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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 EPB41L3 |
 Gene summary |
| Gene information | Gene symbol | EPB41L3 | Gene ID | 23136 |
| Gene name | erythrocyte membrane protein band 4.1 like 3 | |
| Synonyms | 4.1B|DAL-1|DAL1 | |
| Cytomap | 18p11.31 | |
| Type of gene | protein-coding | |
| Description | band 4.1-like protein 3differentially expressed in adenocarcinoma of the lung protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y2J2 | |
| Context | PubMed: EPB41L3 [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 |
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Exon skipping events across known transcript of Ensembl for EPB41L3 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 EPB41L3 |
| 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 EPB41L3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297857 | 18 | 5393178:5393477:5394675:5394792:5395065:5395146 | 5394675:5394792 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000542146.1,ENST00000545076.1,ENST00000427684.2,ENST00000542652.2 |
| exon_skip_297862 | 18 | 5393178:5393477:5395065:5395146:5395607:5395706 | 5395065:5395146 | ENSG00000082397.11 | ENST00000544123.1 |
| exon_skip_297865 | 18 | 5394681:5394792:5395065:5395146:5395607:5395706 | 5395065:5395146 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000542146.1,ENST00000342933.3,ENST00000400111.3,ENST00000545076.1,ENST00000427684.2,ENST00000542652.2 |
| exon_skip_297867 | 18 | 5395065:5395146:5395607:5395706:5396199:5396331 | 5395607:5395706 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000542146.1,ENST00000342933.3,ENST00000579951.1,ENST00000400111.3,ENST00000544123.1,ENST00000545076.1,ENST00000578618.1,ENST00000427684.2,ENST00000542652.2 |
| exon_skip_297868 | 18 | 5395607:5395706:5396199:5396331:5397056:5397425 | 5396199:5396331 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000542146.1,ENST00000342933.3,ENST00000400111.3,ENST00000544123.1,ENST00000545076.1,ENST00000578618.1,ENST00000427684.2,ENST00000542652.2 |
| exon_skip_297869 | 18 | 5396199:5396331:5397056:5397425:5406775:5406967 | 5397056:5397425 | ENSG00000082397.11 | ENST00000540638.2,ENST00000400111.3,ENST00000545076.1,ENST00000542652.2 |
| exon_skip_297871 | 18 | 5397396:5397425:5398019:5398142:5400495:5400594 | 5398019:5398142 | ENSG00000082397.11 | ENST00000542146.1,ENST00000579271.1 |
| exon_skip_297872 | 18 | 5397396:5397425:5398019:5398142:5400967:5401042 | 5398019:5398142 | ENSG00000082397.11 | ENST00000580647.1,ENST00000427684.2,ENST00000581387.1 |
| exon_skip_297874 | 18 | 5397396:5397425:5398019:5398142:5406775:5406967 | 5398019:5398142 | ENSG00000082397.11 | ENST00000341928.2,ENST00000578524.1,ENST00000342933.3,ENST00000544123.1 |
| exon_skip_297882 | 18 | 5398111:5398142:5400495:5400594:5406775:5406967 | 5400495:5400594 | ENSG00000082397.11 | ENST00000542146.1,ENST00000579271.1 |
| exon_skip_297883 | 18 | 5398111:5398142:5400967:5401042:5406763:5406967 | 5400967:5401042 | ENSG00000082397.11 | ENST00000580647.1 |
| exon_skip_297884 | 18 | 5398111:5398142:5400967:5401042:5406775:5406967 | 5400967:5401042 | ENSG00000082397.11 | ENST00000427684.2,ENST00000581387.1 |
| exon_skip_297889 | 18 | 5406846:5406967:5407699:5407735:5410564:5410618 | 5407699:5407735 | ENSG00000082397.11 | ENST00000341928.2,ENST00000342933.3,ENST00000582729.1,ENST00000544123.1,ENST00000580316.1 |
| exon_skip_297890 | 18 | 5406846:5406967:5410564:5410618:5419709:5419793 | 5410564:5410618 | ENSG00000082397.11 | ENST00000540638.2,ENST00000542146.1,ENST00000578196.1,ENST00000578524.1,ENST00000579271.1,ENST00000400111.3,ENST00000545076.1,ENST00000580647.1,ENST00000427684.2,ENST00000542652.2,ENST00000578395.1,ENST00000581387.1 |
