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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: 16956

FusionGeneSummary for HUNK_MAMLD1

check button Fusion gene summary
Fusion gene informationFusion gene name: HUNK_MAMLD1
Fusion gene ID: 16956
HgeneTgene
Gene symbol

HUNK

MAMLD1

Gene ID

30811

10046

Gene namehormonally up-regulated Neu-associated kinasemastermind like domain containing 1
Synonyms-CG1|CXorf6|F18|HYSP2
Cytomap

21q22.11

Xq28

Type of geneprotein-codingprotein-coding
Descriptionhormonally up-regulated neu tumor-associated kinaseB19hormonally upregulated Neu-associated kinasehormonally upregulated neu tumor-associated kinaseserine/threonine protein kinase MAK-Vmastermind-like domain-containing protein 1
Modification date2018052320180519
UniProtAcc

P57058

Q13495

Ensembl transtripts involved in fusion geneENST00000270112, ENST00000465574, 
ENST00000468306, ENST00000370401, 
ENST00000432680, ENST00000262858, 
ENST00000426613, ENST00000455522, 
Fusion gene scores* DoF score3 X 3 X 3=275 X 4 X 3=60
# samples 36
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(6/60*10)=0
Context

PubMed: HUNK [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
TCGARVKIRCTCGA-CJ-5681-01AHUNKchr21

33246248

+MAMLD1chrX

149638017

+
* 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-3UTRENST00000270112ENST00000468306HUNKchr21

33246248

+MAMLD1chrX

149638017

+
5CDS-3UTRENST00000270112ENST00000370401HUNKchr21

33246248

+MAMLD1chrX

149638017

+
5CDS-3UTRENST00000270112ENST00000432680HUNKchr21

33246248

+MAMLD1chrX

149638017

+
5CDS-3UTRENST00000270112ENST00000262858HUNKchr21

33246248

+MAMLD1chrX

149638017

+
5CDS-3UTRENST00000270112ENST00000426613HUNKchr21

33246248

+MAMLD1chrX

149638017

+
5CDS-intronENST00000270112ENST00000455522HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-3UTRENST00000465574ENST00000468306HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-3UTRENST00000465574ENST00000370401HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-3UTRENST00000465574ENST00000432680HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-3UTRENST00000465574ENST00000262858HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-3UTRENST00000465574ENST00000426613HUNKchr21

33246248

+MAMLD1chrX

149638017

+
intron-intronENST00000465574ENST00000455522HUNKchr21

33246248

+MAMLD1chrX

149638017

+

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FusionProtFeatures for HUNK_MAMLD1


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

P57058

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 HUNK_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 HUNK_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
HUNKRABEP1, LNX1, GRB2MAMLD1MTNR1A


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 HUNK_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 HUNK_MAMLD1


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