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Fusion gene ID: 35198 |
FusionGeneSummary for SNRPD1_OSBPL1A |
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Fusion gene information | Fusion gene name: SNRPD1_OSBPL1A | Fusion gene ID: 35198 | Hgene | Tgene | Gene symbol | SNRPD1 | OSBPL1A | Gene ID | 6633 | 114876 |
Gene name | small nuclear ribonucleoprotein D2 polypeptide | oxysterol binding protein like 1A | |
Synonyms | SMD2|SNRPD1|Sm-D2 | ORP-1|ORP1|OSBPL1B | |
Cytomap | 19q13.32 | 18q11.2 | |
Type of gene | protein-coding | protein-coding | |
Description | small nuclear ribonucleoprotein Sm D2small nuclear ribonucleoprotein D2 polypeptide 16.5kDasnRNP core protein D2 | oxysterol-binding protein-related protein 1OSBP-related protein 1oxysterol binding protein-like 1Boxysterol-binding protein-related protein 1 variant 1oxysterol-binding protein-related protein 1 variant 2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | P62314 | Q9BXW6 | |
Ensembl transtripts involved in fusion gene | ENST00000300413, ENST00000579618, ENST00000582475, | ENST00000319481, ENST00000399443, ENST00000357041, ENST00000399441, ENST00000582618, | |
Fusion gene scores | * DoF score | 3 X 3 X 2=18 | 11 X 9 X 9=891 |
# samples | 3 | 12 | |
** MAII score | log2(3/18*10)=0.736965594166206 effective Gene in Pan-Cancer Fusion Genes (eGinPCFGs). DoF>8 and MAII>0 | log2(12/891*10)=-2.8923910259134 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: SNRPD1 [Title/Abstract] AND OSBPL1A [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 | SNRPD1 | 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 |
TCGA | RV | ESCA | TCGA-L5-A4OF-01A | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
* 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 |
5CDS-5UTR | ENST00000300413 | ENST00000319481 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000300413 | ENST00000399443 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000300413 | ENST00000357041 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000300413 | ENST00000399441 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000300413 | ENST00000582618 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000579618 | ENST00000319481 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000579618 | ENST00000399443 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-intron | ENST00000579618 | ENST00000357041 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000579618 | ENST00000399441 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5CDS-5UTR | ENST00000579618 | ENST00000582618 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5UTR-5UTR | ENST00000582475 | ENST00000319481 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5UTR-intron | ENST00000582475 | ENST00000399443 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5UTR-intron | ENST00000582475 | ENST00000357041 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5UTR-5UTR | ENST00000582475 | ENST00000399441 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
5UTR-5UTR | ENST00000582475 | ENST00000582618 | SNRPD1 | chr18 | 19192404 | + | OSBPL1A | chr18 | 21957499 | - |
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FusionProtFeatures for SNRPD1_OSBPL1A |
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Hgene | Tgene |
SNRPD1 | OSBPL1A |
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. May act as a chargedprotein scaffold to promote snRNP assembly or strengthen snRNP-snRNP interactions through nonspecific electrostatic contacts withRNA. {ECO:0000269|PubMed:18984161, ECO:0000269|PubMed:23333303}. | Binds phospholipids; exhibits strong binding tophosphatidic acid and weak binding to phosphatidylinositol 3-phosphate (By similarity). Stabilizes GTP-bound RAB7A on lateendosomes/lysosomes and alters functional properties of lateendocytic compartments via its interaction with RAB7A(PubMed:16176980). Binds 25-hydroxycholesterol and cholesterol(PubMed:17428193). {ECO:0000250, ECO:0000269|PubMed:16176980,ECO:0000269|PubMed:17428193}. |
![]() * 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 SNRPD1_OSBPL1A |
![]() (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 SNRPD1_OSBPL1A |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
SNRPD1 | LSM8, RNU11, PRMT5, CLNS1A, WDR77, GEMIN5, SMN1, SNRPD2, SF3A2, DDX20, SMN2, CDC5L, SRRM2, RBM39, SREK1, HDGF, ARRB1, ARRB2, HNRNPA1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, SNRPB, SF3B3, SNRPE, SF3A1, SNRPA1, SNRPD3, PRPF8, SNRNP70, LSM2, SF3B1, SF3B2, YBX1, HNRNPU, SF3B5, SF3B6, HNRNPK, PRPF6, SNRNP200, HNRNPM, EFTUD2, U2AF2, HNRNPA2B1, PRPF19, TPR, SART1, DDX5, BCAS2, TOP1, EEF1A1, HSPA5, UCHL3, TRIM28, RPS7, SRP14, SUPT16H, HSP90AB1, PTGES3, APEX1, ESR1, MAGOH, EIF4A3, SMURF1, CTNNB1, FN1, VCAM1, U2AF1, LSM3, IFIT1, IFIT2, IFIT3, IL7R, ITGA4, PAN2, CD81, IGSF8, ICAM1, NPM1, EGFR, SRPK2, SRPK3, PRPF4B, FERMT2, PDHB, SCLY, EIF5, WWOX, ASB1, ASB2, OBSL1, EZH2, SUZ12, EED, RNF2, BLK, DDX23, SNRNP40, SNUPN, MCFD2, PRPF31, RCC2, RUVBL1, SF3A3, DHX9, DPY30, LSM7, LUC7L, LUC7L2, PDCD4, SNRPF, TIA1, TMOD3, USP7, YWHAE, YWHAQ, RNU12, GEMIN7, CRBN, PTPN4, SNRPN, SNRPG, CD2BP2, LSM6, GEMIN2, PRPF3, NCL, CYLD, AAR2, EAPP, TSSC4, HEY1, LMNA | OSBPL1A | BCL6, NPM1, BIN3, HEXIM1, C9orf41, VAPB, POLG2, KIFAP3, TSC22D2, VAPA, HIF1AN, DMD, CTNNA3, ZNF331, BSPRY, PRPF31, TRIM25, BAALC |
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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 SNRPD1_OSBPL1A |
![]() (DrugBank Version 5.1.0 2018-04-02) |
Partner | Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for SNRPD1_OSBPL1A |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |