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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: 20692

FusionGeneSummary for MAL_RGL1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAL_RGL1
Fusion gene ID: 20692
HgeneTgene
Gene symbol

MAL

RGL1

Gene ID

57591

64333

Gene namemegakaryoblastic leukemia (translocation) 1Rho GTPase activating protein 9
SynonymsBSAC|MAL|MKL|MRTF-A10C|RGL1
Cytomap

22q13.1-q13.2

12q13.3

Type of geneprotein-codingprotein-coding
DescriptionMKL/myocardin-like protein 1basic, SAP and coiled-coil domainmegakaryoblastic leukemia 1 proteinmegakaryocytic acute leukemia proteinmyocardin-related transcription factor Arho GTPase-activating protein 9rho-type GTPase-activating protein 9
Modification date2018052420180523
UniProtAcc

P21145

Q9NZL6

Ensembl transtripts involved in fusion geneENST00000489399, ENST00000309988, 
ENST00000349807, ENST00000354078, 
ENST00000353004, 		ENST00000304685, 
ENST00000536277, ENST00000360851, 
ENST00000539189, 
Fusion gene scores* DoF score2 X 2 X 1=46 X 5 X 5=150
# samples 26
** MAII scorelog2(2/4*10)=2.32192809488736log2(6/150*10)=-1.32192809488736
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MAL [Title/Abstract] AND RGL1 [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
HgeneMAL

GO:0010735

positive regulation of transcription via serum response element binding

24440334

HgeneMAL

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
ChiTaRS3.1AW950587MALchr2

95719445

-RGL1chr1

183896740

+
* 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
intron-3UTRENST00000489399ENST00000304685MALchr2

95719445

-RGL1chr1

183896740

+
intron-intronENST00000489399ENST00000536277MALchr2

95719445

-RGL1chr1

183896740

+
intron-3UTRENST00000489399ENST00000360851MALchr2

95719445

-RGL1chr1

183896740

+
intron-intronENST00000489399ENST00000539189MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000309988ENST00000304685MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000309988ENST00000536277MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000309988ENST00000360851MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000309988ENST00000539189MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000349807ENST00000304685MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000349807ENST00000536277MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000349807ENST00000360851MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000349807ENST00000539189MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000354078ENST00000304685MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000354078ENST00000536277MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000354078ENST00000360851MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000354078ENST00000539189MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000353004ENST00000304685MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000353004ENST00000536277MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-3UTRENST00000353004ENST00000360851MALchr2

95719445

-RGL1chr1

183896740

+
3UTR-intronENST00000353004ENST00000539189MALchr2

95719445

-RGL1chr1

183896740

+

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FusionProtFeatures for MAL_RGL1


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

P21145

RGL1

Q9NZL6

Could be an important component in vesicular traffickingcycling between the Golgi complex and the apical plasma membrane.Could be involved in myelin biogenesis and/or myelin function. Probable guanine nucleotide exchange factor.

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 MAL_RGL1


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 MAL_RGL1


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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RelatedDrugs for MAL_RGL1


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 MAL_RGL1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMALC0007137Squamous cell carcinoma1CTD_human
HgeneMALC0018671Head and Neck Neoplasms1CTD_human
HgeneMALC1458155Mammary Neoplasms1CTD_human