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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: 30285

FusionGeneSummary for RALGDS_MAMLD1

check button Fusion gene summary
Fusion gene informationFusion gene name: RALGDS_MAMLD1
Fusion gene ID: 30285
HgeneTgene
Gene symbol

RALGDS

MAMLD1

Gene ID

5900

10046

Gene nameral guanine nucleotide dissociation stimulatormastermind like domain containing 1
SynonymsRGDS|RGF|RalGEFCG1|CXorf6|F18|HYSP2
Cytomap

9q34.13-q34.2

Xq28

Type of geneprotein-codingprotein-coding
Descriptionral guanine nucleotide dissociation stimulatorral guanine nucleotide exchange factormastermind-like domain-containing protein 1
Modification date2018051920180519
UniProtAcc

Q12967

Q13495

Ensembl transtripts involved in fusion geneENST00000469972, ENST00000372047, 
ENST00000372050, ENST00000393160, 
ENST00000393157, ENST00000542690, 
ENST00000372062, 
ENST00000468306, 
ENST00000370401, ENST00000432680, 
ENST00000262858, ENST00000426613, 
ENST00000455522, 
Fusion gene scores* DoF score2 X 3 X 1=65 X 4 X 3=60
# samples 36
** MAII scorelog2(3/6*10)=2.32192809488736log2(6/60*10)=0
Context

PubMed: RALGDS [Title/Abstract] AND MAMLD1 [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

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
ChiTaRS3.1DA107579RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
* 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-intronENST00000469972ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000469972ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000469972ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000469972ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000469972ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000469972ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372047ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372050ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393160ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000393157ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000542690ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000468306RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000370401RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000432680RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000262858RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000426613RALGDSchr9

135976437

-MAMLD1chrX

149638806

+
intron-intronENST00000372062ENST00000455522RALGDSchr9

135976437

-MAMLD1chrX

149638806

+

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FusionProtFeatures for RALGDS_MAMLD1


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

Q12967

MAMLD1

Q13495

Transactivates the HES3 promoter independently of NOTCHproteins. HES3 is a non-canonical NOTCH target gene which lacksbinding sites for RBPJ. {ECO:0000269|PubMed:18162467}.

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 RALGDS_MAMLD1


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 RALGDS_MAMLD1


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 RALGDS_MAMLD1


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 RALGDS_MAMLD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneRALGDSC3714756Intellectual Disability1CTD_human
TgeneMAMLD1C0848558Hypospadias1CTD_human