UTHEALTH HOME    ABOUT SBMI    A-Z    WEBMAIL    INSIDE THE UNIVERSITY
FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Terms of Use

Center for Computational Systems Medicine level1
leaf

Fusion Gene Summary

leaf

Fusion Gene Sample Information

leaf

Fusion ORF Analysis

leaf

Fusion Amino Acid Sequences

leaf

Fusion Protein Functional Features

leaf

Fusion Protein-Protein Interaction

leaf

Related drugs with this fusion protein

leaf

Related disease with this fusion protein

Fusion Protein:MAST2-CARD16

Fusion Protein Summary

check button Fusion gene summary
Fusion partner gene informationFusion gene name: MAST2-CARD16
FusionPDB ID: 51818
FusionGDB2.0 ID: 51818
HgeneTgene
Gene symbol

MAST2

CARD16

Gene ID

23139

114769

Gene namemicrotubule associated serine/threonine kinase 2caspase recruitment domain family member 16
SynonymsMAST205|MTSSKCOP|COP1|PSEUDO-ICE
Cytomap

1p34.1

11q22.3

Type of geneprotein-codingprotein-coding
Descriptionmicrotubule-associated serine/threonine-protein kinase 2microtubule associated testis specific serine/threonine protein kinasecaspase recruitment domain-containing protein 16CARD only domain-containing protein 1CARD only proteinCARD-only protein 1caspase recruitment domain-only protein 1caspase-1 dominant-negative inhibitor pseudo-ICEcaspase-1 inhibitor COPpseudo interleu
Modification date2020031320200320
UniProtAcc

Q6P0Q8

.
Ensembl transtripts involved in fusion geneENST idsENST00000361297, ENST00000372009, 
ENST00000477968, 
ENST00000375704, 
ENST00000525374, ENST00000375706, 
Fusion gene scores for assessment (based on all fusion genes of FusionGDB 2.0)* DoF score25 X 15 X 13=48753 X 2 X 3=18
# samples 283
** MAII scorelog2(28/4875*10)=-4.12190348657937
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/18*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context (manual curation of fusion genes in FusionPDB)

PubMed: MAST2 [Title/Abstract] AND CARD16 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpoint (based on all fusion genes of FusionGDB 2.0)MAST2(46489652)-CARD16(104915385), # samples:1
Anticipated loss of major functional domain due to fusion event.MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a IUPHAR drug target due to the frame-shifted ORF.
MAST2-CARD16 seems lost the major protein functional domain in Hgene partner, which is a kinase due to the frame-shifted ORF.
* 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
TgeneCARD16

GO:0031665

negative regulation of lipopolysaccharide-mediated signaling pathway

11432859

TgeneCARD16

GO:0032091

negative regulation of protein binding

11432859|11536016

TgeneCARD16

GO:0043123

positive regulation of I-kappaB kinase/NF-kappaB signaling

15383541

TgeneCARD16

GO:0043154

negative regulation of cysteine-type endopeptidase activity involved in apoptotic process

16920334

TgeneCARD16

GO:0050713

negative regulation of interleukin-1 beta secretion

11432859|11536016|15383541|16920334

TgeneCARD16

GO:0051092

positive regulation of NF-kappaB transcription factor activity

11536016

TgeneCARD16

GO:0071222

cellular response to lipopolysaccharide

15383541

TgeneCARD16

GO:0071456

cellular response to hypoxia

16920334

TgeneCARD16

GO:0071494

cellular response to UV-C

16920334

TgeneCARD16

GO:0097340

inhibition of cysteine-type endopeptidase activity

11432859


check buttonFusion gene breakpoints across MAST2 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across CARD16 (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure


Top

Fusion Gene Sample Information

check buttonFusion gene information from FusionGDB2.0.
check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChimerDB4HNSCTCGA-CV-7235-01AMAST2chr1

46489652

+CARD16chr11

104915385

-


Top

Fusion ORF Analysis


check buttonFusion information from ORFfinder translation from full-length transcript sequence from FusionPDB.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000372009MAST2chr146489652+ENST00000375706CARD16chr11104915385-251418532832439718
ENST00000361297MAST2chr146489652+ENST00000375706CARD16chr11104915385-272420632832649788

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000372009ENST00000375706MAST2chr146489652+CARD16chr11104915385-0.0284818750.9715181
ENST00000361297ENST00000375706MAST2chr146489652+CARD16chr11104915385-0.016533240.9834668

Top

Fusion Amino Acid Sequences


check button For individual full-length fusion transcript sequence from FusionPDB, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>FusionGDB ID_FusionGDB isoform ID_FGname_Hgene_Hchr_Hbp_Henst_Tgene_Tchr_Tbp_Tenst_length(fusion AA) seq_BP

