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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:POMT1-NUP214 (FusionGDB2 ID:66741)

Fusion Gene Summary for POMT1-NUP214

check button Fusion gene summary
Fusion gene informationFusion gene name: POMT1-NUP214
Fusion gene ID: 66741
HgeneTgene
Gene symbol

POMT1

NUP214

Gene ID

10585

8021

Gene nameprotein O-mannosyltransferase 1nucleoporin 214
SynonymsLGMD2K|LGMDR11|MDDGA1|MDDGB1|MDDGC1|RTCAIN|CAN|IIAE9
Cytomap

9q34.13

9q34.13

Type of geneprotein-codingprotein-coding
Descriptionprotein O-mannosyl-transferase 1dolichyl-phosphate-mannose--protein mannosyltransferase 1testis tissue sperm-binding protein Li 57ptruncated O-mannosyl-transferase 1 variant SV3DELnuclear pore complex protein Nup214CAN protein, putative oncogenenucleoporin 214kDa
Modification date2020032820200322
UniProtAcc.

P35658

Ensembl transtripts involved in fusion geneENST00000423007, ENST00000404875, 
ENST00000341012, ENST00000372228, 
ENST00000419118, ENST00000402686, 
ENST00000541219, ENST00000354713, 
ENST00000485278, 		ENST00000359428, 
ENST00000411637, ENST00000451030, 
ENST00000483497, ENST00000465486, 
Fusion gene scores* DoF score5 X 4 X 5=10019 X 26 X 11=5434
# samples 529
** MAII scorelog2(5/100*10)=-1
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0		log2(29/5434*10)=-4.22788976020704
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: POMT1 [Title/Abstract] AND NUP214 [Title/Abstract] AND fusion [Title/Abstract]

Most frequent breakpointPOMT1(134378460)-NUP214(134090599), # samples:3
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 POMT1 (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 NUP214 (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
ChimerDB4LUADTCGA-50-5941-01APOMT1chr9

134378460

+NUP214chr9

134090599

+
ChimerDB4LUADTCGA-50-5941-01APOMT1chr9

134378460

+NUP214chr9

134090599

+
ChimerDB4LUADTCGA-50-5941-01APOMT1chr9

134378460

-NUP214chr9

134090599

+


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Fusion Gene ORF analysis for POMT1-NUP214

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
5UTR-3CDSENST00000423007ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000423007ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000423007ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000423007ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000423007ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000404875ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000404875ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000404875ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000404875ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000404875ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000341012ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000341012ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000341012ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000341012ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000341012ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000372228ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000372228ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000372228ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000372228ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000372228ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000419118ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000419118ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000419118ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000419118ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000419118ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000402686ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000402686ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000402686ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000402686ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000402686ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000541219ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000541219ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000541219ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000541219ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000541219ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000354713ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000354713ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000354713ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-3CDSENST00000354713ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
5UTR-intronENST00000354713ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+
intron-3CDSENST00000485278ENST00000359428POMT1chr9

134378460

+NUP214chr9

134090599

+
intron-3CDSENST00000485278ENST00000411637POMT1chr9

134378460

+NUP214chr9

134090599

+
intron-3CDSENST00000485278ENST00000451030POMT1chr9

134378460

+NUP214chr9

134090599

+
intron-3CDSENST00000485278ENST00000483497POMT1chr9

134378460

+NUP214chr9

134090599

+
intron-intronENST00000485278ENST00000465486POMT1chr9

134378460

+NUP214chr9

134090599

+

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)

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

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Fusion Genomic Features for POMT1-NUP214


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)
POMT1chr9134378460+NUP214chr9134090598+0.0001201280.99987984
POMT1chr9134378460+NUP214chr9134090598+0.0001201280.99987984

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 POMT1-NUP214


check button Go to

FGviewer for the breakpoints of :-:

.
- 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
.NUP214

P35658

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.FUNCTION: Part of the nuclear pore complex (PubMed:9049309). Has a critical role in nucleocytoplasmic transport (PubMed:31178128). May serve as a docking site in the receptor-mediated import of substrates across the nuclear pore complex (PubMed:31178128, PubMed:8108440). {ECO:0000269|PubMed:31178128, ECO:0000269|PubMed:9049309, ECO:0000303|PubMed:8108440}.; FUNCTION: (Microbial infection) Required for capsid disassembly of the human adenovirus 5 (HadV-5) leading to release of the viral genome to the nucleus (in vitro). {ECO:0000269|PubMed:25410864}.

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 POMT1-NUP214


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.

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Fusion Gene PPI Analysis for POMT1-NUP214


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 POMT1-NUP214


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 POMT1-NUP214


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOMT1C4284790Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies) Type A, 18CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePOMT1C3150415MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 16CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePOMT1C1836373MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K4CTD_human;GENOMICS_ENGLAND;UNIPROT
HgenePOMT1C0457133Muscle eye brain disease2CTD_human;ORPHANET
HgenePOMT1C0265221Walker-Warburg congenital muscular dystrophy1CTD_human;ORPHANET
TgeneNUP214C0025958Microcephaly1GENOMICS_ENGLAND
TgeneNUP214C0543888Epileptic encephalopathy1GENOMICS_ENGLAND
TgeneNUP214C1836830Developmental regression1GENOMICS_ENGLAND
TgeneNUP214C1961099Precursor T-Cell Lymphoblastic Leukemia-Lymphoma1ORPHANET