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Fusion gene ID: 35200 |
FusionGeneSummary for SNRPD2_COL24A1 |
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Fusion gene information | Fusion gene name: SNRPD2_COL24A1 | Fusion gene ID: 35200 | Hgene | Tgene | Gene symbol | SNRPD2 | COL24A1 | Gene ID | 6633 | 255631 |
Gene name | small nuclear ribonucleoprotein D2 polypeptide | collagen type XXIV alpha 1 chain | |
Synonyms | SMD2|SNRPD1|Sm-D2 | - | |
Cytomap | 19q13.32 | 1p22.3 | |
Type of gene | protein-coding | protein-coding | |
Description | small nuclear ribonucleoprotein Sm D2small nuclear ribonucleoprotein D2 polypeptide 16.5kDasnRNP core protein D2 | collagen alpha-1(XXIV) chaincollagen, type XXIV, alpha 1 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P62316 | Q17RW2 | |
Ensembl transtripts involved in fusion gene | ENST00000342669, ENST00000585392, ENST00000587367, ENST00000588599, ENST00000391932, ENST00000588301, ENST00000590212, ENST00000587579, | ENST00000436319, ENST00000370571, ENST00000485434, | |
Fusion gene scores | * DoF score | 3 X 3 X 1=9 | 4 X 4 X 2=32 |
# samples | 3 | 3 | |
** MAII score | log2(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) |
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Partner | Gene | GO ID | GO term | PubMed ID |
Hgene | SNRPD2 | GO:0000387 | spliceosomal snRNP assembly | 18984161 |
![]() (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 type | Source | Cancer type | Sample | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
ChiTaRS3.1 | BI868400 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
* LD: Li Ding group's fusion gene list RV: Roel Verhaak group's fusion gene list ChiTaRs fusion database |
![]() * Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser. |
ORF | Henst | Tenst | Hgene | Hchr | Hbp | Hstrand | Tgene | Tchr | Tbp | Tstrand |
intron-intron | ENST00000342669 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000342669 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000342669 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000585392 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000585392 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000585392 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587367 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587367 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587367 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588599 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588599 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588599 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000391932 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000391932 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000391932 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588301 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588301 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000588301 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000590212 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000590212 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000590212 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587579 | ENST00000436319 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587579 | ENST00000370571 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
intron-intron | ENST00000587579 | ENST00000485434 | SNRPD2 | chr19 | 46190793 | - | COL24A1 | chr1 | 86520590 | - |
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FusionProtFeatures for SNRPD2_COL24A1 |
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Hgene | Tgene |
SNRPD2 | COL24A1 |
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}. |
![]() * 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. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
- In-frame and not-retained protein feature among the 13 regional features. |
Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Protein feature | Protein feature note |
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FusionGeneSequence for SNRPD2_COL24A1 |
![]() (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 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Still interaction with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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Partner | Gene | Hbp | Tbp | ENST | Strand | BPexon | TotalExon | Protein feature loci | *BPloci | TotalLen | Interaction lost with |
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RelatedDrugs for SNRPD2_COL24A1 |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
Hgene | SNRPD2 | P62316 | DB11638 | Artenimol | Small nuclear ribonucleoprotein Sm D2 | small molecule | approved|investigational |
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RelatedDiseases for SNRPD2_COL24A1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |