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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 SREK1 |
 Gene summary |
| Gene information | Gene symbol | SREK1 | Gene ID | 140890 |
| Gene name | splicing regulatory glutamic acid and lysine rich protein 1 | |
| Synonyms | SFRS12|SRrp508|SRrp86 | |
| Cytomap | 5q12.3 | |
| Type of gene | protein-coding | |
| Description | splicing regulatory glutamine/lysine-rich protein 1serine-arginine-rich splicing regulatory protein 508serine/arginine-rich-splicing regulatory protein 86splicing factor, arginine/serine-rich 12splicing regulatory glutamic acid/lysine-rich protein 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WXA9 | |
| Context | PubMed: SREK1 [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 SREK1 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 SREK1 |
| 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 SREK1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435089 | 5 | 65449395:65449424:65451892:65454760:65455046:65455162 | 65451892:65454760 | ENSG00000153914.11 | ENST00000524111.1 |
| exon_skip_435091 | 5 | 65449395:65449424:65454636:65454760:65455046:65455162 | 65454636:65454760 | ENSG00000153914.11 | ENST00000380918.3,ENST00000522912.1,ENST00000520953.1,ENST00000521691.1 |
| exon_skip_435096 | 5 | 65459619:65459750:65460435:65460725:65465878:65465998 | 65460435:65460725 | ENSG00000153914.11 | ENST00000523655.1 |
| exon_skip_435098 | 5 | 65459619:65459750:65460610:65460725:65465878:65465998 | 65460610:65460725 | ENSG00000153914.11 | ENST00000380918.3,ENST00000522912.1,ENST00000334121.6,ENST00000520953.1,ENST00000284041.3,ENST00000520580.1,ENST00000524111.1 |
| exon_skip_435102 | 5 | 65465884:65465998:65466412:65466775:65470773:65470869 | 65466412:65466775 | ENSG00000153914.11 | ENST00000380918.3,ENST00000519259.1,ENST00000522912.1,ENST00000334121.6,ENST00000520953.1,ENST00000284041.3 |
| exon_skip_435105 | 5 | 65470773:65470869:65473341:65473486:65474546:65474685 | 65473341:65473486 | ENSG00000153914.11 | ENST00000380918.3,ENST00000519259.1,ENST00000522214.1,ENST00000334121.6,ENST00000520953.1,ENST00000284041.3 |
| exon_skip_435106 | 5 | 65470773:65470869:65473344:65473486:65474546:65474685 | 65473344:65473486 | ENSG00000153914.11 | ENST00000522912.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SREK1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_435089 | 5 | 65449395:65449424:65451892:65454760:65455046:65455162 | 65451892:65454760 | ENSG00000153914.11 | ENST00000524111.1 |
| exon_skip_435091 | 5 | 65449395:65449424:65454636:65454760:65455046:65455162 | 65454636:65454760 | ENSG00000153914.11 | ENST00000521691.1,ENST00000522912.1,ENST00000520953.1,ENST00000380918.3 |
| exon_skip_435096 | 5 | 65459619:65459750:65460435:65460725:65465878:65465998 | 65460435:65460725 | ENSG00000153914.11 | ENST00000523655.1 |
| exon_skip_435098 | 5 | 65459619:65459750:65460610:65460725:65465878:65465998 | 65460610:65460725 | ENSG00000153914.11 | ENST00000334121.6,ENST00000522912.1,ENST00000520953.1,ENST00000524111.1,ENST00000380918.3,ENST00000284041.3,ENST00000520580.1 |
| exon_skip_435102 | 5 | 65465884:65465998:65466412:65466775:65470773:65470869 | 65466412:65466775 | ENSG00000153914.11 | ENST00000334121.6,ENST00000522912.1,ENST00000520953.1,ENST00000380918.3,ENST00000284041.3,ENST00000519259.1 |
| exon_skip_435105 | 5 | 65470773:65470869:65473341:65473486:65474546:65474685 | 65473341:65473486 | ENSG00000153914.11 | ENST00000334121.6,ENST00000520953.1,ENST00000380918.3,ENST00000284041.3,ENST00000519259.1,ENST00000522214.1 |
| exon_skip_435106 | 5 | 65470773:65470869:65473344:65473486:65474546:65474685 | 65473344:65473486 | ENSG00000153914.11 | ENST00000522912.1 |
| 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 SREK1 |
| 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 |
| ENST00000380918 | 65454636 | 65454760 | 5UTR-5UTR |
| ENST00000380918 | 65460610 | 65460725 | Frame-shift |
| ENST00000380918 | 65473341 | 65473486 | Frame-shift |
| ENST00000380918 | 65466412 | 65466775 | 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 |
| ENST00000380918 | 65454636 | 65454760 | 5UTR-5UTR |
| ENST00000380918 | 65460610 | 65460725 | Frame-shift |
| ENST00000380918 | 65473341 | 65473486 | Frame-shift |
| ENST00000380918 | 65466412 | 65466775 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SREK1 |
| 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 |
| ENST00000380918 | 2450 | 508 | 65466412 | 65466775 | 1434 | 1796 | 258 | 378 |
| 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 |
| ENST00000380918 | 2450 | 508 | 65466412 | 65466775 | 1434 | 1796 | 258 | 378 |
| 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 |
| Q8WXA9 | 258 | 378 | 1 | 508 | Chain | ID=PRO_0000081940;Note=Splicing regulatory glutamine/lysine-rich protein 1 |
| Q8WXA9 | 258 | 378 | 190 | 474 | Compositional bias | Note=Arg/Glu/Lys/Ser-rich |
| Q8WXA9 | 258 | 378 | 363 | 363 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
| 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 |
| Q8WXA9 | 258 | 378 | 1 | 508 | Chain | ID=PRO_0000081940;Note=Splicing regulatory glutamine/lysine-rich protein 1 |
| Q8WXA9 | 258 | 378 | 190 | 474 | Compositional bias | Note=Arg/Glu/Lys/Ser-rich |
| Q8WXA9 | 258 | 378 | 363 | 363 | Modified residue | Note=Phosphothreonine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:23186163;Dbxref=PMID:23186163 |
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SNVs in the skipped exons for SREK1 |
| - 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. |
SREK1_HNSC_exon_skip_435102_psi_boxplot.png |
SREK1_LIHC_exon_skip_435102_psi_boxplot.png |
SREK1_READ_exon_skip_435102_psi_boxplot.png |
SREK1_STAD_exon_skip_435102_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 |
| UCEC | TCGA-BG-A0LX-01 | exon_skip_435102 | 65466413 | 65466775 | 65466483 | 65466484 | Frame_Shift_Del | GA | - | p.E398fs |
| UCEC | TCGA-D1-A0ZR-01 | exon_skip_435102 | 65466413 | 65466775 | 65466497 | 65466500 | Frame_Shift_Del | AAAG | - | p.E402fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435102 | 65466413 | 65466775 | 65466528 | 65466528 | Frame_Shift_Del | A | - | p.K413fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_435102 | 65466413 | 65466775 | 65466534 | 65466534 | Frame_Shift_Del | A | - | p.K415fs |
| UCEC | TCGA-BG-A0M9-01 | exon_skip_435102 | 65466413 | 65466775 | 65466588 | 65466589 | Frame_Shift_Del | AG | - | p.R433fs |
| STAD | TCGA-SW-A7EA-01 | exon_skip_435102 | 65466413 | 65466775 | 65466604 | 65466604 | Frame_Shift_Del | A | - | p.E438fs |
| BLCA | TCGA-E7-A5KF-01 | exon_skip_435102 | 65466413 | 65466775 | 65466696 | 65466696 | Frame_Shift_Del | G | - | p.E469fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_435102 | 65466413 | 65466775 | 65466697 | 65466697 | Frame_Shift_Del | A | - | p.E469fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435102 | 65466413 | 65466775 | 65466697 | 65466697 | Frame_Shift_Del | A | - | p.E469fs |
| UCEC | TCGA-BS-A0TE-01 | exon_skip_435102 | 65466413 | 65466775 | 65466697 | 65466697 | Frame_Shift_Del | A | - | p.E469fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_435102 | 65466413 | 65466775 | 65466714 | 65466714 | Frame_Shift_Del | A | - | p.K476fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_435102 | 65466413 | 65466775 | 65466714 | 65466714 | Frame_Shift_Del | A | - | p.K476fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_435102 | 65466413 | 65466775 | 65466714 | 65466714 | Frame_Shift_Del | A | - | p.K476fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_435105 exon_skip_435106 | 65473342 | 65473486 | 65473396 | 65473397 | Frame_Shift_Ins | - | AG | p.R545fs |
| STAD | TCGA-D7-A6EY-01 | exon_skip_435105 exon_skip_435106 | 65473345 | 65473486 | 65473396 | 65473397 | Frame_Shift_Ins | - | AG | p.R545fs |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_435096 | 65460436 | 65460725 | 65460643 | 65460643 | Nonsense_Mutation | C | T | p.R307* |
| BLCA | TCGA-E5-A4U1-01 | exon_skip_435098 | 65460611 | 65460725 | 65460643 | 65460643 | Nonsense_Mutation | C | T | p.R307* |
| HNSC | TCGA-CN-6020-01 | exon_skip_435102 | 65466413 | 65466775 | 65466624 | 65466624 | Nonsense_Mutation | C | T | p.R445* |
| READ | TCGA-EI-6917-01 | exon_skip_435102 | 65466413 | 65466775 | 65466657 | 65466657 | Nonsense_Mutation | G | T | p.E340X |
| COAD | TCGA-D5-6533-01 | exon_skip_435102 | 65466413 | 65466775 | 65466741 | 65466742 | Nonsense_Mutation | - | A | p.Y484_N485delinsX |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-CN-6020-01 |
| Cancer type: HNSC | |
| ESID: exon_skip_435102 | |
| Skipped exon start: 65466413 | |
| Skipped exon end: 65466775 | |
| Mutation start: 65466624 | |
| Mutation end: 65466624 | |
| Mutation type: Nonsense_Mutation | |
| Reference seq: C | |
| Mutation seq: T | |
| AAchange: p.R445* | |
exon_skip_367496_HNSC_TCGA-CN-6020-01.png | |
exon_skip_435102_HNSC_TCGA-CN-6020-01.png | |
exon_skip_463685_HNSC_TCGA-CN-6020-01.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 |
| GRST_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65466413 | 65466775 | 65466483 | 65466484 | Frame_Shift_Del | GA | - | p.E282fs |
| HOS_BONE | 65460436 | 65460725 | 65460644 | 65460644 | Missense_Mutation | G | A | p.R191Q |
| HOS_BONE | 65460611 | 65460725 | 65460644 | 65460644 | Missense_Mutation | G | A | p.R191Q |
| KYSE270_OESOPHAGUS | 65460436 | 65460725 | 65460658 | 65460658 | Missense_Mutation | A | G | p.T196A |
| KYSE270_OESOPHAGUS | 65460611 | 65460725 | 65460658 | 65460658 | Missense_Mutation | A | G | p.T196A |
| OCILY12_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 65466413 | 65466775 | 65466433 | 65466433 | Missense_Mutation | G | A | p.R265Q |
| HARA_LUNG | 65466413 | 65466775 | 65466439 | 65466439 | Missense_Mutation | A | T | p.K267M |
| LC2AD_LUNG | 65466413 | 65466775 | 65466513 | 65466513 | Missense_Mutation | G | C | p.E292Q |
| GP5D_LARGE_INTESTINE | 65466413 | 65466775 | 65466520 | 65466520 | Missense_Mutation | A | T | p.E294V |
| RERFLCKJ_LUNG | 65466413 | 65466775 | 65466540 | 65466540 | Missense_Mutation | C | T | p.R301W |
| OC316_OVARY | 65466413 | 65466775 | 65466589 | 65466589 | Missense_Mutation | G | C | p.R317T |
| CCK81_LARGE_INTESTINE | 65466413 | 65466775 | 65466589 | 65466589 | Missense_Mutation | G | C | p.R317T |
| OC314_OVARY | 65466413 | 65466775 | 65466589 | 65466589 | Missense_Mutation | G | C | p.R317T |
| HCC2998_LARGE_INTESTINE | 65466413 | 65466775 | 65466591 | 65466591 | Missense_Mutation | G | A | p.E318K |
| HEC251_ENDOMETRIUM | 65466413 | 65466775 | 65466662 | 65466662 | Missense_Mutation | G | T | p.K341N |
| LS180_LARGE_INTESTINE | 65466413 | 65466775 | 65466679 | 65466679 | Missense_Mutation | G | T | p.R347I |
| HT115_LARGE_INTESTINE | 65473342 | 65473486 | 65473346 | 65473346 | Missense_Mutation | A | C | p.N413H |
| HT115_LARGE_INTESTINE | 65473345 | 65473486 | 65473346 | 65473346 | Missense_Mutation | A | C | p.N413H |
| KURAMOCHI_OVARY | 65473342 | 65473486 | 65473455 | 65473455 | Missense_Mutation | A | G | p.E449G |
| KURAMOCHI_OVARY | 65473345 | 65473486 | 65473455 | 65473455 | Missense_Mutation | A | G | p.E449G |
| HT115_LARGE_INTESTINE | 65466413 | 65466775 | 65466513 | 65466513 | Nonsense_Mutation | G | T | p.E292* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SREK1 |
| 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 SREK1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SREK1 |
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RelatedDrugs for SREK1 |
| 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 SREK1 |
| 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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