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| Open reading frame (ORF) annotation in the exon skipping event |
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| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
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Gene summary for RBBP7 |
 Gene summary |
| Gene information | Gene symbol | RBBP7 | Gene ID | 5931 |
| Gene name | RB binding protein 7, chromatin remodeling factor | |
| Synonyms | RbAp46 | |
| Cytomap | Xp22.2 | |
| Type of gene | protein-coding | |
| Description | histone-binding protein RBBP7G1/S transition control protein-binding protein RbAp46RBBP-7histone acetyltransferase type B subunit 2nucleosome-remodeling factor subunit RBAP46retinoblastoma-binding protein 7retinoblastoma-binding protein RbAp46retin | |
| Modification date | 20180522 | |
| UniProtAcc | Q16576 | |
| Context | PubMed: RBBP7 [Title/Abstract] AND exon [Title/Abstract] AND skip [Title/Abstract] - Title (PMID) |
| Gene ontology of each this gene with evidence of Inferred from Direct Assay (IDA) from Entrez |
| Gene | GO ID | GO term | PubMed ID |
| RBBP7 | GO:0030308 | negative regulation of cell growth | 9765217 |
| RBBP7 | GO:0070370 | cellular heat acclimation | 7503932 |
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Exon skipping events across known transcript of Ensembl for RBBP7 from UCSC genome browser |
| Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure. * Click on the image to open the UCSC genome browser with custom track showing this image in a new window. |
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Gene isoform structures and expression levels for RBBP7 |
| Expression levels of gene isoforms across TCGA. |
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| Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for RBBP7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514095 | X | 16863150:16863226:16863950:16864061:16867366:16867424 | 16863950:16864061 | ENSG00000102054.13 | ENST00000425696.1,ENST00000380084.4,ENST00000404022.1,ENST00000330735.3,ENST00000380087.2 |
| exon_skip_514102 | X | 16863993:16864061:16867366:16867424:16870168:16870188 | 16867366:16867424 | ENSG00000102054.13 | ENST00000380084.4,ENST00000404022.1,ENST00000330735.3,ENST00000481586.1,ENST00000380087.2 |
| exon_skip_514119 | X | 16870168:16870245:16870538:16870673:16870871:16870905 | 16870538:16870673 | ENSG00000102054.13 | ENST00000416035.1 |
| exon_skip_514121 | X | 16870168:16870245:16870673:16870751:16870871:16870905 | 16870673:16870751 | ENSG00000102054.13 | ENST00000380084.4,ENST00000444437.1,ENST00000404022.1,ENST00000481586.1,ENST00000380087.2 |
| exon_skip_514130 | X | 16870673:16870751:16870871:16870998:16871804:16871965 | 16870871:16870998 | ENSG00000102054.13 | ENST00000380084.4,ENST00000444437.1,ENST00000404022.1,ENST00000380087.2 |
| exon_skip_514133 | X | 16875716:16875832:16876798:16876945:16881077:16881144 | 16876798:16876945 | ENSG00000102054.13 | ENST00000404022.1 |
| exon_skip_514134 | X | 16875716:16875832:16876798:16876972:16881077:16881144 | 16876798:16876972 | ENSG00000102054.13 | ENST00000380084.4,ENST00000416035.1,ENST00000380087.2 |
| exon_skip_514135 | X | 16876798:16876972:16881077:16881223:16887198:16887343 | 16881077:16881223 | ENSG00000102054.13 | ENST00000380084.4,ENST00000380087.2 |
| exon_skip_514137 | X | 16881079:16881223:16887198:16887343:16888160:16888467 | 16887198:16887343 | ENSG00000102054.13 | ENST00000404022.1,ENST00000380087.2 |
| exon_skip_514138 | X | 16881079:16881223:16887198:16887377:16888160:16888467 | 16887198:16887377 | ENSG00000102054.13 | ENST00000468092.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for RBBP7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_514095 | X | 16863150:16863226:16863950:16864061:16867366:16867424 | 16863950:16864061 | ENSG00000102054.13 | ENST00000425696.1,ENST00000380087.2,ENST00000330735.3,ENST00000380084.4,ENST00000404022.1 |
| exon_skip_514102 | X | 16863993:16864061:16867366:16867424:16870168:16870188 | 16867366:16867424 | ENSG00000102054.13 | ENST00000380087.2,ENST00000330735.3,ENST00000380084.4,ENST00000404022.1,ENST00000481586.1 |
| exon_skip_514119 | X | 16870168:16870245:16870538:16870673:16870871:16870905 | 16870538:16870673 | ENSG00000102054.13 | ENST00000416035.1 |
| exon_skip_514121 | X | 16870168:16870245:16870673:16870751:16870871:16870905 | 16870673:16870751 | ENSG00000102054.13 | ENST00000380087.2,ENST00000380084.4,ENST00000404022.1,ENST00000481586.1,ENST00000444437.1 |
| exon_skip_514130 | X | 16870673:16870751:16870871:16870998:16871804:16871965 | 16870871:16870998 | ENSG00000102054.13 | ENST00000380087.2,ENST00000380084.4,ENST00000404022.1,ENST00000444437.1 |
| exon_skip_514133 | X | 16875716:16875832:16876798:16876945:16881077:16881144 | 16876798:16876945 | ENSG00000102054.13 | ENST00000404022.1 |
| exon_skip_514134 | X | 16875716:16875832:16876798:16876972:16881077:16881144 | 16876798:16876972 | ENSG00000102054.13 | ENST00000380087.2,ENST00000380084.4,ENST00000416035.1 |
| exon_skip_514135 | X | 16876798:16876972:16881077:16881223:16887198:16887343 | 16881077:16881223 | ENSG00000102054.13 | ENST00000380087.2,ENST00000380084.4 |
| exon_skip_514137 | X | 16881079:16881223:16887198:16887343:16888160:16888467 | 16887198:16887343 | ENSG00000102054.13 | ENST00000380087.2,ENST00000404022.1 |
| exon_skip_514138 | X | 16881079:16881223:16887198:16887377:16888160:16888467 | 16887198:16887377 | ENSG00000102054.13 | ENST00000468092.1 |
| PSI values of skipped exons in GTEx. |
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| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for RBBP7 |
| Open reading frame (ORF) of individual exon skipping events in TCGA based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380087 | 16867366 | 16867424 | Frame-shift |
| ENST00000380087 | 16870871 | 16870998 | Frame-shift |
| ENST00000380087 | 16881077 | 16881223 | Frame-shift |
| ENST00000380087 | 16887198 | 16887343 | Frame-shift |
| ENST00000380087 | 16863950 | 16864061 | In-frame |
| ENST00000380087 | 16870673 | 16870751 | In-frame |
| ENST00000380087 | 16876798 | 16876972 | In-frame |
| Open reading frame (ORF) of individual exon skipping events in GTEx based on the Ensembl gene structure combined from isoforms. |
| ENST | Start of skipped exon | End of skipped exon | ORF |
| ENST00000380087 | 16867366 | 16867424 | Frame-shift |
| ENST00000380087 | 16870871 | 16870998 | Frame-shift |
| ENST00000380087 | 16881077 | 16881223 | Frame-shift |
| ENST00000380087 | 16887198 | 16887343 | Frame-shift |
| ENST00000380087 | 16863950 | 16864061 | In-frame |
| ENST00000380087 | 16870673 | 16870751 | In-frame |
| ENST00000380087 | 16876798 | 16876972 | In-frame |
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Infer the effects of exon skipping event on protein functional features for RBBP7 |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
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| Loci of skipped exons in TCGA across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000380087 | 2350 | 425 | 16876798 | 16876972 | 669 | 842 | 102 | 160 |
| ENST00000380087 | 2350 | 425 | 16870673 | 16870751 | 1247 | 1324 | 295 | 321 |
| ENST00000380087 | 2350 | 425 | 16863950 | 16864061 | 1460 | 1570 | 366 | 403 |
| Loci of skipped exons in GTEx across genomic, transcript, and protein sequence levels of In-frame cases. |
| ENST | Length of mRNA | Length of AA seq. | Genomic start | Genomic end | mRNA start | mRNA end | AA start | AA end |
| ENST00000380087 | 2350 | 425 | 16876798 | 16876972 | 669 | 842 | 102 | 160 |
| ENST00000380087 | 2350 | 425 | 16870673 | 16870751 | 1247 | 1324 | 295 | 321 |
| ENST00000380087 | 2350 | 425 | 16863950 | 16864061 | 1460 | 1570 | 366 | 403 |
| Lost protein functional features of individual exon skipping events in TCGA. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q16576 | 102 | 160 | 113 | 124 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 127 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 138 | 142 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 144 | 146 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 148 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 102 | 160 | 155 | 155 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q16576 | 102 | 160 | 159 | 159 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 |
| Q16576 | 102 | 160 | 153 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 119 | 119 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60973 |
| Q16576 | 102 | 160 | 159 | 159 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60973 |
| Q16576 | 102 | 160 | 47 | 122 | Repeat | Note=WD 1 |
| Q16576 | 102 | 160 | 128 | 173 | Repeat | Note=WD 2 |
| Q16576 | 295 | 321 | 295 | 301 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 305 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFV |
| Q16576 | 295 | 321 | 310 | 313 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 319 | 324 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 295 | 321 | 275 | 312 | Repeat | Note=WD 5 |
| Q16576 | 295 | 321 | 318 | 369 | Repeat | Note=WD 6 |
| Q16576 | 366 | 403 | 365 | 369 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 376 | 381 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 383 | 385 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 388 | 393 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 396 | 403 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 366 | 403 | 318 | 369 | Repeat | Note=WD 6 |
