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Center for Computational Systems Medicine
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Fusion Gene Summary

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Fusion Gene ORF analysis

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Fusion Genomic Features

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Fusion Protein Features

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Fusion Gene Sequence

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Fusion Gene PPI analysis

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Related Drugs

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Related Diseases

Fusion gene:ARHGEF38-ZNF622 (FusionGDB2 ID:HG54848TG90441)

Fusion Gene Summary for ARHGEF38-ZNF622

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGEF38-ZNF622
Fusion gene ID: hg54848tg90441
HgeneTgene
Gene symbol

ARHGEF38

ZNF622

Gene ID

54848

90441

Gene nameRho guanine nucleotide exchange factor 38zinc finger protein 622
Synonyms-ZPR9
Cytomap('ARHGEF38')('ZNF622')

4q24

5p15.1

Type of geneprotein-codingprotein-coding
Descriptionrho guanine nucleotide exchange factor 38Rho guanine nucleotide exchange factor (GEF) 38zinc finger protein 622zinc finger-like protein 9
Modification date2020031320200313
UniProtAcc

Q9NXL2

.
Ensembl transtripts involved in fusion geneENST00000265154, ENST00000420470, 
ENST00000508036, 
Fusion gene scores* DoF score6 X 5 X 3=903 X 3 X 3=27
# samples 63
** MAII scorelog2(6/90*10)=-0.584962500721156
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: ARHGEF38 [Title/Abstract] AND ZNF622 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGEF38(106474118)-ZNF622(16463851), # samples:5
Anticipated loss of major functional domain due to fusion event.ARHGEF38-ZNF622 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ARHGEF38-ZNF622 seems lost the major protein functional domain in Hgene partner, which is a CGC by not retaining the major functional domain in the partially deleted in-frame ORF.
ARHGEF38-ZNF622 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
ARHGEF38-ZNF622 seems lost the major protein functional domain in Hgene partner, which is a essential gene by not retaining the major functional domain in the partially deleted in-frame ORF.
* 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
TgeneZNF622

GO:0008631

intrinsic apoptotic signaling pathway in response to oxidative stress

21771788

TgeneZNF622

GO:0033674

positive regulation of kinase activity

21771788

TgeneZNF622

GO:0043065

positive regulation of apoptotic process

21771788

TgeneZNF622

GO:0043410

positive regulation of MAPK cascade

21771788


check buttonFusion gene breakpoints across ARHGEF38 (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 ZNF622 (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
* 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
ChimerDB4PRADTCGA-YL-A9WL-01AARHGEF38chr4

106474118

-ZNF622chr5

16463851

-
ChimerDB4PRADTCGA-YL-A9WL-01AARHGEF38chr4

106474118

+ZNF622chr5

16463851

-
ChimerDB4PRADTCGA-YL-A9WLARHGEF38chr4

106474118

+ZNF622chr5

16463851

-


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Fusion Gene ORF analysis for ARHGEF38-ZNF622

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
In-frameENST00000265154ENST00000308683ARHGEF38chr4

106474118

+ZNF622chr5

16463851

-
In-frameENST00000420470ENST00000308683ARHGEF38chr4

106474118

+ZNF622chr5

16463851

-
intron-3CDSENST00000508036ENST00000308683ARHGEF38chr4

106474118

+ZNF622chr5

16463851

-

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)
ENST00000420470ARHGEF38chr4106474118+ENST00000308683ZNF622chr516463851-1287340841148354
ENST00000265154ARHGEF38chr4106474118+ENST00000308683ZNF622chr516463851-1289342861150354

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
ENST00000420470ENST00000308683ARHGEF38chr4106474118+ZNF622chr516463851-0.0032458450.9967541
ENST00000265154ENST00000308683ARHGEF38chr4106474118+ZNF622chr516463851-0.0031981970.99680185

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Fusion Genomic Features for ARHGEF38-ZNF622


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)

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

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Fusion Protein Features for ARHGEF38-ZNF622


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/chr4:106474118/chr5:16463851)
- 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
ARHGEF38

Q9NXL2

.
FUNCTION: May act as a guanine-nucleotide releasing factor. {ECO:0000250}.FUNCTION: Transcriptional activator which is required for calcium-dependent dendritic growth and branching in cortical neurons. Recruits CREB-binding protein (CREBBP) to nuclear bodies. Component of the CREST-BRG1 complex, a multiprotein complex that regulates promoter activation by orchestrating a calcium-dependent release of a repressor complex and a recruitment of an activator complex. In resting neurons, transcription of the c-FOS promoter is inhibited by BRG1-dependent recruitment of a phospho-RB1-HDAC1 repressor complex. Upon calcium influx, RB1 is dephosphorylated by calcineurin, which leads to release of the repressor complex. At the same time, there is increased recruitment of CREBBP to the promoter by a CREST-dependent mechanism, which leads to transcriptional activation. The CREST-BRG1 complex also binds to the NR2B promoter, and activity-dependent induction of NR2B expression involves a release of HDAC1 and recruitment of CREBBP (By similarity). {ECO:0000250}.

