Description
trichorhinophalangeal syndrome I [Source:HGNC Symbol;Acc:12340]
Gene Synonyms
GC79, LGCR
Location
Chromosome 8: 116,420,724-116,821,899 reverse strand.
GRCh37:CM000670.1
About this gene
This gene has 11 transcripts (splice variants), 6 paralogues and is associated with 8 phenotypes.
Transcripts
| Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
|---|---|---|---|---|---|---|---|---|---|
| ENST00000395715.3 | TRPS1-001 | 9990 | 1294aa | ENSP00000379065.3 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS6318 | C9J6L7 E7EVN4 F8W8T0 Q9UHF7 | NM_014112.2 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000220888.5 | TRPS1-002 | 5480 | 1281aa | ENSP00000220888.5 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | Q9UHF7 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000520276.1 | TRPS1-006 | 4083 | 1285aa | ENSP00000428680.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | CCDS64957 | Q9UHF7 | NM_001282902.1 | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, |
| ENST00000519076.1 | TRPS1-009 | 3329 | 1035aa | ENSP00000428910.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RFF3 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000519674.1 | TRPS1-007 | 3116 | 902aa | ENSP00000429174.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | E5RJ97 | - | The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, | |
| ENST00000517323.2 | TRPS1-008 | 2171 | 691aa | ENSP00000430803.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | H0YC29 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000518018.1 | TRPS1-011 | 813 | 271aa | ENSP00000428121.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete, | |
| ENST00000519815.1 | TRPS1-010 | 584 | 108aa | ENSP00000430383.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 E7EVN4 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000395713.2 | TRPS1-005 | 581 | 117aa | ENSP00000379063.2 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 E7EVN4 F8W8T0 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000422939.1 | TRPS1-004 | 581 | 61aa | ENSP00000405028.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | C9J6L7 | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, | |
| ENST00000451156.1 | TRPS1-003 | 569 | 9aa | ENSP00000400360.1 | Gene/transcipt that contains an open reading frame (ORF).Protein coding | - | - | 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete, |
