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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:A2ML1-RBM39 (FusionGDB2 ID:HG144568TG9584)

Fusion Gene Summary for A2ML1-RBM39

check button Fusion gene summary
Fusion gene informationFusion gene name: A2ML1-RBM39
Fusion gene ID: hg144568tg9584
HgeneTgene
Gene symbol

A2ML1

RBM39

Gene ID

144568

9584

Gene namealpha-2-macroglobulin like 1RNA binding motif protein 39
SynonymsCPAMD9|OMS|p170CAPER|CAPERalpha|FSAP59|HCC1|RNPC2
Cytomap('A2ML1')('RBM39')

12p13.31

20q11.22

Type of geneprotein-codingprotein-coding
Descriptionalpha-2-macroglobulin-like protein 1C3 and PZP-like, alpha-2-macroglobulin domain containing 9RNA-binding protein 39CAPER alphaRNA-binding region (RNP1, RRM) containing 2coactivator of activating protein-1 and estrogen receptorsepididymis secretory sperm binding proteinfunctional spliceosome-associated protein 59hepatocellular carcinoma prot
Modification date2020031320200327
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000299698, ENST00000539547, 
ENST00000540049, 
Fusion gene scores* DoF score2 X 2 X 2=824 X 16 X 12=4608
# samples 227
** MAII scorelog2(2/8*10)=1.32192809488736log2(27/4608*10)=-4.09310940439148
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: A2ML1 [Title/Abstract] AND RBM39 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointA2ML1(8988262)-RBM39(34301018), # samples:2
Anticipated loss of major functional domain due to fusion event.A2ML1-RBM39 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.
A2ML1-RBM39 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.
A2ML1-RBM39 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.
A2ML1-RBM39 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
HgeneA2ML1

GO:0052548

regulation of endopeptidase activity

16298998


check buttonFusion gene breakpoints across A2ML1 (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 RBM39 (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-QK-A6IIA2ML1chr12

8988262

+RBM39chr20

34301018

-


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Fusion Gene ORF analysis for A2ML1-RBM39

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-intronENST00000299698ENST00000397370A2ML1chr12

8988262

+RBM39chr20

34301018

-
5CDS-intronENST00000299698ENST00000463098A2ML1chr12

8988262

+RBM39chr20

34301018

-
In-frameENST00000299698ENST00000253363A2ML1chr12

8988262

+RBM39chr20

34301018

-
In-frameENST00000299698ENST00000361162A2ML1chr12

8988262

+RBM39chr20

34301018

-
In-frameENST00000299698ENST00000407261A2ML1chr12

8988262

+RBM39chr20

34301018

-
In-frameENST00000299698ENST00000528062A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000539547ENST00000253363A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000539547ENST00000361162A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000539547ENST00000407261A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000539547ENST00000528062A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000540049ENST00000253363A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000540049ENST00000361162A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000540049ENST00000407261A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-3CDSENST00000540049ENST00000528062A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-intronENST00000539547ENST00000397370A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-intronENST00000539547ENST00000463098A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-intronENST00000540049ENST00000397370A2ML1chr12

8988262

+RBM39chr20

34301018

-
intron-intronENST00000540049ENST00000463098A2ML1chr12

8988262

+RBM39chr20

34301018

-

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)
ENST00000299698A2ML1chr128988262+ENST00000253363RBM39chr2034301018-21918231411319392
ENST00000299698A2ML1chr128988262+ENST00000361162RBM39chr2034301018-21738231411301386
ENST00000299698A2ML1chr128988262+ENST00000528062RBM39chr2034301018-19038231411319392
ENST00000299698A2ML1chr128988262+ENST00000407261RBM39chr2034301018-14738231411319392

