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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: 2570

FusionGeneSummary for ARHGEF38_COL25A1

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF38_COL25A1
Fusion gene ID: 2570
HgeneTgene
Gene symbol

ARHGEF38

COL25A1

Gene ID

54848

84570

Gene nameRho guanine nucleotide exchange factor 38collagen type XXV alpha 1 chain
Synonyms-AMY|CFEOM5|CLAC|CLAC-P|CLACP
Cytomap

4q24

4q25

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 38Rho guanine nucleotide exchange factor (GEF) 38collagen alpha-1(XXV) chainalzheimer disease amyloid-associated proteincollagen-like Alzheimer amyloid plaque componentcollagenous Alzheimer amyloid plaque component
Modification date2018052320180523
UniProtAcc

Q9NXL2

Q9BXS0

Ensembl transtripts involved in fusion geneENST00000420470, ENST00000508036, 
ENST00000265154, 
ENST00000399132, 
ENST00000399127, ENST00000399126, 
Fusion gene scores* DoF score2 X 2 X 1=43 X 3 X 3=27
# samples 23
** MAII scorelog2(2/4*10)=2.32192809488736log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARHGEF38 [Title/Abstract] AND COL25A1 [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
TCGALDPRADTCGA-VP-A87K-01AARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
* 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-shiftENST00000420470ENST00000399132ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
Frame-shiftENST00000420470ENST00000399127ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
Frame-shiftENST00000420470ENST00000399126ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
intron-3CDSENST00000508036ENST00000399132ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
intron-3CDSENST00000508036ENST00000399127ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
intron-3CDSENST00000508036ENST00000399126ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
Frame-shiftENST00000265154ENST00000399132ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
Frame-shiftENST00000265154ENST00000399127ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-
Frame-shiftENST00000265154ENST00000399126ARHGEF38chr4

106534664

+COL25A1chr4

109767375

-

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FusionProtFeatures for ARHGEF38_COL25A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF38

Q9NXL2

COL25A1

Q9BXS0

May act as a guanine-nucleotide releasing factor.{ECO:0000250}. Inhibits fibrillization of amyloid-beta peptide duringthe elongation phase. Has also been shown to assemble amyloidfibrils into protease-resistant aggregates. Binds heparin.{ECO:0000269|PubMed:15522881, ECO:0000269|PubMed:15615705,ECO:0000269|PubMed:15853808, ECO:0000269|PubMed:16300410}.

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 ARHGEF38_COL25A1


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 ARHGEF38_COL25A1


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
ARHGEF38CLASP1, TMEM261COL25A1APP, COL25A1, PLOD1


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 ARHGEF38_COL25A1


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 ARHGEF38_COL25A1


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneCOL25A1C4015552FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 51UNIPROT