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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:ASMTL-UGT1A7 (FusionGDB2 ID:HG8623TG54577)

Fusion Gene Summary for ASMTL-UGT1A7

check button Fusion gene summary
Fusion gene informationFusion gene name: ASMTL-UGT1A7
Fusion gene ID: hg8623tg54577
HgeneTgene
Gene symbol

ASMTL

UGT1A7

Gene ID

8623

54577

Gene nameacetylserotonin O-methyltransferase likeUDP glucuronosyltransferase family 1 member A7
SynonymsASMTLX|ASMTLY|ASTMLGNT1|UDPGT|UDPGT 1-7|UGT-1A|UGT-1G|UGT1|UGT1-01|UGT1-07|UGT1.1|UGT1.7|UGT1A|UGT1A1|UGT1G|hUG-BR1
Cytomap('ASMTL')('UGT1A7')

Xp22.33 and Yp11.2

2q37.1

Type of geneprotein-codingprotein-coding
Descriptionprobable bifunctional dTTP/UTP pyrophosphatase/methyltransferase proteinN-acetylserotonin O-methyltransferase-like proteinacetylserotonin N-methyltransferase-likeUDP-glucuronosyltransferase 1-7Bilirubin-specific UDPGT isozyme 1UDP glucuronosyltransferase 1 family, polypeptide A7UDP glycosyltransferase 1 family, polypeptide A7UDP-glucuronosyltransferase 1 family polypeptide A7sUDP-glucuronosyltransferase 1-1U
Modification date2020031320200313
UniProtAcc

O95671

.
Ensembl transtripts involved in fusion geneENST00000416733, ENST00000381317, 
ENST00000381333, ENST00000463763, 
ENST00000534940, 
Fusion gene scores* DoF score15 X 11 X 4=6605 X 1 X 6=30
# samples 106
** MAII scorelog2(10/660*10)=-2.72246602447109
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(6/30*10)=1
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ASMTL [Title/Abstract] AND UGT1A7 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointASMTL(1521641)-UGT1A7(234675680), # samples:2
Anticipated loss of major functional domain due to fusion event.ASMTL-UGT1A7 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.
ASMTL-UGT1A7 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
TgeneUGT1A7

GO:0052695

cellular glucuronidation

17179145

TgeneUGT1A7

GO:0052696

flavonoid glucuronidation

20056724

TgeneUGT1A7

GO:0052697

xenobiotic glucuronidation

20056724


check buttonFusion gene breakpoints across ASMTL (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 UGT1A7 (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
ChimerDB4BRCATCGA-EW-A1PB-01AASMTLchrX

1571641

-UGT1A7chr2

234675680

+
ChimerDB4BRCATCGA-EW-A1PB-01AASMTLchrY

1521641

-UGT1A7chr2

234675680

+


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Fusion Gene ORF analysis for ASMTL-UGT1A7

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
5UTR-3CDSENST00000416733ENST00000373426ASMTLchrY

1521641

-UGT1A7chr2

234675680

+
In-frameENST00000381317ENST00000373426ASMTLchrY

1521641

-UGT1A7chr2

234675680

+
In-frameENST00000381333ENST00000373426ASMTLchrY

1521641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000381317ENST00000373426ASMTLchrX

1571641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000381333ENST00000373426ASMTLchrX

1571641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000416733ENST00000373426ASMTLchrX

1571641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000463763ENST00000373426ASMTLchrX

1571641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000463763ENST00000373426ASMTLchrY

1521641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000534940ENST00000373426ASMTLchrX

1571641

-UGT1A7chr2

234675680

+
intron-3CDSENST00000534940ENST00000373426ASMTLchrY

1521641

-UGT1A7chr2

234675680

+

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)
ENST00000381317ASMTLchrY1521641-ENST00000373426UGT1A7chr2234675680+160412633863276
ENST00000381333ASMTLchrY1521641-ENST00000373426UGT1A7chr2234675680+16601828919303

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
ENST00000381317ENST00000373426ASMTLchrY1521641-UGT1A7chr2234675680+0.0006121950.99938774
ENST00000381333ENST00000373426ASMTLchrY1521641-UGT1A7chr2234675680+0.0006474090.99935263

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Fusion Genomic Features for ASMTL-UGT1A7


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)
ASMTLchrY1521640-UGT1A7chr2234675679+3.44E-060.99999654
ASMTLchrX1571640-UGT1A7chr2234675679+3.44E-060.99999654
ASMTLchrY1521640-UGT1A7chr2234675679+3.44E-060.99999654
ASMTLchrX1571640-UGT1A7chr2234675679+3.44E-060.99999654

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.
genomic feature of top 1%

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Fusion Protein Features for ASMTL-UGT1A7


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/chrY:1521641/chr2:234675680)
- 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
ASMTL

O95671

.
FUNCTION: Nucleoside triphosphate pyrophosphatase that hydrolyzes dTTP and UTP. Can also hydrolyze CTP and the modified nucleotides pseudo-UTP, 5-methyl-UTP (m(5)UTP) and 5-methyl-CTP (m(5)CTP). Has weak activity with dCTP, 8-oxo-GTP and N(4)-methyl-dCTP (PubMed:24210219). May have a dual role in cell division arrest and in preventing the incorporation of modified nucleotides into cellular nucleic acids (PubMed:24210219). In addition, the presence of the putative catalytic domain of S-adenosyl-L-methionine binding in the C-terminal region argues for a methyltransferase activity (Probable). {ECO:0000269|PubMed:24210219, ECO:0000305}.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
TgeneUGT1A7chrY:1521641chr2:234675680ENST0000037342605488_504285531.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-11311_22331622.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-113277_62131622.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381317-113508_51031622.0RegionS-adenosyl-L-methionine binding
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-11211_22331606.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-112277_62131606.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000381333-112508_51031606.0RegionS-adenosyl-L-methionine binding
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-11311_2230564.0RegionNote=MAF-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-113277_6210564.0RegionNote=ASMT-like
HgeneASMTLchrY:1521641chr2:234675680ENST00000534940-113508_5100564.0RegionS-adenosyl-L-methionine binding


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Fusion Gene Sequence for ASMTL-UGT1A7


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.
>7182_7182_1_ASMTL-UGT1A7_ASMTL_chrY_1521641_ENST00000381317_UGT1A7_chr2_234675680_ENST00000373426_length(transcript)=1604nt_BP=126nt
AAGTGCGGACGCCCGGCTCCCGGCGTGGACGCCATGGTGCTGTGCCCGGTGATTGGGAAGCTGCTGCACAAGCGCGTGGTGCTGGCCAGC
GCCTCCCCACGCCGTCAGGAGATCCTCAGCAACGCGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCT
TTGGGATCAATGGTCTCAGAAATTCCAGAGAAGAAAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGG
TACACTGGAACCCGACCATCGAATCTTGCGAACAACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACC
CGTGCCTTTATCACCCATGCTGGTTCCCATGGTGTTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGAT
CAGATGGACAATGCAAAGCGCATGGAGACTAAGGGAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCT
CTAAAAGCAGTCATCAATGACAAAAGTTACAAGGAGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGAC
CTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGCACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTAC
CATTCCTTGGACGTGATTGGTTTCCTCTTGGCCGTCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAA
TGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCCACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCAT
TCCCTAGTCATTTCCAAACTTGAAAACAGAATCAGTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCC
CAGAGTGCTTTAAAAAATTCTCTTAAATAAAAATAATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCTGGTGT
CTTTGATCAGGATGACATGTGCCATTTTTCAGAGGACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTG
TTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGGCTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTT
GCAATTGATCCTTAACCAATAATGGTCAGTCCTCATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGT
ACCTTTAGAGTGTAGGTGAAATGAATGAATGGCTTGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCT
ATGAAATTGGTGGGTGGTGTATTTGAGAAGATAATCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGA

>7182_7182_1_ASMTL-UGT1A7_ASMTL_chrY_1521641_ENST00000381317_UGT1A7_chr2_234675680_ENST00000373426_length(amino acids)=276AA_BP=31
MVLCPVIGKLLHKRVVLASASPRRQEILSNAEFEAYINASGEHGIVVFSLGSMVSEIPEKKAMAIADALGKIPQTVLWRYTGTRPSNLAN
NTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAGVTLNVLEMTSEDLENALKAVINDKSYK
ENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVLTVAFITFKCCAYGYRKCLGKKGRVKKA

