Transcript: ENST00000315765.10 HEPHL1-201

Description

hephaestin like 1 [Source:HGNC Symbol;Acc:HGNC:30477]

Gene Synonyms

DKFZP686F22190, ZP

Location

Chromosome 11: 94,021,354-94,114,208 forward strand.

About this transcript

This transcript has 20 exons, is annotated with 25 domains and features, is associated with 40704 variant alleles and maps to 547 oligo probes.

Gene

This transcript is a product of gene ENSG00000181333.12 Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000315765.10	HEPHL1-201	5809	1159aa	ENSP00000313699.9	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44710	Q6MZM0	NM_001098672.2	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 5: A transcript where no single transcript supports the model structure. 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:5,

Summary

Statistics

Exons: 20, Coding exons: 20, Transcript length: 5,809 bps, Translation length: 1,159 residues

MANE

This MANE Select transcript contains ENSP00000313699 and matches to NM_001098672.2 and NP_001092142.1

Uniprot

This transcript corresponds to the following Uniprot identifiers: Q6MZM0

CCDS

This transcript is a member of the Human CCDS set: CCDS44710

Transcript Support Level (TSL)

TSL:5

Version

ENST00000315765.10

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.

Annotation Attributes

dotter confirmed [Definitions]

not organism-supported

GENCODE basic gene

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

Transcript: ENST00000315765.10 HEPHL1-201

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Transcript: ENST00000315765.10 HEPHL1-201

Summary

About Us

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