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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 CD274 |
 Gene summary |
| Gene information | Gene symbol | CD274 | Gene ID | 29126 |
| Gene name | CD274 molecule | |
| Synonyms | B7-H|B7H1|PD-L1|PDCD1L1|PDCD1LG1|PDL1 | |
| Cytomap | 9p24.1 | |
| Type of gene | protein-coding | |
| Description | programmed cell death 1 ligand 1B7 homolog 1CD274 antigenPDCD1 ligand 1 | |
| Modification date | 20180527 | |
| UniProtAcc | Q9NZQ7 | |
| Context | PubMed: CD274 [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 |
| CD274 | GO:0006955 | immune response | 10581077 |
| CD274 | GO:0007165 | signal transduction | 10581077 |
| CD274 | GO:0007166 | cell surface receptor signaling pathway | 10581077 |
| CD274 | GO:0031295 | T cell costimulation | 10581077 |
| CD274 | GO:0034097 | response to cytokine | 17489864 |
| CD274 | GO:1905399 | regulation of activated CD4-positive, alpha-beta T cell apoptotic process | 24187568 |
| CD274 | GO:1905404 | positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process | 24187568 |
| CD274 | GO:2001181 | positive regulation of interleukin-10 secretion | 10581077 |
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Exon skipping events across known transcript of Ensembl for CD274 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 CD274 |
| 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 CD274 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494871 | 9 | 5450524:5450596:5456099:5456165:5457078:5457420 | 5456099:5456165 | ENSG00000120217.9 | ENST00000381577.3 |
| exon_skip_494874 | 9 | 5456099:5456165:5457078:5457420:5462833:5463121 | 5457078:5457420 | ENSG00000120217.9 | ENST00000498261.1,ENST00000381577.3 |
| exon_skip_494875 | 9 | 5465498:5465606:5466769:5466829:5467839:5467866 | 5466769:5466829 | ENSG00000120217.9 | ENST00000381577.3,ENST00000381573.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for CD274 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_494871 | 9 | 5450524:5450596:5456099:5456165:5457078:5457420 | 5456099:5456165 | ENSG00000120217.9 | ENST00000381577.3 |
| exon_skip_494874 | 9 | 5456099:5456165:5457078:5457420:5462833:5463121 | 5457078:5457420 | ENSG00000120217.9 | ENST00000381577.3,ENST00000498261.1 |
| exon_skip_494875 | 9 | 5465498:5465606:5466769:5466829:5467839:5467866 | 5466769:5466829 | ENSG00000120217.9 | ENST00000381573.4,ENST00000381577.3 |
| 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 CD274 |
| 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 |
| ENST00000381577 | 5456099 | 5456165 | 5CDS-5UTR |
| ENST00000381577 | 5457078 | 5457420 | In-frame |
| ENST00000381577 | 5466769 | 5466829 | 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 |
| ENST00000381577 | 5456099 | 5456165 | 5CDS-5UTR |
| ENST00000381577 | 5457078 | 5457420 | In-frame |
| ENST00000381577 | 5466769 | 5466829 | In-frame |
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Infer the effects of exon skipping event on protein functional features for CD274 |
| 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 |
| ENST00000381577 | 3661 | 290 | 5457078 | 5457420 | 139 | 480 | 17 | 131 |
| ENST00000381577 | 3661 | 290 | 5466769 | 5466829 | 877 | 936 | 263 | 283 |
| 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 |
| ENST00000381577 | 3661 | 290 | 5457078 | 5457420 | 139 | 480 | 17 | 131 |
| ENST00000381577 | 3661 | 290 | 5466769 | 5466829 | 877 | 936 | 263 | 283 |
| 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 |
| Q9NZQ7 | 17 | 131 | 19 | 132 | Alternative sequence | ID=VSP_013735;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15780196,ECO:0000303|Ref.4;Dbxref=PMID:15780196 |
| Q9NZQ7 | 17 | 131 | 26 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 36 | 41 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 45 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5C3T |
| Q9NZQ7 | 17 | 131 | 54 | 59 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 85 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 96 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 110 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 19 | 290 | Chain | ID=PRO_0000014553;Note=Programmed cell death 1 ligand 1 |
| Q9NZQ7 | 17 | 131 | 40 | 114 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:18287011;Dbxref=PMID:18287011 |
| Q9NZQ7 | 17 | 131 | 19 | 127 | Domain | Note=Ig-like V-type |
| Q9NZQ7 | 17 | 131 | 35 | 35 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 50 | 52 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 74 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 79 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 89 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 106 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 1 | 18 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 19 | 238 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 82 | 84 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 263 | 283 | 179 | 290 | Alternative sequence | ID=VSP_013737;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15780196;Dbxref=PMID:14702039,PMID:15780196 |
| Q9NZQ7 | 263 | 283 | 19 | 290 | Chain | ID=PRO_0000014553;Note=Programmed cell death 1 ligand 1 |
| Q9NZQ7 | 263 | 283 | 260 | 290 | Topological domain | Note=Cytoplasmic;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 |
| Q9NZQ7 | 17 | 131 | 19 | 132 | Alternative sequence | ID=VSP_013735;Note=In isoform 2. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:15780196,ECO:0000303|Ref.4;Dbxref=PMID:15780196 |
| Q9NZQ7 | 17 | 131 | 26 | 31 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 36 | 41 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 45 | 47 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5C3T |
| Q9NZQ7 | 17 | 131 | 54 | 59 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 62 | 68 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 85 | 87 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 96 | 103 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 110 | 131 | Beta strand | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 19 | 290 | Chain | ID=PRO_0000014553;Note=Programmed cell death 1 ligand 1 |
| Q9NZQ7 | 17 | 131 | 40 | 114 | Disulfide bond | Ontology_term=ECO:0000255,ECO:0000269;evidence=ECO:0000255|PROSITE-ProRule:PRU00114,ECO:0000269|PubMed:18287011;Dbxref=PMID:18287011 |
| Q9NZQ7 | 17 | 131 | 19 | 127 | Domain | Note=Ig-like V-type |
| Q9NZQ7 | 17 | 131 | 35 | 35 | Glycosylation | Note=N-linked (GlcNAc...) asparagine;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 50 | 52 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 74 | 76 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 79 | 81 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 89 | 94 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 106 | 108 | Helix | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 17 | 131 | 1 | 18 | Signal peptide | Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 19 | 238 | Topological domain | Note=Extracellular;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
| Q9NZQ7 | 17 | 131 | 82 | 84 | Turn | Ontology_term=ECO:0000244;evidence=ECO:0000244|PDB:5O45 |
| Q9NZQ7 | 263 | 283 | 179 | 290 | Alternative sequence | ID=VSP_013737;Note=In isoform 3. Missing;Ontology_term=ECO:0000303,ECO:0000303;evidence=ECO:0000303|PubMed:14702039,ECO:0000303|PubMed:15780196;Dbxref=PMID:14702039,PMID:15780196 |
| Q9NZQ7 | 263 | 283 | 19 | 290 | Chain | ID=PRO_0000014553;Note=Programmed cell death 1 ligand 1 |
| Q9NZQ7 | 263 | 283 | 260 | 290 | Topological domain | Note=Cytoplasmic;Ontology_term=ECO:0000255;evidence=ECO:0000255 |
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SNVs in the skipped exons for CD274 |
| - 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 |
| DLBC | TCGA-FA-8693-01 | exon_skip_494874 | 5457079 | 5457420 | 5457196 | 5457196 | Nonsense_Mutation | G | A | p.W57X |
| - 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 |
| SCMCRM2_SOFT_TISSUE | 5457079 | 5457420 | 5457096 | 5457096 | Missense_Mutation | C | T | p.P24S |
| HEC108_ENDOMETRIUM | 5457079 | 5457420 | 5457184 | 5457184 | Missense_Mutation | T | C | p.L53P |
| JHH7_LIVER | 5457079 | 5457420 | 5457282 | 5457282 | Missense_Mutation | C | T | p.R86W |
| OC316_OVARY | 5457079 | 5457420 | 5457306 | 5457306 | Missense_Mutation | C | A | p.L94M |
| OC314_OVARY | 5457079 | 5457420 | 5457306 | 5457306 | Missense_Mutation | C | A | p.L94M |
| TOV21G_OVARY | 5457079 | 5457420 | 5457316 | 5457316 | Missense_Mutation | C | T | p.A97V |
| HCC1569_BREAST | 5457079 | 5457420 | 5457370 | 5457370 | Missense_Mutation | T | C | p.M115T |
| SNU520_STOMACH | 5456100 | 5456165 | 5456164 | 5456164 | Splice_Site | C | T | p.N17N |
| CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 5456100 | 5456165 | 5456116 | 5456116 | Start_Codon_SNP | G | T | p.M1I |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for CD274 |
| 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 CD274 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for CD274 |
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RelatedDrugs for CD274 |
| 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 |
| Q9NZQ7 | DB11595 | Atezolizumab | Programmed cell death 1 ligand 1 {ECO:0000303|PubMed:28813417} | biotech | approved|investigational | |
| Q9NZQ7 | DB11714 | Durvalumab | Programmed cell death 1 ligand 1 {ECO:0000303|PubMed:28813417} | biotech | approved|investigational | |
| Q9NZQ7 | DB11945 | Avelumab | Programmed cell death 1 ligand 1 {ECO:0000303|PubMed:28813417} | biotech | approved|investigational |
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RelatedDiseases for CD274 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| CD274 | C0020517 | Hypersensitivity | 2 | CTD_human |
| CD274 | C0236969 | Substance-Related Disorders | 1 | CTD_human |
| CD274 | C2239176 | Liver carcinoma | 1 | CTD_human |
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