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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:GUCD1-MB (FusionGDB2 ID:35332)

Fusion Gene Summary for GUCD1-MB

check button Fusion gene summary
Fusion gene informationFusion gene name: GUCD1-MB
Fusion gene ID: 35332
HgeneTgene
Gene symbol

GUCD1

MB

Gene ID

83606

4151

Gene nameguanylyl cyclase domain containing 1myoglobin
SynonymsC22orf13|LLN4PVALB|myoglobgin
Cytomap

22q11.23

22q12.3

Type of geneprotein-codingprotein-coding
Descriptionprotein GUCD1CG13760 gene product [Drosophila melanogaster] homologguanylyl cyclase domain-containing protein 1myoglobin
Modification date2020031320200313
UniProtAcc

Q96NT3

O43462

Ensembl transtripts involved in fusion geneENST00000402766, ENST00000407471, 
ENST00000435822, ENST00000447813, 
ENST00000404664, ENST00000490922, 
ENST00000472240, ENST00000359787, 
ENST00000397326, ENST00000401702, 
ENST00000406324, ENST00000397328, 
Fusion gene scores* DoF score6 X 7 X 5=2109 X 7 X 7=441
# samples 610
** MAII scorelog2(6/210*10)=-1.8073549220576
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(10/441*10)=-2.1407786557828
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: GUCD1 [Title/Abstract] AND MB [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointGUCD1(24950917)-MB(36003490), # 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

check buttonFusion gene breakpoints across GUCD1 (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 MB (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
ChimerDB4UVMTCGA-VD-A8KE-01AGUCD1chr22

24950917

-MBchr22

36003490

-


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Fusion Gene ORF analysis for GUCD1-MB

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-intronENST00000402766ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-
5CDS-intronENST00000407471ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-
5CDS-intronENST00000435822ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-
5CDS-intronENST00000447813ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000402766ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000402766ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000402766ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000402766ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000407471ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000407471ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000407471ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000407471ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000435822ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000435822ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000435822ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000435822ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000447813ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000447813ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000447813ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
Frame-shiftENST00000447813ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
In-frameENST00000402766ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
In-frameENST00000407471ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
In-frameENST00000435822ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
In-frameENST00000447813ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000404664ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000404664ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000404664ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000404664ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000404664ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000490922ENST00000359787GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000490922ENST00000397326GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000490922ENST00000397328GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000490922ENST00000401702GUCD1chr22

24950917

-MBchr22

36003490

-
intron-3CDSENST00000490922ENST00000406324GUCD1chr22

24950917

-MBchr22

36003490

-
intron-intronENST00000404664ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-
intron-intronENST00000490922ENST00000472240GUCD1chr22

24950917

-MBchr22

36003490

-

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)
ENST00000407471GUCD1chr2224950917-ENST00000397328MBchr2236003490-9142343522117
ENST00000435822GUCD1chr2224950917-ENST00000397328MBchr2236003490-10483689446145
ENST00000447813GUCD1chr2224950917-ENST00000397328MBchr2236003490-8211413629688
ENST00000402766GUCD1chr2224950917-ENST00000397328MBchr2236003490-857177295298

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
ENST00000407471ENST00000397328GUCD1chr2224950917-MBchr2236003490-0.546007160.4539928
ENST00000435822ENST00000397328GUCD1chr2224950917-MBchr2236003490-0.59508460.40491533
ENST00000447813ENST00000397328GUCD1chr2224950917-MBchr2236003490-0.577074470.42292556
ENST00000402766ENST00000397328GUCD1chr2224950917-MBchr2236003490-0.51015850.48984158

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Fusion Genomic Features for GUCD1-MB


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 GUCD1-MB


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/chr22:24950917/chr22:36003490)
- 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
GUCD1

Q96NT3

MB

O43462

FUNCTION: Zinc metalloprotease that mediates intramembrane proteolysis of proteins such as ATF6, ATF6B, SREBF1/SREBP1 and SREBF2/SREBP2 (PubMed:11163209, PubMed:10805775). Catalyzes the second step in the proteolytic activation of the sterol regulatory element-binding proteins (SREBPs) SREBF1/SREBP1 and SREBF2/SREBP2: cleaves SREBPs within the first transmembrane segment, thereby releasing the N-terminal segment with a portion of the transmembrane segment attached (PubMed:10805775, PubMed:27380894, PubMed:9659902). Mature N-terminal SREBP fragments shuttle to the nucleus and activate gene transcription (PubMed:10805775, PubMed:27380894, PubMed:9659902). Also mediates the second step in the proteolytic activation of the cyclic AMP-dependent transcription factor ATF-6 (ATF6 and ATF6B) (PubMed:11163209). Involved in intramembrane proteolysis during bone formation (PubMed:27380894). {ECO:0000269|PubMed:10805775, ECO:0000269|PubMed:11163209, ECO:0000269|PubMed:27380894, ECO:0000269|PubMed:9659902}.

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

- 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 GUCD1-MB


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.
>35332_35332_1_GUCD1-MB_GUCD1_chr22_24950917_ENST00000402766_MB_chr22_36003490_ENST00000397328_length(transcript)=857nt_BP=177nt
CGTTCTCTCCTCCGCAGCGGCGGCGGTGGCGGAGAAGGAACTCGACACGCACCGACCGCCCTCCCGCCCCAGCCGAAGCGGAAGCTGTAG
CCCGCTCTGGGCCGGGGCCATGGGCGCCCCGCGCCGCCCGGGTCATGAGGACGGAGGCGGAGGCAGCGGGGCCGCCGCTCGAGCCCGTTC
ATCTCGGAATGCATCATCCAGGTTCTGCAGAGCAAGCATCCCGGGGACTTTGGTGCTGATGCCCAGGGGGCCATGAACAAGGCCCTGGAG
CTGTTCCGGAAGGACATGGCCTCCAACTACAAGGAGCTGGGCTTCCAGGGCTAGGCCCCTGCCGCTCCCACCCCCACCCATCTGGGCCCC
GGGTTCAAGAGAGAGCGGGGTCTGATCTCGTGTAGCCATATAGAGTTTGCTTCTGAGTGTCTGCTTTGTTTAGTAGAGGTGGGCAGGAGG
AGCTGAGGGGCTGGGGCTGGGGTGTTGAAGTTGGCTTTGCATGCCCAGCGATGCGCCTCCCTGTGGGATGTCATCACCCTGGGAACCGGG
AGTGGCCCTTGGCTCACTGTGTTCTGCATGGTTTGGATCTGAATTAATTGTCCTTTCTTCTAAATCCCAACCGAACTTCTTCCAACCTCC
AAACTGGCTGTAACCCCAAATCCAAGCCATTAACTACACCTGACAGTAGCAATTGTCTGATTAATCACTGGCCCCTTGAAGACAGCAGAA
TGTCCCTTTGCAATGAGGAGGAGATCTGGGCTGGGCGGGCCAGCTGGGGAAGCATTTGACTATCTGGAACTTGTGTGTGCCTCCTCAGGT

>35332_35332_1_GUCD1-MB_GUCD1_chr22_24950917_ENST00000402766_MB_chr22_36003490_ENST00000397328_length(amino acids)=98AA_BP=1
MEAMSFRNSSRALFMAPWASAPKSPGCLLCRTWMMHSEMNGLERRPRCLRLRPHDPGGAGRPWPRPRAGYSFRFGWGGRAVGACRVPSPP

--------------------------------------------------------------
>35332_35332_2_GUCD1-MB_GUCD1_chr22_24950917_ENST00000407471_MB_chr22_36003490_ENST00000397328_length(transcript)=914nt_BP=234nt
AGATTCGAGACCTGGAAGGGCTGGGGCGGCGCTTGGGGCGGCCCAGCCGCCGCCTCCCGTTCTCTCCTCCGCAGCGGCGGCGGTGGCGGA
GAAGGAACTCGACACGCACCGACCGCCCTCCCGCCCCAGCCGAAGCGGAAGCTGTAGCCCGCTCTGGGCCGGGGCCATGGGCGCCCCGCG
CCGCCCGGGTCATGAGGACGGAGGCGGAGGCAGCGGGGCCGCCGCTCGAGCCCGTTCATCTCGGAATGCATCATCCAGGTTCTGCAGAGC
AAGCATCCCGGGGACTTTGGTGCTGATGCCCAGGGGGCCATGAACAAGGCCCTGGAGCTGTTCCGGAAGGACATGGCCTCCAACTACAAG
GAGCTGGGCTTCCAGGGCTAGGCCCCTGCCGCTCCCACCCCCACCCATCTGGGCCCCGGGTTCAAGAGAGAGCGGGGTCTGATCTCGTGT
AGCCATATAGAGTTTGCTTCTGAGTGTCTGCTTTGTTTAGTAGAGGTGGGCAGGAGGAGCTGAGGGGCTGGGGCTGGGGTGTTGAAGTTG
GCTTTGCATGCCCAGCGATGCGCCTCCCTGTGGGATGTCATCACCCTGGGAACCGGGAGTGGCCCTTGGCTCACTGTGTTCTGCATGGTT
TGGATCTGAATTAATTGTCCTTTCTTCTAAATCCCAACCGAACTTCTTCCAACCTCCAAACTGGCTGTAACCCCAAATCCAAGCCATTAA
CTACACCTGACAGTAGCAATTGTCTGATTAATCACTGGCCCCTTGAAGACAGCAGAATGTCCCTTTGCAATGAGGAGGAGATCTGGGCTG
GGCGGGCCAGCTGGGGAAGCATTTGACTATCTGGAACTTGTGTGTGCCTCCTCAGGTATGGCAGTGACTCACCTGGTTTTAATAAAACAA

>35332_35332_2_GUCD1-MB_GUCD1_chr22_24950917_ENST00000407471_MB_chr22_36003490_ENST00000397328_length(amino acids)=117AA_BP=1
MEAMSFRNSSRALFMAPWASAPKSPGCLLCRTWMMHSEMNGLERRPRCLRLRPHDPGGAGRPWPRPRAGYSFRFGWGGRAVGACRVPSPP

--------------------------------------------------------------
>35332_35332_3_GUCD1-MB_GUCD1_chr22_24950917_ENST00000435822_MB_chr22_36003490_ENST00000397328_length(transcript)=1048nt_BP=368nt
GCGCGAGGATTGGGCGAGAGGGTGGGGCCACTCAACGCTGAGGCGGCGAATGGCCGGAGCAGACTTAAATCAAGAGGCTGGGGACCTCTA
AGATCAAAGTTTGGGGCGGGGCCTAAGGAGGGGGCGGGGCCTCCAGATTCGAGACCTGGAAGGGCTGGGGCGGCGCTTGGGGCGGCCCAG
CCGCCGCCTCCCGTTCTCTCCTCCGCAGCGGCGGCGGTGGCGGAGAAGGAACTCGACACGCACCGACCGCCCTCCCGCCCCAGCCGAAGC
GGAAGCTGTAGCCCGCTCTGGGCCGGGGCCATGGGCGCCCCGCGCCGCCCGGGTCATGAGGACGGAGGCGGAGGCAGCGGGGCCGCCGCT
CGAGCCCGTTCATCTCGGAATGCATCATCCAGGTTCTGCAGAGCAAGCATCCCGGGGACTTTGGTGCTGATGCCCAGGGGGCCATGAACA
AGGCCCTGGAGCTGTTCCGGAAGGACATGGCCTCCAACTACAAGGAGCTGGGCTTCCAGGGCTAGGCCCCTGCCGCTCCCACCCCCACCC
ATCTGGGCCCCGGGTTCAAGAGAGAGCGGGGTCTGATCTCGTGTAGCCATATAGAGTTTGCTTCTGAGTGTCTGCTTTGTTTAGTAGAGG
TGGGCAGGAGGAGCTGAGGGGCTGGGGCTGGGGTGTTGAAGTTGGCTTTGCATGCCCAGCGATGCGCCTCCCTGTGGGATGTCATCACCC
TGGGAACCGGGAGTGGCCCTTGGCTCACTGTGTTCTGCATGGTTTGGATCTGAATTAATTGTCCTTTCTTCTAAATCCCAACCGAACTTC
TTCCAACCTCCAAACTGGCTGTAACCCCAAATCCAAGCCATTAACTACACCTGACAGTAGCAATTGTCTGATTAATCACTGGCCCCTTGA
AGACAGCAGAATGTCCCTTTGCAATGAGGAGGAGATCTGGGCTGGGCGGGCCAGCTGGGGAAGCATTTGACTATCTGGAACTTGTGTGTG

>35332_35332_3_GUCD1-MB_GUCD1_chr22_24950917_ENST00000435822_MB_chr22_36003490_ENST00000397328_length(amino acids)=145AA_BP=120
MGERVGPLNAEAANGRSRLKSRGWGPLRSKFGAGPKEGAGPPDSRPGRAGAALGAAQPPPPVLSSAAAAVAEKELDTHRPPSRPSRSGSC

--------------------------------------------------------------
>35332_35332_4_GUCD1-MB_GUCD1_chr22_24950917_ENST00000447813_MB_chr22_36003490_ENST00000397328_length(transcript)=821nt_BP=141nt
GGAACTCGACACGCACCGACCGCCCTCCCGCCCCAGCCGAAGCGGAAGCTGTAGCCCGCTCTGGGCCGGGGCCATGGGCGCCCCGCGCCG
CCCGGGTCATGAGGACGGAGGCGGAGGCAGCGGGGCCGCCGCTCGAGCCCGTTCATCTCGGAATGCATCATCCAGGTTCTGCAGAGCAAG
CATCCCGGGGACTTTGGTGCTGATGCCCAGGGGGCCATGAACAAGGCCCTGGAGCTGTTCCGGAAGGACATGGCCTCCAACTACAAGGAG
CTGGGCTTCCAGGGCTAGGCCCCTGCCGCTCCCACCCCCACCCATCTGGGCCCCGGGTTCAAGAGAGAGCGGGGTCTGATCTCGTGTAGC
CATATAGAGTTTGCTTCTGAGTGTCTGCTTTGTTTAGTAGAGGTGGGCAGGAGGAGCTGAGGGGCTGGGGCTGGGGTGTTGAAGTTGGCT
TTGCATGCCCAGCGATGCGCCTCCCTGTGGGATGTCATCACCCTGGGAACCGGGAGTGGCCCTTGGCTCACTGTGTTCTGCATGGTTTGG
ATCTGAATTAATTGTCCTTTCTTCTAAATCCCAACCGAACTTCTTCCAACCTCCAAACTGGCTGTAACCCCAAATCCAAGCCATTAACTA
CACCTGACAGTAGCAATTGTCTGATTAATCACTGGCCCCTTGAAGACAGCAGAATGTCCCTTTGCAATGAGGAGGAGATCTGGGCTGGGC
GGGCCAGCTGGGGAAGCATTTGACTATCTGGAACTTGTGTGTGCCTCCTCAGGTATGGCAGTGACTCACCTGGTTTTAATAAAACAACCT

>35332_35332_4_GUCD1-MB_GUCD1_chr22_24950917_ENST00000447813_MB_chr22_36003490_ENST00000397328_length(amino acids)=88AA_BP=0

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

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Fusion Gene PPI Analysis for GUCD1-MB


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 GUCD1-MB


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 GUCD1-MB


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