| node1 | node2 | node1 accession | node2 accession | node1 annotation | node2 annotation | score |
| ATXN1 | RBM17 | ENSP00000244769 | ENSP00000369218 | ataxin 1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.953 |
| DHX15 | RBM17 | ENSP00000336741 | ENSP00000369218 | DEAH (Asp-Glu-Ala-His) box polypeptide 15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity) | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.906 |
| DHX15 | SF3A2 | ENSP00000336741 | ENSP00000221494 | DEAH (Asp-Glu-Ala-His) box polypeptide 15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity) | splicing factor 3a, subunit 2, 66kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex | 0.999 |
| DHX15 | SF3B1 | ENSP00000336741 | ENSP00000335321 | DEAH (Asp-Glu-Ala-His) box polypeptide 15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity) | splicing factor 3b, subunit 1, 155kDa; Subunit of the splicing factor SF3B required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron | 0.796 |
| ESR2 | RBM17 | ENSP00000343925 | ENSP00000369218 | estrogen receptor 2 (ER beta) | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.800 |
| MAPK8 | RBM17 | ENSP00000353483 | ENSP00000369218 | mitogen-activated protein kinase 8; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JU [...] | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.923 |
| RAD51D | RBM17 | ENSP00000466399 | ENSP00000369218 | RAD51 homolog D (S. cerevisiae) | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.757 |
| RBM17 | ATXN1 | ENSP00000369218 | ENSP00000244769 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | ataxin 1; Chromatin-binding factor that repress Notch signaling in the absence of Notch intracellular domain by acting as a CBF1 corepressor. Binds to the HEY promoter and might assist, along with NCOR2, RBPJ-mediated repression. Binds RNA in vitro. May be involved in RNA metabolism. The expansion of the polyglutamine tract may alter this function | 0.953 |
| RBM17 | DHX15 | ENSP00000369218 | ENSP00000336741 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | DEAH (Asp-Glu-Ala-His) box polypeptide 15; Pre-mRNA processing factor involved in disassembly of spliceosomes after the release of mature mRNA (By similarity) | 0.906 |
| RBM17 | ESR2 | ENSP00000369218 | ENSP00000343925 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | estrogen receptor 2 (ER beta) | 0.800 |
| RBM17 | MAPK8 | ENSP00000369218 | ENSP00000353483 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | mitogen-activated protein kinase 8; Serine/threonine-protein kinase involved in various processes such as cell proliferation, differentiation, migration, transformation and programmed cell death. Extracellular stimuli such as proinflammatory cytokines or physical stress stimulate the stress-activated protein kinase/c-Jun N-terminal kinase (SAP/JNK) signaling pathway. In this cascade, two dual specificity kinases MAP2K4/MKK4 and MAP2K7/MKK7 phosphorylate and activate MAPK8/JNK1. In turn, MAPK8/JNK1 phosphorylates a number of transcription factors, primarily components of AP-1 such as JU [...] | 0.923 |
| RBM17 | RAD51D | ENSP00000369218 | ENSP00000466399 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | RAD51 homolog D (S. cerevisiae) | 0.757 |
| RBM17 | SAT1 | ENSP00000369218 | ENSP00000368572 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | spermidine/spermine N1-acetyltransferase 1; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity- norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine | 0.775 |
| RBM17 | SF1 | ENSP00000369218 | ENSP00000366604 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | splicing factor 1 | 0.911 |
| RBM17 | SF3A2 | ENSP00000369218 | ENSP00000221494 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | splicing factor 3a, subunit 2, 66kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex | 0.996 |
| RBM17 | SF3B1 | ENSP00000369218 | ENSP00000335321 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | splicing factor 3b, subunit 1, 155kDa; Subunit of the splicing factor SF3B required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex. Belongs also to the minor U12-dependent spliceosome, which is involved in the splicing of rare class of nuclear pre-mRNA intron | 0.954 |
| RBM17 | U2SURP | ENSP00000369218 | ENSP00000322376 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | U2 snRNP-associated SURP domain containing | 0.834 |
| SAT1 | RBM17 | ENSP00000368572 | ENSP00000369218 | spermidine/spermine N1-acetyltransferase 1; Enzyme which catalyzes the acetylation of polyamines. Substrate specificity- norspermidine = spermidine >> spermine > N(1)-acetylspermine > putrescine. This highly regulated enzyme allows a fine attenuation of the intracellular concentration of polyamines. Also involved in the regulation of polyamine transport out of cells. Acts on 1,3-diaminopropane, 1,5-diaminopentane, putrescine, spermidine (forming N(1)- and N(8)-acetylspermidine), spermine, N(1)-acetylspermidine and N(8)-acetylspermidine | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.775 |
| SF1 | RBM17 | ENSP00000366604 | ENSP00000369218 | splicing factor 1 | RNA binding motif protein 17; Splice factor that binds to the single stranded 3’AG at the exon/intron border and promotes its utilization in the second catalytic step. Involved in the regulation of alternative splicing and the utilization of cryptic splice sites. Promotes the utilization of a cryptic splice site created by the beta-110 mutation in the HBB gene. The resulting frameshift leads to sickle cell anemia | 0.911 |
| SF1 | SF3A2 | ENSP00000366604 | ENSP00000221494 | splicing factor 1 | splicing factor 3a, subunit 2, 66kDa; Subunit of the splicing factor SF3A required for ’A’ complex assembly formed by the stable binding of U2 snRNP to the branchpoint sequence (BPS) in pre-mRNA. Sequence independent binding of SF3A/SF3B complex upstream of the branch site is essential, it may anchor U2 snRNP to the pre-mRNA. May also be involved in the assembly of the ’E’ complex | 0.951 |
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