amino acids)=339AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV

--------------------------------------------------------------
>33164_33164_2_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000343823_length(transcript)=4437nt_BP=2398nt
GCGTGAGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATC
CTCCAAGGAGTTCAATCACTTGGCGTGACTTCACTACTTTTAAGCAAAAGACTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCT
GGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAG
TGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCTAT
GTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACTGGGC
TAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAA
CCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGC
CAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATCAAGATTCCACTCAATTGTGGAGAAGAAAAAAGGT
GCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAGACAT
TAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGG
ATTCAAAGAACTTAGATTATAAATAAGAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTT
CTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAGAAACTGAAATAATTCTGGCCAGGAATAAATACTT
CCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGCACTT
TGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAG
ACAAGGCCCACAGAATAAGATTTTCCATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTT
TCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTAAGACAGTTGGGATGTCACTTAACATTTTTTTTTT
GAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTATTGGT
ACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGT
GGTGTGGGCCAATATGGTGTTTACATTATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGT
GTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTTTTTTAGGATATAGCAGTAATGCTATTACTGAAAT
GAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGAGACT
TAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGT
AATTCAGAACTTGTATTCTATTATGAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGC
AAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTATATGTTGAAGACATCTACCAGTTTCTCCAAATGCC
TTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTTTTGT
ACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAG
ATCATGTGTTCTGGAGAGTGTTCTTTATTCAATAAAGTTTTAATTTAGTATAAACATAAAGAAGATTACCCCAAATTTGGACTTTTGGAT
CAGGACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATGGGGGAATTGCA
GCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAGTGACCCT
TTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCT
GATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTAT
GAACGGGTTTTGTTAGCCCTACATGATCGAGCTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCT
ATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTG
GGTTGGTCCCAGCCCCTAGGAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTC
CACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACA
GCCAAGTCATTGCCAGACACATACAAAGATAAGGCTTTGATAAAATTCAAGAGTTATTTGTATTTTGAGGAAAAAGACTTTGTGGATAAA
GCAGAGAAGAGCCTGAAGCAGACTCCCCATAGTGAGATAATATTTTATAAAAATGGTGTCAATCAAGGTGTGGCTTACAAAGATATTTTT
GAGGGGGTTTACTTCCCAGCCATCTCACTGTACAAGAGCTGCACGGTTTCCATTAACTTTGGACCATGCTTCAAGTATCCTCCGAAGGAT
CTCACTTACCGCCCTATGAGTGACATGGGCTGGGGCGCCGTGGTAGAGCACACCCTGGCTGACGTCTTGTATCACGTGGAGACAGAAGTG
GATGGGAGGCGCAGTCCCCCATGGGAACCCTGACCAGGTCCCTCTTTTCTGTCAAGGACTTTCTGGGAATAATACTGGGGGTTTTGTTTT
TGTTTTTGAACTGTCTCAAATGTTCTCCCAAAGATGCTAAAAACACAGCCTCTCCTTTTAGCAAGTTAAAAGGCTGGGTAGGACTGCGGG
AGACTGCCTGCCTTTCACCATTTTCTCCCCACTTCCAGTGACTGCTCTTATTTTGTGTACCATAAGCCAACAACCGCTGACTCCAGGATT
GCATAAGCCCCCTGTGAAATCGGTGCTGTACTGCATACCCTGCCAGCTGTGACTTGTTATCCTACTATATTTTCTAAGGAGTGAATAATA
TTGTCCGAGTAACTAACTTATTTAAAAGACATTTCCTTCTGTGGGCATTGACTGTATCCCACCTGTTTTCCAAGGAAATGGTAACCTGTT
TCTGAGAACACCTGAAATCAATGGCTATACATTCCAAACCAATCTAAACGCTATTTCCTTTTGGTGTGGGTTTGGTTTTGTTCATTTTGA
AATACACTTTTGAACACTGAGATCCGTAAAACTACTAGATCTCTGGAAGTGTAATTGTGAAAGAAACTTGCTTGCAGCTTTAACAAAATG
AGAAACTTCCCAAATAAAACTTGTTTTGAAGTTTATGTGACACTTTGCTTCCCTTCAGATTGGGTGCCTCTTGGTGACAGTGTTCAGAAA
TGTAAGCAGCACGAGGAAGGGAGCTGGCACTGGGAGGAAGAGCCGGGTTTCTGAGTTGTGTTTTGGCTGCTTTCCTATTGCTCCCATTCT
TGCCAATCAGCCACCCCCTTTCCTGTGAAAATCTGCCACCTTGAGGAGAGGAACAAGAGTTTAAAAGGGCTAATGATCTCCCTCCCGGTC

>33164_33164_2_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000343823_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

--------------------------------------------------------------
>33164_33164_3_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000428278_length(transcript)=4175nt_BP=2398nt
GCGTGAGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATC
CTCCAAGGAGTTCAATCACTTGGCGTGACTTCACTACTTTTAAGCAAAAGACTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCT
GGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAG
TGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCTAT
GTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACTGGGC
TAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAA
CCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGC
CAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATCAAGATTCCACTCAATTGTGGAGAAGAAAAAAGGT
GCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAGACAT
TAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGG
ATTCAAAGAACTTAGATTATAAATAAGAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTT
CTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAGAAACTGAAATAATTCTGGCCAGGAATAAATACTT
CCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGCACTT
TGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAG
ACAAGGCCCACAGAATAAGATTTTCCATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTT
TCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTAAGACAGTTGGGATGTCACTTAACATTTTTTTTTT
GAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTATTGGT
ACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGT
GGTGTGGGCCAATATGGTGTTTACATTATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGT
GTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTTTTTTAGGATATAGCAGTAATGCTATTACTGAAAT
GAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGAGACT
TAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGT
AATTCAGAACTTGTATTCTATTATGAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGC
AAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTATATGTTGAAGACATCTACCAGTTTCTCCAAATGCC
TTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTTTTGT
ACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAG
ATCATGTGTTCTGGAGAGTGTTCTTTATTCAATAAAGTTTTAATTTAGTATAAACATAAAGAAGATTACCCCAAATTTGGACTTTTGGAT
CAGGACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATGGGGGAATTGCA
GCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAGTGACCCT
TTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCT
GATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTAT
GAACGGGTTTTGTTAGCCCTACATGATCGAGCTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCT
ATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTG
GGTTGGTCCCAGCCCCTAGGAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTC
CACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACA
GCCAAGTCATTGCCAGACACATACAAAGATAAGGCTTTGATAAAATTCAAGAGTTATTTGTATTTTGAGGAAAAAGACTTTGTGGATAAA
GCAGAGAAGAGCCTGAAGCAGACTCCCCATAGTGAGATAATATTTTATAAAAATGGTGTCAATCAAGGTGTGGCTTACAAAGATATTTTT
GAGGGGGTTTACTTCCCAGCCATCTCACTGTACAAGAGCTGCACGGTTTCCATTAACTTTGGACCATGCTTCAAGTATCCTCCGAAGGAT
CTCACTTACCGCCCTATGAGTGACATGGGCTGGGGCGCCGTGGTAGAGCACACCCTGGCTGACGTCTTGTATCACGTGGAGACAGAAGTG
GATGGGAGGCGCAGTCCCCCATGGGAACCCTGACCAGGTCCCTCTTTTCTGTCAAGGACTTTCTGGGAATAATACTGGGGGTTTTGTTTT
TGTTTTTGAACTGTCTCAAATGTTCTCCCAAAGATGCTAAAAACACAGCCTCTCCTTTTAGCAAGTTAAAAGGCTGGGTAGGACTGCGGG
AGACTGCCTGCCTTTCACCATTTTCTCCCCACTTCCAGTGACTGCTCTTATTTTGTGTACCATAAGCCAACAACCGCTGACTCCAGGATT
GCATAAGCCCCCTGTGAAATCGGTGCTGTACTGCATACCCTGCCAGCTGTGACTTGTTATCCTACTATATTTTCTAAGGAGTGAATAATA
TTGTCCGAGTAACTAACTTATTTAAAAGACATTTCCTTCTGTGGGCATTGACTGTATCCCACCTGTTTTCCAAGGAAATGGTAACCTGTT
TCTGAGAACACCTGAAATCAATGGCTATACATTCCAAACCAATCTAAACGCTATTTCCTTTTGGTGTGGGTTTGGTTTTGTTCATTTTGA
AATACACTTTTGAACACTGAGATCCGTAAAACTACTAGATCTCTGGAAGTGTAATTGTGAAAGAAACTTGCTTGCAGCTTTAACAAAATG