>51818_51818_1_MAST2-CARD16_MAST2_chr1_46489652_ENST00000361297_CARD16_chr11_104915385_ENST00000375706_length(amino acids)=788AA_BP=593
MKRSRCRDRPQPPPPDRREDGVQRAAELSQSLPPRRRAPPGRQRLEERTGPAGPEGKEQDVVTGVSPLLFRKLSNPDIFSSTGKVKLQRQ
LSQDDCKLWRGNLASSLSGKQLLPLSSSVHSSVGQVTWQSSGEASNLVRMRNQSLGQSAPSLTAGLKELSLPRRGSFCRTSNRKSLIVTS
STSPTLPRPHSPLHGHTGNSPLDSPRNFSPNAPAHFSFVPARRTDGRRWSLASLPSSGYGTNTPSSTVSSSCSSQEKLHQLPFQPTADEL
HFLTKHFSTESVPDEEGRQSPAMRPRSRSLSPGRSPVSFDSEIIMMNHVYKERFPKATAQMEERLAEFISSNTPDSVLPLADGALSFIHH
QVIEMARDCLDKSRSGLITSQYFYELQDNLEKLLQDAHERSESSEVAFVMQLVKKLMIIIARPARLLECLEFDPEEFYHLLEAAEGHAKE
GQGIKCDIPRYIVSQLGLTRDPLEEMAQLSSCDSPDTPETDDSIEGHGASLPSKKTPSEEDFETIKLISNGAYGAVFLVRHKSTRQRFAM
KKINKQNLILRNQIQQAFVERDILTFAENPFVVSMFCSFDTKRHLCMVMEYVEDKVLKEKRKLFIHSMGEGTINGLLDELLQTRVLNQEE
MEKVKRENATVMDKTRALIDSVIPKGAQACQICITYICEEDSYLAETLGLSAALQAVQDNPAMPTCSSPEGRIKLCFLEDAQRIWKQKLQ

--------------------------------------------------------------

>51818_51818_2_MAST2-CARD16_MAST2_chr1_46489652_ENST00000372009_CARD16_chr11_104915385_ENST00000375706_length(amino acids)=718AA_BP=523
MKRSRCRDRPQPPPPDRREDGVQRAAELSQSLPPRRRAPPGRQRLEERTGPAGPEGKEQDVVTGVSPLLFRKLSNPDIFSSTGKVKLQRQ
LSQDDCKLWRGNLASSLSGKQLLPLSSSVHSSVGQVTWQSSGEASNLVRMRNQSLGQSAPSLTAGLKELSLPRRGSFCRTSNRKSLIVTS
STSPTLPRPHSPLHGHTGNSPLDSPRNFSPNAPAHFSFVPARRTDGRRWSLASLPSSGYGTNTPSSTVSSSCSSQEKLHQLPFQPTADEL
HFLTKHFSTESVPDEEGRQSPAMRPRSRSLSPGRSPVSFDSEIIMMNHVYKERFPKAHERSESSEVAFVMQLVKKLMIIIARPARLLECL
EFDPEEFYHLLEAAEGHAKEGQGIKCDIPRYIVSQLGLTRDPLEEMAQLSSCDSPDTPETDDSIEGHGASLPSKKTPSEEDFETIKLISN
GAYGAVFLVRHKSTRQRFAMKKINKQNLILRNQIQQAFVERDILTFAENPFVVSMFCSFDTKRHLCMVMEYVEDKVLKEKRKLFIHSMGE
GTINGLLDELLQTRVLNQEEMEKVKRENATVMDKTRALIDSVIPKGAQACQICITYICEEDSYLAETLGLSAALQAVQDNPAMPTCSSPE

--------------------------------------------------------------

Top

Fusion Protein Functional Features


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr1:46489652/chr11:104915385)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MAST2

Q6P0Q8

.
FUNCTION: Appears to link the dystrophin/utrophin network with microtubule filaments via the syntrophins. Phosphorylation of DMD or UTRN may modulate their affinities for associated proteins. Functions in a multi-protein complex in spermatid maturation. Regulates lipopolysaccharide-induced IL-12 synthesis in macrophages by forming a complex with TRAF6, resulting in the inhibition of TRAF6 NF-kappa-B activation (By similarity). {ECO:0000250}.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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.
- Retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAST2chr1:46489652chr11:104915385ENST00000361297+1529518_526593.33333333333341799.0Nucleotide bindingATP
TgeneCARD16chr1:46489652chr11:104915385ENST00000375704041_912.333333333333333567.0DomainCARD
TgeneCARD16chr1:46489652chr11:104915385ENST00000375706031_912.3333333333333335198.0DomainCARD
TgeneCARD16chr1:46489652chr11:104915385ENST00000525374041_912.333333333333333571.66666666666667DomainCARD

- Not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMAST2chr1:46489652chr11:104915385ENST00000361297+15291104_1192593.33333333333341799.0DomainPDZ
HgeneMAST2chr1:46489652chr11:104915385ENST00000361297+1529512_785593.33333333333341799.0DomainProtein kinase
HgeneMAST2chr1:46489652chr11:104915385ENST00000361297+1529786_854593.33333333333341799.0DomainAGC-kinase C-terminal


Top

Fusion Protein-Protein Interaction


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 from validated records (BIOGRID-3.4.160)
GenePPI interactors


check button Protein-protein interactors based on sequence similarity (STRING)
GeneSTRING network
MAST2all structure
CARD16


check button - Retained interactions in fusion protein (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenStill interaction with


check button - Lost interactions due to fusion (protein functional feature from UniProt).
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenInteraction lost with


Top

Related Drugs to MAST2-CARD16


check button Drugs used for this fusion-positive patient.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDrugSourcePMID

Top

Related Diseases to MAST2-CARD16


check button Diseases that have this fusion gene.
(Manual curation of PubMed, 04-30-2022 + MyCancerGenome)
HgeneTgeneDiseaseSourcePMID

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