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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: 34992

FusionGeneSummary for SMURF1_COL26A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SMURF1_COL26A1
Fusion gene ID: 34992
HgeneTgene
Gene symbol

SMURF1

COL26A1

Gene ID

57154

136227

Gene nameSMAD specific E3 ubiquitin protein ligase 1collagen type XXVI alpha 1 chain
Synonyms-EMI6|EMID2|EMU2|SH2B
Cytomap

7q22.1

7q22.1

Type of geneprotein-codingprotein-coding
DescriptionE3 ubiquitin-protein ligase SMURF1E3 ubiquitin ligase SMURF1HECT-type E3 ubiquitin transferase SMURF1Smad ubiquitination regulatory factor 1Smad-specific E3 ubiquitin ligase 1hSMURF1collagen alpha-1(XXVI) chainEMI domain containing 2collagen, type XXVI, alpha 1emilin and multimerin domain-containing protein 2
Modification date2018052320180523
UniProtAcc

Q9HCE7

Q96A83

Ensembl transtripts involved in fusion geneENST00000361368, ENST00000361125, 
ENST00000480055, 
ENST00000397927, 
ENST00000313669, ENST00000528707, 
Fusion gene scores* DoF score16 X 5 X 12=9602 X 2 X 2=8
# samples 152
** MAII scorelog2(15/960*10)=-2.67807190511264
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: SMURF1 [Title/Abstract] AND COL26A1 [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
HgeneSMURF1

GO:0000209

protein polyubiquitination

19937093

HgeneSMURF1

GO:0006511

ubiquitin-dependent protein catabolic process

10458166|12151385|19937093

HgeneSMURF1

GO:0006611

protein export from nucleus

11278251

HgeneSMURF1

GO:0016567

protein ubiquitination

11278251

HgeneSMURF1

GO:0030154

cell differentiation

10458166

HgeneSMURF1

GO:0030509

BMP signaling pathway

21572392

HgeneSMURF1

GO:0030512

negative regulation of transforming growth factor beta receptor signaling pathway

11278251|12151385

HgeneSMURF1

GO:0030514

negative regulation of BMP signaling pathway

27214554

HgeneSMURF1

GO:0030579

ubiquitin-dependent SMAD protein catabolic process

11278251|12151385

HgeneSMURF1

GO:0032801

receptor catabolic process

12151385

HgeneSMURF1

GO:0034394

protein localization to cell surface

12151385

HgeneSMURF1

GO:0043161

proteasome-mediated ubiquitin-dependent protein catabolic process

11278251

HgeneSMURF1

GO:1903861

positive regulation of dendrite extension

23999003


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
TCGALDGBMTCGA-12-0616-01ASMURF1chr7

98741349

-COL26A1chr7

101176363

+
* 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
Frame-shiftENST00000361368ENST00000397927SMURF1chr7

98741349

-COL26A1chr7

101176363

+
Frame-shiftENST00000361368ENST00000313669SMURF1chr7

98741349

-COL26A1chr7

101176363

+
Frame-shiftENST00000361368ENST00000528707SMURF1chr7

98741349

-COL26A1chr7

101176363

+
Frame-shiftENST00000361125ENST00000397927SMURF1chr7

98741349

-COL26A1chr7

101176363

+
Frame-shiftENST00000361125ENST00000313669SMURF1chr7

98741349

-COL26A1chr7

101176363

+
Frame-shiftENST00000361125ENST00000528707SMURF1chr7

98741349

-COL26A1chr7

101176363

+
intron-3CDSENST00000480055ENST00000397927SMURF1chr7

98741349

-COL26A1chr7

101176363

+
intron-3CDSENST00000480055ENST00000313669SMURF1chr7

98741349

-COL26A1chr7

101176363

+
intron-3CDSENST00000480055ENST00000528707SMURF1chr7

98741349

-COL26A1chr7

101176363

+

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FusionProtFeatures for SMURF1_COL26A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SMURF1

Q9HCE7

COL26A1

Q96A83

E3 ubiquitin-protein ligase that acts as a negativeregulator of BMP signaling pathway. Mediates ubiquitination anddegradation of SMAD1 and SMAD5, 2 receptor-regulated SMADsspecific for the BMP pathway. Promotes ubiquitination andsubsequent proteasomal degradation of TRAF family members andRHOA. Promotes ubiquitination and subsequent proteasomaldegradation of MAVS (PubMed:23087404). Plays a role in dendriteformation by melanocytes (PubMed:23999003).{ECO:0000269|PubMed:10458166, ECO:0000269|PubMed:19937093,ECO:0000269|PubMed:21402695, ECO:0000269|PubMed:23087404,ECO:0000269|PubMed:23999003}.

