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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 MYBL1 |
 Gene summary |
| Gene information | Gene symbol | MYBL1 | Gene ID | 4603 |
| Gene name | MYB proto-oncogene like 1 | |
| Synonyms | A-MYB|AMYB | |
| Cytomap | 8q13.1 | |
| Type of gene | protein-coding | |
| Description | myb-related protein Amyb-like protein 1v-myb avian myeloblastosis viral oncogene homolog-like 1 | |
| Modification date | 20180523 | |
| UniProtAcc | P10243 | |
| Context | PubMed: MYBL1 [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 |
| MYBL1 | GO:0045944 | positive regulation of transcription by RNA polymerase II | 7987850 |
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Exon skipping events across known transcript of Ensembl for MYBL1 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 MYBL1 |
| 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 MYBL1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490104 | 8 | 67476935:67477060:67478298:67478478:67478918:67479023 | 67478298:67478478 | ENSG00000185697.12 | ENST00000522677.3,ENST00000517885.1 |
| exon_skip_490105 | 8 | 67485598:67485741:67488241:67488610:67492367:67492598 | 67488241:67488610 | ENSG00000185697.12 | ENST00000522677.3,ENST00000524176.2 |
| exon_skip_490108 | 8 | 67511284:67511377:67513932:67514004:67514652:67514758 | 67513932:67514004 | ENSG00000185697.12 | ENST00000518079.1,ENST00000522677.3,ENST00000517885.1,ENST00000524176.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MYBL1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490104 | 8 | 67476935:67477060:67478298:67478478:67478918:67479023 | 67478298:67478478 | ENSG00000185697.12 | ENST00000522677.3,ENST00000517885.1 |
| exon_skip_490105 | 8 | 67485598:67485741:67488241:67488610:67492367:67492598 | 67488241:67488610 | ENSG00000185697.12 | ENST00000522677.3,ENST00000524176.2 |
| 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 MYBL1 |
| 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 |
| ENST00000522677 | 67478298 | 67478478 | In-frame |
| ENST00000522677 | 67488241 | 67488610 | In-frame |
| ENST00000522677 | 67513932 | 67514004 | 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 |
| ENST00000522677 | 67478298 | 67478478 | In-frame |
| ENST00000522677 | 67488241 | 67488610 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MYBL1 |
| 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 |
| ENST00000522677 | 5209 | 752 | 67513932 | 67514004 | 538 | 609 | 42 | 66 |
| ENST00000522677 | 5209 | 752 | 67488241 | 67488610 | 1513 | 1881 | 367 | 490 |
| ENST00000522677 | 5209 | 752 | 67478298 | 67478478 | 2362 | 2541 | 650 | 710 |
| 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 |
| ENST00000522677 | 5209 | 752 | 67488241 | 67488610 | 1513 | 1881 | 367 | 490 |
| ENST00000522677 | 5209 | 752 | 67478298 | 67478478 | 2362 | 2541 | 650 | 710 |
| 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 |
| P10243 | 42 | 66 | 1 | 752 | Chain | ID=PRO_0000197054;Note=Myb-related protein A |
| P10243 | 42 | 66 | 58 | 81 | DNA binding | Note=H-T-H motif;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00625 |
| P10243 | 42 | 66 | 30 | 81 | Domain | Note=HTH myb-type 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00625 |
| P10243 | 367 | 490 | 1 | 752 | Chain | ID=PRO_0000197054;Note=Myb-related protein A |
| P10243 | 367 | 490 | 394 | 394 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P10243 | 367 | 490 | 298 | 553 | Region | Note=Negative regulatory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P10243 | 650 | 710 | 650 | 709 | Alternative sequence | ID=VSP_042912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P10243 | 650 | 710 | 1 | 752 | Chain | ID=PRO_0000197054;Note=Myb-related protein A |
| 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 |
| P10243 | 367 | 490 | 1 | 752 | Chain | ID=PRO_0000197054;Note=Myb-related protein A |
| P10243 | 367 | 490 | 394 | 394 | Modified residue | Note=N6-acetyllysine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:19608861;Dbxref=PMID:19608861 |
| P10243 | 367 | 490 | 298 | 553 | Region | Note=Negative regulatory domain;Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P10243 | 650 | 710 | 650 | 709 | Alternative sequence | ID=VSP_042912;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15489334;Dbxref=PMID:15489334 |
| P10243 | 650 | 710 | 1 | 752 | Chain | ID=PRO_0000197054;Note=Myb-related protein A |
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SNVs in the skipped exons for MYBL1 |