| exon_skip_297892 | 18 | 5410564:5410618:5415816:5416377:5419709:5419793 | 5415816:5416377 | ENSG00000082397.11 | ENST00000341928.2,ENST00000342933.3 |
| exon_skip_297893 | 18 | 5428311:5428464:5433467:5433555:5433901:5434120 | 5433467:5433555 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000342933.3,ENST00000400111.3,ENST00000544123.1,ENST00000545076.1,ENST00000542652.2 |
| exon_skip_297898 | 18 | 5438033:5438109:5443836:5443879:5445138:5445243 | 5443836:5443879 | ENSG00000082397.11 | ENST00000341928.2,ENST00000540638.2,ENST00000342933.3,ENST00000400111.3,ENST00000544123.1,ENST00000545076.1 |
| exon_skip_297903 | 18 | 5488999:5489193:5539619:5539697:5540338:5540395 | 5539619:5539697 | ENSG00000082397.11 | ENST00000581833.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPB41L3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297857 | 18 | 5393178:5393477:5394675:5394792:5395065:5395146 | 5394675:5394792 | ENSG00000082397.11 | ENST00000341928.2,ENST00000542652.2,ENST00000540638.2,ENST00000545076.1,ENST00000427684.2,ENST00000542146.1 |
| exon_skip_297862 | 18 | 5393178:5393477:5395065:5395146:5395607:5395706 | 5395065:5395146 | ENSG00000082397.11 | ENST00000544123.1 |
| exon_skip_297865 | 18 | 5394681:5394792:5395065:5395146:5395607:5395706 | 5395065:5395146 | ENSG00000082397.11 | ENST00000341928.2,ENST00000542652.2,ENST00000540638.2,ENST00000545076.1,ENST00000427684.2,ENST00000542146.1,ENST00000342933.3,ENST00000400111.3 |
| exon_skip_297867 | 18 | 5395065:5395146:5395607:5395706:5396199:5396331 | 5395607:5395706 | ENSG00000082397.11 | ENST00000341928.2,ENST00000578618.1,ENST00000542652.2,ENST00000544123.1,ENST00000540638.2,ENST00000545076.1,ENST00000427684.2,ENST00000542146.1,ENST00000342933.3,ENST00000400111.3,ENST00000579951.1 |
| exon_skip_297868 | 18 | 5395607:5395706:5396199:5396331:5397056:5397425 | 5396199:5396331 | ENSG00000082397.11 | ENST00000341928.2,ENST00000578618.1,ENST00000542652.2,ENST00000544123.1,ENST00000540638.2,ENST00000545076.1,ENST00000427684.2,ENST00000542146.1,ENST00000342933.3,ENST00000400111.3 |
| exon_skip_297869 | 18 | 5396199:5396331:5397056:5397425:5406775:5406967 | 5397056:5397425 | ENSG00000082397.11 | ENST00000542652.2,ENST00000540638.2,ENST00000545076.1,ENST00000400111.3 |
| exon_skip_297871 | 18 | 5397396:5397425:5398019:5398142:5400495:5400594 | 5398019:5398142 | ENSG00000082397.11 | ENST00000542146.1,ENST00000579271.1 |
| exon_skip_297872 | 18 | 5397396:5397425:5398019:5398142:5400967:5401042 | 5398019:5398142 | ENSG00000082397.11 | ENST00000427684.2,ENST00000581387.1,ENST00000580647.1 |
| exon_skip_297874 | 18 | 5397396:5397425:5398019:5398142:5406775:5406967 | 5398019:5398142 | ENSG00000082397.11 | ENST00000341928.2,ENST00000544123.1,ENST00000342933.3,ENST00000578524.1 |
| exon_skip_297882 | 18 | 5398111:5398142:5400495:5400594:5406775:5406967 | 5400495:5400594 | ENSG00000082397.11 | ENST00000542146.1,ENST00000579271.1 |
| exon_skip_297883 | 18 | 5398111:5398142:5400967:5401042:5406763:5406967 | 5400967:5401042 | ENSG00000082397.11 | ENST00000580647.1 |
| exon_skip_297884 | 18 | 5398111:5398142:5400967:5401042:5406775:5406967 | 5400967:5401042 | ENSG00000082397.11 | ENST00000427684.2,ENST00000581387.1 |
| exon_skip_297889 | 18 | 5406846:5406967:5407699:5407735:5410564:5410618 | 5407699:5407735 | ENSG00000082397.11 | ENST00000341928.2,ENST00000544123.1,ENST00000342933.3,ENST00000580316.1,ENST00000582729.1 |
| exon_skip_297890 | 18 | 5406846:5406967:5410564:5410618:5419709:5419793 | 5410564:5410618 | ENSG00000082397.11 | ENST00000542652.2,ENST00000540638.2,ENST00000545076.1,ENST00000427684.2,ENST00000542146.1,ENST00000400111.3,ENST00000578524.1,ENST00000581387.1,ENST00000579271.1,ENST00000580647.1,ENST00000578196.1,ENST00000578395.1 |
| exon_skip_297892 | 18 | 5410564:5410618:5415816:5416377:5419709:5419793 | 5415816:5416377 | ENSG00000082397.11 | ENST00000341928.2,ENST00000342933.3 |
| exon_skip_297893 | 18 | 5428311:5428464:5433467:5433555:5433901:5434120 | 5433467:5433555 | ENSG00000082397.11 | ENST00000341928.2,ENST00000542652.2,ENST00000544123.1,ENST00000540638.2,ENST00000545076.1,ENST00000342933.3,ENST00000400111.3 |
| exon_skip_297898 | 18 | 5438033:5438109:5443836:5443879:5445138:5445243 | 5443836:5443879 | ENSG00000082397.11 | ENST00000341928.2,ENST00000544123.1,ENST00000540638.2,ENST00000545076.1,ENST00000342933.3,ENST00000400111.3 |
| exon_skip_297900 | 18 | 5488999:5489193:5508163:5508277:5539619:5539688 | 5508163:5508277 | ENSG00000082397.11 | ENST00000582703.1 |
| exon_skip_297901 | 18 | 5488999:5489193:5518523:5518606:5539619:5539688 | 5518523:5518606 | ENSG00000082397.11 | ENST00000580179.1 |
| exon_skip_297903 | 18 | 5488999:5489193:5539619:5539697:5540338:5540395 | 5539619:5539697 | ENSG00000082397.11 | ENST00000581833.1 |
| 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 EPB41L3 |
| 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 |
| ENST00000341928 | 5394675 | 5394792 | 5CDS-5UTR |
| ENST00000341928 | 5433467 | 5433555 | Frame-shift |
| ENST00000341928 | 5443836 | 5443879 | Frame-shift |
| ENST00000341928 | 5395065 | 5395146 | In-frame |
| ENST00000341928 | 5395607 | 5395706 | In-frame |
| ENST00000341928 | 5396199 | 5396331 | In-frame |
| ENST00000341928 | 5398019 | 5398142 | In-frame |
| ENST00000341928 | 5407699 | 5407735 | In-frame |
| ENST00000341928 | 5415816 | 5416377 | 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 |
| ENST00000341928 | 5394675 | 5394792 | 5CDS-5UTR |
| ENST00000341928 | 5433467 | 5433555 | Frame-shift |
| ENST00000341928 | 5443836 | 5443879 | Frame-shift |
| ENST00000341928 | 5395065 | 5395146 | In-frame |
| ENST00000341928 | 5395607 | 5395706 | In-frame |
| ENST00000341928 | 5396199 | 5396331 | In-frame |
| ENST00000341928 | 5398019 | 5398142 | In-frame |
| ENST00000341928 | 5407699 | 5407735 | In-frame |
| ENST00000341928 | 5415816 | 5416377 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPB41L3 |
| 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 |
| ENST00000341928 | 4723 | 1087 | 5415816 | 5416377 | 1848 | 2408 | 502 | 689 |
| ENST00000341928 | 4723 | 1087 | 5407699 | 5407735 | 2463 | 2498 | 707 | 719 |
| ENST00000341928 | 4723 | 1087 | 5398019 | 5398142 | 2691 | 2813 | 783 | 824 |
| ENST00000341928 | 4723 | 1087 | 5396199 | 5396331 | 3183 | 3314 | 947 | 991 |
| ENST00000341928 | 4723 | 1087 | 5395607 | 5395706 | 3315 | 3413 | 991 | 1024 |
| ENST00000341928 | 4723 | 1087 | 5395065 | 5395146 | 3414 | 3494 | 1024 | 1051 |
| 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 |
| ENST00000341928 | 4723 | 1087 | 5415816 | 5416377 | 1848 | 2408 | 502 | 689 |
| ENST00000341928 | 4723 | 1087 | 5407699 | 5407735 | 2463 | 2498 | 707 | 719 |
| ENST00000341928 | 4723 | 1087 | 5398019 | 5398142 | 2691 | 2813 | 783 | 824 |
| ENST00000341928 | 4723 | 1087 | 5396199 | 5396331 | 3183 | 3314 | 947 | 991 |
| ENST00000341928 | 4723 | 1087 | 5395607 | 5395706 | 3315 | 3413 | 991 | 1024 |
| ENST00000341928 | 4723 | 1087 | 5395065 | 5395146 | 3414 | 3494 | 1024 | 1051 |
| 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 |
| Q9Y2J2 | 502 | 689 | 503 | 689 | Alternative sequence | ID=VSP_000483;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:14702039,PMID:15489334,PMID:98921 |
