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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 MECOM |
 Gene summary |
| Gene information | Gene symbol | MECOM | Gene ID | 2122 |
| Gene name | MDS1 and EVI1 complex locus | |
| Synonyms | AML1-EVI-1|EVI1|KMT8E|MDS1|MDS1-EVI1|PRDM3|RUSAT2 | |
| Cytomap | 3q26.2 | |
| Type of gene | protein-coding | |
| Description | MDS1 and EVI1 complex locus proteinMDS1 and EVI1 complex locus protein EVI1AML1-EVI-1 fusion proteinMDS1 and EVI1 complex locus protein MDS1PR domain 3ecotropic virus integration site 1 protein homologmyelodysplasia syndrome-associated protein 1onc | |
| Modification date | 20180522 | |
| UniProtAcc | Q03112 | |
| Context | PubMed: MECOM [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 |
| MECOM | GO:0045892 | negative regulation of transcription, DNA-templated | 10856240|11568182 |
| MECOM | GO:0045893 | positive regulation of transcription, DNA-templated | 11568182|19767769 |
| MECOM | GO:0051726 | regulation of cell cycle | 11568182 |
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Exon skipping events across known transcript of Ensembl for MECOM 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 MECOM |
| 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 MECOM |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389861 | 3 | 168802661:168802831:168804300:168804353:168806787:168806845 | 168804300:168804353 | ENSG00000085276.13 | ENST00000460814.1 |
| exon_skip_389863 | 3 | 168819847:168820014:168825713:168825740:168830574:168830662 | 168825713:168825740 | ENSG00000085276.13 | ENST00000264674.3,ENST00000392736.3,ENST00000472280.1,ENST00000433243.2,ENST00000468789.1 |
| exon_skip_389864 | 3 | 168819847:168820014:168830574:168830662:168833170:168833555 | 168830574:168830662 | ENSG00000085276.13 | ENST00000460814.1,ENST00000464456.1,ENST00000494292.1 |
| exon_skip_389870 | 3 | 168845832:168845848:168849216:168849319:168861485:168861620 | 168849216:168849319 | ENSG00000085276.13 | ENST00000494597.1,ENST00000464456.1,ENST00000264674.3,ENST00000484519.1,ENST00000392736.3,ENST00000494292.1,ENST00000487503.1,ENST00000472280.1,ENST00000433243.2,ENST00000481315.1,ENST00000468789.1,ENST00000460890.1 |
| exon_skip_389871 | 3 | 168849216:168849319:168851137:168851262:168861485:168861620 | 168851137:168851262 | ENSG00000085276.13 | ENST00000475754.1 |
| exon_skip_389872 | 3 | 168849216:168849319:168861485:168861620:169098974:169099312 | 168861485:168861620 | ENSG00000085276.13 | ENST00000494292.1 |
| exon_skip_389873 | 3 | 168861485:168861620:168862784:168862846:168863105:168864076 | 168862784:168862846 | ENSG00000085276.13 | ENST00000487503.1 |
| exon_skip_389882 | 3 | 169099046:169099312:169283756:169283828:169381123:169381178 | 169283756:169283828 | ENSG00000085276.13 | ENST00000486748.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for MECOM |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_389861 | 3 | 168802661:168802831:168804300:168804353:168806787:168806845 | 168804300:168804353 | ENSG00000085276.13 | ENST00000460814.1 |
| exon_skip_389863 | 3 | 168819847:168820014:168825713:168825740:168830574:168830662 | 168825713:168825740 | ENSG00000085276.13 | ENST00000264674.3,ENST00000392736.3,ENST00000472280.1,ENST00000468789.1,ENST00000433243.2 |
| exon_skip_389864 | 3 | 168819847:168820014:168830574:168830662:168833170:168833555 | 168830574:168830662 | ENSG00000085276.13 | ENST00000464456.1,ENST00000494292.1,ENST00000460814.1 |
| exon_skip_389870 | 3 | 168845832:168845848:168849216:168849319:168861485:168861620 | 168849216:168849319 | ENSG00000085276.13 | ENST00000264674.3,ENST00000392736.3,ENST00000464456.1,ENST00000472280.1,ENST00000494292.1,ENST00000468789.1,ENST00000433243.2,ENST00000484519.1,ENST00000460890.1,ENST00000487503.1,ENST00000494597.1,ENST00000481315.1 |
