Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
Phenotypes
Genetic Variation
Gene expression
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: EGLN1 ENSG00000135766

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Description

egl-9 family hypoxia inducible factor 1 [Source:HGNC Symbol;Acc:HGNC:1232]

Synonyms

ZMYND6, HIFPH2, C1orf12, PHD2, SM-20

Location

Chromosome 1: 231,363,751-231,425,044 reverse strand.

GRCh38:CM000663.2

About this gene

This gene has 2 transcripts (splice variants), 68 orthologues, 3 paralogues, is a member of 1 Ensembl protein family and is associated with 3 phenotypes.

Transcripts

Show transcript tableHide transcript table

Name	Transcript ID	bp	Protein	Translation ID	Biotype	CCDS	UniProt	RefSeq	Flags
EGLN1-201	ENST00000366641.3	7097	426aa	ENSP00000355601	<p>Genes and/or transcript that contains an open reading frame (ORF).</p>Protein coding	CCDS1595	Q9GZT9 R4SCQ0	NM_022051 NP_071334	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1The GENCODE set is the gene set for human and mouse. <a href="/Help/Glossary?id=500" class="popup">GENCODE Basic</a> is a subset of representative transcripts (splice variants).GENCODE basic<p>PRINCIPAL1 - APPRIS candidate principal isoform.</p><p><a class="popup" href="/Homo_sapiens/Help/Glossary?id=521">APPRIS</a> is a system to annotate alternatively spliced transcripts based on a range of computational methods.</p>APPRIS P1
EGLN1-202	ENST00000476717.1	829	No protein	-	<p>Transcripts that don't contain an open reading frame (ORF) and cannot be placed in one of the other categories.</p>Processed transcript	-	-	-	<p>Transcript Support Level 1, when transcripts are supported by at least one non-suspect mRNA.</p><p>The <a href="https://genome.ucsc.edu/cgi-bin/hgc?hgsid=423831555_sqRhAapgi8atmzzBPBAz8Me5797J&c=chr14&o=94517268&t=94547548&g=wgEncodeGencodeCompV19&i=ENST00000544005.1#tsl" target="_self">Transcript Support Level</a> (TSL) is a method to highlight the well-supported and poorly-supported transcript models for users. The method relies on the primary data that can support full-length transcript structure: mRNA and EST alignments supplied by UCSC and Ensembl.</p>TSL:1

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Summary

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Gene-based displays