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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: 21626

FusionGeneSummary for MEI1_MKL1

check button Fusion gene summary
Fusion gene informationFusion gene name: MEI1_MKL1
Fusion gene ID: 21626
HgeneTgene
Gene symbol

MEI1

MKL1

Gene ID

150365

57591

Gene namemeiotic double-stranded break formation protein 1megakaryoblastic leukemia (translocation) 1
SynonymsSPATA38BSAC|MAL|MKL|MRTF-A
Cytomap

22q13.2

22q13.1-q13.2

Type of geneprotein-codingprotein-coding
Descriptionmeiosis inhibitor protein 1meiosis defective 1meiosis defective protein 1meiosis inhibitor 1spermatogenesis associated 38MKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor A
Modification date2018052320180524
UniProtAcc

Q5TIA1

Q969V6

Ensembl transtripts involved in fusion geneENST00000401548, ENST00000540833, 
ENST00000400107, ENST00000300398, 
ENST00000540880, ENST00000476893, 
ENST00000355630, ENST00000396617, 
ENST00000402042, ENST00000466278, 
ENST00000407029, ENST00000402630, 
Fusion gene scores* DoF score1 X 1 X 1=112 X 11 X 5=660
# samples 115
** MAII scorelog2(1/1*10)=3.32192809488736log2(15/660*10)=-2.13750352374993
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MEI1 [Title/Abstract] AND MKL1 [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
TgeneMKL1

GO:0010735

positive regulation of transcription via serum response element binding

24440334

TgeneMKL1

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
TCGARVSKCMTCGA-XV-A9W2-01AMEI1chr22

42159325

+MKL1chr22

40859290

-
* 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-5UTRENST00000401548ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000401548ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000401548ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-intronENST00000401548ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000401548ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000401548ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540833ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540833ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540833ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-intronENST00000540833ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540833ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540833ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000400107ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000400107ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000400107ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-intronENST00000400107ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000400107ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000400107ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-5UTRENST00000300398ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-5UTRENST00000300398ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-5UTRENST00000300398ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-intronENST00000300398ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-5UTRENST00000300398ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
5UTR-5UTRENST00000300398ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540880ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540880ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540880ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-intronENST00000540880ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540880ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
5CDS-5UTRENST00000540880ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-5UTRENST00000476893ENST00000355630MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-5UTRENST00000476893ENST00000396617MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-5UTRENST00000476893ENST00000402042MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-intronENST00000476893ENST00000466278MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-5UTRENST00000476893ENST00000407029MEI1chr22

42159325

+MKL1chr22

40859290

-
intron-5UTRENST00000476893ENST00000402630MEI1chr22

42159325

+MKL1chr22

40859290

-

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FusionProtFeatures for MEI1_MKL1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MEI1

Q5TIA1

MKL1

Q969V6

Required for normal meiotic chromosome synapsis. May beinvolved in the formation of meiotic double-strand breaks (DSBs)in spermatocytes (By similarity). {ECO:0000250|UniProtKB:Q9D4I2}. 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}.

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 MEI1_MKL1


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 MEI1_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
MEI1NEDD8MKL1MYOCD, SRF, MKL2, SUPT16H, SSRP1, KDM3A, SMARCA4, GSK3B, SMAD3, ACTB, MVP, NXF1, NCOA3, KIAA0753, CEP63, CEP19, LCA5, RPGRIP1, TCTN1, XPO1, DNMT1, EP300, BCL7A, TRIM25


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 MEI1_MKL1


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 MEI1_MKL1


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