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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 PTCH1 |
 Gene summary |
| Gene information | Gene symbol | PTCH1 | Gene ID | 5727 |
| Gene name | patched 1 | |
| Synonyms | BCNS|NBCCS|PTC|PTC1|PTCH | |
| Cytomap | 9q22.32 | |
| Type of gene | protein-coding | |
| Description | protein patched homolog 1 | |
| Modification date | 20180523 | |
| UniProtAcc | Q13635 | |
| Context | PubMed: PTCH1 [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 |
| PTCH1 | GO:0010875 | positive regulation of cholesterol efflux | 21931618 |
| PTCH1 | GO:0072659 | protein localization to plasma membrane | 11278759 |
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Exon skipping events across known transcript of Ensembl for PTCH1 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 PTCH1 |
| 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 PTCH1 |
| Information of exkip skipping event in TCGA. |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505094 | 9 | 98211350:98211605:98212122:98212222:98215759:98215902 | 98212122:98212222 | ENSG00000185920.11 | ENST00000331920.6,ENST00000430669.2,ENST00000429896.2,ENST00000421141.1,ENST00000418258.1,ENST00000437951.1,ENST00000375274.2 |
| exon_skip_505098 | 9 | 98231219:98231435:98232094:98232213:98238315:98238441 | 98232094:98232213 | ENSG00000185920.11 | ENST00000331920.6,ENST00000430669.2,ENST00000429896.2,ENST00000421141.1,ENST00000418258.1,ENST00000437951.1,ENST00000375271.4,ENST00000375274.2 |
| exon_skip_505099 | 9 | 98232094:98232213:98236293:98236425:98238315:98238436 | 98236293:98236425 | ENSG00000185920.11 | ENST00000375290.2 |
| exon_skip_505101 | 9 | 98232094:98232213:98238315:98238441:98239040:98239139 | 98238315:98238441 | ENSG00000185920.11 | ENST00000331920.6,ENST00000430669.2,ENST00000429896.2,ENST00000421141.1,ENST00000418258.1,ENST00000437951.1,ENST00000375271.4,ENST00000375274.2 |
| exon_skip_505102 | 9 | 98239040:98239139:98239828:98239984:98240336:98240468 | 98239828:98239984 | ENSG00000185920.11 | ENST00000331920.6,ENST00000375290.2,ENST00000430669.2,ENST00000429896.2,ENST00000421141.1,ENST00000418258.1,ENST00000437951.1,ENST00000375274.2 |
| exon_skip_505103 | 9 | 98242671:98242870:98247966:98248156:98268688:98268881 | 98247966:98248156 | ENSG00000185920.11 | ENST00000375290.2 |
| exon_skip_505108 | 9 | 98248105:98248156:98268688:98268881:98278750:98278940 | 98268688:98268881 | ENSG00000185920.11 | ENST00000430669.2,ENST00000468211.2,ENST00000437951.1 |
| exon_skip_505109 | 9 | 98248105:98248156:98268688:98268881:98278904:98278940 | 98268688:98268881 | ENSG00000185920.11 | ENST00000375274.2 |
| PSI values of skipped exons in TCGA. |
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Exon skipping events with PSIs in GTEx for PTCH1 |
| Information of exkip skipping event in GTEx |
| Exon skip ID | chr | Exons involved in exon skipping | Skipped exon | ENSG | ENSTs |
| exon_skip_505094 | 9 | 98211350:98211605:98212122:98212222:98215759:98215902 | 98212122:98212222 | ENSG00000185920.11 | ENST00000331920.6,ENST00000437951.1,ENST00000421141.1,ENST00000418258.1,ENST00000430669.2,ENST00000429896.2,ENST00000375274.2 |
| exon_skip_505098 | 9 | 98231219:98231435:98232094:98232213:98238315:98238441 | 98232094:98232213 | ENSG00000185920.11 | ENST00000331920.6,ENST00000437951.1,ENST00000421141.1,ENST00000418258.1,ENST00000430669.2,ENST00000429896.2,ENST00000375274.2,ENST00000375271.4 |
| exon_skip_505099 | 9 | 98232094:98232213:98236293:98236425:98238315:98238436 | 98236293:98236425 | ENSG00000185920.11 | ENST00000375290.2 |
| exon_skip_505101 | 9 | 98232094:98232213:98238315:98238441:98239040:98239139 | 98238315:98238441 | ENSG00000185920.11 | ENST00000331920.6,ENST00000437951.1,ENST00000421141.1,ENST00000418258.1,ENST00000430669.2,ENST00000429896.2,ENST00000375274.2,ENST00000375271.4 |
| exon_skip_505102 | 9 | 98239040:98239139:98239828:98239984:98240336:98240468 | 98239828:98239984 | ENSG00000185920.11 | ENST00000331920.6,ENST00000437951.1,ENST00000421141.1,ENST00000418258.1,ENST00000375290.2,ENST00000430669.2,ENST00000429896.2,ENST00000375274.2 |
| exon_skip_505103 | 9 | 98242671:98242870:98247966:98248156:98268688:98268881 | 98247966:98248156 | ENSG00000185920.11 | ENST00000375290.2 |
| exon_skip_505108 | 9 | 98248105:98248156:98268688:98268881:98278750:98278940 | 98268688:98268881 | ENSG00000185920.11 | ENST00000437951.1,ENST00000430669.2,ENST00000468211.2 |
| exon_skip_505109 | 9 | 98248105:98248156:98268688:98268881:98278904:98278940 | 98268688:98268881 | ENSG00000185920.11 | ENST00000375274.2 |
| 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 PTCH1 |
| 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 |
| ENST00000331920 | 98212122 | 98212222 | Frame-shift |
| ENST00000331920 | 98232094 | 98232213 | Frame-shift |
| ENST00000331920 | 98238315 | 98238441 | In-frame |
| ENST00000331920 | 98239828 | 98239984 | 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 |
| ENST00000331920 | 98212122 | 98212222 | Frame-shift |
| ENST00000331920 | 98232094 | 98232213 | Frame-shift |
| ENST00000331920 | 98238315 | 98238441 | In-frame |
| ENST00000331920 | 98239828 | 98239984 | In-frame |
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Infer the effects of exon skipping event on protein functional features for PTCH1 |
| 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 |
| ENST00000331920 | 8074 | 1447 | 98239828 | 98239984 | 1648 | 1803 | 449 | 501 |
| ENST00000331920 | 8074 | 1447 | 98238315 | 98238441 | 1903 | 2028 | 534 | 576 |
| 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 |
| ENST00000331920 | 8074 | 1447 | 98239828 | 98239984 | 1648 | 1803 | 449 | 501 |
| ENST00000331920 | 8074 | 1447 | 98238315 | 98238441 | 1903 | 2028 | 534 | 576 |
| 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 PTCH1 |
| - 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. |
PTCH1_ESCA_exon_skip_505102_psi_boxplot.png |
PTCH1_HNSC_exon_skip_505102_psi_boxplot.png |
| - 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 |
| COAD | TCGA-F4-6570-01 | exon_skip_505098 | 98232095 | 98232213 | 98232166 | 98232166 | Frame_Shift_Del | A | - | p.P442fs |
| LIHC | TCGA-WJ-A86L-01 | exon_skip_505098 | 98232095 | 98232213 | 98232184 | 98232184 | Frame_Shift_Del | G | - | p.M587fs |
| STAD | TCGA-BR-8363-01 | exon_skip_505108 exon_skip_505109 | 98268689 | 98268881 | 98268793 | 98268793 | Frame_Shift_Del | T | - | p.N97fs |
| COAD | TCGA-AZ-4615-01 | exon_skip_505108 exon_skip_505109 | 98268689 | 98268881 | 98268792 | 98268793 | Frame_Shift_Ins | - | T | p.N31fs |
| COAD | TCGA-D5-6930-01 | exon_skip_505108 exon_skip_505109 | 98268689 | 98268881 | 98268792 | 98268793 | Frame_Shift_Ins | - | T | p.N31fs |
| STAD | TCGA-BR-8683-01 | exon_skip_505098 | 98232095 | 98232213 | 98232138 | 98232138 | Nonsense_Mutation | G | A | p.R602* |
| STAD | TCGA-BR-8683-01 | exon_skip_505098 | 98232095 | 98232213 | 98232138 | 98232138 | Nonsense_Mutation | G | A | p.R602X |
| UCEC | TCGA-B5-A11E-01 | exon_skip_505098 | 98232095 | 98232213 | 98232138 | 98232138 | Nonsense_Mutation | G | A | p.R602* |
| MESO | TCGA-ZN-A9VV-01 | exon_skip_505101 | 98238316 | 98238441 | 98238318 | 98238318 | Nonsense_Mutation | G | A | p.Q510* |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_505101 | 98238316 | 98238441 | 98238411 | 98238411 | Nonsense_Mutation | C | A | p.G479* |
| UCS | TCGA-N7-A4Y0-01 | exon_skip_505101 | 98238316 | 98238441 | 98238411 | 98238411 | Nonsense_Mutation | C | A | p.G545X |
| HNSC | TCGA-F7-A61S-01 | exon_skip_505101 | 98238316 | 98238441 | 98238420 | 98238420 | Nonsense_Mutation | T | A | p.K476* |
| HNSC | TCGA-CV-6951-01 | exon_skip_505102 | 98239829 | 98239984 | 98239882 | 98239882 | Nonsense_Mutation | C | A | p.G418* |
| HNSC | TCGA-CV-6951-01 | exon_skip_505102 | 98239829 | 98239984 | 98239882 | 98239882 | Nonsense_Mutation | C | A | p.G484* |
| HNSC | TCGA-CN-5359-01 | exon_skip_505101 | 98238316 | 98238441 | 98238315 | 98238315 | Splice_Site | C | A | p.Q576_splice |
| ESCA | TCGA-VR-A8EW-01 | exon_skip_505102 | 98239829 | 98239984 | 98239986 | 98239986 | Splice_Site | T | A | . |
| ESCA | TCGA-VR-A8EW-01 | exon_skip_505102 | 98239829 | 98239984 | 98239986 | 98239986 | Splice_Site | T | A | e10-2 |
| - Depth of coverage in the three exons composing exon skipping event |
| Depth of coverage in three exons | Mutation description |
 | Sample: TCGA-VR-A8EW-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_505102 | |
| Skipped exon start: 98239829 | |
| Skipped exon end: 98239984 | |
| Mutation start: 98239986 | |
| Mutation end: 98239986 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: . | |
| Sample: TCGA-VR-A8EW-01 |
| Cancer type: ESCA | |
| ESID: exon_skip_505102 | |
| Skipped exon start: 98239829 | |
| Skipped exon end: 98239984 | |
| Mutation start: 98239986 | |
| Mutation end: 98239986 | |
| Mutation type: Splice_Site | |
| Reference seq: T | |
| Mutation seq: A | |
| AAchange: e10-2 | |
exon_skip_505102_ESCA_TCGA-VR-A8EW-01.png | |
| - 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 |
| ES3_BONE | 98232095 | 98232213 | 98232166 | 98232167 | Frame_Shift_Del | AA | - | p.F592fs |
| CW2_LARGE_INTESTINE | 98268689 | 98268881 | 98268792 | 98268793 | Frame_Shift_Ins | - | T | p.N97fs |
| NCIH460_LUNG | 98268689 | 98268881 | 98268792 | 98268793 | Frame_Shift_Ins | - | T | p.N97fs |
| NCIBL1395_MATCHED_NORMAL_TISSUE | 98212123 | 98212222 | 98212134 | 98212134 | Missense_Mutation | G | C | p.P1180A |
| NCIH1395_LUNG | 98212123 | 98212222 | 98212134 | 98212134 | Missense_Mutation | G | C | p.P1180A |
| DV90_LUNG | 98232095 | 98232213 | 98232132 | 98232132 | Missense_Mutation | C | T | p.E604K |
| SNU1040_LARGE_INTESTINE | 98232095 | 98232213 | 98232135 | 98232135 | Missense_Mutation | G | A | p.R603C |
| NCIH835_LUNG | 98238316 | 98238441 | 98238329 | 98238329 | Missense_Mutation | G | C | p.A572G |
| KE37_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE | 98238316 | 98238441 | 98238332 | 98238332 | Missense_Mutation | C | T | p.R571Q |
| A172_CENTRAL_NERVOUS_SYSTEM | 98239829 | 98239984 | 98239858 | 98239858 | Missense_Mutation | C | T | p.G492R |
| SW48_LARGE_INTESTINE | 98239829 | 98239984 | 98239971 | 98239971 | Missense_Mutation | C | T | p.C454Y |
| SNU1040_LARGE_INTESTINE | 98247967 | 98248156 | 98248012 | 98248012 | Missense_Mutation | T | C | p.D180G |
| SH10TC_STOMACH | 98247967 | 98248156 | 98248051 | 98248051 | Missense_Mutation | G | A | p.A167V |
| TGBC11TKB_STOMACH | 98247967 | 98248156 | 98248153 | 98248153 | Missense_Mutation | C | T | p.G133E |
| SKMEL2_SKIN | 98268689 | 98268881 | 98268811 | 98268812 | Missense_Mutation | CC | TT | p.G91N |
| SKMEL2_SKIN | 98268689 | 98268881 | 98268811 | 98268811 | Missense_Mutation | C | T | p.G91D |
| SKMEL2_SKIN | 98268689 | 98268881 | 98268812 | 98268812 | Missense_Mutation | C | T | p.G91S |
| KYSE50_OESOPHAGUS | 98238316 | 98238441 | 98238429 | 98238429 | Nonsense_Mutation | C | A | p.E539* |
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Splicing Quantitative Trait Loci (sQTL) in the exon skipping event for PTCH1 |
| 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 |
| exon_skip_505101 | 9 | 98232094:98232213:98238315:98238441:98239040:98239139 | 98238315:98238441 | ENST00000331920.6,ENST00000430669.2,ENST00000429896.2,ENST00000421141.1,ENST00000418258.1,ENST00000437951.1,ENST00000375271.4,ENST00000375274.2 | LGG | rs2066836 | chr9:98238358 | A/G | 1.90e-03 |
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Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTCH1 |
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Survival analysis of Splicing Quantitative Trait Methylation (sQTM) in the skipped exon for PTCH1 |
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RelatedDrugs for PTCH1 |
| 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 PTCH1 |
| Diseases associated with this gene. (DisGeNet 4.0) |
| Gene | Disease ID | Disease name | # pubmeds | Source |
| PTCH1 | C0004779 | Basal Cell Nevus Syndrome | 13 | CTD_human;ORPHANET;UNIPROT |
| PTCH1 | C0007117 | Basal cell carcinoma | 3 | CTD_human;HPO |
| PTCH1 | C0025149 | Medulloblastoma | 3 | CTD_human;HPO |
| PTCH1 | C1835820 | HOLOPROSENCEPHALY 7 | 3 | CTD_human;UNIPROT |
| PTCH1 | C0376634 | Craniofacial Abnormalities | 2 | CTD_human |
| PTCH1 | C0006118 | Brain Neoplasms | 1 | CTD_human |
| PTCH1 | C0008924 | Cleft Lip | 1 | CTD_human;HPO |
| PTCH1 | C0008925 | Cleft Palate | 1 | CTD_human;HPO |
| PTCH1 | C0019693 | HIV Infections | 1 | CTD_human |
| PTCH1 | C0030297 | Pancreatic Neoplasm | 1 | CTD_human |
| PTCH1 | C0035412 | Rhabdomyosarcoma | 1 | CTD_human |
| PTCH1 | C0037286 | Skin Neoplasms | 1 | CTD_human |
| PTCH1 | C0206663 | Neuroectodermal Tumor, Primitive | 1 | CTD_human |
Copyright 2018-Present -The University of Texas Health Science Center at Houston (UTHealth)
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