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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 SELE |
 Gene summary |
| Gene information | Gene symbol | SELE | Gene ID | 6401 |
| Gene name | selectin E | |
| Synonyms | CD62E|ELAM|ELAM1|ESEL|LECAM2 | |
| Cytomap | 1q24.2 | |
| Type of gene | protein-coding | |
| Description | E-selectinCD62 antigen-like family member EELAM-1endothelial adhesion molecule 1endothelial leukocyte adhesion molecule 1leukocyte endothelial cell adhesion molecule 2 | |
| Modification date | 20180519 | |
| UniProtAcc | P16581 | |
| Context | PubMed: SELE [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 |
| SELE | GO:0002092 | positive regulation of receptor internalization | 9312078 |
| SELE | GO:0007159 | leukocyte cell-cell adhesion | 7680663 |
| SELE | GO:0030029 | actin filament-based process | 8609175 |
| SELE | GO:0070555 | response to interleukin-1 | 8609175 |
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Exon skipping events across known transcript of Ensembl for SELE 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 SELE |
| 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 SELE |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34512 | 1 | 169696489:169696666:169696879:169697068:169697198:169697387 | 169696879:169697068 | ENSG00000007908.11 | ENST00000333360.7 |
| exon_skip_34516 | 1 | 169696879:169697068:169697198:169697387:169698326:169698515 | 169697198:169697387 | ENSG00000007908.11 | ENST00000333360.7 |
| exon_skip_34517 | 1 | 169698628:169698814:169699572:169699758:169700975:169701083 | 169699572:169699758 | ENSG00000007908.11 | ENST00000367774.1,ENST00000367782.4,ENST00000367777.1,ENST00000367776.1,ENST00000333360.7,ENST00000367779.4,ENST00000367781.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SELE |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_34513 | 1 | 169696489:169696666:169696879:169697068:169698326:169698515 | 169696879:169697068 | ENSG00000007908.11 | ENST00000367781.4,ENST00000367780.4,ENST00000367775.1,ENST00000367776.1 |
| exon_skip_34516 | 1 | 169696879:169697068:169697198:169697387:169698326:169698515 | 169697198:169697387 | ENSG00000007908.11 | ENST00000333360.7 |
| exon_skip_34517 | 1 | 169698628:169698814:169699572:169699758:169700975:169701083 | 169699572:169699758 | ENSG00000007908.11 | ENST00000367781.4,ENST00000367782.4,ENST00000367779.4,ENST00000367777.1,ENST00000367776.1,ENST00000333360.7,ENST00000367774.1 |
| 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 SELE |
| 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 |
| ENST00000333360 | 169696879 | 169697068 | In-frame |
| ENST00000333360 | 169697198 | 169697387 | In-frame |
| ENST00000333360 | 169699572 | 169699758 | 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 |
| ENST00000333360 | 169697198 | 169697387 | In-frame |
| ENST00000333360 | 169699572 | 169699758 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SELE |
| 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 |
| ENST00000333360 | 3874 | 610 | 169699572 | 169699758 | 670 | 855 | 176 | 238 |
| ENST00000333360 | 3874 | 610 | 169697198 | 169697387 | 1231 | 1419 | 363 | 426 |
| ENST00000333360 | 3874 | 610 | 169696879 | 169697068 | 1420 | 1608 | 426 | 489 |
| 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 |
| ENST00000333360 | 3874 | 610 | 169699572 | 169699758 | 670 | 855 | 176 | 238 |
| ENST00000333360 | 3874 | 610 | 169697198 | 169697387 | 1231 | 1419 | 363 | 426 |
| 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 |
| P16581 | 176 | 238 | 189 | 194 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 205 | 210 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 214 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 222 | 224 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 230 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 237 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 22 | 610 | Chain | ID=PRO_0000017492;Note=E-selectin |
