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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:GMDS-METTL24 (FusionGDB2 ID:33465)

Fusion Gene Summary for GMDS-METTL24

check button Fusion gene summary
Fusion gene informationFusion gene name: GMDS-METTL24
Fusion gene ID: 33465
HgeneTgene
Gene symbol

GMDS

METTL24

Gene ID

2762

728464

Gene nameGDP-mannose 4,6-dehydratasemethyltransferase like 24
SynonymsGMD|SDR3E1C6orf186
Cytomap

6p25.3

6q21

Type of geneprotein-codingprotein-coding
DescriptionGDP-mannose 4,6 dehydrataseGDP-D-mannose dehydrataseshort chain dehydrogenase/reductase family 3E, member 1methyltransferase-like protein 24UPF0624 protein C6orf186
Modification date2020031320200313
UniProtAcc.

Q5JXM2

Ensembl transtripts involved in fusion geneENST00000380815, ENST00000530927, 
ENST00000467288, 
ENST00000490043, 
ENST00000338882, 
Fusion gene scores* DoF score28 X 19 X 15=79805 X 4 X 5=100
# samples 325
** MAII scorelog2(32/7980*10)=-4.64024493622235
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GMDS [Title/Abstract] AND METTL24 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGMDS(1930337)-METTL24(110644075), # samples:2
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
HgeneGMDS

GO:0019673

GDP-mannose metabolic process

9525924

HgeneGMDS

GO:0042351

'de novo' GDP-L-fucose biosynthetic process

9525924


check buttonFusion gene breakpoints across GMDS (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 METTL24 (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
ChimerDB4BRCATCGA-B6-A0I1-01AGMDSchr6

1930337

-METTL24chr6

110644075

-


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Fusion Gene ORF analysis for GMDS-METTL24

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-5UTRENST00000380815ENST00000490043GMDSchr6

1930337

-METTL24chr6

110644075

-
5CDS-5UTRENST00000530927ENST00000490043GMDSchr6

1930337

-METTL24chr6

110644075

-
In-frameENST00000380815ENST00000338882GMDSchr6

1930337

-METTL24chr6

110644075

-
In-frameENST00000530927ENST00000338882GMDSchr6

1930337

-METTL24chr6

110644075

-
intron-3CDSENST00000467288ENST00000338882GMDSchr6

1930337

-METTL24chr6

110644075

-
intron-5UTRENST00000467288ENST00000490043GMDSchr6

1930337

-METTL24chr6

110644075

-

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)
ENST00000530927GMDSchr61930337-ENST00000338882METTL24chr6110644075-1530729481511487
ENST00000380815GMDSchr61930337-ENST00000338882METTL24chr6110644075-18421041421823593

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
ENST00000530927ENST00000338882GMDSchr61930337-METTL24chr6110644075-0.0029140650.997086
ENST00000380815ENST00000338882GMDSchr61930337-METTL24chr6110644075-0.0036884980.9963115

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Fusion Genomic Features for GMDS-METTL24


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

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.

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Fusion Protein Features for GMDS-METTL24


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/chr6:1930337/chr6:110644075)
- 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
.METTL24

Q5JXM2

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
HgeneGMDSchr6:1930337chr6:110644075ENST00000380815-711108_112257373.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000380815-71130_35257373.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000380815-71155_58257373.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000380815-71186_87257373.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000530927-711108_112227343.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000530927-71130_35227343.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000530927-71155_58227343.0Nucleotide bindingNADP
HgeneGMDSchr6:1930337chr6:110644075ENST00000530927-71186_87227343.0Nucleotide bindingNADP

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note


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Fusion Gene Sequence for GMDS-METTL24


