Transcript: ENST00000382692.3 DEFA1-201

Description

defensin alpha 1 [Source:HGNC Symbol;Acc:HGNC:2761]

Gene Synonyms

DEF1, DEFA2, HNP-1, MRS

Location

Chromosome 8: 6,977,649-6,980,092 reverse strand.

About this transcript

This transcript has 3 exons, is annotated with 55 domains and features, is associated with 409 variant alleles and maps to 604 oligo probes.

Gene

This transcript is a product of gene ENSG00000206047.4 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000382692.3	DEFA1-201	498	94aa	ENSP00000372139.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS34797	P59665	NM_004084.4	The Matched Annotation from NCBI and EMBL-EBI is a collaboration between Ensembl/GENCODE and RefSeq. The MANE Select is a default transcript per human gene that is representative of biology, well-supported, expressed and highly-conserved. This transcript set matches GRCh38 and is 100% identical between RefSeq and Ensembl/GENCODE for 5' UTR, CDS, splicing and 3'UTR.MANE Select, 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, APPRIS P1: Transcript(s) expected to code for the main functional isoform based solely on the core modules in the APPRIS. APPRIS is a system to annotate alternatively spliced transcripts based on a range of computational methods to identify the most functionally important transcript(s) of a gene. APPRIS P1, TSL 1: A transcript where all splice junctions are supported by at least one non-suspect mRNA. The Transcript Support Level (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users, based on the type and quality of the alignments used to annotate the transcript. TSL:1,

Summary

Statistics

Exons: 3, Coding exons: 2, Transcript length: 498 bps, Translation length: 94 residues

MANE

This MANE Select transcript contains ENSP00000372139 and matches to NM_004084.4 and NP_004075.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: P59665

CCDS

This transcript is a member of the Human CCDS set: CCDS34797

Transcript Support Level (TSL)

TSL:1

Version

ENST00000382692.3

Type

Protein coding

Annotation Method

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

GENCODE basic gene

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

Transcript: ENST00000382692.3 DEFA1-201

Summary

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Transcript: ENST00000382692.3 DEFA1-201

Summary

About Us

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