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Fusion gene ID: 12078 |
FusionGeneSummary for ESCO1_SNRPD1 |
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Fusion gene information | Fusion gene name: ESCO1_SNRPD1 | Fusion gene ID: 12078 | Hgene | Tgene | Gene symbol | ESCO1 | SNRPD1 | Gene ID | 114799 | 6633 |
Gene name | establishment of sister chromatid cohesion N-acetyltransferase 1 | small nuclear ribonucleoprotein D2 polypeptide | |
Synonyms | A930014I12Rik|CTF|ECO1|EFO1|ESO1 | SMD2|SNRPD1|Sm-D2 | |
Cytomap | 18q11.2 | 19q13.32 | |
Type of gene | protein-coding | protein-coding | |
Description | N-acetyltransferase ESCO1CTF7 homolog 1ECO1 homolog 1EFO1pESO1 homolog 1N-acetyltransferase ESCO1 variant 2establishment factor-like protein 1establishment of cohesion 1 homolog 1hEFO1 | small nuclear ribonucleoprotein Sm D2small nuclear ribonucleoprotein D2 polypeptide 16.5kDasnRNP core protein D2 | |
Modification date | 20180523 | 20180523 | |
UniProtAcc | Q5FWF5 | P62314 | |
Ensembl transtripts involved in fusion gene | ENST00000269214, ENST00000580101, | ENST00000300413, ENST00000579618, ENST00000582475, | |
Fusion gene scores | * DoF score | 10 X 5 X 7=350 | 4 X 3 X 4=48 |
# samples | 13 | 4 | |
** MAII score | log2(13/350*10)=-1.42884329880387 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | log2(4/48*10)=-0.263034405833794 possibly effective Gene in Pan-Cancer Fusion Genes (peGinPCFGs). DoF>8 and MAII<0 | |
Context | PubMed: ESCO1 [Title/Abstract] AND SNRPD1 [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 | ESCO1 | GO:0018394 | peptidyl-lysine acetylation | 27112597 |
Tgene | 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 | LD | UCEC | TCGA-AJ-A3TW-01A | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
* 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 |
5UTR-3CDS | ENST00000269214 | ENST00000300413 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
5UTR-3CDS | ENST00000269214 | ENST00000579618 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
5UTR-intron | ENST00000269214 | ENST00000582475 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
5UTR-3CDS | ENST00000580101 | ENST00000300413 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
5UTR-3CDS | ENST00000580101 | ENST00000579618 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
5UTR-intron | ENST00000580101 | ENST00000582475 | ESCO1 | chr18 | 19180584 | - | SNRPD1 | chr18 | 19202686 | + |
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FusionProtFeatures for ESCO1_SNRPD1 |
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Hgene | Tgene |
ESCO1 | SNRPD1 |
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}. |
![]() * 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 ESCO1_SNRPD1 |
![]() (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 ESCO1_SNRPD1 |
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Hgene | Hgene's interactors | Tgene | Tgene's interactors |
ESCO1 | KDM1A, HDAC1, HDAC2, HIST1H3A, EHMT2, SUV39H1, SETDB1, HECW2, CDK1, FGFR1OP, CBX8, SMC6, TRIM25 | 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 |
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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 ESCO1_SNRPD1 |
![]() (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 ESCO1_SNRPD1 |
![]() (DisGeNet 4.0) |
Partner | Gene | Disease ID | Disease name | # pubmeds | Source |