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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:ADAMTSL2-MAPKAP1 (FusionGDB2 ID:HG9719TG79109)

Fusion Gene Summary for ADAMTSL2-MAPKAP1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADAMTSL2-MAPKAP1
Fusion gene ID: hg9719tg79109
HgeneTgene
Gene symbol

ADAMTSL2

MAPKAP1

Gene ID

9719

79109

Gene nameADAMTS like 2MAPK associated protein 1
SynonymsADAMTSL-2|GPHYSD1JC310|MIP1|SIN1|SIN1b|SIN1g
Cytomap('ADAMTSL2')('MAPKAP1')

9q34.2

9q33.3

Type of geneprotein-codingprotein-coding
DescriptionADAMTS-like protein 2target of rapamycin complex 2 subunit MAPKAP1MEKK2-interacting protein 1SAPK-interacting protein 1TORC2 subunit MAPKAP1mSIN1mitogen-activated protein kinase 2-associated protein 1mitogen-activated protein kinase associated protein 1ras inhibitor MG
Modification date2020031320200329
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000354484, ENST00000393060, 
ENST00000393061, 
Fusion gene scores* DoF score4 X 4 X 2=3212 X 10 X 10=1200
# samples 413
** MAII scorelog2(4/32*10)=0.321928094887362
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0		log2(13/1200*10)=-3.20645087746743
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADAMTSL2 [Title/Abstract] AND MAPKAP1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADAMTSL2(136406123)-MAPKAP1(128268696), # samples:2
Anticipated loss of major functional domain due to fusion event.ADAMTSL2-MAPKAP1 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.
ADAMTSL2-MAPKAP1 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.
ADAMTSL2-MAPKAP1 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.
ADAMTSL2-MAPKAP1 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

check buttonFusion gene breakpoints across ADAMTSL2 (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 MAPKAP1 (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
ChimerDB4LUSCTCGA-22-4604-01AADAMTSL2chr9

136406123

-MAPKAP1chr9

128268696

-
ChimerDB4LUSCTCGA-22-4604-01AADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-


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Fusion Gene ORF analysis for ADAMTSL2-MAPKAP1

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-intronENST00000354484ENST00000265960ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000350766ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000373497ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000373503ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000394060ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000394063ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000354484ENST00000483937ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000265960ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000350766ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000373497ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000373503ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000394060ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000394063ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393060ENST00000483937ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000265960ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000350766ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000373497ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000373503ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000394060ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000394063ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
5CDS-intronENST00000393061ENST00000483937ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000354484ENST00000373498ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000354484ENST00000373511ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000393060ENST00000373498ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000393060ENST00000373511ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000393061ENST00000373498ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-
In-frameENST00000393061ENST00000373511ADAMTSL2chr9

136406123

+MAPKAP1chr9

128268696

-

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)
ENST00000354484ADAMTSL2chr9136406123+ENST00000373511MAPKAP1chr9128268696-320312394101708432
ENST00000354484ADAMTSL2chr9136406123+ENST00000373498MAPKAP1chr9128268696-334312394101849479
ENST00000393061ADAMTSL2chr9136406123+ENST00000373511MAPKAP1chr9128268696-340514413571910517
ENST00000393061ADAMTSL2chr9136406123+ENST00000373498MAPKAP1chr9128268696-354514413572051564
ENST00000393060ADAMTSL2chr9136406123+ENST00000373511MAPKAP1chr9128268696-2861897471366439
ENST00000393060ADAMTSL2chr9136406123+ENST00000373498MAPKAP1chr9128268696-3001897471507486

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
ENST00000354484ENST00000373511ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.006929280.99307066
ENST00000354484ENST00000373498ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.0072523880.9927476
ENST00000393061ENST00000373511ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.0226103830.97738963
ENST00000393061ENST00000373498ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.015620770.98437923
ENST00000393060ENST00000373511ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.0068195740.9931804
ENST00000393060ENST00000373498ADAMTSL2chr9136406123+MAPKAP1chr9128268696-0.0066094160.99339056

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Fusion Genomic Features for ADAMTSL2-MAPKAP1


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 ADAMTSL2-MAPKAP1


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/chr9:136406123/chr9:128268696)
- 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
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+71947_106227952.0DomainTSP type-1 1
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+71947_106227952.0DomainTSP type-1 1

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719564_618227952.0DomainTSP type-1 2
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719622_686227952.0DomainTSP type-1 3
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719688_736227952.0DomainTSP type-1 4
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719737_795227952.0DomainTSP type-1 5
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719797_851227952.0DomainTSP type-1 6
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719853_908227952.0DomainTSP type-1 7
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000354484+719912_950227952.0DomainPLAC
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719564_618227952.0DomainTSP type-1 2
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719622_686227952.0DomainTSP type-1 3
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719688_736227952.0DomainTSP type-1 4
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719737_795227952.0DomainTSP type-1 5
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719797_851227952.0DomainTSP type-1 6
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719853_908227952.0DomainTSP type-1 7
HgeneADAMTSL2chr9:136406123chr9:128268696ENST00000393060+719912_950227952.0DomainPLAC


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Fusion Gene Sequence for ADAMTSL2-MAPKAP1


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.
>2134_2134_1_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000354484_MAPKAP1_chr9_128268696_ENST00000373498_length(transcript)=3343nt_BP=1239nt
CACTGGCGGAGAAAATCCCCTTCTTTTTTTTCTCTCTCTTTTTTTCTTTTTGAGACGGAATCTCACTCTTTCACCCAGACTGGAGGGCAG
CGGCGAGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGC
CCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTTACCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCGTG
TGATCCCCCTGCTTCAGCCTCTCAAACTGCTGGGATTATAGGCATGAGCCACTGCGCCTGGCCAACAATCCCCTTCTAAAGGCAGGTGGT
GTCTCCAGCACCAGGGCCATACGGCTGCAACACCCCTACAAGTGCCGGGTCTGCCAGACAACCACGACCAACTAGTCCCAGATAACCTTG
AGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAGCTGGCCTGGTGGTGACAG
TGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAGTTGTAGCTGGGGACACAG
TGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCTGGTGGGGGGAGTGGACCA
AGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGAGGAAGTCCGTCCCGGGCC
CCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGG
AGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGATGACTATGTCCACATCTCCA
GCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTG
ACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCA
TCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGCCCTCAGTACCGCCTGGAGA
AGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTCTGCCTGGTCCGCGAGAACAGTT
CAAGGGCAGACGGGGTTTTTGAGGAGGATTCGCAAATTGACATAGCCACAGTACAGGATATGCTTAGCAGCCACCATTACAAGTCATTCA
AAGTCAGCATGATCCACAGACTGCGATTCACAACCGACGTACAGCTAGGTATCTCTGGAGACAAAGTAGAGATAGACCCTGTTACGAATC
AGAAAGCCAGCACTAAGTTTTGGATTAAGCAGAAACCCATCTCAATCGATTCCGACCTGCTCTGTGCCTGTGACCTTGCTGAAGAGAAAA
GCCCCAGTCACGCAATATTTAAACTCACGTATCTAAGCAATCACGACTATAAACACCTCTACTTTGAATCGGACGCTGCTACCGTCAATG
AAATTGTGCTCAAGGTTAACTACATCCTGGAATCGCGAGCTAGCACTGCCCGGGCTGACTACTTTGCTCAAAAACAAAGAAAACTGAACA
GACGTACGAGCTTCAGCTTCCAGAAGGAGAAGAAATCCGGGCAGCAGTGACACTGGCCTCCAGCCTCAATCTGTTCCGTAGCTCAGAGCC
TGCCTGCCAGGGCCAAGTGCCCTAGAGTCCACCCGGTGTCCTGAAGTCCTCGGGGGGAGGCCAGCCCCTGGCTCACTGGCACAGGGCAGG
TGGGCTCTCGGGGAAGGTGTCGGGGGCCCCCTAGGAGGGAGCGCTGGGGACATTGCCATGGGACGGAAGTCTGCTTGGCAGTGGCTTTGA
TAAGCGATGCTTGGGGGTCAGACCACCCCCTAGAGGAGCCACGTGCCGCCCAGCCACCTTCAATGCCTGCCACCCTGCCCGAGGATGTAC
AGAGCCGTGCCCACACATTTCCTTGCAACTTGATCAAATTTCTTAAAGCAAACAACAAAAATGTACATTTCTGTTTTTCCTTTTAATAAA
CAGGTGTACTCTTTATCATGGTTGGTATGATGGACCATTCTTTGGGGCGGAGGATTGATTATGTTACTCTCTTTAAAATCTGTTCCCATA
TTGAACAGGCAGATTGGAAAAGCTATGGTTCGATTTCTCAGAAGAAATGTTTAGGTCTTAGTCAATAGTTTTAACTATGCCATTTGTTTA
AATGAGTGCATTTGCTTCGAGGGTAGTGTCTTACTAAAAGTTAGGAACAGAGACCTAGTGGTGTGTCCAAGGCCGTGTCACTTTCCCCTT
CAGCACACCCCAGCTTCTGACCTCAGAGCCCAGGAGCTGCGTGGACAGTGTGGGGTGCCAGGAGGAGGGGCGGTGGCTGGTCCTCAGGCA
CGCTGCACTCCCAGCCAGACATGGTCTTTCCGTTTCTTAAGTAGCAAGTGTAGGTTTCAGCTGGCAGTTCCACCTGCATGTTCTCTGCTT
CGCTGCCTTGGAAGGGGCCACATTCCCCATTCCTCTTCTCCTTACAGCGCCTGCCTCCTTTTTCAAGCAGGCGGAAAGCTGCTGTTTCTC
ACGTTTCAGGGAGAGGGGTGAGCGGAGGGAGACCTGTGTCCGTGCCGTCCGGCTCCCTGGGTGGGAACAGGCAAGGGATCAGATGCCCCT
GACACCACGCCTCTGGCCACACCAGATGCCTCTGCAGTCCTCGACAGCCTCTTCAGTGTCCCTCCTGCGGTGATGTCCTTACTGTCCCCA
GCCAGGGCCGGGGACCGGTGTTTCACTGAGGACCTGCATTAGAAACATTTTTTAAATTGTTGTACAGGAAGAGATGTGTCTAAAACAGCA
TCTTAAAGCTGAGTGTATTTCTTTGCACAAGGGGTCATGCTGATGAATTCTTCTTTCATTCTGATCTTTGTTCAGCCAACAGGAGCGTCC
TTTTCTAATGTCTTCCATTCCTACCCCCCACCCAAAAACAAAAGAAATATTTGTAGCTTGCTATCTGTATTTGAATTTTTAGCAATTTTA
TATTTAGATACTTTGAAAAATGTAAATGACTAATTTGGTCATTAAATCTTGTGACATATTCGATATTAAAATGATATTAAAATAAAAGTC
ATATAAATACACA

>2134_2134_1_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000354484_MAPKAP1_chr9_128268696_ENST00000373498_length(amino acids)=479AA_BP=276
MPDNHDQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEG
GTDATAFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQ
WKPLYPDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYR
KGNAHLGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSSRADGVFEEDSQIDIATVQDMLSSHHYKSFKVSMIHRLRFTTDVQLG
ISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKLTYLSNHDYKHLYFESDAATVNEIVLKVNYILESRASTA
RADYFAQKQRKLNRRTSFSFQKEKKSGQQ

