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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 MKI67 |
 Gene summary |
| Gene information | Gene symbol | MKI67 | Gene ID | 4288 |
| Gene name | marker of proliferation Ki-67 | |
| Synonyms | KIA|MIB-|MIB-1|PPP1R105 | |
| Cytomap | 10q26.2 | |
| Type of gene | protein-coding | |
| Description | proliferation marker protein Ki-67antigen Ki67antigen identified by monoclonal antibody Ki-67proliferation-related Ki-67 antigenprotein phosphatase 1, regulatory subunit 105 | |
| Modification date | 20180527 | |
| UniProtAcc | P46013 | |
| Context | PubMed: MKI67 [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 |
| MKI67 | GO:0007088 | regulation of mitotic nuclear division | 27362226 |
| MKI67 | GO:0051983 | regulation of chromosome segregation | 27362226 |
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Exon skipping events across known transcript of Ensembl for MKI67 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 MKI67 |
| 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 MKI67 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54935 | 10 | 129911690:129911866:129913191:129914271:129914754:129914800 | 129913191:129914271 | ENSG00000148773.8 | ENST00000368654.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MKI67 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_54935 | 10 | 129911690:129911866:129913191:129914271:129914754:129914800 | 129913191:129914271 | ENSG00000148773.8 | ENST00000368654.3 |
| 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 MKI67 |
| 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 |
| ENST00000368654 | 129913191 | 129914271 | 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 |
| ENST00000368654 | 129913191 | 129914271 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MKI67 |
| 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 |
| ENST00000368654 | 12695 | 3256 | 129913191 | 129914271 | 777 | 1856 | 133 | 493 |
| 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 |
| ENST00000368654 | 12695 | 3256 | 129913191 | 129914271 | 777 | 1856 | 133 | 493 |
| 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 |
| P46013 | 133 | 493 | 136 | 495 | Alternative sequence | ID=VSP_004298;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8227122;Dbxref=PMID:8227122 |
| P46013 | 133 | 493 | 1 | 3256 | Chain | ID=PRO_0000084301;Note=Proliferation marker protein Ki-67 |
| P46013 | 133 | 493 | 245 | 245 | 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 |
| P46013 | 133 | 493 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 264 | 264 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P46013 | 133 | 493 | 296 | 296 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 308 | 308 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| P46013 | 133 | 493 | 328 | 328 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| P46013 | 133 | 493 | 347 | 347 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P46013 | 133 | 493 | 352 | 352 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46013 | 133 | 493 | 357 | 357 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMe |
| P46013 | 133 | 493 | 374 | 374 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 401 | 401 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P46013 | 133 | 493 | 411 | 411 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P46013 | 133 | 493 | 238 | 238 | Natural variant | ID=VAR_029056;Note=W->R;Dbxref=dbSNP:rs7095325 |
| 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 |
| P46013 | 133 | 493 | 136 | 495 | Alternative sequence | ID=VSP_004298;Note=In isoform Short. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:8227122;Dbxref=PMID:8227122 |
| P46013 | 133 | 493 | 1 | 3256 | Chain | ID=PRO_0000084301;Note=Proliferation marker protein Ki-67 |
| P46013 | 133 | 493 | 245 | 245 | 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 |