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 SMURF1_COL26A1


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 SMURF1_COL26A1


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
SMURF1SMAD7, TGFBR1, SMURF2, PLEKHO1, SMAD5, ARHGEF9, RHOA, ACVR1B, PDLIM7, SMAD1, SMAD4, SMAD2, SMAD3, SMAD6, RUNX3, TRAF4, TRAF3, TRAF2, TRAF5, TRAF6, TGFBR2, KLF2, WFS1, JUNB, ESR1, TNK2, PSME3, TLN1, ING2, ING1, MDM2, TP53, NFIC, PARD6A, ACVR1, BMPR1A, BMPR1B, STAT1, SPG20, TRIB3, RUNX2, CCM2, SMURF1, MAP3K3, MAP3K2, XPO1, PSMC5, MYD88, UBE2D3, NDFIP1, MAVS, FZR1, APP, ARHGAP32, RPS15, NUDT5, PPAT, USP9X, RPS3A, RPS11, SRSF1, NUMA1, ARHGAP5, DDX21, RPS13, NUDT21, DDX5, RPS12, UBC, HNRNPU, HNRNPA1, RPS17, SSB, RPS19, XRCC5, MRPS22, SYNCRIP, PPP2R1A, PPP2CA, HNRNPA0, HNRNPAB, U2AF1, HIST2H2BE, RPS15A, XRCC6, HNRNPD, PPP2R2A, RPS10, CPSF6, HIST1H1C, RPS3, MRPS23, RPS8, RPL17, RPS14, RPL22, RPS6, RPS4X, RPS25, DHX9, RPS20, NCL, MRPS27, RPL23, FASN, RPS18, BYSL, RBM17, SLC25A3, OGT, SF3B2, EEF1D, FHL1, HNRNPA3, RPS9, RPS16, HSPA9, TUBB, TUBB4B, SNRPA, HNRNPF, SF3B1, PRPS1, GDI2, HNRNPA2B1, TIMM50, RPS5, LRPPRC, TCP1, TRIM28, LDHB, TUBA1A, CCT2, SLC25A5, RPL24, CCT4, GTF2B, PTS, MAP1B, ANXA2P2, CCAR1, SNRPA1, HSPA1B, HSPA1A, HSPA5, HSPA8, USP15, VIM, PSMC4, CCT8, EEF1A1, FLNA, CLTC, EEF1G, RBM10, SUB1, EIF3A, SPTAN1, PPM1A, SNRPD2, HNRNPK, CAPZA1, CCT7, HSPD1, YBX1, CIRBP, TUFM, EEF1B2, ACTB, SPTBN1, TMPO, PRKAR1A, STK38, IVNS1ABP, CLASP2, LTBP1, ANKFY1, SPIN1, EIF3H, PDIA6, KIF11, ZRANB2, STK38L, KPNB1, ACTR1A, CCT6A, PRPF31, WDR77, CLNS1A, RPL31, EIF4B, CMBL, KCTD5, SF3A1, E2F7, MAT2A, PSMD2, CFL1, SNRPB, EEF2, ROCK1, YY1AP1, HNRNPH2, COPRS, EIF3E, BCLAF1, PSMA4, SNRPD3, HNRNPH1, VCP, GOLGA3, PRMT5, RIOK1, CCDC88A, PRMT1, DCTN2, CCDC88C, JAK1, ACAP2, SNRPD1, THRAP3, DCTN1, RPS24, EPB41L3, EIF3B, YWHAQ, EFNB1, FBXL15, BTRC, FBXO42, FBXO21, FBXL5, RNF11, AXIN1, TRIB2, UBE2L3, UBE2M, SENP8, PTCH1, POLR2A, LATS1, CTNNB1, EPN3, LDLRAD4, FBXO3, ECSIT, GNG11, UBE2D1, UBE2D2, RASSF1, NR2E1, USP5, ANKRD13D, PSMD4, UBE2V1, TOM1, RBCK1, CUEDC1, UBAC1, FAM188A, UBE2G1, UBQLN2, TNIP2, TOM1L2, RABEP1, RAD23A, ATXN3, TAOK3, EPHA1, EPN1, C6orf106, PRKCA, ODF2, ANKS4B, UBXN6, NEK2, UBE2K, UBQLN1, HIP1, UBXN7, SDCCAG3, ANKRD50, HOMER2, PRKCI, ZFAND5, TPM4, KRT36, FKBP3, FAF2, FES, CTTN, MATK, ELOF1, RIOK3, TRIP10, CALCOCO1, SCYL1, ADRM1, RNF114, MAP3K9, IMPACT, PICALM, PDGFRA, ANXA6, LMNA, PADI4, TNIK, SLAIN2, OTUD6B, CSNK2A2, PRR16, CSNK1D, BTK, ASCC2, FGF12, MARK2, FGR, MAP3K10, PRKCG, C9orf78, CCDC69, MSN, TAB1, LCK, ADRBK2, MAP4K5, STK31, ANKRD13A, ITK, DDX54, TBK1, VHL, NEDD8, SETD7, FSCN1, ITGB1BP1, PCBP1COL26A1TBP, VWCE


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 SMURF1_COL26A1


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 SMURF1_COL26A1


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