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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: 3658

FusionGeneSummary for AXIN1_SYVN1

check button Fusion gene summary
Fusion gene informationFusion gene name: AXIN1_SYVN1
Fusion gene ID: 3658
HgeneTgene
Gene symbol

AXIN1

SYVN1

Gene ID

8312

84447

Gene nameaxin 1synoviolin 1
SynonymsAXIN|PPP1R49DER3|HRD1
Cytomap

16p13.3

11q13.1

Type of geneprotein-codingprotein-coding
Descriptionaxin-1axis inhibition protein 1axis inhibitor 1fused, mouse, homolog ofprotein phosphatase 1, regulatory subunit 49E3 ubiquitin-protein ligase synoviolinHMG-coA reductase degradation 1 homologRING-type E3 ubiquitin transferase synoviolinsynovial apoptosis inhibitor 1, synoviolin
Modification date2018052220180527
UniProtAcc

O15169

Q86TM6

Ensembl transtripts involved in fusion geneENST00000262320, ENST00000354866, 
ENST00000481769, 
ENST00000294256, 
ENST00000377190, ENST00000307289, 
ENST00000526060, ENST00000526121, 
Fusion gene scores* DoF score11 X 4 X 8=3522 X 2 X 2=8
# samples 122
** MAII scorelog2(12/352*10)=-1.55254102302878
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(2/8*10)=1.32192809488736
Context

PubMed: AXIN1 [Title/Abstract] AND SYVN1 [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
HgeneAXIN1

GO:0001934

positive regulation of protein phosphorylation

9601641

HgeneAXIN1

GO:0030178

negative regulation of Wnt signaling pathway

10644691

HgeneAXIN1

GO:0032147

activation of protein kinase activity

9601641

HgeneAXIN1

GO:0034622

cellular protein-containing complex assembly

16601693

HgeneAXIN1

GO:0045732

positive regulation of protein catabolic process

9601641

TgeneSYVN1

GO:0006511

ubiquitin-dependent protein catabolic process

14593114|17059562

TgeneSYVN1

GO:0016567

protein ubiquitination

12459480|22590560

TgeneSYVN1

GO:0030433

ubiquitin-dependent ERAD pathway

12459480|14593114|17059562

TgeneSYVN1

GO:0036503

ERAD pathway

22590560

TgeneSYVN1

GO:0070936

protein K48-linked ubiquitination

14593114

TgeneSYVN1

GO:1902236

negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway

12459480|17059562


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
TCGALDSARCTCGA-DX-AB2Q-01AAXIN1chr16

396148

-SYVN1chr11

64901089

-
* 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
5CDS-5UTRENST00000262320ENST00000294256AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000262320ENST00000377190AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000262320ENST00000307289AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000262320ENST00000526060AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-intronENST00000262320ENST00000526121AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000354866ENST00000294256AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000354866ENST00000377190AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000354866ENST00000307289AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-5UTRENST00000354866ENST00000526060AXIN1chr16

396148

-SYVN1chr11

64901089

-
5CDS-intronENST00000354866ENST00000526121AXIN1chr16

396148

-SYVN1chr11

64901089

-
intron-5UTRENST00000481769ENST00000294256AXIN1chr16

396148

-SYVN1chr11

64901089

-
intron-5UTRENST00000481769ENST00000377190AXIN1chr16

396148

-SYVN1chr11

64901089

-
intron-5UTRENST00000481769ENST00000307289AXIN1chr16

396148

-SYVN1chr11

64901089

-
intron-5UTRENST00000481769ENST00000526060AXIN1chr16

396148

-SYVN1chr11

64901089

-
intron-intronENST00000481769ENST00000526121AXIN1chr16

396148

-SYVN1chr11

64901089

-

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FusionProtFeatures for AXIN1_SYVN1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
AXIN1

O15169

SYVN1

Q86TM6

Component of the beta-catenin destruction complexrequired for regulating CTNNB1 levels through phosphorylation andubiquitination, and modulating Wnt-signaling (PubMed:12192039,PubMed:27098453). Controls dorsoventral patterning via twoopposing effects; down-regulates CTNNB1 to inhibit the Wntsignaling pathway and ventralize embryos, but also dorsalizesembryos by activating a Wnt-independent JNK signaling pathway(PubMed:12192039). In Wnt signaling, probably facilitates thephosphorylation of CTNNB1 and APC by GSK3B (PubMed:12192039).Likely to function as a tumor suppressor. Enhances TGF-betasignaling by recruiting the RNF111 E3 ubiquitin ligase andpromoting the degradation of inhibitory SMAD7 (PubMed:16601693).Also component of the AXIN1-HIPK2-TP53 complex which controls cellgrowth, apoptosis and development (PubMed:17210684). Facilitatesthe phosphorylation of TP53 by HIPK2 upon ultraviolet irradiation(PubMed:17210684). {ECO:0000269|PubMed:12192039,ECO:0000269|PubMed:16601693, ECO:0000269|PubMed:17210684,ECO:0000269|PubMed:27098453}. Acts as an E3 ubiquitin-protein ligase which acceptsubiquitin specifically from endoplasmic reticulum-associated UBC7E2 ligase and transfers it to substrates, promoting theirdegradation (PubMed:12459480, PubMed:12646171, PubMed:12975321,PubMed:14593114, PubMed:16289116, PubMed:16847254,PubMed:17059562, PubMed:17141218, PubMed:17170702,PubMed:22607976, PubMed:26471130). Component of the endoplasmicreticulum quality control (ERQC) system also called ER-associateddegradation (ERAD) involved in ubiquitin-dependent degradation ofmisfolded endoplasmic reticulum proteins (PubMed:12459480,PubMed:12646171, PubMed:12975321, PubMed:14593114,PubMed:16289116, PubMed:16847254, PubMed:17059562,PubMed:17141218, PubMed:17170702, PubMed:22607976,PubMed:26471130). Also promotes the degradation of normal butnaturally short-lived proteins such as SGK. Protects cells from ERstress-induced apoptosis. Protects neurons from apoptosis inducedby polyglutamine-expanded huntingtin (HTT) or unfolded GPR37 bypromoting their degradation (PubMed:17141218). Sequesters p53/TP53in the cytoplasm and promotes its degradation, thereby negativelyregulating its biological function in transcription, cell cycleregulation and apoptosis (PubMed:17170702). Mediates theubiquitination and subsequent degradation of cytoplasmic NFE2L1(By similarity). {ECO:0000250|UniProtKB:Q9DBY1,ECO:0000269|PubMed:12459480, ECO:0000269|PubMed:12646171,ECO:0000269|PubMed:12975321, ECO:0000269|PubMed:14593114,ECO:0000269|PubMed:16289116, ECO:0000269|PubMed:16847254,ECO:0000269|PubMed:17059562, ECO:0000269|PubMed:17141218,ECO:0000269|PubMed:17170702, ECO:0000269|PubMed:22607976,ECO:0000269|PubMed:26471130}.

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 AXIN1_SYVN1


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 AXIN1_SYVN1


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
AXIN1SMYD2, GSK3B, CTNNB1, APC, DAB2, DVL3, AXIN1, GAK, UTP14A, ANP32A, CRMP1, EEF1A1, LRP5, CSNK1E, CSNK1A1, MAP3K1, TSC1, TSC2, DVL2, DVL1, PPP2R5A, AMER1, DAXX, BTRC, PRMT1, CARM1, MYC, GSK3A, PIN1, PPP2CA, STRAP, PML, TP53, HIPK2, SMURF2, HTT, AXIN2, LRP6, SKI, SKIL, SMAD7, NCK2, PPP1CA, UBC, ARRB1, CAV1, TNFAIP3, SMURF1, LMO2, MYOT, GNAS, MAP3K4, FBXW11, TNKS, XPO1, CSNK1D, CTNNA1, JUP, MAPRE1, PUF60, GAPVD1, ARHGAP21, MAP3K2, USP15, WDR26, FOXM1, WDYHV1, USP7, TRIM25SYVN1ERN1, TRA, IGHM, SVIP, VCP, VIMP, GPR37, UBE2J1, UBE2U, UBE2Z, HERPUD1, DERL1, SYVN1, DERL2, SEL1L, CLU, HTT, AMFR, WFS1, ATF6, ATP6AP1, APP, PDIA2, TP53, HSPA5, PSMD2, ERLIN2, ERLIN1, TMUB1, HLA-A, HFE, SGK1, FAM8A1, TYR, SARAF, AUP1, UBXN8, ERLEC1, OS9, ASGR2, SHH, APOB, ATN1, USP7, UBE2D2, UBE2D3, ASGR1, BSG, YOD1, ATXN3, USP19, HEY2, HEY1, STXBP5L, RER1, PMP22, PSMB4, HMGCR, HMOX1, PSMA7, PSMA1, PSMA2, PSMB1, PSMA3, PSMB2, PSMB7, PSMB6, PSMB3, PSMD7, POR, PSMA5, PSMA6, PSMD1, FDFT1, MYH9, TMEM129, MBTPS2, WBP1, NAAA, GLRA2, PPARGC1B, BAG6, UBAC2, FAF2, BAG1, IGF1R, GABRA1, SERPINA1, YIPF3, EGFL6, HTR3A, SLC24A5


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 AXIN1_SYVN1


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 AXIN1_SYVN1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneAXIN1C2239176Liver carcinoma2CTD_human;HPO;UNIPROT