| P46013 | 133 | 493 | 166 | 166 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 264 | 264 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P46013 | 133 | 493 | 296 | 296 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 308 | 308 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMed:20068231,ECO:0000244|PubMed:21406692,ECO:0000244|PubMed:23186163;Dbxref=PMID:1 |
| P46013 | 133 | 493 | 328 | 328 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:16964243,PMID:18669648,PMID:23186163 |
| P46013 | 133 | 493 | 347 | 347 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:23186163;Dbxref=PMID:18669648,PMID:23186163 |
| P46013 | 133 | 493 | 352 | 352 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:21406692;Dbxref=PMID:21406692 |
| P46013 | 133 | 493 | 357 | 357 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:18220336,ECO:0000244|PubMed:18669648,ECO:0000244|PubMed:18691976,ECO:0000244|PubMe |
| P46013 | 133 | 493 | 374 | 374 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:E9PVX6 |
| P46013 | 133 | 493 | 401 | 401 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:18669648;Dbxref=PMID:18669648 |
| P46013 | 133 | 493 | 411 | 411 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| P46013 | 133 | 493 | 238 | 238 | Natural variant | ID=VAR_029056;Note=W->R;Dbxref=dbSNP:rs7095325 |
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SNVs in the skipped exons for MKI67 |
| - 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. |
MKI67_ESCA_exon_skip_54935_psi_boxplot.png |
MKI67_LUAD_exon_skip_54935_psi_boxplot.png |
MKI67_STAD_exon_skip_54935_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 |
| STAD | TCGA-CG-5721-01 | exon_skip_54935 | 129913192 | 129914271 | 129913250 | 129913250 | Frame_Shift_Del | C | - | p.C475fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_54935 | 129913192 | 129914271 | 129913269 | 129913269 | Frame_Shift_Del | C | - | p.G468fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_54935 | 129913192 | 129914271 | 129913274 | 129913274 | Frame_Shift_Del | T | - | p.K466fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_54935 | 129913192 | 129914271 | 129913338 | 129913338 | Frame_Shift_Del | A | - | p.L445fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_54935 | 129913192 | 129914271 | 129913422 | 129913422 | Frame_Shift_Del | T | - | p.N417fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_54935 | 129913192 | 129914271 | 129913486 | 129913486 | Frame_Shift_Del | A | - | p.S396fs |
| COAD | TCGA-A6-6654-01 | exon_skip_54935 | 129913192 | 129914271 | 129913718 | 129913718 | Frame_Shift_Del | C | - | p.K319fs |
| ESCA | TCGA-JY-A939-01 | exon_skip_54935 | 129913192 | 129914271 | 129913974 | 129913974 | Frame_Shift_Del | T | - | p.N233fs |
| KIRC | TCGA-B2-3924-01 | exon_skip_54935 | 129913192 | 129914271 | 129913974 | 129913974 | Frame_Shift_Del | T | - | p.N233fs |
| LUAD | TCGA-95-7567-01 | exon_skip_54935 | 129913192 | 129914271 | 129913973 | 129913974 | Frame_Shift_Ins | - | T | p.N233fs |
| LUAD | TCGA-95-7567-01 | exon_skip_54935 | 129913192 | 129914271 | 129913973 | 129913974 | Frame_Shift_Ins | - | T | p.R233fs |
| UCEC | TCGA-B5-A0K9-01 | exon_skip_54935 | 129913192 | 129914271 | 129913973 | 129913974 | Frame_Shift_Ins | - | T | p.N233fs |
| UCEC | TCGA-D1-A103-01 | exon_skip_54935 | 129913192 | 129914271 | 129913402 | 129913402 | Nonsense_Mutation | C | A | p.G424* |
| STAD | TCGA-VQ-AA6I-01 | exon_skip_54935 | 129913192 | 129914271 | 129913474 | 129913474 | Nonsense_Mutation | G | A | p.R400* |
| STAD | TCGA-VQ-AA6I-01 | exon_skip_54935 | 129913192 | 129914271 | 129913474 | 129913474 | Nonsense_Mutation | G | A | p.R400X |
| UCEC | TCGA-BS-A0TC-01 | exon_skip_54935 | 129913192 | 129914271 | 129913909 | 129913909 | Nonsense_Mutation | C | A | p.E255* |
| BLCA | TCGA-XF-AAMG-01 | exon_skip_54935 | 129913192 | 129914271 | 129913933 | 129913933 | Nonsense_Mutation | C | A | p.E247* |
| LUAD | TCGA-75-5126-01 | exon_skip_54935 | 129913192 | 129914271 | 129913972 | 129913972 | Nonsense_Mutation | C | A | p.E234* |
| BLCA | TCGA-FD-A6TC-01 | exon_skip_54935 | 129913192 | 129914271 | 129914118 | 129914118 | Nonsense_Mutation | G | C | p.S185* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-A6-6654-01 |
| Cancer type: COAD | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913718 | |
| Mutation end: 129913718 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.K319fs | |
exon_skip_54935_COAD_TCGA-A6-6654-01.png | |
 | Sample: TCGA-JY-A939-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913974 | |
| Mutation end: 129913974 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: T | |
| Mutation seq: - | |
| AAchange: p.N233fs | |
exon_skip_109771_ESCA_TCGA-JY-A939-01.png | |
exon_skip_148331_ESCA_TCGA-JY-A939-01.png | |
exon_skip_54935_ESCA_TCGA-JY-A939-01.png | |
 | Sample: TCGA-95-7567-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913973 | |
| Mutation end: 129913974 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.R233fs | |
| Sample: TCGA-95-7567-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913973 | |
| Mutation end: 129913974 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.N233fs | |
exon_skip_294084_LUAD_TCGA-95-7567-01.png | |
exon_skip_344952_LUAD_TCGA-95-7567-01.png | |
exon_skip_48473_LUAD_TCGA-95-7567-01.png | |
exon_skip_54935_LUAD_TCGA-95-7567-01.png | |
 | Sample: TCGA-CG-5721-01 |
| Cancer type: STAD | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913250 | |
| Mutation end: 129913250 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.C475fs | |
exon_skip_107493_STAD_TCGA-CG-5721-01.png | |
exon_skip_107867_STAD_TCGA-CG-5721-01.png | |
exon_skip_123973_STAD_TCGA-CG-5721-01.png | |
exon_skip_124728_STAD_TCGA-CG-5721-01.png | |
exon_skip_20583_STAD_TCGA-CG-5721-01.png | |
exon_skip_284550_STAD_TCGA-CG-5721-01.png | |
exon_skip_287086_STAD_TCGA-CG-5721-01.png | |
exon_skip_287092_STAD_TCGA-CG-5721-01.png | |
exon_skip_328008_STAD_TCGA-CG-5721-01.png | |
exon_skip_347989_STAD_TCGA-CG-5721-01.png | |
exon_skip_360357_STAD_TCGA-CG-5721-01.png | |
exon_skip_360359_STAD_TCGA-CG-5721-01.png | |
exon_skip_361242_STAD_TCGA-CG-5721-01.png | |
exon_skip_363554_STAD_TCGA-CG-5721-01.png | |
exon_skip_370065_STAD_TCGA-CG-5721-01.png | |
exon_skip_377240_STAD_TCGA-CG-5721-01.png | |
exon_skip_378735_STAD_TCGA-CG-5721-01.png | |
exon_skip_41850_STAD_TCGA-CG-5721-01.png | |
exon_skip_425098_STAD_TCGA-CG-5721-01.png | |
exon_skip_443908_STAD_TCGA-CG-5721-01.png | |
exon_skip_449553_STAD_TCGA-CG-5721-01.png | |
exon_skip_452918_STAD_TCGA-CG-5721-01.png | |
exon_skip_454809_STAD_TCGA-CG-5721-01.png | |
exon_skip_462689_STAD_TCGA-CG-5721-01.png | |
exon_skip_482821_STAD_TCGA-CG-5721-01.png | |
exon_skip_482822_STAD_TCGA-CG-5721-01.png | |
exon_skip_487878_STAD_TCGA-CG-5721-01.png | |
exon_skip_502793_STAD_TCGA-CG-5721-01.png | |
exon_skip_508189_STAD_TCGA-CG-5721-01.png | |
exon_skip_516607_STAD_TCGA-CG-5721-01.png | |
exon_skip_54935_STAD_TCGA-CG-5721-01.png | |
exon_skip_96977_STAD_TCGA-CG-5721-01.png | |
 | Sample: TCGA-B5-A0K9-01 |
| Cancer type: UCEC | |
| ESID: exon_skip_54935 | |
| Skipped exon start: 129913192 | |
| Skipped exon end: 129914271 | |
| Mutation start: 129913973 | |
| Mutation end: 129913974 | |
| Mutation type: Frame_Shift_Ins | |
| Reference seq: - | |
| Mutation seq: T | |
| AAchange: p.N233fs | |
