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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 PDCD1LG2 |
Gene summary |
| Gene information | Gene symbol | PDCD1LG2 | Gene ID | 80380 |
| Gene name | programmed cell death 1 ligand 2 | |
| Synonyms | B7DC|Btdc|CD273|PD-L2|PDCD1L2|PDL2|bA574F11.2 | |
| Cytomap | 9p24.1 | |
| Type of gene | protein-coding | |
| Description | programmed cell death 1 ligand 2B7 dendritic cell moleculeB7-DCPD-1-ligand 2PDCD1 ligand 2butyrophilin B7-DCprogrammed death ligand 2 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9BQ51 | |
| Context | PubMed: PDCD1LG2 [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 PDCD1LG2 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 PDCD1LG2 |
Expression levels of gene isoforms across TCGA. |
Expression levels of gene isoforms across GTEx. |
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Exon skipping events with PSIs in TCGA for PDCD1LG2 |
Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494877 | 9 | 5510569:5510803:5522532:5522601:5534744:5535050 | 5522532:5522601 | ENSG00000197646.6 | ENST00000397747.3 |
| exon_skip_494878 | 9 | 5534744:5535050:5549334:5549604:5557617:5557752 | 5549334:5549604 | ENSG00000197646.6 | ENST00000397747.3 |
| exon_skip_494880 | 9 | 5549334:5549604:5557617:5557752:5563161:5563211 | 5557617:5557752 | ENSG00000197646.6 | ENST00000397747.3 |
PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PDCD1LG2 |
Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494877 | 9 | 5510569:5510803:5522532:5522601:5534744:5535050 | 5522532:5522601 | ENSG00000197646.6 | ENST00000397747.3 |
| exon_skip_494878 | 9 | 5534744:5535050:5549334:5549604:5557617:5557752 | 5549334:5549604 | ENSG00000197646.6 | ENST00000397747.3 |
| exon_skip_494880 | 9 | 5549334:5549604:5557617:5557752:5563161:5563211 | 5557617:5557752 | ENSG00000197646.6 | ENST00000397747.3 |
PSI values of skipped exons in GTEx. |
| * Skipped exon sequences. |
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Open reading frame (ORF) annotation in the exon skipping event for PDCD1LG2 |
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 |
| ENST00000397747 | 5522532 | 5522601 | 5CDS-5UTR |
| ENST00000397747 | 5549334 | 5549604 | In-frame |
| ENST00000397747 | 5557617 | 5557752 | 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 |
| ENST00000397747 | 5522532 | 5522601 | 5CDS-5UTR |
| ENST00000397747 | 5549334 | 5549604 | In-frame |
| ENST00000397747 | 5557617 | 5557752 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PDCD1LG2 |
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 |
| ENST00000397747 | 2380 | 273 | 5549334 | 5549604 | 610 | 879 | 120 | 210 |
| ENST00000397747 | 2380 | 273 | 5557617 | 5557752 | 880 | 1014 | 210 | 255 |
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 |
| ENST00000397747 | 2380 | 273 | 5549334 | 5549604 | 610 | 879 | 120 | 210 |
| ENST00000397747 | 2380 | 273 | 5557617 | 5557752 | 880 | 1014 | 210 | 255 |
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 |
| Q9BQ51 | 120 | 210 | 121 | 211 | Alternative sequence | ID=VSP_013740;Note=In isoform 2. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRLKPPPGRNFSCVFWNTHVRELTLASIDLQS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 121 | 182 | Alternative sequence | ID=VSP_013738;Note=In isoform 3. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRL->DGTQDPSNLAASHFHPLLHHCFHFHSHSDSPKKTTLSKAVFFKRHNKKTCHHNKEGSEQCYL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 183 | 273 | Alternative sequence | ID=VSP_013739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 20 | 273 | Chain | ID=PRO_0000014555;Note=Programmed cell death 1 ligand 2 |
| Q9BQ51 | 120 | 210 | 143 | 192 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9BQ51 | 120 | 210 | 122 | 203 | Domain | Note=Ig-like C2-type |
| Q9BQ51 | 120 | 210 | 157 | 157 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 163 | 163 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 189 | 189 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 20 | 220 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 121 | 211 | Alternative sequence | ID=VSP_013740;Note=In isoform 2. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRLKPPPGRNFSCVFWNTHVRELTLASIDLQS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 210 | 255 | 183 | 273 | Alternative sequence | ID=VSP_013739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 210 | 255 | 20 | 273 | Chain | ID=PRO_0000014555;Note=Programmed cell death 1 ligand 2 |