>33164_33164_3_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000428278_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

--------------------------------------------------------------
>33164_33164_4_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000521652_length(transcript)=4076nt_BP=2398nt
GCGTGAGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATC
CTCCAAGGAGTTCAATCACTTGGCGTGACTTCACTACTTTTAAGCAAAAGACTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCT
GGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAG
TGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCTAT
GTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACTGGGC
TAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAA
CCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGC
CAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATCAAGATTCCACTCAATTGTGGAGAAGAAAAAAGGT
GCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAGACAT
TAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGG
ATTCAAAGAACTTAGATTATAAATAAGAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTT
CTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAGAAACTGAAATAATTCTGGCCAGGAATAAATACTT
CCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGCACTT
TGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAG
ACAAGGCCCACAGAATAAGATTTTCCATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTT
TCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTAAGACAGTTGGGATGTCACTTAACATTTTTTTTTT
GAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTATTGGT
ACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGT
GGTGTGGGCCAATATGGTGTTTACATTATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGT
GTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTTTTTTAGGATATAGCAGTAATGCTATTACTGAAAT
GAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGAGACT
TAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGT
AATTCAGAACTTGTATTCTATTATGAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGC
AAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTATATGTTGAAGACATCTACCAGTTTCTCCAAATGCC
TTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTTTTGT
ACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAG
ATCATGTGTTCTGGAGAGTGTTCTTTATTCAATAAAGTTTTAATTTAGTATAAACATAAAGAAGATTACCCCAAATTTGGACTTTTGGAT
CAGGACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATGGGGGAATTGCA
GCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAGTGACCCT
TTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCT
GATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTAT
GAACGGGTTTTGTTAGCCCTACATGATCGAGCTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCT
ATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTG
GGTTGGTCCCAGCCCCTAGGAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTC
CACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACA
GCCAAGTCATTGCCAGACACATACAAAGATAAGGCTTTGATAAAATTCAAGAGTTATTTGTATTTTGAGGAAAAAGACTTTGTGGATAAA
GCAGAGAAGAGCCTGAAGCAGACTCCCCATAGTGAGGTTTCCATTAACTTTGGACCATGCTTCAAGTATCCTCCGAAGGATCTCACTTAC
CGCCCTATGAGTGACATGGGCTGGGGCGCCGTGGTAGAGCACACCCTGGCTGACGTCTTGTATCACGTGGAGACAGAAGTGGATGGGAGG
CGCAGTCCCCCATGGGAACCCTGACCAGGTCCCTCTTTTCTGTCAAGGACTTTCTGGGAATAATACTGGGGGTTTTGTTTTTGTTTTTGA
ACTGTCTCAAATGTTCTCCCAAAGATGCTAAAAACACAGCCTCTCCTTTTAGCAAGTTAAAAGGCTGGGTAGGACTGCGGGAGACTGCCT
GCCTTTCACCATTTTCTCCCCACTTCCAGTGACTGCTCTTATTTTGTGTACCATAAGCCAACAACCGCTGACTCCAGGATTGCATAAGCC
CCCTGTGAAATCGGTGCTGTACTGCATACCCTGCCAGCTGTGACTTGTTATCCTACTATATTTTCTAAGGAGTGAATAATATTGTCCGAG
TAACTAACTTATTTAAAAGACATTTCCTTCTGTGGGCATTGACTGTATCCCACCTGTTTTCCAAGGAAATGGTAACCTGTTTCTGAGAAC
ACCTGAAATCAATGGCTATACATTCCAAACCAATCTAAACGCTATTTCCTTTTGGTGTGGGTTTGGTTTTGTTCATTTTGAAATACACTT
TTGAACACTGAGATCCGTAAAACTACTAGATCTCTGGAAGTGTAATTGTGAAAGAAACTTGCTTGCAGCTTTAACAAAATGAGAAACTTC