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
TgeneZNF622chr4:106474118chr5:16463851ENST0000030868306236_242208478.0Compositional biasNote=Poly-Glu

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000265154+14689_69465220.0Compositional biasNote=Poly-Ser
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000420470+114689_69465778.0Compositional biasNote=Poly-Ser
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000265154+14327_53665220.0DomainBAR
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000265154+14582_64565220.0DomainSH3 1
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000265154+14713_77665220.0DomainSH3 2
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000265154+1494_28565220.0DomainDH
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000420470+114327_53665778.0DomainBAR
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000420470+114582_64565778.0DomainSH3 1
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000420470+114713_77665778.0DomainSH3 2
HgeneARHGEF38chr4:106474118chr5:16463851ENST00000420470+11494_28565778.0DomainDH
TgeneZNF622chr4:106474118chr5:16463851ENST0000030868306195_242208478.0Compositional biasNote=Glu-rich
TgeneZNF622chr4:106474118chr5:16463851ENST0000030868306199_203208478.0Compositional biasNote=Poly-Glu
TgeneZNF622chr4:106474118chr5:16463851ENST00000308683064_28208478.0Zinc fingerNote=U1-type 1
TgeneZNF622chr4:106474118chr5:16463851ENST000003086830667_91208478.0Zinc fingerNote=U1-type 2


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Fusion Gene Sequence for ARHGEF38-ZNF622


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.
>6305_6305_1_ARHGEF38-ZNF622_ARHGEF38_chr4_106474118_ENST00000265154_ZNF622_chr5_16463851_ENST00000308683_length(transcript)=1289nt_BP=342nt
AGTCACAGCCAGGTAACCCTGGAGTGAAGCGGTTTAGTTAGAAGGGAGCAGATAAACTCGTCACTCTAGTAGCTTTAACCCTCACCCTGA
GGCACCTTAGCAATCAGCCATTGCCTGCAAGCCTCCAAAGCTTGTCTTTGCCTAATATGGAGCCCAAAGAAGCCACTGGGAAAGAAAACA
TGGTCACCAAGAAAAAGAATCTGGCCTTCTTGAGGTCTAGACTCTATATGCTGGAGAGAAGGAAGACTGACACTGTGGTTGAGAGCAGTG
TTTCTGGGGACCACTCTGGCACCTTGAGGAGGAGCCAATCTGACAGGACTGAATACAACCAGAAATTACAAGATTGGGAAGATATTGATT
CTGATGAAGAATTGGAATGTGAGGATACTGAAGCAATGGACGATGTGGTGGAGCAGGATGCAGAGGAGGAAGAGGCTGAGGAAGGCCCAC
CCCTTGGTGCCATCCCTATCACGGACTGCTTATTTTGTTCCCATCATTCCAGCTCGCTGATGAAGAATGTGGCTCACATGACCAAAGACC
ACAGTTTCTTTATTCCTGATATAGAATATCTTTCAGATATTAAGGGACTGATTAAATACTTGGGAGAGAAAGTTGGTGTTGGCAAGATTT
GCTTGTGGTGCAACGAGAAAGGGAAGTCCTTCTACTCCACAGAAGCTGTACAGGCACATATGAATGACAAAAGCCACTGTAAGCTCTTCA
CAGATGGCGATGCTGCTTTGGAATTTGCAGACTTCTATGATTTTAGGAGTAGCTATCCAGATCACAAGGAAGGGGAGGACCCCAATAAGG
CTGAGGAGTTGCCCTCAGAAAAGAACTTGGAATATGATGATGAAACCATGGAATTGATTCTGCCTTCTGGTGCCAGAGTGGGTCATCGCT
CCTTGATGAGATACTACAAACAGCGATTTGGCTTGTCAAGAGCTGTGGCAGTTGCCAAAAATCGGAAGGCCGTGGGCCGAGTACTTCAGC
AGTACAGAGCCCTGGGATGGACTGGCAGCACAGGAGCGGCTCTTATGCGAGAGCGAGACATGCAGTATGTCCAAAGGATGAAATCAAAAT
GGATGCTGAAGACAGGAATGAAGAACAATGCCACCAAGCAGATGCACTTTCGGGTCCAAGTGAGATTCTGAGAGTCTGCTGGGATTGAGC
AATCATCTCCTGCCCAAGTTTCCTCCTTGCCCTGAGGACCAGTGAAAGACAGATCATAGGAGAGACCCTTTTGCTGCTACTTCATTCGTT

>6305_6305_1_ARHGEF38-ZNF622_ARHGEF38_chr4_106474118_ENST00000265154_ZNF622_chr5_16463851_ENST00000308683_length(amino acids)=354AA_BP=83
MRHLSNQPLPASLQSLSLPNMEPKEATGKENMVTKKKNLAFLRSRLYMLERRKTDTVVESSVSGDHSGTLRRSQSDRTEYNQKLQDWEDI
DSDEELECEDTEAMDDVVEQDAEEEEAEEGPPLGAIPITDCLFCSHHSSSLMKNVAHMTKDHSFFIPDIEYLSDIKGLIKYLGEKVGVGK
ICLWCNEKGKSFYSTEAVQAHMNDKSHCKLFTDGDAALEFADFYDFRSSYPDHKEGEDPNKAEELPSEKNLEYDDETMELILPSGARVGH

--------------------------------------------------------------
>6305_6305_2_ARHGEF38-ZNF622_ARHGEF38_chr4_106474118_ENST00000420470_ZNF622_chr5_16463851_ENST00000308683_length(transcript)=1287nt_BP=340nt
TCACAGCCAGGTAACCCTGGAGTGAAGCGGTTTAGTTAGAAGGGAGCAGATAAACTCGTCACTCTAGTAGCTTTAACCCTCACCCTGAGG
CACCTTAGCAATCAGCCATTGCCTGCAAGCCTCCAAAGCTTGTCTTTGCCTAATATGGAGCCCAAAGAAGCCACTGGGAAAGAAAACATG
GTCACCAAGAAAAAGAATCTGGCCTTCTTGAGGTCTAGACTCTATATGCTGGAGAGAAGGAAGACTGACACTGTGGTTGAGAGCAGTGTT
TCTGGGGACCACTCTGGCACCTTGAGGAGGAGCCAATCTGACAGGACTGAATACAACCAGAAATTACAAGATTGGGAAGATATTGATTCT
GATGAAGAATTGGAATGTGAGGATACTGAAGCAATGGACGATGTGGTGGAGCAGGATGCAGAGGAGGAAGAGGCTGAGGAAGGCCCACCC
CTTGGTGCCATCCCTATCACGGACTGCTTATTTTGTTCCCATCATTCCAGCTCGCTGATGAAGAATGTGGCTCACATGACCAAAGACCAC
AGTTTCTTTATTCCTGATATAGAATATCTTTCAGATATTAAGGGACTGATTAAATACTTGGGAGAGAAAGTTGGTGTTGGCAAGATTTGC
TTGTGGTGCAACGAGAAAGGGAAGTCCTTCTACTCCACAGAAGCTGTACAGGCACATATGAATGACAAAAGCCACTGTAAGCTCTTCACA
GATGGCGATGCTGCTTTGGAATTTGCAGACTTCTATGATTTTAGGAGTAGCTATCCAGATCACAAGGAAGGGGAGGACCCCAATAAGGCT
GAGGAGTTGCCCTCAGAAAAGAACTTGGAATATGATGATGAAACCATGGAATTGATTCTGCCTTCTGGTGCCAGAGTGGGTCATCGCTCC
TTGATGAGATACTACAAACAGCGATTTGGCTTGTCAAGAGCTGTGGCAGTTGCCAAAAATCGGAAGGCCGTGGGCCGAGTACTTCAGCAG
TACAGAGCCCTGGGATGGACTGGCAGCACAGGAGCGGCTCTTATGCGAGAGCGAGACATGCAGTATGTCCAAAGGATGAAATCAAAATGG
ATGCTGAAGACAGGAATGAAGAACAATGCCACCAAGCAGATGCACTTTCGGGTCCAAGTGAGATTCTGAGAGTCTGCTGGGATTGAGCAA
TCATCTCCTGCCCAAGTTTCCTCCTTGCCCTGAGGACCAGTGAAAGACAGATCATAGGAGAGACCCTTTTGCTGCTACTTCATTCGTTCT

>6305_6305_2_ARHGEF38-ZNF622_ARHGEF38_chr4_106474118_ENST00000420470_ZNF622_chr5_16463851_ENST00000308683_length(amino acids)=354AA_BP=83
MRHLSNQPLPASLQSLSLPNMEPKEATGKENMVTKKKNLAFLRSRLYMLERRKTDTVVESSVSGDHSGTLRRSQSDRTEYNQKLQDWEDI
DSDEELECEDTEAMDDVVEQDAEEEEAEEGPPLGAIPITDCLFCSHHSSSLMKNVAHMTKDHSFFIPDIEYLSDIKGLIKYLGEKVGVGK
ICLWCNEKGKSFYSTEAVQAHMNDKSHCKLFTDGDAALEFADFYDFRSSYPDHKEGEDPNKAEELPSEKNLEYDDETMELILPSGARVGH

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Fusion Gene PPI Analysis for ARHGEF38-ZNF622


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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Related Drugs for ARHGEF38-ZNF622


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

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Related Diseases for ARHGEF38-ZNF622


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