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
ENST00000299698ENST00000253363A2ML1chr128988262+RBM39chr2034301018-0.0004870990.9995129
ENST00000299698ENST00000361162A2ML1chr128988262+RBM39chr2034301018-0.0004523960.99954754
ENST00000299698ENST00000528062A2ML1chr128988262+RBM39chr2034301018-0.00056160.99943835
ENST00000299698ENST00000407261A2ML1chr128988262+RBM39chr2034301018-0.001504050.99849594

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Fusion Genomic Features for A2ML1-RBM39


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 A2ML1-RBM39


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/chr12:8988262/chr20:34301018)
- 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
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017409_416365531.0Compositional biasNote=Poly-Ala
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017409_416365525.0Compositional biasNote=Poly-Ala
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916409_416343509.0Compositional biasNote=Poly-Ala
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017445_508365531.0DomainRRM 3
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017445_508365525.0DomainRRM 3
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916445_508343509.0DomainRRM 3

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneA2ML1chr12:8988262chr20:34301018ENST00000299698+636695_7262141617.0RegionBait region
TgeneRBM39chr12:8988262chr20:34301018ENST00000253363101741_90365531.0Compositional biasNote=Arg/Ser-rich (RS domain)
TgeneRBM39chr12:8988262chr20:34301018ENST00000361162101741_90365525.0Compositional biasNote=Arg/Ser-rich (RS domain)
TgeneRBM39chr12:8988262chr20:34301018ENST0000052806291641_90343509.0Compositional biasNote=Arg/Ser-rich (RS domain)
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017153_230365531.0DomainRRM 1
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017250_328365531.0DomainRRM 2
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017153_230365525.0DomainRRM 1
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017250_328365525.0DomainRRM 2
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916153_230343509.0DomainRRM 1
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916250_328343509.0DomainRRM 2
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017291_355365531.0RegionActivating domain
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017291_355365525.0RegionActivating domain
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916291_355343509.0RegionActivating domain


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Fusion Gene Sequence for A2ML1-RBM39


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.
>24_24_1_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000253363_length(transcript)=2191nt_BP=823nt
GTCCACCACCTAACCTGGTGGTTACAGAAGGAGGAACACAGTCCTCCTGTGTTCCAGGTGCCAGGAGGTGACTGACTATAGCATCAGTCA
TCACTGCACACCCTACCTGGAATTAGTATATAAAGCTACGCGGAGCGATCTCTGCCCCTGACCCTGGAAAAATCTGTCTCACCCACAAAG
ATGTGGGCTCAGCTCCTTCTAGGAATGTTGGCCCTATCACCAGCCATTGCAGAAGAACTTCCAAACTACCTGGTGACATTACCAGCCCGG
CTAAATTTCCCCTCCGTTCAGAAGGTTTGTTTGGACCTGAGCCCTGGGTACAGTGATGTTAAATTCACGGTTACTCTGGAGACCAAGGAC
AAGACCCAGAAGTTGCTAGAATACTCTGGACTGAAGAAGAGGCACTTACATTGTATCTCCTTTCTTGTACCACCTCCTGCTGGTGGCACA
GAAGAAGTGGCCACAATCCGGGTGTCGGGAGTTGGAAATAACATCAGCTTTGAGGAGAAGAAAAAGGTTCTAATTCAGAGGCAGGGGAAC
GGCACCTTTGTACAGACTGACAAACCTCTCTACACCCCAGGGCAGCAAGTGTATTTCCGCATTGTCACCATGGATAGCAACTTCGTTCCA
GTGAATGACAAGTACTCCATGGTGGAACTACAGGATCCAAATAGCAACAGGATTGCACAGTGGCTGGAAGTGGTACCTGAGCAAGGCATT
GTAGACCTGTCCTTCCAACTGGCACCAGAGGCAATGCTGGGCACCTACACTGTGGCAGTGGCTGAGGGCAAGACCTTTGGTACTTTCAGT
GTGGAGGAATATGGTACAGGTTTGCAGATTCCGCCAGCAGCACAGCAAGCTCTACAGATGAGTGGCTCTTTGGCATTTGGTGCTGTGGCA
GAATTCTCTTTTGTTATAGATTTGCAAACAAGACTTTCCCAGCAGACTGAAGCTTCAGCTTTAGCTGCAGCTGCCTCTGTTCAGCCACTT
GCAACACAATGTTTCCAACTCTCTAACATGTTTAACCCTCAAACAGAAGAAGAAGTTGGATGGGATACCGAGATTAAGGATGATGTGATT
GAAGAATGTAATAAACATGGAGGAGTTATTCATATTTATGTTGACAAAAATTCAGCTCAGGGCAATGTGTATGTGAAGTGCCCATCAATT
GCTGCAGCTATTGCTGCTGTCAATGCATTGCATGGCAGGTGGTTTGCTGGTAAAATGATAACAGCAGCATATGTACCTCTTCCAACTTAC
CACAACCTGTTTCCTGATTCTATGACAGCAACACAGCTACTGGTTCCAAGTAGACGATGAAGGAAGATATAGTCCCTTATGTATATAGCT
TTTTTTCTTTCTTGAGAATTCATCTTGAGTTATCTTTTATTTAGATAAAAATAAAGAGGCAAGGATCTACTGTCATTTGTATGCAATTTC
CTGTTACCTTGAAAAAATAAAAATGTTAACAGGAATGCAGTGTGCTCATTCTCCCTAAATAGTAAATCCCACTGTATACAAAACTGTTCT
CTTGTTCTGCCTTTTAAAATGTTCATGTAGAAAATTAATGAACTATAGGAATAGCTCTAGGAGAACAAATGTGCTTTCTGTAAAAAGGCA
GACCAGGGATGTAATGTTTTTAATGTTTCAGAAGCCTAACTTTTTACACAGTGGTTACATTTCACATTTCACTAATGTTGATATTTGGCT
GATGGTTGAGCAGTTTCTGAAATACACATTTAGTGTATGGAAATACAAGACAGCTAAAGGGCTGTTTGGTTAGCATCTCATCTTGCATTC
TGATCAATTGGCAAGAAAGGGAGATTTCAAAATTATATTTCTTGATGGTATCTTTTCAATTAATGTATCTGTAAAAGTTTCTTTGTAAAT
ACTATGTGTTCTGGTGTGTCTTAAAATTCCAAACAAAATGATCCCTGCATTTCCTGAAGATGTTTAAACGTGAGAGTCTGGTAGGCAAAG
CAGTCTGAGAAAGAAATAGGAAATGCAGAAATAGGTTTTGTCTGGTTGCATATAATCTTTGCTCTTTTTAAGCTCTGTGAGCTCTGAAAT
ATATTTTTGGGTTACTTCAGTGTGTTTGACAAGACAGCTTGATATTTCTATCAAACAAATGACTTTCATATTGCAACAATCTTTGTAAGA
ACCACTCAAATAAAAGTCTCTTAAAAAGGCC

>24_24_1_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000253363_length(amino acids)=392AA_BP=227
MPLTLEKSVSPTKMWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLH
CISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNR
IAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYGTGLQIPPAAQQALQMSGSLAFGAVAEFSFVIDLQTRLSQQTE
ASALAAAASVQPLATQCFQLSNMFNPQTEEEVGWDTEIKDDVIEECNKHGGVIHIYVDKNSAQGNVYVKCPSIAAAIAAVNALHGRWFAG
KMITAAYVPLPTYHNLFPDSMTATQLLVPSRR

--------------------------------------------------------------
>24_24_2_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000361162_length(transcript)=2173nt_BP=823nt
GTCCACCACCTAACCTGGTGGTTACAGAAGGAGGAACACAGTCCTCCTGTGTTCCAGGTGCCAGGAGGTGACTGACTATAGCATCAGTCA
TCACTGCACACCCTACCTGGAATTAGTATATAAAGCTACGCGGAGCGATCTCTGCCCCTGACCCTGGAAAAATCTGTCTCACCCACAAAG
ATGTGGGCTCAGCTCCTTCTAGGAATGTTGGCCCTATCACCAGCCATTGCAGAAGAACTTCCAAACTACCTGGTGACATTACCAGCCCGG
CTAAATTTCCCCTCCGTTCAGAAGGTTTGTTTGGACCTGAGCCCTGGGTACAGTGATGTTAAATTCACGGTTACTCTGGAGACCAAGGAC
AAGACCCAGAAGTTGCTAGAATACTCTGGACTGAAGAAGAGGCACTTACATTGTATCTCCTTTCTTGTACCACCTCCTGCTGGTGGCACA
GAAGAAGTGGCCACAATCCGGGTGTCGGGAGTTGGAAATAACATCAGCTTTGAGGAGAAGAAAAAGGTTCTAATTCAGAGGCAGGGGAAC
GGCACCTTTGTACAGACTGACAAACCTCTCTACACCCCAGGGCAGCAAGTGTATTTCCGCATTGTCACCATGGATAGCAACTTCGTTCCA
GTGAATGACAAGTACTCCATGGTGGAACTACAGGATCCAAATAGCAACAGGATTGCACAGTGGCTGGAAGTGGTACCTGAGCAAGGCATT
GTAGACCTGTCCTTCCAACTGGCACCAGAGGCAATGCTGGGCACCTACACTGTGGCAGTGGCTGAGGGCAAGACCTTTGGTACTTTCAGT
GTGGAGGAATATGGTACAGGTTTGCAGATTCCGCCAGCAGCACAGCAAGCTCTACAGATGAGTGGCTCTTTGGCATTTGGTGCTGTGGCA
GATTTGCAAACAAGACTTTCCCAGCAGACTGAAGCTTCAGCTTTAGCTGCAGCTGCCTCTGTTCAGCCACTTGCAACACAATGTTTCCAA
CTCTCTAACATGTTTAACCCTCAAACAGAAGAAGAAGTTGGATGGGATACCGAGATTAAGGATGATGTGATTGAAGAATGTAATAAACAT
GGAGGAGTTATTCATATTTATGTTGACAAAAATTCAGCTCAGGGCAATGTGTATGTGAAGTGCCCATCAATTGCTGCAGCTATTGCTGCT
GTCAATGCATTGCATGGCAGGTGGTTTGCTGGTAAAATGATAACAGCAGCATATGTACCTCTTCCAACTTACCACAACCTGTTTCCTGAT
TCTATGACAGCAACACAGCTACTGGTTCCAAGTAGACGATGAAGGAAGATATAGTCCCTTATGTATATAGCTTTTTTTCTTTCTTGAGAA
TTCATCTTGAGTTATCTTTTATTTAGATAAAAATAAAGAGGCAAGGATCTACTGTCATTTGTATGCAATTTCCTGTTACCTTGAAAAAAT
AAAAATGTTAACAGGAATGCAGTGTGCTCATTCTCCCTAAATAGTAAATCCCACTGTATACAAAACTGTTCTCTTGTTCTGCCTTTTAAA
ATGTTCATGTAGAAAATTAATGAACTATAGGAATAGCTCTAGGAGAACAAATGTGCTTTCTGTAAAAAGGCAGACCAGGGATGTAATGTT
TTTAATGTTTCAGAAGCCTAACTTTTTACACAGTGGTTACATTTCACATTTCACTAATGTTGATATTTGGCTGATGGTTGAGCAGTTTCT
GAAATACACATTTAGTGTATGGAAATACAAGACAGCTAAAGGGCTGTTTGGTTAGCATCTCATCTTGCATTCTGATCAATTGGCAAGAAA
GGGAGATTTCAAAATTATATTTCTTGATGGTATCTTTTCAATTAATGTATCTGTAAAAGTTTCTTTGTAAATACTATGTGTTCTGGTGTG
TCTTAAAATTCCAAACAAAATGATCCCTGCATTTCCTGAAGATGTTTAAACGTGAGAGTCTGGTAGGCAAAGCAGTCTGAGAAAGAAATA
GGAAATGCAGAAATAGGTTTTGTCTGGTTGCATATAATCTTTGCTCTTTTTAAGCTCTGTGAGCTCTGAAATATATTTTTGGGTTACTTC
AGTGTGTTTGACAAGACAGCTTGATATTTCTATCAAACAAATGACTTTCATATTGCAACAATCTTTGTAAGAACCACTCAAATAAAAGTC
TCTTAAAAAGGCC

>24_24_2_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000361162_length(amino acids)=386AA_BP=227
MPLTLEKSVSPTKMWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLH
CISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNR
IAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYGTGLQIPPAAQQALQMSGSLAFGAVADLQTRLSQQTEASALAA
AASVQPLATQCFQLSNMFNPQTEEEVGWDTEIKDDVIEECNKHGGVIHIYVDKNSAQGNVYVKCPSIAAAIAAVNALHGRWFAGKMITAA
YVPLPTYHNLFPDSMTATQLLVPSRR

--------------------------------------------------------------
>24_24_3_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000407261_length(transcript)=1473nt_BP=823nt
GTCCACCACCTAACCTGGTGGTTACAGAAGGAGGAACACAGTCCTCCTGTGTTCCAGGTGCCAGGAGGTGACTGACTATAGCATCAGTCA
TCACTGCACACCCTACCTGGAATTAGTATATAAAGCTACGCGGAGCGATCTCTGCCCCTGACCCTGGAAAAATCTGTCTCACCCACAAAG
ATGTGGGCTCAGCTCCTTCTAGGAATGTTGGCCCTATCACCAGCCATTGCAGAAGAACTTCCAAACTACCTGGTGACATTACCAGCCCGG
CTAAATTTCCCCTCCGTTCAGAAGGTTTGTTTGGACCTGAGCCCTGGGTACAGTGATGTTAAATTCACGGTTACTCTGGAGACCAAGGAC
AAGACCCAGAAGTTGCTAGAATACTCTGGACTGAAGAAGAGGCACTTACATTGTATCTCCTTTCTTGTACCACCTCCTGCTGGTGGCACA
GAAGAAGTGGCCACAATCCGGGTGTCGGGAGTTGGAAATAACATCAGCTTTGAGGAGAAGAAAAAGGTTCTAATTCAGAGGCAGGGGAAC
GGCACCTTTGTACAGACTGACAAACCTCTCTACACCCCAGGGCAGCAAGTGTATTTCCGCATTGTCACCATGGATAGCAACTTCGTTCCA
GTGAATGACAAGTACTCCATGGTGGAACTACAGGATCCAAATAGCAACAGGATTGCACAGTGGCTGGAAGTGGTACCTGAGCAAGGCATT
GTAGACCTGTCCTTCCAACTGGCACCAGAGGCAATGCTGGGCACCTACACTGTGGCAGTGGCTGAGGGCAAGACCTTTGGTACTTTCAGT
GTGGAGGAATATGGTACAGGTTTGCAGATTCCGCCAGCAGCACAGCAAGCTCTACAGATGAGTGGCTCTTTGGCATTTGGTGCTGTGGCA
GAATTCTCTTTTGTTATAGATTTGCAAACAAGACTTTCCCAGCAGACTGAAGCTTCAGCTTTAGCTGCAGCTGCCTCTGTTCAGCCACTT
GCAACACAATGTTTCCAACTCTCTAACATGTTTAACCCTCAAACAGAAGAAGAAGTTGGATGGGATACCGAGATTAAGGATGATGTGATT
GAAGAATGTAATAAACATGGAGGAGTTATTCATATTTATGTTGACAAAAATTCAGCTCAGGGCAATGTGTATGTGAAGTGCCCATCAATT
GCTGCAGCTATTGCTGCTGTCAATGCATTGCATGGCAGGTGGTTTGCTGGTAAAATGATAACAGCAGCATATGTACCTCTTCCAACTTAC
CACAACCTGTTTCCTGATTCTATGACAGCAACACAGCTACTGGTTCCAAGTAGACGATGAAGGAAGATATAGTCCCTTATGTATATAGCT
TTTTTTCTTTCTTGAGAATTCATCTTGAGTTATCTTTTATTTAGATAAAAATAAAGAGGCAAGGATCTACTGTCATTTGTATGCAATTTC
CTGTTACCTTGAAAAAATAAAAATGTTAACAGG

