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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:MUC13-UMPS (FusionGDB2 ID:55661)

Fusion Gene Summary for MUC13-UMPS

check button Fusion gene summary
Fusion gene informationFusion gene name: MUC13-UMPS
Fusion gene ID: 55661
HgeneTgene
Gene symbol

MUC13

UMPS

Gene ID

56667

7372

Gene namemucin 13, cell surface associateduridine monophosphate synthetase
SynonymsDRCC1|MUC-13OPRT
Cytomap

3q21.2

3q21.2

Type of geneprotein-codingprotein-coding
Descriptionmucin-13down-regulated in colon cancer 1mucin 13, epithelial transmembraneuridine 5'-monophosphate synthaseOMPdecaseOPRTaseUMP synthaseorotate phosphoribosyltransferaseorotidine 5'-phosphate decarboxylase
Modification date2020032220200313
UniProtAcc

Q9H3R2

.
Ensembl transtripts involved in fusion geneENST00000311075, ENST00000497378, 
ENST00000232607, ENST00000413078, 
ENST00000538242, ENST00000536109, 
ENST00000498715, 
Fusion gene scores* DoF score6 X 6 X 3=1085 X 3 X 4=60
# samples 65
** MAII scorelog2(6/108*10)=-0.84799690655495
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(5/60*10)=-0.263034405833794
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: MUC13 [Title/Abstract] AND UMPS [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointMUC13(124642373)-UMPS(124456414), # 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
TgeneUMPS

GO:0006222

UMP biosynthetic process

6893554|11730338


check buttonFusion gene breakpoints across MUC13 (5'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

check buttonFusion gene breakpoints across UMPS (3'-gene)
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

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
ChimerDB4STADTCGA-CD-8532MUC13chr3

124642373

-UMPSchr3

124456414

+


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Fusion Gene ORF analysis for MUC13-UMPS

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
In-frameENST00000311075ENST00000232607MUC13chr3

124642373

-UMPSchr3

124456414

+
5CDS-5UTRENST00000311075ENST00000413078MUC13chr3

124642373

-UMPSchr3

124456414

+
5CDS-5UTRENST00000311075ENST00000538242MUC13chr3

124642373

-UMPSchr3

124456414

+
5CDS-5UTRENST00000311075ENST00000536109MUC13chr3

124642373

-UMPSchr3

124456414

+
5CDS-3UTRENST00000311075ENST00000498715MUC13chr3

124642373

-UMPSchr3

124456414

+
intron-3CDSENST00000497378ENST00000232607MUC13chr3

124642373

-UMPSchr3

124456414

+
intron-5UTRENST00000497378ENST00000413078MUC13chr3

124642373

-UMPSchr3

124456414

+
intron-5UTRENST00000497378ENST00000538242MUC13chr3

124642373

-UMPSchr3

124456414

+
intron-5UTRENST00000497378ENST00000536109MUC13chr3

124642373

-UMPSchr3

124456414

+
intron-3UTRENST00000497378ENST00000498715MUC13chr3

124642373

-UMPSchr3

124456414

+

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)
ENST00000311075MUC13chr3124642373-ENST00000232607UMPSchr3124456414+2915673391805588

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
ENST00000311075ENST00000232607MUC13chr3124642373-UMPSchr3124456414+0.0006709620.9993291

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Fusion Genomic Features for MUC13-UMPS


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.

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 MUC13-UMPS


check button Go to

FGviewer for the breakpoints of chr3:124642373-chr3:124456414

.
- FGviewer provides the online visualization of the retention search of the protein functional features across DNA, RNA, protein, and pathological levels.
FGviewer

check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
MUC13

Q9H3R2

.
FUNCTION: Epithelial and hemopoietic transmembrane mucin that may play a role in cell signaling.FUNCTION: Might normally function as a transcriptional repressor. EWS-fusion-proteins (EFPS) may play a role in the tumorigenic process. They may disturb gene expression by mimicking, or interfering with the normal function of CTD-POLII within the transcription initiation complex. They may also contribute to an aberrant activation of the fusion protein target genes.

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
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-31229_171211.33333333333334829.6666666666666Compositional biasNote=Thr-rich
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312173_211211.33333333333334829.6666666666666DomainEGF-like 1
TgeneUMPSchr3:124642373chr3:124456414ENST0000023260716215_220103.33333333333333481.0RegionNote=Domain linker
TgeneUMPSchr3:124642373chr3:124456414ENST0000023260716221_480103.33333333333333481.0RegionNote=OMPdecase
TgeneUMPSchr3:124642373chr3:124456414ENST0000041307803215_2200206.0RegionNote=Domain linker
TgeneUMPSchr3:124642373chr3:124456414ENST0000041307803221_4800206.0RegionNote=OMPdecase
TgeneUMPSchr3:124642373chr3:124456414ENST00000413078032_2140206.0RegionNote=OPRTase
TgeneUMPSchr3:124642373chr3:124456414ENST0000053610927215_22011.333333333333334389.0RegionNote=Domain linker
TgeneUMPSchr3:124642373chr3:124456414ENST0000053610927221_48011.333333333333334389.0RegionNote=OMPdecase
TgeneUMPSchr3:124642373chr3:124456414ENST0000053824205215_2200303.0RegionNote=Domain linker
TgeneUMPSchr3:124642373chr3:124456414ENST0000053824205221_4800303.0RegionNote=OMPdecase
TgeneUMPSchr3:124642373chr3:124456414ENST00000538242052_2140303.0RegionNote=OPRTase

- In-frame and not-retained protein feature among the 13 regional features.
PartnerGeneHbpTbpENSTStrandBPexonTotalExonProtein feature loci*BPlociTotalLenProtein featureProtein feature note
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312212_336211.33333333333334829.6666666666666DomainSEA
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312322_361211.33333333333334829.6666666666666DomainEGF-like 2
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312363_404211.33333333333334829.6666666666666DomainEGF-like 3
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-31219_421211.33333333333334829.6666666666666Topological domainExtracellular
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312443_512211.33333333333334829.6666666666666Topological domainCytoplasmic
HgeneMUC13chr3:124642373chr3:124456414ENST00000311075-312422_442211.33333333333334829.6666666666666TransmembraneHelical
TgeneUMPSchr3:124642373chr3:124456414ENST00000232607162_214103.33333333333333481.0RegionNote=OPRTase
TgeneUMPSchr3:124642373chr3:124456414ENST00000536109272_21411.333333333333334389.0RegionNote=OPRTase


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Fusion Gene Sequence for MUC13-UMPS


