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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:C22orf34-MSL2 (FusionGDB2 ID:HG348645TG55167)

Fusion Gene Summary for C22orf34-MSL2

check button Fusion gene summary
Fusion gene informationFusion gene name: C22orf34-MSL2
Fusion gene ID: hg348645tg55167
HgeneTgene
Gene symbol

C22orf34

MSL2

Gene ID

348645

55167

Gene namechromosome 22 open reading frame 34MSL complex subunit 2
Synonyms-MSL-2|MSL2L1|RNF184
Cytomap('C22orf34')('MSL2')

22q13.33

3q22.3

Type of geneprotein-codingprotein-coding
Descriptionputative uncharacterized protein C22orf34uncharacterized protein C22orf34E3 ubiquitin-protein ligase MSL2E3 ubiquitin-protein transferase MSL2MSL2-like 1male-specific lethal 2 homologmale-specific lethal 2-like 1male-specific lethal-2 homolog 1ring finger protein 184
Modification date2020031320200313
UniProtAcc

Q6ZV56

.
Ensembl transtripts involved in fusion geneENST00000400023, ENST00000405854, 
ENST00000444628, ENST00000498829, 
Fusion gene scores* DoF score6 X 3 X 4=7210 X 8 X 7=560
# samples 614
** MAII scorelog2(6/72*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(14/560*10)=-2
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: C22orf34 [Title/Abstract] AND MSL2 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointC22orf34(50051053)-MSL2(135871580), # samples:1
Anticipated loss of major functional domain due to fusion event.C22orf34-MSL2 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.
C22orf34-MSL2 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.
C22orf34-MSL2 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.
C22orf34-MSL2 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
TgeneMSL2

GO:0043984

histone H4-K16 acetylation

20018852


check buttonFusion gene breakpoints across C22orf34 (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 MSL2 (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
ChimerDB4STADTCGA-BR-8078-01AC22orf34chr22

50051053

-MSL2chr3

135871580

-


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Fusion Gene ORF analysis for C22orf34-MSL2

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-5UTRENST00000400023ENST00000434835C22orf34chr22

50051053

-MSL2chr3

135871580

-
In-frameENST00000400023ENST00000309993C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-3CDSENST00000405854ENST00000309993C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-3CDSENST00000444628ENST00000309993C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-3CDSENST00000498829ENST00000309993C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-5UTRENST00000405854ENST00000434835C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-5UTRENST00000444628ENST00000434835C22orf34chr22

50051053

-MSL2chr3

135871580

-
intron-5UTRENST00000498829ENST00000434835C22orf34chr22

50051053

-MSL2chr3

135871580

-

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)
ENST00000400023C22orf34chr2250051053-ENST00000309993MSL2chr3135871580-39551381431729528

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
ENST00000400023ENST00000309993C22orf34chr2250051053-MSL2chr3135871580-0.0002615850.9997384

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Fusion Genomic Features for C22orf34-MSL2


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 C22orf34-MSL2


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/chr22:50051053/chr3:135871580)
- 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
C22orf34

Q6ZV56

.
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
TgeneMSL2chr22:50051053chr3:135871580ENST0000030999302396_46347578.0Compositional biasNote=Lys-rich
TgeneMSL2chr22:50051053chr3:135871580ENST0000043483502396_4630504.0Compositional biasNote=Lys-rich
TgeneMSL2chr22:50051053chr3:135871580ENST000004348350244_850504.0Zinc fingerRING-type

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneC22orf34chr22:50051053chr3:135871580ENST00000400023-1479_9818184.0Compositional biasNote=Cys-rich
TgeneMSL2chr22:50051053chr3:135871580ENST000003099930244_8547578.0Zinc fingerRING-type


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Fusion Gene Sequence for C22orf34-MSL2