| P16581 | 176 | 238 | 180 | 224 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 193 | 206 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 210 | 237 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 178 | 239 | Domain | Note=Sushi 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 176 | 238 | 179 | 179 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 199 | 199 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 203 | 203 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 22 | 556 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P16581 | 363 | 426 | 22 | 610 | Chain | ID=PRO_0000017492;Note=E-selectin |
| P16581 | 363 | 426 | 367 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 363 | 426 | 398 | 425 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 363 | 426 | 303 | 364 | Domain | Note=Sushi 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 363 | 426 | 366 | 427 | Domain | Note=Sushi 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 363 | 426 | 421 | 421 | Natural variant | ID=VAR_011792;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs5366 |
| P16581 | 363 | 426 | 22 | 556 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P16581 | 426 | 489 | 22 | 610 | Chain | ID=PRO_0000017492;Note=E-selectin |
| P16581 | 426 | 489 | 430 | 475 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 426 | 489 | 461 | 488 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 426 | 489 | 366 | 427 | Domain | Note=Sushi 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 426 | 489 | 429 | 490 | Domain | Note=Sushi 5;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 426 | 489 | 468 | 468 | Natural variant | ID=VAR_011793;Note=H->Y;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:10391210,ECO:0000269|Ref.4;Dbxref=dbSNP:rs5368,PMID:10391210 |
| P16581 | 426 | 489 | 22 | 556 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| 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 |
| P16581 | 176 | 238 | 189 | 194 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 196 | 198 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 205 | 210 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 214 | 217 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 222 | 224 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 230 | 232 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 237 | 239 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:4C16 |
| P16581 | 176 | 238 | 22 | 610 | Chain | ID=PRO_0000017492;Note=E-selectin |
| P16581 | 176 | 238 | 180 | 224 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 193 | 206 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 210 | 237 | Disulfide bond | Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 178 | 239 | Domain | Note=Sushi 1;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 176 | 238 | 179 | 179 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 199 | 199 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 203 | 203 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000244,ECO:0000244,ECO:0000269;evidence=ECO:0000244|PDB:4C16,ECO:0000244|PDB:4CSY,ECO:0000269|PubMed:26117840;Dbxref=PMID:26117840 |
| P16581 | 176 | 238 | 22 | 556 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| P16581 | 363 | 426 | 22 | 610 | Chain | ID=PRO_0000017492;Note=E-selectin |
| P16581 | 363 | 426 | 367 | 412 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 363 | 426 | 398 | 425 | Disulfide bond | Ontology_term=ECO:0000250;evidence=ECO:0000250 |
| P16581 | 363 | 426 | 303 | 364 | Domain | Note=Sushi 3;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 363 | 426 | 366 | 427 | Domain | Note=Sushi 4;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00302 |
| P16581 | 363 | 426 | 421 | 421 | Natural variant | ID=VAR_011792;Note=E->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|Ref.4;Dbxref=dbSNP:rs5366 |
| P16581 | 363 | 426 | 22 | 556 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for SELE |
| - 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 |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_34512 | 169696880 | 169697068 | 169697038 | 169697038 | Frame_Shift_Del | G | - | p.P437fs |
| COAD | TCGA-F4-6856-01 | exon_skip_34516 | 169697199 | 169697387 | 169697236 | 169697236 | Frame_Shift_Del | G | - | p.T415fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_34516 | 169697199 | 169697387 | 169697261 | 169697261 | Frame_Shift_Del | C | - | p.G406fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_34517 | 169699573 | 169699758 | 169699633 | 169699633 | Frame_Shift_Del | T | - | p.M219fs |