--------------------------------------------------------------
>2134_2134_2_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000354484_MAPKAP1_chr9_128268696_ENST00000373511_length(transcript)=3203nt_BP=1239nt
CACTGGCGGAGAAAATCCCCTTCTTTTTTTTCTCTCTCTTTTTTTCTTTTTGAGACGGAATCTCACTCTTTCACCCAGACTGGAGGGCAG
CGGCGAGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTTCCGAGTAGCTGGGATTACAGGTGC
CCGCCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACAGGATTTTACCATGTTGGCCATGCTGGTCTCAAACTCCTGACCTCGTG
TGATCCCCCTGCTTCAGCCTCTCAAACTGCTGGGATTATAGGCATGAGCCACTGCGCCTGGCCAACAATCCCCTTCTAAAGGCAGGTGGT
GTCTCCAGCACCAGGGCCATACGGCTGCAACACCCCTACAAGTGCCGGGTCTGCCAGACAACCACGACCAACTAGTCCCAGATAACCTTG
AGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAGCTGGCCTGGTGGTGACAG
TGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAGTTGTAGCTGGGGACACAG
TGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCTGGTGGGGGGAGTGGACCA
AGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGAGGAAGTCCGTCCCGGGCC
CCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCGGACGGGAGGAGCTTCCGCGAGG
AGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGATGACTATGTCCACATCTCCA
GCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCACATCCTGCAAGCTCACTG
ACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACACACTGGACAAGTGTGGCA
TCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGCCCTCAGTACCGCCTGGAGA
AGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTCTGCCTGGTCCGCGAGAACAGTA
TCTCTGGAGACAAAGTAGAGATAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAGCAGAAACCCATCTCAATCGATT
CCGACCTGCTCTGTGCCTGTGACCTTGCTGAAGAGAAAAGCCCCAGTCACGCAATATTTAAACTCACGTATCTAAGCAATCACGACTATA
AACACCTCTACTTTGAATCGGACGCTGCTACCGTCAATGAAATTGTGCTCAAGGTTAACTACATCCTGGAATCGCGAGCTAGCACTGCCC
GGGCTGACTACTTTGCTCAAAAACAAAGAAAACTGAACAGACGTACGAGCTTCAGCTTCCAGAAGGAGAAGAAATCCGGGCAGCAGTGAC
ACTGGCCTCCAGCCTCAATCTGTTCCGTAGCTCAGAGCCTGCCTGCCAGGGCCAAGTGCCCTAGAGTCCACCCGGTGTCCTGAAGTCCTC
GGGGGGAGGCCAGCCCCTGGCTCACTGGCACAGGGCAGGTGGGCTCTCGGGGAAGGTGTCGGGGGCCCCCTAGGAGGGAGCGCTGGGGAC
ATTGCCATGGGACGGAAGTCTGCTTGGCAGTGGCTTTGATAAGCGATGCTTGGGGGTCAGACCACCCCCTAGAGGAGCCACGTGCCGCCC
AGCCACCTTCAATGCCTGCCACCCTGCCCGAGGATGTACAGAGCCGTGCCCACACATTTCCTTGCAACTTGATCAAATTTCTTAAAGCAA
ACAACAAAAATGTACATTTCTGTTTTTCCTTTTAATAAACAGGTGTACTCTTTATCATGGTTGGTATGATGGACCATTCTTTGGGGCGGA
GGATTGATTATGTTACTCTCTTTAAAATCTGTTCCCATATTGAACAGGCAGATTGGAAAAGCTATGGTTCGATTTCTCAGAAGAAATGTT
TAGGTCTTAGTCAATAGTTTTAACTATGCCATTTGTTTAAATGAGTGCATTTGCTTCGAGGGTAGTGTCTTACTAAAAGTTAGGAACAGA
GACCTAGTGGTGTGTCCAAGGCCGTGTCACTTTCCCCTTCAGCACACCCCAGCTTCTGACCTCAGAGCCCAGGAGCTGCGTGGACAGTGT
GGGGTGCCAGGAGGAGGGGCGGTGGCTGGTCCTCAGGCACGCTGCACTCCCAGCCAGACATGGTCTTTCCGTTTCTTAAGTAGCAAGTGT
AGGTTTCAGCTGGCAGTTCCACCTGCATGTTCTCTGCTTCGCTGCCTTGGAAGGGGCCACATTCCCCATTCCTCTTCTCCTTACAGCGCC
TGCCTCCTTTTTCAAGCAGGCGGAAAGCTGCTGTTTCTCACGTTTCAGGGAGAGGGGTGAGCGGAGGGAGACCTGTGTCCGTGCCGTCCG
GCTCCCTGGGTGGGAACAGGCAAGGGATCAGATGCCCCTGACACCACGCCTCTGGCCACACCAGATGCCTCTGCAGTCCTCGACAGCCTC
TTCAGTGTCCCTCCTGCGGTGATGTCCTTACTGTCCCCAGCCAGGGCCGGGGACCGGTGTTTCACTGAGGACCTGCATTAGAAACATTTT
TTAAATTGTTGTACAGGAAGAGATGTGTCTAAAACAGCATCTTAAAGCTGAGTGTATTTCTTTGCACAAGGGGTCATGCTGATGAATTCT
TCTTTCATTCTGATCTTTGTTCAGCCAACAGGAGCGTCCTTTTCTAATGTCTTCCATTCCTACCCCCCACCCAAAAACAAAAGAAATATT
TGTAGCTTGCTATCTGTATTTGAATTTTTAGCAATTTTATATTTAGATACTTTGAAAAATGTAAATGACTAATTTGGTCATTAAATCTTG
TGACATATTCGATATTAAAATGATATTAAAATAAAAGTCATATAAATACACAC

>2134_2134_2_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000354484_MAPKAP1_chr9_128268696_ENST00000373511_length(amino acids)=432AA_BP=276
MPDNHDQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEG
GTDATAFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQ
WKPLYPDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYR
KGNAHLGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSH
AIFKLTYLSNHDYKHLYFESDAATVNEIVLKVNYILESRASTARADYFAQKQRKLNRRTSFSFQKEKKSGQQ

