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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 MIS18BP1 |
 Gene summary |
| Gene information | Gene symbol | MIS18BP1 | Gene ID | 55320 |
| Gene name | MIS18 binding protein 1 | |
| Synonyms | C14orf106|HSA242977|KNL2|M18BP1 | |
| Cytomap | 14q21.2 | |
| Type of gene | protein-coding | |
| Description | mis18-binding protein 1P243hsKNL-2kinetochore null 2 homologkinetochore-associated protein KNL-2 homologputative protein p243 which interacts with transcription factor Sp1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q6P0N0 | |
| Context | PubMed: MIS18BP1 [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 |
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Exon skipping events across known transcript of Ensembl for MIS18BP1 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 MIS18BP1 |
| 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 MIS18BP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112949 | 14 | 45673039:45673415:45673601:45673656:45675285:45675373 | 45673601:45673656 | ENSG00000129534.9 | ENST00000310806.4,ENST00000470424.1 |
| exon_skip_112950 | 14 | 45673601:45673656:45675285:45675373:45679582:45679731 | 45675285:45675373 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112951 | 14 | 45675285:45675373:45679582:45679731:45686221:45686382 | 45679582:45679731 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112952 | 14 | 45679665:45679731:45686221:45686382:45687484:45687635 | 45686221:45686382 | ENSG00000129534.9 | ENST00000310806.4,ENST00000554093.1,ENST00000469020.1 |
| exon_skip_112953 | 14 | 45687484:45687657:45693120:45693949:45695945:45696039 | 45693120:45693949 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112954 | 14 | 45696028:45696039:45696865:45697017:45700343:45700501 | 45696865:45697017 | ENSG00000129534.9 | ENST00000454990.1,ENST00000310806.4 |
| exon_skip_112956 | 14 | 45700343:45700501:45701711:45701830:45701935:45701978 | 45701711:45701830 | ENSG00000129534.9 | ENST00000453142.1,ENST00000454990.1 |
| exon_skip_112958 | 14 | 45700343:45700501:45701935:45702023:45705016:45705147 | 45701935:45702023 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112962 | 14 | 45701935:45702023:45705016:45705147:45706850:45706920 | 45705016:45705147 | ENSG00000129534.9 | ENST00000454990.1,ENST00000310806.4 |
| exon_skip_112965 | 14 | 45706899:45706924:45711236:45711721:45711963:45712077 | 45711236:45711721 | ENSG00000129534.9 | ENST00000454990.1,ENST00000310806.4 |
| exon_skip_112967 | 14 | 45711963:45712077:45715945:45716580:45722237:45722380 | 45715945:45716580 | ENSG00000129534.9 | ENST00000454990.1 |
| exon_skip_112970 | 14 | 45716023:45716580:45719233:45719341:45722237:45722380 | 45719233:45719341 | ENSG00000129534.9 | ENST00000451174.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MIS18BP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_112949 | 14 | 45673039:45673415:45673601:45673656:45675285:45675373 | 45673601:45673656 | ENSG00000129534.9 | ENST00000310806.4,ENST00000470424.1 |
| exon_skip_112950 | 14 | 45673601:45673656:45675285:45675373:45679582:45679731 | 45675285:45675373 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112951 | 14 | 45675285:45675373:45679582:45679731:45686221:45686382 | 45679582:45679731 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112952 | 14 | 45679665:45679731:45686221:45686382:45687484:45687635 | 45686221:45686382 | ENSG00000129534.9 | ENST00000310806.4,ENST00000469020.1,ENST00000554093.1 |
| exon_skip_112953 | 14 | 45687484:45687657:45693120:45693949:45695945:45696039 | 45693120:45693949 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112956 | 14 | 45700343:45700501:45701711:45701830:45701935:45701978 | 45701711:45701830 | ENSG00000129534.9 | ENST00000454990.1,ENST00000453142.1 |
| exon_skip_112958 | 14 | 45700343:45700501:45701935:45702023:45705016:45705147 | 45701935:45702023 | ENSG00000129534.9 | ENST00000310806.4 |
| exon_skip_112962 | 14 | 45701935:45702023:45705016:45705147:45706850:45706920 | 45705016:45705147 | ENSG00000129534.9 | ENST00000310806.4,ENST00000454990.1 |
| exon_skip_112965 | 14 | 45706899:45706924:45711236:45711721:45711963:45712077 | 45711236:45711721 | ENSG00000129534.9 | ENST00000310806.4,ENST00000454990.1 |
| exon_skip_112967 | 14 | 45711963:45712077:45715945:45716580:45722237:45722380 | 45715945:45716580 | ENSG00000129534.9 | ENST00000454990.1 |
| exon_skip_112970 | 14 | 45716023:45716580:45719233:45719341:45722237:45722380 | 45719233:45719341 | ENSG00000129534.9 | ENST00000451174.1 |
| 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 MIS18BP1 |
| 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 |
| ENST00000310806 | 45673601 | 45673656 | Frame-shift |
| ENST00000310806 | 45675285 | 45675373 | Frame-shift |
| ENST00000310806 | 45679582 | 45679731 | Frame-shift |
| ENST00000310806 | 45686221 | 45686382 | Frame-shift |
| ENST00000310806 | 45693120 | 45693949 | Frame-shift |
| ENST00000310806 | 45696865 | 45697017 | Frame-shift |
| ENST00000310806 | 45701935 | 45702023 | Frame-shift |
| ENST00000310806 | 45705016 | 45705147 | Frame-shift |
| ENST00000310806 | 45711236 | 45711721 | Frame-shift |
| 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 |
| ENST00000310806 | 45673601 | 45673656 | Frame-shift |
| ENST00000310806 | 45675285 | 45675373 | Frame-shift |
| ENST00000310806 | 45679582 | 45679731 | Frame-shift |
| ENST00000310806 | 45686221 | 45686382 | Frame-shift |
| ENST00000310806 | 45693120 | 45693949 | Frame-shift |
| ENST00000310806 | 45701935 | 45702023 | Frame-shift |
| ENST00000310806 | 45705016 | 45705147 | Frame-shift |
| ENST00000310806 | 45711236 | 45711721 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for MIS18BP1 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for MIS18BP1 |
| - 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. |
MIS18BP1_COAD_exon_skip_112965_psi_boxplot.png |
MIS18BP1_ESCA_exon_skip_112965_psi_boxplot.png |
MIS18BP1_STAD_exon_skip_112965_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 |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_112949 | 45673602 | 45673656 | 45673600 | 45673610 | Frame_Shift_Del | GTGTATTACCT | - | p.D1099fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_112950 | 45675286 | 45675373 | 45675289 | 45675289 | Frame_Shift_Del | T | - | p.K1079fs |
| PRAD | TCGA-XK-AAIW-01 | exon_skip_112950 | 45675286 | 45675373 | 45675289 | 45675289 | Frame_Shift_Del | T | - | p.K1079fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112951 | 45679583 | 45679731 | 45679632 | 45679632 | Frame_Shift_Del | T | - | p.T1035fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_112952 | 45686222 | 45686382 | 45686230 | 45686230 | Frame_Shift_Del | T | - | p.R999fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112952 | 45686222 | 45686382 | 45686241 | 45686241 | Frame_Shift_Del | A | - | p.L995fs |
| COAD | TCGA-AY-6197-01 | exon_skip_112952 | 45686222 | 45686382 | 45686249 | 45686253 | Frame_Shift_Del | TGTAC | - | p.991_993del |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112952 | 45686222 | 45686382 | 45686256 | 45686256 | Frame_Shift_Del | A | - | p.F990fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112952 | 45686222 | 45686382 | 45686353 | 45686353 | Frame_Shift_Del | T | - | p.T958fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112953 | 45693121 | 45693949 | 45693324 | 45693324 | Frame_Shift_Del | T | - | p.E823fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_112953 | 45693121 | 45693949 | 45693338 | 45693338 | Frame_Shift_Del | C | - | p.E818fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_112953 | 45693121 | 45693949 | 45693376 | 45693376 | Frame_Shift_Del | T | - | p.K805fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112953 | 45693121 | 45693949 | 45693503 | 45693503 | Frame_Shift_Del | A | - | p.Y763fs |
| PRAD | TCGA-KK-A6E5-01 | exon_skip_112953 | 45693121 | 45693949 | 45693538 | 45693538 | Frame_Shift_Del | A | - | p.L751fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| KIRP | TCGA-IZ-8196-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| LGG | TCGA-DB-A75L-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| PAAD | TCGA-PZ-A5RE-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| SARC | TCGA-QQ-A8VF-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| STAD | TCGA-BR-4292-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693723 | Frame_Shift_Del | TT | - | p.690_690del |
| STAD | TCGA-BR-4368-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693723 | Frame_Shift_Del | TT | - | p.690_690del |
| STAD | TCGA-BR-8078-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693723 | Frame_Shift_Del | TT | - | p.690_690del |
| STAD | TCGA-CD-A4MG-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693723 | Frame_Shift_Del | TT | - | p.690_690del |
