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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 SEC23IP |
 Gene summary |
| Gene information | Gene symbol | SEC23IP | Gene ID | 11196 |
| Gene name | SEC23 interacting protein | |
| Synonyms | MSTP053|P125|P125A | |
| Cytomap | 10q26.11-q26.12 | |
| Type of gene | protein-coding | |
| Description | SEC23-interacting protein | |
| Modification date | 20180523 | |
| UniProtAcc | Q9Y6Y8 | |
| Context | PubMed: SEC23IP [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 SEC23IP 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 SEC23IP |
| 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 SEC23IP |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45423 | 10 | 121662412:121662521:121663595:121663789:121668552:121668642 | 121663595:121663789 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| exon_skip_45427 | 10 | 121663604:121663789:121668552:121668642:121671555:121671676 | 121668552:121668642 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| exon_skip_45430 | 10 | 121668552:121668642:121671555:121671676:121674241:121674331 | 121671555:121671676 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| exon_skip_45432 | 10 | 121671555:121671676:121674241:121674331:121675259:121675327 | 121674241:121674331 | ENSG00000107651.8 | ENST00000543134.1,ENST00000446561.1,ENST00000369075.3 |
| exon_skip_45433 | 10 | 121677904:121678023:121678955:121679108:121680400:121680496 | 121678955:121679108 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| exon_skip_45437 | 10 | 121685547:121685739:121689118:121689274:121689840:121689943 | 121689118:121689274 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| exon_skip_45440 | 10 | 121689156:121689274:121689840:121689943:121691644:121691830 | 121689840:121689943 | ENSG00000107651.8 | ENST00000543134.1,ENST00000369075.3 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SEC23IP |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_45423 | 10 | 121662412:121662521:121663595:121663789:121668552:121668642 | 121663595:121663789 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| exon_skip_45427 | 10 | 121663604:121663789:121668552:121668642:121671555:121671676 | 121668552:121668642 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| exon_skip_45430 | 10 | 121668552:121668642:121671555:121671676:121674241:121674331 | 121671555:121671676 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| exon_skip_45432 | 10 | 121671555:121671676:121674241:121674331:121675259:121675327 | 121674241:121674331 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1,ENST00000446561.1 |
| exon_skip_45433 | 10 | 121677904:121678023:121678955:121679108:121680400:121680496 | 121678955:121679108 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| exon_skip_45437 | 10 | 121685547:121685739:121689118:121689274:121689840:121689943 | 121689118:121689274 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| exon_skip_45440 | 10 | 121689156:121689274:121689840:121689943:121691644:121691830 | 121689840:121689943 | ENSG00000107651.8 | ENST00000369075.3,ENST00000543134.1 |
| 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 SEC23IP |
| 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 |
| ENST00000369075 | 121663595 | 121663789 | Frame-shift |
| ENST00000369075 | 121671555 | 121671676 | Frame-shift |
| ENST00000369075 | 121689840 | 121689943 | Frame-shift |
| ENST00000369075 | 121668552 | 121668642 | In-frame |
| ENST00000369075 | 121674241 | 121674331 | In-frame |
| ENST00000369075 | 121678955 | 121679108 | In-frame |
| ENST00000369075 | 121689118 | 121689274 | 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 |
| ENST00000369075 | 121663595 | 121663789 | Frame-shift |
| ENST00000369075 | 121671555 | 121671676 | Frame-shift |
| ENST00000369075 | 121689840 | 121689943 | Frame-shift |
| ENST00000369075 | 121668552 | 121668642 | In-frame |
| ENST00000369075 | 121674241 | 121674331 | In-frame |
| ENST00000369075 | 121678955 | 121679108 | In-frame |
| ENST00000369075 | 121689118 | 121689274 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SEC23IP |
| 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 |
| ENST00000369075 | 4673 | 1000 | 121668552 | 121668642 | 1174 | 1263 | 367 | 397 |
| ENST00000369075 | 4673 | 1000 | 121674241 | 121674331 | 1385 | 1474 | 437 | 467 |
| ENST00000369075 | 4673 | 1000 | 121678955 | 121679108 | 1945 | 2097 | 624 | 675 |
| ENST00000369075 | 4673 | 1000 | 121689118 | 121689274 | 2386 | 2541 | 771 | 823 |
| 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 |
| ENST00000369075 | 4673 | 1000 | 121668552 | 121668642 | 1174 | 1263 | 367 | 397 |
| ENST00000369075 | 4673 | 1000 | 121674241 | 121674331 | 1385 | 1474 | 437 | 467 |
| ENST00000369075 | 4673 | 1000 | 121678955 | 121679108 | 1945 | 2097 | 624 | 675 |
| ENST00000369075 | 4673 | 1000 | 121689118 | 121689274 | 2386 | 2541 | 771 | 823 |
| 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 |
| Q9Y6Y8 | 367 | 397 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 367 | 397 | 1 | 367 | Region | Note=Interaction with SEC23A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10400679;Dbxref=PMID:10400679 |
