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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 PSG5 |
 Gene summary |
| Gene information | Gene symbol | PSG5 | Gene ID | 5673 |
| Gene name | pregnancy specific beta-1-glycoprotein 5 | |
| Synonyms | FL-NCA-3|PSG | |
| Cytomap | 19q13.31 | |
| Type of gene | protein-coding | |
| Description | pregnancy-specific beta-1-glycoprotein 5PS-beta-G-5PSBG-5Pregnancy-specific beta-1-glycoprotein-5fetal liver non-specific cross-reactive antigen 3pregnancy-specific beta 1 glycoproteinpregnancy-specific glycoprotein 5 | |
| Modification date | 20180519 | |
| UniProtAcc | Q15238 | |
| Context | PubMed: PSG5 [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 PSG5 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 PSG5 |
| 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 PSG5 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319164 | 19 | 43672273:43672355:43674206:43674290:43679366:43679621 | 43674206:43674290 | ENSG00000204941.9 | ENST00000599812.1,ENST00000342951.6 |
| exon_skip_319165 | 19 | 43674206:43674290:43679366:43679621:43680021:43680300 | 43679366:43679621 | ENSG00000204941.9 | ENST00000599812.1,ENST00000407356.1,ENST00000366175.3,ENST00000342951.6 |
| exon_skip_319167 | 19 | 43680021:43680300:43683030:43683309:43688933:43689087 | 43683030:43683309 | ENSG00000204941.9 | ENST00000599812.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PSG5 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_319164 | 19 | 43672273:43672355:43674206:43674290:43679366:43679621 | 43674206:43674290 | ENSG00000204941.9 | ENST00000599812.1,ENST00000342951.6 |
| exon_skip_319165 | 19 | 43674206:43674290:43679366:43679621:43680021:43680300 | 43679366:43679621 | ENSG00000204941.9 | ENST00000366175.3,ENST00000407356.1,ENST00000599812.1,ENST00000342951.6 |
| exon_skip_319167 | 19 | 43680021:43680300:43683030:43683309:43688933:43689087 | 43683030:43683309 | ENSG00000204941.9 | ENST00000599812.1 |
| 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 PSG5 |
| 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 |
| ENST00000342951 | 43674206 | 43674290 | 5CDS-5UTR |
| ENST00000342951 | 43679366 | 43679621 | In-frame |
| ENST00000366175 | 43679366 | 43679621 | In-frame |
| ENST00000407356 | 43679366 | 43679621 | 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 |
| ENST00000342951 | 43674206 | 43674290 | 5CDS-5UTR |
| ENST00000342951 | 43679366 | 43679621 | In-frame |
| ENST00000366175 | 43679366 | 43679621 | In-frame |
| ENST00000407356 | 43679366 | 43679621 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PSG5 |
| 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 |
| ENST00000342951 | 1643 | 335 | 43679366 | 43679621 | 827 | 1081 | 236 | 321 |
| ENST00000366175 | 1783 | 335 | 43679366 | 43679621 | 841 | 1095 | 236 | 321 |
| ENST00000407356 | 1543 | 335 | 43679366 | 43679621 | 795 | 1049 | 236 | 321 |
| 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 |
| ENST00000342951 | 1643 | 335 | 43679366 | 43679621 | 827 | 1081 | 236 | 321 |
| ENST00000366175 | 1783 | 335 | 43679366 | 43679621 | 841 | 1095 | 236 | 321 |
| ENST00000407356 | 1543 | 335 | 43679366 | 43679621 | 795 | 1049 | 236 | 321 |
| 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 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| 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 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 35 | 335 | Chain | ID=PRO_0000014912;Note=Pregnancy-specific beta-1-glycoprotein 5 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 261 | 301 | Disulfide bond | Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 239 | 317 | Domain | Note=Ig-like C2-type 2 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 240 | 240 | Sequence conflict | Note=D->Y;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q15238 | 236 | 321 | 288 | 288 | Sequence conflict | Note=I->M;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
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SNVs in the skipped exons for PSG5 |
| - 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_319165 | 43679367 | 43679621 | 43679514 | 43679514 | Frame_Shift_Del | A | - | p.W273fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_319165 | 43679367 | 43679621 | 43679555 | 43679555 | Frame_Shift_Del | A | - | p.L259fs |
| LUAD | TCGA-86-8281-01 | exon_skip_319165 | 43679367 | 43679621 | 43679578 | 43679578 | Nonsense_Mutation | G | C | p.Y251* |
| CHOL | TCGA-W5-AA38-01 | exon_skip_319164 | 43674207 | 43674290 | 43674291 | 43674291 | Splice_Site | C | T | . |
| KIRP | TCGA-KV-A6GD-01 | exon_skip_319165 | 43679367 | 43679621 | 43679366 | 43679366 | Splice_Site | C | T | . |
| KIRP | TCGA-KV-A6GD-01 | exon_skip_319165 | 43679367 | 43679621 | 43679366 | 43679366 | Splice_Site | C | T | p.A322_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 |
| HEC108_ENDOMETRIUM | 43674207 | 43674290 | 43674250 | 43674251 | Missense_Mutation | TA | CG | p.I335T |
| HEC108_ENDOMETRIUM | 43674207 | 43674290 | 43674250 | 43674250 | Missense_Mutation | T | C | p.I335M |
| HEC108_ENDOMETRIUM | 43674207 | 43674290 | 43674251 | 43674251 | Missense_Mutation | A | G | p.I335T |
| JHUEM7_ENDOMETRIUM | 43674207 | 43674290 | 43674272 | 43674272 | Missense_Mutation | C | T | p.R328H |
| DMS79_LUNG | 43674207 | 43674290 | 43674288 | 43674288 | Missense_Mutation | G | A | p.P323S |
| NY_BONE | 43679367 | 43679621 | 43679378 | 43679378 | Missense_Mutation | A | G | p.V318A |
| HCET_UPPER_AERODIGESTIVE_TRACT | 43679367 | 43679621 | 43679420 | 43679420 | Missense_Mutation | C | T | p.R304H |
| UACC62_SKIN | 43679367 | 43679621 | 43679521 | 43679521 | Missense_Mutation | C | G | p.E270D |
| SNU1040_LARGE_INTESTINE | 43679367 | 43679621 | 43679544 | 43679544 | Missense_Mutation | C | T | p.A263T |
| SUDHL16_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43679367 | 43679621 | 43679601 | 43679601 | Missense_Mutation | T | G | p.I244L |
| BC3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 43679367 | 43679621 | 43679613 | 43679613 | Missense_Mutation | C | G | p.D240H |
| NCIH520_LUNG | 43679367 | 43679621 | 43679512 | 43679512 | Nonsense_Mutation | C | T | p.W273* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PSG5 |
| 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 PSG5 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PSG5 |
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RelatedDrugs for PSG5 |
| 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 |
| Q15238 | DB00523 | Alitretinoin | Pregnancy-specific beta-1-glycoprotein 5 | small molecule | approved|investigational |
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RelatedDiseases for PSG5 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PSG5 | C0003873 | Rheumatoid Arthritis | 1 | CTD_human |
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