| Q9BQ51 | 210 | 255 | 229 | 229 | Natural variant | ID=VAR_022449;Note=F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11224527,ECO:0000269|PubMed:11283156,ECO:0000269|PubMed:15253154,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7854303,PMID:11224527,PMID:112831 |
| Q9BQ51 | 210 | 255 | 241 | 241 | Natural variant | ID=VAR_049843;Note=I->T;Dbxref=dbSNP:rs7854413 |
| Q9BQ51 | 210 | 255 | 20 | 220 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 242 | 273 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 221 | 241 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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 |
| Q9BQ51 | 120 | 210 | 121 | 211 | Alternative sequence | ID=VSP_013740;Note=In isoform 2. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRLKPPPGRNFSCVFWNTHVRELTLASIDLQS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 121 | 182 | Alternative sequence | ID=VSP_013738;Note=In isoform 3. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRL->DGTQDPSNLAASHFHPLLHHCFHFHSHSDSPKKTTLSKAVFFKRHNKKTCHHNKEGSEQCYL;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 183 | 273 | Alternative sequence | ID=VSP_013739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 120 | 210 | 20 | 273 | Chain | ID=PRO_0000014555;Note=Programmed cell death 1 ligand 2 |
| Q9BQ51 | 120 | 210 | 143 | 192 | Disulfide bond | Ontology_term=ECO:0000255;evidence=ECO:0000255|PROSITE-ProRule:PRU00114 |
| Q9BQ51 | 120 | 210 | 122 | 203 | Domain | Note=Ig-like C2-type |
| Q9BQ51 | 120 | 210 | 157 | 157 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 163 | 163 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 189 | 189 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 120 | 210 | 20 | 220 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 121 | 211 | Alternative sequence | ID=VSP_013740;Note=In isoform 2. ASYRKINTHILKVPETDEVELTCQATGYPLAEVSWPNVSVPANTSHSRTPEGLYQVTSVLRLKPPPGRNFSCVFWNTHVRELTLASIDLQS->G;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 210 | 255 | 183 | 273 | Alternative sequence | ID=VSP_013739;Note=In isoform 3. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303|PubMed:15253154;Dbxref=PMID:15253154 |
| Q9BQ51 | 210 | 255 | 20 | 273 | Chain | ID=PRO_0000014555;Note=Programmed cell death 1 ligand 2 |
| Q9BQ51 | 210 | 255 | 229 | 229 | Natural variant | ID=VAR_022449;Note=F->S;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269|PubMed:11224527,ECO:0000269|PubMed:11283156,ECO:0000269|PubMed:15253154,ECO:0000269|PubMed:15489334;Dbxref=dbSNP:rs7854303,PMID:11224527,PMID:112831 |
| Q9BQ51 | 210 | 255 | 241 | 241 | Natural variant | ID=VAR_049843;Note=I->T;Dbxref=dbSNP:rs7854413 |
| Q9BQ51 | 210 | 255 | 20 | 220 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 242 | 273 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9BQ51 | 210 | 255 | 221 | 241 | Transmembrane | Note=Helical;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for PDCD1LG2 |
- Lollipop plot for presenting exon skipping associated SNVs.* Click on the image to enlarge it in a new window. |
- 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 |
| UCEC | TCGA-BK-A0C9-01 | exon_skip_494878 | 5549335 | 5549604 | 5549526 | 5549526 | Frame_Shift_Del | C | - | p.P185fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_494880 | 5557618 | 5557752 | 5557660 | 5557660 | Frame_Shift_Del | T | - | p.I225fs |
| SKCM | TCGA-Z2-A8RT-06 | exon_skip_494878 | 5549335 | 5549604 | 5549346 | 5549346 | Nonsense_Mutation | A | T | p.K125* |
| ESCA | TCGA-L5-A4OI-01 | exon_skip_494880 | 5557618 | 5557752 | 5557753 | 5557756 | Splice_Site | GTAA | - | e4+1 |
- 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 |
| GP2D_LARGE_INTESTINE | 5549335 | 5549604 | 5549526 | 5549526 | Frame_Shift_Del | C | - | p.P186fs |
| GP5D_LARGE_INTESTINE | 5549335 | 5549604 | 5549526 | 5549526 | Frame_Shift_Del | C | - | p.P186fs |
| P31FUJ_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5557618 | 5557752 | 5557627 | 5557627 | Frame_Shift_Del | A | - | p.E214fs |
| DV90_LUNG | 5557618 | 5557752 | 5557629 | 5557629 | Missense_Mutation | C | T | p.P215S |
| KM12_LARGE_INTESTINE | 5557618 | 5557752 | 5557629 | 5557629 | Missense_Mutation | C | T | p.P215S |
| SNU1040_LARGE_INTESTINE | 5557618 | 5557752 | 5557657 | 5557657 | Missense_Mutation | A | G | p.H224R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PDCD1LG2 |
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 PDCD1LG2 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PDCD1LG2 |
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RelatedDrugs for PDCD1LG2 |
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 PDCD1LG2 |
Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |