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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: 35682

FusionGeneSummary for SPIDR_POMGNT2

check button Fusion gene summary
Fusion gene informationFusion gene name: SPIDR_POMGNT2
Fusion gene ID: 35682
HgeneTgene
Gene symbol

SPIDR

POMGNT2

Gene ID

23514

84892

Gene namescaffold protein involved in DNA repairprotein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
SynonymsKIAA0146AGO61|C3orf39|GTDC2|MDDGA8
Cytomap

8q11.21

3p22.1

Type of geneprotein-codingprotein-coding
DescriptionDNA repair-scaffolding proteinscaffolding protein involved in DNA repairprotein O-linked-mannose beta-1,4-N-acetylglucosaminyltransferase 2glycosyltransferase-like domain containing 2glycosyltransferase-like domain-containing protein 2
Modification date2018052320180519
UniProtAcc

Q14159

Q8NAT1

Ensembl transtripts involved in fusion geneENST00000297423, ENST00000518074, 
ENST00000541342, ENST00000521214, 
ENST00000517693, ENST00000518060, 
ENST00000441964, ENST00000344697, 
Fusion gene scores* DoF score16 X 11 X 13=22884 X 1 X 3=12
# samples 213
** MAII scorelog2(21/2288*10)=-3.44562581911227
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
log2(3/12*10)=1.32192809488736
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
Context

PubMed: SPIDR [Title/Abstract] AND POMGNT2 [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
HgeneSPIDR

GO:0006974

cellular response to DNA damage stimulus

23509288

HgeneSPIDR

GO:0010569

regulation of double-strand break repair via homologous recombination

23754376

HgeneSPIDR

GO:0031334

positive regulation of protein complex assembly

23509288

HgeneSPIDR

GO:0070202

regulation of establishment of protein localization to chromosome

23509288

HgeneSPIDR

GO:0071479

cellular response to ionizing radiation

23509288|23754376

HgeneSPIDR

GO:0072711

cellular response to hydroxyurea

23509288

HgeneSPIDR

GO:0072757

cellular response to camptothecin

23509288

TgenePOMGNT2

GO:0006493

protein O-linked glycosylation

23929950


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
TCGALDESCATCGA-Q9-A6FU-01ASPIDRchr8

48203726

+POMGNT2chr3

43123028

-
* 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
5CDS-5UTRENST00000297423ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000297423ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000518074ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000518074ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000541342ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
5CDS-5UTRENST00000541342ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
3UTR-5UTRENST00000521214ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
3UTR-5UTRENST00000521214ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000517693ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000517693ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000518060ENST00000441964SPIDRchr8

48203726

+POMGNT2chr3

43123028

-
intron-5UTRENST00000518060ENST00000344697SPIDRchr8

48203726

+POMGNT2chr3

43123028

-

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FusionProtFeatures for SPIDR_POMGNT2


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

Q14159

POMGNT2

Q8NAT1

Plays a role in DNA double-strand break (DBS) repair viahomologous recombination (HR). Serves as a scaffolding proteinthat helps to promote the recruitment of DNA-processing enzymeslike the helicase BLM and recombinase RAD51 to site of DNA damage,and hence contributes to maintain genomic integrity.{ECO:0000269|PubMed:23509288, ECO:0000269|PubMed:23754376}. O-linked mannose beta-1,4-N-acetylglucosaminyltransferase that transfers UDP-N-acetyl-D-glucosamine to the 4-position of the mannose to generate N-acetyl-D-glucosamine-beta-1,4-O-D-mannosylprotein. Involved in thebiosynthesis of the phosphorylated O-mannosyl trisaccharide (N-acetylgalactosamine-beta-3-N-acetylglucosamine-beta-4-(phosphate-6-)mannose), a carbohydrate structure present in alpha-dystroglycan (DAG1), which is required for binding laminin G-likedomain-containing extracellular proteins with high affinity.{ECO:0000269|PubMed:23929950}.

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 SPIDR_POMGNT2


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 SPIDR_POMGNT2


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
SPIDRFOXL1, PLA2G10, TRIM25POMGNT2APP, FBXO6, NOTCH2NL, ATP1B3, NRG1, IDS, NPDC1, PLAUR, PTCH1, WBP1, CHRNA9, PON2, FOXL2, PECR, SLC9A6, FKBP14, SCGB2A2, FAM19A4, NOB1, EIF4E2, TRIM25


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 SPIDR_POMGNT2


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 SPIDR_POMGNT2


check button Diseases associated with fusion partners.
(DisGeNet 4.0)
PartnerGeneDisease IDDisease name# pubmedsSource
TgenePOMGNT2C3553813MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 81UNIPROT