Description
patched 1 [Source:HGNC Symbol;Acc:9585]
Gene Synonyms
BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11
Location
Chromosome 9: 98,205,262-98,270,943 reverse strand.
About this transcript
This transcript has 24 exons, is annotated with 32 domains and features, is associated with 20416 variant alleles and maps to 1177 oligo probes.
Gene
This transcript is a product of gene ENSG00000185920.11 Show transcript tableHide transcript table
| Name | Transcript ID | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| PTCH1-003 | ENST00000430669.2 | 8232 | 1381aa | ENSP00000410287.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47996 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-001 | ENST00000331920.6 | 8057 | 1447aa | ENSP00000332353.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6714 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_000264 NP_000255 | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-203 | ENST00000437951.1 | 8049 | 1381aa | ENSP00000389744.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47996 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083602 NM_001083603 NP_001077071 NP_001077072 | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-201 | ENST00000418258.1 | 7815 | 1296aa | ENSP00000396135.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083607 NP_001077076 | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-202 | ENST00000421141.1 | 7659 | 1296aa | ENSP00000399981.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083604 NM_001083605 NP_001077073 NP_001077074 | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-002 | ENST00000429896.2 | 6563 | 1296aa | ENSP00000414823.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083606 NP_001077075 | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-007 | ENST00000375274.2 | 4720 | 1446aa | ENSP00000364423.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47995 | A3KBF6 F8VQS6 F8VXL8 Q13635 Q6TKQ0 | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-006 | ENST00000468211.2 | 1254 | 183aa | ENSP00000449745.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 Q13635 | - | The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic, |
| PTCH1-005 | ENST00000375271.4 | 1058 | 352aa | ENSP00000364420.4 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | H0Y3B8 Q3LFT4 | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, |
| PTCH1-012 | ENST00000553011.1 | 1037 | 174aa | ENSP00000447797.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 Q13635 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-009 | ENST00000547672.1 | 881 | 174aa | ENSP00000447878.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 Q13635 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-010 | ENST00000546820.1 | 864 | 174aa | ENSP00000448843.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 Q13635 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-011 | ENST00000551845.1 | 809 | 174aa | ENSP00000447008.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 Q13635 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-019 | ENST00000548420.1 | 553 | 66aa | ENSP00000449078.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VXL8 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-020 | ENST00000551630.1 | 539 | 92aa | ENSP00000450131.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | F8VQS6 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
| PTCH1-015 | ENST00000375290.2 | 10631 | 486aa | ENSP00000364439.2 | Nonsense mediated decay | - | F8VXL8 H3BLX7 Q3LG18 Q6TKQ0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, |
| PTCH1-014 | ENST00000550914.2 | 630 | 79aa | ENSP00000450047.1 | Nonsense mediated decay | - | F8VPA3 | - | - |
| PTCH1-016 | ENST00000551623.1 | 366 | 16aa | ENSP00000447242.1 | Nonsense mediated decay | - | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, |
| PTCH1-022 | ENST00000548379.1 | 548 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| PTCH1-021 | ENST00000553256.1 | 537 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| PTCH1-024 | ENST00000547615.1 | 525 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| PTCH1-013 | ENST00000548945.2 | 243 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| PTCH1-008 | ENST00000551425.1 | 241 | No protein | - | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | - |
| PTCH1-018 | ENST00000546744.1 | 4389 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | - |
| PTCH1-017 | ENST00000550136.1 | 2388 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | - |
| PTCH1-023 | ENST00000549678.1 | 578 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | - |
| PTCH1-004 | ENST00000488809.2 | 301 | No protein | - | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | - |