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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:C3orf58-SLC9A9 (FusionGDB2 ID:HG205428TG285195)

Fusion Gene Summary for C3orf58-SLC9A9

check button Fusion gene summary
Fusion gene informationFusion gene name: C3orf58-SLC9A9
Fusion gene ID: hg205428tg285195
HgeneTgene
Gene symbol

C3orf58

SLC9A9

Gene ID

205428

285195

Gene namedivergent protein kinase domain 2Asolute carrier family 9 member A9
SynonymsC3orf58|DIA1|GoPro49|HASFAUTS16|NHE9
Cytomap('C3orf58')('SLC9A9')

3q24

3q24

Type of geneprotein-codingprotein-coding
Descriptiondivergent protein kinase domain 2AGolgi Protein of 49 kDaGolgi protein GoPro49UPF0672 protein C3orf58deleted in autism 1deleted in autism protein 1hypoxia and AKT-induced stem cell factorhypoxia and Akt induced stem cell factorsodium/hydrogen exchanger 9Na(+)/H(+) exchanger 9putative protein product of Nbla00118sodium/proton exchanger NHE9solute carrier family 9 (sodium/hydrogen exchanger)solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9
Modification date2020031320200313
UniProtAcc..
Ensembl transtripts involved in fusion geneENST00000493396, ENST00000315691, 
ENST00000441925, ENST00000495414, 
Fusion gene scores* DoF score1 X 1 X 1=18 X 7 X 6=336
# samples 19
** MAII scorelog2(1/1*10)=3.32192809488736log2(9/336*10)=-1.90046432644909
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C3orf58 [Title/Abstract] AND SLC9A9 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC3orf58(143691831)-SLC9A9(143515745), # 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
HgeneC3orf58

GO:0014066

regulation of phosphatidylinositol 3-kinase signaling

23784961

HgeneC3orf58

GO:0060038

cardiac muscle cell proliferation

23784961


check buttonFusion gene breakpoints across C3orf58 (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 SLC9A9 (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
ChimerDB4COADTCGA-A6-2674-01AC3orf58chr3

143691831

+SLC9A9chr3

143515745

-


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Fusion Gene ORF analysis for C3orf58-SLC9A9

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
3UTR-3CDSENST00000493396ENST00000316549C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
3UTR-intronENST00000493396ENST00000498717C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
5CDS-intronENST00000315691ENST00000498717C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
In-frameENST00000315691ENST00000316549C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
intron-3CDSENST00000441925ENST00000316549C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
intron-3CDSENST00000495414ENST00000316549C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
intron-intronENST00000441925ENST00000498717C3orf58chr3

143691831

+SLC9A9chr3

143515745

-
intron-intronENST00000495414ENST00000498717C3orf58chr3

143691831

+SLC9A9chr3

143515745

-

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)
ENST00000315691C3orf58chr3143691831+ENST00000316549SLC9A9chr3143515745-423211925352751738

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
ENST00000315691ENST00000316549C3orf58chr3143691831+SLC9A9chr3143515745-0.0055787240.9944213

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Fusion Genomic Features for C3orf58-SLC9A9


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 C3orf58-SLC9A9


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/chr3:143691831/chr3:143515745)
- 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
..
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}.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
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116127_147126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116165_185126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116204_224126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116236_256126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116278_298126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116302_322126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116323_343126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116365_385126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116387_407126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116430_450126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST00000316549116466_486126646.0TransmembraneHelical

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
TgeneSLC9A9chr3:143691831chr3:143515745ENST0000031654911621_41126646.0TransmembraneHelical
TgeneSLC9A9chr3:143691831chr3:143515745ENST0000031654911646_66126646.0TransmembraneHelical


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Fusion Gene Sequence for C3orf58-SLC9A9


