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in Kim Lab

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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:ASH2L-C8orf86 (FusionGDB2 ID:HG9070TG389649)

Fusion Gene Summary for ASH2L-C8orf86

check button Fusion gene summary
Fusion gene informationFusion gene name: ASH2L-C8orf86
Fusion gene ID: hg9070tg389649
HgeneTgene
Gene symbol

ASH2L

C8orf86

Gene ID

9070

389649

Gene nameASH2 like, histone lysine methyltransferase complex subunitchromosome 8 open reading frame 86
SynonymsASH2|ASH2L1|ASH2L2|Bre2-
Cytomap('ASH2L')('C8orf86')

8p11.23

8p11.22

Type of geneprotein-codingprotein-coding
Descriptionset1/Ash2 histone methyltransferase complex subunit ASH2ASH2-like proteinash2 (absent, small, or homeotic)-likeuncharacterized protein C8orf86
Modification date2020031320200320
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000524263, ENST00000250635, 
ENST00000343823, ENST00000428278, 
ENST00000521652, ENST00000545394, 
Fusion gene scores* DoF score13 X 10 X 6=7803 X 2 X 2=12
# samples 142
** MAII scorelog2(14/780*10)=-2.47804729680464
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/12*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ASH2L [Title/Abstract] AND C8orf86 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASH2L(37968351)-C8orf86(38374030), # samples:4
Anticipated loss of major functional domain due to fusion event.ASH2L-C8orf86 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.
ASH2L-C8orf86 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.
ASH2L-C8orf86 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.
ASH2L-C8orf86 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.
* 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
HgeneASH2L

GO:0006974

cellular response to DNA damage stimulus

17500065

HgeneASH2L

GO:0043627

response to estrogen

16603732

HgeneASH2L

GO:0051568

histone H3-K4 methylation

17355966|19556245


check buttonFusion gene breakpoints across ASH2L (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 C8orf86 (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
* 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
ChimerDB4HNSCTCGA-CR-7364-01AASH2Lchr8

37968351

-C8orf86chr8

38374030

-
ChimerDB4HNSCTCGA-CR-7364-01AASH2Lchr8

37968351

+C8orf86chr8

38374030

-
ChimerDB4HNSCTCGA-CR-7364ASH2Lchr8

37968351

+C8orf86chr8

38374030

-


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Fusion Gene ORF analysis for ASH2L-C8orf86

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
3UTR-3CDSENST00000524263ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
3UTR-intronENST00000524263ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
5CDS-intronENST00000250635ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
5CDS-intronENST00000343823ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
5CDS-intronENST00000428278ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
5CDS-intronENST00000521652ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
5CDS-intronENST00000545394ENST00000437935ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
In-frameENST00000250635ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
In-frameENST00000343823ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
In-frameENST00000428278ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
In-frameENST00000521652ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-
In-frameENST00000545394ENST00000358138ASH2Lchr8

37968351

+C8orf86chr8

38374030

-

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)
ENST00000343823ASH2Lchr837968351+ENST00000358138C8orf86chr838374030-28048943091250313
ENST00000250635ASH2Lchr837968351+ENST00000358138C8orf86chr838374030-255364358999313
ENST00000545394ASH2Lchr837968351+ENST00000358138C8orf86chr838374030-2350440272796174
ENST00000428278ASH2Lchr837968351+ENST00000358138C8orf86chr838374030-26547443571100247
ENST00000521652ASH2Lchr837968351+ENST00000358138C8orf86chr838374030-2508598211954247

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
ENST00000343823ENST00000358138ASH2Lchr837968351+C8orf86chr838374030-0.006896950.993103
ENST00000250635ENST00000358138ASH2Lchr837968351+C8orf86chr838374030-0.0070107330.9929892
ENST00000545394ENST00000358138ASH2Lchr837968351+C8orf86chr838374030-0.152298480.84770155
ENST00000428278ENST00000358138ASH2Lchr837968351+C8orf86chr838374030-0.142555920.8574441
ENST00000521652ENST00000358138ASH2Lchr837968351+C8orf86chr838374030-0.157038910.84296113

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Fusion Genomic Features for ASH2L-C8orf86


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

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Fusion Protein Features for ASH2L-C8orf86


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/chr8:37968351/chr8:38374030)
- 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
..
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}.

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
HgeneASH2Lchr8:37968351chr8:38374030ENST00000343823+51667_177195629.0RegionNote=DNA-binding
HgeneASH2Lchr8:37968351chr8:38374030ENST00000250635+5151_66101502.0Zinc fingerNote=PHD-type%3B atypical
HgeneASH2Lchr8:37968351chr8:38374030ENST00000343823+516117_150195629.0Zinc fingerNote=C4-type
HgeneASH2Lchr8:37968351chr8:38374030ENST00000343823+5161_66195629.0Zinc fingerNote=PHD-type%3B atypical
HgeneASH2Lchr8:37968351chr8:38374030ENST00000428278+5161_66101535.0Zinc fingerNote=PHD-type%3B atypical
HgeneASH2Lchr8:37968351chr8:38374030ENST00000521652+5151_66101502.0Zinc fingerNote=PHD-type%3B atypical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASH2Lchr8:37968351chr8:38374030ENST00000250635+515360_583101502.0DomainB30.2/SPRY
HgeneASH2Lchr8:37968351chr8:38374030ENST00000343823+516360_583195629.0DomainB30.2/SPRY
HgeneASH2Lchr8:37968351chr8:38374030ENST00000428278+516360_583101535.0DomainB30.2/SPRY
HgeneASH2Lchr8:37968351chr8:38374030ENST00000521652+515360_583101502.0DomainB30.2/SPRY
HgeneASH2Lchr8:37968351chr8:38374030ENST00000250635+51567_177101502.0RegionNote=DNA-binding
HgeneASH2Lchr8:37968351chr8:38374030ENST00000428278+51667_177101535.0RegionNote=DNA-binding
HgeneASH2Lchr8:37968351chr8:38374030ENST00000521652+51567_177101502.0RegionNote=DNA-binding
HgeneASH2Lchr8:37968351chr8:38374030ENST00000250635+515117_150101502.0Zinc fingerNote=C4-type
HgeneASH2Lchr8:37968351chr8:38374030ENST00000428278+516117_150101535.0Zinc fingerNote=C4-type
HgeneASH2Lchr8:37968351chr8:38374030ENST00000521652+515117_150101502.0Zinc fingerNote=C4-type


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Fusion Gene Sequence for ASH2L-C8orf86


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.
>7124_7124_1_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000250635_C8orf86_chr8_38374030_ENST00000358138_length(transcript)=2553nt_BP=643nt
CACAGCAACGCGCGCGAGAGAAGAGAGTATTCTCGCGAGAAGTCCAGGGGTGGCCGTGATGGCGGCGGCAGGAGCAGGACCTGGCCAGGA
AGCGGGTGCCGGGCCTGGCCCAGGAGCGGTCGCAAATGCAACAGGGGCAGAAGAGGGGGAGATGAAGCCGGTGGCAGCGGGAGCAGCCGC
TCCTCCTGGAGAGGGGATCTCTGCTGCTCCGACAGTTGAGCCCAGTTCCGGGGAGGCTGAAGGCGGGGAGGCAAACTTGGTCGATGTAAG
CGGTGGCTTGGAGACAGAATCATCTAATGGAAAAGATACACTAGAAGGTGCTGGGGATACATCAGAGGTGATGGATACTCAGGCGGGCTC
CGTGGATGAAGAGAATGGCCGACAGTTGGGTGAGGTAGAGCTGCAATGTGGGATTTGTACAAAATGGTTCACGGCTGACACATTTGGCAT
AGATACCTCATCCTGTCTACCTTTCATGACCAACTACAGTTTTCATTGCAACGTCTGCCATCACAGTGGGAATACCTATTTCCTCCGGAA
GCAAGCAAACTTGAAGGAAATGTGCCTTAGTGCTTTGGCCAACCTGACATGGCAGTCCCGAACACAGGATGAACATCCGAAGACAATGTT
CTCCAAAGATAAGGCTTATGAGAATACAGGCCACTGGGAGAGACTCGCATCTGTGGTTTCTTCAAAAACACAGCAGCCCACAGTGATCTC
TCATTCTTCCATTTCTATCACATTCAGTCATTACCCTCCAGCCACACTGGACTCCTTTCTTGTCCTGGAACCTATCAAACTCTTTCCTGT
CTCAAGCCTCCGCAGTCCTCTCTGCTTGAACTGTGGCTCCTGCAGAGAAAGCATCAGAATCTCCGGGGAACTGATTGGAAATGCACATTC
TCCAGCCCCGCCCAGAACTCCTGAATTAGAAACCCTGGGGTGGGACAAGCAAGCCGTGCTTTCTGGGGCACAGGTGATTCTGGTGTGTGC
TGAAGTTTAAGAACCACTGGCCGAGAACATTCTTAGGTCTGCTCTTCTTTTGCCCGGCCCCTCCCTCGCGGAGGAATTCCTTCTTATTCC
TCTCTGAAGAGTGGCTGCTGCCAAAAAACGTTTGTGAGATGGCCTGGGTTTTCTTTGTTGATTTATCATTTAGTTTGGAAGAAATCAGAA
GTCTCTTTAAGAAGCCAATTTGAAACATTCACCCCATGGGAACAGTTCTGGATGAAGTCAGAAGATCTGGAGGCAGCGCAGTAACACACG
TAGGTTTTCTGGCCATATGGACATTTCAGAGAAAACAACGCACAGAGGCCTGGAGCAGGTGAACTGGCTTAAGTAGAGAGAAACTAAGTC
ATTTGGGGATATTTAGCACCTAATGTCAAGGCAGAAATGTCTAAGATGTAATTAACAGTTATATTCTAATCTCAATAGTAGCTAAGTACA
GACTTAAACATAAGCCTGTATATAACAAAATAACCCCAGGAGAACCAAAGAAAATCTAGAAGTTGCTGCTAAAAACAGTTATGTTAGTGA
TACCTAGGAAAGTTTTTTTTCTTTTAACATGTCATTGTGGTTTACAAATGAAAATTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCC
AGCACTTTTGGAGGCCAAGGTGGGCGAATCACAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTTTACTAAAA
ATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGG
CGGAGGTTGCAGTGAGCCAAGATCATGCCACCGCACTCCAGCCTGGGCAACAGTGTGAGACTCCATCTCAAAACAAACAAACAAACAAAT
GAAACAAATGAAAATTGAAACTTCACCCATTTATGGCTATTGCCTAAAGAATTTATAAATGCCTGGGTCATTGCAAGCATATTGCTGACA
TGTCTCTCGGTCTGCGTTACCCTGGTGGACATCACGACACTCACCTGACAGGCAGCAGCTTCCTTCCAGTAAAAGCAAAGAATCTGAAAG
GAATGGAAAAGGCTCCACACAGTGCCATTTTATAGAAGGAAATGCAACAAGGTCACAGACCAGAAGGACAGCAGCCCAGGCCGGCTGGGC
ATGGAGGAAGTCCCAAGATGCTGCTGGGCATGAACAGACCTCCTCATACAGTGTGCCTCTGAAGAAATAATGCAATTGTGTGGGGCCAGA
GGAGCCACAAATAGAACAAAGGGAGGAAAGGAAAAATCAATATGCAGTAAAGAGGAGGAAGGGAGCCCGGCGCGATGTCTGAATCTCGCT
GGCAAGAAAAGGAAACAGGTGGTCTAAGCAGGCAACCCTTCACCCCACATTGTAATGCTGGGGCATGGACGTGTTCCATAGATCACTCAC
TGAGAAGTCTTCACAAGAACACTCCAAGGCAGACACTACTATCCATCTTCCACACACTGGGGGATTGAGAGTCAGAAGGATTATACAGCT

>7124_7124_1_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000250635_C8orf86_chr8_38374030_ENST00000358138_length(amino acids)=313AA_BP=195
MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEAEGGEANLVDVSGGLETESSNGKDTLEGAGD
TSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQS
RTQDEHPKTMFSKDKAYENTGHWERLASVVSSKTQQPTVISHSSISITFSHYPPATLDSFLVLEPIKLFPVSSLRSPLCLNCGSCRESIR

--------------------------------------------------------------
>7124_7124_2_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000343823_C8orf86_chr8_38374030_ENST00000358138_length(transcript)=2804nt_BP=894nt
GCAGAATATCCAGTCGTAGCCACGAAAATACGCCGCGTCAGTCCCTGACTCGAAAGGAAGTCCTCCAGAGAGCCGCACTAACCATCTAGC
TTCCTCCACCTTCAGCCTGCCAGGCCCGCGGCCACCGCCGGCGCGGGAGGCCGGCCCACCTCTGCCCGCGCGCCTGGCCTTAAAGCGGTC
GTGGAATTATGCTTCCTCAGGCAGGCGGTGGACGCACCGCGGGCTTTTTCTGTTTGAAGACTACAGCGTCACACAGCAACGCGCGCGAGA
GAAGAGAGTATTCTCGCGAGAAGTCCAGGGGTGGCCGTGATGGCGGCGGCAGGAGCAGGACCTGGCCAGGAAGCGGGTGCCGGGCCTGGC
CCAGGAGCGGTCGCAAATGCAACAGGGGCAGAAGAGGGGGAGATGAAGCCGGTGGCAGCGGGAGCAGCCGCTCCTCCTGGAGAGGGGATC
TCTGCTGCTCCGACAGTTGAGCCCAGTTCCGGGGAGGCTGAAGGCGGGGAGGCAAACTTGGTCGATGTAAGCGGTGGCTTGGAGACAGAA
TCATCTAATGGAAAAGATACACTAGAAGGTGCTGGGGATACATCAGAGGTGATGGATACTCAGGCGGGCTCCGTGGATGAAGAGAATGGC
CGACAGTTGGGTGAGGTAGAGCTGCAATGTGGGATTTGTACAAAATGGTTCACGGCTGACACATTTGGCATAGATACCTCATCCTGTCTA
CCTTTCATGACCAACTACAGTTTTCATTGCAACGTCTGCCATCACAGTGGGAATACCTATTTCCTCCGGAAGCAAGCAAACTTGAAGGAA
ATGTGCCTTAGTGCTTTGGCCAACCTGACATGGCAGTCCCGAACACAGGATGAACATCCGAAGACAATGTTCTCCAAAGATAAGGCTTAT
GAGAATACAGGCCACTGGGAGAGACTCGCATCTGTGGTTTCTTCAAAAACACAGCAGCCCACAGTGATCTCTCATTCTTCCATTTCTATC
ACATTCAGTCATTACCCTCCAGCCACACTGGACTCCTTTCTTGTCCTGGAACCTATCAAACTCTTTCCTGTCTCAAGCCTCCGCAGTCCT
CTCTGCTTGAACTGTGGCTCCTGCAGAGAAAGCATCAGAATCTCCGGGGAACTGATTGGAAATGCACATTCTCCAGCCCCGCCCAGAACT
CCTGAATTAGAAACCCTGGGGTGGGACAAGCAAGCCGTGCTTTCTGGGGCACAGGTGATTCTGGTGTGTGCTGAAGTTTAAGAACCACTG
GCCGAGAACATTCTTAGGTCTGCTCTTCTTTTGCCCGGCCCCTCCCTCGCGGAGGAATTCCTTCTTATTCCTCTCTGAAGAGTGGCTGCT
GCCAAAAAACGTTTGTGAGATGGCCTGGGTTTTCTTTGTTGATTTATCATTTAGTTTGGAAGAAATCAGAAGTCTCTTTAAGAAGCCAAT
TTGAAACATTCACCCCATGGGAACAGTTCTGGATGAAGTCAGAAGATCTGGAGGCAGCGCAGTAACACACGTAGGTTTTCTGGCCATATG
GACATTTCAGAGAAAACAACGCACAGAGGCCTGGAGCAGGTGAACTGGCTTAAGTAGAGAGAAACTAAGTCATTTGGGGATATTTAGCAC
CTAATGTCAAGGCAGAAATGTCTAAGATGTAATTAACAGTTATATTCTAATCTCAATAGTAGCTAAGTACAGACTTAAACATAAGCCTGT
ATATAACAAAATAACCCCAGGAGAACCAAAGAAAATCTAGAAGTTGCTGCTAAAAACAGTTATGTTAGTGATACCTAGGAAAGTTTTTTT
TCTTTTAACATGTCATTGTGGTTTACAAATGAAAATTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAG
GTGGGCGAATCACAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGG
CGTGGTGGTGGGCGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCA
AGATCATGCCACCGCACTCCAGCCTGGGCAACAGTGTGAGACTCCATCTCAAAACAAACAAACAAACAAATGAAACAAATGAAAATTGAA
ACTTCACCCATTTATGGCTATTGCCTAAAGAATTTATAAATGCCTGGGTCATTGCAAGCATATTGCTGACATGTCTCTCGGTCTGCGTTA
CCCTGGTGGACATCACGACACTCACCTGACAGGCAGCAGCTTCCTTCCAGTAAAAGCAAAGAATCTGAAAGGAATGGAAAAGGCTCCACA
CAGTGCCATTTTATAGAAGGAAATGCAACAAGGTCACAGACCAGAAGGACAGCAGCCCAGGCCGGCTGGGCATGGAGGAAGTCCCAAGAT
GCTGCTGGGCATGAACAGACCTCCTCATACAGTGTGCCTCTGAAGAAATAATGCAATTGTGTGGGGCCAGAGGAGCCACAAATAGAACAA
AGGGAGGAAAGGAAAAATCAATATGCAGTAAAGAGGAGGAAGGGAGCCCGGCGCGATGTCTGAATCTCGCTGGCAAGAAAAGGAAACAGG
TGGTCTAAGCAGGCAACCCTTCACCCCACATTGTAATGCTGGGGCATGGACGTGTTCCATAGATCACTCACTGAGAAGTCTTCACAAGAA
CACTCCAAGGCAGACACTACTATCCATCTTCCACACACTGGGGGATTGAGAGTCAGAAGGATTATACAGCTTGTTCAAATTATAAATAAA

>7124_7124_2_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000343823_C8orf86_chr8_38374030_ENST00000358138_length(amino acids)=313AA_BP=195
MAAAGAGPGQEAGAGPGPGAVANATGAEEGEMKPVAAGAAAPPGEGISAAPTVEPSSGEAEGGEANLVDVSGGLETESSNGKDTLEGAGD
TSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQS
RTQDEHPKTMFSKDKAYENTGHWERLASVVSSKTQQPTVISHSSISITFSHYPPATLDSFLVLEPIKLFPVSSLRSPLCLNCGSCRESIR

--------------------------------------------------------------
>7124_7124_3_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000428278_C8orf86_chr8_38374030_ENST00000358138_length(transcript)=2654nt_BP=744nt
ATCCCGCGGCTCCTGGAGCCCTGCCGCCCGCCCCCTGCGAACCCAGGCCCCGCCGCCAATGGCTCGCCCTGCCTCTGCGCCGCTTGGCCC
GTCCCCTCTCAAGCATATCTCGGATAACGCCCCTTCCGCACCTTTCACGGGCGGTGGGAGCTGAGGCTCCTGTCGTTATCTCTGATCCTT
GCACCCTGGCAGGAAGCTGGTAGCTCACACTTTAACGGGAGGCCTTCACATATTCCAGAAAAGAAACCACTTTGCAGTGCCAGACTGGAA
GAAGTAACGGTCACTCTGAAAACAGGGTGGGAGAGCTGCCTCTCTTTGAACCTCTCCCAGGACCAACTCTAACCCAGGGAGGCAAACTTG
GTCGATGTAAGCGGTGGCTTGGAGACAGAATCATCTAATGGAAAAGATACACTAGAAGGTGCTGGGGATACATCAGAGGTGATGGATACT
CAGGCGGGCTCCGTGGATGAAGAGAATGGCCGACAGTTGGGTGAGGTAGAGCTGCAATGTGGGATTTGTACAAAATGGTTCACGGCTGAC
ACATTTGGCATAGATACCTCATCCTGTCTACCTTTCATGACCAACTACAGTTTTCATTGCAACGTCTGCCATCACAGTGGGAATACCTAT
TTCCTCCGGAAGCAAGCAAACTTGAAGGAAATGTGCCTTAGTGCTTTGGCCAACCTGACATGGCAGTCCCGAACACAGGATGAACATCCG
AAGACAATGTTCTCCAAAGATAAGGCTTATGAGAATACAGGCCACTGGGAGAGACTCGCATCTGTGGTTTCTTCAAAAACACAGCAGCCC
ACAGTGATCTCTCATTCTTCCATTTCTATCACATTCAGTCATTACCCTCCAGCCACACTGGACTCCTTTCTTGTCCTGGAACCTATCAAA
CTCTTTCCTGTCTCAAGCCTCCGCAGTCCTCTCTGCTTGAACTGTGGCTCCTGCAGAGAAAGCATCAGAATCTCCGGGGAACTGATTGGA
AATGCACATTCTCCAGCCCCGCCCAGAACTCCTGAATTAGAAACCCTGGGGTGGGACAAGCAAGCCGTGCTTTCTGGGGCACAGGTGATT
CTGGTGTGTGCTGAAGTTTAAGAACCACTGGCCGAGAACATTCTTAGGTCTGCTCTTCTTTTGCCCGGCCCCTCCCTCGCGGAGGAATTC
CTTCTTATTCCTCTCTGAAGAGTGGCTGCTGCCAAAAAACGTTTGTGAGATGGCCTGGGTTTTCTTTGTTGATTTATCATTTAGTTTGGA
AGAAATCAGAAGTCTCTTTAAGAAGCCAATTTGAAACATTCACCCCATGGGAACAGTTCTGGATGAAGTCAGAAGATCTGGAGGCAGCGC
AGTAACACACGTAGGTTTTCTGGCCATATGGACATTTCAGAGAAAACAACGCACAGAGGCCTGGAGCAGGTGAACTGGCTTAAGTAGAGA
GAAACTAAGTCATTTGGGGATATTTAGCACCTAATGTCAAGGCAGAAATGTCTAAGATGTAATTAACAGTTATATTCTAATCTCAATAGT
AGCTAAGTACAGACTTAAACATAAGCCTGTATATAACAAAATAACCCCAGGAGAACCAAAGAAAATCTAGAAGTTGCTGCTAAAAACAGT
TATGTTAGTGATACCTAGGAAAGTTTTTTTTCTTTTAACATGTCATTGTGGTTTACAAATGAAAATTGAGGCCGGGCGTGGTGGCTCACG
CCTGTAATCCCAGCACTTTTGGAGGCCAAGGTGGGCGAATCACAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCAT
CTTTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGAAGGAGAATCGCTTG
AACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACCGCACTCCAGCCTGGGCAACAGTGTGAGACTCCATCTCAAAACAAACA
AACAAACAAATGAAACAAATGAAAATTGAAACTTCACCCATTTATGGCTATTGCCTAAAGAATTTATAAATGCCTGGGTCATTGCAAGCA
TATTGCTGACATGTCTCTCGGTCTGCGTTACCCTGGTGGACATCACGACACTCACCTGACAGGCAGCAGCTTCCTTCCAGTAAAAGCAAA
GAATCTGAAAGGAATGGAAAAGGCTCCACACAGTGCCATTTTATAGAAGGAAATGCAACAAGGTCACAGACCAGAAGGACAGCAGCCCAG
GCCGGCTGGGCATGGAGGAAGTCCCAAGATGCTGCTGGGCATGAACAGACCTCCTCATACAGTGTGCCTCTGAAGAAATAATGCAATTGT
GTGGGGCCAGAGGAGCCACAAATAGAACAAAGGGAGGAAAGGAAAAATCAATATGCAGTAAAGAGGAGGAAGGGAGCCCGGCGCGATGTC
TGAATCTCGCTGGCAAGAAAAGGAAACAGGTGGTCTAAGCAGGCAACCCTTCACCCCACATTGTAATGCTGGGGCATGGACGTGTTCCAT
AGATCACTCACTGAGAAGTCTTCACAAGAACACTCCAAGGCAGACACTACTATCCATCTTCCACACACTGGGGGATTGAGAGTCAGAAGG

>7124_7124_3_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000428278_C8orf86_chr8_38374030_ENST00000358138_length(amino acids)=247AA_BP=129
MVDVSGGLETESSNGKDTLEGAGDTSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNT
YFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKAYENTGHWERLASVVSSKTQQPTVISHSSISITFSHYPPATLDSFLVLEPI

--------------------------------------------------------------
>7124_7124_4_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000521652_C8orf86_chr8_38374030_ENST00000358138_length(transcript)=2508nt_BP=598nt
GGAGCTGAGGCTCCTGTCGTTATCTCTGATCCTTGCACCCTGGCAGGAAGCTGGTAGCTCACACTTTAACGGGAGGCCTTCACATATTCC
AGAAAAGAAACCACTTTGCAGTGCCAGACTGGAAGAAGTAACGGTCACTCTGAAAACAGGGTGGGAGAGCTGCCTCTCTTTGAACCTCTC
CCAGGACCAACTCTAACCCAGGGAGGCAAACTTGGTCGATGTAAGCGGTGGCTTGGAGACAGAATCATCTAATGGAAAAGATACACTAGA
AGGTGCTGGGGATACATCAGAGGTGATGGATACTCAGGCGGGCTCCGTGGATGAAGAGAATGGCCGACAGTTGGGTGAGGTAGAGCTGCA
ATGTGGGATTTGTACAAAATGGTTCACGGCTGACACATTTGGCATAGATACCTCATCCTGTCTACCTTTCATGACCAACTACAGTTTTCA
TTGCAACGTCTGCCATCACAGTGGGAATACCTATTTCCTCCGGAAGCAAGCAAACTTGAAGGAAATGTGCCTTAGTGCTTTGGCCAACCT
GACATGGCAGTCCCGAACACAGGATGAACATCCGAAGACAATGTTCTCCAAAGATAAGGCTTATGAGAATACAGGCCACTGGGAGAGACT
CGCATCTGTGGTTTCTTCAAAAACACAGCAGCCCACAGTGATCTCTCATTCTTCCATTTCTATCACATTCAGTCATTACCCTCCAGCCAC
ACTGGACTCCTTTCTTGTCCTGGAACCTATCAAACTCTTTCCTGTCTCAAGCCTCCGCAGTCCTCTCTGCTTGAACTGTGGCTCCTGCAG
AGAAAGCATCAGAATCTCCGGGGAACTGATTGGAAATGCACATTCTCCAGCCCCGCCCAGAACTCCTGAATTAGAAACCCTGGGGTGGGA
CAAGCAAGCCGTGCTTTCTGGGGCACAGGTGATTCTGGTGTGTGCTGAAGTTTAAGAACCACTGGCCGAGAACATTCTTAGGTCTGCTCT
TCTTTTGCCCGGCCCCTCCCTCGCGGAGGAATTCCTTCTTATTCCTCTCTGAAGAGTGGCTGCTGCCAAAAAACGTTTGTGAGATGGCCT
GGGTTTTCTTTGTTGATTTATCATTTAGTTTGGAAGAAATCAGAAGTCTCTTTAAGAAGCCAATTTGAAACATTCACCCCATGGGAACAG
TTCTGGATGAAGTCAGAAGATCTGGAGGCAGCGCAGTAACACACGTAGGTTTTCTGGCCATATGGACATTTCAGAGAAAACAACGCACAG
AGGCCTGGAGCAGGTGAACTGGCTTAAGTAGAGAGAAACTAAGTCATTTGGGGATATTTAGCACCTAATGTCAAGGCAGAAATGTCTAAG
ATGTAATTAACAGTTATATTCTAATCTCAATAGTAGCTAAGTACAGACTTAAACATAAGCCTGTATATAACAAAATAACCCCAGGAGAAC
CAAAGAAAATCTAGAAGTTGCTGCTAAAAACAGTTATGTTAGTGATACCTAGGAAAGTTTTTTTTCTTTTAACATGTCATTGTGGTTTAC
AAATGAAAATTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGTGGGCGAATCACAAGGTCAGGAGTT
CAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGTGGGCGCCTGTAATCTCA
GCTACTAGGGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACCGCACTCCAGCCTG
GGCAACAGTGTGAGACTCCATCTCAAAACAAACAAACAAACAAATGAAACAAATGAAAATTGAAACTTCACCCATTTATGGCTATTGCCT
AAAGAATTTATAAATGCCTGGGTCATTGCAAGCATATTGCTGACATGTCTCTCGGTCTGCGTTACCCTGGTGGACATCACGACACTCACC
TGACAGGCAGCAGCTTCCTTCCAGTAAAAGCAAAGAATCTGAAAGGAATGGAAAAGGCTCCACACAGTGCCATTTTATAGAAGGAAATGC
AACAAGGTCACAGACCAGAAGGACAGCAGCCCAGGCCGGCTGGGCATGGAGGAAGTCCCAAGATGCTGCTGGGCATGAACAGACCTCCTC
ATACAGTGTGCCTCTGAAGAAATAATGCAATTGTGTGGGGCCAGAGGAGCCACAAATAGAACAAAGGGAGGAAAGGAAAAATCAATATGC
AGTAAAGAGGAGGAAGGGAGCCCGGCGCGATGTCTGAATCTCGCTGGCAAGAAAAGGAAACAGGTGGTCTAAGCAGGCAACCCTTCACCC
CACATTGTAATGCTGGGGCATGGACGTGTTCCATAGATCACTCACTGAGAAGTCTTCACAAGAACACTCCAAGGCAGACACTACTATCCA

