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Center for Computational Systems Medicine
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FusionGeneSummary

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FusionProtFeature

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FusionGeneSequence

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FusionGenePPI

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RelatedDrugs

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RelatedDiseases

Fusion gene ID: 28026

FusionGeneSummary for POMT1_NUP214

check button Fusion gene summary
Fusion gene informationFusion gene name: POMT1_NUP214
Fusion gene ID: 28026
HgeneTgene
Gene symbol

POMT1

NUP214

Gene ID

10585

8021

Gene nameprotein O-mannosyltransferase 1nucleoporin 214
SynonymsLGMD2K|MDDGA1|MDDGB1|MDDGC1|RTCAIN|CAN
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 date2018052220180523
UniProtAcc

Q9Y6A1

P35658

Ensembl transtripts involved in fusion geneENST00000423007, ENST00000404875, 
ENST00000341012, ENST00000372228, 
ENST00000419118, ENST00000402686, 
ENST00000541219, ENST00000354713, 
ENST00000485278, 
ENST00000359428, 
ENST00000411637, ENST00000451030, 
ENST00000483497, ENST00000465486, 
Fusion gene scores* DoF score3 X 3 X 3=276 X 7 X 4=168
# samples 37
** MAII scorelog2(3/27*10)=0.15200309344505
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(7/168*10)=-1.26303440583379
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]

Functional or gene categories assigned by FusionGDB annotation
* 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 button Fusion gene information from three resources
(ChiTars (NAR, 2018), tumorfusions (NAR, 2018), Gao et al. (Cell, 2018))
* 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.
Data typeSourceCancer typeSampleHgeneHchrHbpHstrandTgeneTchrTbpTstrand
TCGARVLUADTCGA-50-5941-01APOMT1chr9

134378460

+NUP214chr9

134090599

+
* LD: Li Ding group's fusion gene list
  RV: Roel Verhaak group's fusion gene list
  ChiTaRs fusion database

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

+

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FusionProtFeatures for POMT1_NUP214


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
POMT1

Q9Y6A1

NUP214

P35658

May serve as a docking site in the receptor-mediatedimport of substrates across the nuclear pore complex.{ECO:0000303|PubMed:8108440}.

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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FusionGeneSequence for POMT1_NUP214


check button For in-frame fusion transcripts, we provide the fusion transcript sequences and fusion amino acid sequences.
(nt: nucleotides, aa: amino acids)

* Fusion amino acid sequences.

* Fusion transcript sequences (only coding sequence (CDS) region).

* Fusion transcript sequences (Full-length transcript).

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FusionGenePPI 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
POMT1ATP1B3, NRG1, SYNE4, KCNK16, IL9R, GABRE, CD244, A4GNT, ATP1B4, POMK, BTNL8, ZACN, HTR3C, TMEM92, RFTN2, UPK1A, PCDHA4, NCEH1, GGT7, GABRA3, MPPE1, CD1E, PCDHB7, HTR3A, TCTN2, VWCE, TMPRSS12, B4GAT1, NRROS, VNN2, PCDHGB4, SCNN1DNUP214ZFP36, XPO1, NUP107, NXF2, NXF1, XPO5, IPO5, G3BP1, G3BP2, RAE1, APC, HDAC4, HDAC5, HDAC9, NUP88, SMAD1, CLEC4G, SMAD2, SMAD3, SMAD4, SIRT7, RANBP2, CUL3, CUL2, NUPL2, NUP214, ACOT13, PNPT1, HSPA1L, VPS4B, S100A6, EEF1A1, STRIP1, RPL19, NDUFA7, ITGA4, SOX2, LMNA, FBXO6, CUL7, OBSL1, NUP62, CLEC11A, DDX19A, KCMF1, CFL1, CSRP1, DYNC1LI1, TRIM28, TXNDC9, NTRK1, IFI16, NUP85, NUP35, KPNB1, UBE2I, NUPL1, NUP153, SEH1L, C11orf30, CDH1, RAN, FXR2, EMILIN1, SERPINB2, BRCA1


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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RelatedDrugs for POMT1_NUP214


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status

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RelatedDiseases for POMT1_NUP214


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
HgenePOMT1C0265221Walker-Warburg congenital muscular dystrophy4CTD_human;ORPHANET;UNIPROT
HgenePOMT1C3150415MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14CTD_human;ORPHANET;UNIPROT
HgenePOMT1C1836373MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2K1CTD_human;ORPHANET;UNIPROT