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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 PCDH7 |
 Gene summary |
| Gene information | Gene symbol | PCDH7 | Gene ID | 5099 |
| Gene name | protocadherin 7 | |
| Synonyms | BH-Pcdh|BHPCDH|PPP1R120 | |
| Cytomap | 4p15.1 | |
| Type of gene | protein-coding | |
| Description | protocadherin-7BH-protocadherin (brain-heart)brain-heart protocadherinprotein phosphatase 1, regulatory subunit 120 | |
| Modification date | 20180523 | |
| UniProtAcc | O60245 | |
| Context | PubMed: PCDH7 [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 PCDH7 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 PCDH7 |
| 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 PCDH7 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422966 | 4 | 30726062:30726218:30921774:30921967:31144094:31144353 | 30921774:30921967 | ENSG00000169851.11 | ENST00000511884.2 |
| exon_skip_422968 | 4 | 30726062:30726218:30921774:30921991:31144094:31144353 | 30921774:30921991 | ENSG00000169851.11 | ENST00000543491.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PCDH7 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_422966 | 4 | 30726062:30726218:30921774:30921967:31144094:31144353 | 30921774:30921967 | ENSG00000169851.11 | ENST00000511884.2 |
| exon_skip_422968 | 4 | 30726062:30726218:30921774:30921991:31144094:31144353 | 30921774:30921991 | ENSG00000169851.11 | ENST00000543491.1 |
| 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 PCDH7 |
| 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 |
| 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 |
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Infer the effects of exon skipping event on protein functional features for PCDH7 |
| 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 |
| 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 |
| 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 |
| 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 |
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SNVs in the skipped exons for PCDH7 |
| - 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-BC-A3KG-01 | exon_skip_422966 | 30921775 | 30921967 | 30921917 | 30921917 | Frame_Shift_Del | T | - | p.L1106fs |
| LIHC | TCGA-BC-A3KG-01 | exon_skip_422968 | 30921775 | 30921991 | 30921917 | 30921917 | Frame_Shift_Del | T | - | p.L1106fs |
| LUAD | TCGA-78-7159-01 | exon_skip_422966 | 30921775 | 30921967 | 30921902 | 30921903 | Frame_Shift_Ins | - | A | p.P1101fs |
| LUAD | TCGA-78-7159-01 | exon_skip_422966 | 30921775 | 30921967 | 30921902 | 30921903 | Frame_Shift_Ins | - | A | p.Q1101fs |
| LUAD | TCGA-78-7159-01 | exon_skip_422968 | 30921775 | 30921991 | 30921902 | 30921903 | Frame_Shift_Ins | - | A | p.P1101fs |
| LUAD | TCGA-78-7159-01 | exon_skip_422968 | 30921775 | 30921991 | 30921902 | 30921903 | Frame_Shift_Ins | - | A | p.Q1101fs |
| BRCA | TCGA-E2-A10B-01 | exon_skip_422966 | 30921775 | 30921967 | 30921826 | 30921826 | Nonsense_Mutation | C | T | p.Q1029* |
| BRCA | TCGA-E2-A10B-01 | exon_skip_422968 | 30921775 | 30921991 | 30921826 | 30921826 | Nonsense_Mutation | C | T | p.Q1029* |
| UCS | TCGA-N9-A4Q8-01 | exon_skip_422968 | 30921775 | 30921991 | 30921970 | 30921970 | Nonsense_Mutation | G | T | p.E1124* |
| UCS | TCGA-N9-A4Q8-01 | exon_skip_422968 | 30921775 | 30921991 | 30921970 | 30921970 | Nonsense_Mutation | G | T | p.E1124X |
| - 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 |
| NCIH2810_PLEURA | 30921775 | 30921991 | 30921839 | 30921839 | Missense_Mutation | A | G | p.Q1080R |
| NCIH2810_PLEURA | 30921775 | 30921967 | 30921839 | 30921839 | Missense_Mutation | A | G | p.Q1080R |
| HEC1A_ENDOMETRIUM | 30921775 | 30921991 | 30921854 | 30921854 | Missense_Mutation | G | A | p.S1085N |
| HEC1A_ENDOMETRIUM | 30921775 | 30921967 | 30921854 | 30921854 | Missense_Mutation | G | A | p.S1085N |
| LCLC97TM1_LUNG | 30921775 | 30921991 | 30921859 | 30921859 | Missense_Mutation | C | A | p.L1087M |
| LCLC97TM1_LUNG | 30921775 | 30921967 | 30921859 | 30921859 | Missense_Mutation | C | A | p.L1087M |
| OVK18_OVARY | 30921775 | 30921991 | 30921899 | 30921899 | Missense_Mutation | G | C | p.G1100A |
| OVK18_OVARY | 30921775 | 30921967 | 30921899 | 30921899 | Missense_Mutation | G | C | p.G1100A |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30921775 | 30921991 | 30921950 | 30921950 | Missense_Mutation | C | G | p.T1117R |
| BE13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 30921775 | 30921967 | 30921950 | 30921950 | Missense_Mutation | C | G | p.T1117R |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PCDH7 |
| 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 PCDH7 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PCDH7 |
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RelatedDrugs for PCDH7 |
| 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 PCDH7 |
| 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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