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.
>In-frame_ENST00000311075_ENST00000232607_TCGA-CD-8532_MUC13_chr3_124642373_-_UMPS_chr3_124456414_length(transcript)=2915nt_BP=673nt
ATCATTTCCTCCTCAGATTACCAAGCAAGAACAGCTAAAATGAAAGCCATCATTCATCTTACTCTTCTTGCTCTCCTTTCTGTAAACACA
GCCACCAACCAAGGCAACTCAGCTGATGCTGTAACAACCACAGAAACTGCGACTAGTGGTCCTACAGTAGCTGCAGCTGATACCACTGAA
ACTAATTTCCCTGAAACTGCTAGCACCACAGCAAATACACCTTTCCCAACAGCTACTTCACCTGCTCCCCCCATAATTAGTACACATAGT
TCCTCCACAATTCCTACACCTGCTCCCCCCATAATTAGTACACATAGTTCCTCCACAATTCCTATACCTACTGCTGCAGACAGTGAGTCA
ACCACAAATGTAAATTCATTAGCTACCTCTGACATAATCACCGCTTCATCTCCAAATGATGGATTAATCACAATGGTTCCTTCTGAAACA
CAAAGTAACAATGAAATGTCCCCCACCACAGAAGACAATCAATCATCAGGGCCTCCCACTGGCACCGCTTTATTGGAGACCAGCACCCTA
AACAGCACAGGTCCCAGCAATCCTTGCCAAGATGATCCCTGTGCAGATAATTCGTTATGTGTTAAGCTGCATAATACAAGTTTTTGCCTG
TGTTTAGAAGGGTATTACTACAACTCTTCTACATGTAAGAAAGGAACTAAGCGTCTTGTAGAAGGAACTATTAATCCAGGAGAAACCTGT
TTAATCATTGAAGATGTTGTCACCAGTGGATCTAGTGTTTTGGAAACTGTTGAGGTTCTTCAGAAGGAGGGCTTGAAGGTCACTGATGCC
ATAGTGCTGTTGGACAGAGAGCAGGGAGGCAAGGACAAGTTGCAGGCGCACGGGATCCGCCTCCACTCAGTGTGTACATTGTCCAAAATG
CTGGAGATTCTCGAGCAGCAGAAAAAAGTTGATGCTGAGACAGTTGGGAGAGTGAAGAGGTTTATTCAGGAGAATGTCTTTGTGGCAGCG
AATCATAATGGTTCTCCCCTTTCTATAAAGGAAGCACCCAAAGAACTCAGCTTCGGTGCACGTGCAGAGCTGCCCAGGATCCACCCAGTT
GCATCGAAGCTTCTCAGGCTTATGCAAAAGAAGGAGACCAATCTGTGTCTATCTGCTGATGTTTCACTGGCCAGAGAGCTGTTGCAGCTA
GCAGATGCTTTAGGACCTAGTATCTGCATGCTGAAGACTCATGTAGATATTTTGAATGATTTTACTCTGGATGTGATGAAGGAGTTGATA
ACTCTGGCAAAATGCCATGAGTTCTTGATATTTGAAGACCGGAAGTTTGCAGATATAGGAAACACAGTGAAAAAGCAGTATGAAGGAGGT
ATCTTTAAAATAGCTTCCTGGGCAGATCTAGTAAATGCTCACGTGGTGCCAGGCTCAGGAGTTGTGAAAGGCCTGCAAGAAGTGGGCCTG
CCTTTGCATCGGGGGTGCCTCCTTATTGCGGAAATGAGCTCCACCGGCTCCCTGGCCACTGGGGACTACACTAGAGCAGCGGTTAGAATG
GCTGAGGAGCACTCTGAATTTGTTGTTGGTTTTATTTCTGGCTCCCGAGTAAGCATGAAACCAGAATTTCTTCACTTGACTCCAGGAGTT
CAGTTGGAAGCAGGAGGAGATAATCTTGGCCAACAGTACAATAGCCCACAAGAAGTTATTGGCAAACGAGGTTCCGATATCATCATTGTA
GGTCGTGGCATAATCTCAGCAGCTGATCGTCTGGAAGCAGCAGAGATGTACAGAAAAGCTGCTTGGGAAGCGTATTTGAGTAGACTTGGT
GTTTGAGTGCTTCAGATACATTTTTCAGATACAATGTGAAGACATTGAAGATATGTGGTCCTCCTGAAAGTCACTGGCTGGAAATAATCC
AATTATTCCTGCTTGGATTCTTCCACAGGGCCTGTGTAAGAATGGGTTCTGGAGTTCTCATGGTCTTTAGGAAATATTGAGTAATTTGTA
ATCACCGCATTGATACTATAATAAGTTCATTCTTAAGCTTGCTTTTTTTGAGACTGGTGTTTGTTAGACAGCCACAGTCCTGTCTGGGTT
AGGGTCTTCCACATTTGAGGATCCTTCCTATCTCTCCATGGGACTAGACTGCTTTGTTATTCTATTTATTTTTTAATTTTTTTCGAGACA
GGATCTCACTCTGTTGCCCAGGATGGAGTGCAGTGGTGAGATCACGGCTCATTGCAGCCTCGACCTCCCAGGTGATCCTCCCACCTCAGC
TTCCAGATTAGCTGGTGCTATAGGCATGCACCACCACGTCCATCTAAATTTCTTTATTATTTGTAGAGATGAGGTCTTGCCATGTTACCC
AGGCTGGTCTCAACTCCTGGGCTCAAGCGATCCTCCTGCCTCAGTCTCTCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCC
TAATTGCAGTAAGACAAAAATTCTAGGGCACCAAGAGGCTAAAGTCAGCACAGCTTTTCTTGTGTCCTGTATTCTCTGTCTAATGTGTTG
CCCAAATAATACCTAATTGTTAGCCATTCCCCTCCATCTCTGGCCTAAAAGTGATAGTCCAGGTATCCACATGGGCTGGTTCCCAGAACT
GCCATTGCTCACTCTCCAAAGAGGGGAAGGTGGGGAAGGGGAAGGTGACTATAGCTCAGCTCCTGAGCTAGTATCTGGCTGTTATTTCAA
CAACCGGAGTTGGGGTTTGGGCTCATTTTTTCCCCTAGCCAGCAATTATGGACCAGTAGTAACACAAGTGACAGCTTCCTGTGACTGACT
TCACAATTAGGAGGTCTAAGATTCCATTTGGGTATTTGCTTAAGGATCCCACATAATTGTCCCAACGGTCATTAGTAGAGGGGAGGTAAG