| - 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. |
| - 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 |
| ESCA | TCGA-L5-A43J-01 | exon_skip_490105 | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490105 | 67488242 | 67488610 | 67488461 | 67488461 | Frame_Shift_Del | C | - | p.G417fs |
| STAD | TCGA-R5-A7ZI-01 | exon_skip_490105 | 67488242 | 67488610 | 67488604 | 67488604 | Frame_Shift_Del | C | - | p.V370fs |
| STAD | TCGA-BR-6566-01 | exon_skip_490105 | 67488242 | 67488610 | 67488453 | 67488454 | Frame_Shift_Ins | - | T | p.N420fs |
| STAD | TCGA-HU-A4GT-01 | exon_skip_490105 | 67488242 | 67488610 | 67488453 | 67488454 | Frame_Shift_Ins | - | T | p.N420fs |
| BRCA | TCGA-D8-A27F-01 | exon_skip_490105 | 67488242 | 67488610 | 67488508 | 67488508 | Nonsense_Mutation | C | A | p.E402* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
| - 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 |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 67478299 | 67478478 | 67478467 | 67478468 | Frame_Shift_Del | TC | - | p.R654fs |
| 22RV1_PROSTATE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| SISO_CERVIX | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| HEC151_ENDOMETRIUM | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| SNUC2A_LARGE_INTESTINE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| HEC1A_ENDOMETRIUM | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| SNU407_LARGE_INTESTINE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| EN_ENDOMETRIUM | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| SNUC2B_LARGE_INTESTINE | 67488242 | 67488610 | 67488453 | 67488453 | Frame_Shift_Del | T | - | p.N420fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 67478299 | 67478478 | 67478464 | 67478465 | Frame_Shift_Ins | - | AG | p.F655fs |
| HEC59_ENDOMETRIUM | 67488242 | 67488610 | 67488452 | 67488453 | Frame_Shift_Ins | - | T | p.N420fs |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 67478299 | 67478478 | 67478306 | 67478306 | Missense_Mutation | T | C | p.N708S |
| 22RV1_PROSTATE | 67478299 | 67478478 | 67478340 | 67478340 | Missense_Mutation | G | A | p.P697S |
| BICR31_UPPER_AERODIGESTIVE_TRACT | 67478299 | 67478478 | 67478361 | 67478361 | Missense_Mutation | G | A | p.L690F |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67478299 | 67478478 | 67478379 | 67478379 | Missense_Mutation | T | C | p.T684A |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67478299 | 67478478 | 67478405 | 67478405 | Missense_Mutation | A | G | p.I675T |
| MONOMAC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67488242 | 67488610 | 67488265 | 67488265 | Missense_Mutation | T | C | p.T483A |
| MONOMAC6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 67488242 | 67488610 | 67488265 | 67488265 | Missense_Mutation | T | C | p.T483A |
| CORL279_LUNG | 67488242 | 67488610 | 67488276 | 67488276 | Missense_Mutation | G | A | p.T479I |
| OVK18_OVARY | 67488242 | 67488610 | 67488361 | 67488361 | Missense_Mutation | T | C | p.R451G |
| MCC13_SKIN | 67488242 | 67488610 | 67488414 | 67488414 | Missense_Mutation | G | A | p.T433I |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 67488242 | 67488610 | 67488484 | 67488484 | Missense_Mutation | T | A | p.N410Y |
| NCIH1568_LUNG | 67488242 | 67488610 | 67488568 | 67488568 | Missense_Mutation | C | A | p.D382Y |
| HCC2998_LARGE_INTESTINE | 67513933 | 67514004 | 67513997 | 67513997 | Missense_Mutation | T | G | p.K45T |
| SNU81_LARGE_INTESTINE | 67478299 | 67478478 | 67478381 | 67478381 | Nonsense_Mutation | G | T | p.S683* |
| A704_KIDNEY | 67478299 | 67478478 | 67478433 | 67478433 | Nonsense_Mutation | C | A | p.E666* |
| 451LU_SKIN | 67488242 | 67488610 | 67488242 | 67488242 | Splice_Site | C | T | p.Q490Q |
| CCK81_LARGE_INTESTINE | 67488242 | 67488610 | 67488243 | 67488243 | Splice_Site | T | C | p.Q490R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYBL1 |
| 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 MYBL1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYBL1 |
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RelatedDrugs for MYBL1 |
| 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 MYBL1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYBL1 | C0010606 | Adenoid Cystic Carcinoma | 1 | CTD_human |
| MYBL1 | C0017638 | Glioma | 1 | CTD_human |
| MYBL1 | C0032460 | Polycystic Ovary Syndrome | 1 | CTD_human |
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