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: 2550

FusionGeneSummary for ARHGEF1_TMEM120A

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF1_TMEM120A
Fusion gene ID: 2550
HgeneTgene
Gene symbol

ARHGEF1

TMEM120A

Gene ID

9138

83862

Gene nameRho guanine nucleotide exchange factor 1transmembrane protein 120A
SynonymsGEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5NET29|TMPIT
Cytomap

19q13.2

7q11.23

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEFtransmembrane protein 120Atransmembrane protein induced by tumor necrosis factor alpha
Modification date2018051920180523
UniProtAcc

Q92888

Ensembl transtripts involved in fusion geneENST00000354532, ENST00000599846, 
ENST00000596957, ENST00000347545, 
ENST00000378152, ENST00000337665, 
ENST00000338761, ENST00000493111, 
Fusion gene scores* DoF score10 X 9 X 5=4503 X 3 X 3=27
# samples 124
** MAII scorelog2(12/450*10)=-1.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(4/27*10)=0.567040592723894
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARHGEF1 [Title/Abstract] AND TMEM120A [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
TgeneTMEM120A

GO:0051260

protein homooligomerization

26024229

TgeneTMEM120A

GO:0051291

protein heterooligomerization

26024229


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
TCGALDCOADTCGA-D5-6529-01AARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
TCGALDCOADTCGA-D5-6541-01AARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
* 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-5UTRENST00000354532ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000354532ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000599846ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000599846ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
intron-5UTRENST00000596957ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
intron-5UTRENST00000596957ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000347545ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000347545ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000378152ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000378152ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000337665ENST00000338761ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-
5CDS-5UTRENST00000337665ENST00000493111ARHGEF1chr19

42400555

+TMEM120Achr7

75617834

-

Top

FusionProtFeatures for ARHGEF1_TMEM120A


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF1

Q92888

TMEM120A

Seems to play a role in the regulation of RhoA GTPase byguanine nucleotide-binding alpha-12 (GNA12) and alpha-13 (GNA13)subunits. Acts as GTPase-activating protein (GAP) for GNA12 andGNA13, and as guanine nucleotide exchange factor (GEF) for RhoAGTPase. Activated G alpha 13/GNA13 stimulates the RhoGEF activitythrough interaction with the RGS-like domain. This GEF activity isinhibited by binding to activated GNA12. Mediates angiotensin-2-induced RhoA activation. {ECO:0000269|PubMed:20098430,ECO:0000269|PubMed:8810315, ECO:0000269|PubMed:9641915,ECO:0000269|PubMed:9641916}. Lectin that binds to various sugars: galactose > mannose= fucose > N-acetylglucosamine > N-acetylgalactosamine(PubMed:10224141). Acts as a chemoattractant, probably involved inthe regulation of cell migration (PubMed:28301481).{ECO:0000269|PubMed:10224141, ECO:0000269|PubMed:28301481}.

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 ARHGEF1_TMEM120A


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 ARHGEF1_TMEM120A


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
ARHGEF1ATR, ARHGEF1, GNA13, GNA12, PIK3CA, CD44, RHOA, RAP1A, HRAS, TAF10, MEPCE, SREBF2, CSNK1E, SH3KBP1, DCUN1D1, FN1, CAP2, CYFIP1, TCF4, PSMC3, THBS3, CCNJL, SLK, NTRK1, XPO1, AHSA1, GAN, SNW1, CDC5L, RHOCTMEM120APAXIP1, VKORC1, PPP1CC, SNAP29, SLC39A4, POMK, B4GALT3, SYPL2, CLEC2D, YIPF3, UPK1A, ATP5B, UBC, NCLN, TMEM120B, SERINC1, METTL9, AGPAT3, ARL15, NOMO1


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 ARHGEF1_TMEM120A


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 ARHGEF1_TMEM120A


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