| Q9Y6Y8 | 437 | 467 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 624 | 675 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 624 | 675 | 644 | 707 | Domain | Note=SAM |
| Q9Y6Y8 | 624 | 675 | 644 | 644 | Natural variant | ID=VAR_019806;Note=K->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|Ref.2,ECO:0000269|Ref.3;Dbxref=dbSNP:rs2475298 |
| Q9Y6Y8 | 771 | 823 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 771 | 823 | 779 | 989 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
| 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 |
| Q9Y6Y8 | 367 | 397 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 367 | 397 | 1 | 367 | Region | Note=Interaction with SEC23A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:10400679;Dbxref=PMID:10400679 |
| Q9Y6Y8 | 437 | 467 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 624 | 675 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 624 | 675 | 644 | 707 | Domain | Note=SAM |
| Q9Y6Y8 | 624 | 675 | 644 | 644 | Natural variant | ID=VAR_019806;Note=K->E;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|Ref.2,ECO:0000269|Ref.3;Dbxref=dbSNP:rs2475298 |
| Q9Y6Y8 | 771 | 823 | 1 | 1000 | Chain | ID=PRO_0000097554;Note=SEC23-interacting protein |
| Q9Y6Y8 | 771 | 823 | 779 | 989 | Domain | Note=DDHD;Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00378 |
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SNVs in the skipped exons for SEC23IP |
| - 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-G3-A3CJ-01 | exon_skip_45423 | 121663596 | 121663789 | 121663779 | 121663779 | Frame_Shift_Del | A | - | p.E364fs |
| LUAD | TCGA-55-8507-01 | exon_skip_45427 | 121668553 | 121668642 | 121668587 | 121668587 | Frame_Shift_Del | G | - | p.W379fs |
| UCS | TCGA-N5-A4RN-01 | exon_skip_45427 | 121668553 | 121668642 | 121668600 | 121668601 | Frame_Shift_Del | AG | - | p.383_383del |
| UCS | TCGA-N5-A4RN-01 | exon_skip_45427 | 121668553 | 121668642 | 121668600 | 121668601 | Frame_Shift_Del | AG | - | p.LE383fs |
| LUAD | TCGA-50-5930-01 | exon_skip_45430 | 121671556 | 121671676 | 121671596 | 121671596 | Frame_Shift_Del | G | - | p.W411fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_45437 | 121689119 | 121689274 | 121689145 | 121689145 | Frame_Shift_Del | T | - | p.D780fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_45440 | 121689841 | 121689943 | 121689927 | 121689927 | Frame_Shift_Del | A | - | p.R852fs |
| THYM | TCGA-ZB-A96L-01 | exon_skip_45423 | 121663596 | 121663789 | 121663610 | 121663610 | Nonsense_Mutation | G | T | p.E308X |
| STAD | TCGA-CD-8536-01 | exon_skip_45423 | 121663596 | 121663789 | 121663791 | 121663791 | Splice_Site | T | C | . |
| STAD | TCGA-CD-8536-01 | exon_skip_45423 | 121663596 | 121663789 | 121663791 | 121663791 | Splice_Site | T | C | p.E367_splice |
| - 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 |
| MFE319_ENDOMETRIUM | 121663596 | 121663789 | 121663615 | 121663615 | Missense_Mutation | C | A | p.S309R |
| SNU1040_LARGE_INTESTINE | 121663596 | 121663789 | 121663641 | 121663641 | Missense_Mutation | G | A | p.R318H |
| SNU1077_ENDOMETRIUM | 121663596 | 121663789 | 121663663 | 121663663 | Missense_Mutation | C | A | p.D325E |
| HCC1171_LUNG | 121663596 | 121663789 | 121663764 | 121663764 | Missense_Mutation | C | G | p.T359S |
| NCIH650_LUNG | 121668553 | 121668642 | 121668575 | 121668575 | Missense_Mutation | C | T | p.T375I |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121671556 | 121671676 | 121671581 | 121671581 | Missense_Mutation | C | T | p.S406L |
| SW684_SOFT_TISSUE | 121671556 | 121671676 | 121671670 | 121671670 | Missense_Mutation | C | T | p.P436S |
| KHM1B_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 121674242 | 121674331 | 121674246 | 121674246 | Missense_Mutation | G | C | p.E439D |
| JHUEM7_ENDOMETRIUM | 121674242 | 121674331 | 121674302 | 121674302 | Missense_Mutation | A | C | p.D458A |
| DJM1_SKIN | 121689119 | 121689274 | 121689163 | 121689163 | Missense_Mutation | C | G | p.F786L |
| KYSE270_OESOPHAGUS | 121689119 | 121689274 | 121689248 | 121689248 | Missense_Mutation | A | G | p.K815E |
| MPP89_PLEURA | 121674242 | 121674331 | 121674289 | 121674289 | Nonsense_Mutation | G | T | p.G454* |
| HCC2998_LARGE_INTESTINE | 121689841 | 121689943 | 121689865 | 121689865 | Nonsense_Mutation | G | T | p.E832* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SEC23IP |
| 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_45430 | 10 | 121668552:121668642:121671555:121671676:121674241:121674331 | 121671555:121671676 | ENST00000543134.1,ENST00000369075.3 | STAD | rs17099368 | chr10:121671651 | T/C | 1.50e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC23IP |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SEC23IP |
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RelatedDrugs for SEC23IP |
| 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 SEC23IP |
| 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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