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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:ADSL-MKL1 (FusionGDB2 ID:HG158TG57591)

Fusion Gene Summary for ADSL-MKL1

check button Fusion gene summary
Fusion gene informationFusion gene name: ADSL-MKL1
Fusion gene ID: hg158tg57591
HgeneTgene
Gene symbol

ADSL

MKL1

Gene ID

158

57591

Gene nameadenylosuccinate lyasemyocardin related transcription factor A
SynonymsAMPS|ASASE|ASLBSAC|MAL|MKL|MKL1|MRTF-A
Cytomap('ADSL')('MKL1')

22q13.1

22q13.1-q13.2

Type of geneprotein-codingprotein-coding
Descriptionadenylosuccinate lyaseadenylosuccinasemyocardin-related transcription factor AMKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia (translocation) 1megakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia protein
Modification date2020031520200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000216194, ENST00000342312, 
ENST00000454266, ENST00000480775, 
Fusion gene scores* DoF score5 X 5 X 3=7525 X 21 X 7=3675
# samples 530
** MAII scorelog2(5/75*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(30/3675*10)=-3.61470984411521
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ADSL [Title/Abstract] AND MKL1 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointADSL(40750331)-MKL1(40807911), # samples:3
Anticipated loss of major functional domain due to fusion event.ADSL-MKL1 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.
ADSL-MKL1 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.
ADSL-MKL1 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.
ADSL-MKL1 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.
ADSL-MKL1 seems lost the major protein functional domain in Hgene partner, which is a cell metabolism gene due to the frame-shifted ORF.
ADSL-MKL1 seems lost the major protein functional domain in Hgene partner, which is a essential gene due to the frame-shifted ORF.
ADSL-MKL1 seems lost the major protein functional domain in Tgene partner, which is a essential gene due to the frame-shifted 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
HgeneADSL

GO:0006167

AMP biosynthetic process

11428554

TgeneMKL1

GO:0010735

positive regulation of transcription via serum response element binding

24440334

TgeneMKL1

GO:0044319

wound healing, spreading of cells

29391067

TgeneMKL1

GO:0045944

positive regulation of transcription by RNA polymerase II

14970199


check buttonFusion gene breakpoints across ADSL (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 MKL1 (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
ChimerDB4OVTCGA-13-0768-01AADSLchr22

40750331

+MKL1chr22

40807911

-
ChimerDB4OVTCGA-13-0768ADSLchr22

40750331

+MKL1chr22

40807911

-


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Fusion Gene ORF analysis for ADSL-MKL1

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-intronENST00000216194ENST00000402630ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000216194ENST00000407029ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000216194ENST00000466278ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000342312ENST00000402630ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000342312ENST00000407029ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000342312ENST00000466278ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000454266ENST00000402630ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000454266ENST00000407029ADSLchr22

40750331

+MKL1chr22

40807911

-
5CDS-intronENST00000454266ENST00000466278ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000216194ENST00000355630ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000216194ENST00000402042ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000342312ENST00000355630ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000342312ENST00000402042ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000454266ENST00000355630ADSLchr22

40750331

+MKL1chr22

40807911

-
Frame-shiftENST00000454266ENST00000402042ADSLchr22

40750331

+MKL1chr22

40807911

-
In-frameENST00000216194ENST00000396617ADSLchr22

40750331

+MKL1chr22

40807911

-
In-frameENST00000342312ENST00000396617ADSLchr22

40750331

+MKL1chr22

40807911

-
In-frameENST00000454266ENST00000396617ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-3CDSENST00000480775ENST00000355630ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-3CDSENST00000480775ENST00000396617ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-3CDSENST00000480775ENST00000402042ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-intronENST00000480775ENST00000402630ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-intronENST00000480775ENST00000407029ADSLchr22

40750331

+MKL1chr22

40807911

-
intron-intronENST00000480775ENST00000466278ADSLchr22

40750331

+MKL1chr22

40807911

-

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)

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

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Fusion Genomic Features for ADSL-MKL1


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 ADSL-MKL1


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/chr22:40750331/chr22:40807911)
- 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
HgeneADSLchr22:40750331chr22:40807911ENST00000216194+413111_112160485.0RegionNote=Substrate binding
HgeneADSLchr22:40750331chr22:40807911ENST00000216194+41320_21160485.0RegionNote=Substrate binding%3B shared with neighboring subunit
HgeneADSLchr22:40750331chr22:40807911ENST00000216194+41385_87160485.0RegionNote=Substrate binding
HgeneADSLchr22:40750331chr22:40807911ENST00000342312+412111_112160426.0RegionNote=Substrate binding
HgeneADSLchr22:40750331chr22:40807911ENST00000342312+41220_21160426.0RegionNote=Substrate binding%3B shared with neighboring subunit
HgeneADSLchr22:40750331chr22:40807911ENST00000342312+41285_87160426.0RegionNote=Substrate binding

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneMKL1chr22:40750331chr22:40807911ENST000003556301315515_563759932.0Coiled coilOntology_term=ECO:0000255
TgeneMKL1chr22:40750331chr22:40807911ENST000004070291012515_563759932.0Coiled coilOntology_term=ECO:0000255
TgeneMKL1chr22:40750331chr22:40807911ENST000003556301315264_286759932.0Compositional biasNote=Gln-rich
TgeneMKL1chr22:40750331chr22:40807911ENST000003556301315564_811759932.0Compositional biasNote=Pro-rich
TgeneMKL1chr22:40750331chr22:40807911ENST000004070291012264_286759932.0Compositional biasNote=Gln-rich
TgeneMKL1chr22:40750331chr22:40807911ENST000004070291012564_811759932.0Compositional biasNote=Pro-rich
TgeneMKL1chr22:40750331chr22:40807911ENST000003556301315347_381759932.0DomainSAP
TgeneMKL1chr22:40750331chr22:40807911ENST000004070291012347_381759932.0DomainSAP
TgeneMKL1chr22:40750331chr22:40807911ENST00000355630131550_67759932.0RegionIntervening spacer sequence 2
TgeneMKL1chr22:40750331chr22:40807911ENST0000035563013156_23759932.0RegionIntervening spacer sequence 1
TgeneMKL1chr22:40750331chr22:40807911ENST00000407029101250_67759932.0RegionIntervening spacer sequence 2
TgeneMKL1chr22:40750331chr22:40807911ENST0000040702910126_23759932.0RegionIntervening spacer sequence 1
TgeneMKL1chr22:40750331chr22:40807911ENST00000355630131524_49759932.0RepeatNote=RPEL 1
TgeneMKL1chr22:40750331chr22:40807911ENST00000355630131568_93759932.0RepeatNote=RPEL 2
TgeneMKL1chr22:40750331chr22:40807911ENST00000407029101224_49759932.0RepeatNote=RPEL 1
TgeneMKL1chr22:40750331chr22:40807911ENST00000407029101268_93759932.0RepeatNote=RPEL 2


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Fusion Gene Sequence for ADSL-MKL1


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.

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Fusion Gene PPI Analysis for ADSL-MKL1


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 ADSL-MKL1


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 ADSL-MKL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneADSLC0268126Adenylosuccinate lyase deficiency (disorder)11CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
HgeneADSLC4721811Adenylosuccinate lyase deficiency type 13CTD_human
HgeneADSLC4721812Adenylosuccinate lyase deficiency type 43CTD_human
HgeneADSLC4721813Adenylosuccinate lyase deficiency type 33CTD_human
HgeneADSLC4721814Adenylosuccinate lyase deficiency type 23CTD_human
HgeneADSLC0004352Autistic Disorder1CTD_human
HgeneADSLC0543888Epileptic encephalopathy1GENOMICS_ENGLAND
HgeneADSLC3714756Intellectual Disability1GENOMICS_ENGLAND