--------------------------------------------------------------
>2134_2134_3_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393060_MAPKAP1_chr9_128268696_ENST00000373498_length(transcript)=3001nt_BP=897nt
CGCCGTCTGCCCTCCGCAGCGCTCGCCCCTTTCTCTGGGAGGACAACCTGCTGACCCGAAGCCAGGGTCTGCCAGACAACCACGACCAAC
TAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAG
CTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAG
TTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCT
GGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGA
GGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCGGACG
GGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGATG
ACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCA
CATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACA
CACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGCC
CTCAGTACCGCCTGGAGAAGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTCTGCC
TGGTCCGCGAGAACAGTTCAAGGGCAGACGGGGTTTTTGAGGAGGATTCGCAAATTGACATAGCCACAGTACAGGATATGCTTAGCAGCC
ACCATTACAAGTCATTCAAAGTCAGCATGATCCACAGACTGCGATTCACAACCGACGTACAGCTAGGTATCTCTGGAGACAAAGTAGAGA
TAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAGCAGAAACCCATCTCAATCGATTCCGACCTGCTCTGTGCCTGTG
ACCTTGCTGAAGAGAAAAGCCCCAGTCACGCAATATTTAAACTCACGTATCTAAGCAATCACGACTATAAACACCTCTACTTTGAATCGG
ACGCTGCTACCGTCAATGAAATTGTGCTCAAGGTTAACTACATCCTGGAATCGCGAGCTAGCACTGCCCGGGCTGACTACTTTGCTCAAA
AACAAAGAAAACTGAACAGACGTACGAGCTTCAGCTTCCAGAAGGAGAAGAAATCCGGGCAGCAGTGACACTGGCCTCCAGCCTCAATCT
GTTCCGTAGCTCAGAGCCTGCCTGCCAGGGCCAAGTGCCCTAGAGTCCACCCGGTGTCCTGAAGTCCTCGGGGGGAGGCCAGCCCCTGGC
TCACTGGCACAGGGCAGGTGGGCTCTCGGGGAAGGTGTCGGGGGCCCCCTAGGAGGGAGCGCTGGGGACATTGCCATGGGACGGAAGTCT
GCTTGGCAGTGGCTTTGATAAGCGATGCTTGGGGGTCAGACCACCCCCTAGAGGAGCCACGTGCCGCCCAGCCACCTTCAATGCCTGCCA
CCCTGCCCGAGGATGTACAGAGCCGTGCCCACACATTTCCTTGCAACTTGATCAAATTTCTTAAAGCAAACAACAAAAATGTACATTTCT
GTTTTTCCTTTTAATAAACAGGTGTACTCTTTATCATGGTTGGTATGATGGACCATTCTTTGGGGCGGAGGATTGATTATGTTACTCTCT
TTAAAATCTGTTCCCATATTGAACAGGCAGATTGGAAAAGCTATGGTTCGATTTCTCAGAAGAAATGTTTAGGTCTTAGTCAATAGTTTT
AACTATGCCATTTGTTTAAATGAGTGCATTTGCTTCGAGGGTAGTGTCTTACTAAAAGTTAGGAACAGAGACCTAGTGGTGTGTCCAAGG
CCGTGTCACTTTCCCCTTCAGCACACCCCAGCTTCTGACCTCAGAGCCCAGGAGCTGCGTGGACAGTGTGGGGTGCCAGGAGGAGGGGCG
GTGGCTGGTCCTCAGGCACGCTGCACTCCCAGCCAGACATGGTCTTTCCGTTTCTTAAGTAGCAAGTGTAGGTTTCAGCTGGCAGTTCCA
CCTGCATGTTCTCTGCTTCGCTGCCTTGGAAGGGGCCACATTCCCCATTCCTCTTCTCCTTACAGCGCCTGCCTCCTTTTTCAAGCAGGC
GGAAAGCTGCTGTTTCTCACGTTTCAGGGAGAGGGGTGAGCGGAGGGAGACCTGTGTCCGTGCCGTCCGGCTCCCTGGGTGGGAACAGGC
AAGGGATCAGATGCCCCTGACACCACGCCTCTGGCCACACCAGATGCCTCTGCAGTCCTCGACAGCCTCTTCAGTGTCCCTCCTGCGGTG
ATGTCCTTACTGTCCCCAGCCAGGGCCGGGGACCGGTGTTTCACTGAGGACCTGCATTAGAAACATTTTTTAAATTGTTGTACAGGAAGA
GATGTGTCTAAAACAGCATCTTAAAGCTGAGTGTATTTCTTTGCACAAGGGGTCATGCTGATGAATTCTTCTTTCATTCTGATCTTTGTT
CAGCCAACAGGAGCGTCCTTTTCTAATGTCTTCCATTCCTACCCCCCACCCAAAAACAAAAGAAATATTTGTAGCTTGCTATCTGTATTT
GAATTTTTAGCAATTTTATATTTAGATACTTTGAAAAATGTAAATGACTAATTTGGTCATTAAATCTTGTGACATATTCGATATTAAAAT
GATATTAAAATAAAAGTCATATAAATACACA

>2134_2134_3_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393060_MAPKAP1_chr9_128268696_ENST00000373498_length(amino acids)=486AA_BP=283
MLTRSQGLPDNHDQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSP
TSNSLEGGTDATAFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHV
YNGRTHQWKPLYPDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCT
HVTGNYRKGNAHLGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSSRADGVFEEDSQIDIATVQDMLSSHHYKSFKVSMIHRLRF
TTDVQLGISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKLTYLSNHDYKHLYFESDAATVNEIVLKVNYIL
ESRASTARADYFAQKQRKLNRRTSFSFQKEKKSGQQ

--------------------------------------------------------------
>2134_2134_4_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393060_MAPKAP1_chr9_128268696_ENST00000373511_length(transcript)=2861nt_BP=897nt
CGCCGTCTGCCCTCCGCAGCGCTCGCCCCTTTCTCTGGGAGGACAACCTGCTGACCCGAAGCCAGGGTCTGCCAGACAACCACGACCAAC
TAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATCGGAG
CTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTGGCAG
TTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCCTTCT
GGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAGAGGA
GGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCGGACG
GGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCGGATG
ACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGACGGCA
CATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACCCACA
CACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTTGGCC
CTCAGTACCGCCTGGAGAAGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTCTGCC
TGGTCCGCGAGAACAGTATCTCTGGAGACAAAGTAGAGATAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAGCAGA
AACCCATCTCAATCGATTCCGACCTGCTCTGTGCCTGTGACCTTGCTGAAGAGAAAAGCCCCAGTCACGCAATATTTAAACTCACGTATC
TAAGCAATCACGACTATAAACACCTCTACTTTGAATCGGACGCTGCTACCGTCAATGAAATTGTGCTCAAGGTTAACTACATCCTGGAAT
CGCGAGCTAGCACTGCCCGGGCTGACTACTTTGCTCAAAAACAAAGAAAACTGAACAGACGTACGAGCTTCAGCTTCCAGAAGGAGAAGA
AATCCGGGCAGCAGTGACACTGGCCTCCAGCCTCAATCTGTTCCGTAGCTCAGAGCCTGCCTGCCAGGGCCAAGTGCCCTAGAGTCCACC
CGGTGTCCTGAAGTCCTCGGGGGGAGGCCAGCCCCTGGCTCACTGGCACAGGGCAGGTGGGCTCTCGGGGAAGGTGTCGGGGGCCCCCTA
GGAGGGAGCGCTGGGGACATTGCCATGGGACGGAAGTCTGCTTGGCAGTGGCTTTGATAAGCGATGCTTGGGGGTCAGACCACCCCCTAG
AGGAGCCACGTGCCGCCCAGCCACCTTCAATGCCTGCCACCCTGCCCGAGGATGTACAGAGCCGTGCCCACACATTTCCTTGCAACTTGA
TCAAATTTCTTAAAGCAAACAACAAAAATGTACATTTCTGTTTTTCCTTTTAATAAACAGGTGTACTCTTTATCATGGTTGGTATGATGG
ACCATTCTTTGGGGCGGAGGATTGATTATGTTACTCTCTTTAAAATCTGTTCCCATATTGAACAGGCAGATTGGAAAAGCTATGGTTCGA
TTTCTCAGAAGAAATGTTTAGGTCTTAGTCAATAGTTTTAACTATGCCATTTGTTTAAATGAGTGCATTTGCTTCGAGGGTAGTGTCTTA
CTAAAAGTTAGGAACAGAGACCTAGTGGTGTGTCCAAGGCCGTGTCACTTTCCCCTTCAGCACACCCCAGCTTCTGACCTCAGAGCCCAG
GAGCTGCGTGGACAGTGTGGGGTGCCAGGAGGAGGGGCGGTGGCTGGTCCTCAGGCACGCTGCACTCCCAGCCAGACATGGTCTTTCCGT
TTCTTAAGTAGCAAGTGTAGGTTTCAGCTGGCAGTTCCACCTGCATGTTCTCTGCTTCGCTGCCTTGGAAGGGGCCACATTCCCCATTCC
TCTTCTCCTTACAGCGCCTGCCTCCTTTTTCAAGCAGGCGGAAAGCTGCTGTTTCTCACGTTTCAGGGAGAGGGGTGAGCGGAGGGAGAC
CTGTGTCCGTGCCGTCCGGCTCCCTGGGTGGGAACAGGCAAGGGATCAGATGCCCCTGACACCACGCCTCTGGCCACACCAGATGCCTCT
GCAGTCCTCGACAGCCTCTTCAGTGTCCCTCCTGCGGTGATGTCCTTACTGTCCCCAGCCAGGGCCGGGGACCGGTGTTTCACTGAGGAC
CTGCATTAGAAACATTTTTTAAATTGTTGTACAGGAAGAGATGTGTCTAAAACAGCATCTTAAAGCTGAGTGTATTTCTTTGCACAAGGG
GTCATGCTGATGAATTCTTCTTTCATTCTGATCTTTGTTCAGCCAACAGGAGCGTCCTTTTCTAATGTCTTCCATTCCTACCCCCCACCC
AAAAACAAAAGAAATATTTGTAGCTTGCTATCTGTATTTGAATTTTTAGCAATTTTATATTTAGATACTTTGAAAAATGTAAATGACTAA
TTTGGTCATTAAATCTTGTGACATATTCGATATTAAAATGATATTAAAATAAAAGTCATATAAATACACAC

>2134_2134_4_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393060_MAPKAP1_chr9_128268696_ENST00000373511_length(amino acids)=439AA_BP=283
MLTRSQGLPDNHDQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSP
TSNSLEGGTDATAFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHV
YNGRTHQWKPLYPDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCT
HVTGNYRKGNAHLGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLA
EEKSPSHAIFKLTYLSNHDYKHLYFESDAATVNEIVLKVNYILESRASTARADYFAQKQRKLNRRTSFSFQKEKKSGQQ

--------------------------------------------------------------
>2134_2134_5_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393061_MAPKAP1_chr9_128268696_ENST00000373498_length(transcript)=3545nt_BP=1441nt
ACGGGACACCTCATACATCCCAGACCCCATTCTCAGGAGCCCCAGGGACAGGGCCCGCTCTGGAGGCAGAAGCCGGACAGGCGGGGCTGG
GGCTTTGCCACCGCCAGCCTCCCCGGTAACCTCAGGCCAGCGGCTGCTCCGTCTGGACACCCGACATGTGGCCCCCAGTTCTGGACCCGG
GAAGAAGGCCTCCCTGCTCGCCGCTCCTGGGCCGCCGCCGCCGGCAGCAGCCAACAGGCAGCTGGGCCGGCCTGGCCGGGCTCCAGAGGC
GCAGAGCGGGTTAAAGTGTGCGCCAGGCCGGCCGGCGCGGGCGGGGGAGCGGCCTGGTGGGAAGTGTGAGTGTTCCTCCCCGTCTGCCTG
ACAGCTATAAAGGCGGCCGCCGGCGCAGAGCCGCCACTGGGCTGCGCCCCTCCCGGGAACCCCCTCTCTTGGATGCTCTTTGAAGTGGGA
GAGGGAGGCGGCGCGGGGGAGGAGGGGAAGGGGAGAGGGAGGCCGGGCCGCAGCCTCTGCACTCACGCCGCCCCCGCACGCACAGCGCAC
CTGGCGCCGTCTGCCCTCCGCAGCGCTCGCCCCTTTCTCTGGGAGGACAACCTGCTGACCCGAAGCCAGGGTCTGCCAGACAACCACGAC
CAACTAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATC
GGAGCTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTG
GCAGTTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCC
TTCTGGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAG
AGGAGGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCG
GACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCG
GATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGAC
GGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACC
CACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTT
GGCCCTCAGTACCGCCTGGAGAAGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTC
TGCCTGGTCCGCGAGAACAGTTCAAGGGCAGACGGGGTTTTTGAGGAGGATTCGCAAATTGACATAGCCACAGTACAGGATATGCTTAGC
AGCCACCATTACAAGTCATTCAAAGTCAGCATGATCCACAGACTGCGATTCACAACCGACGTACAGCTAGGTATCTCTGGAGACAAAGTA
GAGATAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAGCAGAAACCCATCTCAATCGATTCCGACCTGCTCTGTGCC
TGTGACCTTGCTGAAGAGAAAAGCCCCAGTCACGCAATATTTAAACTCACGTATCTAAGCAATCACGACTATAAACACCTCTACTTTGAA
TCGGACGCTGCTACCGTCAATGAAATTGTGCTCAAGGTTAACTACATCCTGGAATCGCGAGCTAGCACTGCCCGGGCTGACTACTTTGCT
CAAAAACAAAGAAAACTGAACAGACGTACGAGCTTCAGCTTCCAGAAGGAGAAGAAATCCGGGCAGCAGTGACACTGGCCTCCAGCCTCA
ATCTGTTCCGTAGCTCAGAGCCTGCCTGCCAGGGCCAAGTGCCCTAGAGTCCACCCGGTGTCCTGAAGTCCTCGGGGGGAGGCCAGCCCC
TGGCTCACTGGCACAGGGCAGGTGGGCTCTCGGGGAAGGTGTCGGGGGCCCCCTAGGAGGGAGCGCTGGGGACATTGCCATGGGACGGAA
GTCTGCTTGGCAGTGGCTTTGATAAGCGATGCTTGGGGGTCAGACCACCCCCTAGAGGAGCCACGTGCCGCCCAGCCACCTTCAATGCCT
GCCACCCTGCCCGAGGATGTACAGAGCCGTGCCCACACATTTCCTTGCAACTTGATCAAATTTCTTAAAGCAAACAACAAAAATGTACAT
TTCTGTTTTTCCTTTTAATAAACAGGTGTACTCTTTATCATGGTTGGTATGATGGACCATTCTTTGGGGCGGAGGATTGATTATGTTACT
CTCTTTAAAATCTGTTCCCATATTGAACAGGCAGATTGGAAAAGCTATGGTTCGATTTCTCAGAAGAAATGTTTAGGTCTTAGTCAATAG
TTTTAACTATGCCATTTGTTTAAATGAGTGCATTTGCTTCGAGGGTAGTGTCTTACTAAAAGTTAGGAACAGAGACCTAGTGGTGTGTCC
AAGGCCGTGTCACTTTCCCCTTCAGCACACCCCAGCTTCTGACCTCAGAGCCCAGGAGCTGCGTGGACAGTGTGGGGTGCCAGGAGGAGG
GGCGGTGGCTGGTCCTCAGGCACGCTGCACTCCCAGCCAGACATGGTCTTTCCGTTTCTTAAGTAGCAAGTGTAGGTTTCAGCTGGCAGT
TCCACCTGCATGTTCTCTGCTTCGCTGCCTTGGAAGGGGCCACATTCCCCATTCCTCTTCTCCTTACAGCGCCTGCCTCCTTTTTCAAGC
AGGCGGAAAGCTGCTGTTTCTCACGTTTCAGGGAGAGGGGTGAGCGGAGGGAGACCTGTGTCCGTGCCGTCCGGCTCCCTGGGTGGGAAC
AGGCAAGGGATCAGATGCCCCTGACACCACGCCTCTGGCCACACCAGATGCCTCTGCAGTCCTCGACAGCCTCTTCAGTGTCCCTCCTGC
GGTGATGTCCTTACTGTCCCCAGCCAGGGCCGGGGACCGGTGTTTCACTGAGGACCTGCATTAGAAACATTTTTTAAATTGTTGTACAGG
AAGAGATGTGTCTAAAACAGCATCTTAAAGCTGAGTGTATTTCTTTGCACAAGGGGTCATGCTGATGAATTCTTCTTTCATTCTGATCTT
TGTTCAGCCAACAGGAGCGTCCTTTTCTAATGTCTTCCATTCCTACCCCCCACCCAAAAACAAAAGAAATATTTGTAGCTTGCTATCTGT
ATTTGAATTTTTAGCAATTTTATATTTAGATACTTTGAAAAATGTAAATGACTAATTTGGTCATTAAATCTTGTGACATATTCGATATTA
AAATGATATTAAAATAAAAGTCATATAAATACACA

>2134_2134_5_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393061_MAPKAP1_chr9_128268696_ENST00000373498_length(amino acids)=564AA_BP=361
MTAIKAAAGAEPPLGCAPPGNPLSWMLFEVGEGGGAGEEGKGRGRPGRSLCTHAAPARTAHLAPSALRSARPFLWEDNLLTRSQGLPDNH
DQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEGGTDAT
AFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQWKPLY
PDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYRKGNAH
LGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSSRADGVFEEDSQIDIATVQDMLSSHHYKSFKVSMIHRLRFTTDVQLGISGDK
VEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKLTYLSNHDYKHLYFESDAATVNEIVLKVNYILESRASTARADYF
AQKQRKLNRRTSFSFQKEKKSGQQ