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.
>11569_11569_1_C22orf34-MSL2_C22orf34_chr22_50051053_ENST00000400023_MSL2_chr3_135871580_ENST00000309993_length(transcript)=3955nt_BP=138nt
CGTGTGCGGTCCCTCCCCCTCACGTTCTCTCTTCCTCTGCTCCGCCATGATGAGAAGCGCCTGCTTCCCCTTCCCCTTCCGCCATGATTG
TGTTTCCTGAGACCTCCCAGCCACGCTTCCTGTACAGCCTGCAGAACTGACATTTGCTACAAGATCCTATTGCACCCACCAACTCCACCT
GCCAACATTATGTCTGCAAAACTTGTAAAGGCAAGAAAATGATGATGAAACCTTCCTGTAGCTGGTGCAAAGACTATGAGCAGTTTGAGG
AAAACAAGCAGTTAAGCATCCTAGTGAACTGCTACAAAAAACTATGCGAGTATATAACACAGACTACACTGGCACGGGATATAATAGAAG
CAGTTGACTGTTCTTCTGATATTTTGGCTTTGCTTAATGATGGATCATTGTTTTGTGAGGAGACAGAAAAACCCTCAGATTCATCCTTTA
CTTTGTGTTTGACACATTCCCCTTTACCTTCAACCTCAGAACCCACAACTGATCCTCAAGCTAGTTTATCTCCAATGTCTGAAAGCACCC
TCAGCATTGCTATTGGCAGTTCTGTTATCAATGGTTTGCCTACTTATAATGGGCTTTCAATAGATAGATTTGGTATAAATATTCCTTCAC
CTGAACATTCAAATACGATTGACGTATGTAATACTGTTGACATAAAAACTGAGGATCTGTCTGACAGCCTGCCACCCGTTTGTGACACAG
TAGCCACTGACTTATGTTCCACAGGCATTGATATCTGCAGTTTCAGTGAAGATATAAAACCTGGAGACTCTCTGTTACTGAGTGTTGAGG
AAGTACTCCGCAGCTTAGAAACTGTTTCAAATACAGAGGTCTGTTGCCCTAATTTGCAGCCGAACTTGGAAGCCACTGTATCCAATGGAC
CTTTTCTGCAGCTTTCTTCCCAGTCTCTTAGCCATAATGTTTTTATGTCCACCAGTCCTGCACTTCATGGGTTATCATGTACAGCAGCAA
CTCCGAAGATAGCAAAATTGAATAGAAAACGATCCAGATCAGAGAGTGACAGTGAGAAAGTTCAGCCACTTCCAATTTCTACCATTATCC
GAGGCCCAACACTGGGGGCATCTGCTCCTGTGACAGTGAAACGGGAGAGCAAAATTTCTCTTCAACCTATAGCAACTGTTCCCAATGGAG
GCACAACACCTAAAATCAGCAAAACTGTACTTTTATCTACTAAAAGCATGAAAAAGAGTCATGAACATGGATCCAAGAAATCTCACTCTA
AAACCAAGCCAGGTATTCTTAAAAAAGACAAAGCAGTAAAGGAAAAGATTCCTAGTCATCATTTTATGCCAGGAAGTCCTACCAAGACTG
TGTACAAAAAACCCCAGGAAAAGAAAGGGTGTAAATGTGGGCGTGCTACTCAAAATCCAAGTGTTCTTACATGCCGAGGCCAACGCTGCC
CTTGCTACTCTAACCGCAAAGCCTGCTTAGATTGTATATGTCGTGGCTGCCAAAACTCCTATATGGCCAATGGGGAGAAGAAGCTGGAGG
CATTTGCCGTGCCAGAAAAGGCCTTGGAGCAGACCAGGCTCACTTTGGGCATTAACGTGACTAGCATTGCTGTGCGTAACGCTAGTACCA
GCACCAGTGTAATAAATGTCACAGGGTCCCCAGTAACGACGTTTTTAGCTGCCAGTACACATGATGATAAAAGTTTGGATGAAGCTATAG
ACATGAGATTCGACTGTTAAATCAGTGGGTCTTTTAAACCTACTCCTGGTAGGGAAATAGCTACAGTTTTACGGCAGCTATGGTTCTGTT
GGTTTAACTTGCCGGAGCTCCTGCATATAGATCACTTGTATCAAGTGTTTTCATTGCTAAGTTATATGTGTTAGTGTCGGGGAAATAGTT
TGCAGATAATGGAGGAGTAACCCTACAACTATATGTCCTTAGTTCTTACAGAACCTCATAGTTTGAGAACAAAGCTGATGCAACTGATTT
ATACAAAATGAACTTTGGCAAGAAAAATAACATTAACCTCATTGTTTATGGCCATGCTTTGTGCATAATCAAAGTTTATGATTAAATGTA
AGGAAGTGGTATCTAGTCAGTCCATAAAGATTGTGCTAATTTTTTTGTGGAAAAGTAGCCATTAGTTCAGGAAACTCAGTGCTGCCTTCA
GATGTCATTGATGTTTCTCCTGTTGGAAAGCTGATGTGTCCAGCTCAACCTTTGTGCTGACATCATACCATTTCTGATCATGAAATATTG
GCTACTGGTGTATGTAGCAGTTCTTAAATCAGCAGTATTATGAAAAAAAATTCCCCCTCATTAGAATGTTTAAGAAATCTTTTTAAAAAG
TAAAATTCTGTCAGACTACAAATGTTTAGCTGTTACTCATTTCTAGGGAAGAAATTCTAAATCCCTCCTTCACTTTGAGCAGTGTTCTAA
TTGGATAAATGAAGGAGAGTAGTTTTATTCTGAAGGTAATTAAATTTAGACTATGTAGTATGTGACAGAATTTTTTTAAAATTATAAAAA
GATTTTATTTAGTAATTGGGATTTACTTAAAATAATTTTGGAATAATGCTCCCAGACTTGCCCAGATTTGTGTATTGTACTTATTGCCAC
TGGCCGCCACTTTGACTTATTTTCTCTAATAGTTTATTTGCCACAGTCTTTATTTTGAATATGCTCCTAGTTTTTTTTTAGGGTGCTGTT
CATTATGAAGGCTTCTTTATAGAGGCCTAATAAGAATGCCTTTTTATAAAGCCTGTGCATTTAGGTAGGTTGAAGCTAGGAGGATTTTCT
TTAGAATGCTCTTTTGCATGTAAAGCACAAAGTATGTTTCAGTTTAAATGCACTTCTTCCGGTTAATTTTTATGGGGAAGACAAGTGAGT
CACAAACATTCTGTTGAAGGGAAATCTAGTCAGTTGCTTGAAAGAGCACAGCCCAAATAAAACAAGGACTGACTAGGTGTAATGAAATAA
CCTGTGATTTAAAAGAAGAGCTGCAGCTTTGACAGTGCTTATTTAAAGAAAAATACTGCTGGAAAATTTCCAATTTCTACTACGTTCACC
ATCTCTAGTAAGATCTGACATATGCTGAAGTTATGTTTTGATTTGGCACACAGCATGTTCAATGATGGTTACTCGCCTAGTACAAGACAT
GGAGAAGAAACCTTTGGACACAGAGCAGATGACACCTCCTTCTGTTTTGTAGTGTATCCTGGTGTCATTTTCTGTGAATGTGGTCAGGTA
GAGTTGTTTTTGTTGTTGTTGTTGGGCTTTTTTTTCTTTTTTTTTTTTTGGTCTCTTTTGGTGGGGTGGGGGTGGGCTAAAGCCATAGGA
AGAAAAATGTGATGTATGTGTCCAGTATGTACTATTTTGTTTTTGTTTTGCAAGAAGAGTTGAACTATTTTTGATAACAAGAGTAAATGG
TGGAAAATGCTTCTTAGTTGTCTTGTCTTTATTTGCTTTCCAAGATTTGGAATTTTATTTAATTCCTTTAAGTGTTAGCAGTGTCTTATG
AAACGTGTATTTACCTAACGTTTGTAACAGTTTTGTGTTGAACCCAGATGCCCTGCTATATAAAGTTGTAAATCTGTTCTTTATTCACTA
ATGATCACTGCAAAAATGATTAGAAATGAGATTGTACACATGGATGAGGATATATTTTGCAAATCGACCAAACTTTCCTAATATTATGAT
CTTAAAATTCATAGAGTACTTTATTGCTTCCCAAGTTTGATAATCTTGTGGGTTTTTTTTTTTTTTTGATGCATGGGAGGTTGGCAATAT
AGACAAAGTGGAAATCATTAGTATGTGAGGGCCTTGATTGTTATGTAATATTGCCAATGATGAATTCAGGTTGTTTTTAGCACAAGTTTC

>11569_11569_1_C22orf34-MSL2_C22orf34_chr22_50051053_ENST00000400023_MSL2_chr3_135871580_ENST00000309993_length(amino acids)=528AA_BP=
MLQDPIAPTNSTCQHYVCKTCKGKKMMMKPSCSWCKDYEQFEENKQLSILVNCYKKLCEYITQTTLARDIIEAVDCSSDILALLNDGSLF
CEETEKPSDSSFTLCLTHSPLPSTSEPTTDPQASLSPMSESTLSIAIGSSVINGLPTYNGLSIDRFGINIPSPEHSNTIDVCNTVDIKTE
DLSDSLPPVCDTVATDLCSTGIDICSFSEDIKPGDSLLLSVEEVLRSLETVSNTEVCCPNLQPNLEATVSNGPFLQLSSQSLSHNVFMST
SPALHGLSCTAATPKIAKLNRKRSRSESDSEKVQPLPISTIIRGPTLGASAPVTVKRESKISLQPIATVPNGGTTPKISKTVLLSTKSMK
KSHEHGSKKSHSKTKPGILKKDKAVKEKIPSHHFMPGSPTKTVYKKPQEKKGCKCGRATQNPSVLTCRGQRCPCYSNRKACLDCICRGCQ

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

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Fusion Gene PPI Analysis for C22orf34-MSL2


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 C22orf34-MSL2


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 C22orf34-MSL2


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