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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 JPH1 |
 Gene summary |
| Gene information | Gene symbol | JPH1 | Gene ID | 56704 |
| Gene name | junctophilin 1 | |
| Synonyms | CMT2K|JP-1|JP1 | |
| Cytomap | 8q21.11 | |
| Type of gene | protein-coding | |
| Description | junctophilin-1junctophilin type 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q9HDC5 | |
| Context | PubMed: JPH1 [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 JPH1 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 JPH1 |
| 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 JPH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490472 | 8 | 75149467:75149538:75156763:75157410:75171619:75171738 | 75156763:75157410 | ENSG00000104369.4 | ENST00000519947.1,ENST00000342232.4 |
| exon_skip_490473 | 8 | 75156763:75157410:75171619:75171738:75227095:75227855 | 75171619:75171738 | ENSG00000104369.4 | ENST00000519947.1,ENST00000342232.4 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for JPH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_490472 | 8 | 75149467:75149538:75156763:75157410:75171619:75171738 | 75156763:75157410 | ENSG00000104369.4 | ENST00000342232.4,ENST00000519947.1 |
| exon_skip_490473 | 8 | 75156763:75157410:75171619:75171738:75227095:75227855 | 75171619:75171738 | ENSG00000104369.4 | ENST00000342232.4,ENST00000519947.1 |
| 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 JPH1 |
| 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 |
| ENST00000342232 | 75156763 | 75157410 | Frame-shift |
| ENST00000342232 | 75171619 | 75171738 | 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 |
| ENST00000342232 | 75156763 | 75157410 | Frame-shift |
| ENST00000342232 | 75171619 | 75171738 | Frame-shift |
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Infer the effects of exon skipping event on protein functional features for JPH1 |
| 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 JPH1 |
| - 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_490472 | 75156764 | 75157410 | 75156776 | 75156776 | Frame_Shift_Del | T | - | p.K631fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_490472 | 75156764 | 75157410 | 75156776 | 75156776 | Frame_Shift_Del | T | - | p.K631fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_490472 | 75156764 | 75157410 | 75156988 | 75156988 | Frame_Shift_Del | G | - | p.Q561fs |
| LIHC | TCGA-G3-A3CJ-01 | exon_skip_490472 | 75156764 | 75157410 | 75156988 | 75156988 | Frame_Shift_Del | G | - | p.Q561fs |
| LIHC | TCGA-DD-A1EG-01 | exon_skip_490472 | 75156764 | 75157410 | 75157036 | 75157036 | Frame_Shift_Del | C | - | p.E545fs |
| SKCM | TCGA-W3-A824-06 | exon_skip_490472 | 75156764 | 75157410 | 75157084 | 75157084 | Frame_Shift_Del | G | - | p.Q529fs |
| LIHC | TCGA-DD-A39Y-01 | exon_skip_490472 | 75156764 | 75157410 | 75157119 | 75157119 | Frame_Shift_Del | T | - | p.K517fs |
| LIHC | TCGA-DD-A3A0-01 | exon_skip_490473 | 75171620 | 75171738 | 75171714 | 75171714 | Frame_Shift_Del | G | - | p.A388fs |
| KIRC | TCGA-AS-3778-01 | exon_skip_490472 | 75156764 | 75157410 | 75156987 | 75156988 | Frame_Shift_Ins | - | G | p.A561fs |
| COAD | TCGA-AA-3542-01 | exon_skip_490472 | 75156764 | 75157410 | 75157280 | 75157281 | Frame_Shift_Ins | - | G | p.P463fs |
| UCS | TCGA-ND-A4WC-01 | exon_skip_490472 | 75156764 | 75157410 | 75156775 | 75156775 | Nonsense_Mutation | C | A | p.E632* |
| UCS | TCGA-ND-A4WC-01 | exon_skip_490472 | 75156764 | 75157410 | 75156775 | 75156775 | Nonsense_Mutation | C | A | p.E632X |
| HNSC | TCGA-BA-A6DF-01 | exon_skip_490472 | 75156764 | 75157410 | 75157339 | 75157339 | Nonsense_Mutation | C | A | p.E444* |
| STAD | TCGA-CD-8527-01 | exon_skip_490472 | 75156764 | 75157410 | 75157411 | 75157411 | Splice_Site | C | T | . |
| STAD | TCGA-CD-8527-01 | exon_skip_490472 | 75156764 | 75157410 | 75157411 | 75157411 | Splice_Site | C | T | p.G420_splice |
| ESCA | TCGA-JY-A6FG-01 | exon_skip_490473 | 75171620 | 75171738 | 75171619 | 75171619 | Splice_Site | C | T | . |
| ESCA | TCGA-JY-A6FG-01 | exon_skip_490473 | 75171620 | 75171738 | 75171619 | 75171619 | Splice_Site | C | T | e3+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 |
| DAUDI_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75156764 | 75157410 | 75156856 | 75156856 | Missense_Mutation | C | T | p.A605T |
| ES2_OVARY | 75156764 | 75157410 | 75156897 | 75156897 | Missense_Mutation | G | T | p.P591H |
| SW684_SOFT_TISSUE | 75156764 | 75157410 | 75156979 | 75156979 | Missense_Mutation | G | A | p.P564S |
| MALME3M_SKIN | 75156764 | 75157410 | 75156982 | 75156983 | Missense_Mutation | GG | AA | p.P563S |
| MALME3M_SKIN | 75156764 | 75157410 | 75156982 | 75156982 | Missense_Mutation | G | A | p.P563S |
| SNU668_STOMACH | 75156764 | 75157410 | 75157065 | 75157065 | Missense_Mutation | C | T | p.R535H |
| NCIH250_LUNG | 75156764 | 75157410 | 75157065 | 75157065 | Missense_Mutation | C | A | p.R535L |
| HEC1A_ENDOMETRIUM | 75156764 | 75157410 | 75157146 | 75157146 | Missense_Mutation | G | A | p.A508V |
| HEC1_ENDOMETRIUM | 75156764 | 75157410 | 75157146 | 75157146 | Missense_Mutation | G | A | p.A508V |
| HEC1B_ENDOMETRIUM | 75156764 | 75157410 | 75157146 | 75157146 | Missense_Mutation | G | A | p.A508V |
| RERFLCAD1_LUNG | 75156764 | 75157410 | 75157188 | 75157188 | Missense_Mutation | A | G | p.L494P |
| NCIH2110_LUNG | 75156764 | 75157410 | 75157197 | 75157197 | Missense_Mutation | C | A | p.G491V |
| VMRCLCD_LUNG | 75156764 | 75157410 | 75157212 | 75157212 | Missense_Mutation | T | G | p.Q486P |
| DND41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75156764 | 75157410 | 75157219 | 75157219 | Missense_Mutation | T | C | p.K484E |
| JHUEM7_ENDOMETRIUM | 75156764 | 75157410 | 75157300 | 75157300 | Missense_Mutation | G | A | p.R457C |
| HCC2998_LARGE_INTESTINE | 75156764 | 75157410 | 75157364 | 75157364 | Missense_Mutation | T | G | p.K435N |
| LI7_LIVER | 75156764 | 75157410 | 75157389 | 75157389 | Missense_Mutation | C | A | p.R427I |
| RCHACV_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 75171620 | 75171738 | 75171664 | 75171664 | Missense_Mutation | G | A | p.A405V |
| RKO_LARGE_INTESTINE | 75171620 | 75171738 | 75171674 | 75171674 | Missense_Mutation | A | G | p.C402R |
| LAN6_AUTONOMIC_GANGLIA | 75171620 | 75171738 | 75171682 | 75171682 | Missense_Mutation | C | A | p.R399L |
| TE10_OESOPHAGUS | 75171620 | 75171738 | 75171683 | 75171683 | Missense_Mutation | G | A | p.R399C |
| OCUBM_BREAST | 75171620 | 75171738 | 75171700 | 75171700 | Missense_Mutation | T | A | p.Q393L |
| SNU1040_LARGE_INTESTINE | 75171620 | 75171738 | 75171707 | 75171707 | Missense_Mutation | C | T | p.A391T |
| UW228_CENTRAL_NERVOUS_SYSTEM | 75171620 | 75171738 | 75171710 | 75171710 | Missense_Mutation | C | T | p.A390T |
| COLO684_ENDOMETRIUM | 75171620 | 75171738 | 75171717 | 75171717 | Missense_Mutation | C | A | p.K387N |
| JHUEM7_ENDOMETRIUM | 75156764 | 75157410 | 75156775 | 75156775 | Nonsense_Mutation | C | A | p.E632* |
| COLO205_LARGE_INTESTINE | 75156764 | 75157410 | 75157010 | 75157010 | Nonsense_Mutation | G | T | p.Y553* |
| COLO678_LARGE_INTESTINE | 75156764 | 75157410 | 75157010 | 75157010 | Nonsense_Mutation | G | T | p.Y553* |
| OSC19_UPPER_AERODIGESTIVE_TRACT | 75171620 | 75171738 | 75171620 | 75171620 | Splice_Site | C | A | p.G420C |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for JPH1 |
| 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 JPH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for JPH1 |
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RelatedDrugs for JPH1 |
| 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 JPH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
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