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 137 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000430669.2 | PTCH1-003 | 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. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000331920.6 | PTCH1-001 | 8057 | 1447aa | ENSP00000332353.6 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6714 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_000264.3 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000437951.1 | PTCH1-203 | 8049 | 1381aa | ENSP00000389744.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS47996 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083603.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000418258.1 | PTCH1-201 | 7815 | 1296aa | ENSP00000396135.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083607.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000421141.1 | PTCH1-202 | 7659 | 1296aa | ENSP00000399981.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083605.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000429896.2 | PTCH1-002 | 6563 | 1296aa | ENSP00000414823.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS43851 | F8VQS6 F8VXL8 Q13635 Q6TKQ0 | NM_001083606.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000375274.2 | PTCH1-007 | 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. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000468211.2 | PTCH1-006 | 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. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000375271.4 | PTCH1-005 | 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, | |
| ENST00000553011.1 | PTCH1-012 | 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, | |
| ENST00000547672.1 | PTCH1-009 | 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, | |
| ENST00000546820.1 | PTCH1-010 | 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, | |
| ENST00000551845.1 | PTCH1-011 | 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, | |
| ENST00000548420.1 | PTCH1-019 | 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, | |
| ENST00000551630.1 | PTCH1-020 | 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, | |
| ENST00000375290.2 | PTCH1-015 | 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, | |
| ENST00000550914.2 | PTCH1-014 | 630 | 79aa | ENSP00000450047.1 | Nonsense mediated decay | F8VPA3 | - | - | |
| ENST00000551623.1 | PTCH1-016 | 366 | 16aa | ENSP00000447242.1 | 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 | - | - | - |
