|
||||||
|
 | |
| |
| |
| |
| Open reading frame (ORF) annotation in the exon skipping event |
| |
| |
| Splicing Quantitative Trait Loci (sQTLs) in the skipped exons |
| Splicing Quantitative Trait Methylation (sQTM) in the skipped exon |
| |
|
Gene summary for MYO1E |
 Gene summary |
| Gene information | Gene symbol | MYO1E | Gene ID | 4643 |
| Gene name | myosin IE | |
| Synonyms | FSGS6|HuncM-IC|MYO1C | |
| Cytomap | 15q22.2 | |
| Type of gene | protein-coding | |
| Description | unconventional myosin-IeMYO1E variant proteinmyosin-ICunconventional myosin 1E | |
| Modification date | 20180519 | |
| UniProtAcc | Q12965 | |
| Context | PubMed: MYO1E [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 |
Top |
Exon skipping events across known transcript of Ensembl for MYO1E 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. |
 |
Top |
Gene isoform structures and expression levels for MYO1E |
| Expression levels of gene isoforms across TCGA. |
 |
| Expression levels of gene isoforms across GTEx. |
 |
Top |
Exon skipping events with PSIs in TCGA for MYO1E |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127641 | 15 | 59445788:59445990:59450485:59450578:59453271:59453429 | 59450485:59450578 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127642 | 15 | 59450485:59450578:59453271:59453429:59455355:59455502 | 59453271:59453429 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127643 | 15 | 59453271:59453429:59455355:59455502:59464095:59464241 | 59455355:59455502 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127645 | 15 | 59470622:59470736:59480316:59480415:59487659:59487766 | 59480316:59480415 | ENSG00000157483.4 | ENST00000558182.1,ENST00000288235.4 |
| exon_skip_127646 | 15 | 59501007:59501047:59502712:59502799:59506426:59506513 | 59502712:59502799 | ENSG00000157483.4 | ENST00000559489.1,ENST00000288235.4 |
| exon_skip_127647 | 15 | 59502712:59502799:59506426:59506513:59506838:59506919 | 59506426:59506513 | ENSG00000157483.4 | ENST00000559489.1,ENST00000288235.4 |
| exon_skip_127650 | 15 | 59506426:59506513:59506838:59506919:59510089:59510286 | 59506838:59506919 | ENSG00000157483.4 | ENST00000559489.1,ENST00000288235.4 |
| exon_skip_127652 | 15 | 59506838:59506919:59510089:59510286:59515257:59515390 | 59510089:59510286 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127653 | 15 | 59510089:59510286:59515257:59515390:59516887:59517022 | 59515257:59515390 | ENSG00000157483.4 | ENST00000559269.1,ENST00000288235.4 |
| exon_skip_127654 | 15 | 59516887:59517022:59519657:59519789:59523900:59523990 | 59519657:59519789 | ENSG00000157483.4 | ENST00000558814.1,ENST00000288235.4 |
| exon_skip_127656 | 15 | 59523900:59523990:59528783:59528871:59548482:59548577 | 59528783:59528871 | ENSG00000157483.4 | ENST00000558814.1,ENST00000288235.4 |
| PSI values of skipped exons in TCGA. |
 |
Top |
Exon skipping events with PSIs in GTEx for MYO1E |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_127641 | 15 | 59445788:59445990:59450485:59450578:59453271:59453429 | 59450485:59450578 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127642 | 15 | 59450485:59450578:59453271:59453429:59455355:59455502 | 59453271:59453429 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127643 | 15 | 59453271:59453429:59455355:59455502:59464095:59464241 | 59455355:59455502 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127645 | 15 | 59470622:59470736:59480316:59480415:59487659:59487766 | 59480316:59480415 | ENSG00000157483.4 | ENST00000288235.4,ENST00000558182.1 |
| exon_skip_127646 | 15 | 59501007:59501047:59502712:59502799:59506426:59506513 | 59502712:59502799 | ENSG00000157483.4 | ENST00000288235.4,ENST00000559489.1 |
| exon_skip_127647 | 15 | 59502712:59502799:59506426:59506513:59506838:59506919 | 59506426:59506513 | ENSG00000157483.4 | ENST00000288235.4,ENST00000559489.1 |
| exon_skip_127650 | 15 | 59506426:59506513:59506838:59506919:59510089:59510286 | 59506838:59506919 | ENSG00000157483.4 | ENST00000288235.4,ENST00000559489.1 |
| exon_skip_127652 | 15 | 59506838:59506919:59510089:59510286:59515257:59515390 | 59510089:59510286 | ENSG00000157483.4 | ENST00000288235.4 |
| exon_skip_127653 | 15 | 59510089:59510286:59515257:59515390:59516887:59517022 | 59515257:59515390 | ENSG00000157483.4 | ENST00000288235.4,ENST00000559269.1 |
| exon_skip_127654 | 15 | 59516887:59517022:59519657:59519789:59523900:59523990 | 59519657:59519789 | ENSG00000157483.4 | ENST00000288235.4,ENST00000558814.1 |
| exon_skip_127656 | 15 | 59523900:59523990:59528783:59528871:59548482:59548577 | 59528783:59528871 | ENSG00000157483.4 | ENST00000288235.4,ENST00000558814.1 |
| PSI values of skipped exons in GTEx. |
 |
| * Skipped exon sequences. |
Top |
Open reading frame (ORF) annotation in the exon skipping event for MYO1E |
| 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 |
| ENST00000288235 | 59453271 | 59453429 | Frame-shift |
| ENST00000288235 | 59510089 | 59510286 | Frame-shift |
| ENST00000288235 | 59515257 | 59515390 | Frame-shift |
| ENST00000288235 | 59528783 | 59528871 | Frame-shift |
| ENST00000288235 | 59450485 | 59450578 | In-frame |
| ENST00000288235 | 59455355 | 59455502 | In-frame |
| ENST00000288235 | 59480316 | 59480415 | In-frame |
| ENST00000288235 | 59502712 | 59502799 | In-frame |
| ENST00000288235 | 59506426 | 59506513 | In-frame |
| ENST00000288235 | 59506838 | 59506919 | In-frame |
| ENST00000288235 | 59519657 | 59519789 | 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 |
| ENST00000288235 | 59453271 | 59453429 | Frame-shift |
| ENST00000288235 | 59510089 | 59510286 | Frame-shift |
| ENST00000288235 | 59515257 | 59515390 | Frame-shift |
| ENST00000288235 | 59528783 | 59528871 | Frame-shift |
| ENST00000288235 | 59450485 | 59450578 | In-frame |
| ENST00000288235 | 59455355 | 59455502 | In-frame |
| ENST00000288235 | 59480316 | 59480415 | In-frame |
| ENST00000288235 | 59502712 | 59502799 | In-frame |
| ENST00000288235 | 59506426 | 59506513 | In-frame |
| ENST00000288235 | 59506838 | 59506919 | In-frame |
| ENST00000288235 | 59519657 | 59519789 | In-frame |
Top |
Infer the effects of exon skipping event on protein functional features for MYO1E |
| Exon skipping at the protein sequence level and followed lost functional features. * Click on the image to enlarge it in a new window. |
 |
| 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 |
| ENST00000288235 | 6210 | 1108 | 59519657 | 59519789 | 911 | 1042 | 170 | 214 |
| ENST00000288235 | 6210 | 1108 | 59506838 | 59506919 | 1508 | 1588 | 369 | 396 |
| ENST00000288235 | 6210 | 1108 | 59506426 | 59506513 | 1589 | 1675 | 396 | 425 |
| ENST00000288235 | 6210 | 1108 | 59502712 | 59502799 | 1676 | 1762 | 425 | 454 |
| ENST00000288235 | 6210 | 1108 | 59480316 | 59480415 | 2206 | 2304 | 602 | 634 |
| ENST00000288235 | 6210 | 1108 | 59455355 | 59455502 | 2881 | 3027 | 827 | 875 |
| ENST00000288235 | 6210 | 1108 | 59450485 | 59450578 | 3186 | 3278 | 928 | 959 |
| 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 |
| ENST00000288235 | 6210 | 1108 | 59519657 | 59519789 | 911 | 1042 | 170 | 214 |
| ENST00000288235 | 6210 | 1108 | 59506838 | 59506919 | 1508 | 1588 | 369 | 396 |
| ENST00000288235 | 6210 | 1108 | 59506426 | 59506513 | 1589 | 1675 | 396 | 425 |
| ENST00000288235 | 6210 | 1108 | 59502712 | 59502799 | 1676 | 1762 | 425 | 454 |
| ENST00000288235 | 6210 | 1108 | 59480316 | 59480415 | 2206 | 2304 | 602 | 634 |
| ENST00000288235 | 6210 | 1108 | 59455355 | 59455502 | 2881 | 3027 | 827 | 875 |
| ENST00000288235 | 6210 | 1108 | 59450485 | 59450578 | 3186 | 3278 | 928 | 959 |
| 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 |
| Q12965 | 170 | 214 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 170 | 214 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 170 | 214 | 185 | 185 | Natural variant | ID=VAR_065959;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21756023;Dbxref=dbSNP:rs141565214,PMID:21756023 |
| Q12965 | 369 | 396 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 369 | 396 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 396 | 425 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 396 | 425 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 425 | 454 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 425 | 454 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 602 | 634 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 602 | 634 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 827 | 875 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 827 | 875 | 730 | 922 | Domain | Note=TH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01093 |
| Q12965 | 928 | 959 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| 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 |
| Q12965 | 170 | 214 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 170 | 214 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 170 | 214 | 185 | 185 | Natural variant | ID=VAR_065959;Note=D->G;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:21756023;Dbxref=dbSNP:rs141565214,PMID:21756023 |
| Q12965 | 369 | 396 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 369 | 396 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 396 | 425 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 396 | 425 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 425 | 454 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 425 | 454 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 602 | 634 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 602 | 634 | 19 | 692 | Domain | Note=Myosin motor;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00782 |
| Q12965 | 827 | 875 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
| Q12965 | 827 | 875 | 730 | 922 | Domain | Note=TH1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU01093 |
| Q12965 | 928 | 959 | 1 | 1108 | Chain | ID=PRO_0000123450;Note=Unconventional myosin-Ie |
Top |
SNVs in the skipped exons for MYO1E |
| - Lollipop plot for presenting exon skipping associated SNVs. * Click on the image to enlarge it in a new window. |
 |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_127647 | 59506427 | 59506513 | 59506454 | 59506454 | Frame_Shift_Del | A | - | p.F416fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_127647 | 59506427 | 59506513 | 59506469 | 59506469 | Frame_Shift_Del | T | - | p.K411fs |
| STAD | TCGA-BR-6452-01 | exon_skip_127647 | 59506427 | 59506513 | 59506509 | 59506509 | Frame_Shift_Del | T | - | p.N398fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_127650 | 59506839 | 59506919 | 59506905 | 59506905 | Frame_Shift_Del | G | - | p.A374fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_127652 | 59510090 | 59510286 | 59510199 | 59510199 | Frame_Shift_Del | C | - | p.G334fs |
| LUAD | TCGA-17-Z026-01 | exon_skip_127645 | 59480317 | 59480415 | 59480399 | 59480399 | Nonsense_Mutation | C | A | p.E608* |
| THYM | TCGA-YT-A95F-01 | exon_skip_127650 | 59506839 | 59506919 | 59506881 | 59506881 | Nonsense_Mutation | G | T | p.Y382X |
| DLBC | TCGA-FA-A7Q1-01 | exon_skip_127650 | 59506839 | 59506919 | 59506886 | 59506886 | Nonsense_Mutation | C | A | p.E381X |
| READ | TCGA-F5-6814-01 | exon_skip_127652 | 59510090 | 59510286 | 59510236 | 59510236 | Nonsense_Mutation | C | A | p.E321X |
| - 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 |
| RCCMF_KIDNEY | 59450486 | 59450578 | 59450571 | 59450571 | Frame_Shift_Del | G | - | p.T931fs |
| GP2D_LARGE_INTESTINE | 59455356 | 59455502 | 59455481 | 59455481 | Frame_Shift_Del | A | - | p.F834fs |
| GP5D_LARGE_INTESTINE | 59455356 | 59455502 | 59455481 | 59455481 | Frame_Shift_Del | A | - | p.F834fs |
| MFE319_ENDOMETRIUM | 59506427 | 59506513 | 59506509 | 59506509 | Frame_Shift_Del | T | - | p.N398fs |
| SNU407_LARGE_INTESTINE | 59528784 | 59528871 | 59528849 | 59528849 | Frame_Shift_Del | T | - | p.T119fs |
| SNU1040_LARGE_INTESTINE | 59528784 | 59528871 | 59528849 | 59528849 | Frame_Shift_Del | T | - | p.T119fs |
| PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59453272 | 59453429 | 59453343 | 59453343 | Missense_Mutation | T | C | p.D905G |
| NUGC4_STOMACH | 59455356 | 59455502 | 59455498 | 59455498 | Missense_Mutation | T | C | p.M829V |
| C33A_CERVIX | 59480317 | 59480415 | 59480342 | 59480342 | Missense_Mutation | G | A | p.R627C |
| U698M_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59506839 | 59506919 | 59506853 | 59506853 | Missense_Mutation | A | G | p.F392L |
| NK92MI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59506839 | 59506919 | 59506914 | 59506914 | Missense_Mutation | G | C | p.I371M |
| HEL9217_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59510090 | 59510286 | 59510112 | 59510112 | Missense_Mutation | C | T | p.R362Q |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59510090 | 59510286 | 59510112 | 59510112 | Missense_Mutation | C | T | p.R362Q |
| HEL_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59510090 | 59510286 | 59510112 | 59510112 | Missense_Mutation | C | T | p.R362Q |
| NB13_AUTONOMIC_GANGLIA | 59510090 | 59510286 | 59510124 | 59510124 | Missense_Mutation | G | A | p.A358V |
| SNU1040_LARGE_INTESTINE | 59510090 | 59510286 | 59510131 | 59510131 | Missense_Mutation | C | T | p.A356T |
| NCIH1703_LUNG | 59515258 | 59515390 | 59515279 | 59515279 | Missense_Mutation | C | A | p.A297S |
| NCIH1651_LUNG | 59515258 | 59515390 | 59515326 | 59515326 | Missense_Mutation | C | A | p.G281V |
| NCIH1651_LUNG | 59515258 | 59515390 | 59515326 | 59515327 | Missense_Mutation | CC | AA | p.G281F |
| NCIH1651_LUNG | 59515258 | 59515390 | 59515327 | 59515327 | Missense_Mutation | C | A | p.G281C |
| EN_ENDOMETRIUM | 59515258 | 59515390 | 59515377 | 59515377 | Missense_Mutation | A | G | p.V264A |
| CCK81_LARGE_INTESTINE | 59519658 | 59519789 | 59519680 | 59519680 | Missense_Mutation | C | T | p.R207Q |
| KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 59528784 | 59528871 | 59528835 | 59528835 | Missense_Mutation | T | G | p.K123N |
| PCI6A_UPPER_AERODIGESTIVE_TRACT | 59528784 | 59528871 | 59528837 | 59528837 | Missense_Mutation | T | C | p.K123E |
| HT29_LARGE_INTESTINE | 59450486 | 59450578 | 59450487 | 59450488 | Splice_Site | - | G | p.P959fs |
| CAL12T_LUNG | 59506839 | 59506919 | 59506919 | 59506920 | Splice_Site | - | AT | p.S370fs |
| HS821T_FIBROBLAST | 59506839 | 59506919 | 59506919 | 59506920 | Splice_Site | - | AT | p.S370fs |
Top |
Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MYO1E |
| 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 |
Top |
Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO1E |
Top |
Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MYO1E |
Top |
RelatedDrugs for MYO1E |
| 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 |
Top |
RelatedDiseases for MYO1E |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MYO1E | C3279905 | FOCAL SEGMENTAL GLOMERULOSCLEROSIS 6 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
|