| THCA | TCGA-DJ-A3VD-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| UCEC | TCGA-BG-A18B-01 | exon_skip_112953 | 45693121 | 45693949 | 45693722 | 45693722 | Frame_Shift_Del | T | - | p.S690fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_112953 | 45693121 | 45693949 | 45693813 | 45693813 | Frame_Shift_Del | T | - | p.K659fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112953 | 45693121 | 45693949 | 45693838 | 45693838 | Frame_Shift_Del | A | - | p.L651fs |
| THCA | TCGA-EM-A22O-01 | exon_skip_112953 | 45693121 | 45693949 | 45693947 | 45693947 | Frame_Shift_Del | T | - | p.T615fs |
| THCA | TCGA-EM-A22O-01 | exon_skip_112953 | 45693121 | 45693949 | 45693947 | 45693947 | Frame_Shift_Del | T | - | p.T616fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_112954 | 45696866 | 45697017 | 45696945 | 45696945 | Frame_Shift_Del | T | - | p.N556fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112958 | 45701936 | 45702023 | 45701950 | 45701950 | Frame_Shift_Del | A | - | p.F474fs |
| COAD | TCGA-AA-3663-01 | exon_skip_112965 | 45711237 | 45711721 | 45711241 | 45711241 | Frame_Shift_Del | T | - | p.N380fs |
| COAD | TCGA-AM-5820-01 | exon_skip_112965 | 45711237 | 45711721 | 45711241 | 45711241 | Frame_Shift_Del | T | - | p.N380fs |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_112965 | 45711237 | 45711721 | 45711241 | 45711241 | Frame_Shift_Del | T | - | p.N380fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_112965 | 45711237 | 45711721 | 45711266 | 45711266 | Frame_Shift_Del | T | - | p.T372fs |
| PRAD | TCGA-G9-6379-01 | exon_skip_112965 | 45711237 | 45711721 | 45711597 | 45711601 | Frame_Shift_Del | AGTGG | - | p.TT260fs |
| STAD | TCGA-BR-6458-01 | exon_skip_112965 | 45711237 | 45711721 | 45711613 | 45711614 | Frame_Shift_Del | CT | - | p.256_256del |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_112965 | 45711237 | 45711721 | 45711691 | 45711691 | Frame_Shift_Del | T | - | p.N230fs |
| ACC | TCGA-OR-A5J5-01 | exon_skip_112967 | 45715946 | 45716580 | 45716019 | 45716019 | Frame_Shift_Del | T | - | p.L158fs |
| ESCA | TCGA-L5-A43J-01 | exon_skip_112967 | 45715946 | 45716580 | 45716019 | 45716019 | Frame_Shift_Del | T | - | p.K157fs |
| COAD | TCGA-CM-5861-01 | exon_skip_112967 | 45715946 | 45716580 | 45716294 | 45716294 | Frame_Shift_Del | T | - | p.M66fs |
| PAAD | TCGA-H6-8124-01 | exon_skip_112967 | 45715946 | 45716580 | 45716018 | 45716019 | Frame_Shift_Ins | - | T | p.NA157fs |
| SKCM | TCGA-HR-A2OH-06 | exon_skip_112967 | 45715946 | 45716580 | 45716018 | 45716019 | Frame_Shift_Ins | - | T | p.NA157fs |
| THCA | TCGA-EL-A3MZ-01 | exon_skip_112967 | 45715946 | 45716580 | 45716018 | 45716019 | Frame_Shift_Ins | - | T | p.NA157fs |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_112953 | 45693121 | 45693949 | 45693269 | 45693269 | Nonsense_Mutation | C | A | p.E841* |
| UCEC | TCGA-AP-A0LM-01 | exon_skip_112953 | 45693121 | 45693949 | 45693323 | 45693323 | Nonsense_Mutation | C | A | p.E823* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-L5-A4OI-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_112965 | |
| Skipped exon start: 45711237 | |
| Skipped exon end: 45711721 | |
| Mutation start: 45711241 | |
| Mutation end: 45711241 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.N380fs | |
exon_skip_112640_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_112965_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_122690_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_129706_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135696_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135704_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_135820_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_147024_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_149455_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_307491_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308211_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_308974_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_309972_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_311841_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_328488_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_349475_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_352933_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374468_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_374469_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_386802_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