| Q9Y2J2 | 502 | 689 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 502 | 689 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 502 | 689 | 555 | 555 | Natural variant | ID=VAR_048353;Note=A->T;Dbxref=dbSNP:rs9966357 |
| Q9Y2J2 | 502 | 689 | 575 | 575 | Natural variant | ID=VAR_048354;Note=Y->C;Dbxref=dbSNP:rs8082898 |
| Q9Y2J2 | 502 | 689 | 394 | 513 | Region | Note=Hydrophilic |
| Q9Y2J2 | 502 | 689 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 707 | 719 | 708 | 719 | Alternative sequence | ID=VSP_000484;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:15489334,PMID:9892180 |
| Q9Y2J2 | 707 | 719 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 707 | 719 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 707 | 719 | 708 | 708 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV92 |
| Q9Y2J2 | 707 | 719 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 783 | 824 | 784 | 824 | Alternative sequence | ID=VSP_000485;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:15489334,PMID:9892180 |
| Q9Y2J2 | 783 | 824 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 783 | 824 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 783 | 824 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 947 | 991 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 947 | 991 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 947 | 991 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 947 | 991 | 960 | 960 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV92 |
| Q9Y2J2 | 947 | 991 | 962 | 962 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:24275569 |
| Q9Y2J2 | 947 | 991 | 861 | 1083 | Region | Note=C-terminal (CTD) |
| Q9Y2J2 | 991 | 1024 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 991 | 1024 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 991 | 1024 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 991 | 1024 | 861 | 1083 | Region | Note=C-terminal (CTD) |
| Q9Y2J2 | 1024 | 1051 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 1024 | 1051 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 1024 | 1051 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 1024 | 1051 | 861 | 1083 | Region | Note=C-terminal (CTD) |
| 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 |
| Q9Y2J2 | 502 | 689 | 503 | 689 | Alternative sequence | ID=VSP_000483;Note=In isoform 2%2C isoform 3 and isoform 4. Missing;Ontology_term=ECO:0000303,ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:14702039,PMID:15489334,PMID:98921 |
| Q9Y2J2 | 502 | 689 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 502 | 689 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 502 | 689 | 555 | 555 | Natural variant | ID=VAR_048353;Note=A->T;Dbxref=dbSNP:rs9966357 |
| Q9Y2J2 | 502 | 689 | 575 | 575 | Natural variant | ID=VAR_048354;Note=Y->C;Dbxref=dbSNP:rs8082898 |
| Q9Y2J2 | 502 | 689 | 394 | 513 | Region | Note=Hydrophilic |
| Q9Y2J2 | 502 | 689 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 707 | 719 | 708 | 719 | Alternative sequence | ID=VSP_000484;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:15489334,PMID:9892180 |
| Q9Y2J2 | 707 | 719 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 707 | 719 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 707 | 719 | 708 | 708 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV92 |
| Q9Y2J2 | 707 | 719 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 783 | 824 | 784 | 824 | Alternative sequence | ID=VSP_000485;Note=In isoform 2 and isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15489334,ECO:0000303|PubMed:9892180;Dbxref=PMID:15489334,PMID:9892180 |