exon_skip_101656_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_25134_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_295913_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_301201_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_319638_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321422_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321423_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_321427_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_32745_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_382168_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_420494_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_421737_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_438393_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_468121_UCEC_TCGA-B5-A0K9-01.png | |
exon_skip_54935_UCEC_TCGA-B5-A0K9-01.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 |
| RCCFG2_KIDNEY | 129913192 | 129914271 | 129913205 | 129913206 | Frame_Shift_Del | AA | - | p.F489fs |
| HEC59_ENDOMETRIUM | 129913192 | 129914271 | 129913439 | 129913440 | Frame_Shift_Del | AG | - | p.S411fs |
| SNUC4_LARGE_INTESTINE | 129913192 | 129914271 | 129913973 | 129913974 | Frame_Shift_Ins | - | T | p.N233fs |
| VMRCRCW_KIDNEY | 129913192 | 129914271 | 129913973 | 129913974 | Frame_Shift_Ins | - | T | p.N233fs |
| MLMA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129913192 | 129914271 | 129913226 | 129913231 | In_Frame_Del | ACTAAG | - | p.LS481del |
| DJM1_SKIN | 129913192 | 129914271 | 129913218 | 129913218 | Missense_Mutation | T | C | p.D485G |
| IGROV1_OVARY | 129913192 | 129914271 | 129913282 | 129913282 | Missense_Mutation | G | T | p.P464T |
| HEC59_ENDOMETRIUM | 129913192 | 129914271 | 129913290 | 129913290 | Missense_Mutation | A | T | p.L461H |
| JHUEM7_ENDOMETRIUM | 129913192 | 129914271 | 129913423 | 129913423 | Missense_Mutation | T | G | p.N417H |
| CHL1_SKIN | 129913192 | 129914271 | 129913444 | 129913444 | Missense_Mutation | C | T | p.D410N |
| HMCB_SKIN | 129913192 | 129914271 | 129913444 | 129913444 | Missense_Mutation | C | T | p.D410N |
| HT115_LARGE_INTESTINE | 129913192 | 129914271 | 129913473 | 129913473 | Missense_Mutation | C | T | p.R400Q |
| NCIH720_LUNG | 129913192 | 129914271 | 129913516 | 129913516 | Missense_Mutation | C | T | p.G386S |
| HT115_LARGE_INTESTINE | 129913192 | 129914271 | 129913606 | 129913606 | Missense_Mutation | T | G | p.N356H |
| HS746T_STOMACH | 129913192 | 129914271 | 129914032 | 129914032 | Missense_Mutation | G | A | p.R214C |
| COLO783_SKIN | 129913192 | 129914271 | 129914070 | 129914070 | Missense_Mutation | C | A | p.G201V |
| MDAMB361_BREAST | 129913192 | 129914271 | 129914094 | 129914094 | Missense_Mutation | C | T | p.R193K |
| PANC0403_PANCREAS | 129913192 | 129914271 | 129914178 | 129914178 | Missense_Mutation | T | C | p.D165G |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 129913192 | 129914271 | 129913474 | 129913474 | Nonsense_Mutation | G | A | p.R400* |
| HEC251_ENDOMETRIUM | 129913192 | 129914271 | 129913936 | 129913936 | Nonsense_Mutation | T | A | p.K246* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MKI67 |
| 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 MKI67 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MKI67 |
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RelatedDrugs for MKI67 |
| 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 MKI67 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MKI67 | C1458155 | Mammary Neoplasms | 3 | CTD_human |
| MKI67 | C0001418 | Adenocarcinoma | 1 | CTD_human |
| MKI67 | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| MKI67 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
| MKI67 | C0019189 | Hepatitis, Chronic | 1 | CTD_human |
| MKI67 | C0023893 | Liver Cirrhosis, Experimental | 1 | CTD_human |
| MKI67 | C0031117 | Peripheral Neuropathy | 1 | CTD_human |
| MKI67 | C0033860 | Psoriasis | 1 | CTD_human |
| MKI67 | C0206637 | Chondrosarcoma, Mesenchymal | 1 | CTD_human |
| MKI67 | C0919267 | ovarian neoplasm | 1 | CTD_human |
| MKI67 | C1876165 | Copper-Overload Cirrhosis | 1 | CTD_human |
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