Description
patched 1 [Source:HGNC Symbol;Acc:9585]
Gene Synonyms
BCNS, HPE7, NBCCS, PTC, PTC1, PTCH, PTCH11
Location
Chromosome 9: 98,205,262-98,279,339 reverse strand.
GRCh37:CM000671.1
About this gene
This gene has 27 transcripts (splice variants), 4 paralogues and is associated with 108 phenotypes.
Transcripts
Show/hide columns (1 hidden)
- Transcript ID
- Name
- bp
- Protein
- Translation ID
- Biotype
- CCDS
- UniProt Match
- RefSeq
- Flags
| Transcript ID | Name | bp | Protein | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|
| ENST00000331920.6 | PTCH1-001 | 8057 | 1447aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6714 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_000264.3 | A single transcript chosen for a gene which is the most conserved, most highly expressed, has the longest coding sequence and is represented in other key resources, such as NCBI and UniProt. This is defined in detail on http://www.ensembl.org/info/genome/genebuild/canonical.htmlEnsembl Canonical, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000430669.2 | PTCH1-003 | 8232 | 1381aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47996 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000437951.1 | PTCH1-203 | 8049 | 1381aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47996 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083603.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000418258.1 | PTCH1-201 | 7815 | 1296aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083607.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000421141.1 | PTCH1-202 | 7659 | 1296aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083605.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000429896.2 | PTCH1-002 | 6563 | 1296aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083606.1 | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000375274.2 | PTCH1-007 | 4720 | 1446aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47995 | A3KBF6 F8VQS6 F8VXL8 Q13635 Q6TKQ0 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, |
| ENST00000468211.2 | PTCH1-006 | 1254 | 183aa | Gene/transcipt that contains an open reading frame (ORF).Protein coding | F8VQS6 Q13635 | - | A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic, | |
| ENST00000375271.4 | PTCH1-005 | 1058 | 352aa | 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, | |
| ENST00000553011.1 | PTCH1-012 | 1037 | 174aa | 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, | |
| ENST00000547672.1 | PTCH1-009 | 881 | 174aa | 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, | |
| ENST00000546820.1 | PTCH1-010 | 864 | 174aa | 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, | |
| ENST00000551845.1 | PTCH1-011 | 809 | 174aa | 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, | |
| ENST00000548420.1 | PTCH1-019 | 553 | 66aa | 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, | |
| ENST00000551630.1 | PTCH1-020 | 539 | 92aa | 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, | |
| ENST00000375290.2 | PTCH1-015 | 10631 | 486aa | Nonsense mediated decay | F8VXL8 H3BLX7 Q3LG18 Q6TKQ0 | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000550914.2 | PTCH1-014 | 630 | 79aa | Nonsense mediated decay | F8VPA3 | - | - | |
| ENST00000551623.1 | PTCH1-016 | 366 | 16aa | Nonsense mediated decay | - | - | 5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete, | |
| ENST00000548379.1 | PTCH1-022 | 548 | No protein | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000553256.1 | PTCH1-021 | 537 | No protein | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000547615.1 | PTCH1-024 | 525 | No protein | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000548945.2 | PTCH1-013 | 243 | No protein | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000551425.1 | PTCH1-008 | 241 | No protein | Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript | - | - | - | |
| ENST00000546744.1 | PTCH1-018 | 4389 | No protein | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000550136.1 | PTCH1-017 | 2388 | No protein | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000549678.1 | PTCH1-023 | 578 | No protein | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - | |
| ENST00000488809.2 | PTCH1-004 | 301 | No protein | An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron | - | - | - |
Showing 1 to 27 of 27 entries
