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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: 35200

FusionGeneSummary for SNRPD2_COL24A1

check button Fusion gene summary
Fusion gene informationFusion gene name: SNRPD2_COL24A1
Fusion gene ID: 35200
HgeneTgene
Gene symbol

SNRPD2

COL24A1

Gene ID

6633

255631

Gene namesmall nuclear ribonucleoprotein D2 polypeptidecollagen type XXIV alpha 1 chain
SynonymsSMD2|SNRPD1|Sm-D2-
Cytomap

19q13.32

1p22.3

Type of geneprotein-codingprotein-coding
Descriptionsmall nuclear ribonucleoprotein Sm D2small nuclear ribonucleoprotein D2 polypeptide 16.5kDasnRNP core protein D2collagen alpha-1(XXIV) chaincollagen, type XXIV, alpha 1
Modification date2018052320180523
UniProtAcc

P62316

Q17RW2

Ensembl transtripts involved in fusion geneENST00000342669, ENST00000585392, 
ENST00000587367, ENST00000588599, 
ENST00000391932, ENST00000588301, 
ENST00000590212, ENST00000587579, 
ENST00000436319, ENST00000370571, 
ENST00000485434, 
Fusion gene scores* DoF score3 X 3 X 1=94 X 4 X 2=32
# samples 33
** MAII scorelog2(3/9*10)=1.73696559416621
effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs).
DoF>8 and MAII>0
log2(3/32*10)=-0.0931094043914815
possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs).
DoF>8 and MAII<0
Context

PubMed: SNRPD2 [Title/Abstract] AND COL24A1 [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
HgeneSNRPD2

GO:0000387

spliceosomal snRNP assembly

18984161


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
ChiTaRS3.1BI868400SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
* 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
intron-intronENST00000342669ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000342669ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000342669ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000585392ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000585392ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000585392ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587367ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587367ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587367ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588599ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588599ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588599ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000391932ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000391932ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000391932ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588301ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588301ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000588301ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000590212ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000590212ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000590212ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587579ENST00000436319SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587579ENST00000370571SNRPD2chr19

46190793

-COL24A1chr1

86520590

-
intron-intronENST00000587579ENST00000485434SNRPD2chr19

46190793

-COL24A1chr1

86520590

-

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FusionProtFeatures for SNRPD2_COL24A1


check buttonMain function of each fusion partner protein. (from UniProt)
HgeneTgene
SNRPD2

P62316

COL24A1

Q17RW2

Core component of the spliceosomal U1, U2, U4 and U5small nuclear ribonucleoproteins (snRNPs), the building blocks ofthe spliceosome. Thereby, plays an important role in the splicingof cellular pre-mRNAs. Most spliceosomal snRNPs contain a commonset of Sm proteins SNRPB, SNRPD1, SNRPD2, SNRPD3, SNRPE, SNRPF andSNRPG that assemble in a heptameric protein ring on the Sm site ofthe small nuclear RNA to form the core snRNP.{ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:23333303}. May participate in regulating type I collagenfibrillogenesis at specific anatomical locations during fetaldevelopment. {ECO:0000269|PubMed:12874293}.

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 SNRPD2_COL24A1


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 SNRPD2_COL24A1


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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RelatedDrugs for SNRPD2_COL24A1


check button Drugs targeting genes involved in this fusion gene.
(DrugBank Version 5.1.0 2018-04-02)
PartnerGeneUniProtAccDrugBank IDDrug nameDrug activityDrug typeDrug status
HgeneSNRPD2P62316DB11638ArtenimolSmall nuclear ribonucleoprotein Sm D2small moleculeapproved|investigational

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RelatedDiseases for SNRPD2_COL24A1


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