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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: 2544

FusionGeneSummary for ARHGEF1_ITIH4

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF1_ITIH4
Fusion gene ID: 2544
HgeneTgene
Gene symbol

ARHGEF1

ITIH4

Gene ID

9138

3700

Gene nameRho guanine nucleotide exchange factor 1inter-alpha-trypsin inhibitor heavy chain family member 4
SynonymsGEF1|LBCL2|LSC|P115-RHOGEF|SUB1.5GP120|H4P|IHRP|ITI-HC4|ITIHL1|PK-120|PK120
Cytomap

19q13.2

3p21.1

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 1115 kDa guanine nucleotide exchange factor115-kD proteinLsc homologRho guanine nucleotide exchange factor (GEF) 1p115RhoGEFinter-alpha-trypsin inhibitor heavy chain H4ITI heavy chain H4inter-alpha (globulin) inhibitor H4 (plasma Kallikrein-sensitive glycoprotein)inter-alpha-inhibitor heavy chain 4inter-alpha-trypsin inhibitor family heavy chain-related proteininter-alpha
Modification date2018051920180519
UniProtAcc

Q92888

Q14624

Ensembl transtripts involved in fusion geneENST00000354532, ENST00000599846, 
ENST00000596957, ENST00000347545, 
ENST00000378152, ENST00000337665, 
ENST00000266041, ENST00000346281, 
ENST00000485816, ENST00000406595, 
ENST00000434759, ENST00000467462, 
Fusion gene scores* DoF score10 X 9 X 5=4505 X 5 X 2=50
# samples 125
** MAII scorelog2(12/450*10)=-1.90689059560852
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/50*10)=0
Context

PubMed: ARHGEF1 [Title/Abstract] AND ITIH4 [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

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
ChiTaRS3.1DA281687ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
* 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-intronENST00000354532ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000354532ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000354532ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000354532ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000354532ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000354532ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000599846ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000596957ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000347545ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000378152ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000266041ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000346281ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000485816ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000406595ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000434759ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-
intron-intronENST00000337665ENST00000467462ARHGEF1chr19

42392102

+ITIH4chr3

52854022

-

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FusionProtFeatures for ARHGEF1_ITIH4


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

Q92888

ITIH4

Q14624

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}. Type II acute-phase protein (APP) involved ininflammatory responses to trauma. May also play a role in liverdevelopment or regeneration. {ECO:0000269|PubMed:19263524}.

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 ARHGEF1_ITIH4


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 ARHGEF1_ITIH4


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


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 ARHGEF1_ITIH4


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
TgeneITIH4Q14624DB01593ZincInter-alpha-trypsin inhibitor heavy chain H4small moleculeapproved|investigational

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RelatedDiseases for ARHGEF1_ITIH4


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneITIH4C0005586Bipolar Disorder3PSYGENET
TgeneITIH4C0009375Colonic Neoplasms1CTD_human
TgeneITIH4C0032580Adenomatous Polyposis Coli1CTD_human