>7124_7124_4_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000521652_C8orf86_chr8_38374030_ENST00000358138_length(amino acids)=247AA_BP=129
MVDVSGGLETESSNGKDTLEGAGDTSEVMDTQAGSVDEENGRQLGEVELQCGICTKWFTADTFGIDTSSCLPFMTNYSFHCNVCHHSGNT
YFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKAYENTGHWERLASVVSSKTQQPTVISHSSISITFSHYPPATLDSFLVLEPI

--------------------------------------------------------------
>7124_7124_5_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000545394_C8orf86_chr8_38374030_ENST00000358138_length(transcript)=2350nt_BP=440nt
GATGGCGGCGGCAGGAGCAGGACCTGGCCAGGAAGCGGGTGCCGGGCCTGGCCCAGGAGCGGTCGCAAATGCAACAGGGGCAGAAGAGGG
GGAGATGAAGCCGGTGGCAGCGGGAGCAGCCGCTCCTCCTGGAGAGGGGATCTCTGCTGCTCCGACAGTTGAGCCCAGTTCCGGGGAGGC
TGAAGGCGGGGAGGCAAACTTGGTCGATGTAAGCGGTGGCTTGGAGACAGAATCATCTAATGGAAAAGATACACTAATCCTGTCTACCTT
TCATGACCAACTACAGTTTTCATTGCAACGTCTGCCATCACAGTGGGAATACCTATTTCCTCCGGAAGCAAGCAAACTTGAAGGAAATGT
GCCTTAGTGCTTTGGCCAACCTGACATGGCAGTCCCGAACACAGGATGAACATCCGAAGACAATGTTCTCCAAAGATAAGGCTTATGAGA
ATACAGGCCACTGGGAGAGACTCGCATCTGTGGTTTCTTCAAAAACACAGCAGCCCACAGTGATCTCTCATTCTTCCATTTCTATCACAT
TCAGTCATTACCCTCCAGCCACACTGGACTCCTTTCTTGTCCTGGAACCTATCAAACTCTTTCCTGTCTCAAGCCTCCGCAGTCCTCTCT
GCTTGAACTGTGGCTCCTGCAGAGAAAGCATCAGAATCTCCGGGGAACTGATTGGAAATGCACATTCTCCAGCCCCGCCCAGAACTCCTG
AATTAGAAACCCTGGGGTGGGACAAGCAAGCCGTGCTTTCTGGGGCACAGGTGATTCTGGTGTGTGCTGAAGTTTAAGAACCACTGGCCG
AGAACATTCTTAGGTCTGCTCTTCTTTTGCCCGGCCCCTCCCTCGCGGAGGAATTCCTTCTTATTCCTCTCTGAAGAGTGGCTGCTGCCA
AAAAACGTTTGTGAGATGGCCTGGGTTTTCTTTGTTGATTTATCATTTAGTTTGGAAGAAATCAGAAGTCTCTTTAAGAAGCCAATTTGA
AACATTCACCCCATGGGAACAGTTCTGGATGAAGTCAGAAGATCTGGAGGCAGCGCAGTAACACACGTAGGTTTTCTGGCCATATGGACA
TTTCAGAGAAAACAACGCACAGAGGCCTGGAGCAGGTGAACTGGCTTAAGTAGAGAGAAACTAAGTCATTTGGGGATATTTAGCACCTAA
TGTCAAGGCAGAAATGTCTAAGATGTAATTAACAGTTATATTCTAATCTCAATAGTAGCTAAGTACAGACTTAAACATAAGCCTGTATAT
AACAAAATAACCCCAGGAGAACCAAAGAAAATCTAGAAGTTGCTGCTAAAAACAGTTATGTTAGTGATACCTAGGAAAGTTTTTTTTCTT
