Transcript: ENST00000425380.2 HYLS1-002

Description

hydrolethalus syndrome 1 [Source:HGNC Symbol;Acc:26558]

Gene Synonyms

FLJ32915, HLS

Location

About this transcript

This transcript has 3 exons, is annotated with 10 domains and features, is associated with 6589 variant alleles and maps to 243 oligo probes.

Gene

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000425380.2	HYLS1-002	2061	299aa	ENSP00000414884.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8467	Q96M11	NM_001134793.1	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000356438.3	HYLS1-001	1810	299aa	ENSP00000348815.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8467	Q96M11	NM_145014.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000526028.1	HYLS1-003	1803	299aa	ENSP00000436833.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS8467	Q96M11	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,

Summary

Statistics

Exons: 3, Coding exons: 1, Transcript length: 2,061 bps, Translation length: 299 residues

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q96M11

CCDS

This transcript is a member of the Human CCDS set: CCDS8467

Version

ENST00000425380.2

Type

Protein coding

Annotation Method

Transcript where the Ensembl genebuild transcript and the Havana manual annotation have the same sequence, for every base pair. See article.

Alternative transcripts

This transcript corresponds to the following database identifiers:

Transcript having exact match between ENSEMBL and HAVANA:	OTTHUMT00000386733 (version 1)

GENCODE basic gene

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