_423582_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_428975_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_434375_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439047_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_439048_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_441654_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443160_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_443161_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_457940_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_461524_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470470_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_470694_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_474097_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_477308_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_487634_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_495456_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_502537_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_506535_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_55351_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_77217_ESCA_TCGA-L5-A4OI-01.png | |
exon_skip_91288_ESCA_TCGA-L5-A4OI-01.png | |
 | Sample: TCGA-BR-6458-01 |
| Cancer type: STAD | |
| ESID: exon_skip_112965 | |
| Skipped exon start: 45711237 | |
| Skipped exon end: 45711721 | |
| Mutation start: 45711613 | |
| Mutation end: 45711614 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: CT | |
| Mutation seq: - | |
| AAchange: p.256_256del | |
exon_skip_112965_STAD_TCGA-BR-6458-01.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 |
| LS180_LARGE_INTESTINE | 45693121 | 45693949 | 45693722 | 45693723 | Frame_Shift_Del | TT | - | p.S690fs |
| CAL51_BREAST | 45711237 | 45711721 | 45711241 | 45711241 | Frame_Shift_Del | T | - | p.N380fs |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45711237 | 45711721 | 45711241 | 45711241 | Frame_Shift_Del | T | - | p.N380fs |
| SNGM_ENDOMETRIUM | 45711237 | 45711721 | 45711305 | 45711305 | Frame_Shift_Del | T | - | p.R359fs |
| CW2_LARGE_INTESTINE | 45711237 | 45711721 | 45711240 | 45711241 | Frame_Shift_Ins | - | T | p.N380fs |
| RKO_LARGE_INTESTINE | 45711237 | 45711721 | 45711684 | 45711685 | Frame_Shift_Ins | - | A | p.L232fs |
| CL34_LARGE_INTESTINE | 45715946 | 45716580 | 45716018 | 45716019 | Frame_Shift_Ins | - | TT | p.L158fs |
| CAS1_CENTRAL_NERVOUS_SYSTEM | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| HEC1A_ENDOMETRIUM | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| LN428_CENTRAL_NERVOUS_SYSTEM | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| MDAMB415_BREAST | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| MDST8_LARGE_INTESTINE | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| NCIH661_LUNG | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| OVTOKO_OVARY | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| PANC0504_PANCREAS | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| SNU410_PANCREAS | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| SNUC5_LARGE_INTESTINE | 45715946 | 45716580 | 45716396 | 45716397 | Frame_Shift_Ins | - | A | p.D32fs |
| BFTC905_URINARY_TRACT | 45693121 | 45693949 | 45693358 | 45693366 | In_Frame_Del | CTTGTGTTT | - | p.RNT808del |
| HEC265_ENDOMETRIUM | 45686222 | 45686382 | 45686294 | 45686294 | Missense_Mutation | A | T | p.F977L |
| CP66MEL_SKIN | 45686222 | 45686382 | 45686332 | 45686332 | Missense_Mutation | C | T | p.V965M |
| MDAMB436_BREAST | 45686222 | 45686382 | 45686350 | 45686350 | Missense_Mutation | T | G | p.I959L |
| HEC251_ENDOMETRIUM | 45693121 | 45693949 | 45693125 | 45693125 | Missense_Mutation | G | T | p.H889N |
| HEC1_ENDOMETRIUM | 45693121 | 45693949 | 45693141 | 45693141 | Missense_Mutation | C | A | p.K883N |
| OVK18_OVARY | 45693121 | 45693949 | 45693190 | 45693190 | Missense_Mutation | G | A | p.P867L |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45693121 | 45693949 | 45693309 | 45693309 | Missense_Mutation | T | A | p.E827D |
| BEN_LUNG | 45693121 | 45693949 | 45693338 | 45693338 | Missense_Mutation | C | G | p.E818Q |
| HCC2450_LUNG | 45693121 | 45693949 | 45693398 | 45693398 | Missense_Mutation | C | G | p.E798Q |
| OCILY3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45693121 | 45693949 | 45693422 | 45693422 | Missense_Mutation | T | C | p.K790E |
| OELE_OVARY | 45693121 | 45693949 | 45693484 | 45693484 | Missense_Mutation | G | C | p.P769R |
| HEC108_ENDOMETRIUM | 45693121 | 45693949 | 45693512 | 45693512 | Missense_Mutation | T | C | p.M760V |
| HCT15_LARGE_INTESTINE | 45693121 | 45693949 | 45693518 | 45693518 | Missense_Mutation | C | T | p.V758I |
| LN18_CENTRAL_NERVOUS_SYSTEM | 45693121 | 45693949 | 45693599 | 45693599 | Missense_Mutation | G | C | p.L731V |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45693121 | 45693949 | 45693619 | 45693619 | Missense_Mutation | C | T | p.R724Q |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45693121 | 45693949 | 45693664 | 45693664 | Missense_Mutation | T | C | p.K709R |
| HEC108_ENDOMETRIUM | 45693121 | 45693949 | 45693688 | 45693688 | Missense_Mutation | T | C | p.N701S |
| JEG3_PLACENTA | 45696866 | 45697017 | 45696878 | 45696878 | Missense_Mutation | G | C | p.D578E |
| HUT102_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45696866 | 45697017 | 45696918 | 45696918 | Missense_Mutation | T | A | p.D565V |
| GP2D_LARGE_INTESTINE | 45696866 | 45697017 | 45696944 | 45696944 | Missense_Mutation | A | C | p.N556K |
| GP5D_LARGE_INTESTINE | 45696866 | 45697017 | 45696944 | 45696944 | Missense_Mutation | A | C | p.N556K |
| MERO48A_LUNG | 45696866 | 45697017 | 45696957 | 45696957 | Missense_Mutation | C | G | p.S552T |
| LNCAPCLONEFGC_PROSTATE | 45701936 | 45702023 | 45701961 | 45701961 | Missense_Mutation | T | G | p.I471L |
| AM38_CENTRAL_NERVOUS_SYSTEM | 45701936 | 45702023 | 45702015 | 45702015 | Missense_Mutation | T | C | p.N453D |
| KIJK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45705017 | 45705147 | 45705103 | 45705103 | Missense_Mutation | C | T | p.R421Q |
| HCC2998_LARGE_INTESTINE | 45705017 | 45705147 | 45705110 | 45705110 | Missense_Mutation | T | G | p.I419L |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45711237 | 45711721 | 45711256 | 45711256 | Missense_Mutation | T | A | p.N375I |
| JHUEM7_ENDOMETRIUM | 45711237 | 45711721 | 45711277 | 45711277 | Missense_Mutation | C | A | p.R368I |
| IGROV1_OVARY | 45711237 | 45711721 | 45711463 | 45711463 | Missense_Mutation | C | T | p.S306N |
| SNU81_LARGE_INTESTINE | 45711237 | 45711721 | 45711689 | 45711689 | Missense_Mutation | A | C | p.F231V |
| NCIH2141_LUNG | 45715946 | 45716580 | 45715963 | 45715963 | Missense_Mutation | T | C | p.D176G |
| LNCAPCLONEFGC_PROSTATE | 45715946 | 45716580 | 45715989 | 45715989 | Missense_Mutation | C | A | p.K167N |
| T98G_CENTRAL_NERVOUS_SYSTEM | 45715946 | 45716580 | 45716023 | 45716023 | Missense_Mutation | T | A | p.K156I |
| HUCCT1_BILIARY_TRACT | 45715946 | 45716580 | 45716030 | 45716030 | Missense_Mutation | C | G | p.E154Q |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45715946 | 45716580 | 45716070 | 45716070 | Missense_Mutation | C | A | p.Q140H |
| HCC2450_LUNG | 45715946 | 45716580 | 45716110 | 45716110 | Missense_Mutation | T | A | p.Q127L |
| MOLM16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45715946 | 45716580 | 45716111 | 45716111 | Missense_Mutation | G | C | p.Q127E |
| MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 45715946 | 45716580 | 45716111 | 45716111 | Missense_Mutation | G | C | p.Q127E |
| PK1_PANCREAS | 45715946 | 45716580 | 45716111 | 45716111 | Missense_Mutation | G | C | p.Q127E |
| HO1N1_UPPER_AERODIGESTIVE_TRACT | 45715946 | 45716580 | 45716111 | 45716111 | Missense_Mutation | G | C | p.Q127E |
| SNU81_LARGE_INTESTINE | 45715946 | 45716580 | 45716144 | 45716144 | Missense_Mutation | G | T | p.L116I |
| SNU81_LARGE_INTESTINE | 45715946 | 45716580 | 45716194 | 45716194 | Missense_Mutation | T | G | p.K99T |
| SNU1040_LARGE_INTESTINE | 45715946 | 45716580 | 45716249 | 45716249 | Missense_Mutation | T | C | p.T81A |
| PRECLH_PROSTATE | 45715946 | 45716580 | 45716255 | 45716255 | Missense_Mutation | T | G | p.M79L |
| HCT15_LARGE_INTESTINE | 45715946 | 45716580 | 45716326 | 45716326 | Missense_Mutation | A | C | p.L55W |
| K029AX_SKIN | 45715946 | 45716580 | 45716350 | 45716350 | Missense_Mutation | T | C | p.K47R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MIS18BP1 |
| 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 MIS18BP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MIS18BP1 |
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RelatedDrugs for MIS18BP1 |
| 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 MIS18BP1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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