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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 EPB41L1 |
 Gene summary |
| Gene information | Gene symbol | EPB41L1 | Gene ID | 2036 |
| Gene name | erythrocyte membrane protein band 4.1 like 1 | |
| Synonyms | 4.1N|MRD11 | |
| Cytomap | 20q11.23 | |
| Type of gene | protein-coding | |
| Description | band 4.1-like protein 1neuron-type nonerythroid protein 4.1neuronal protein 4.1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9H4G0 | |
| Context | PubMed: EPB41L1 [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 EPB41L1 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 EPB41L1 |
| 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 EPB41L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_350979 | 20 | 34679763:34679797:34700347:34700402:34763472:34763593 | 34700347:34700402 | ENSG00000088367.16 | ENST00000432589.1 |
| exon_skip_351000 | 20 | 34680653:34680735:34700347:34700402:34709581:34709738 | 34700347:34700402 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351008 | 20 | 34680653:34680735:34701614:34701721:34761685:34761729 | 34701614:34701721 | ENSG00000088367.16 | ENST00000452261.1 |
| exon_skip_351025 | 20 | 34680653:34680735:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000406771.2 |
| exon_skip_351034 | 20 | 34697654:34697808:34698618:34698756:34700347:34700402 | 34698618:34698756 | ENSG00000088367.16 | ENST00000447825.1 |
| exon_skip_351048 | 20 | 34700347:34700402:34709581:34709738:34763472:34763593 | 34709581:34709738 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351058 | 20 | 34700347:34700402:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000447825.1 |
| exon_skip_351066 | 20 | 34701614:34701721:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000452261.1 |
| exon_skip_351069 | 20 | 34709643:34709738:34710600:34710669:34713344:34713449 | 34710600:34710669 | ENSG00000088367.16 | ENST00000427533.1 |
| exon_skip_351083 | 20 | 34710600:34710669:34713344:34713449:34761685:34761729 | 34713344:34713449 | ENSG00000088367.16 | ENST00000427533.1 |
| exon_skip_351097 | 20 | 34742671:34742818:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000338074.2 |
| exon_skip_351102 | 20 | 34761690:34761876:34763472:34763637:34765873:34765978 | 34763472:34763637 | ENSG00000088367.16 | ENST00000406771.2,ENST00000452261.1,ENST00000373941.1,ENST00000338074.2 |
| exon_skip_351105 | 20 | 34763472:34763637:34765873:34765978:34766551:34766594 | 34765873:34765978 | ENSG00000088367.16 | ENST00000202028.5,ENST00000430276.1,ENST00000406771.2,ENST00000441639.1,ENST00000452261.1,ENST00000373945.1,ENST00000373941.1,ENST00000338074.2,ENST00000373946.3 |
| exon_skip_351106 | 20 | 34763472:34763637:34766551:34766594:34770193:34770207 | 34766551:34766594 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351107 | 20 | 34770193:34770269:34773038:34773257:34775597:34775685 | 34773038:34773257 | ENSG00000088367.16 | ENST00000373950.2,ENST00000202028.5,ENST00000430276.1,ENST00000441639.1,ENST00000373941.1,ENST00000338074.2,ENST00000373946.3 |
| exon_skip_351111 | 20 | 34782249:34782282:34783250:34783286:34785780:34785963 | 34783250:34783286 | ENSG00000088367.16 | ENST00000373941.1,ENST00000338074.2 |