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.
>11728_11728_1_C3orf58-SLC9A9_C3orf58_chr3_143691831_ENST00000315691_SLC9A9_chr3_143515745_ENST00000316549_length(transcript)=4232nt_BP=1192nt
CTTGGTCTCAGGAGAGCCAGCGCGCACAAGCAAGGGTGTGCGGCTCTGAGACGTGCGTTGCTGCTTGTGGGTGTGAGACATCCTAGCTCC
TCTTCCCCTTCCGTGAGTCCCTCCTTTCCTCGCAGACCCCACTTGTCGTGGCTGGCTGCCGCCGCAGCTCTTGTGCGAAGCCAGCAGTGC
GCGTGCGCGCGGGCACGGGCGCGCGACCGTCGGGTCCCCGCGCTCCCTCCCCCTCCCGCTCCTCTATAACTTGGCTGGCGTGGAGGAGGC
GCCGCCGGAGTCGGAGGGCGGGGAGCTAGGAGGAGGGAGCTCGAGAGTTGTGGAGACTAGTGACTGGGAGAAGTCGCAGCCCGCTCAGGC
CCGCGCCTTCCCGCTCCCCGTCTTCCTCTCTCACACACCTACTCCGCCCTCCGCCCCAGCCCGCGCGCTAGCTCCTTCTCTCGCCCGGGG
TTCCTGCCGGTAGCTCTCCGGGTCTTGGCGCGGCGGGGGCGCCCCGGGGGTGCCCTCGCCCTCCCGTTGCGGGCGGGCGGGCGGTATGTG
GCGCCTGGTGCCCCCGAAGCTGGGCCGCCTGTCCCGCTCGCTGAAGCTGGCGGCGCTGGGCAGCCTGTTGGTGCTGATGGTGCTGCACTC
GCCGTCGCTGCTCGCCTCTTGGCAGCGCAACGAACTGACCGACCGGCGCTTCCTGCAGCTCAATAAGTGCCCGGCGTGCTTCGGCACGAG
CTGGTGCCGCCGCTTCCTCAACGGGCAGGTGGTATTCGAGGCGTGGGGCCGCTTGCGCCTGCTGGACTTCCTCAACGTGAAGAACGTGTA
CTTCGCGCAGTACGGCGAGCCCCGCGAGGGCGGCCGCCGCCGAGTGGTGCTCAAGCGCCTCGGCTCGCAGCGCGAGCTGGCGCAGCTCGA
CCAGAGCATCTGCAAGCGGGCCACCGGCCGGCCCCGCTGCGACCTGCTGCAGGCCATGCCCCGGACCGAGTTCGCGCGCCTCAACGGCGA
CGTGCGTCTGCTCACGCCCGAGGCGGTGGAGGGCTGGTCGGACCTGGTGCACTGCCCCTCGCAGCGCCTTCTCGACCGCCTGGTGCGCCG
CTACGCGGAGACCAAGGACTCGGGCAGCTTCCTGCTTCGCAACCTCAAGGACTCGGAGCGCATGCAGCTGCTGCTGACCCTGGCCTTCAA
CCCCGAGCCGCTGGTGCTACAGATGACATTTGATCCAGAAATCTTCTTCAATGTTTTACTGCCACCAATTATATTTCATGCAGGATATAG
TCTAAAGAAGAGACACTTTTTTCAAAACTTAGGATCTATTTTAACGTATGCCTTCTTGGGAACTGCCATCTCCTGCATCGTCATAGGGTT
AATTATGTATGGTTTTGTGAAGGCTATGATACATGCTGGCCAGCTGAAAAATGGAGACTTTCATTTCACTGACTGTTTATTTTTTGGTTC
ACTGATGTCTGCTACAGATCCAGTGACAGTGCTGGCCATTTTCCATGAACTGCACGTCGACCCTGACCTGTACACACTCTTGTTTGGAGA
GAGTGTGTTGAATGATGCAGTGGCCATAGTCCTTACATATTCTATATCCATTTACAGTCCCAAGGAGAATCCAAATGCATTTGATGCCGC
AGCATTCTTCCAGTCTGTGGGGAATTTCCTGGGAATCTTCGCTGGCTCATTTGCAATGGGGTCTGCGTATGCCATCATCACAGCACTGTT
GACCAAATTTACCAAGCTGTGTGAGTTCCCGATGCTGGAAACCGGCCTGTTTTTCCTGCTTTCTTGGAGTGCCTTCCTGTCTGCCGAGGC
TGCCGGCCTAACAGGGATAGTTGCTGTTCTCTTCTGTGGAGTCACACAAGCACATTATACCTACAACAATCTGTCTTCGGATTCCAAAAT
AAGAACTAAACAGTTGTTTGAATTTATGAACTTTTTGGCGGAGAACGTCATCTTCTGTTACATGGGCCTGGCACTGTTCACGTTCCAGAA
