FusionGDB Logo

Home

Download

Statistics

Examples

Help

Contact

Center for Computational Systems Medicine
leaf

Fusion Gene Summary

leaf

Fusion Gene ORF analysis

leaf

Fusion Genomic Features

leaf

Fusion Protein Features

leaf

Fusion Gene Sequence

leaf

Fusion Gene PPI analysis

leaf

Related Drugs

leaf

Related Diseases

Fusion gene:ARHGEF18-HSCB (FusionGDB2 ID:6237)

Fusion Gene Summary for ARHGEF18-HSCB

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF18-HSCB
Fusion gene ID: 6237
HgeneTgene
Gene symbol

ARHGEF18

HSCB

Gene ID

23370

150274

Gene nameRho/Rac guanine nucleotide exchange factor 18HscB mitochondrial iron-sulfur cluster cochaperone
SynonymsP114-RhoGEF|RP78|SA-RhoGEF|p114RhoGEFDNAJC20|HSC20|JAC1
Cytomap

19p13.2

22q12.1

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 18114 kDa Rho-specific guanine nucleotide exchange factorRho-specific guanine nucleotide exchange factor p114Rho/Rac guanine nucleotide exchange factor (GEF) 18septin-associated RhoGEFiron-sulfur cluster co-chaperone protein HscBDnaJ (Hsp40) homolog, subfamily C, member 20HscB iron-sulfur cluster co-chaperone homologHscB mitochondrial iron-sulfur cluster co-chaperoneJ-type co-chaperone HSC20epididymis secretory sperm binding prote
Modification date2020032020200320
UniProtAcc

Q6ZSZ5

Q8IWL3

Ensembl transtripts involved in fusion geneENST00000319670, ENST00000359920, 
ENST00000398941, ENST00000495977, 
ENST00000216027, 
Fusion gene scores* DoF score14 X 8 X 12=134412 X 9 X 8=864
# samples 1618
** MAII scorelog2(16/1344*10)=-3.0703893278914
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(18/864*10)=-2.26303440583379
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGEF18 [Title/Abstract] AND HSCB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF18(7516152)-HSCB(29153064), # samples:1
Anticipated loss of major functional domain due to fusion event.
* 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
HgeneARHGEF18

GO:0007264

small GTPase mediated signal transduction

14512443

HgeneARHGEF18

GO:0008360

regulation of cell shape

14512443

HgeneARHGEF18

GO:0030036

actin cytoskeleton organization

14512443


check buttonFusion gene breakpoints across ARHGEF18 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check buttonFusion gene breakpoints across HSCB (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
all structure

check button Fusion gene information from two resources (ChiTars 5.0 and ChimerDB 4.0)
* 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.
SourceDiseaseSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
ChiTaRS5.0N/ACR993366ARHGEF18chr19

7516152

+HSCBchr22

29153064

+


Top

Fusion Gene ORF analysis for ARHGEF18-HSCB

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-3UTRENST00000319670ENST00000398941ARHGEF18chr19

7516152

+HSCBchr22

29153064

+
5CDS-3UTRENST00000319670ENST00000495977ARHGEF18chr19

7516152

+HSCBchr22

29153064

+
5CDS-3UTRENST00000359920ENST00000398941ARHGEF18chr19

7516152

+HSCBchr22

29153064

+
5CDS-3UTRENST00000359920ENST00000495977ARHGEF18chr19

7516152

+HSCBchr22

29153064

+
In-frameENST00000319670ENST00000216027ARHGEF18chr19

7516152

+HSCBchr22

29153064

+
In-frameENST00000359920ENST00000216027ARHGEF18chr19

7516152

+HSCBchr22

29153064

+

check buttonORFfinder result based on the fusion transcript sequence of in-frame fusion genes.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandSeq length
(transcript)
BP loci
(transcript)
Predicted start
(transcript)
Predicted stop
(transcript)
Seq length
(amino acids)
ENST00000319670ARHGEF18chr197516152+ENST00000216027HSCBchr2229153064+14561023801114344
ENST00000359920ARHGEF18chr197516152+ENST00000216027HSCBchr2229153064+197715442531635460

check buttonDeepORF prediction of the coding potential based on the fusion transcript sequence of in-frame fusion genes. DeepORF is a coding potential classifier based on convolutional neural network by comparing the real Ribo-seq data. If the no-coding score < 0.5 and coding score > 0.5, then the in-frame fusion transcript is predicted as being likely translated.
HenstTenstHgeneHchrHbpHstrandTgeneTchrTbpTstrandNo-coding scoreCoding score
ENST00000319670ENST00000216027ARHGEF18chr197516152+HSCBchr2229153064+0.0030840540.99691594
ENST00000359920ENST00000216027ARHGEF18chr197516152+HSCBchr2229153064+0.0040126180.99598736

Top

Fusion Genomic Features for ARHGEF18-HSCB


check buttonFusionAI prediction of the potential fusion gene breakpoint based on the pre-mature RNA sequence context (+/- 5kb of individual partner genes, total 20kb length sequence). FusionAI is a fusion gene breakpoint classifier based on convolutional neural network by comparing the fusion positive and negative sequence context of ~ 20K fusion gene data. From here, we can have the relative potentency of the 20K genomic sequence how individual sequnce will be likely used as the gene fusion breakpoints.
HgeneHchrHbpHstrandTgeneTchrTbpTstrand1-pp (fusion gene breakpoint)
ARHGEF18chr197516152+HSCBchr2229153065+5.31E-070.9999995
ARHGEF18chr197516152+HSCBchr2229153065+5.31E-070.9999995

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions. We integrated a total of 44 different types of human genomic feature loci information across five big categories including virus integration sites, repeats, structural variants, chromatin states, and gene expression regulation. More details are in help page.
genomic feature

check buttonDistribution of 44 human genomic features loci across 20kb length fusion breakpoint regions that are ovelapped with the top 1% feature importance score regions. More details are in help page.
genomic feature of top 1%

Top

Fusion Protein Features for ARHGEF18-HSCB


check button Four levels of functional features of fusion genes
Go to FGviewer search page for the most frequent breakpoint (https://ccsmweb.uth.edu/FGviewer/chr19:7516152/chr22:29153064)
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
- How to search
1. Put your fusion gene symbol.
2. Press the tab key until there will be shown the breakpoint information filled.
4. Go down and press 'Search' tab twice.
4. Go down to have the hyperlink of the search result.
5. Click the hyperlink.
6. See the FGviewer result for your fusion gene.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
ARHGEF18

Q6ZSZ5

HSCB

Q8IWL3

FUNCTION: Acts as guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen species (ROS). Does not act as a GEF for CDC42. The G protein beta-gamma (Gbetagamma) subunits of heterotrimeric G proteins act as activators, explaining the integrated effects of LPA and other G-protein coupled receptor agonists on actin stress fiber formation, cell shape change and ROS production. Required for EPB41L4B-mediated regulation of the circumferential actomyosin belt in epithelial cells (PubMed:22006950). {ECO:0000269|PubMed:11085924, ECO:0000269|PubMed:14512443, ECO:0000269|PubMed:15558029, ECO:0000269|PubMed:22006950, ECO:0000269|PubMed:28132693}.FUNCTION: Acts as a co-chaperone in iron-sulfur cluster assembly in both mitochondria and the cytoplasm (PubMed:20668094, PubMed:29309586). Required for incorporation of iron-sulfur clusters into SDHB, the iron-sulfur protein subunit of succinate dehydrogenase that is involved in complex II of the mitochondrial electron transport chain (PubMed:26749241). Recruited to SDHB by interaction with SDHAF1 which first binds SDHB and then recruits the iron-sulfur transfer complex formed by HSC20, HSPA9 and ISCU through direct binding to HSC20 (PubMed:26749241). Also mediates complex formation between components of the cytosolic iron-sulfur biogenesis pathway and the CIA targeting complex composed of CIAO1, DIPK1B/FAM69B and MMS19 by binding directly to the scaffold protein ISCU and to CIAO1 (PubMed:29309586). This facilitates iron-sulfur cluster insertion into a number of cytoplasmic and nuclear proteins including POLD1, ELP3, DPYD and PPAT (PubMed:29309586). {ECO:0000269|PubMed:20668094, ECO:0000269|PubMed:26749241, ECO:0000269|PubMed:29309586}.

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
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+620310_3344301556.0Zinc fingerC2H2-type%3B degenerate

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+7211038_11482721618.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+6201038_11484301556.0Coiled coilOntology_term=ECO:0000255
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+7211042_11422721618.0Compositional biasArg-rich
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+7211292_13462721618.0Compositional biasPro-rich
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+6201042_11424301556.0Compositional biasArg-rich
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+6201292_13464301556.0Compositional biasPro-rich
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+721447_6442721618.0DomainDH
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+721684_7862721618.0DomainPH
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+620447_6444301556.0DomainDH
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000359920+620684_7864301556.0DomainPH
HgeneARHGEF18chr19:7516152chr22:29153064ENST00000319670+721310_3342721618.0Zinc fingerC2H2-type%3B degenerate
TgeneHSCBchr19:7516152chr22:29153064ENST000002160274672_144205236.0DomainNote=J


Top

Fusion Gene Sequence for ARHGEF18-HSCB


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences. To have fusion amino acid sequence, we ran ORFfinder and chose the longest ORF among the all predicted ones.
>6237_6237_1_ARHGEF18-HSCB_ARHGEF18_chr19_7516152_ENST00000319670_HSCB_chr22_29153064_ENST00000216027_length(transcript)=1456nt_BP=1023nt
CTCGCGCGGCTTCCCGCTTCCGGCTCCCAGCTGCTAGCTACTGTGGATCTGGGGGGGCCGGACGGAGGCATCGGAGGCGGCTGCGAGAGT
GGCAGAGGAGCTGGCGGAGAGCGGCCTGCGGGCGATCGGGCCGAGCCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCA
GCCCGGCCCTGTCCAGGAATGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAAC
TCGGACCAATCACAGGAGAGATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTC
CAAACACCGAGTCCATTTTTGTAGAAGATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGT
CCTGGAGCCTCGCCGTGGATGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATGAGCTGATGCAGA
CAGAGGTGCACCACGTGCGGACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCA
TTGGCCGCCTCTTCCCATGCGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGG
AGGAGGGCAGTGACCGGAATTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAGTTTTCAGGTGAAAATGGGGAGAGAATGAAAG
AAAAGTACGGTGTGTTTTGTAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGA
TCAAGAAAATTGGCAACTTCTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAG
TGCTGGTGGAGCGCATCATCCAGAACACGGAAGATGACTTTGAAGAAGCCAAGGAAATTTTGACAAAGATGAGATACTTTTCAAATATAG
AAGAAAAGATCAAGTTAAAGAAGATTCCCCTTTAATTGTGGATAGTTTAAAGTTTAAAAAATAAAGTTCTTGCTGGGCACAGTGGCTCAC
ACCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGTGGATGACAAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATAGTGAAACCCCG
TCTCTGCTGAAAATACAAAAATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGTAGGCCGAGGCAGGAGAATCGCTTA
AACCCGTGAGGTGGAGGTTGCAGTGAGCAGAGATCACGCAACTGCACTCCAGCTTGGGCAACAGAGTGAGACTTAATCTTGAAAAATAAA

>6237_6237_1_ARHGEF18-HSCB_ARHGEF18_chr19_7516152_ENST00000319670_HSCB_chr22_29153064_ENST00000216027_length(amino acids)=344AA_BP=314
MREWQRSWRRAACGRSGRASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPSPAGPGTQLGPITGEMDEADSAFLKFKQTADDSLS
LTSPNTESIFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQTEVHHVRTLKIMLKVYSRALQEELQFS
SKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKEKYGVFCSGHNEAVSHYKLLLQQNKKF

--------------------------------------------------------------
>6237_6237_2_ARHGEF18-HSCB_ARHGEF18_chr19_7516152_ENST00000359920_HSCB_chr22_29153064_ENST00000216027_length(transcript)=1977nt_BP=1544nt
AAACACCATGCCCTGCCATCTCTGGGTCTTAGAGTCACCCTAACATCTGATCTAGATTAATTATCATCATGTGCGAGGTTTTGGCATGAA
GCACGCCAGGCTCACCGTTTCATGATCTTAGACTATTTACAGCAAACTCAAACAGCTCACTTGCTTTTTACACCCTGCAAAGACCAAGGG
AGAGCCTGGAGGGGTTGTTTTTTTTTTCTGTTTTATTCTATCAAAGCAGCAAATACTGCAATTTCCACAGTAAATGGTCACAGTGGGGAC
CAATATCCTGCCCTCCAGACCCGCTGCTTCAGCCAATACAGCAAGGGAAGACGCAGCTCTGTTTTCTAGAAGGATCCCACCGAGGCATAA
AAACGGCGCAGCCCAGCCTGGCGCCGCGCCGGGTCCCGGAGCCCCGGGCGCGAACATGGGGAATGCGCACTCCAAAAGCGGGGACAGGCA
CAGCGCGCTCCCCGGCCGCCCCGAGCTGTCTTTTTACGGCTCTTTCCCCAGGAAATGGAGCGAGAACGTCTTCTTGGATAACGAGCTGCT
GACCTCCAAGATCCTGTCTGTGCTGCGGCCGCAGTCGGAGCGGGGCTTCCGCGCCGGGGACCTCCGCTACCCGACCCACTTTCTCAGCAC
CAACTCTGTCCTTGCCTCTGTCACAGCCTCGCTCAAGGAGCACCCCCGGGGCACCCTCCTGTCCGATGGCAGCCCGGCCCTGTCCAGGAA
TGTCGGTATGACGGTCTCTCAGAAAGGGGGTCCCCAGCCAACACCGAGCCCGGCTGGCCCTGGGACGCAACTCGGACCAATCACAGGAGA
GATGGATGAAGCCGATTCTGCGTTTTTAAAATTTAAGCAGACAGCTGATGACTCTCTGTCCCTTACATCTCCAAACACCGAGTCCATTTT
TGTAGAAGATCCCTACACCGCCTCGCTGAGGAGTGAGATTGAGTCAGACGGCCACGAGTTTGAAGCTGAGTCCTGGAGCCTCGCCGTGGA
TGCAGCCTACGCCAAGAAGCAAAAGAGGGAGGTGGTGAAAAGACAAGATGTCCTTTATGAGCTGATGCAGACAGAGGTGCACCACGTGCG
GACGCTCAAGATCATGCTGAAGGTGTACTCCAGGGCCCTGCAGGAGGAGCTGCAGTTCAGCAGCAAGGCCATTGGCCGCCTCTTCCCATG
CGCTGACGACCTGCTGGAGACGCACAGCCACTTCCTCGCTCGGCTCAAGGAGCGCCGCCAGGAGTCCCTGGAGGAGGGCAGTGACCGGAA
TTATGTCATCCAGAAAATCGGCGACCTCCTGGTTCAGCAGTTTTCAGGTGAAAATGGGGAGAGAATGAAAGAAAAGTACGGTGTGTTTTG
TAGTGGCCACAATGAAGCTGTTAGTCATTACAAGTTGCTGCTTCAGCAAAACAAGAAATTTCAAAACTTGATCAAGAAAATTGGCAACTT
CTCCATCGTGCGGCGGCTTGGCGTGCAGGAGTGCATTCTCCTGGTTACACAACGCATAACCAAATACCCAGTGCTGGTGGAGCGCATCAT
CCAGAACACGGAAGATGACTTTGAAGAAGCCAAGGAAATTTTGACAAAGATGAGATACTTTTCAAATATAGAAGAAAAGATCAAGTTAAA
GAAGATTCCCCTTTAATTGTGGATAGTTTAAAGTTTAAAAAATAAAGTTCTTGCTGGGCACAGTGGCTCACACCTGTAATCCCAGCACTT
TGGGAGGCTGAGGTGGGTGGATGACAAGGTCAGGAGTTCAAGACCAGCTTGGCCAACATAGTGAAACCCCGTCTCTGCTGAAAATACAAA
AATTAGCCGGGCATGGTGGCGCGTGCCTGTAATCCCAGCTACTTGGTAGGCCGAGGCAGGAGAATCGCTTAAACCCGTGAGGTGGAGGTT

>6237_6237_2_ARHGEF18-HSCB_ARHGEF18_chr19_7516152_ENST00000359920_HSCB_chr22_29153064_ENST00000216027_length(amino acids)=460AA_BP=430
MVTVGTNILPSRPAASANTAREDAALFSRRIPPRHKNGAAQPGAAPGPGAPGANMGNAHSKSGDRHSALPGRPELSFYGSFPRKWSENVF
LDNELLTSKILSVLRPQSERGFRAGDLRYPTHFLSTNSVLASVTASLKEHPRGTLLSDGSPALSRNVGMTVSQKGGPQPTPSPAGPGTQL
GPITGEMDEADSAFLKFKQTADDSLSLTSPNTESIFVEDPYTASLRSEIESDGHEFEAESWSLAVDAAYAKKQKREVVKRQDVLYELMQT
EVHHVRTLKIMLKVYSRALQEELQFSSKAIGRLFPCADDLLETHSHFLARLKERRQESLEEGSDRNYVIQKIGDLLVQQFSGENGERMKE
KYGVFCSGHNEAVSHYKLLLQQNKKFQNLIKKIGNFSIVRRLGVQECILLVTQRITKYPVLVERIIQNTEDDFEEAKEILTKMRYFSNIE

--------------------------------------------------------------

Top

Fusion Gene PPI Analysis for ARHGEF18-HSCB


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


Top

Related Drugs for ARHGEF18-HSCB


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.8 2021-05-08)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

Top

Related Diseases for ARHGEF18-HSCB


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