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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 22079

FusionGeneSummary for MKL1_SLC25A17

check button Fusion gene summary
Fusion gene informationFusion gene name: MKL1_SLC25A17
Fusion gene ID: 22079
HgeneTgene
Gene symbol

MKL1

SLC25A17

Gene ID

57591

10478

Gene namemegakaryoblastic leukemia (translocation) 1solute carrier family 25 member 17
SynonymsBSAC|MAL|MKL|MRTF-APMP34
Cytomap

22q13.1-q13.2

22q13.2

Type of geneprotein-codingprotein-coding
DescriptionMKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor Aperoxisomal membrane protein PMP34solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17
Modification date2018052420180523
UniProtAcc

Q969V6

O43808

Ensembl transtripts involved in fusion geneENST00000355630, ENST00000396617, 
ENST00000402042, ENST00000466278, 
ENST00000407029, ENST00000402630, 
ENST00000491545, ENST00000435456, 
ENST00000402844, ENST00000544408, 
ENST00000542412, 
Fusion gene scores* DoF score19 X 11 X 13=27175 X 2 X 7=70
# samples 268
** MAII scorelog2(26/2717*10)=-3.38543103719352
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(8/70*10)=0.192645077942396
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: MKL1 [Title/Abstract] AND SLC25A17 [Title/Abstract] AND fusion [Title/Abstract]

Functional or gene categories assigned by FusionGDB annotation
* 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
HgeneMKL1

GO:0010735

positive regulation of transcription via serum response element binding

24440334

HgeneMKL1

GO:0045944

positive regulation of transcription by RNA polymerase II

14970199


check button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVACCTCGA-OR-A5J7-01AMKL1chr22

40859225

-SLC25A17chr22

41175129

-
TCGARVCESCTCGA-UC-A7PF-01AMKL1chr22

41032482

-SLC25A17chr22

41175129

-
TCGARVLUSCTCGA-60-2706-01AMKL1chr22

40990678

-SLC25A17chr22

41195087

-
TCGARVSTADTCGA-B7-A5TN-01AMKL1chr22

40948110

-SLC25A17chr22

41175129

-
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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-5UTRENST00000355630ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000355630ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000355630ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000355630ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000355630ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000396617ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000396617ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000396617ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000396617ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000396617ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402042ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402042ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402042ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402042ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402042ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
intron-5UTRENST00000466278ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
intron-5UTRENST00000466278ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
intron-5UTRENST00000466278ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
intron-5UTRENST00000466278ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
intron-5UTRENST00000466278ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000407029ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000407029ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000407029ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000407029ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000407029ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402630ENST00000491545MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402630ENST00000435456MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402630ENST00000402844MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402630ENST00000544408MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5CDS-5UTRENST00000402630ENST00000542412MKL1chr22

40859225

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000491545MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000435456MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000402844MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000544408MKL1chr22

41032482

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000542412MKL1chr22

41032482

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000355630ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-intronENST00000355630ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000355630ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000355630ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000396617ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000396617ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-intronENST00000396617ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000396617ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000396617ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000402042ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000402042ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-intronENST00000402042ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000402042ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000402042ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000466278ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000466278ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-intronENST00000466278ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000466278ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000466278ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000407029ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000407029ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-intronENST00000407029ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000407029ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000407029ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000402630ENST00000491545MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000402630ENST00000435456MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-intronENST00000402630ENST00000402844MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000402630ENST00000544408MKL1chr22

40990678

-SLC25A17chr22

41195087

-
intron-5UTRENST00000402630ENST00000542412MKL1chr22

40990678

-SLC25A17chr22

41195087

-
5UTR-5UTRENST00000355630ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000355630ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000396617ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000402042ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
5UTR-5UTRENST00000466278ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000407029ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000491545MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000435456MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000402844MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000544408MKL1chr22

40948110

-SLC25A17chr22

41175129

-
intron-5UTRENST00000402630ENST00000542412MKL1chr22

40948110

-SLC25A17chr22

41175129

-

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FusionProtFeatures for MKL1_SLC25A17


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MKL1

Q969V6

SLC25A17

O43808

Transcriptional coactivator of serum response factor(SRF) with the potential to modulate SRF target genes. SuppressesTNF-induced cell death by inhibiting activation of caspases; itstranscriptional activity is indispensable for the antiapoptoticfunction. It may up-regulate antiapoptotic molecules, which inturn inhibit caspase activation (By similarity). {ECO:0000250}. Peroxisomal transporter for multiple cofactors likecoenzyme A (CoA), flavin adenine dinucleotide (FAD), flavinmononucleotide (FMN) and nucleotide adenosine monophosphate (AMP),and to a lesser extent for nicotinamide adenine dinucleotide(NAD(+)), adenosine diphosphate (ADP) and adenosine 3',5'-diphosphate (PAP). May catalyze the transport of free CoA, FAD andNAD(+) from the cytosol into the peroxisomal matrix by a counter-exchange mechanism. Inhibited by pyridoxal 5'-phosphate andbathophenanthroline in vitro. {ECO:0000269|PubMed:12445829,ECO:0000269|PubMed:22185573}.

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

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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FusionGeneSequence for MKL1_SLC25A17


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI for MKL1_SLC25A17


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
MKL1MYOCD, SRF, MKL2, SUPT16H, SSRP1, KDM3A, SMARCA4, GSK3B, SMAD3, ACTB, MVP, NXF1, NCOA3, KIAA0753, CEP63, CEP19, LCA5, RPGRIP1, TCTN1, XPO1, DNMT1, EP300, BCL7A, TRIM25SLC25A17PEX19, ILF3, ESYT2, FUT8, HNRNPU, EVPL, HNRNPUL2, UQCRB, SAMM50, HECW2, MOV10, NXF1, PTH1R, EIF3F, GNAI2, SLC39A4, SGCA, ERGIC3, TCTN3, VSIG1, TMCO3, C3AR1, SLC39A9, RANBP6, SLC39A12, LRRC8B, NPY2R, VIPR1, SCGB2A2, SLC1A1


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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RelatedDrugs for MKL1_SLC25A17


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for MKL1_SLC25A17


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