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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:ARHGAP19-CYB5A (FusionGDB2 ID:HG84986TG1528)

Fusion Gene Summary for ARHGAP19-CYB5A

check button Fusion gene summary
Fusion gene informationFusion gene name: ARHGAP19-CYB5A
Fusion gene ID: hg84986tg1528
HgeneTgene
Gene symbol

ARHGAP19

CYB5A

Gene ID

84986

1528

Gene nameRho GTPase activating protein 19cytochrome b5 type A
Synonyms-CYB5|MCB5|METAG
Cytomap('ARHGAP19')('CYB5A')

10q24.1

18q22.3

Type of geneprotein-codingprotein-coding
Descriptionrho GTPase-activating protein 19putative RhoGAP proteinrho-type GTPase-activating protein 19cytochrome b5cytochrome b5 type A (microsomal)epididymis secretory sperm binding proteintype 1 cyt-b5
Modification date2020031320200313
UniProtAcc

Q14CB8

.
Ensembl transtripts involved in fusion geneENST00000358531, ENST00000355366, 
ENST00000371027, ENST00000487035, 
Fusion gene scores* DoF score2 X 3 X 4=2412 X 9 X 7=756
# samples 413
** MAII scorelog2(4/24*10)=0.736965594166206
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(13/756*10)=-2.53987461119262
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: ARHGAP19 [Title/Abstract] AND CYB5A [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointARHGAP19(99052329)-CYB5A(71930712), # samples:5
Anticipated loss of major functional domain due to fusion event.ARHGAP19-CYB5A 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.
ARHGAP19-CYB5A 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

check buttonFusion gene breakpoints across ARHGAP19 (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 CYB5A (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
ChimerDB4KIRCTCGA-AS-3777-01AARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
ChimerDB4LIHCTCGA-DD-A115-01AARHGAP19chr10

99052329

-CYB5Achr18

71930712

-


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Fusion Gene ORF analysis for ARHGAP19-CYB5A

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-5UTRENST00000358531ENST00000299438ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
5CDS-intronENST00000358531ENST00000579064ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
In-frameENST00000358531ENST00000340533ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
In-frameENST00000358531ENST00000397914ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
In-frameENST00000358531ENST00000494131ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000355366ENST00000340533ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000355366ENST00000397914ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000355366ENST00000494131ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000371027ENST00000340533ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000371027ENST00000397914ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000371027ENST00000494131ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000487035ENST00000340533ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000487035ENST00000397914ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-3CDSENST00000487035ENST00000494131ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-5UTRENST00000355366ENST00000299438ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-5UTRENST00000371027ENST00000299438ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-5UTRENST00000487035ENST00000299438ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-intronENST00000355366ENST00000579064ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-intronENST00000371027ENST00000579064ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-
intron-intronENST00000487035ENST00000579064ARHGAP19chr10

99052329

-CYB5Achr18

71930712

-

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)
ENST00000358531ARHGAP19chr1099052329-ENST00000340533CYB5Achr1871930712-649853470116
ENST00000358531ARHGAP19chr1099052329-ENST00000494131CYB5Achr1871930712-67285236079
ENST00000358531ARHGAP19chr1099052329-ENST00000397914CYB5Achr1871930712-477853170106

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
ENST00000358531ENST00000340533ARHGAP19chr1099052329-CYB5Achr1871930712-0.254157870.74584216
ENST00000358531ENST00000494131ARHGAP19chr1099052329-CYB5Achr1871930712-0.660697160.33930287
ENST00000358531ENST00000397914ARHGAP19chr1099052329-CYB5Achr1871930712-0.186925860.8130742

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Fusion Genomic Features for ARHGAP19-CYB5A


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 ARHGAP19-CYB5A


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/chr10:99052329/chr18:71930712)
- 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
ARHGAP19

Q14CB8

.
FUNCTION: GTPase activator for the Rho-type GTPases by converting them to an inactive GDP-bound state. {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
TgeneCYB5Achr10:99052329chr18:71930712ENST0000034053305109_13143135.0TransmembraneHelical
TgeneCYB5Achr10:99052329chr18:71930712ENST0000039791404109_13143125.0TransmembraneHelical
TgeneCYB5Achr10:99052329chr18:71930712ENST0000049413106109_13143125.66666666666667TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneARHGAP19chr10:99052329chr18:71930712ENST00000358531-112102_30818495.0DomainRho-GAP
HgeneARHGAP19chr10:99052329chr18:71930712ENST00000371027-112102_3080486.0DomainRho-GAP
TgeneCYB5Achr10:99052329chr18:71930712ENST00000340533059_8543135.0DomainCytochrome b5 heme-binding
TgeneCYB5Achr10:99052329chr18:71930712ENST00000397914049_8543125.0DomainCytochrome b5 heme-binding
TgeneCYB5Achr10:99052329chr18:71930712ENST00000494131069_8543125.66666666666667DomainCytochrome b5 heme-binding


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Fusion Gene Sequence for ARHGAP19-CYB5A


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.
>5971_5971_1_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000340533_length(transcript)=649nt_BP=85nt
GGGGCGGTGAAAGAAGTTTGCTGACGAAGATGGCGACTGAGGCACAGAGTGAAGGGGAGGTGCCAGCCCGCGAATCCGGCCGGAGCATCC
TGGTGGGGAAGAAGTTTTAAGGGAACAAGCTGGAGGTGACGCTACTGAGAACTTTGAGGATGTCGGGCACTCTACAGATGCCAGGGAAAT
GTCCAAAACATTCATCATTGGGGAGCTCCATCCAGATGACAGACCAAAGTTAAACAAGCCTCCGGAAACTCTTATCACTACTATTGATTC
TAGTTCCAGTTGGTGGACCAACTGGGTGATCCCTGCCATCTCTGCAGTGGCCGTCGCCTTGATGTATCGCCTATACATGGCAGAGGACTG
AACACCTCCTCAGAAGTCAGCGCAGGAAGAGCCTGCTTTGGACACGGGAGAAAAGAAGCCATTGCTAACTACTTCAACTGACAGAAACCT
TCACTTGAAAACAATGATTTTAATATATCTCTTTCTTTTTCTTCCGACATTAGAAACAAAACAAAAAGAACTGTCCTTTCTGCGCTCAAA
TTTTTCGAGTGTGCCTTTTTATTCATCTACTTTATTTTGATGTTTCCTTAATGTGTAATTTACTTATTATAAGCATGATCTTTTAAAAAT

>5971_5971_1_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000340533_length(amino acids)=116AA_BP=0
MYRRYIKATATAEMAGITQLVHQLELESIVVIRVSGGLFNFGLSSGWSSPMMNVLDISLASVECPTSSKFSVASPPACSLKTSSPPGCSG

--------------------------------------------------------------
>5971_5971_2_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000397914_length(transcript)=477nt_BP=85nt
GGGGCGGTGAAAGAAGTTTGCTGACGAAGATGGCGACTGAGGCACAGAGTGAAGGGGAGGTGCCAGCCCGCGAATCCGGCCGGAGCATCC
TGGTGGGGAAGAAGTTTTAAGGGAACAAGCTGGAGGTGACGCTACTGAGAACTTTGAGGATGTCGGGCACTCTACAGATGCCAGGGAAAT
GTCCAAAACATTCATCATTGGGGAGCTCCATCCAGAAACTCTTATCACTACTATTGATTCTAGTTCCAGTTGGTGGACCAACTGGGTGAT
CCCTGCCATCTCTGCAGTGGCCGTCGCCTTGATGTATCGCCTATACATGGCAGAGGACTGAACACCTCCTCAGAAGTCAGCGCAGGAAGA
GCCTGCTTTGGACACGGGAGAAAAGAAGCCATTGCTAACTACTTCAACTGACAGAAACCTTCACTTGAAAACAATGATTTTAATATATCT

>5971_5971_2_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000397914_length(amino acids)=106AA_BP=0
MYRRYIKATATAEMAGITQLVHQLELESIVVIRVSGWSSPMMNVLDISLASVECPTSSKFSVASPPACSLKTSSPPGCSGRIRGLAPPLH

--------------------------------------------------------------
>5971_5971_3_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000494131_length(transcript)=672nt_BP=85nt
GGGGCGGTGAAAGAAGTTTGCTGACGAAGATGGCGACTGAGGCACAGAGTGAAGGGGAGGTGCCAGCCCGCGAATCCGGCCGGAGCATCC
TGGTGGGGAAGAAGTTTTAAGGGAACAAGCTGGAGGTGACGCTACTGAGAACTTTGAGGATGTCGGGCACTCTACAGATGCCAGGGAAAT
GTCCAAAACATTCATCATTGGGGAGCTCCATCCAGATGACAGACCAAAGTTAAACAAGCCTCCGGAACCTTAAAGGCGGTGTTTCAAGGA
AACTCTTATCACTACTATTGATTCTAGTTCCAGTTGGTGGACCAACTGGGTGATCCCTGCCATCTCTGCAGTGGCCGTCGCCTTGATGTA
TCGCCTATACATGGCAGAGGACTGAACACCTCCTCAGAAGTCAGCGCAGGAAGAGCCTGCTTTGGACACGGGAGAAAAGAAGCCATTGCT
AACTACTTCAACTGACAGAAACCTTCACTTGAAAACAATGATTTTAATATATCTCTTTCTTTTTCTTCCGACATTAGAAACAAAACAAAA
AGAACTGTCCTTTCTGCGCTCAAATTTTTCGAGTGTGCCTTTTTATTCATCTACTTTATTTTGATGTTTCCTTAATGTGTAATTTACTTA

>5971_5971_3_ARHGAP19-CYB5A_ARHGAP19_chr10_99052329_ENST00000358531_CYB5A_chr18_71930712_ENST00000494131_length(amino acids)=79AA_BP=1

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

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Fusion Gene PPI Analysis for ARHGAP19-CYB5A


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 ARHGAP19-CYB5A


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 ARHGAP19-CYB5A


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC4285231METHEMOGLOBINEMIA AND AMBIGUOUS GENITALIA3GENOMICS_ENGLAND;UNIPROT
TgeneC0014175Endometriosis1CTD_human
TgeneC0028754Obesity1CTD_human
TgeneC0035222Respiratory Distress Syndrome, Adult1CTD_human
TgeneC0268285Adrenal hyperplasia, congenital, type 51ORPHANET
TgeneC0269102Endometrioma1CTD_human