| Q16576 | 366 | 403 | 376 | 403 | Repeat | Note=WD 7 |
| Lost protein functional features of individual exon skipping events in GTEx. |
| UniProt acc. | Start of exon skipping (AA) | End of exon skipping (AA) | Protein feature start (AA) | Protein feature end (AA) | Category of protein feature | Description of feature |
| Q16576 | 102 | 160 | 113 | 124 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 127 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 138 | 142 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 144 | 146 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 148 | 152 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 102 | 160 | 155 | 155 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2);Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:28112733;Dbxref=PMID:28112733 |
| Q16576 | 102 | 160 | 159 | 159 | Cross-link | Note=Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)%3B alternate;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:25772364,ECO:0000244|PubMed:28112733;Dbxref=PMID:25772364,PMID:28112733 |
| Q16576 | 102 | 160 | 153 | 155 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 102 | 160 | 119 | 119 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60973 |
| Q16576 | 102 | 160 | 159 | 159 | Modified residue | Note=N6-acetyllysine%3B alternate;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q60973 |
| Q16576 | 102 | 160 | 47 | 122 | Repeat | Note=WD 1 |
| Q16576 | 102 | 160 | 128 | 173 | Repeat | Note=WD 2 |
| Q16576 | 295 | 321 | 295 | 301 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 305 | 307 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFV |
| Q16576 | 295 | 321 | 310 | 313 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 319 | 324 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 295 | 321 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 295 | 321 | 275 | 312 | Repeat | Note=WD 5 |
| Q16576 | 295 | 321 | 318 | 369 | Repeat | Note=WD 6 |
| Q16576 | 366 | 403 | 365 | 369 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 376 | 381 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 383 | 385 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 388 | 393 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 396 | 403 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:3CFS |
| Q16576 | 366 | 403 | 2 | 425 | Chain | ID=PRO_0000051195;Note=Histone-binding protein RBBP7 |
| Q16576 | 366 | 403 | 318 | 369 | Repeat | Note=WD 6 |
| Q16576 | 366 | 403 | 376 | 403 | Repeat | Note=WD 7 |
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SNVs in the skipped exons for RBBP7 |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
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| - Differential PSIs between mutated versus non-mutated samples. |
RBBP7_BRCA_exon_skip_514095_psi_boxplot.png |
RBBP7_COAD_exon_skip_514095_psi_boxplot.png |
| - Non-synonymous mutations located in the skipped exons in TCGA. |
| Cancer type | Sample | ESID | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| COAD | TCGA-CM-5861-01 | exon_skip_514095 | 16863951 | 16864061 | 16864001 | 16864001 | Frame_Shift_Del | A | - | p.W431fs |
| ESCA | TCGA-IG-A51D-01 | exon_skip_514095 | 16863951 | 16864061 | 16864049 | 16864050 | Frame_Shift_Del | CT | - | p.G371fs |
| ESCA | TCGA-IG-A51D-01 | exon_skip_514095 | 16863951 | 16864061 | 16864049 | 16864050 | Frame_Shift_Del | CT | - | p.GG370fs |
| LUAD | TCGA-38-4631-01 | exon_skip_514121 | 16870674 | 16870751 | 16870709 | 16870709 | Frame_Shift_Del | G | - | p.H310fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_514130 | 16870872 | 16870998 | 16870890 | 16870890 | Frame_Shift_Del | G | - | p.A289fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_514133 | 16876799 | 16876945 | 16876853 | 16876853 | Frame_Shift_Del | T | - | p.T143fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_514133 | 16876799 | 16876945 | 16876853 | 16876853 | Frame_Shift_Del | T | - | p.T187fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_514134 | 16876799 | 16876972 | 16876853 | 16876853 | Frame_Shift_Del | T | - | p.T143fs |
| STAD | TCGA-CD-A4MG-01 | exon_skip_514134 | 16876799 | 16876972 | 16876853 | 16876853 | Frame_Shift_Del | T | - | p.T187fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_514137 | 16887199 | 16887343 | 16887258 | 16887258 | Frame_Shift_Del | A | - | p.V34fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_514138 | 16887199 | 16887377 | 16887258 | 16887258 | Frame_Shift_Del | A | - | p.V34fs |
| BLCA | TCGA-K4-A54R-01 | exon_skip_514095 | 16863951 | 16864061 | 16864007 | 16864007 | Nonsense_Mutation | C | A | p.E385* |
| LUAD | TCGA-97-A4M5-01 | exon_skip_514102 | 16867367 | 16867424 | 16867404 | 16867404 | Nonsense_Mutation | G | C | p.S354* |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_514137 | 16887199 | 16887343 | 16887221 | 16887221 | Nonsense_Mutation | G | A | p.Q47* |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_514137 | 16887199 | 16887343 | 16887221 | 16887221 | Nonsense_Mutation | G | A | p.Q91X |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_514138 | 16887199 | 16887377 | 16887221 | 16887221 | Nonsense_Mutation | G | A | p.Q47* |
| ESCA | TCGA-Z6-A8JE-01 | exon_skip_514138 | 16887199 | 16887377 | 16887221 | 16887221 | Nonsense_Mutation | G | A | p.Q91X |
| HNSC | TCGA-F7-A50J-01 | exon_skip_514137 | 16887199 | 16887343 | 16887242 | 16887242 | Nonsense_Mutation | G | A | p.Q40* |
| HNSC | TCGA-F7-A50J-01 | exon_skip_514138 | 16887199 | 16887377 | 16887242 | 16887242 | Nonsense_Mutation | G | A | p.Q40* |
| BRCA | TCGA-AC-A23C-01 | exon_skip_514095 | 16863951 | 16864061 | 16863950 | 16863950 | Splice_Site | C | A | e11+1 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-AC-A23C-01 |
| Cancer type: BRCA | |
| ESID: exon_skip_514095 | |
| Skipped exon start: 16863951 | |
| Skipped exon end: 16864061 | |
| Mutation start: 16863950 | |
| Mutation end: 16863950 | |
| Mutation type: Splice_Site | |
| Reference seq: C | |
| Mutation seq: A | |
| AAchange: e11+1 | |
exon_skip_385593_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_43714_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_443239_BRCA_TCGA-AC-A23C-01.png | |
exon_skip_514095_BRCA_TCGA-AC-A23C-01.png | |
| - Non-synonymous mutations located in the skipped exons in CCLE. |
| Sample | Skipped exon start | Skipped exon end | Mutation start | Mutation end | Mutation type | Reference seq | Mutation seq | AAchange |
| HEC6_ENDOMETRIUM | 16863951 | 16864061 | 16863966 | 16863966 | Missense_Mutation | C | T | p.M398I |
| BALL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16867367 | 16867424 | 16867392 | 16867392 | Missense_Mutation | G | A | p.A358V |
| BB30HNC_UPPER_AERODIGESTIVE_TRACT | 16870872 | 16870998 | 16870930 | 16870930 | Missense_Mutation | T | C | p.N276S |
| SISO_CERVIX | 16870872 | 16870998 | 16870961 | 16870961 | Missense_Mutation | G | A | p.H266Y |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16870872 | 16870998 | 16870961 | 16870961 | Missense_Mutation | G | A | p.H266Y |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16876799 | 16876972 | 16876841 | 16876841 | Missense_Mutation | C | A | p.D147Y |
| EOL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16876799 | 16876945 | 16876841 | 16876841 | Missense_Mutation | C | A | p.D147Y |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16876799 | 16876972 | 16876862 | 16876862 | Missense_Mutation | C | A | p.A140S |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 16876799 | 16876945 | 16876862 | 16876862 | Missense_Mutation | C | A | p.A140S |
| SNU175_LARGE_INTESTINE | 16876799 | 16876972 | 16876898 | 16876898 | Missense_Mutation | G | A | p.R128C |
| SNU175_LARGE_INTESTINE | 16876799 | 16876945 | 16876898 | 16876898 | Missense_Mutation | G | A | p.R128C |
| HEC251_ENDOMETRIUM | 16887199 | 16887343 | 16887285 | 16887285 | Missense_Mutation | C | A | p.K25N |
| HEC251_ENDOMETRIUM | 16887199 | 16887377 | 16887285 | 16887285 | Missense_Mutation | C | A | p.K25N |
| HCT116_LARGE_INTESTINE | 16887199 | 16887343 | 16887311 | 16887311 | Missense_Mutation | T | C | p.N17D |
| HCT116_LARGE_INTESTINE | 16887199 | 16887377 | 16887311 | 16887311 | Missense_Mutation | T | C | p.N17D |
| MCC13_SKIN | 16870674 | 16870751 | 16870737 | 16870737 | Nonsense_Mutation | C | T | p.W300* |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 16881078 | 16881223 | 16881079 | 16881079 | Splice_Site | A | T | p.G102G |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for RBBP7 |
| sQTL information located at the skipped exons. |
| Exon skip ID | Chromosome | Three exons | Skippped exon | ENST | Cancer type | SNP id | Location | DNA change (ref/var) | P-value |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBBP7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for RBBP7 |
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RelatedDrugs for RBBP7 |
| Approved drugs targeting this gene. (DrugBank Version 5.1.0 2018-04-02) |
| Gene | UniProtAcc | DrugBank ID | Drug name | Drug activity | Drug type | Drug status |
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RelatedDiseases for RBBP7 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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