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

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Gene: PAX4 ENSG00000106331

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Description

paired box 4 [Source:HGNC Symbol;Acc:8618]

Gene Synonyms

KPD, MODY9

Location

Chromosome 7: 127,250,346-127,255,982 reverse strand.

GRCh37:CM000669.1

About this gene

This gene has 6 transcripts (splice variants), 8 paralogues and is associated with 5 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000341640.2	PAX4-001	2010	343aa	ENSP00000339906.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS5797	O43316	NM_006193.2	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,
ENST00000338516.3	PAX4-201	1772	273aa	ENSP00000344297.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		O43316	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000463946.1	PAX4-002	1613	341aa	ENSP00000451923.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		G3V4Q1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000378740.2	PAX4-004	1088	340aa	ENSP00000368014.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding		J3KPG0	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000483494.1	PAX4-003	1565	257aa	ENSP00000473846.1	Nonsense mediated decay		Q3KNR5	-	-
ENST00000477423.1	PAX4-005	935	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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