| Q9Y2J2 | 783 | 824 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 783 | 824 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 783 | 824 | 514 | 860 | Region | Note=Spectrin--actin-binding;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9Y2J2 | 947 | 991 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 947 | 991 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 947 | 991 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 947 | 991 | 960 | 960 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000250;evidence=ECO:0000250|UniProtKB:Q9WV92 |
| Q9Y2J2 | 947 | 991 | 962 | 962 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244,ECO:0000244;evidence=ECO:0000244|PubMed:16964243,ECO:0000244|PubMed:24275569;Dbxref=PMID:16964243,PMID:24275569 |
| Q9Y2J2 | 947 | 991 | 861 | 1083 | Region | Note=C-terminal (CTD) |
| Q9Y2J2 | 991 | 1024 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 991 | 1024 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 991 | 1024 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 991 | 1024 | 861 | 1083 | Region | Note=C-terminal (CTD) |
| Q9Y2J2 | 1024 | 1051 | 835 | 1087 | Alternative sequence | ID=VSP_000486;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:9892180;Dbxref=PMID:9892180 |
| Q9Y2J2 | 1024 | 1051 | 1 | 1087 | Chain | ID=PRO_0000219399;Note=Band 4.1-like protein 3 |
| Q9Y2J2 | 1024 | 1051 | 2 | 1087 | Chain | ID=PRO_0000423194;Note=Band 4.1-like protein 3%2C N-terminally processed |
| Q9Y2J2 | 1024 | 1051 | 861 | 1083 | Region | Note=C-terminal (CTD) |
Top |
SNVs in the skipped exons for EPB41L3 |
| - 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. |
EPB41L3_HNSC_exon_skip_297892_psi_boxplot.png |
EPB41L3_LUSC_exon_skip_297892_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 |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395089 | 5395089 | Frame_Shift_Del | C | - | p.D1044fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395133 | 5395133 | Frame_Shift_Del | C | - | p.G1029fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395138 | 5395138 | Frame_Shift_Del | T | - | p.K1027fs |
| KIRC | TCGA-A3-3313-01 | exon_skip_297869 | 5397057 | 5397425 | 5397069 | 5397069 | Frame_Shift_Del | T | - | p.K943fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297892 | 5415817 | 5416377 | 5416044 | 5416044 | Frame_Shift_Del | T | - | p.T614fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_297892 | 5415817 | 5416377 | 5416131 | 5416131 | Frame_Shift_Del | G | - | p.L585fs |
| STAD | TCGA-HU-A4GN-01 | exon_skip_297893 | 5433468 | 5433555 | 5433504 | 5433504 | Frame_Shift_Del | T | - | p.L293fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_297898 | 5443837 | 5443879 | 5443847 | 5443847 | Frame_Shift_Del | T | - | p.K173fs |
| STAD | TCGA-F1-6177-01 | exon_skip_297898 | 5443837 | 5443879 | 5443847 | 5443847 | Frame_Shift_Del | T | - | p.Q174fs |
| COAD | TCGA-A6-6653-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398119 | 5398120 | Frame_Shift_Ins | - | T | p.K791fs |
| HNSC | TCGA-BB-7870-01 | exon_skip_297857 | 5394676 | 5394792 | 5394711 | 5394711 | Nonsense_Mutation | C | A | p.E1079* |
| COAD | TCGA-D5-6930-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395107 | 5395107 | Nonsense_Mutation | G | A | p.R1038X |
| READ | TCGA-DY-A1DF-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395107 | 5395107 | Nonsense_Mutation | G | A | p.R1038X |
| LUAD | TCGA-97-8172-01 | exon_skip_297867 | 5395608 | 5395706 | 5395685 | 5395685 | Nonsense_Mutation | C | A | p.E999* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_297869 | 5397057 | 5397425 | 5397122 | 5397122 | Nonsense_Mutation | G | A | p.R926* |
