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Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
Ontologies
- GO: Anatomical entity
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
External references
Supporting evidence
ID History
- Gene history

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Gene: PAX1 ENSG00000125813

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Description

paired box 1 [Source:HGNC Symbol;Acc:8615]

Gene Synonyms

HUP48, OFC2

Location

Chromosome 20: 21,686,297-21,696,620 forward strand.

GRCh37:CM000682.1

About this gene

This gene has 4 transcripts (splice variants), 220 orthologues, 51 paralogues and is associated with 2 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000398485.2	PAX1-001	2838	534aa	ENSP00000381499.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS13146	P15863	NM_006192.4	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, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000444366.2	PAX1-002	1850	433aa	ENSP00000410355.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		P15863	-	A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.GENCODE Basic,
ENST00000460221.1	PAX1-003	589	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000485038.1	PAX1-004	487	No protein	-	An alternatively spliced transcript believed to contain intronic sequence relative to other, coding, transcripts of the same gene.Retained intron		-	-	-

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Summary

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