>33164_33164_4_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000521652_length(amino acids)=339AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV

--------------------------------------------------------------
>33164_33164_5_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000545394_length(transcript)=3995nt_BP=2398nt
GCGTGAGGAAAGTACCAAACAGCAGCGGAGTTTTAAACTTTAAATAGACAGGTCTGAGTGCCTGAACTTGCCTTTTCATTTTACTTCATC
CTCCAAGGAGTTCAATCACTTGGCGTGACTTCACTACTTTTAAGCAAAAGACTTCATCATCTTCATGCTGGTGGTGTCCTTGGTGTCCCT
GGCCTTGAATATCATTGAACTCTTCTATGTTTTCTTCAAGGGCGTTAAGGATCGGGTTAAGGGAAAGAGCGACCCTTACCATGCGACCAG
TGGTGCGCTGAGCCCTGCCAAAGACTGTGGGTCTCAAAAATATGCTTATTTCAATGGCTGCTCCTCACCAACCGCTCCCCTCTCGCCTAT
GTCTCCTCCTGGGTACAAGCTGGTTACTGGCGACAGAAACAATTCTTCTTGCCGCAATTACAACAAGCAAGCAAGTGAGCAAAACTGGGC
TAATTACAGTGCAGAACAAAATCGAATGGGGCAGGCGGGAAGCACCATCTCTAACTCCCATGCACAGCCTTTTGATTTCCCCGATGATAA
CCAGAATTCTAAAAAACTAGCTGCTGGACATGAATTACAGCCACTAGCCATTGTGGACCAGCGACCTTCAAGCAGAGCCAGCAGTCGTGC
CAGCAGCAGACCTCGGCCTGATGACCTGGAGATCTAGATACAGGCTTGAAAGCATCAAGATTCCACTCAATTGTGGAGAAGAAAAAAGGT
GCTGTAGAAAGTGCACCAGGTGTTAATTTTGATCCGGTGGAGGTGGTACTCAACAGCCTTATTCATGAGGCTTAGAAAACACAAAGACAT
TAGAATACCTAGGTTCACTGGGGGTGTATGGGGTAGATGGGTGGAGAGGGAGGGGATAAGAGAGGTGCATGTTGGTATTTAAAGTAGTGG
ATTCAAAGAACTTAGATTATAAATAAGAGTTCCATTAGGTGATACATAGATAAGGGCTTTTTCTCCCCGCAAACACCCCTAAGAATGGTT
CTGTGTATGTGAATGAGCGGGTGGTAATTGTGGCTAAATATTTTTGTTTTACCAAGAAACTGAAATAATTCTGGCCAGGAATAAATACTT
CCTGAACATCTTAGGTCTTTTCAACAAGAAAAAGACAGAGGATTGTCCTTAAGTCCCTGCTAAAACATTCCATTGTTAAAATTTGCACTT
TGAAGGTAAGCTTTCTAGGCCTGACCCTCCAGGTGTCAATGGACTTGTGCTACTATATTTTTTTATTCTTGGTATCAGTTTAAAATTCAG
ACAAGGCCCACAGAATAAGATTTTCCATGCATTTGCAAATACGTATATTCTTTTTCCATCCACTTGCACAATATCATTACCATCACTTTT
TCATCATTCCTCAGCTACTACTCACATTCATTTAATGGTTTCTGTAAACATTTTTAAGACAGTTGGGATGTCACTTAACATTTTTTTTTT
GAGCTAAAGTCAGGGAATCAAGCCATGCTTAATATTTAACAATCACTTATATGTGTGTCGAAGAGTTTGTTTTGTTTGTCATGTATTGGT
ACAAGCAGATACAGTATAAACTCACAAACACAGATTTGAAAATAATGCACATATGGTGTTCAAATTTGAACCTTTCTCATGGATTTTTGT
GGTGTGGGCCAATATGGTGTTTACATTATATAATTCCTGCTGTGGCAAGTAAAGCACACTTTTTTTTTCTCCTAAAATGTTTTTCCCTGT
GTATCCTATTATGGATACTGGTTTTGTTAATTATGATTCTTTATTTTCTCTCCTTTTTTTAGGATATAGCAGTAATGCTATTACTGAAAT
GAATTTCCTTTTTCTGAAATGTAATCATTGATGCTTGAATGATAGAATTTTAGTACTGTAAACAGGCTTTAGTCATTAATGTGAGAGACT
TAGAAAAAATGCTTAGAGTGGACTATTAAATGTGCCTAAATGAATTTTGCAGTAACTGGTATTCTTGGGTTTTCCTACTTAATACACAGT
AATTCAGAACTTGTATTCTATTATGAGTTTAGCAGTCTTTTGGAGTGACCAGCAACTTTGATGTTTGCACTAAGATTTTATTTGGAATGC
AAGAGAGGTTGAAAGAGGATTCAGTAGTACACATACAACTAATTTATTTGAACTATATGTTGAAGACATCTACCAGTTTCTCCAAATGCC
TTTTTTAAAACTCATCACAGAAGATTGGTGAAAATGCTGAGTATGACACTTTTCTTCTTGCATGCATGTCAGCTACATAAACAGTTTTGT
ACAATGAAAATTACTAATTTGTTTGACATTCCATGTTAAACTACGGTCATGTTCAGCTTCATTGCATGTAATGTAGACCTAGTCCATCAG
ATCATGTGTTCTGGAGAGTGTTCTTTATTCAATAAAGTTTTAATTTAGTATAAACATAAAGAAGATTACCCCAAATTTGGACTTTTGGAT
CAGGACCTTAGTAACATTGGTCCTGCTTATGACAACCAAAAACAGAGCAGTGCTGTGTCTACTAGTGGGAATTTAAATGGGGGAATTGCA
GCAGGAAGCAGCGGAAAAGGACGAGGAGCCAAGCGCAAACAGCAGGATGGAGGGACCACAGGGACCACCAAGAAGGCCCGGAGTGACCCT
TTGTTTTCTGCTCAGCGCCTTCCCCCTCATGGCTACCCATTGGAACACCCGTTTAACAAAGATGGCTATCGGTATATTCTAGCTGAGCCT
GATCCGCACGCCCCTGACCCCGAGAAGCTGGAACTTGACTGCTGGGCAGGAAAACCTATTCCTGGAGACCTCTACAGAGCCTGCTTGTAT
GAACGGGTTTTGTTAGCCCTACATGATCGAGCTCCCCAGTTAAAGATCTCAGATGACCGGCTGACTGTGGTTGGAGAGAAGGGCTACTCT
ATGGTGAGGGCCTCTCATGGAGTACGGAAAGGTGCCTGGTATTTTGAAATCACTGTGGATGAGATGCCACCAGATACCGCTGCCAGACTG
GGTTGGTCCCAGCCCCTAGGAAACCTTCAAGCTCCTTTAGGTTATGATAAATTTAGCTATTCTTGGCGGAGCAAAAAGGGAACCAAGTTC
CACCAGTCCATTGGCAAACACTACTCTTCTGGCTATGGACAGGGAGACGTCCTGGGATTTTATATTAATCTTCCTGAAGACACAGAGACA
GCCAAGTCATTGCCAGACACATACAAAGATAAGGCTTTGATAAAATTCAAGAGTTATTTGTATTTTGAGGAAAAAGACTTTGTGGATAAA
GCAGAGAAGAGCCTGAAGCAGACTCCCCATAGTGAGATAATATTTTATAAAAATGGTGTCAATCAAGGTGTGGCTTACAAAGATATTTTT
GAGGGGGTTTACTTCCCAGCCATCTCACTGTACAAGAGCTGCACGGTTTCCATTAACTTTGGACCATGCTTCAAGTATCCTCCGAAGGAT
CTCACTTACCGCCCTATGAGTGACATGGGCTGGGGCGCCGTGGTAGAGCACACCCTGGCTGACGTCTTGTATCACGTGGAGACAGAAGTG
GATGGGAGGCGCAGTCCCCCATGGGAACCCTGACCAGGTCCCTCTTTTCTGTCAAGGACTTTCTGGGAATAATACTGGGGGTTTTGTTTT
TGTTTTTGAACTGTCTCAAATGTTCTCCCAAAGATGCTAAAAACACAGCCTCTCCTTTTAGCAAGTTAAAAGGCTGGGTAGGACTGCGGG
AGACTGCCTGCCTTTCACCATTTTCTCCCCACTTCCAGTGACTGCTCTTATTTTGTGTACCATAAGCCAACAACCGCTGACTCCAGGATT
GCATAAGCCCCCTGTGAAATCGGTGCTGTACTGCATACCCTGCCAGCTGTGACTTGTTATCCTACTATATTTTCTAAGGAGTGAATAATA
TTGTCCGAGTAACTAACTTATTTAAAAGACATTTCCTTCTGTGGGCATTGACTGTATCCCACCTGTTTTCCAAGGAAATGGTAACCTGTT

>33164_33164_5_GJA1-ASH2L_GJA1_chr6_121768616_ENST00000282561_ASH2L_chr8_37972483_ENST00000545394_length(amino acids)=372AA_BP=
MDQDLSNIGPAYDNQKQSSAVSTSGNLNGGIAAGSSGKGRGAKRKQQDGGTTGTTKKARSDPLFSAQRLPPHGYPLEHPFNKDGYRYILA
EPDPHAPDPEKLELDCWAGKPIPGDLYRACLYERVLLALHDRAPQLKISDDRLTVVGEKGYSMVRASHGVRKGAWYFEITVDEMPPDTAA
RLGWSQPLGNLQAPLGYDKFSYSWRSKKGTKFHQSIGKHYSSGYGQGDVLGFYINLPEDTETAKSLPDTYKDKALIKFKSYLYFEEKDFV
DKAEKSLKQTPHSEIIFYKNGVNQGVAYKDIFEGVYFPAISLYKSCTVSINFGPCFKYPPKDLTYRPMSDMGWGAVVEHTLADVLYHVET

--------------------------------------------------------------

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Fusion Gene PPI Analysis for GJA1-ASH2L


check button Go to ChiPPI (Chimeric Protein-Protein interactions) to see the chimeric PPI interaction in

ChiPPI page.


check button Protein-protein interactors with each fusion partner protein in wild-type (BIOGRID-3.4.160)
HgeneHgene's interactorsTgeneTgene's interactors


check button - Retained PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with
TgeneASH2Lchr6:121768616chr8:37972483ENST00000250635015316_6280502.0RBBP5
TgeneASH2Lchr6:121768616chr8:37972483ENST00000343823016316_6280629.0RBBP5
TgeneASH2Lchr6:121768616chr8:37972483ENST00000428278016316_6280535.0RBBP5
TgeneASH2Lchr6:121768616chr8:37972483ENST00000521652015316_6280502.0RBBP5


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12244_3820383.0NOV
HgeneGJA1chr6:121768616chr8:37972483ENST00000282561-12264_3820383.0UBQLN4


check button - Retained PPIs, but lost function due to frame-shift fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


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Related Drugs for GJA1-ASH2L


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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Related Diseases for GJA1-ASH2L


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource