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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 JPH3 |
 Gene summary |
| Gene information | Gene symbol | JPH3 | Gene ID | 57338 |
| Gene name | junctophilin 3 | |
| Synonyms | CAGL237|HDL2|JP-3|JP3|TNRC22 | |
| Cytomap | 16q24.2 | |
| Type of gene | protein-coding | |
| Description | junctophilin-3junctophilin type 3trinucleotide repeat containing 22 | |
| Modification date | 20180523 | |
| UniProtAcc | Q8WXH2 | |
| Context | PubMed: JPH3 [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 JPH3 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 JPH3 |
| 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 JPH3 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139250 | 16 | 87717747:87717872:87723251:87724132:87730185:87730408 | 87723251:87724132 | ENSG00000154118.8 | ENST00000537256.1,ENST00000284262.2,ENST00000563609.1 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for JPH3 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_139250 | 16 | 87717747:87717872:87723251:87724132:87730185:87730408 | 87723251:87724132 | ENSG00000154118.8 | ENST00000537256.1,ENST00000284262.2,ENST00000563609.1 |
| 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 JPH3 |
| 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 |
| ENST00000284262 | 87723251 | 87724132 | Frame-shift |
| 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 |
| ENST00000284262 | 87723251 | 87724132 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for JPH3 |
| 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 JPH3 |
| - 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-DD-A3A0-01 | exon_skip_139250 | 87723252 | 87724132 | 87723320 | 87723320 | Frame_Shift_Del | C | - | p.P452fs |
| HNSC | TCGA-D6-A4Z9-01 | exon_skip_139250 | 87723252 | 87724132 | 87723649 | 87723649 | Frame_Shift_Del | G | - | p.S561fs |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_139250 | 87723252 | 87724132 | 87723837 | 87723838 | Frame_Shift_Ins | - | C | p.P624fs |
| ESCA | TCGA-L5-A8NU-01 | exon_skip_139250 | 87723252 | 87724132 | 87723837 | 87723838 | Frame_Shift_Ins | - | C | p.P625fs |
| LIHC | TCGA-ES-A2HS-01 | exon_skip_139250 | 87723252 | 87724132 | 87723326 | 87723326 | Nonsense_Mutation | C | T | p.Q454X |
| STAD | TCGA-BR-4361-01 | exon_skip_139250 | 87723252 | 87724132 | 87723329 | 87723329 | Nonsense_Mutation | C | T | p.Q455* |
| STAD | TCGA-BR-4361-01 | exon_skip_139250 | 87723252 | 87724132 | 87723329 | 87723329 | Nonsense_Mutation | C | T | p.Q455X |
| - 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 |
| NCIH740_LUNG | 87723252 | 87724132 | 87723314 | 87723314 | Frame_Shift_Del | G | - | p.G450fs |
| LB2518MEL_SKIN | 87723252 | 87724132 | 87723341 | 87723341 | Missense_Mutation | G | A | p.E459K |
| MM386_SKIN | 87723252 | 87724132 | 87723371 | 87723371 | Missense_Mutation | G | A | p.D469N |
| SNU1_STOMACH | 87723252 | 87724132 | 87723383 | 87723383 | Missense_Mutation | G | A | p.D473N |
| MCC142_SKIN | 87723252 | 87724132 | 87723497 | 87723497 | Missense_Mutation | C | T | p.R511W |
| NCIH630_LARGE_INTESTINE | 87723252 | 87724132 | 87723549 | 87723549 | Missense_Mutation | G | A | p.R528H |
| SW954_VULVA | 87723252 | 87724132 | 87723689 | 87723689 | Missense_Mutation | C | T | p.R575W |
| RL952_ENDOMETRIUM | 87723252 | 87724132 | 87723707 | 87723707 | Missense_Mutation | G | A | p.V581M |
| HEC108_ENDOMETRIUM | 87723252 | 87724132 | 87723750 | 87723750 | Missense_Mutation | C | A | p.P595H |
| KYSE270_OESOPHAGUS | 87723252 | 87724132 | 87723885 | 87723885 | Missense_Mutation | G | A | p.G640E |
| TE1_OESOPHAGUS | 87723252 | 87724132 | 87723889 | 87723889 | Missense_Mutation | C | G | p.D641E |
| MERO25_LUNG | 87723252 | 87724132 | 87723927 | 87723927 | Missense_Mutation | G | C | p.R654T |
| PANC1005_PANCREAS | 87723252 | 87724132 | 87723977 | 87723977 | Missense_Mutation | G | A | p.A671T |
| HCC1438_LUNG | 87723252 | 87724132 | 87723923 | 87723923 | Nonsense_Mutation | C | T | p.Q653* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for JPH3 |
| 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 JPH3 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JPH3 |
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RelatedDrugs for JPH3 |
| 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 JPH3 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| JPH3 | C0009404 | Colorectal Neoplasms | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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