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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 PGLYRP2 |
 Gene summary |
| Gene information | Gene symbol | PGLYRP2 | Gene ID | 114770 |
| Gene name | peptidoglycan recognition protein 2 | |
| Synonyms | HMFT0141|PGLYRPL|PGRP-L|PGRPL|TAGL-like|tagL|tagL-alpha|tagl-beta | |
| Cytomap | 19p13.12 | |
| Type of gene | protein-coding | |
| Description | N-acetylmuramoyl-L-alanine amidasepeptidoglycan recognition protein Lpeptidoglycan recognition protein long | |
| Modification date | 20180525 | |
| UniProtAcc | Q96PD5 | |
| Context | PubMed: PGLYRP2 [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 |
| PGLYRP2 | GO:0016045 | detection of bacterium | 11461926 |
| PGLYRP2 | GO:0050830 | defense response to Gram-positive bacterium | 11461926 |
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Exon skipping events across known transcript of Ensembl for PGLYRP2 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 PGLYRP2 |
| 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 PGLYRP2 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316122 | 19 | 15582700:15582911:15586348:15587419:15590121:15590246 | 15586348:15587419 | ENSG00000161031.8 | ENST00000340880.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PGLYRP2 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_316122 | 19 | 15582700:15582911:15586348:15587419:15590121:15590246 | 15586348:15587419 | ENSG00000161031.8 | ENST00000340880.4 |
| 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 PGLYRP2 |
| 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 |
| ENST00000340880 | 15586348 | 15587419 | 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 |
| ENST00000340880 | 15586348 | 15587419 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PGLYRP2 |
| 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 |
| ENST00000340880 | 2247 | 576 | 15586348 | 15587419 | 543 | 1613 | 20 | 377 |
| 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 |
| ENST00000340880 | 2247 | 576 | 15586348 | 15587419 | 543 | 1613 | 20 | 377 |
| 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 |
| Q96PD5 | 20 | 377 | 22 | 576 | Chain | ID=PRO_0000023920;Note=N-acetylmuramoyl-L-alanine amidase |
| Q96PD5 | 20 | 377 | 77 | 77 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| Q96PD5 | 20 | 377 | 367 | 367 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 |
| Q96PD5 | 20 | 377 | 239 | 239 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 274 | 274 | Modified residue | Note=Deamidated asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 322 | 322 | Modified residue | Note=Deamidated asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 46 | 46 | Natural variant | ID=VAR_050498;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs3813135,PMID:12975309 |
| Q96PD5 | 20 | 377 | 99 | 99 | Natural variant | ID=VAR_050499;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs733731,PMID:12975309 |
| Q96PD5 | 20 | 377 | 257 | 257 | Natural variant | ID=VAR_050500;Note=T->N;Dbxref=dbSNP:rs28404490 |
| Q96PD5 | 20 | 377 | 270 | 270 | Natural variant | ID=VAR_050501;Note=M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs892145,PMID:12975309 |
| Q96PD5 | 20 | 377 | 124 | 124 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96PD5 | 20 | 377 | 1 | 21 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15340161,ECO:0000269|PubMed:7663175;Dbxref=PMID:15340161,PMID:7663175 |
| 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 |
| Q96PD5 | 20 | 377 | 22 | 576 | Chain | ID=PRO_0000023920;Note=N-acetylmuramoyl-L-alanine amidase |
| Q96PD5 | 20 | 377 | 77 | 77 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16335952;Dbxref=PMID:16335952 |
| Q96PD5 | 20 | 377 | 367 | 367 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:16335952,ECO:0000269|PubMed:19159218;Dbxref=PMID:16335952,PMID:19159218 |
| Q96PD5 | 20 | 377 | 239 | 239 | Modified residue | Note=Phosphoserine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 274 | 274 | Modified residue | Note=Deamidated asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 322 | 322 | Modified residue | Note=Deamidated asparagine;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:16054449;Dbxref=PMID:16054449 |
| Q96PD5 | 20 | 377 | 46 | 46 | Natural variant | ID=VAR_050498;Note=T->A;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs3813135,PMID:12975309 |
| Q96PD5 | 20 | 377 | 99 | 99 | Natural variant | ID=VAR_050499;Note=R->Q;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs733731,PMID:12975309 |
| Q96PD5 | 20 | 377 | 257 | 257 | Natural variant | ID=VAR_050500;Note=T->N;Dbxref=dbSNP:rs28404490 |
| Q96PD5 | 20 | 377 | 270 | 270 | Natural variant | ID=VAR_050501;Note=M->K;Ontology_term=ECO:0000269;evidence=ECO:0000269|PubMed:12975309;Dbxref=dbSNP:rs892145,PMID:12975309 |
| Q96PD5 | 20 | 377 | 124 | 124 | Sequence conflict | Note=L->P;Ontology_term=ECO:0000305;evidence=ECO:0000305 |
| Q96PD5 | 20 | 377 | 1 | 21 | Signal peptide | Ontology_term=ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:15340161,ECO:0000269|PubMed:7663175;Dbxref=PMID:15340161,PMID:7663175 |
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SNVs in the skipped exons for PGLYRP2 |
| - 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. |
PGLYRP2_LIHC_exon_skip_316122_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 |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_316122 | 15586349 | 15587419 | 15586358 | 15586358 | Frame_Shift_Del | C | - | p.A375fs |
| LIHC | TCGA-DD-AACB-01 | exon_skip_316122 | 15586349 | 15587419 | 15586526 | 15586526 | Frame_Shift_Del | G | - | p.R319fs |
| BRCA | TCGA-C8-A12L-01 | exon_skip_316122 | 15586349 | 15587419 | 15586540 | 15586540 | Frame_Shift_Del | A | - | p.F314fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_316122 | 15586349 | 15587419 | 15587185 | 15587185 | Frame_Shift_Del | C | - | p.R99fs |
| UCEC | TCGA-D1-A103-01 | exon_skip_316122 | 15586349 | 15587419 | 15586706 | 15586707 | Frame_Shift_Ins | - | A | p.T258fs |
| LUAD | TCGA-91-A4BC-01 | exon_skip_316122 | 15586349 | 15587419 | 15586769 | 15586769 | Nonsense_Mutation | G | A | p.Q238* |
| CESC | TCGA-MY-A5BD-01 | exon_skip_316122 | 15586349 | 15587419 | 15587259 | 15587259 | Nonsense_Mutation | C | T | p.W74* |
| LUAD | TCGA-55-A490-01 | exon_skip_316122 | 15586349 | 15587419 | 15587314 | 15587314 | Nonsense_Mutation | G | T | p.S56* |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-G3-A3CJ-01 |
| Cancer type: LIHC | |
| ESID: exon_skip_316122 | |
| Skipped exon start: 15586349 | |
| Skipped exon end: 15587419 | |
| Mutation start: 15587185 | |
| Mutation end: 15587185 | |
| Mutation type: Frame_Shift_Del | |
| Reference seq: C | |
| Mutation seq: - | |
| AAchange: p.R99fs | |
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| - 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 |
| MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15586349 | 15587419 | 15587244 | 15587245 | Frame_Shift_Del | TG | - | p.T79fs |
| SNU1040_LARGE_INTESTINE | 15586349 | 15587419 | 15586397 | 15586397 | Missense_Mutation | C | T | p.A362T |
| UACC812_BREAST | 15586349 | 15587419 | 15586489 | 15586489 | Missense_Mutation | A | G | p.I331T |
| SKHEP1_LIVER | 15586349 | 15587419 | 15586504 | 15586504 | Missense_Mutation | A | T | p.L326Q |
| SW1783_CENTRAL_NERVOUS_SYSTEM | 15586349 | 15587419 | 15586523 | 15586523 | Missense_Mutation | G | A | p.R320W |
| NCIH2444_LUNG | 15586349 | 15587419 | 15586537 | 15586537 | Missense_Mutation | C | T | p.R315H |
| SNU1040_LARGE_INTESTINE | 15586349 | 15587419 | 15586555 | 15586555 | Missense_Mutation | G | A | p.A309V |
| TM31_CENTRAL_NERVOUS_SYSTEM | 15586349 | 15587419 | 15586601 | 15586601 | Missense_Mutation | G | A | p.P294S |
| K2_SKIN | 15586349 | 15587419 | 15586606 | 15586606 | Missense_Mutation | G | A | p.P292L |
| KYSE30_OESOPHAGUS | 15586349 | 15587419 | 15586610 | 15586610 | Missense_Mutation | C | T | p.E291K |
| MEWO_SKIN | 15586349 | 15587419 | 15586646 | 15586646 | Missense_Mutation | C | T | p.G279R |
| LS411N_LARGE_INTESTINE | 15586349 | 15587419 | 15586689 | 15586689 | Missense_Mutation | C | A | p.K264N |
| DV90_LUNG | 15586349 | 15587419 | 15586693 | 15586693 | Missense_Mutation | G | T | p.P263H |
| LAN6_AUTONOMIC_GANGLIA | 15586349 | 15587419 | 15586718 | 15586718 | Missense_Mutation | G | T | p.P255T |
| KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 15586349 | 15587419 | 15586816 | 15586816 | Missense_Mutation | G | A | p.T222I |
| BT474_BREAST | 15586349 | 15587419 | 15586924 | 15586924 | Missense_Mutation | C | A | p.G186V |
| KYSE50_OESOPHAGUS | 15586349 | 15587419 | 15587015 | 15587015 | Missense_Mutation | G | A | p.P156S |
| LN464_CENTRAL_NERVOUS_SYSTEM | 15586349 | 15587419 | 15587033 | 15587033 | Missense_Mutation | C | T | p.E150K |
| ACN_AUTONOMIC_GANGLIA | 15586349 | 15587419 | 15587033 | 15587033 | Missense_Mutation | C | T | p.E150K |
| KPNYN_AUTONOMIC_GANGLIA | 15586349 | 15587419 | 15587090 | 15587090 | Missense_Mutation | C | T | p.G131R |
| NCIH513_PLEURA | 15586349 | 15587419 | 15587171 | 15587171 | Missense_Mutation | C | G | p.E104Q |
| NCIH1623_LUNG | 15586349 | 15587419 | 15587183 | 15587183 | Missense_Mutation | G | T | p.H100N |
| MM386_SKIN | 15586349 | 15587419 | 15587243 | 15587243 | Missense_Mutation | C | T | p.E80K |
| SNU1040_LARGE_INTESTINE | 15586349 | 15587419 | 15587272 | 15587272 | Missense_Mutation | A | T | p.L70Q |
| OC316_OVARY | 15586349 | 15587419 | 15587326 | 15587326 | Missense_Mutation | G | A | p.A52V |
| OC314_OVARY | 15586349 | 15587419 | 15587326 | 15587326 | Missense_Mutation | G | A | p.A52V |
| NCIH446_LUNG | 15586349 | 15587419 | 15587378 | 15587378 | Missense_Mutation | C | A | p.A35S |
| COV362_OVARY | 15586349 | 15587419 | 15587384 | 15587384 | Missense_Mutation | C | A | p.A33S |
| WM1799_SKIN | 15586349 | 15587419 | 15587399 | 15587399 | Missense_Mutation | C | T | p.D28N |
| NCIH1184_LUNG | 15586349 | 15587419 | 15587034 | 15587034 | Nonsense_Mutation | C | T | p.W149* |
| LNCAPCLONEFGC_PROSTATE | 15586349 | 15587419 | 15587174 | 15587174 | Nonsense_Mutation | G | A | p.R103* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PGLYRP2 |
| 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 PGLYRP2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PGLYRP2 |
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RelatedDrugs for PGLYRP2 |
| 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 |
| Q96PD5 | DB01593 | Zinc | N-acetylmuramoyl-L-alanine amidase | small molecule | approved|investigational | |
| Q96PD5 | DB14487 | Zinc acetate | N-acetylmuramoyl-L-alanine amidase | small molecule | approved|investigational | |
| Q96PD5 | DB14533 | Zinc chloride | N-acetylmuramoyl-L-alanine amidase | small molecule | approved|investigational |
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RelatedDiseases for PGLYRP2 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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