FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

FusionGeneSummary

leaf

FusionProtFeature

leaf

FusionGeneSequence

leaf

FusionGenePPI

leaf

RelatedDrugs

leaf

RelatedDiseases

Fusion gene ID: 12063

FusionGeneSummary for ERRFI1_VAMP3

check button Fusion gene summary
Fusion gene informationFusion gene name: ERRFI1_VAMP3
Fusion gene ID: 12063
HgeneTgene
Gene symbol

ERRFI1

VAMP3

Gene ID

54206

9341

Gene nameERBB receptor feedback inhibitor 1vesicle associated membrane protein 3
SynonymsGENE-33|MIG-6|MIG6|RALTCEB
Cytomap

1p36.23

1p36.23

Type of geneprotein-codingprotein-coding
DescriptionERBB receptor feedback inhibitor 1mitogen-inducible gene 6 proteinreceptor-associated late transducervesicle-associated membrane protein 3VAMP-3cellubrevinsynaptobrevin-3
Modification date2018052320180527
UniProtAcc

Q9UJM3

Q15836

Ensembl transtripts involved in fusion geneENST00000474874, ENST00000377482, 
ENST00000467067, ENST00000469499, 
ENST00000054666, ENST00000470357, 
Fusion gene scores* DoF score5 X 2 X 5=504 X 4 X 3=48
# samples 54
** MAII scorelog2(5/50*10)=0log2(4/48*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ERRFI1 [Title/Abstract] AND VAMP3 [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
HgeneERRFI1

GO:0007175

negative regulation of epidermal growth factor-activated receptor activity

18046415

HgeneERRFI1

GO:0031953

negative regulation of protein autophosphorylation

18046415

TgeneVAMP3

GO:0042147

retrograde transport, endosome to Golgi

18195106

TgeneVAMP3

GO:1903531

negative regulation of secretion by cell

12130530


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-27-2528-01AERRFI1chr1

8086218

-VAMP3chr1

7837220

+
* 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
5UTR-3CDSENST00000474874ENST00000054666ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
5UTR-5UTRENST00000474874ENST00000470357ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
5UTR-3CDSENST00000377482ENST00000054666ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
5UTR-5UTRENST00000377482ENST00000470357ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
intron-3CDSENST00000467067ENST00000054666ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
intron-5UTRENST00000467067ENST00000470357ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
5UTR-3CDSENST00000469499ENST00000054666ERRFI1chr1

8086218

-VAMP3chr1

7837220

+
5UTR-5UTRENST00000469499ENST00000470357ERRFI1chr1

8086218

-VAMP3chr1

7837220

+

Top

FusionProtFeatures for ERRFI1_VAMP3


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ERRFI1

Q9UJM3

VAMP3

Q15836

Negative regulator of EGFR signaling in skinmorphogenesis. Acts as a negative regulator for several EGFRfamily members, including ERBB2, ERBB3 and ERBB4. Inhibits EGFRcatalytic activity by interfering with its dimerization. Inhibitsautophosphorylation of EGFR, ERBB2 and ERBB4. Important for normalkeratinocyte proliferation and differentiation. Plays a role inmodulating the response to steroid hormones in the uterus.Required for normal response to progesterone in the uterus and forfertility. Mediates epithelial estrogen responses in the uterus byregulating ESR1 levels and activation. Important for regulation ofendometrium cell proliferation. Important for normal prenatal andperinatal lung development (By similarity). {ECO:0000250}. SNARE involved in vesicular transport from the lateendosomes to the trans-Golgi network.{ECO:0000269|PubMed:18195106}.

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


Top

FusionGeneSequence for ERRFI1_VAMP3


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).

Top

FusionGenePPI for ERRFI1_VAMP3


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
ERRFI1SFN, CDC42, GRB2, EGFR, ELAVL1, PDGFRB, AXL, ALK, LTK, YWHAZ, UBASH3B, YWHAQ, ACTA2, ACTB, ACTBL2, POTEKP, ACTC1, ACTG1, ACTG2, ACTA1, ERBB2, ERRFI1, GFAP, HSPA1A, HSPA8, MASP1, POTEE, POTEF, RPS27A, SHC1, SHC2, TUBA1A, TUBA1B, TUBA1C, ATM, AURKA, BAG4, BCAR3, CASP8, FGFR2, FGFR4, PALB2, PPM1D, RB1CC1, XPO1, YWHAE, ANXA2, TUBB, CCT3, ESRRB, SRC, ACBD3, AOX1, ARRDC5, KIAA0226L, CRHBP, DCTN6, EFEMP1, FAM96B, GAS1, GNPDA2, GTF2H2, AGPAT4-IT1, HYDIN, IL2RG, COPS5, LINC00998, MFSD5, MMP26, NEU1, NPC2, OSTF1, PAPSS1, PCCA, PCNA, PDCD2, PHYHIPL, PLEKHA3, PPIA, PSMA7, PSMB6, RAB18, SH3YL1, SLC7A13, STX8, TC2N, TIMP4, TM2D3, ADAM5, TMEM165, TMEM59, WDR61, YWHAB, ZPBP, NEDD4VAMP3STX4, SNAP23, STX2, STX3, NELFE, STX6, VTI1A, STX16, BCAP31, VAMP2, VAMP8, IKBKG, APP, SLC3A2, ATP4A, BCL2L13, CCDC8, STX7, STX8, VTI1B, STX12, STX19, GPR183, MICA, ENPP6, WDFY2, TNFRSF10B, TCTN2, TMEM17, TMEM216, TINF2, RAB11A, RAB8A, PTAR1, CDH1, PPM1H, WDFY1, SYPL1, STX11, SCARB2, TPCN2, RNF11, MANSC1, RINT1, SLCO1B1, KIFAP3, MED21, SNRNP27, USP47, CPLX1, PMS1, TMEM206, CD4, IPPK, EIF2B2, JPH4, DUSP22, LRRIQ1, SYPL2, VAC14, TRIM25, LMNA


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


Top

RelatedDrugs for ERRFI1_VAMP3


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

RelatedDiseases for ERRFI1_VAMP3


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgeneERRFI1C0014175Endometriosis1CTD_human
HgeneERRFI1C0032460Polycystic Ovary Syndrome1CTD_human
TgeneVAMP3C0005586Bipolar Disorder1PSYGENET
TgeneVAMP3C1839839MAJOR AFFECTIVE DISORDER 21PSYGENET