TCATATCTTTAATGCTCTTTTTATACTTGGAGCCTTTCTAGCAATTTTTGTTGCCAGAGCCTGCAACATATATCCCCTCTCCTTCCTCCT
GAATCTAGGCCGAAAACAGAAGATCCCCTGGAACTTTCAGCACATGATGATGTTTTCAGGTTTGCGAGGAGCGATCGCATTTGCCTTAGC
TATTCGGAACACAGAATCTCAGCCCAAACAAATGATGTTTACCACTACGCTGCTCCTCGTGTTCTTCACTGTCTGGGTATTTGGAGGAGG
AACAACCCCCATGTTGACTTGGCTTCAGATCAGAGTTGGCGTGGACCTGGATGAAAATCTGAAGGAGGACCCCTCCTCACAACACCAGGA
AGCAAATAACTTGGATAAAAACATGACGAAAGCAGAGAGTGCTCGGCTCTTCAGAATGTGGTATAGCTTTGACCACAAGTATCTGAAACC
AATTTTAACCCACTCTGGTCCTCCGCTGACTACAACATTACCTGAATGGTGTGGTCCGATTTCCAGGCTGCTTACCAGTCCTCAAGCCTA
TGGGGAACAGCTAAAAGAGGATGATGTGGAATGCATTGTAAACCAGGATGAACTAGCCATAAATTACCAGGAGCAAGCCTCCTCACCCTG
CAGTCCTCCTGCAAGGCTAGGTCTGGACCAGAAAGCTTCACCCCAGACGCCAGGCAAGGAAAACATTTATGAGGGAGACCTCGGCCTGGG
AGGCTATGAACTCAAGCTTGAGCAAACTTTGGGTCAATCCCAGTTGAATTAATTGGCATGAAGAGTACAGATGTAATCACAAGTAATGCA
AGACTCACTGAGGAATACAAGCCAAGCTGATGAGGCAGTACAGGGGAGAGGCTGGAAAACATATTAAGAGCATAAATTGGAGAGAATCAA
AGCCTTGTCACATGGATCCTCTGGTGCCTGAAGAAATGAGATTTTATTATCCCTCTCTATTATGCAAATGAATTTAGTTTTTTGACAGCA
GCCATTCTGATTACTGGATTGGCTGGGGTGGGGATGGAGGTATCAGGAGTCTAGCTGCTGGAGGATGGGACAGCTGTGCTGGGTCTTCAG
GGCATTTCTGCTGCGAATGCGGCTCTCCAGGCCCTTCACTTCTATTCTGGATTTTATTCCCTCCATTAAGGAGAGTTTAAAAATAAAAGA
AAGCTTCTGAGAGTAAACATTTTGCTCCTAAGCTGAAGGGAATGCCCAGCTATTTAGTAAGTGATAAGTTTCTTATTTTGAGGACTTGAC
TCCCATTTGCTCTCAGTGACCCCAGGGCAGAGCCCAGAGAAGTGTTCCGTACCCACTGCTGATGGTTTCCCAGAGCCCACACTGAGTTGA
AGAACCTATTGTTCTTCTTGGCATCCTTCTTATGCTACTTCTCCCATCGCTCAAAGGGGTTGCCTATGGCTGGGTGTGCCCTGCCCTAAA
TGCAGCACCACTTTCAAGCTTAGTAGGACCATTCCAAGAAAACCAGGTTTCTTCTCCCCATACCACGTTGTGCCTGAAGAACAAGCCTTC
CCGTCCTTGCCTGCATGTGAGTCACTTCTTGGCTGTGCAGCAGGTCCCCCCCTCCCCGCGATATGCTGGAGGGTAGGATTCTGCAGCCTG
TGTTGCTCTCTACCTGGCAGCAGACTGTGCAGGAGCCCCAACCTGTCCTCCAATTCCAGCATTCACAGCTGATGAGCAGTGCAGGAGCAG
GGCGAGAGGAACAGAGCCAATGATGTGTGGGTTACACTGAGGAGCCAAGGACAGGGCCTCAGGTCTCCCCCTTACAAGGCGTGGCTCATG
GCCTGCATTCCAGAGACCAACATGATAGCTTTTAATTCAGCTGCATGACCTGTGCCTTTTAAGCCATAAAGATACCTCAAGCCTAGCACC
TCTTGAAATCCAGATGTTCATATTAGACTCGAAAAAATAGGCTCCAGGCCTAGGTGCCCAGGCTATGATGAGTCTGCTTTTGAAGGAGGT
AGGGAATGACATCTTCCTTGGACCCAAAGCTTAAAAGTAATGTATGCTTTGCTGACCACTGTTTGTTAGGCCTTAAACAACATTCACTGT
GGTGGTATCAGGCACACTGCTATGTGCATCAATTATTTTTTTGCTTTCCAAACAGAATCTCTGGGGCACAAGTTTTACACTCAAGCTAAG
TATAACTTTGTCATTTCAGGTAAATATGACAAGTGGTGGAGCATGAAGTTTTCTAATTTGACTTAATCCTAATAAATTTTTGTTACAAAG
TA

>11728_11728_1_C3orf58-SLC9A9_C3orf58_chr3_143691831_ENST00000315691_SLC9A9_chr3_143515745_ENST00000316549_length(amino acids)=738AA_BP=185
MWRLVPPKLGRLSRSLKLAALGSLLVLMVLHSPSLLASWQRNELTDRRFLQLNKCPACFGTSWCRRFLNGQVVFEAWGRLRLLDFLNVKN
VYFAQYGEPREGGRRRVVLKRLGSQRELAQLDQSICKRATGRPRCDLLQAMPRTEFARLNGDVRLLTPEAVEGWSDLVHCPSQRLLDRLV
RRYAETKDSGSFLLRNLKDSERMQLLLTLAFNPEPLVLQMTFDPEIFFNVLLPPIIFHAGYSLKKRHFFQNLGSILTYAFLGTAISCIVI
GLIMYGFVKAMIHAGQLKNGDFHFTDCLFFGSLMSATDPVTVLAIFHELHVDPDLYTLLFGESVLNDAVAIVLTYSISIYSPKENPNAFD
AAAFFQSVGNFLGIFAGSFAMGSAYAIITALLTKFTKLCEFPMLETGLFFLLSWSAFLSAEAAGLTGIVAVLFCGVTQAHYTYNNLSSDS
KIRTKQLFEFMNFLAENVIFCYMGLALFTFQNHIFNALFILGAFLAIFVARACNIYPLSFLLNLGRKQKIPWNFQHMMMFSGLRGAIAFA
LAIRNTESQPKQMMFTTTLLLVFFTVWVFGGGTTPMLTWLQIRVGVDLDENLKEDPSSQHQEANNLDKNMTKAESARLFRMWYSFDHKYL
KPILTHSGPPLTTTLPEWCGPISRLLTSPQAYGEQLKEDDVECIVNQDELAINYQEQASSPCSPPARLGLDQKASPQTPGKENIYEGDLG
LGGYELKLEQTLGQSQLN

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Fusion Gene PPI Analysis for C3orf58-SLC9A9


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 C3orf58-SLC9A9


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 C3orf58-SLC9A9


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneC0004352Autistic Disorder1CTD_human
TgeneC3150677AUTISM, SUSCEPTIBILITY TO, 161GENOMICS_ENGLAND