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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: 38866

FusionGeneSummary for TNFRSF21_MAMLD1

check button Fusion gene summary
Fusion gene informationFusion gene name: TNFRSF21_MAMLD1
Fusion gene ID: 38866
HgeneTgene
Gene symbol

TNFRSF21

MAMLD1

Gene ID

27242

10046

Gene nameTNF receptor superfamily member 21mastermind like domain containing 1
SynonymsBM-018|CD358|DR6CG1|CXorf6|F18|HYSP2
Cytomap

6p12.3

Xq28

Type of geneprotein-codingprotein-coding
Descriptiontumor necrosis factor receptor superfamily member 21TNFR-related death receptor 6death receptor 6mastermind-like domain-containing protein 1
Modification date2018052320180519
UniProtAcc

O75509

Q13495

Ensembl transtripts involved in fusion geneENST00000296861, ENST00000468306, 
ENST00000370401, ENST00000432680, 
ENST00000262858, ENST00000426613, 
ENST00000455522, 
Fusion gene scores* DoF score1 X 1 X 1=15 X 4 X 3=60
# samples 16
** MAII scorelog2(1/1*10)=3.32192809488736log2(6/60*10)=0
Context

PubMed: TNFRSF21 [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
HgeneTNFRSF21

GO:0071356

cellular response to tumor necrosis factor

19654028


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
ChiTaRS3.1BE720121TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
* 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-intronENST00000296861ENST00000468306TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
intron-intronENST00000296861ENST00000370401TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
intron-intronENST00000296861ENST00000432680TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
intron-intronENST00000296861ENST00000262858TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
intron-intronENST00000296861ENST00000426613TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+
intron-intronENST00000296861ENST00000455522TNFRSF21chr6

47253752

-MAMLD1chrX

149540925

+

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FusionProtFeatures for TNFRSF21_MAMLD1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
TNFRSF21

O75509

MAMLD1

Q13495

Promotes apoptosis, possibly via a pathway that involvesthe activation of NF-kappa-B. Can also promote apoptosis mediatedby BAX and by the release of cytochrome c from the mitochondriainto the cytoplasm. Plays a role in neuronal apoptosis, includingapoptosis in response to amyloid peptides derived from APP, and isrequired for both normal cell body death and axonal pruning.Trophic-factor deprivation triggers the cleavage of surface APP bybeta-secretase to release sAPP-beta which is further cleaved torelease an N-terminal fragment of APP (N-APP). N-APP bindsTNFRSF21; this triggers caspase activation and degeneration ofboth neuronal cell bodies (via caspase-3) and axons (via caspase-6). Negatively regulates oligodendrocyte survival, maturation andmyelination. Plays a role in signaling cascades triggered bystimulation of T-cell receptors, in the adaptive immune responseand in the regulation of T-cell differentiation and proliferation.Negatively regulates T-cell responses and the release of cytokinessuch as IL4, IL5, IL10, IL13 and IFNG by Th2 cells. Negativelyregulates the production of IgG, IgM and IgM in response toantigens. May inhibit the activation of JNK in response to T-cellstimulation. {ECO:0000269|PubMed:21725297,ECO:0000269|PubMed:22761420, ECO:0000269|PubMed:9714541}. 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 TNFRSF21_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 TNFRSF21_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 TNFRSF21_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 TNFRSF21_MAMLD1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneTNFRSF21C0002736Amyotrophic Lateral Sclerosis1CTD_human
HgeneTNFRSF21C0017639Gliosis1CTD_human
HgeneTNFRSF21C0033578Prostatic Neoplasms1CTD_human
TgeneMAMLD1C0848558Hypospadias1CTD_human