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.
>33465_33465_1_GMDS-METTL24_GMDS_chr6_1930337_ENST00000380815_METTL24_chr6_110644075_ENST00000338882_length(transcript)=1842nt_BP=1041nt
GACGCGAATGACGCTGCGCCAGTCAGGCCGCAGCCCCGCTGCTTGGCCCGTCGGGCCCGCCTTGGCCGGCTCGGCCCGCCCCCGGCCCTC
CCTGCACGGCCTCCCGTGCGCCCCTGTCAGACTGTGGCGGCCGGTCGCGCGGTGCGCTCTCCCTCCCTGCCCGCAGCCTGGAGAGGCGCT
TCGTGCTGCACACCCCCGCGTTCCTGCCGGCACCGCGCCTGCCCTCTGCCGCGCTCCGCCCTGCCGCCGACCGCACGCCCGCCGCGGGAC
ATGGCACACGCACCGGCACGCTGCCCCAGCGCCCGGGGCTCCGGGGACGGCGAGATGGGCAAGCCCAGGAACGTGGCGCTCATCACCGGT
ATCACAGGCCAGGATGGTTCCTACCTGGCTGAGTTCCTGCTGGAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTT
AATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCTCACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGT
ACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAGATCTACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTC
GCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGACTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTC
TACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAAATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGG
GCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGTGAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAG
AGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGCCGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTG
GGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGACTATGTGGAGGGTCCCCGGTGGCATATAGATCTCCAGCCTTGGGCAGGC
TCTGCTCAGTCCCTGGATGAAGAAGCCTGGAGGTTCCTGAGATATATCAGCACCACCCAGATTGCATGCAATCACATGAATACAGACAGC
CTGGCTACTGACTCTAGTCCTACACACAAGCCCTGGTCAGTGTGTCTTGACGACAGGTTCAATTTAGCTCATCAAATCCGCAACAAGCAG
TGCCGCCTCTACTCCTTAGGGCTAGGAAGTGATGATACCCATTTTGAGGTTAGCATGGCCAACAACGGATGTGAAGTGCATCGTTTTGAT
CCTAGTGTCAAGTCAGCTCACATTCTGGAGAGTCAGCACCTTTGGTATCACCGCTTGTCCATTGACTGGCGGGATCCCCATCCAGCTGTT
GCTGCCCAAAAACCACATAGCAACACCAGAAAACTGGGAAGCATTTTGAATGAATTTGGACATCACAAGATTGACGTTCTCAAGGCAGAT
CTGGAAAGTGCAGAATGGAAAGTTTTGGAAAATCTTATTCTGGAAGATGTTCTTGAGCAGATTGGACAGCTCATCTTTGAGATCCATCTC
CACTGGCCTGGGTTTGAGGTCAGTGGCAGTGACAGCAGCGTTGTGCGGTTCTGGTACAGCCTTCTCAAAGAGTTAGAACAAAAGGATTTC
AGGCTTTTTCACAGTTACAAAGACTTATCTAAACCTCAGCTATTCTTGAAGAAAGACATTTTCAATGCAAGTAGCTGTTATACTCTGAGT

>33465_33465_1_GMDS-METTL24_GMDS_chr6_1930337_ENST00000380815_METTL24_chr6_110644075_ENST00000338882_length(amino acids)=593AA_BP=333
MARRARLGRLGPPPALPARPPVRPCQTVAAGRAVRSPSLPAAWRGASCCTPPRSCRHRACPLPRSALPPTARPPRDMAHAPARCPSARGS
GDGEMGKPRNVALITGITGQDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTE
IYNLGAQSHVKISFDLAEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFR
EAYNLFAVNGILFNHESPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEGPRWHIDLQPWAGSAQSLDEEAWRFLR
YISTTQIACNHMNTDSLATDSSPTHKPWSVCLDDRFNLAHQIRNKQCRLYSLGLGSDDTHFEVSMANNGCEVHRFDPSVKSAHILESQHL
WYHRLSIDWRDPHPAVAAQKPHSNTRKLGSILNEFGHHKIDVLKADLESAEWKVLENLILEDVLEQIGQLIFEIHLHWPGFEVSGSDSSV

--------------------------------------------------------------
>33465_33465_2_GMDS-METTL24_GMDS_chr6_1930337_ENST00000530927_METTL24_chr6_110644075_ENST00000338882_length(transcript)=1530nt_BP=729nt
TGTACACAGGCAGTTTGTTGGGAGCGTTACCATTGCCTCTGGTTCCTCATGTGTAAAATGGATGGTTCCTACCTGGCTGAGTTCCTGCTG
GAGAAAGGCTATGAGGTCCATGGAATTGTACGGCGGTCCAGTTCATTTAATACGGGTCGAATTGAGCATCTGTATAAGAATCCCCAGGCT
CACATTGAAGGAAACATGAAGTTGCACTATGGCGATCTCACTGACAGTACCTGCCTTGTGAAGATCATTAATGAAGTAAAGCCCACAGAG
ATCTACAACCTTGGAGCCCAGAGCCACGTCAAAATTTCCTTTGACCTCGCTGAGTACACTGCGGACGTTGACGGAGTTGGCACTCTACGA
CTTCTAGATGCAGTTAAGACTTGTGGCCTTATCAACTCTGTGAAGTTCTACCAAGCCTCAACAAGTGAACTTTATGGGAAAGTGCAGGAA
ATACCCCAGAAGGAGACCACCCCTTTCTATCCCCGGTCACCCTATGGGGCAGCAAAACTCTATGCCTATTGGATTGTGGTGAACTTCCGT
GAGGCGTATAATCTCTTTGCAGTGAACGGCATTCTCTTCAATCATGAGAGTCCCAGAAGAGGAGCTAATTTCGTTACTCGAAAAATTAGC
CGGTCAGTAGCTAAGATTTACCTTGGACAACTGGAATGTTTCAGTTTGGGAAATCTGGATGCCAAACGAGATTGGGGCCATGCCAAGGAC
TATGTGGAGGGTCCCCGGTGGCATATAGATCTCCAGCCTTGGGCAGGCTCTGCTCAGTCCCTGGATGAAGAAGCCTGGAGGTTCCTGAGA
TATATCAGCACCACCCAGATTGCATGCAATCACATGAATACAGACAGCCTGGCTACTGACTCTAGTCCTACACACAAGCCCTGGTCAGTG
TGTCTTGACGACAGGTTCAATTTAGCTCATCAAATCCGCAACAAGCAGTGCCGCCTCTACTCCTTAGGGCTAGGAAGTGATGATACCCAT
TTTGAGGTTAGCATGGCCAACAACGGATGTGAAGTGCATCGTTTTGATCCTAGTGTCAAGTCAGCTCACATTCTGGAGAGTCAGCACCTT
TGGTATCACCGCTTGTCCATTGACTGGCGGGATCCCCATCCAGCTGTTGCTGCCCAAAAACCACATAGCAACACCAGAAAACTGGGAAGC
ATTTTGAATGAATTTGGACATCACAAGATTGACGTTCTCAAGGCAGATCTGGAAAGTGCAGAATGGAAAGTTTTGGAAAATCTTATTCTG
GAAGATGTTCTTGAGCAGATTGGACAGCTCATCTTTGAGATCCATCTCCACTGGCCTGGGTTTGAGGTCAGTGGCAGTGACAGCAGCGTT
GTGCGGTTCTGGTACAGCCTTCTCAAAGAGTTAGAACAAAAGGATTTCAGGCTTTTTCACAGTTACAAAGACTTATCTAAACCTCAGCTA
TTCTTGAAGAAAGACATTTTCAATGCAAGTAGCTGTTATACTCTGAGTTGGGTGAATACAAGATGGAAATAGGATGCAGGATGTCATCAA

>33465_33465_2_GMDS-METTL24_GMDS_chr6_1930337_ENST00000530927_METTL24_chr6_110644075_ENST00000338882_length(amino acids)=487AA_BP=227
MCKMDGSYLAEFLLEKGYEVHGIVRRSSSFNTGRIEHLYKNPQAHIEGNMKLHYGDLTDSTCLVKIINEVKPTEIYNLGAQSHVKISFDL
AEYTADVDGVGTLRLLDAVKTCGLINSVKFYQASTSELYGKVQEIPQKETTPFYPRSPYGAAKLYAYWIVVNFREAYNLFAVNGILFNHE
SPRRGANFVTRKISRSVAKIYLGQLECFSLGNLDAKRDWGHAKDYVEGPRWHIDLQPWAGSAQSLDEEAWRFLRYISTTQIACNHMNTDS
LATDSSPTHKPWSVCLDDRFNLAHQIRNKQCRLYSLGLGSDDTHFEVSMANNGCEVHRFDPSVKSAHILESQHLWYHRLSIDWRDPHPAV
AAQKPHSNTRKLGSILNEFGHHKIDVLKADLESAEWKVLENLILEDVLEQIGQLIFEIHLHWPGFEVSGSDSSVVRFWYSLLKELEQKDF

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Fusion Gene PPI Analysis for GMDS-METTL24


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 GMDS-METTL24


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 GMDS-METTL24


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