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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: 21161

FusionGeneSummary for MATR3_PCDHAC2

check button Fusion gene summary
Fusion gene informationFusion gene name: MATR3_PCDHAC2
Fusion gene ID: 21161
HgeneTgene
Gene symbol

MATR3

PCDHAC2

Gene ID

9782

56134

Gene namematrin 3protocadherin alpha subfamily C, 2
SynonymsALS21|MPD2|VCPDMPCDH-ALPHA-C2
Cytomap

5q31.2

5q31.3

Type of geneprotein-codingprotein-coding
Descriptionmatrin-3vocal cord and pharyngeal weakness with distal myopathyprotocadherin alpha-C2
Modification date2018051920180523
UniProtAcc

P43243

Q9Y5I4

Ensembl transtripts involved in fusion geneENST00000509990, ENST00000361059, 
ENST00000504203, ENST00000502929, 
ENST00000394800, ENST00000507197, 
ENST00000394805, ENST00000502499, 
ENST00000510056, ENST00000503811, 
ENST00000289269, 
Fusion gene scores* DoF score10 X 6 X 4=2403 X 1 X 2=6
# samples 93
** MAII scorelog2(9/240*10)=-1.41503749927884
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/6*10)=2.32192809488736
Context

PubMed: MATR3 [Title/Abstract] AND PCDHAC2 [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
HgeneMATR3

GO:0002218

activation of innate immune response

28712728

HgeneMATR3

GO:0010608

posttranscriptional regulation of gene expression

21771347


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
TCGALDBRCATCGA-D8-A27W-01AMATR3chr5

138629494

+PCDHAC2chr5

140358534

+
* 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-3CDSENST00000509990ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
intron-3CDSENST00000361059ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
intron-3CDSENST00000504203ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
intron-3CDSENST00000502929ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
intron-3CDSENST00000394800ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
intron-3CDSENST00000507197ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
5UTR-3CDSENST00000394805ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
5UTR-3CDSENST00000502499ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
5UTR-3CDSENST00000510056ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+
5UTR-3CDSENST00000503811ENST00000289269MATR3chr5

138629494

+PCDHAC2chr5

140358534

+

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FusionProtFeatures for MATR3_PCDHAC2


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MATR3

P43243

PCDHAC2

Q9Y5I4

May play a role in transcription or may interact withother nuclear matrix proteins to form the internal fibrogranularnetwork. In association with the SFPQ-NONO heteromer may play arole in nuclear retention of defective RNAs. Plays a role in theregulation of DNA virus-mediated innate immune response byassembling into the HDP-RNP complex, a complex that serves as aplatform for IRF3 phosphorylation and subsequent innate immuneresponse activation through the cGAS-STING pathway(PubMed:28712728). May bind to specific miRNA hairpins(PubMed:28431233). {ECO:0000269|PubMed:11525732,ECO:0000269|PubMed:28431233, ECO:0000269|PubMed:28712728}. Potential calcium-dependent cell-adhesion protein. Maybe involved in the establishment and maintenance of specificneuronal connections in the brain.

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 MATR3_PCDHAC2


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 MATR3_PCDHAC2


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
MATR3HNRNPK, GSTK1, RUVBL2, CDK9, MEPCE, EGFR, H2AFX, UBC, CALM1, DISC1, TNFRSF21, AIMP2, SNAP23, SMARCAD1, NFX1, CUL3, CDK2, CUL1, COPS5, CAND1, NEDD8, GFI1B, PCBP1, SMU1, SAP18, STOML2, RANBP2, UTP14A, IARS2, RRP7A, PPT2, S100A9, SARS2, RRS1, NAA15, PRKCDBP, MYOF, MRPL19, MAGOH, EIF4A3, FN1, PTBP2, IFIT2, MAP1LC3A, ITGA4, PAN2, TARDBP, PARK2, RPA3, RPA2, RPA1, WWOX, ERG, LGR4, STAU1, AURKA, CEP250, MATR3, RASD1, CUL7, OBSL1, CCDC8, UBE2I, EED, SIRT6, HNRNPA1, FBXW11, UNK, NTRK1, BTF3, CALR, EEF1D, HNRNPU, ATP5A1, PUF60, RPL7, RUVBL1, SF3A3, SNRNP70, SNRPC, SRSF3, SUB1, YBX1, SRPK2, B9D2, ADAR, COPA, DDX3X, DDX5, DHX9, EWSR1, FUS, HNRNPA2B1, HNRNPC, HNRNPF, HNRNPH1, HNRNPH2, HNRNPH3, HNRNPL, ILF2, ILF3, HNRNPM, NAP1L4, NUMA1, PKP2, PPP1CA, PPP1CB, PTBP1, RBM3, RCN1, SAFB, SET, SNRPA, TAF15, PKP4, EIF3D, SRSF9, TNK1, FUBP3, APOBEC3B, SAFB2, PUM1, MPHOSPH8, HNRNPDL, PTBP3, DNAJB6, SUGP2, RBM6, ALYREF, HNRNPR, AKAP8, RBM14, DDX17, KHDRBS1, HNRNPA0, HNRNPUL1, PKP3, RALY, FAM120A, FAM208A, RBFOX2, TIMM13, AKAP8L, STAU2, RBMX, ZNF638, RBM15B, RTCB, PPHLN1, C14orf166, POLR3B, DDX28, YLPM1, NCOA5, SQRDL, ZNF106, ZNF668, SLTM, PRR3, RBM4B, GSG2, DPY30, NLRP5, ESCO2, HNRNPA3, HNRNPUL2, CXorf23, ZNF326, RBM12B, EIF2AK4, RBMXL1, CRY1, CRY2, ALKBH3, MCM5, SENP3, U2AF2, RC3H1, CRBN, ELAVL2, CDK5RAP1, CYLD, TRIM25, BRCA1, LMNA, YAP1, MTF1PCDHAC2MPP5, FRMD5, RAB23, TMEM258, EDA, SMPD2, PIGQ, KCNJ11, CGRRF1, ZDHHC18, BTN2A2, DAGLB, RPL23, DAG1, C2CD2L, SYNGR2, ST7, LSR, ABCC10, PDE3B, INADL, TMEM57, DHRS7, RAB6B, EPHB4, PCNXL3, CDC20, HMOX1, LMBR1, NUS1, PDZD8, TMEM223, GHDC, LAPTM4B, RAD54L2


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 MATR3_PCDHAC2


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 MATR3_PCDHAC2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneMATR3C3807521AMYOTROPHIC LATERAL SCLEROSIS 212ORPHANET;UNIPROT