--------------------------------------------------------------
>2134_2134_6_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393061_MAPKAP1_chr9_128268696_ENST00000373511_length(transcript)=3405nt_BP=1441nt
ACGGGACACCTCATACATCCCAGACCCCATTCTCAGGAGCCCCAGGGACAGGGCCCGCTCTGGAGGCAGAAGCCGGACAGGCGGGGCTGG
GGCTTTGCCACCGCCAGCCTCCCCGGTAACCTCAGGCCAGCGGCTGCTCCGTCTGGACACCCGACATGTGGCCCCCAGTTCTGGACCCGG
GAAGAAGGCCTCCCTGCTCGCCGCTCCTGGGCCGCCGCCGCCGGCAGCAGCCAACAGGCAGCTGGGCCGGCCTGGCCGGGCTCCAGAGGC
GCAGAGCGGGTTAAAGTGTGCGCCAGGCCGGCCGGCGCGGGCGGGGGAGCGGCCTGGTGGGAAGTGTGAGTGTTCCTCCCCGTCTGCCTG
ACAGCTATAAAGGCGGCCGCCGGCGCAGAGCCGCCACTGGGCTGCGCCCCTCCCGGGAACCCCCTCTCTTGGATGCTCTTTGAAGTGGGA
GAGGGAGGCGGCGCGGGGGAGGAGGGGAAGGGGAGAGGGAGGCCGGGCCGCAGCCTCTGCACTCACGCCGCCCCCGCACGCACAGCGCAC
CTGGCGCCGTCTGCCCTCCGCAGCGCTCGCCCCTTTCTCTGGGAGGACAACCTGCTGACCCGAAGCCAGGGTCTGCCAGACAACCACGAC
CAACTAGTCCCAGATAACCTTGAGGCCTGGGCACTGGCTGGGCCCCGAGGGCTCTTCCCAAAGCGTACCCTGGTCATCTGGAAGAGGATC
GGAGCTGGCCTGGTGGTGACAGTGGCCTTGCTTCCTAGGATGGATGGCAGATGGCAATGTTCCTGCTGGGCCTGGTTCCTGCTGGTTCTG
GCAGTTGTAGCTGGGGACACAGTGTCAACCGGGTCCACGGACAACAGCCCAACATCCAATAGCCTGGAGGGGGGCACCGACGCCACGGCC
TTCTGGTGGGGGGAGTGGACCAAGTGGACGGCGTGTTCCCGCAGTTGCGGGGGTGGGGTGACATCCCAGGAGCGGCACTGCCTGCAGCAG
AGGAGGAAGTCCGTCCCGGGCCCCGGGAACAGGACCTGCACGGGCACGTCCAAGCGGTACCAGCTCTGCAGAGTGCAGGAGTGTCCGCCG
GACGGGAGGAGCTTCCGCGAGGAGCAGTGCGTCTCCTTCAACTCCCACGTGTACAACGGGCGGACGCACCAGTGGAAGCCTCTGTACCCG
GATGACTATGTCCACATCTCCAGCAAACCGTGTGACCTGCACTGTACCACCGTGGACGGCCAGCGGCAGCTCATGGTCCCCGCCCGCGAC
GGCACATCCTGCAAGCTCACTGACCTGCGAGGGGTTTGCGTGTCTGGAAAATGTGAGCCCATCGGCTGTGACGGGGTGCTTTTCTCCACC
CACACACTGGACAAGTGTGGCATCTGCCAGGGGGACGGTAGCAGCTGCACCCACGTGACGGGCAACTATCGCAAGGGGAATGCCCACCTT
GGCCCTCAGTACCGCCTGGAGAAGCAGAGCGAGCCCAATGTCGCCGTTGACCTGGACAGCACTTTGGAGAGCCAGAGCGCATGGGAGTTC
TGCCTGGTCCGCGAGAACAGTATCTCTGGAGACAAAGTAGAGATAGACCCTGTTACGAATCAGAAAGCCAGCACTAAGTTTTGGATTAAG
CAGAAACCCATCTCAATCGATTCCGACCTGCTCTGTGCCTGTGACCTTGCTGAAGAGAAAAGCCCCAGTCACGCAATATTTAAACTCACG
TATCTAAGCAATCACGACTATAAACACCTCTACTTTGAATCGGACGCTGCTACCGTCAATGAAATTGTGCTCAAGGTTAACTACATCCTG
GAATCGCGAGCTAGCACTGCCCGGGCTGACTACTTTGCTCAAAAACAAAGAAAACTGAACAGACGTACGAGCTTCAGCTTCCAGAAGGAG
AAGAAATCCGGGCAGCAGTGACACTGGCCTCCAGCCTCAATCTGTTCCGTAGCTCAGAGCCTGCCTGCCAGGGCCAAGTGCCCTAGAGTC
CACCCGGTGTCCTGAAGTCCTCGGGGGGAGGCCAGCCCCTGGCTCACTGGCACAGGGCAGGTGGGCTCTCGGGGAAGGTGTCGGGGGCCC
CCTAGGAGGGAGCGCTGGGGACATTGCCATGGGACGGAAGTCTGCTTGGCAGTGGCTTTGATAAGCGATGCTTGGGGGTCAGACCACCCC
CTAGAGGAGCCACGTGCCGCCCAGCCACCTTCAATGCCTGCCACCCTGCCCGAGGATGTACAGAGCCGTGCCCACACATTTCCTTGCAAC
TTGATCAAATTTCTTAAAGCAAACAACAAAAATGTACATTTCTGTTTTTCCTTTTAATAAACAGGTGTACTCTTTATCATGGTTGGTATG
ATGGACCATTCTTTGGGGCGGAGGATTGATTATGTTACTCTCTTTAAAATCTGTTCCCATATTGAACAGGCAGATTGGAAAAGCTATGGT
TCGATTTCTCAGAAGAAATGTTTAGGTCTTAGTCAATAGTTTTAACTATGCCATTTGTTTAAATGAGTGCATTTGCTTCGAGGGTAGTGT
CTTACTAAAAGTTAGGAACAGAGACCTAGTGGTGTGTCCAAGGCCGTGTCACTTTCCCCTTCAGCACACCCCAGCTTCTGACCTCAGAGC
CCAGGAGCTGCGTGGACAGTGTGGGGTGCCAGGAGGAGGGGCGGTGGCTGGTCCTCAGGCACGCTGCACTCCCAGCCAGACATGGTCTTT
CCGTTTCTTAAGTAGCAAGTGTAGGTTTCAGCTGGCAGTTCCACCTGCATGTTCTCTGCTTCGCTGCCTTGGAAGGGGCCACATTCCCCA
TTCCTCTTCTCCTTACAGCGCCTGCCTCCTTTTTCAAGCAGGCGGAAAGCTGCTGTTTCTCACGTTTCAGGGAGAGGGGTGAGCGGAGGG
AGACCTGTGTCCGTGCCGTCCGGCTCCCTGGGTGGGAACAGGCAAGGGATCAGATGCCCCTGACACCACGCCTCTGGCCACACCAGATGC
CTCTGCAGTCCTCGACAGCCTCTTCAGTGTCCCTCCTGCGGTGATGTCCTTACTGTCCCCAGCCAGGGCCGGGGACCGGTGTTTCACTGA
GGACCTGCATTAGAAACATTTTTTAAATTGTTGTACAGGAAGAGATGTGTCTAAAACAGCATCTTAAAGCTGAGTGTATTTCTTTGCACA
AGGGGTCATGCTGATGAATTCTTCTTTCATTCTGATCTTTGTTCAGCCAACAGGAGCGTCCTTTTCTAATGTCTTCCATTCCTACCCCCC
ACCCAAAAACAAAAGAAATATTTGTAGCTTGCTATCTGTATTTGAATTTTTAGCAATTTTATATTTAGATACTTTGAAAAATGTAAATGA
CTAATTTGGTCATTAAATCTTGTGACATATTCGATATTAAAATGATATTAAAATAAAAGTCATATAAATACACAC