>24_24_3_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000407261_length(amino acids)=392AA_BP=227
MPLTLEKSVSPTKMWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLH
CISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNR
IAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYGTGLQIPPAAQQALQMSGSLAFGAVAEFSFVIDLQTRLSQQTE
ASALAAAASVQPLATQCFQLSNMFNPQTEEEVGWDTEIKDDVIEECNKHGGVIHIYVDKNSAQGNVYVKCPSIAAAIAAVNALHGRWFAG
KMITAAYVPLPTYHNLFPDSMTATQLLVPSRR

--------------------------------------------------------------
>24_24_4_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000528062_length(transcript)=1903nt_BP=823nt
GTCCACCACCTAACCTGGTGGTTACAGAAGGAGGAACACAGTCCTCCTGTGTTCCAGGTGCCAGGAGGTGACTGACTATAGCATCAGTCA
TCACTGCACACCCTACCTGGAATTAGTATATAAAGCTACGCGGAGCGATCTCTGCCCCTGACCCTGGAAAAATCTGTCTCACCCACAAAG
ATGTGGGCTCAGCTCCTTCTAGGAATGTTGGCCCTATCACCAGCCATTGCAGAAGAACTTCCAAACTACCTGGTGACATTACCAGCCCGG
CTAAATTTCCCCTCCGTTCAGAAGGTTTGTTTGGACCTGAGCCCTGGGTACAGTGATGTTAAATTCACGGTTACTCTGGAGACCAAGGAC
AAGACCCAGAAGTTGCTAGAATACTCTGGACTGAAGAAGAGGCACTTACATTGTATCTCCTTTCTTGTACCACCTCCTGCTGGTGGCACA
GAAGAAGTGGCCACAATCCGGGTGTCGGGAGTTGGAAATAACATCAGCTTTGAGGAGAAGAAAAAGGTTCTAATTCAGAGGCAGGGGAAC
GGCACCTTTGTACAGACTGACAAACCTCTCTACACCCCAGGGCAGCAAGTGTATTTCCGCATTGTCACCATGGATAGCAACTTCGTTCCA
GTGAATGACAAGTACTCCATGGTGGAACTACAGGATCCAAATAGCAACAGGATTGCACAGTGGCTGGAAGTGGTACCTGAGCAAGGCATT
GTAGACCTGTCCTTCCAACTGGCACCAGAGGCAATGCTGGGCACCTACACTGTGGCAGTGGCTGAGGGCAAGACCTTTGGTACTTTCAGT
GTGGAGGAATATGGTACAGGTTTGCAGATTCCGCCAGCAGCACAGCAAGCTCTACAGATGAGTGGCTCTTTGGCATTTGGTGCTGTGGCA
GAATTCTCTTTTGTTATAGATTTGCAAACAAGACTTTCCCAGCAGACTGAAGCTTCAGCTTTAGCTGCAGCTGCCTCTGTTCAGCCACTT
GCAACACAATGTTTCCAACTCTCTAACATGTTTAACCCTCAAACAGAAGAAGAAGTTGGATGGGATACCGAGATTAAGGATGATGTGATT
GAAGAATGTAATAAACATGGAGGAGTTATTCATATTTATGTTGACAAAAATTCAGCTCAGGGCAATGTGTATGTGAAGTGCCCATCAATT
GCTGCAGCTATTGCTGCTGTCAATGCATTGCATGGCAGGTGGTTTGCTGGTAAAATGATAACAGCAGCATATGTACCTCTTCCAACTTAC
CACAACCTGTTTCCTGATTCTATGACAGCAACACAGCTACTGGTTCCAAGTAGACGATGAAGGAAGATATAGTCCCTTATGTATATAGCT
TTTTTTCTTTCTTGAGAATTCATCTTGAGTTATCTTTTATTTAGATAAAAATAAAGAGGCAAGGATCTACTGTCATTTGTATGCAATTTC
CTGTTACCTTGAAAAAATAAAAATGTTAACAGGAATGCAGTGTGCTCATTCTCCCTAAATAGTAAATCCCACTGTATACAAAACTGTTCT
CTTGTTCTGCCTTTTAAAATGTTCATGTAGAAAATTAATGAACTATAGGAATAGCTCTAGGAGAACAAATGTGCTTTCTGTAAAAAGGCA
GACCAGGGATGTAATGTTTTTAATGTTTCAGAAGCCTAACTTTTTACACAGTGGTTACATTTCACATTTCACTAATGTTGATATTTGGCT
GATGGTTGAGCAGTTTCTGAAATACACATTTAGTGTATGGAAATACAAGACAGCTAAAGGGCTGTTTGGTTAGCATCTCATCTTGCATTC
TGATCAATTGGCAAGAAAGGGAGATTTCAAAATTATATTTCTTGATGGTATCTTTTCAATTAATGTATCTGTAAAAGTTTCTTTGTAAAT
ACTATGTGTTCTG