| exon_skip_389871 | 3 | 168849216:168849319:168851137:168851262:168861485:168861620 | 168851137:168851262 | ENSG00000085276.13 | ENST00000475754.1 |
| exon_skip_389873 | 3 | 168861485:168861620:168862784:168862846:168863105:168864076 | 168862784:168862846 | ENSG00000085276.13 | ENST00000487503.1 |
| exon_skip_389882 | 3 | 169099046:169099312:169283756:169283828:169381123:169381178 | 169283756:169283828 | ENSG00000085276.13 | ENST00000486748.1 |
| 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 MECOM |
| 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 |
| ENST00000468789 | 168849216 | 168849319 | 3UTR-3CDS |
| ENST00000468789 | 168825713 | 168825740 | 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 |
| ENST00000468789 | 168849216 | 168849319 | 3UTR-3CDS |
| ENST00000468789 | 168825713 | 168825740 | In-frame |
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Infer the effects of exon skipping event on protein functional features for MECOM |
| 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 MECOM |
| - 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 |
| KIRC | TCGA-B8-4154-01 | exon_skip_389870 | 168849217 | 168849319 | 168849313 | 168849314 | Frame_Shift_Del | AG | - | p.173_173del |
| STAD | TCGA-CG-5733-01 | exon_skip_389872 | 168861486 | 168861620 | 168861605 | 168861605 | Frame_Shift_Del | A | - | p.Y131fs |
| KIRC | TCGA-B0-5080-01 | exon_skip_389873 | 168862785 | 168862846 | 168862848 | 168862848 | Splice_Site | T | C | . |
| - 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 |
| K2_SKIN | 168830575 | 168830662 | 168830583 | 168830583 | Missense_Mutation | G | A | p.H669Y |
| MFHINO_SOFT_TISSUE | 168830575 | 168830662 | 168830585 | 168830585 | Missense_Mutation | A | G | p.F668S |
| HS839T_FIBROBLAST | 168830575 | 168830662 | 168830595 | 168830595 | Missense_Mutation | C | T | p.G665R |
| 647V_URINARY_TRACT | 168830575 | 168830662 | 168830631 | 168830631 | Missense_Mutation | C | T | p.E653K |
| NALM19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 168849217 | 168849319 | 168849256 | 168849256 | Missense_Mutation | C | T | p.E4K |
| HEC108_ENDOMETRIUM | 168849217 | 168849319 | 168849265 | 168849265 | Missense_Mutation | T | C | p.M189V |
| 639V_URINARY_TRACT | 168849217 | 168849319 | 168849288 | 168849288 | Missense_Mutation | G | A | p.P181L |
| MHHNB11_AUTONOMIC_GANGLIA | 168849217 | 168849319 | 168849300 | 168849300 | Missense_Mutation | G | T | p.A177E |
| SARC9371_BONE | 168861486 | 168861620 | 168861524 | 168861524 | Missense_Mutation | C | T | p.D158N |
| A549_LUNG | 168830575 | 168830662 | 168830658 | 168830658 | Nonsense_Mutation | C | A | p.E644* |
| REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 168849217 | 168849319 | 168849218 | 168849218 | Splice_Site | G | A | p.H16H |
| 451LU_SKIN | 168861486 | 168861620 | 168861486 | 168861486 | Splice_Site | C | T | p.Q170Q |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for MECOM |
| 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 MECOM |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for MECOM |
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RelatedDrugs for MECOM |
| 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 MECOM |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| MECOM | C0009375 | Colonic Neoplasms | 1 | CTD_human |
| MECOM | C0023448 | Lymphoid leukemia | 1 | CTD_human |
| MECOM | C0023470 | Myeloid Leukemia | 1 | CTD_human |
| MECOM | C0027439 | Nasopharyngeal Neoplasms | 1 | CTD_human |
| MECOM | C0919267 | ovarian neoplasm | 1 | CTD_human |
| MECOM | C1458155 | Mammary Neoplasms | 1 | CTD_human |
| MECOM | C4225221 | RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2 | 1 | UNIPROT |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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