>In-frame_ENST00000311075_ENST00000232607_TCGA-CD-8532_MUC13_chr3_124642373_-_UMPS_chr3_124456414_length(amino acids)=588AA_start in transcript=39_stop in transcript=1805
MKAIIHLTLLALLSVNTATNQGNSADAVTTTETATSGPTVAAADTTETNFPETASTTANTPFPTATSPAPPIISTHSSSTIPTPAPPIIS
THSSSTIPIPTAADSESTTNVNSLATSDIITASSPNDGLITMVPSETQSNNEMSPTTEDNQSSGPPTGTALLETSTLNSTGPSNPCQDDP
CADNSLCVKLHNTSFCLCLEGYYYNSSTCKKGTKRLVEGTINPGETCLIIEDVVTSGSSVLETVEVLQKEGLKVTDAIVLLDREQGGKDK
LQAHGIRLHSVCTLSKMLEILEQQKKVDAETVGRVKRFIQENVFVAANHNGSPLSIKEAPKELSFGARAELPRIHPVASKLLRLMQKKET
NLCLSADVSLARELLQLADALGPSICMLKTHVDILNDFTLDVMKELITLAKCHEFLIFEDRKFADIGNTVKKQYEGGIFKIASWADLVNA
HVVPGSGVVKGLQEVGLPLHRGCLLIAEMSSTGSLATGDYTRAAVRMAEEHSEFVVGFISGSRVSMKPEFLHLTPGVQLEAGGDNLGQQY

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

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Fusion Gene PPI Analysis for MUC13-UMPS


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 MUC13-UMPS


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 MUC13-UMPS


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgeneUMPSC0024623Malignant neoplasm of stomach3CTD_human
TgeneUMPSC0038356Stomach Neoplasms3CTD_human
TgeneUMPSC0268130Hereditary orotic aciduria, type 13CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
TgeneUMPSC1708349Hereditary Diffuse Gastric Cancer3CTD_human
TgeneUMPSC0006142Malignant neoplasm of breast2CTD_human
TgeneUMPSC0009402Colorectal Carcinoma2CTD_human
TgeneUMPSC0009404Colorectal Neoplasms2CTD_human
TgeneUMPSC0033578Prostatic Neoplasms2CTD_human
TgeneUMPSC0220987Hereditary orotic aciduria2ORPHANET
TgeneUMPSC0376358Malignant neoplasm of prostate2CTD_human
TgeneUMPSC0678222Breast Carcinoma2CTD_human
TgeneUMPSC1257931Mammary Neoplasms, Human2CTD_human
TgeneUMPSC1458155Mammary Neoplasms2CTD_human
TgeneUMPSC3714756Intellectual Disability2GENOMICS_ENGLAND
TgeneUMPSC4704874Mammary Carcinoma, Human2CTD_human
TgeneUMPSC0002875Cooley's anemia1CTD_human
TgeneUMPSC0002895Anemia, Sickle Cell1CTD_human
TgeneUMPSC0005283beta Thalassemia1CTD_human
TgeneUMPSC0007102Malignant tumor of colon1CTD_human
TgeneUMPSC0007137Squamous cell carcinoma1CTD_human
TgeneUMPSC0009375Colonic Neoplasms1CTD_human
TgeneUMPSC0019025Hemoglobin F Disease1CTD_human
TgeneUMPSC0023440Acute Erythroblastic Leukemia1CTD_human
TgeneUMPSC0026640Mouth Neoplasms1CTD_human
TgeneUMPSC0037889Hereditary spherocytosis1CTD_human
TgeneUMPSC0085578Thalassemia Minor1CTD_human
TgeneUMPSC0153381Malignant neoplasm of mouth1CTD_human
TgeneUMPSC0268128Orotic aciduria1GENOMICS_ENGLAND
TgeneUMPSC0271979Thalassemia Intermedia1CTD_human
TgeneUMPSC0949116Congenital hypoplastic anemia1CTD_human
TgeneUMPSC2239176Liver carcinoma1CTD_human