--------------------------------------------------------------
>7182_7182_2_ASMTL-UGT1A7_ASMTL_chrY_1521641_ENST00000381333_UGT1A7_chr2_234675680_ENST00000373426_length(transcript)=1660nt_BP=182nt
CTGGCCGCCTGTTTTTTTTGCAGCCGCGCTGCGCGCACCGCGGGCTCCGGGCTCAGAAGTGCGGACGCCCGGCTCCCGGCGTGGACGCCA
TGGTGCTGTGCCCGGTGATTGGGAAGCTGCTGCACAAGCGCGTGGTGCTGGCCAGCGCCTCCCCACGCCGTCAGGAGATCCTCAGCAACG
CGGAATTTGAAGCCTACATTAATGCTTCTGGAGAACATGGAATTGTGGTTTTCTCTTTGGGATCAATGGTCTCAGAAATTCCAGAGAAGA
AAGCTATGGCAATTGCTGATGCTTTGGGCAAAATCCCTCAGACAGTCCTGTGGCGGTACACTGGAACCCGACCATCGAATCTTGCGAACA
ACACGATACTTGTTAAGTGGCTACCCCAAAACGATCTGCTTGGTCACCCGATGACCCGTGCCTTTATCACCCATGCTGGTTCCCATGGTG
TTTATGAAAGCATATGCAATGGCGTTCCCATGGTGATGATGCCCTTGTTTGGTGATCAGATGGACAATGCAAAGCGCATGGAGACTAAGG
GAGCTGGAGTGACCCTGAATGTTCTGGAAATGACTTCTGAAGATTTAGAAAATGCTCTAAAAGCAGTCATCAATGACAAAAGTTACAAGG
AGAACATCATGCGCCTCTCCAGCCTTCACAAGGACCGCCCGGTGGAGCCGCTGGACCTGGCCGTGTTCTGGGTGGAGTTTGTGATGAGGC
ACAAGGGCGCGCCACACCTGCGCCCCGCAGCCCACGACCTCACCTGGTACCAGTACCATTCCTTGGACGTGATTGGTTTCCTCTTGGCCG
TCGTGCTGACAGTGGCCTTCATCACCTTTAAATGTTGTGCTTATGGCTACCGGAAATGCTTGGGGAAAAAAGGGCGAGTTAAGAAAGCCC
ACAAATCCAAGACCCATTGAGAAGTGGGTGGGAAATAAGGTAAAATTTTGAACCATTCCCTAGTCATTTCCAAACTTGAAAACAGAATCA
GTGTTAAATTCATTTTATTCTTATTAAGGAAATACTTTGCATAAATTAATCAGCCCCAGAGTGCTTTAAAAAATTCTCTTAAATAAAAAT
AATAGACTCGCTAGTCAGTAAAGATATTTGAATATGTATCGTGCCCCCTCTGGTGTCTTTGATCAGGATGACATGTGCCATTTTTCAGAG
GACGTGCAGACAGGCTGGCATTCTAGATTACTTTTCTTACTCTGAAACATGGCCTGTTTGGGAGTGCGGGATTCAAAGGTGGTCCCACGG
CTGCCCCTACTGCAAATGGCAGTTTTAATCTTATCTTTTGGCTTCTGCAGATGGTTGCAATTGATCCTTAACCAATAATGGTCAGTCCTC
ATCTCTGTCGTGCTTCATAGGTGCCACCTTGTGTGTTTAAAGAAGGGAAGCTTTGTACCTTTAGAGTGTAGGTGAAATGAATGAATGGCT
TGGAGTGCACTGAGAACAGCATATGATTTCTTGCTTTGGGGAAAAAGAATGATGCTATGAAATTGGTGGGTGGTGTATTTGAGAAGATAA
TCATTGCTTATGTCAAATGGAGCTGAATTTGATAAAAACCCAAAATACAGCTATGAAGTGCTGGGCAAGTTTACTTTTTTTCTGATGTTT

>7182_7182_2_ASMTL-UGT1A7_ASMTL_chrY_1521641_ENST00000381333_UGT1A7_chr2_234675680_ENST00000373426_length(amino acids)=303AA_BP=58
MFFLQPRCAHRGLRAQKCGRPAPGVDAMVLCPVIGKLLHKRVVLASASPRRQEILSNAEFEAYINASGEHGIVVFSLGSMVSEIPEKKAM
AIADALGKIPQTVLWRYTGTRPSNLANNTILVKWLPQNDLLGHPMTRAFITHAGSHGVYESICNGVPMVMMPLFGDQMDNAKRMETKGAG
VTLNVLEMTSEDLENALKAVINDKSYKENIMRLSSLHKDRPVEPLDLAVFWVEFVMRHKGAPHLRPAAHDLTWYQYHSLDVIGFLLAVVL

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

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Fusion Gene PPI Analysis for ASMTL-UGT1A7


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


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 ASMTL-UGT1A7


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 ASMTL-UGT1A7


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneASMTLC0023467Leukemia, Myelocytic, Acute1CTD_human
HgeneASMTLC0026998Acute Myeloid Leukemia, M11CTD_human
HgeneASMTLC1879321Acute Myeloid Leukemia (AML-M2)1CTD_human