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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: 20723

FusionGeneSummary for MAMLD1_MAMLD1

check button Fusion gene summary
Fusion gene informationFusion gene name: MAMLD1_MAMLD1
Fusion gene ID: 20723
HgeneTgene
Gene symbol

MAMLD1

MAMLD1

Gene ID

10046

10046

Gene namemastermind like domain containing 1mastermind like domain containing 1
SynonymsCG1|CXorf6|F18|HYSP2CG1|CXorf6|F18|HYSP2
Cytomap

Xq28

Xq28

Type of geneprotein-codingprotein-coding
Descriptionmastermind-like domain-containing protein 1mastermind-like domain-containing protein 1
Modification date2018051920180519
UniProtAcc

Q13495

Q13495

Ensembl transtripts involved in fusion geneENST00000468306, ENST00000370401, 
ENST00000432680, ENST00000262858, 
ENST00000426613, ENST00000455522, 
ENST00000468306, ENST00000370401, 
ENST00000432680, ENST00000262858, 
ENST00000426613, ENST00000455522, 
Fusion gene scores* DoF score2 X 2 X 1=45 X 4 X 3=60
# samples 36
** MAII scorelog2(3/4*10)=2.90689059560852log2(6/60*10)=0
Context

PubMed: MAMLD1 [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
ChiTaRS3.1AI038626MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
ChiTaRS3.1AA779765MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
* 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-intronENST00000468306ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000468306ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000468306ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000468306ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000468306ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-intronENST00000468306ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000370401ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000370401ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000370401ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000370401ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000370401ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000370401ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000432680ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000432680ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000432680ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000432680ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000432680ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000432680ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000262858ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000262858ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000262858ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000262858ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000262858ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000262858ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000426613ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000426613ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000426613ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000426613ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-3UTRENST00000426613ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
5CDS-intronENST00000426613ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-intronENST00000455522ENST00000468306MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000455522ENST00000370401MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000455522ENST00000432680MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000455522ENST00000262858MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-3UTRENST00000455522ENST00000426613MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-
intron-intronENST00000455522ENST00000455522MAMLD1chrX

149638876

-MAMLD1chrX

149681165

-

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FusionProtFeatures for MAMLD1_MAMLD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAMLD1

Q13495

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}. 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 MAMLD1_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 MAMLD1_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 MAMLD1_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 MAMLD1_MAMLD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMAMLD1C0848558Hypospadias1CTD_human
TgeneMAMLD1C0848558Hypospadias1CTD_human