| STAD | TCGA-VQ-A8P2-01 | exon_skip_297869 | 5397057 | 5397425 | 5397122 | 5397122 | Nonsense_Mutation | G | A | p.R926X |
| HNSC | TCGA-CR-7388-01 | exon_skip_297869 | 5397057 | 5397425 | 5397176 | 5397176 | Nonsense_Mutation | C | A | p.E908* |
| LUAD | TCGA-NJ-A55R-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398034 | 5398034 | Nonsense_Mutation | G | A | p.Q820* |
| BLCA | TCGA-G2-A2EO-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398076 | 5398076 | Nonsense_Mutation | G | A | p.R806* |
| PAAD | TCGA-HV-A5A3-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398076 | 5398076 | Nonsense_Mutation | G | A | p.R806* |
| PAAD | TCGA-HV-A5A3-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398076 | 5398076 | Nonsense_Mutation | G | A | p.R806X |
| STAD | TCGA-CG-4301-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398076 | 5398076 | Nonsense_Mutation | G | A | p.R806* |
| STAD | TCGA-CG-4301-01 | exon_skip_297872 exon_skip_297874 exon_skip_297871 | 5398020 | 5398142 | 5398076 | 5398076 | Nonsense_Mutation | G | A | p.R806X |
| HNSC | TCGA-UF-A7JJ-01 | exon_skip_297892 | 5415817 | 5416377 | 5416179 | 5416179 | Nonsense_Mutation | G | A | p.Q569* |
| LUAD | TCGA-62-8395-01 | exon_skip_297898 | 5443837 | 5443879 | 5443840 | 5443840 | Nonsense_Mutation | G | A | p.R176* |
| HNSC | TCGA-CV-7101-01 | exon_skip_297857 | 5394676 | 5394792 | 5394794 | 5394794 | Splice_Site | T | A | p.A1052_splice |
| UCEC | TCGA-AP-A059-01 | exon_skip_297862 exon_skip_297865 | 5395066 | 5395146 | 5395147 | 5395147 | Splice_Site | C | A | e20-1 |
| SKCM | TCGA-EE-A2MC-06 | exon_skip_297867 | 5395608 | 5395706 | 5395607 | 5395607 | Splice_Site | C | - | . |
| LUSC | TCGA-70-6723-01 | exon_skip_297867 | 5395608 | 5395706 | 5395708 | 5395708 | Splice_Site | T | G | p.V992_splice |
| BLCA | TCGA-DK-A3WW-01 | exon_skip_297869 | 5397057 | 5397425 | 5397426 | 5397426 | Splice_Site | C | G | p.K825_splice |
| LUSC | TCGA-43-2578-01 | exon_skip_297892 | 5415817 | 5416377 | 5416379 | 5416379 | Splice_Site | T | A | p.S503_splice |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-43-2578-01 |
| Cancer type: LUSC | |
| ESID: exon_skip_297892 | |
| Skipped exon start: 5415817 | |
| Skipped exon end: 5416377 | |
| Mutation start: 5416379 | |
| Mutation end: 5416379 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: p.S503_splice | |
exon_skip_297892_LUSC_TCGA-43-2578-01.png | |
 | Sample: TCGA-UF-A7JJ-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_297892 | |
| Skipped exon start: 5415817 | |
| Skipped exon end: 5416377 | |
| Mutation start: 5416179 | |
| Mutation end: 5416179 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q569* | |
exon_skip_297892_HNSC_TCGA-UF-A7JJ-01.png | |
 | Sample: TCGA-DD-A1EG-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_297892 | |
| Skipped exon start: 5415817 | |
| Skipped exon end: 5416377 | |
| Mutation start: 5416131 | |
| Mutation end: 5416131 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: G | |
| Mutation seq: - | |
| AAchange: p.L585fs | |
exon_skip_103075_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_100809_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_101656_LIHC_TCGA-DD-A1EG-01.png | |
exon_skip_10700_LIHC_TCGA-DD-A1EG-01.png | |
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 | Sample: TCGA-NJ-A55R-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_297871 | |
| Skipped exon start: 5398020 | |
| Skipped exon end: 5398142 | |
| Mutation start: 5398034 | |
| Mutation end: 5398034 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.Q820* | |
exon_skip_297874_LUAD_TCGA-NJ-A55R-01.png | |
 | Sample: TCGA-CG-4301-01 |
| Cancer type: STAD | |
| ESID: exon_skip_297871 | |
| Skipped exon start: 5398020 | |
| Skipped exon end: 5398142 | |
| Mutation start: 5398076 | |
| Mutation end: 5398076 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R806X | |
| Sample: TCGA-CG-4301-01 |
| Cancer type: STAD | |
| ESID: exon_skip_297871 | |
| Skipped exon start: 5398020 | |
| Skipped exon end: 5398142 | |
| Mutation start: 5398076 | |
| Mutation end: 5398076 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: G | |
| Mutation seq: A | |
| AAchange: p.R806* | |
exon_skip_297874_STAD_TCGA-CG-4301-01.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 |
| HEC59_ENDOMETRIUM | 5397057 | 5397425 | 5397263 | 5397263 | Frame_Shift_Del | C | - | p.D879fs |
| MEWO_SKIN | 5415817 | 5416377 | 5416251 | 5416251 | Frame_Shift_Del | A | - | p.S545fs |
| EFO27_OVARY | 5443837 | 5443879 | 5443847 | 5443847 | Frame_Shift_Del | T | - | p.K173fs |
| COLO684_ENDOMETRIUM | 5443837 | 5443879 | 5443847 | 5443847 | Frame_Shift_Del | T | - | p.K173fs |
| SUPHD1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5395066 | 5395146 | 5395101 | 5395101 | Missense_Mutation | C | T | p.V1040I |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5395066 | 5395146 | 5395104 | 5395104 | Missense_Mutation | T | C | p.I1039V |
| MCC13_SKIN | 5395066 | 5395146 | 5395118 | 5395118 | Missense_Mutation | C | T | p.R1034K |
| ESS1_ENDOMETRIUM | 5395066 | 5395146 | 5395128 | 5395128 | Missense_Mutation | A | G | p.S1031P |
| H2369_PLEURA | 5395608 | 5395706 | 5395657 | 5395657 | Missense_Mutation | G | A | p.T1008M |
| CHAGOK1_LUNG | 5396200 | 5396331 | 5396228 | 5396228 | Missense_Mutation | G | A | p.T982I |
| MZ7MEL_SKIN | 5396200 | 5396331 | 5396246 | 5396246 | Missense_Mutation | G | A | p.P976L |
| NCIH2342_LUNG | 5397057 | 5397425 | 5397115 | 5397115 | Missense_Mutation | T | A | p.E928V |
| NCIH1436_LUNG | 5397057 | 5397425 | 5397127 | 5397127 | Missense_Mutation | C | T | p.R924H |
| SKCO1_LARGE_INTESTINE | 5397057 | 5397425 | 5397160 | 5397160 | Missense_Mutation | A | G | p.V913A |
| TE125T_FIBROBLAST | 5397057 | 5397425 | 5397160 | 5397160 | Missense_Mutation | A | G | p.V913A |
| CHAGOK1_LUNG | 5397057 | 5397425 | 5397260 | 5397260 | Missense_Mutation | C | A | p.A880S |
| SKMES1_LUNG | 5397057 | 5397425 | 5397267 | 5397267 | Missense_Mutation | G | T | p.S877R |
| COLO783_SKIN | 5397057 | 5397425 | 5397278 | 5397279 | Missense_Mutation | CC | TT | p.A874T |
| COLO783_SKIN | 5397057 | 5397425 | 5397278 | 5397278 | Missense_Mutation | C | T | p.A874T |
| L1236_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5397057 | 5397425 | 5397283 | 5397283 | Missense_Mutation | T | A | p.Y872F |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5397057 | 5397425 | 5397301 | 5397301 | Missense_Mutation | G | A | p.A866V |
| SNGM_ENDOMETRIUM | 5397057 | 5397425 | 5397302 | 5397302 | Missense_Mutation | C | T | p.A866T |
| SUDHL6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5397057 | 5397425 | 5397311 | 5397311 | Missense_Mutation | C | T | p.V863M |
| HEC59_ENDOMETRIUM | 5397057 | 5397425 | 5397373 | 5397373 | Missense_Mutation | T | C | p.H842R |
| HEC251_ENDOMETRIUM | 5398020 | 5398142 | 5398075 | 5398075 | Missense_Mutation | C | T | p.R806Q |
| DJM1_SKIN | 5398020 | 5398142 | 5398132 | 5398132 | Missense_Mutation | G | A | p.S787F |
| UBLC1_URINARY_TRACT | 5410565 | 5410618 | 5410605 | 5410605 | Missense_Mutation | C | A | p.R694L |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5410565 | 5410618 | 5410606 | 5410606 | Missense_Mutation | G | A | p.R694C |
