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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: 22142

FusionGeneSummary for MLKL_TMEM231

check button Fusion gene summary
Fusion gene informationFusion gene name: MLKL_TMEM231
Fusion gene ID: 22142
HgeneTgene
Gene symbol

MLKL

TMEM231

Gene ID

197259

79583

Gene namemixed lineage kinase domain like pseudokinasetransmembrane protein 231
SynonymshMLKLALYE870|JBTS20|MKS11|PRO1886
Cytomap

16q23.1

16q23.1

Type of geneprotein-codingprotein-coding
Descriptionmixed lineage kinase domain-like proteintransmembrane protein 231
Modification date2018052320180523
UniProtAcc

Q8NB16

Q9H6L2

Ensembl transtripts involved in fusion geneENST00000306247, ENST00000308807, 
ENST00000258173, ENST00000568377, 
ENST00000565067, ENST00000569294, 
Fusion gene scores* DoF score2 X 2 X 2=82 X 2 X 2=8
# samples 22
** MAII scorelog2(2/8*10)=1.32192809488736log2(2/8*10)=1.32192809488736
Context

PubMed: MLKL [Title/Abstract] AND TMEM231 [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
HgeneMLKL

GO:0070207

protein homotrimerization

24316671


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
TCGALDLUSCTCGA-NC-A5HK-01AMLKLchr16

74706166

-TMEM231chr16

75573782

-
* 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-3UTRENST00000306247ENST00000258173MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-3UTRENST00000306247ENST00000568377MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-3UTRENST00000306247ENST00000565067MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-intronENST00000306247ENST00000569294MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-3UTRENST00000308807ENST00000258173MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-3UTRENST00000308807ENST00000568377MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-3UTRENST00000308807ENST00000565067MLKLchr16

74706166

-TMEM231chr16

75573782

-
intron-intronENST00000308807ENST00000569294MLKLchr16

74706166

-TMEM231chr16

75573782

-

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FusionProtFeatures for MLKL_TMEM231


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

Q8NB16

TMEM231

Q9H6L2

Pseudokinase that plays a key role in TNF-inducednecroptosis, a programmed cell death process. Activated followingphosphorylation by RIPK3, leading to homotrimerization,localization to the plasma membrane and execution of programmednecrosis characterized by calcium influx and plasma membranedamage. Does not have protein kinase activity.{ECO:0000269|PubMed:22265413, ECO:0000269|PubMed:22265414,ECO:0000269|PubMed:22421439, ECO:0000269|PubMed:24316671}. Transmembrane component of the tectonic-like complex, acomplex localized at the transition zone of primary cilia andacting as a barrier that prevents diffusion of transmembraneproteins between the cilia and plasma membranes. Required forciliogenesis and sonic hedgehog/SHH signaling (By similarity).{ECO:0000250}.

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 MLKL_TMEM231


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 MLKL_TMEM231


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
MLKLPITPNA, ANAPC11, CDK1, NDUFB7, RAD18, THOC3, CASP8, GLG1, SRA1, PARP16, LRCH3, ZNF281, SNW1, TRAF2, RIPK1, RIPK3TMEM231FBXO6, KRT31, KRT40, NOTCH2NL, NDFIP2, LSR, TCTN2, NDFIP1, MFAP3, ATP2C1, RAB9A, LAPTM4B, NHLRC3, PLEKHB2, B9D1, RNF149, B9D2, FGFR3, UGCG, PTPRS, CSNK1G2, TNFRSF10B, EPHA7, EPHA3, PI4K2A, MKS1, LRP10, RNF130, SYNE4, BTNL8, HTR3C, TCTN1, NCEH1, ASIC4, CHRNA3, UPK1A, ADIPOR1, POSTN


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 MLKL_TMEM231


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 MLKL_TMEM231


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneTMEM231C3554235JOUBERT SYNDROME 202UNIPROT
TgeneTMEM231C3809352MECKEL SYNDROME, TYPE 111UNIPROT