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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 EPB41L4A |
 Gene summary |
| Gene information | Gene symbol | EPB41L4A | Gene ID | 64097 |
| Gene name | erythrocyte membrane protein band 4.1 like 4A | |
| Synonyms | EPB41L4|NBL4 | |
| Cytomap | 5q22.1-q22.2 | |
| Type of gene | protein-coding | |
| Description | band 4.1-like protein 4Aerythrocyte protein band 4.1-like 4 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HCS5 | |
| Context | PubMed: EPB41L4A [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 EPB41L4A 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 EPB41L4A |
| 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 EPB41L4A |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443473 | 5 | 111481577:111481695:111494097:111494139:111504435:111504517 | 111494097:111494139 | ENSG00000129595.8 | ENST00000507810.1 |
| exon_skip_443476 | 5 | 111530264:111530342:111531357:111531405:111540071:111540185 | 111531357:111531405 | ENSG00000129595.8 | ENST00000515047.1,ENST00000507810.1,ENST00000261486.5 |
| exon_skip_443477 | 5 | 111540071:111540185:111541117:111541201:111545588:111545669 | 111541117:111541201 | ENSG00000129595.8 | ENST00000507810.1,ENST00000261486.5 |
| exon_skip_443487 | 5 | 111541117:111541201:111545588:111545679:111570330:111570446 | 111545588:111545679 | ENSG00000129595.8 | ENST00000261486.5 |
| exon_skip_443493 | 5 | 111545588:111545679:111570330:111570452:111575356:111575434 | 111570330:111570452 | ENSG00000129595.8 | ENST00000261486.5 |
| exon_skip_443495 | 5 | 111576415:111576507:111594925:111594989:111595587:111595676 | 111594925:111594989 | ENSG00000129595.8 | ENST00000261486.5,ENST00000511405.1 |
| exon_skip_443499 | 5 | 111615968:111616020:111643082:111643187:111754637:111755010 | 111643082:111643187 | ENSG00000129595.8 | ENST00000261486.5,ENST00000305368.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPB41L4A |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_443473 | 5 | 111481577:111481695:111494097:111494139:111504435:111504517 | 111494097:111494139 | ENSG00000129595.8 | ENST00000507810.1 |
| exon_skip_443476 | 5 | 111530264:111530342:111531357:111531405:111540071:111540185 | 111531357:111531405 | ENSG00000129595.8 | ENST00000507810.1,ENST00000261486.5,ENST00000515047.1 |
| exon_skip_443477 | 5 | 111540071:111540185:111541117:111541201:111545588:111545669 | 111541117:111541201 | ENSG00000129595.8 | ENST00000507810.1,ENST00000261486.5 |
| exon_skip_443487 | 5 | 111541117:111541201:111545588:111545679:111570330:111570446 | 111545588:111545679 | ENSG00000129595.8 | ENST00000261486.5 |
| exon_skip_443493 | 5 | 111545588:111545679:111570330:111570452:111575356:111575434 | 111570330:111570452 | ENSG00000129595.8 | ENST00000261486.5 |
| exon_skip_443495 | 5 | 111576415:111576507:111594925:111594989:111595587:111595676 | 111594925:111594989 | ENSG00000129595.8 | ENST00000261486.5,ENST00000511405.1 |
| exon_skip_443499 | 5 | 111615968:111616020:111643082:111643187:111754637:111755010 | 111643082:111643187 | ENSG00000129595.8 | ENST00000261486.5,ENST00000305368.4 |
| 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 EPB41L4A |
| 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 |
| ENST00000261486 | 111545588 | 111545679 | Frame-shift |
| ENST00000261486 | 111570330 | 111570452 | Frame-shift |
| ENST00000261486 | 111594925 | 111594989 | Frame-shift |
| ENST00000261486 | 111531357 | 111531405 | In-frame |
| ENST00000261486 | 111541117 | 111541201 | In-frame |
| ENST00000261486 | 111643082 | 111643187 | 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 |
| ENST00000261486 | 111545588 | 111545679 | Frame-shift |
| ENST00000261486 | 111570330 | 111570452 | Frame-shift |
| ENST00000261486 | 111594925 | 111594989 | Frame-shift |
| ENST00000261486 | 111531357 | 111531405 | In-frame |
| ENST00000261486 | 111541117 | 111541201 | In-frame |
| ENST00000261486 | 111643082 | 111643187 | In-frame |
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Infer the effects of exon skipping event on protein functional features for EPB41L4A |
| 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 |
| ENST00000261486 | 4724 | 686 | 111643082 | 111643187 | 377 | 481 | 33 | 68 |
| ENST00000261486 | 4724 | 686 | 111541117 | 111541201 | 1456 | 1539 | 393 | 420 |
| ENST00000261486 | 4724 | 686 | 111531357 | 111531405 | 1654 | 1701 | 459 | 474 |
| 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 |
| ENST00000261486 | 4724 | 686 | 111643082 | 111643187 | 377 | 481 | 33 | 68 |
| ENST00000261486 | 4724 | 686 | 111541117 | 111541201 | 1456 | 1539 | 393 | 420 |
| ENST00000261486 | 4724 | 686 | 111531357 | 111531405 | 1654 | 1701 | 459 | 474 |
| 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 |
| Q9HCS5 | 33 | 68 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
| Q9HCS5 | 33 | 68 | 11 | 299 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9HCS5 | 393 | 420 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
| Q9HCS5 | 393 | 420 | 393 | 393 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9HCS5 | 393 | 420 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983 |
| Q9HCS5 | 393 | 420 | 411 | 413 | Sequence conflict | Note=HAP->LMHS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9HCS5 | 459 | 474 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
| 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 |
| Q9HCS5 | 33 | 68 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
| Q9HCS5 | 33 | 68 | 11 | 299 | Domain | Note=FERM;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00084 |
| Q9HCS5 | 393 | 420 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
| Q9HCS5 | 393 | 420 | 393 | 393 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| Q9HCS5 | 393 | 420 | 402 | 402 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:17081983;Dbxref=PMID:17081983 |
| Q9HCS5 | 393 | 420 | 411 | 413 | Sequence conflict | Note=HAP->LMHS;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9HCS5 | 459 | 474 | 1 | 686 | Chain | ID=PRO_0000219401;Note=Band 4.1-like protein 4A |
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SNVs in the skipped exons for EPB41L4A |
| - 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. |
EPB41L4A_LUAD_exon_skip_443476_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-G3-A3CJ-01 | exon_skip_443477 | 111541118 | 111541201 | 111541130 | 111541130 | Frame_Shift_Del | T | - | p.N417fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443477 | 111541118 | 111541201 | 111541137 | 111541137 | Frame_Shift_Del | C | - | p.E416fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443487 | 111545589 | 111545679 | 111545590 | 111545590 | Frame_Shift_Del | T | - | p.S393fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_443493 | 111570331 | 111570452 | 111570343 | 111570343 | Frame_Shift_Del | T | - | p.T359fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_443493 | 111570331 | 111570452 | 111570360 | 111570360 | Frame_Shift_Del | G | - | p.P353fs |
| LGG | TCGA-DU-6392-01 | exon_skip_443493 | 111570331 | 111570452 | 111570340 | 111570340 | Nonsense_Mutation | G | A | p.Q360* |
| READ | TCGA-F5-6814-01 | exon_skip_443493 | 111570331 | 111570452 | 111570355 | 111570355 | Nonsense_Mutation | G | A | p.R355X |
| LUAD | TCGA-91-6829-01 | exon_skip_443476 | 111531358 | 111531405 | 111531407 | 111531407 | Splice_Site | T | C | p.R459_splice |
| COAD | TCGA-AZ-6598-01 | exon_skip_443495 | 111594926 | 111594989 | 111594991 | 111594992 | Splice_Site | - | A | . |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-91-6829-01 |
| Cancer type: LUAD | |
| ESID: exon_skip_443476 | |
| Skipped exon start: 111531358 | |
| Skipped exon end: 111531405 | |
| Mutation start: 111531407 | |
| Mutation end: 111531407 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: C | |
| AAchange: p.R459_splice | |
exon_skip_286384_LUAD_TCGA-91-6829-01.png | |
exon_skip_316803_LUAD_TCGA-91-6829-01.png | |
exon_skip_388682_LUAD_TCGA-91-6829-01.png | |
exon_skip_443476_LUAD_TCGA-91-6829-01.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 |
| HCC2998_LARGE_INTESTINE | 111541118 | 111541201 | 111541137 | 111541137 | Missense_Mutation | C | T | p.E415K |
| SNU1040_LARGE_INTESTINE | 111541118 | 111541201 | 111541186 | 111541186 | Missense_Mutation | C | A | p.K398N |
| HOS_BONE | 111545589 | 111545679 | 111545655 | 111545655 | Missense_Mutation | G | T | p.T371N |
| KARPAS1106P_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111570331 | 111570452 | 111570393 | 111570393 | Missense_Mutation | T | C | p.Q342R |
| SC1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111570331 | 111570452 | 111570403 | 111570403 | Missense_Mutation | G | A | p.R339W |
| SCI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111570331 | 111570452 | 111570403 | 111570403 | Missense_Mutation | G | A | p.R339W |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111570331 | 111570452 | 111570415 | 111570415 | Missense_Mutation | T | C | p.I335V |
| DU145_PROSTATE | 111570331 | 111570452 | 111570450 | 111570450 | Missense_Mutation | C | G | p.G323A |
| HCC2157_BREAST | 111594926 | 111594989 | 111594930 | 111594930 | Missense_Mutation | T | C | p.K264R |
| HCC2157_MATCHED_NORMAL_TISSUE | 111594926 | 111594989 | 111594930 | 111594930 | Missense_Mutation | T | C | p.K264R |
| SNU1040_LARGE_INTESTINE | 111594926 | 111594989 | 111594934 | 111594934 | Missense_Mutation | C | T | p.G263R |
| SKLMS1_SOFT_TISSUE | 111594926 | 111594989 | 111594985 | 111594985 | Missense_Mutation | G | A | p.R246W |
| MTA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 111643083 | 111643187 | 111643087 | 111643087 | Missense_Mutation | T | C | p.Q67R |
| CORL23_LUNG | 111570331 | 111570452 | 111570355 | 111570355 | Nonsense_Mutation | G | A | p.R355* |
| LNCAPCLONEFGC_PROSTATE | 111531358 | 111531405 | 111531358 | 111531358 | Splice_Site | C | A | p.R475M |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPB41L4A |
| 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 EPB41L4A |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPB41L4A |
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RelatedDrugs for EPB41L4A |
| 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 EPB41L4A |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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