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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 EPS8L1 |
 Gene summary |
| Gene information | Gene symbol | EPS8L1 | Gene ID | 54869 |
| Gene name | EPS8 like 1 | |
| Synonyms | DRC3|EPS8R1|PP10566 | |
| Cytomap | 19q13.42 | |
| Type of gene | protein-coding | |
| Description | epidermal growth factor receptor kinase substrate 8-like protein 1EPS8-like protein 1EPS8-related protein 1epidermal growth factor receptor pathway substrate 8-related protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8TE68 | |
| Context | PubMed: EPS8L1 [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 |
| EPS8L1 | GO:0007266 | Rho protein signal transduction | 14565974 |
| EPS8L1 | GO:0035023 | regulation of Rho protein signal transduction | 14565974 |
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Exon skipping events across known transcript of Ensembl for EPS8L1 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 EPS8L1 |
| 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 EPS8L1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311586 | 19 | 55587270:55587287:55587775:55587829:55591057:55591219 | 55587775:55587829 | ENSG00000131037.10 | ENST00000540810.1 |
| exon_skip_311589 | 19 | 55587775:55587829:55589455:55589496:55590366:55590425 | 55589455:55589496 | ENSG00000131037.10 | ENST00000592824.1,ENST00000591219.1,ENST00000201647.6 |
| exon_skip_311591 | 19 | 55587775:55587829:55589455:55589496:55591057:55591219 | 55589455:55589496 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311599 | 19 | 55587775:55587829:55591057:55591219:55591496:55591551 | 55591057:55591219 | ENSG00000131037.10 | ENST00000540810.1 |
| exon_skip_311602 | 19 | 55589460:55589496:55590366:55590425:55591057:55591219 | 55590366:55590425 | ENSG00000131037.10 | ENST00000592824.1,ENST00000591219.1,ENST00000201647.6 |
| exon_skip_311607 | 19 | 55589460:55589496:55591057:55591219:55591496:55591551 | 55591057:55591219 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311610 | 19 | 55591496:55591646:55592139:55592222:55592598:55592695 | 55592139:55592222 | ENSG00000131037.10 | ENST00000592824.1,ENST00000587786.1,ENST00000540810.1,ENST00000586329.1,ENST00000201647.6 |
| exon_skip_311611 | 19 | 55591759:55591909:55592139:55592222:55592598:55592695 | 55592139:55592222 | ENSG00000131037.10 | ENST00000245618.5 |
| exon_skip_311613 | 19 | 55594983:55595012:55595134:55596010:55597208:55597260 | 55595134:55596010 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311618 | 19 | 55594983:55595012:55597208:55597341:55597428:55597560 | 55597208:55597341 | ENSG00000131037.10 | ENST00000589362.1,ENST00000540810.1,ENST00000592102.1,ENST00000588359.1,ENST00000201647.6,ENST00000245618.5 |
| exon_skip_311620 | 19 | 55597764:55597886:55598081:55598256:55598670:55598803 | 55598081:55598256 | ENSG00000131037.10 | ENST00000589362.1,ENST00000540810.1,ENST00000592102.1,ENST00000588359.1,ENST00000201647.6,ENST00000245618.5 |
| exon_skip_311624 | 19 | 55598144:55598256:55598670:55598803:55598895:55599057 | 55598670:55598803 | ENSG00000131037.10 | ENST00000589362.1,ENST00000540810.1,ENST00000592102.1,ENST00000588359.1,ENST00000201647.6,ENST00000245618.5 |
| exon_skip_311626 | 19 | 55598144:55598256:55598722:55598803:55598895:55599057 | 55598722:55598803 | ENSG00000131037.10 | ENST00000587901.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for EPS8L1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_311586 | 19 | 55587270:55587287:55587775:55587829:55591057:55591219 | 55587775:55587829 | ENSG00000131037.10 | ENST00000540810.1 |
| exon_skip_311589 | 19 | 55587775:55587829:55589455:55589496:55590366:55590425 | 55589455:55589496 | ENSG00000131037.10 | ENST00000592824.1,ENST00000591219.1,ENST00000201647.6 |