| exon_skip_351113 | 20 | 34782136:34782282:34785780:34785963:34797409:34797820 | 34785780:34785963 | ENSG00000088367.16 | ENST00000373950.2,ENST00000202028.5,ENST00000441639.1 |
| exon_skip_351114 | 20 | 34782136:34782282:34785780:34785963:34800193:34800298 | 34785780:34785963 | ENSG00000088367.16 | ENST00000373946.3,ENST00000451082.1 |
| exon_skip_351122 | 20 | 34785801:34785963:34797409:34797820:34800193:34800298 | 34797409:34797820 | ENSG00000088367.16 | ENST00000373950.2,ENST00000202028.5,ENST00000441639.1,ENST00000373941.1,ENST00000338074.2 |
| exon_skip_351126 | 20 | 34800193:34800298:34802278:34802362:34806797:34806884 | 34802278:34802362 | ENSG00000088367.16 | ENST00000373950.2,ENST00000454226.1,ENST00000338074.2,ENST00000373946.3 |
| exon_skip_351130 | 20 | 34800193:34800298:34802281:34802362:34806797:34806884 | 34802281:34802362 | ENSG00000088367.16 | ENST00000373941.1,ENST00000451082.1 |
| exon_skip_351134 | 20 | 34800193:34800298:34806797:34806884:34807682:34807766 | 34806797:34806884 | ENSG00000088367.16 | ENST00000202028.5,ENST00000441639.1 |
| exon_skip_351142 | 20 | 34802294:34802362:34806797:34806884:34807682:34807766 | 34806797:34806884 | ENSG00000088367.16 | ENST00000373950.2,ENST00000454226.1,ENST00000373941.1,ENST00000338074.2,ENST00000373946.3,ENST00000451082.1 |
| exon_skip_351146 | 20 | 34802294:34802362:34807682:34807766:34809785:34809856 | 34807682:34807766 | ENSG00000088367.16 | ENST00000432603.1 |
| exon_skip_351147 | 20 | 34806800:34806884:34807682:34807766:34809785:34809856 | 34807682:34807766 | ENSG00000088367.16 | ENST00000373950.2,ENST00000454226.1,ENST00000202028.5,ENST00000441639.1,ENST00000373941.1,ENST00000338074.2,ENST00000373946.3,ENST00000451082.1 |
| exon_skip_351149 | 20 | 34807682:34807766:34809785:34809866:34810199:34810316 | 34809785:34809866 | ENSG00000088367.16 | ENST00000373950.2,ENST00000202028.5,ENST00000441639.1,ENST00000373941.1,ENST00000338074.2,ENST00000373946.3,ENST00000432603.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPB41L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_351000 | 20 | 34680653:34680735:34700347:34700402:34709581:34709738 | 34700347:34700402 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351008 | 20 | 34680653:34680735:34701614:34701721:34761685:34761729 | 34701614:34701721 | ENSG00000088367.16 | ENST00000452261.1 |
| exon_skip_351025 | 20 | 34680653:34680735:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000406771.2 |
| exon_skip_351034 | 20 | 34697654:34697808:34698618:34698756:34700347:34700402 | 34698618:34698756 | ENSG00000088367.16 | ENST00000447825.1 |
| exon_skip_351048 | 20 | 34700347:34700402:34709581:34709738:34763472:34763593 | 34709581:34709738 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351058 | 20 | 34700347:34700402:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000447825.1 |
| exon_skip_351069 | 20 | 34709643:34709738:34710600:34710669:34713344:34713449 | 34710600:34710669 | ENSG00000088367.16 | ENST00000427533.1 |
| exon_skip_351083 | 20 | 34710600:34710669:34713344:34713449:34761685:34761729 | 34713344:34713449 | ENSG00000088367.16 | ENST00000427533.1 |