| TGBC11TKB_STOMACH | 5415817 | 5416377 | 5415858 | 5415858 | Missense_Mutation | C | T | p.A676T |
| SNUC5_LARGE_INTESTINE | 5415817 | 5416377 | 5415860 | 5415860 | Missense_Mutation | C | A | p.S675I |
| L428_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5415817 | 5416377 | 5415903 | 5415903 | Missense_Mutation | C | T | p.A661T |
| UMUC5_URINARY_TRACT | 5415817 | 5416377 | 5415906 | 5415906 | Missense_Mutation | G | T | p.L660M |
| LS411N_LARGE_INTESTINE | 5415817 | 5416377 | 5415927 | 5415927 | Missense_Mutation | C | T | p.A653T |
| HEC265_ENDOMETRIUM | 5415817 | 5416377 | 5415929 | 5415929 | Missense_Mutation | T | C | p.Y652C |
| SKMEL30_SKIN | 5415817 | 5416377 | 5415974 | 5415974 | Missense_Mutation | A | T | p.L637H |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 5415817 | 5416377 | 5415990 | 5415990 | Missense_Mutation | G | A | p.L632F |
| MELJUSO_SKIN | 5415817 | 5416377 | 5416090 | 5416091 | Missense_Mutation | GG | AA | p.S598F |
| NCIH524_LUNG | 5415817 | 5416377 | 5416120 | 5416120 | Missense_Mutation | G | T | p.F588L |
| KARPAS45_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5415817 | 5416377 | 5416130 | 5416130 | Missense_Mutation | A | G | p.L585P |
| KYSE30_OESOPHAGUS | 5415817 | 5416377 | 5416140 | 5416140 | Missense_Mutation | C | T | p.G582R |
| NCIH835_LUNG | 5415817 | 5416377 | 5416184 | 5416184 | Missense_Mutation | C | A | p.G567V |
| HCC33_LUNG | 5415817 | 5416377 | 5416200 | 5416200 | Missense_Mutation | C | G | p.G562R |
| KURAMOCHI_OVARY | 5415817 | 5416377 | 5416216 | 5416216 | Missense_Mutation | C | A | p.L556F |
| CALU3_LUNG | 5415817 | 5416377 | 5416245 | 5416245 | Missense_Mutation | C | A | p.A547S |
| HEC1_ENDOMETRIUM | 5415817 | 5416377 | 5416280 | 5416280 | Missense_Mutation | T | C | p.N535S |
| HS870T_FIBROBLAST | 5415817 | 5416377 | 5416289 | 5416289 | Missense_Mutation | C | T | p.C532Y |
| HEC59_ENDOMETRIUM | 5415817 | 5416377 | 5416310 | 5416310 | Missense_Mutation | G | T | p.P525H |
| UDSCC2_UPPER_AERODIGESTIVE_TRACT | 5415817 | 5416377 | 5416359 | 5416359 | Missense_Mutation | C | T | p.D509N |
| NCIH1573_LUNG | 5433468 | 5433555 | 5433528 | 5433528 | Missense_Mutation | C | A | p.M284I |
| RKO_LARGE_INTESTINE | 5433468 | 5433555 | 5433551 | 5433551 | Missense_Mutation | T | C | p.M277V |
| HCC15_LUNG | 5443837 | 5443879 | 5443866 | 5443866 | Missense_Mutation | G | T | p.P167H |
| SNU449_LIVER | 5395066 | 5395146 | 5395107 | 5395107 | Nonsense_Mutation | G | A | p.R1038* |
| DOTC24510_CERVIX | 5397057 | 5397425 | 5397167 | 5397167 | Nonsense_Mutation | T | A | p.K911* |
| NCIH2009_LUNG | 5397057 | 5397425 | 5397320 | 5397320 | Nonsense_Mutation | C | A | p.E860* |
| YKG1_CENTRAL_NERVOUS_SYSTEM | 5394676 | 5394792 | 5394791 | 5394802 | Splice_Site | GCCTATCCCCGG | - | p.P1052del |
| HLE_LIVER | 5395608 | 5395706 | 5395608 | 5395608 | Splice_Site | T | C | p.K1024K |
| HCC2108_LUNG | 5415817 | 5416377 | 5415817 | 5415817 | Splice_Site | C | T | p.E689E |
| MORCPR_LUNG | 5415817 | 5416377 | 5415817 | 5415817 | Splice_Site | C | T | p.E689E |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41L3 |
| 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 EPB41L3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41L3 |
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RelatedDrugs for EPB41L3 |
| 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 EPB41L3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPB41L3 | C1458155 | Mammary Neoplasms | 1 | CTD_human |
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