TTAACATGTCATTGTGGTTTACAAATGAAAATTGAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTTGGAGGCCAAGGTGG
GCGAATCACAAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAATTAGCTGGGCGTG
GTGGTGGGCGCCTGTAATCTCAGCTACTAGGGAGGCTGAGGAAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCAAGAT
CATGCCACCGCACTCCAGCCTGGGCAACAGTGTGAGACTCCATCTCAAAACAAACAAACAAACAAATGAAACAAATGAAAATTGAAACTT
CACCCATTTATGGCTATTGCCTAAAGAATTTATAAATGCCTGGGTCATTGCAAGCATATTGCTGACATGTCTCTCGGTCTGCGTTACCCT
GGTGGACATCACGACACTCACCTGACAGGCAGCAGCTTCCTTCCAGTAAAAGCAAAGAATCTGAAAGGAATGGAAAAGGCTCCACACAGT
GCCATTTTATAGAAGGAAATGCAACAAGGTCACAGACCAGAAGGACAGCAGCCCAGGCCGGCTGGGCATGGAGGAAGTCCCAAGATGCTG
CTGGGCATGAACAGACCTCCTCATACAGTGTGCCTCTGAAGAAATAATGCAATTGTGTGGGGCCAGAGGAGCCACAAATAGAACAAAGGG
AGGAAAGGAAAAATCAATATGCAGTAAAGAGGAGGAAGGGAGCCCGGCGCGATGTCTGAATCTCGCTGGCAAGAAAAGGAAACAGGTGGT
CTAAGCAGGCAACCCTTCACCCCACATTGTAATGCTGGGGCATGGACGTGTTCCATAGATCACTCACTGAGAAGTCTTCACAAGAACACT
CCAAGGCAGACACTACTATCCATCTTCCACACACTGGGGGATTGAGAGTCAGAAGGATTATACAGCTTGTTCAAATTATAAATAAAAGCC

>7124_7124_5_ASH2L-C8orf86_ASH2L_chr8_37968351_ENST00000545394_C8orf86_chr8_38374030_ENST00000358138_length(amino acids)=174AA_BP=56
MTNYSFHCNVCHHSGNTYFLRKQANLKEMCLSALANLTWQSRTQDEHPKTMFSKDKAYENTGHWERLASVVSSKTQQPTVISHSSISITF

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

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Fusion Gene PPI Analysis for ASH2L-C8orf86


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


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
HgeneASH2Lchr8:37968351chr8:38374030ENST00000250635+515316_628101.0502.0RBBP5
HgeneASH2Lchr8:37968351chr8:38374030ENST00000343823+516316_628195.0629.0RBBP5
HgeneASH2Lchr8:37968351chr8:38374030ENST00000428278+516316_628101.0535.0RBBP5
HgeneASH2Lchr8:37968351chr8:38374030ENST00000521652+515316_628101.0502.0RBBP5


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 ASH2L-C8orf86


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 ASH2L-C8orf86


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