>2134_2134_6_ADAMTSL2-MAPKAP1_ADAMTSL2_chr9_136406123_ENST00000393061_MAPKAP1_chr9_128268696_ENST00000373511_length(amino acids)=517AA_BP=361
MTAIKAAAGAEPPLGCAPPGNPLSWMLFEVGEGGGAGEEGKGRGRPGRSLCTHAAPARTAHLAPSALRSARPFLWEDNLLTRSQGLPDNH
DQLVPDNLEAWALAGPRGLFPKRTLVIWKRIGAGLVVTVALLPRMDGRWQCSCWAWFLLVLAVVAGDTVSTGSTDNSPTSNSLEGGTDAT
AFWWGEWTKWTACSRSCGGGVTSQERHCLQQRRKSVPGPGNRTCTGTSKRYQLCRVQECPPDGRSFREEQCVSFNSHVYNGRTHQWKPLY
PDDYVHISSKPCDLHCTTVDGQRQLMVPARDGTSCKLTDLRGVCVSGKCEPIGCDGVLFSTHTLDKCGICQGDGSSCTHVTGNYRKGNAH
LGPQYRLEKQSEPNVAVDLDSTLESQSAWEFCLVRENSISGDKVEIDPVTNQKASTKFWIKQKPISIDSDLLCACDLAEEKSPSHAIFKL
TYLSNHDYKHLYFESDAATVNEIVLKVNYILESRASTARADYFAQKQRKLNRRTSFSFQKEKKSGQQ

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Fusion Gene PPI Analysis for ADAMTSL2-MAPKAP1


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
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000265960612468_522319.3333333333333523.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000350766011468_5220487.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000373498511468_522319.3333333333333523.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000373503511468_522127.33333333333333331.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000373511611468_522319.3333333333333476.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST0000039406008468_5220324.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000394063410468_522127.33333333333333331.0ATF2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003507660112_1840487.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000394060082_1840324.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003507660112_2670487.0NBN
TgeneMAPKAP1chr9:136406123chr9:128268696ENST00000394060082_2670324.0NBN


check button - Lost PPIs in in-frame fusion.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000002659606122_184319.3333333333333523.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003734985112_184319.3333333333333523.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003735035112_184127.33333333333333331.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003735116112_184319.3333333333333476.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003940634102_184127.33333333333333331.0MAP3K2
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000002659606122_267319.3333333333333523.0NBN
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003734985112_267319.3333333333333523.0NBN
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003735035112_267127.33333333333333331.0NBN
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003735116112_267319.3333333333333476.0NBN
TgeneMAPKAP1chr9:136406123chr9:128268696ENST000003940634102_267127.33333333333333331.0NBN


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 ADAMTSL2-MAPKAP1


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 ADAMTSL2-MAPKAP1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADAMTSL2C3278147GELEOPHYSIC DYSPLASIA 12GENOMICS_ENGLAND;UNIPROT
HgeneADAMTSL2C0009917Contracture1CTD_human
HgeneADAMTSL2C0013366Dyschondroplasias1CTD_human
HgeneADAMTSL2C0018273Growth Disorders1CTD_human
HgeneADAMTSL2C0018566Congenital Hand Deformities1CTD_human
HgeneADAMTSL2C0018824Heart valve disease1CTD_human
HgeneADAMTSL2C0019209Hepatomegaly1CTD_human
HgeneADAMTSL2C0025237Melnick-Needles Syndrome1CTD_human
HgeneADAMTSL2C0025521Inborn Errors of Metabolism1CTD_human
HgeneADAMTSL2C0026760Multiple Epiphyseal Dysplasia1CTD_human
HgeneADAMTSL2C0029422Osteochondrodysplasias1CTD_human
HgeneADAMTSL2C0036391Schwartz-Jampel Syndrome1CTD_human
HgeneADAMTSL2C0038015Spondyloepiphyseal Dysplasia1CTD_human
HgeneADAMTSL2C0265287Acromicric Dysplasia1CTD_human
HgeneADAMTSL2C0282631Facies1CTD_human
HgeneADAMTSL2C0432272Van Buchem disease1CTD_human
HgeneADAMTSL2C3489726Geleophysic dysplasia1CTD_human
HgeneADAMTSL2C3541456Spondyloepiphyseal Dysplasia Tarda, X-Linked1CTD_human
HgeneADAMTSL2C4551479Schwartz-Jampel Syndrome, Type 11CTD_human