| SKCM | TCGA-BF-AAP1-01 | exon_skip_34512 | 169696880 | 169697068 | 169696906 | 169696906 | Nonsense_Mutation | C | T | p.W481* |
| HNSC | TCGA-CR-7364-01 | exon_skip_34512 | 169696880 | 169697068 | 169696913 | 169696913 | Nonsense_Mutation | C | A | p.G479* |
| LUAD | TCGA-55-8204-01 | exon_skip_34512 | 169696880 | 169697068 | 169696958 | 169696958 | Nonsense_Mutation | C | A | p.G464* |
| COAD | TCGA-AM-5820-01 | exon_skip_34516 | 169697199 | 169697387 | 169697355 | 169697355 | Nonsense_Mutation | G | A | p.R375X |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_34517 | 169699573 | 169699758 | 169699598 | 169699598 | Nonsense_Mutation | C | T | p.W230* |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_34517 | 169699573 | 169699758 | 169699598 | 169699598 | Nonsense_Mutation | C | T | p.W230X |
| KIRC | TCGA-A3-A8CQ-01 | exon_skip_34517 | 169699573 | 169699758 | 169699599 | 169699599 | Nonsense_Mutation | C | T | p.W230X |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_34517 | 169699573 | 169699758 | 169699599 | 169699599 | Nonsense_Mutation | C | T | p.W230* |
| SKCM | TCGA-EE-A2MT-06 | exon_skip_34517 | 169699573 | 169699758 | 169699599 | 169699599 | Nonsense_Mutation | C | T | p.W230X |
| LUAD | TCGA-53-7624-01 | exon_skip_34517 | 169699573 | 169699758 | 169699709 | 169699709 | Nonsense_Mutation | G | T | p.C193* |
| SKCM | TCGA-EE-A3J8-06 | exon_skip_34517 | 169699573 | 169699758 | 169699572 | 169699572 | Splice_Site | C | T | . |
| - 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 |
| LS411N_LARGE_INTESTINE | 169696880 | 169697068 | 169696962 | 169696962 | Missense_Mutation | C | A | p.E462D |
| 2313287_STOMACH | 169696880 | 169697068 | 169696963 | 169696963 | Missense_Mutation | T | G | p.E462A |
| DMS153_LUNG | 169696880 | 169697068 | 169696990 | 169696990 | Missense_Mutation | T | A | p.Y453F |
| IGR1_SKIN | 169696880 | 169697068 | 169697011 | 169697011 | Missense_Mutation | G | A | p.S446F |
| SNU1040_LARGE_INTESTINE | 169696880 | 169697068 | 169697038 | 169697038 | Missense_Mutation | G | A | p.P437L |
| SISO_CERVIX | 169697199 | 169697387 | 169697216 | 169697216 | Missense_Mutation | T | C | p.E421G |
| KMS34_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169697199 | 169697387 | 169697246 | 169697246 | Missense_Mutation | T | G | p.Q411P |
| BT474_BREAST | 169699573 | 169699758 | 169699596 | 169699596 | Missense_Mutation | C | G | p.S231T |
| NB1_AUTONOMIC_GANGLIA | 169699573 | 169699758 | 169699626 | 169699626 | Missense_Mutation | G | T | p.T221N |
| BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169699573 | 169699758 | 169699707 | 169699707 | Missense_Mutation | C | A | p.S194I |
| SISO_CERVIX | 169699573 | 169699758 | 169699726 | 169699726 | Missense_Mutation | G | A | p.H188Y |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 169699573 | 169699758 | 169699726 | 169699726 | Missense_Mutation | G | A | p.H188Y |
| NCIH1417_LUNG | 169697199 | 169697387 | 169697377 | 169697377 | Nonsense_Mutation | G | T | p.C367* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SELE |
| 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 SELE |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SELE |
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RelatedDrugs for SELE |
| 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 |
| P16581 | DB01136 | Carvedilol | E-selectin | small molecule | approved|investigational |
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RelatedDiseases for SELE |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| SELE | C0007222 | Cardiovascular Diseases | 2 | CTD_human |
| SELE | C0035126 | Reperfusion Injury | 2 | CTD_human |
| SELE | C0004238 | Atrial Fibrillation | 1 | CTD_human |
| SELE | C0007786 | Brain Ischemia | 1 | CTD_human |
| SELE | C0011615 | Dermatitis, Atopic | 1 | CTD_human |
| SELE | C0020443 | Hypercholesterolemia | 1 | CTD_human |
| SELE | C0026769 | Multiple Sclerosis | 1 | CTD_human |
| SELE | C0042109 | Urticaria | 1 | CTD_human |
| SELE | C0151744 | Myocardial Ischemia | 1 | CTD_human |
| SELE | C0162820 | Dermatitis, Allergic Contact | 1 | CTD_human |
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