| exon_skip_351097 | 20 | 34742671:34742818:34761685:34761876:34763472:34763593 | 34761685:34761876 | ENSG00000088367.16 | ENST00000338074.2 |
| exon_skip_351102 | 20 | 34761690:34761876:34763472:34763637:34765873:34765978 | 34763472:34763637 | ENSG00000088367.16 | ENST00000406771.2,ENST00000452261.1,ENST00000338074.2,ENST00000373941.1 |
| exon_skip_351105 | 20 | 34763472:34763637:34765873:34765978:34766551:34766594 | 34765873:34765978 | ENSG00000088367.16 | ENST00000202028.5,ENST00000406771.2,ENST00000430276.1,ENST00000452261.1,ENST00000441639.1,ENST00000373946.3,ENST00000373945.1,ENST00000338074.2,ENST00000373941.1 |
| exon_skip_351106 | 20 | 34763472:34763637:34766551:34766594:34770193:34770207 | 34766551:34766594 | ENSG00000088367.16 | ENST00000373950.2 |
| exon_skip_351107 | 20 | 34770193:34770269:34773038:34773257:34775597:34775685 | 34773038:34773257 | ENSG00000088367.16 | ENST00000202028.5,ENST00000430276.1,ENST00000373950.2,ENST00000441639.1,ENST00000373946.3,ENST00000338074.2,ENST00000373941.1 |
| exon_skip_351111 | 20 | 34782249:34782282:34783250:34783286:34785780:34785963 | 34783250:34783286 | ENSG00000088367.16 | ENST00000338074.2,ENST00000373941.1 |
| exon_skip_351113 | 20 | 34782136:34782282:34785780:34785963:34797409:34797820 | 34785780:34785963 | ENSG00000088367.16 | ENST00000202028.5,ENST00000373950.2,ENST00000441639.1 |
| exon_skip_351114 | 20 | 34782136:34782282:34785780:34785963:34800193:34800298 | 34785780:34785963 | ENSG00000088367.16 | ENST00000373946.3,ENST00000451082.1 |
| exon_skip_351122 | 20 | 34785801:34785963:34797409:34797820:34800193:34800298 | 34797409:34797820 | ENSG00000088367.16 | ENST00000202028.5,ENST00000373950.2,ENST00000441639.1,ENST00000338074.2,ENST00000373941.1 |
| exon_skip_351126 | 20 | 34800193:34800298:34802278:34802362:34806797:34806884 | 34802278:34802362 | ENSG00000088367.16 | ENST00000373950.2,ENST00000373946.3,ENST00000338074.2,ENST00000454226.1 |
| exon_skip_351130 | 20 | 34800193:34800298:34802281:34802362:34806797:34806884 | 34802281:34802362 | ENSG00000088367.16 | ENST00000373941.1,ENST00000451082.1 |
| exon_skip_351134 | 20 | 34800193:34800298:34806797:34806884:34807682:34807766 | 34806797:34806884 | ENSG00000088367.16 | ENST00000202028.5,ENST00000441639.1 |
| exon_skip_351142 | 20 | 34802294:34802362:34806797:34806884:34807682:34807766 | 34806797:34806884 | ENSG00000088367.16 | ENST00000373950.2,ENST00000373946.3,ENST00000338074.2,ENST00000373941.1,ENST00000451082.1,ENST00000454226.1 |
| exon_skip_351146 | 20 | 34802294:34802362:34807682:34807766:34809785:34809856 | 34807682:34807766 | ENSG00000088367.16 | ENST00000432603.1 |
| exon_skip_351147 | 20 | 34806800:34806884:34807682:34807766:34809785:34809856 | 34807682:34807766 | ENSG00000088367.16 | ENST00000202028.5,ENST00000373950.2,ENST00000441639.1,ENST00000373946.3,ENST00000338074.2,ENST00000373941.1,ENST00000451082.1,ENST00000454226.1 |
| 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 EPB41L1 |
| 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 |
| ENST00000338074 | 34761685 | 34761876 | 5CDS-5UTR |
| ENST00000338074 | 34763472 | 34763637 | In-frame |
| ENST00000338074 | 34765873 | 34765978 | In-frame |
| ENST00000338074 | 34773038 | 34773257 | In-frame |
| ENST00000338074 | 34783250 | 34783286 | In-frame |
| ENST00000338074 | 34797409 | 34797820 | In-frame |
| ENST00000338074 | 34802278 | 34802362 | In-frame |
| ENST00000338074 | 34806797 | 34806884 | In-frame |
| ENST00000338074 | 34807682 | 34807766 | In-frame |
| ENST00000338074 | 34809785 | 34809866 | 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 |
| ENST00000338074 | 34761685 | 34761876 | 5CDS-5UTR |
| ENST00000338074 | 34763472 | 34763637 | In-frame |
| ENST00000338074 | 34765873 | 34765978 | In-frame |
| ENST00000338074 | 34773038 | 34773257 | In-frame |
| ENST00000338074 | 34783250 | 34783286 | In-frame |
| ENST00000338074 | 34797409 | 34797820 | In-frame |
| ENST00000338074 | 34802278 | 34802362 | In-frame |
| ENST00000338074 | 34806797 | 34806884 | In-frame |
| ENST00000338074 | 34807682 | 34807766 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPB41L1 |
| 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 |
| ENST00000338074 | 6283 | 881 | 34763472 | 34763637 | 339 | 503 | 59 | 114 |
| ENST00000338074 | 6283 | 881 | 34765873 | 34765978 | 504 | 608 | 114 | 149 |
| ENST00000338074 | 6283 | 881 | 34773038 | 34773257 | 728 | 946 | 189 | 261 |
| ENST00000338074 | 6283 | 881 | 34783250 | 34783286 | 1611 | 1646 | 483 | 495 |
| ENST00000338074 | 6283 | 881 | 34797409 | 34797820 | 1830 | 2240 | 556 | 693 |
| ENST00000338074 | 6283 | 881 | 34802278 | 34802362 | 2346 | 2429 | 728 | 756 |
| ENST00000338074 | 6283 | 881 | 34806797 | 34806884 | 2430 | 2516 | 756 | 785 |
| ENST00000338074 | 6283 | 881 | 34807682 | 34807766 | 2517 | 2600 | 785 | 813 |
| ENST00000338074 | 6283 | 881 | 34809785 | 34809866 | 2601 | 2681 | 813 | 840 |
| 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 |
| ENST00000338074 | 6283 | 881 | 34763472 | 34763637 | 339 | 503 | 59 | 114 |
| ENST00000338074 | 6283 | 881 | 34765873 | 34765978 | 504 | 608 | 114 | 149 |
| ENST00000338074 | 6283 | 881 | 34773038 | 34773257 | 728 | 946 | 189 | 261 |
| ENST00000338074 | 6283 | 881 | 34783250 | 34783286 | 1611 | 1646 | 483 | 495 |
| ENST00000338074 | 6283 | 881 | 34797409 | 34797820 | 1830 | 2240 | 556 | 693 |
| ENST00000338074 | 6283 | 881 | 34802278 | 34802362 | 2346 | 2429 | 728 | 756 |
| ENST00000338074 | 6283 | 881 | 34806797 | 34806884 | 2430 | 2516 | 756 | 785 |
| ENST00000338074 | 6283 | 881 | 34807682 | 34807766 | 2517 | 2600 | 785 | 813 |
| 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 EPB41L1 |
| - 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 |
| MESO | TCGA-LK-A4O6-01 | exon_skip_351107 | 34773039 | 34773257 | 34773062 | 34773062 | Frame_Shift_Del | G | - | p.R197fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_351114 exon_skip_351113 | 34785781 | 34785963 | 34785917 | 34785917 | Frame_Shift_Del | C | - | p.S541fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_351122 | 34797410 | 34797820 | 34797416 | 34797416 | Frame_Shift_Del | G | - | p.G559fs |
| STAD | TCGA-BR-4184-01 | exon_skip_351122 | 34797410 | 34797820 | 34797730 | 34797730 | Frame_Shift_Del | G | - | p.K663fs |
| LUAD | TCGA-95-7039-01 | exon_skip_351149 | 34809786 | 34809866 | 34809839 | 34809840 | Frame_Shift_Ins | - | G | p.T831fs |
| LUAD | TCGA-95-7039-01 | exon_skip_351149 | 34809786 | 34809866 | 34809839 | 34809840 | Frame_Shift_Ins | - | G | p.TG831fs |
| BLCA | TCGA-UY-A78K-01 | exon_skip_351147 exon_skip_351146 | 34807683 | 34807766 | 34807738 | 34807738 | Nonsense_Mutation | C | G | p.S804* |
| THYM | TCGA-X7-A8M5-01 | exon_skip_351058 exon_skip_351097 exon_skip_351025 exon_skip_351066 | 34761686 | 34761876 | 34761684 | 34761684 | Splice_Site | A | G | . |
| THYM | TCGA-X7-A8M5-01 | exon_skip_351058 exon_skip_351097 exon_skip_351025 exon_skip_351066 | 34761686 | 34761876 | 34761684 | 34761684 | Splice_Site | A | G | e1-2 |
| CESC | TCGA-FU-A40J-01 | exon_skip_351102 | 34763473 | 34763637 | 34763472 | 34763472 | Splice_Site | G | C | e2-1 |
| - 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 |
| CW2_LARGE_INTESTINE | 34713345 | 34713449 | 34713377 | 34713377 | Frame_Shift_Del | G | - | p.L4fs |
| CORL32_LUNG | 34785781 | 34785963 | 34785837 | 34785837 | Frame_Shift_Del | C | - | p.L514fs |
| HEC59_ENDOMETRIUM | 34785781 | 34785963 | 34785917 | 34785917 | Frame_Shift_Del | C | - | p.S541fs |
| NCIH1930_LUNG | 34713345 | 34713449 | 34713400 | 34713400 | Missense_Mutation | C | G | p.P12R |
| HCC1569_BREAST | 34761686 | 34761876 | 34761706 | 34761706 | Missense_Mutation | A | G | p.T3A |
| ESS1_ENDOMETRIUM | 34761686 | 34761876 | 34761715 | 34761715 | Missense_Mutation | G | A | p.G6S |
| MDAMB453_BREAST | 34761686 | 34761876 | 34761725 | 34761725 | Missense_Mutation | C | T | p.S9F |
| HUPT4_PANCREAS | 34761686 | 34761876 | 34761730 | 34761730 | Missense_Mutation | G | A | p.V11M |
| KYAE1_OESOPHAGUS | 34761686 | 34761876 | 34761734 | 34761734 | Missense_Mutation | A | G | p.K12R |
| SKMES1_LUNG | 34761686 | 34761876 | 34761772 | 34761772 | Missense_Mutation | G | C | p.A25P |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34761686 | 34761876 | 34761802 | 34761802 | Missense_Mutation | G | A | p.A35T |
| NCIH2342_LUNG | 34763473 | 34763637 | 34763492 | 34763492 | Missense_Mutation | A | C | p.K66T |
| EFM192A_BREAST | 34763473 | 34763637 | 34763512 | 34763512 | Missense_Mutation | G | A | p.G73S |
| LOVO_LARGE_INTESTINE | 34763473 | 34763637 | 34763519 | 34763519 | Missense_Mutation | C | T | p.S75L |
| SARC9371_BONE | 34763473 | 34763637 | 34763552 | 34763552 | Missense_Mutation | C | T | p.S86L |
| BFTC905_URINARY_TRACT | 34763473 | 34763637 | 34763576 | 34763576 | Missense_Mutation | A | T | p.Y94F |
| CMK_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34766552 | 34766594 | 34766563 | 34766563 | Missense_Mutation | C | A | p.D153E |
| SW1271_LUNG | 34766552 | 34766594 | 34766592 | 34766592 | Missense_Mutation | G | T | p.R163L |
| EN_ENDOMETRIUM | 34773039 | 34773257 | 34773074 | 34773074 | Missense_Mutation | T | C | p.I201T |
| ISHIKAWAHERAKLIO02ER_ENDOMETRIUM | 34773039 | 34773257 | 34773104 | 34773104 | Missense_Mutation | C | T | p.T211M |
| M00921_SKIN | 34773039 | 34773257 | 34773171 | 34773172 | Missense_Mutation | GG | AA | p.G234S |
| HCT15_LARGE_INTESTINE | 34773039 | 34773257 | 34773199 | 34773199 | Missense_Mutation | G | A | p.A243T |
| NALM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34773039 | 34773257 | 34773215 | 34773215 | Missense_Mutation | G | A | p.R248Q |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 34785781 | 34785963 | 34785894 | 34785894 | Missense_Mutation | A | T | p.E533D |
| HCT15_LARGE_INTESTINE | 34785781 | 34785963 | 34785902 | 34785902 | Missense_Mutation | G | A | p.R536H |
| HEC1A_ENDOMETRIUM | 34785781 | 34785963 | 34785902 | 34785902 | Missense_Mutation | G | A | p.R536H |
| HEC1_ENDOMETRIUM | 34785781 | 34785963 | 34785902 | 34785902 | Missense_Mutation | G | A | p.R536H |
| HEC1B_ENDOMETRIUM | 34785781 | 34785963 | 34785902 | 34785902 | Missense_Mutation | G | A | p.R536H |
| A101D_SKIN | 34785781 | 34785963 | 34785940 | 34785940 | Missense_Mutation | G | A | p.G549S |
| HS294T_SKIN | 34785781 | 34785963 | 34785940 | 34785940 | Missense_Mutation | G | A | p.G549S |
| NCIH660_PROSTATE | 34785781 | 34785963 | 34785947 | 34785947 | Missense_Mutation | C | G | p.P551R |
| 697_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34785781 | 34785963 | 34785947 | 34785947 | Missense_Mutation | C | G | p.P551R |
| BICR18_UPPER_AERODIGESTIVE_TRACT | 34785781 | 34785963 | 34785959 | 34785959 | Missense_Mutation | A | G | p.N555S |
| SISO_CERVIX | 34797410 | 34797820 | 34797429 | 34797429 | Missense_Mutation | G | A | p.G563D |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34797410 | 34797820 | 34797429 | 34797429 | Missense_Mutation | G | A | p.G563D |
| SF172_CENTRAL_NERVOUS_SYSTEM | 34797410 | 34797820 | 34797508 | 34797508 | Missense_Mutation | G | T | p.R589S |
| COLO792_SKIN | 34797410 | 34797820 | 34797671 | 34797671 | Missense_Mutation | G | A | p.D644N |
| TOV21G_OVARY | 34797410 | 34797820 | 34797674 | 34797674 | Missense_Mutation | C | T | p.R645W |
| BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34797410 | 34797820 | 34797717 | 34797717 | Missense_Mutation | G | A | p.R659Q |
| NCIH2110_LUNG | 34797410 | 34797820 | 34797729 | 34797729 | Missense_Mutation | A | T | p.K663M |
| DU145_PROSTATE | 34797410 | 34797820 | 34797788 | 34797788 | Missense_Mutation | G | A | p.A683T |
| HEC6_ENDOMETRIUM | 34797410 | 34797820 | 34797792 | 34797792 | Missense_Mutation | G | A | p.C684Y |
| SQ1_LUNG | 34802282 | 34802362 | 34802348 | 34802348 | Missense_Mutation | A | G | p.I752V |
| SQ1_LUNG | 34802279 | 34802362 | 34802348 | 34802348 | Missense_Mutation | A | G | p.I752V |
| HEC251_ENDOMETRIUM | 34806798 | 34806884 | 34806852 | 34806852 | Missense_Mutation | A | G | p.T775A |
| CROAP3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 34807683 | 34807766 | 34807689 | 34807689 | Missense_Mutation | G | A | p.G788R |
| WM88_SKIN | 34809786 | 34809866 | 34809855 | 34809855 | Missense_Mutation | G | A | p.D837N |
| NCIH1573_LUNG | 34797410 | 34797820 | 34797488 | 34797488 | Nonsense_Mutation | G | T | p.E583* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41L1 |
| 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 EPB41L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41L1 |
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RelatedDrugs for EPB41L1 |
| 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 EPB41L1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| EPB41L1 | C3280285 | MENTAL RETARDATION, AUTOSOMAL DOMINANT 11 | 1 | UNIPROT |
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