>24_24_4_A2ML1-RBM39_A2ML1_chr12_8988262_ENST00000299698_RBM39_chr20_34301018_ENST00000528062_length(amino acids)=392AA_BP=227
MPLTLEKSVSPTKMWAQLLLGMLALSPAIAEELPNYLVTLPARLNFPSVQKVCLDLSPGYSDVKFTVTLETKDKTQKLLEYSGLKKRHLH
CISFLVPPPAGGTEEVATIRVSGVGNNISFEEKKKVLIQRQGNGTFVQTDKPLYTPGQQVYFRIVTMDSNFVPVNDKYSMVELQDPNSNR
IAQWLEVVPEQGIVDLSFQLAPEAMLGTYTVAVAEGKTFGTFSVEEYGTGLQIPPAAQQALQMSGSLAFGAVAEFSFVIDLQTRLSQQTE
ASALAAAASVQPLATQCFQLSNMFNPQTEEEVGWDTEIKDDVIEECNKHGGVIHIYVDKNSAQGNVYVKCPSIAAAIAAVNALHGRWFAG
KMITAAYVPLPTYHNLFPDSMTATQLLVPSRR

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

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Fusion Gene PPI Analysis for A2ML1-RBM39


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
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916355_406343.3333333333333509.0ESR1 and ESR2
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017406_530365.3333333333333531.0NCOA6
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017406_530365.3333333333333525.0NCOA6
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916406_530343.3333333333333509.0NCOA6


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017355_406365.3333333333333531.0ESR1 and ESR2
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017355_406365.3333333333333525.0ESR1 and ESR2
TgeneRBM39chr12:8988262chr20:34301018ENST000002533631017291_406365.3333333333333531.0JUN
TgeneRBM39chr12:8988262chr20:34301018ENST000003611621017291_406365.3333333333333525.0JUN
TgeneRBM39chr12:8988262chr20:34301018ENST00000528062916291_406343.3333333333333509.0JUN


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 A2ML1-RBM39


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 A2ML1-RBM39


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneA2ML1C0028326Noonan Syndrome3CLINGEN;GENOMICS_ENGLAND;ORPHANET
HgeneA2ML1C0029882Otitis Media1CTD_human