Transcript: ENST00000519674.1 TRPS1-007

Description

trichorhinophalangeal syndrome I [Source:HGNC Symbol;Acc:12340]

Gene Synonyms

GC79, LGCR

Location

Chromosome 8: 116,527,417-116,681,130 reverse strand.

About this transcript

This transcript has 5 exons, is annotated with 16 domains and features, is associated with 64310 variant alleles and maps to 234 oligo probes.

Gene

This transcript is a product of gene ENSG00000104447.7 Show transcript tableHide transcript table

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,

Summary

Statistics

Exons: 5, Coding exons: 4, Transcript length: 3,116 bps, Translation length: 902 residues

Version

ENST00000519674.1

Type

Protein coding

Annotation Method

Manual annotation (determined on a case-by-case basis) from the Havana project.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Havana transcript:	OTTHUMT00000380907 (version 1)

GENCODE basic gene

This transcript is a member of the Gencode basic gene set.

Favourite species

All species

Recent locations

Transcript: ENST00000519674.1 TRPS1-007

Summary