| exon_skip_311591 | 19 | 55587775:55587829:55589455:55589496:55591057:55591219 | 55589455:55589496 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311599 | 19 | 55587775:55587829:55591057:55591219:55591496:55591551 | 55591057:55591219 | ENSG00000131037.10 | ENST00000540810.1 |
| exon_skip_311602 | 19 | 55589460:55589496:55590366:55590425:55591057:55591219 | 55590366:55590425 | ENSG00000131037.10 | ENST00000592824.1,ENST00000591219.1,ENST00000201647.6 |
| exon_skip_311607 | 19 | 55589460:55589496:55591057:55591219:55591496:55591551 | 55591057:55591219 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311610 | 19 | 55591496:55591646:55592139:55592222:55592598:55592695 | 55592139:55592222 | ENSG00000131037.10 | ENST00000586329.1,ENST00000592824.1,ENST00000201647.6,ENST00000540810.1,ENST00000587786.1 |
| exon_skip_311611 | 19 | 55591759:55591909:55592139:55592222:55592598:55592695 | 55592139:55592222 | ENSG00000131037.10 | ENST00000245618.5 |
| exon_skip_311613 | 19 | 55594983:55595012:55595134:55596010:55597208:55597260 | 55595134:55596010 | ENSG00000131037.10 | ENST00000587786.1 |
| exon_skip_311618 | 19 | 55594983:55595012:55597208:55597341:55597428:55597560 | 55597208:55597341 | ENSG00000131037.10 | ENST00000201647.6,ENST00000540810.1,ENST00000588359.1,ENST00000245618.5,ENST00000592102.1,ENST00000589362.1 |
| exon_skip_311620 | 19 | 55597764:55597886:55598081:55598256:55598670:55598803 | 55598081:55598256 | ENSG00000131037.10 | ENST00000201647.6,ENST00000540810.1,ENST00000588359.1,ENST00000245618.5,ENST00000592102.1,ENST00000589362.1 |
| exon_skip_311624 | 19 | 55598144:55598256:55598670:55598803:55598895:55599057 | 55598670:55598803 | ENSG00000131037.10 | ENST00000201647.6,ENST00000540810.1,ENST00000588359.1,ENST00000245618.5,ENST00000592102.1,ENST00000589362.1 |
| exon_skip_311626 | 19 | 55598144:55598256:55598722:55598803:55598895:55599057 | 55598722:55598803 | ENSG00000131037.10 | ENST00000587901.1 |
| 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 EPS8L1 |
| 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 |
| ENST00000201647 | 55589455 | 55589496 | Frame-shift |
| ENST00000201647 | 55590366 | 55590425 | Frame-shift |
| ENST00000201647 | 55592139 | 55592222 | Frame-shift |
| ENST00000201647 | 55597208 | 55597341 | Frame-shift |
| ENST00000201647 | 55598081 | 55598256 | Frame-shift |
| ENST00000201647 | 55598670 | 55598803 | Frame-shift |
| 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 |
| ENST00000201647 | 55589455 | 55589496 | Frame-shift |
| ENST00000201647 | 55590366 | 55590425 | Frame-shift |
| ENST00000201647 | 55592139 | 55592222 | Frame-shift |
| ENST00000201647 | 55597208 | 55597341 | Frame-shift |
| ENST00000201647 | 55598081 | 55598256 | Frame-shift |
| ENST00000201647 | 55598670 | 55598803 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for EPS8L1 |
| 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 |
| 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 |
| 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 EPS8L1 |
| - 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-A3A0-01 | exon_skip_311618 | 55597209 | 55597341 | 55597268 | 55597268 | Frame_Shift_Del | G | - | p.W482fs |
| THYM | TCGA-X7-A8DB-01 | exon_skip_311620 | 55598082 | 55598256 | 55598164 | 55598164 | Frame_Shift_Del | C | - | p.P621fs |
| THYM | TCGA-X7-A8DB-01 | exon_skip_311620 | 55598082 | 55598256 | 55598164 | 55598164 | Frame_Shift_Del | C | - | p.V620fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_311624 | 55598671 | 55598803 | 55598755 | 55598755 | Frame_Shift_Del | G | - | p.E679fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_311626 | 55598723 | 55598803 | 55598755 | 55598755 | Frame_Shift_Del | G | - | p.E679fs |
| PAAD | TCGA-IB-7651-01 | exon_skip_311607 exon_skip_311599 | 55591058 | 55591219 | 55591075 | 55591075 | Nonsense_Mutation | C | A | p.C45* |
| PAAD | TCGA-IB-7651-01 | exon_skip_311607 exon_skip_311599 | 55591058 | 55591219 | 55591075 | 55591075 | Nonsense_Mutation | C | A | p.C45X |
| COAD | TCGA-D5-6927-01 | exon_skip_311607 exon_skip_311599 | 55591058 | 55591219 | 55591175 | 55591175 | Nonsense_Mutation | C | T | p.R79X |
| BLCA | TCGA-CF-A47X-01 | exon_skip_311624 | 55598671 | 55598803 | 55598801 | 55598801 | Nonsense_Mutation | G | T | p.E695* |
| BLCA | TCGA-CF-A47X-01 | exon_skip_311626 | 55598723 | 55598803 | 55598801 | 55598801 | Nonsense_Mutation | G | T | p.E695* |
| SKCM | TCGA-EE-A3JE-06 | exon_skip_311589 exon_skip_311591 | 55589456 | 55589496 | 55589497 | 55589497 | Splice_Site | G | A | . |
| - 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 |
| JURKAT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55598082 | 55598256 | 55598107 | 55598108 | Frame_Shift_Ins | - | A | p.N602fs |
| SH10TC_STOMACH | 55590367 | 55590425 | 55590379 | 55590379 | Missense_Mutation | G | A | p.R24H |
| SNU1040_LARGE_INTESTINE | 55591058 | 55591219 | 55591113 | 55591113 | Missense_Mutation | C | T | p.A58V |
| UMUC6_URINARY_TRACT | 55591058 | 55591219 | 55591182 | 55591182 | Missense_Mutation | C | T | p.S81F |
| SNU5_STOMACH | 55592140 | 55592222 | 55592173 | 55592173 | Missense_Mutation | C | A | p.L155M |
| CMLT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55597209 | 55597341 | 55597286 | 55597286 | Missense_Mutation | A | T | p.D488V |
| HCT15_LARGE_INTESTINE | 55598082 | 55598256 | 55598157 | 55598157 | Missense_Mutation | G | A | p.R618H |
| NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 55598082 | 55598256 | 55598166 | 55598166 | Missense_Mutation | C | G | p.P621R |
| KALS1_CENTRAL_NERVOUS_SYSTEM | 55598671 | 55598803 | 55598675 | 55598675 | Missense_Mutation | G | A | p.V653M |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 55598723 | 55598803 | 55598757 | 55598757 | Missense_Mutation | G | A | p.G680E |
| NMCG1_CENTRAL_NERVOUS_SYSTEM | 55598671 | 55598803 | 55598757 | 55598757 | Missense_Mutation | G | A | p.G680E |
| LN215_CENTRAL_NERVOUS_SYSTEM | 55598723 | 55598803 | 55598762 | 55598762 | Missense_Mutation | C | T | p.R682C |
| LN215_CENTRAL_NERVOUS_SYSTEM | 55598671 | 55598803 | 55598762 | 55598762 | Missense_Mutation | C | T | p.R682C |
| YD38_UPPER_AERODIGESTIVE_TRACT | 55598723 | 55598803 | 55598783 | 55598783 | Missense_Mutation | G | A | p.V689M |
| YD38_UPPER_AERODIGESTIVE_TRACT | 55598671 | 55598803 | 55598783 | 55598783 | Missense_Mutation | G | A | p.V689M |
| HEC6_ENDOMETRIUM | 55598723 | 55598803 | 55598786 | 55598786 | Nonsense_Mutation | C | T | p.Q690* |
| HEC6_ENDOMETRIUM | 55598671 | 55598803 | 55598786 | 55598786 | Nonsense_Mutation | C | T | p.Q690* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for EPS8L1 |
| 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_311626 | 19 | 55598144:55598256:55598722:55598803:55598895:55599057 | 55598722:55598803 | ENST00000587901.1 | PRAD | rs1054940 | chr19:55598724 | A/G | 6.23e-08 |
| exon_skip_311624 | 19 | 55598144:55598256:55598670:55598803:55598895:55599057 | 55598670:55598803 | ENST00000589362.1,ENST00000540810.1,ENST00000592102.1,ENST00000588359.1,ENST00000201647.6,ENST00000245618.5 | PRAD | rs1054940 | chr19:55598724 | A/G | 6.23e-08 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPS8L1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for EPS8L1 |
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RelatedDrugs for EPS8L1 |
| 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 EPS8L1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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