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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 EPB41 |
 Gene summary |
| Gene information | Gene symbol | EPB41 | Gene ID | 2035 |
| Gene name | erythrocyte membrane protein band 4.1 | |
| Synonyms | 4.1R|EL1|HE | |
| Cytomap | 1p35.3 | |
| Type of gene | protein-coding | |
| Description | protein 4.1EPB4.1P4.1band 4.1elliptocytosis 1, RH-linkederythrocyte surface protein band 4.1 | |
| Modification date | 20180523 | |
| UniProtAcc | P11171 | |
| Context | PubMed: EPB41 [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 |
| EPB41 | GO:0032092 | positive regulation of protein binding | 3693401 |
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Exon skipping events across known transcript of Ensembl for EPB41 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 EPB41 |
| 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 EPB41 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3493 | 1 | 29313959:29314417:29315867:29315947:29319841:29319968 | 29315867:29315947 | ENSG00000159023.14 | ENST00000349460.4,ENST00000373800.3 |
| exon_skip_3494 | 1 | 29313959:29314417:29319841:29320054:29323726:29323831 | 29319841:29320054 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3495 | 1 | 29313959:29314417:29319841:29320054:29338376:29338419 | 29319841:29320054 | ENSG00000159023.14 | ENST00000347529.3 |
| exon_skip_3497 | 1 | 29319841:29320054:29323726:29323831:29338376:29338412 | 29323726:29323831 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000349460.4,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3499 | 1 | 29323726:29323831:29338376:29338419:29342203:29342279 | 29338376:29338419 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000349460.4,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3500 | 1 | 29342203:29342279:29344735:29344954:29356911:29356999 | 29344735:29344954 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3501 | 1 | 29356911:29356999:29359604:29359757:29362337:29362435 | 29359604:29359757 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3502 | 1 | 29362337:29362435:29365765:29365938:29379615:29379824 | 29365765:29365938 | ENSG00000159023.14 | ENST00000398863.2,ENST00000373797.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3504 | 1 | 29379618:29379824:29385100:29385157:29385322:29385364 | 29385100:29385157 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3505 | 1 | 29379618:29379824:29385100:29385157:29386933:29386996 | 29385100:29385157 | ENSG00000159023.14 | ENST00000373797.1,ENST00000349460.4 |
| exon_skip_3510 | 1 | 29379618:29379824:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000373800.3,ENST00000356093.2 |
| exon_skip_3511 | 1 | 29385115:29385157:29385322:29385364:29386933:29386996 | 29385322:29385364 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3515 | 1 | 29385115:29385157:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000373797.1,ENST00000349460.4 |
| exon_skip_3516 | 1 | 29385322:29385364:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3526 | 1 | 29391493:29391670:29424318:29424447:29435847:29435870 | 29424318:29424447 | ENSG00000159023.14 | ENST00000490308.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3527 | 1 | 29391493:29391670:29424318:29424447:29438879:29438960 | 29424318:29424447 | ENSG00000159023.14 | ENST00000373800.3 |
| exon_skip_3529 | 1 | 29391493:29391670:29435847:29435949:29438879:29438960 | 29435847:29435949 | ENSG00000159023.14 | ENST00000398863.2 |
| exon_skip_3536 | 1 | 29424318:29424447:29435847:29435949:29438879:29438960 | 29435847:29435949 | ENSG00000159023.14 | ENST00000460378.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3538 | 1 | 29424318:29424447:29438879:29438960:29442210:29442315 | 29438879:29438960 | ENSG00000159023.14 | ENST00000373800.3 |
| exon_skip_3539 | 1 | 29435847:29435949:29438879:29438960:29442210:29442315 | 29438879:29438960 | ENSG00000159023.14 | ENST00000398863.2,ENST00000460378.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000356093.2 |
| exon_skip_3540 | 1 | 29438879:29438960:29442210:29442315:29443330:29443626 | 29442210:29442315 | ENSG00000159023.14 | ENST00000398863.2,ENST00000460378.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPB41 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_3493 | 1 | 29313959:29314417:29315867:29315947:29319841:29319968 | 29315867:29315947 | ENSG00000159023.14 | ENST00000373800.3,ENST00000349460.4 |
| exon_skip_3494 | 1 | 29313959:29314417:29319841:29320054:29323726:29323831 | 29319841:29320054 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3495 | 1 | 29313959:29314417:29319841:29320054:29338376:29338419 | 29319841:29320054 | ENSG00000159023.14 | ENST00000347529.3 |
| exon_skip_3497 | 1 | 29319841:29320054:29323726:29323831:29338376:29338412 | 29323726:29323831 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3499 | 1 | 29323726:29323831:29338376:29338419:29342203:29342279 | 29338376:29338419 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3500 | 1 | 29342203:29342279:29344735:29344954:29356911:29356999 | 29344735:29344954 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3501 | 1 | 29356911:29356999:29359604:29359757:29362337:29362435 | 29359604:29359757 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3502 | 1 | 29362337:29362435:29365765:29365938:29379615:29379824 | 29365765:29365938 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000373797.1 |
| exon_skip_3504 | 1 | 29379618:29379824:29385100:29385157:29385322:29385364 | 29385100:29385157 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3505 | 1 | 29379618:29379824:29385100:29385157:29386933:29386996 | 29385100:29385157 | ENSG00000159023.14 | ENST00000349460.4,ENST00000373797.1 |
| exon_skip_3510 | 1 | 29379618:29379824:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000356093.2,ENST00000373800.3 |
| exon_skip_3511 | 1 | 29385115:29385157:29385322:29385364:29386933:29386996 | 29385322:29385364 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3515 | 1 | 29385115:29385157:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000349460.4,ENST00000373797.1 |
| exon_skip_3516 | 1 | 29385322:29385364:29386933:29386996:29391493:29391670 | 29386933:29386996 | ENSG00000159023.14 | ENST00000343067.4,ENST00000373798.1 |
| exon_skip_3526 | 1 | 29391493:29391670:29424318:29424447:29435847:29435870 | 29424318:29424447 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000490308.1 |
| exon_skip_3527 | 1 | 29391493:29391670:29424318:29424447:29438879:29438960 | 29424318:29424447 | ENSG00000159023.14 | ENST00000373800.3 |
| exon_skip_3529 | 1 | 29391493:29391670:29435847:29435949:29438879:29438960 | 29435847:29435949 | ENSG00000159023.14 | ENST00000398863.2 |
| exon_skip_3536 | 1 | 29424318:29424447:29435847:29435949:29438879:29438960 | 29435847:29435949 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000460378.1 |
| exon_skip_3538 | 1 | 29424318:29424447:29438879:29438960:29442210:29442315 | 29438879:29438960 | ENSG00000159023.14 | ENST00000373800.3 |
| exon_skip_3539 | 1 | 29435847:29435949:29438879:29438960:29442210:29442315 | 29438879:29438960 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000460378.1 |
| exon_skip_3540 | 1 | 29438879:29438960:29442210:29442315:29443330:29443626 | 29442210:29442315 | ENSG00000159023.14 | ENST00000343067.4,ENST00000356093.2,ENST00000398863.2,ENST00000373800.3,ENST00000349460.4,ENST00000347529.3,ENST00000373798.1,ENST00000460378.1 |
| 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 EPB41 |
| 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 |
| ENST00000343067 | 29442210 | 29442315 | 3UTR-3CDS |
| ENST00000373798 | 29442210 | 29442315 | 3UTR-3CDS |
| ENST00000343067 | 29338376 | 29338419 | Frame-shift |
| ENST00000373798 | 29338376 | 29338419 | Frame-shift |
| ENST00000343067 | 29365765 | 29365938 | Frame-shift |
| ENST00000373798 | 29365765 | 29365938 | Frame-shift |
| ENST00000343067 | 29319841 | 29320054 | In-frame |
| ENST00000373798 | 29319841 | 29320054 | In-frame |
| ENST00000343067 | 29323726 | 29323831 | In-frame |
| ENST00000373798 | 29323726 | 29323831 | In-frame |
| ENST00000343067 | 29344735 | 29344954 | In-frame |
| ENST00000373798 | 29344735 | 29344954 | In-frame |
| ENST00000343067 | 29359604 | 29359757 | In-frame |
| ENST00000373798 | 29359604 | 29359757 | In-frame |
| ENST00000343067 | 29385100 | 29385157 | In-frame |
| ENST00000373798 | 29385100 | 29385157 | In-frame |
| ENST00000343067 | 29385322 | 29385364 | In-frame |
| ENST00000373798 | 29385322 | 29385364 | In-frame |
| ENST00000343067 | 29386933 | 29386996 | In-frame |
| ENST00000373798 | 29386933 | 29386996 | In-frame |
| ENST00000343067 | 29424318 | 29424447 | In-frame |
| ENST00000373798 | 29424318 | 29424447 | In-frame |
| ENST00000343067 | 29435847 | 29435949 | In-frame |
| ENST00000373798 | 29435847 | 29435949 | In-frame |
| ENST00000343067 | 29438879 | 29438960 | In-frame |
| ENST00000373798 | 29438879 | 29438960 | 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 |
| ENST00000343067 | 29442210 | 29442315 | 3UTR-3CDS |
| ENST00000373798 | 29442210 | 29442315 | 3UTR-3CDS |
| ENST00000343067 | 29338376 | 29338419 | Frame-shift |
| ENST00000373798 | 29338376 | 29338419 | Frame-shift |
| ENST00000343067 | 29365765 | 29365938 | Frame-shift |
| ENST00000373798 | 29365765 | 29365938 | Frame-shift |
| ENST00000343067 | 29319841 | 29320054 | In-frame |
| ENST00000373798 | 29319841 | 29320054 | In-frame |
| ENST00000343067 | 29323726 | 29323831 | In-frame |
| ENST00000373798 | 29323726 | 29323831 | In-frame |
| ENST00000343067 | 29344735 | 29344954 | In-frame |
| ENST00000373798 | 29344735 | 29344954 | In-frame |
| ENST00000343067 | 29359604 | 29359757 | In-frame |
| ENST00000373798 | 29359604 | 29359757 | In-frame |
| ENST00000343067 | 29385100 | 29385157 | In-frame |
| ENST00000373798 | 29385100 | 29385157 | In-frame |
| ENST00000343067 | 29385322 | 29385364 | In-frame |
| ENST00000373798 | 29385322 | 29385364 | In-frame |
| ENST00000343067 | 29386933 | 29386996 | In-frame |
| ENST00000373798 | 29386933 | 29386996 | In-frame |
| ENST00000343067 | 29424318 | 29424447 | In-frame |
| ENST00000373798 | 29424318 | 29424447 | In-frame |
| ENST00000343067 | 29435847 | 29435949 | In-frame |
| ENST00000373798 | 29435847 | 29435949 | In-frame |
| ENST00000343067 | 29438879 | 29438960 | In-frame |
| ENST00000373798 | 29438879 | 29438960 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPB41 |
| 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 |
| ENST00000343067 | 5947 | 864 | 29319841 | 29320054 | 596 | 808 | 156 | 227 |
| ENST00000373798 | 5945 | 864 | 29319841 | 29320054 | 573 | 785 | 156 | 227 |
| ENST00000343067 | 5947 | 864 | 29323726 | 29323831 | 809 | 913 | 227 | 262 |
| ENST00000373798 | 5945 | 864 | 29323726 | 29323831 | 786 | 890 | 227 | 262 |
| ENST00000343067 | 5947 | 864 | 29344735 | 29344954 | 1033 | 1251 | 302 | 374 |
| ENST00000373798 | 5945 | 864 | 29344735 | 29344954 | 1010 | 1228 | 302 | 374 |
| ENST00000343067 | 5947 | 864 | 29359604 | 29359757 | 1340 | 1492 | 404 | 455 |
| ENST00000373798 | 5945 | 864 | 29359604 | 29359757 | 1317 | 1469 | 404 | 455 |
| ENST00000343067 | 5947 | 864 | 29385100 | 29385157 | 1973 | 2029 | 615 | 634 |
| ENST00000373798 | 5945 | 864 | 29385100 | 29385157 | 1950 | 2006 | 615 | 634 |
| ENST00000343067 | 5947 | 864 | 29385322 | 29385364 | 2030 | 2071 | 634 | 648 |
| ENST00000373798 | 5945 | 864 | 29385322 | 29385364 | 2007 | 2048 | 634 | 648 |
| ENST00000343067 | 5947 | 864 | 29386933 | 29386996 | 2072 | 2134 | 648 | 669 |
| ENST00000373798 | 5945 | 864 | 29386933 | 29386996 | 2049 | 2111 | 648 | 669 |
| ENST00000343067 | 5947 | 864 | 29424318 | 29424447 | 2312 | 2440 | 728 | 771 |
| ENST00000373798 | 5945 | 864 | 29424318 | 29424447 | 2289 | 2417 | 728 | 771 |
| ENST00000343067 | 5947 | 864 | 29435847 | 29435949 | 2441 | 2542 | 771 | 805 |
| ENST00000373798 | 5945 | 864 | 29435847 | 29435949 | 2418 | 2519 | 771 | 805 |
| ENST00000343067 | 5947 | 864 | 29438879 | 29438960 | 2543 | 2623 | 805 | 832 |
| ENST00000373798 | 5945 | 864 | 29438879 | 29438960 | 2520 | 2600 | 805 | 832 |
| 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 |
| ENST00000343067 | 5947 | 864 | 29319841 | 29320054 | 596 | 808 | 156 | 227 |
| ENST00000373798 | 5945 | 864 | 29319841 | 29320054 | 573 | 785 | 156 | 227 |
| ENST00000343067 | 5947 | 864 | 29323726 | 29323831 | 809 | 913 | 227 | 262 |
| ENST00000373798 | 5945 | 864 | 29323726 | 29323831 | 786 | 890 | 227 | 262 |
| ENST00000343067 | 5947 | 864 | 29344735 | 29344954 | 1033 | 1251 | 302 | 374 |
| ENST00000373798 | 5945 | 864 | 29344735 | 29344954 | 1010 | 1228 | 302 | 374 |
| ENST00000343067 | 5947 | 864 | 29359604 | 29359757 | 1340 | 1492 | 404 | 455 |
| ENST00000373798 | 5945 | 864 | 29359604 | 29359757 | 1317 | 1469 | 404 | 455 |
| ENST00000343067 | 5947 | 864 | 29385100 | 29385157 | 1973 | 2029 | 615 | 634 |
| ENST00000373798 | 5945 | 864 | 29385100 | 29385157 | 1950 | 2006 | 615 | 634 |
| ENST00000343067 | 5947 | 864 | 29385322 | 29385364 | 2030 | 2071 | 634 | 648 |
| ENST00000373798 | 5945 | 864 | 29385322 | 29385364 | 2007 | 2048 | 634 | 648 |
| ENST00000343067 | 5947 | 864 | 29386933 | 29386996 | 2072 | 2134 | 648 | 669 |
| ENST00000373798 | 5945 | 864 | 29386933 | 29386996 | 2049 | 2111 | 648 | 669 |
| ENST00000343067 | 5947 | 864 | 29424318 | 29424447 | 2312 | 2440 | 728 | 771 |
| ENST00000373798 | 5945 | 864 | 29424318 | 29424447 | 2289 | 2417 | 728 | 771 |
| ENST00000343067 | 5947 | 864 | 29435847 | 29435949 | 2441 | 2542 | 771 | 805 |
| ENST00000373798 | 5945 | 864 | 29435847 | 29435949 | 2418 | 2519 | 771 | 805 |
| ENST00000343067 | 5947 | 864 | 29438879 | 29438960 | 2543 | 2623 | 805 | 832 |
| ENST00000373798 | 5945 | 864 | 29438879 | 29438960 | 2520 | 2600 | 805 | 832 |
| 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 EPB41 |
| - 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_3494 exon_skip_3495 | 29319842 | 29320054 | 29319988 | 29319988 | Frame_Shift_Del | A | - | p.R205fs |
| UCEC | TCGA-D1-A17B-01 | exon_skip_3494 exon_skip_3495 | 29319842 | 29320054 | 29319991 | 29319992 | Frame_Shift_Del | AC | - | p.K206fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_3494 exon_skip_3495 | 29319842 | 29320054 | 29320014 | 29320014 | Frame_Shift_Del | T | - | p.V214fs |
| COAD | TCGA-G4-6588-01 | exon_skip_3494 exon_skip_3495 | 29319842 | 29320054 | 29320029 | 29320030 | Frame_Shift_Del | AC | - | p.10_10del |
| HNSC | TCGA-CV-A468-01 | exon_skip_3497 | 29323727 | 29323831 | 29323785 | 29323785 | Frame_Shift_Del | A | - | p.E248fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_3499 | 29338377 | 29338419 | 29338403 | 29338403 | Frame_Shift_Del | A | - | p.I271fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_3502 | 29365766 | 29365938 | 29365885 | 29365885 | Frame_Shift_Del | C | - | p.A528fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_3502 | 29365766 | 29365938 | 29365885 | 29365885 | Frame_Shift_Del | C | - | p.A528fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_3527 exon_skip_3526 | 29424319 | 29424447 | 29424432 | 29424432 | Frame_Shift_Del | T | - | p.T766fs |
| COAD | TCGA-A6-5657-01 | exon_skip_3529 exon_skip_3536 | 29435848 | 29435949 | 29435945 | 29435945 | Frame_Shift_Del | C | - | p.T581fs |
| LIHC | TCGA-BC-A112-01 | exon_skip_3494 exon_skip_3495 | 29319842 | 29320054 | 29319945 | 29319946 | Frame_Shift_Ins | - | A | p.*191fs |
| UCEC | TCGA-AX-A0J0-01 | exon_skip_3500 | 29344736 | 29344954 | 29344857 | 29344857 | Nonsense_Mutation | G | T | p.E308* |
| SKCM | TCGA-BF-A9VF-01 | exon_skip_3500 | 29344736 | 29344954 | 29344905 | 29344905 | Nonsense_Mutation | C | T | p.Q359* |
| SKCM | TCGA-BF-A5EO-01 | exon_skip_3502 | 29365766 | 29365938 | 29365824 | 29365824 | Nonsense_Mutation | C | T | p.R508* |
| SKCM | TCGA-WE-AAA3-06 | exon_skip_3502 | 29365766 | 29365938 | 29365824 | 29365824 | Nonsense_Mutation | C | T | p.R508* |
| STAD | TCGA-BR-4362-01 | exon_skip_3501 | 29359605 | 29359757 | 29359759 | 29359759 | Splice_Site | T | C | p.E455_splice |
| ESCA | TCGA-JY-A6FG-01 | exon_skip_3502 | 29365766 | 29365938 | 29365939 | 29365939 | Splice_Site | G | A | . |
| ESCA | TCGA-JY-A6FG-01 | exon_skip_3502 | 29365766 | 29365938 | 29365939 | 29365939 | Splice_Site | G | A | e10+1 |
| BLCA | TCGA-DK-A1A6-01 | exon_skip_3538 exon_skip_3539 | 29438880 | 29438960 | 29438879 | 29438879 | Splice_Site | G | C | p.T806_splice |
| - 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 |
| HCC1569_BREAST | 29385323 | 29385364 | 29385333 | 29385333 | Frame_Shift_Del | A | - | p.E638fs |
| SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29438880 | 29438960 | 29438885 | 29438885 | Frame_Shift_Del | A | - | p.V807fs |
| SNUC2A_LARGE_INTESTINE | 29385323 | 29385364 | 29385332 | 29385333 | Frame_Shift_Ins | - | A | p.E638fs |
| BB65EBV_MATCHED_NORMAL_TISSUE | 29319842 | 29320054 | 29319942 | 29319942 | Missense_Mutation | A | C | p.Q190P |
| LNZTA3WT4_CENTRAL_NERVOUS_SYSTEM | 29323727 | 29323831 | 29323737 | 29323737 | Missense_Mutation | A | C | p.K231T |
| LNZ308_CENTRAL_NERVOUS_SYSTEM | 29323727 | 29323831 | 29323737 | 29323737 | Missense_Mutation | A | C | p.K231T |
| MCCAR_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29323727 | 29323831 | 29323827 | 29323827 | Missense_Mutation | C | G | p.S261C |
| HCC38_BREAST | 29344736 | 29344954 | 29344761 | 29344761 | Missense_Mutation | C | G | p.Q311E |
| TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29344736 | 29344954 | 29344807 | 29344807 | Missense_Mutation | C | A | p.A326E |
| SW1271_LUNG | 29344736 | 29344954 | 29344890 | 29344890 | Missense_Mutation | A | C | p.K354Q |
| RERFLCAD2_LUNG | 29344736 | 29344954 | 29344911 | 29344911 | Missense_Mutation | A | C | p.K361Q |
| BCPAP_THYROID | 29344736 | 29344954 | 29344923 | 29344923 | Missense_Mutation | G | A | p.E365K |
| HSC1_SKIN | 29359605 | 29359757 | 29359657 | 29359657 | Missense_Mutation | T | C | p.V422A |
| RERFGC1B_STOMACH | 29365766 | 29365938 | 29365890 | 29365890 | Missense_Mutation | C | T | p.H530Y |
| HCT116_LARGE_INTESTINE | 29385101 | 29385157 | 29385129 | 29385129 | Missense_Mutation | T | C | p.V625A |
| A375_SKIN | 29385323 | 29385364 | 29385350 | 29385350 | Missense_Mutation | A | G | p.I644V |
| SW579_THYROID | 29385323 | 29385364 | 29385361 | 29385361 | Missense_Mutation | G | T | p.R647S |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 29424319 | 29424447 | 29424359 | 29424359 | Missense_Mutation | A | C | p.N742T |
| MN60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 29424319 | 29424447 | 29424362 | 29424362 | Missense_Mutation | C | T | p.A743V |
| LU65_LUNG | 29435848 | 29435949 | 29435855 | 29435855 | Missense_Mutation | A | G | p.D774G |
| HS936T_SKIN | 29435848 | 29435949 | 29435939 | 29435939 | Missense_Mutation | A | T | p.Q802L |
| MZ7MEL_SKIN | 29438880 | 29438960 | 29438893 | 29438893 | Missense_Mutation | G | A | p.G810E |
| HCC1937_BREAST | 29438880 | 29438960 | 29438934 | 29438934 | Missense_Mutation | G | A | p.G824R |
| HCC1937_MATCHED_NORMAL_TISSUE | 29438880 | 29438960 | 29438934 | 29438934 | Missense_Mutation | G | A | p.G824R |
| KNS60_CENTRAL_NERVOUS_SYSTEM | 29442211 | 29442315 | 29442270 | 29442270 | Missense_Mutation | G | C | p.K852N |
| MDAPCA2B_PROSTATE | 29442211 | 29442315 | 29442302 | 29442302 | Missense_Mutation | A | G | p.D863G |
| SNU1040_LARGE_INTESTINE | 29323727 | 29323831 | 29323739 | 29323739 | Nonsense_Mutation | G | T | p.G232* |
| JHUEM7_ENDOMETRIUM | 29344736 | 29344954 | 29344739 | 29344739 | Nonsense_Mutation | T | G | p.Y303* |
| CW2_LARGE_INTESTINE | 29435848 | 29435949 | 29435896 | 29435896 | Nonsense_Mutation | C | T | p.Q788* |
| BEN_LUNG | 29319842 | 29320054 | 29320054 | 29320054 | Splice_Site | G | A | p.E227E |
| EN_ENDOMETRIUM | 29442211 | 29442315 | 29442212 | 29442212 | Splice_Site | T | C | p.V833A |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41 |
| 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 |
| exon_skip_3540 | 1 | 29438879:29438960:29442210:29442315:29443330:29443626 | 29442210:29442315 | ENST00000398863.2,ENST00000460378.1,ENST00000343067.4,ENST00000349460.4,ENST00000347529.3,ENST00000373800.3,ENST00000373798.1,ENST00000356093.2 | COAD | rs536178 | chr1:29442291 | C/T | 3.66e-05 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41 |
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RelatedDrugs for EPB41 |
| 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 EPB41 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPB41 | C0025202 | melanoma | 1 | CTD_human |
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