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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 SERPINB13 |
 Gene summary |
| Gene information | Gene symbol | SERPINB13 | Gene ID | 5275 |
| Gene name | serpin family B member 13 | |
| Synonyms | HSHUR7SEQ|HUR7|PI13|headpin | |
| Cytomap | 18q21.33 | |
| Type of gene | protein-coding | |
| Description | serpin B13HURPINPI-13UV-B repressed sequence, HUR 7haCaT UV-repressible serpinpeptidase inhibitor 13protease inhibitor 13 (hurpin, headpin)proteinase inhibitor 13serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 13serpin pept | |
| Modification date | 20180523 | |
| UniProtAcc | Q9UIV8 | |
| Context | PubMed: SERPINB13 [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 |
| SERPINB13 | GO:0010951 | negative regulation of endopeptidase activity | 12504904 |
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Exon skipping events across known transcript of Ensembl for SERPINB13 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 SERPINB13 |
| 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 SERPINB13 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297265 | 18 | 61254662:61254684:61255884:61256066:61256889:61256946 | 61255884:61256066 | ENSG00000197641.7 | ENST00000269489.5,ENST00000431153.1,ENST00000479842.1,ENST00000344731.5,ENST00000438844.1 |
| exon_skip_297280 | 18 | 61256889:61256946:61259581:61259710:61260087:61260118 | 61259581:61259710 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297290 | 18 | 61256889:61256949:61259581:61259710:61260087:61260118 | 61259581:61259710 | ENSG00000197641.7 | ENST00000269489.5,ENST00000431153.1,ENST00000344731.5 |
| exon_skip_297322 | 18 | 61259581:61259710:61260087:61260205:61261259:61261472 | 61260087:61260205 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297323 | 18 | 61259581:61259710:61260087:61260205:61261588:61261731 | 61260087:61260205 | ENSG00000197641.7 | ENST00000269489.5,ENST00000344731.5 |
| exon_skip_297326 | 18 | 61260087:61260205:61261259:61261472:61261588:61261731 | 61261259:61261472 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297327 | 18 | 61261588:61261731:61262262:61262418:61264192:61264807 | 61262262:61262418 | ENSG00000197641.7 | ENST00000344731.5,ENST00000438844.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for SERPINB13 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_297265 | 18 | 61254662:61254684:61255884:61256066:61256889:61256946 | 61255884:61256066 | ENSG00000197641.7 | ENST00000431153.1,ENST00000269489.5,ENST00000344731.5,ENST00000479842.1,ENST00000438844.1 |
| exon_skip_297280 | 18 | 61256889:61256946:61259581:61259710:61260087:61260118 | 61259581:61259710 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297290 | 18 | 61256889:61256949:61259581:61259710:61260087:61260118 | 61259581:61259710 | ENSG00000197641.7 | ENST00000431153.1,ENST00000269489.5,ENST00000344731.5 |
| exon_skip_297322 | 18 | 61259581:61259710:61260087:61260205:61261259:61261472 | 61260087:61260205 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297323 | 18 | 61259581:61259710:61260087:61260205:61261588:61261731 | 61260087:61260205 | ENSG00000197641.7 | ENST00000269489.5,ENST00000344731.5 |
| exon_skip_297326 | 18 | 61260087:61260205:61261259:61261472:61261588:61261731 | 61261259:61261472 | ENSG00000197641.7 | ENST00000438844.1 |
| exon_skip_297327 | 18 | 61261588:61261731:61262262:61262418:61264192:61264807 | 61262262:61262418 | ENSG00000197641.7 | ENST00000344731.5,ENST00000438844.1 |
| 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 SERPINB13 |
| 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 |
| ENST00000344731 | 61255884 | 61256066 | 5CDS-5UTR |
| ENST00000344731 | 61260087 | 61260205 | Frame-shift |
| ENST00000344731 | 61259581 | 61259710 | In-frame |
| ENST00000344731 | 61262262 | 61262418 | 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 |
| ENST00000344731 | 61255884 | 61256066 | 5CDS-5UTR |
| ENST00000344731 | 61260087 | 61260205 | Frame-shift |
| ENST00000344731 | 61259581 | 61259710 | In-frame |
| ENST00000344731 | 61262262 | 61262418 | In-frame |
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Infer the effects of exon skipping event on protein functional features for SERPINB13 |
| 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 |
| ENST00000344731 | 3131 | 391 | 61259581 | 61259710 | 328 | 456 | 75 | 118 |
| ENST00000344731 | 3131 | 391 | 61262262 | 61262418 | 718 | 873 | 205 | 257 |
| 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 |
| ENST00000344731 | 3131 | 391 | 61259581 | 61259710 | 328 | 456 | 75 | 118 |
| ENST00000344731 | 3131 | 391 | 61262262 | 61262418 | 718 | 873 | 205 | 257 |
| 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 |
| Q9UIV8 | 75 | 118 | 1 | 391 | Chain | ID=PRO_0000094121;Note=Serpin B13 |
| Q9UIV8 | 75 | 118 | 75 | 75 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UIV8 | 205 | 257 | 206 | 257 | Alternative sequence | ID=VSP_006058;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UIV8 | 205 | 257 | 1 | 391 | Chain | ID=PRO_0000094121;Note=Serpin B13 |
| 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 |
| Q9UIV8 | 75 | 118 | 1 | 391 | Chain | ID=PRO_0000094121;Note=Serpin B13 |
| Q9UIV8 | 75 | 118 | 75 | 75 | Sequence conflict | Note=Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UIV8 | 205 | 257 | 206 | 257 | Alternative sequence | ID=VSP_006058;Note=In isoform 2. Missing;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q9UIV8 | 205 | 257 | 1 | 391 | Chain | ID=PRO_0000094121;Note=Serpin B13 |
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SNVs in the skipped exons for SERPINB13 |
| - 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 |
| KIRC | TCGA-A3-3323-01 | exon_skip_297265 | 61255885 | 61256066 | 61255961 | 61255961 | Frame_Shift_Del | G | - | p.K20fs |
| KIRC | TCGA-A3-3323-01 | exon_skip_297265 | 61255885 | 61256066 | 61255961 | 61255961 | Frame_Shift_Del | G | - | p.K21fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_297265 | 61255885 | 61256066 | 61256030 | 61256030 | Frame_Shift_Del | G | - | p.L43fs |
| LUAD | TCGA-17-Z028-01 | exon_skip_297265 | 61255885 | 61256066 | 61256061 | 61256061 | Nonsense_Mutation | G | T | p.E54* |
| LUSC | TCGA-66-2756-01 | exon_skip_297265 | 61255885 | 61256066 | 61256064 | 61256064 | Nonsense_Mutation | G | T | p.E55* |
| LUAD | TCGA-44-6774-01 | exon_skip_297280 exon_skip_297290 | 61259582 | 61259710 | 61259708 | 61259708 | Nonsense_Mutation | C | T | p.Q118* |
| STAD | TCGA-BR-4257-01 | exon_skip_297322 exon_skip_297323 | 61260088 | 61260205 | 61260166 | 61260166 | Nonsense_Mutation | C | T | p.R145* |
| STAD | TCGA-BR-4257-01 | exon_skip_297322 exon_skip_297323 | 61260088 | 61260205 | 61260166 | 61260166 | Nonsense_Mutation | C | T | p.R145X |
| CHOL | TCGA-W5-AA38-01 | exon_skip_297322 exon_skip_297323 | 61260088 | 61260205 | 61260205 | 61260205 | Nonsense_Mutation | G | T | p.E158X |
| LUSC | TCGA-22-1012-01 | exon_skip_297322 exon_skip_297323 | 61260088 | 61260205 | 61260205 | 61260205 | Nonsense_Mutation | G | T | p.E167_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 |
| MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 61255885 | 61256066 | 61255999 | 61255999 | Missense_Mutation | G | A | p.G33D |
| WM88_SKIN | 61259582 | 61259710 | 61259657 | 61259657 | Missense_Mutation | G | A | p.E101K |
| LN464_CENTRAL_NERVOUS_SYSTEM | 61259582 | 61259710 | 61259694 | 61259694 | Missense_Mutation | C | T | p.T113I |
| ACN_AUTONOMIC_GANGLIA | 61259582 | 61259710 | 61259694 | 61259694 | Missense_Mutation | C | T | p.T113I |
| 451LU_SKIN | 61260088 | 61260205 | 61260130 | 61260130 | Missense_Mutation | G | A | p.E133K |
| MDST8_LARGE_INTESTINE | 61260088 | 61260205 | 61260163 | 61260163 | Missense_Mutation | A | T | p.S144C |
| HEC1_ENDOMETRIUM | 61262263 | 61262418 | 61262363 | 61262363 | Missense_Mutation | A | T | p.N239I |
| SAOS2_BONE | 61262263 | 61262418 | 61262368 | 61262368 | Missense_Mutation | G | C | p.D241H |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for SERPINB13 |
| 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 SERPINB13 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for SERPINB13 |
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RelatedDrugs for SERPINB13 |
| 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 SERPINB13 |
| 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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