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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 SREK1IP1 |
 Gene summary |
| Gene information | Gene symbol | SREK1IP1 | Gene ID | 285672 |
| Gene name | SREK1 interacting protein 1 | |
| Synonyms | P18SRP|SFRS12IP1 | |
| Cytomap | 5q12.3 | |
| Type of gene | protein-coding | |
| Description | protein SREK1IP1SFRS12-interacting protein 1p18 splicing regulatory proteinprotein SFRS12IP1splicing regulatory protein of 18 kDa | |
| Modification date | 20180519 | |
| UniProtAcc | Q8N9Q2 | |
| Context | PubMed: SREK1IP1 [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 SREK1IP1 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 SREK1IP1 |
| 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 SREK1IP1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442411 | 5 | 64013970:64020400:64023933:64024006:64036883:64037027 | 64023933:64024006 | ENSG00000153006.10 | ENST00000513458.4 |
| exon_skip_442412 | 5 | 64023933:64024006:64036883:64037027:64050141:64050189 | 64036883:64037027 | ENSG00000153006.10 | ENST00000495198.2,ENST00000513458.4 |
| exon_skip_442416 | 5 | 64036962:64037027:64050141:64050189:64060871:64060948 | 64050141:64050189 | ENSG00000153006.10 | ENST00000510616.1 |
| exon_skip_442417 | 5 | 64036962:64037027:64050141:64050189:64064331:64064446 | 64050141:64050189 | ENSG00000153006.10 | ENST00000495198.2 |
| exon_skip_442423 | 5 | 64050141:64050189:64050449:64050597:64060871:64060948 | 64050449:64050597 | ENSG00000153006.10 | ENST00000506252.1 |
| exon_skip_442429 | 5 | 64050141:64050189:64060871:64060948:64064331:64064446 | 64060871:64060948 | ENSG00000153006.10 | ENST00000510616.1 |
| exon_skip_442432 | 5 | 64050449:64050597:64060871:64060948:64064331:64064446 | 64060871:64060948 | ENSG00000153006.10 | ENST00000506252.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SREK1IP1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_442411 | 5 | 64013970:64020400:64023933:64024006:64036883:64037027 | 64023933:64024006 | ENSG00000153006.10 | ENST00000513458.4 |
| exon_skip_442412 | 5 | 64023933:64024006:64036883:64037027:64050141:64050189 | 64036883:64037027 | ENSG00000153006.10 | ENST00000513458.4,ENST00000495198.2 |
| exon_skip_442416 | 5 | 64036962:64037027:64050141:64050189:64060871:64060948 | 64050141:64050189 | ENSG00000153006.10 | ENST00000510616.1 |
| exon_skip_442417 | 5 | 64036962:64037027:64050141:64050189:64064331:64064446 | 64050141:64050189 | ENSG00000153006.10 | ENST00000495198.2 |
| exon_skip_442423 | 5 | 64050141:64050189:64050449:64050597:64060871:64060948 | 64050449:64050597 | ENSG00000153006.10 | ENST00000506252.1 |
| exon_skip_442429 | 5 | 64050141:64050189:64060871:64060948:64064331:64064446 | 64060871:64060948 | ENSG00000153006.10 | ENST00000510616.1 |
| exon_skip_442432 | 5 | 64050449:64050597:64060871:64060948:64064331:64064446 | 64060871:64060948 | ENSG00000153006.10 | ENST00000506252.1 |
| 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 SREK1IP1 |
| 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 |
| ENST00000513458 | 64023933 | 64024006 | Frame-shift |
| ENST00000513458 | 64036883 | 64037027 | 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 |
| ENST00000513458 | 64023933 | 64024006 | Frame-shift |
| ENST00000513458 | 64036883 | 64037027 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SREK1IP1 |
| 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 |
| ENST00000513458 | 6893 | 155 | 64036883 | 64037027 | 230 | 373 | 20 | 68 |
| 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 |
| ENST00000513458 | 6893 | 155 | 64036883 | 64037027 | 230 | 373 | 20 | 68 |
| 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 |
| Q8N9Q2 | 20 | 68 | 1 | 155 | Chain | ID=PRO_0000311922;Note=Protein SREK1IP1 |
| Q8N9Q2 | 20 | 68 | 52 | 52 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q8N9Q2 | 20 | 68 | 13 | 30 | Zinc finger | Note=CCHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00047 |
| 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 |
| Q8N9Q2 | 20 | 68 | 1 | 155 | Chain | ID=PRO_0000311922;Note=Protein SREK1IP1 |
| Q8N9Q2 | 20 | 68 | 52 | 52 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000244;evidence=ECO:0000244|PubMed:20068231;Dbxref=PMID:20068231 |
| Q8N9Q2 | 20 | 68 | 13 | 30 | Zinc finger | Note=CCHC-type;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00047 |
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SNVs in the skipped exons for SREK1IP1 |
| - 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 |
| ACC | TCGA-PK-A5HB-01 | exon_skip_442411 | 64023934 | 64024006 | 64023941 | 64023941 | Frame_Shift_Del | T | - | p.R91fs |
| SKCM | TCGA-EE-A20H-06 | exon_skip_442411 | 64023934 | 64024006 | 64023941 | 64023941 | Frame_Shift_Del | T | - | p.R91fs |
| STAD | TCGA-CG-4442-01 | exon_skip_442411 | 64023934 | 64024006 | 64023941 | 64023941 | Frame_Shift_Del | T | - | p.R91fs |
| THCA | TCGA-ET-A2N0-01 | exon_skip_442411 | 64023934 | 64024006 | 64023941 | 64023941 | Frame_Shift_Del | T | - | p.R91fs |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_442411 | 64023934 | 64024006 | 64023941 | 64023941 | Frame_Shift_Del | T | - | p.R91fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442411 | 64023934 | 64024006 | 64023971 | 64023971 | Frame_Shift_Del | T | - | p.S81fs |
| LUAD | TCGA-55-1594-01 | exon_skip_442411 | 64023934 | 64024006 | 64023980 | 64023981 | Frame_Shift_Del | TC | - | p.KK77fs |
| UCEC | TCGA-D1-A177-01 | exon_skip_442412 | 64036884 | 64037027 | 64036929 | 64036929 | Frame_Shift_Del | C | - | p.E54fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_442416 exon_skip_442417 | 64050142 | 64050189 | 64050152 | 64050152 | Frame_Shift_Del | T | - | p.K17fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_442416 exon_skip_442417 | 64050142 | 64050189 | 64050152 | 64050152 | Frame_Shift_Del | T | - | p.K17fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442416 exon_skip_442417 | 64050142 | 64050189 | 64050152 | 64050152 | Frame_Shift_Del | T | - | p.C18fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_442416 exon_skip_442417 | 64050142 | 64050189 | 64050152 | 64050152 | Frame_Shift_Del | T | - | p.K17fs |
| PRAD | TCGA-EJ-A65F-01 | exon_skip_442411 | 64023934 | 64024006 | 64023940 | 64023941 | Frame_Shift_Ins | - | T | p.E91fs |
| SKCM | TCGA-GN-A8LN-01 | exon_skip_442411 | 64023934 | 64024006 | 64023940 | 64023941 | Frame_Shift_Ins | - | T | p.E91fs |
| UCEC | TCGA-AP-A0LQ-01 | exon_skip_442411 | 64023934 | 64024006 | 64023940 | 64023941 | Frame_Shift_Ins | - | T | p.R91fs |
| LIHC | TCGA-CC-A7IK-01 | exon_skip_442411 | 64023934 | 64024006 | 64023956 | 64023956 | Nonsense_Mutation | T | A | p.K86* |
| LIHC | TCGA-CC-A7IK-01 | exon_skip_442411 | 64023934 | 64024006 | 64023956 | 64023956 | Nonsense_Mutation | T | A | p.K86X |
| UCEC | TCGA-A5-A0GB-01 | exon_skip_442412 | 64036884 | 64037027 | 64036992 | 64036992 | Nonsense_Mutation | G | A | p.R33* |
| - 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 |
| RCCFG2_KIDNEY | 64050142 | 64050189 | 64050152 | 64050152 | Frame_Shift_Del | T | - | p.K17fs |
| JHUEM1_ENDOMETRIUM | 64023934 | 64024006 | 64023970 | 64023971 | Frame_Shift_Ins | - | T | p.S81fs |
| SKNDZ_AUTONOMIC_GANGLIA | 64023934 | 64024006 | 64023970 | 64023971 | Frame_Shift_Ins | - | T | p.S81fs |
| OCIMY5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 64023934 | 64024006 | 64023951 | 64023951 | Missense_Mutation | C | A | p.L87F |
| NCIH1915_LUNG | 64036884 | 64037027 | 64036985 | 64036985 | Missense_Mutation | T | A | p.D35V |
| MMACSF_SKIN | 64050142 | 64050189 | 64050184 | 64050184 | Missense_Mutation | T | G | p.N7H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SREK1IP1 |
| 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 SREK1IP1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SREK1IP1 |
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RelatedDrugs for SREK1IP1 |
| 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 SREK1IP1 |
| 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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