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: PAX7 ENSG00000009709

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Description

paired box 7 [Source:HGNC Symbol;Acc:HGNC:8621]

Gene Synonyms

HUP1

Location

Chromosome 1: 18,630,846-18,748,866 forward strand.

GRCh38:CM000663.2

About this gene

This gene has 6 transcripts (splice variants), 246 orthologues, 50 paralogues and is associated with 68 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000420770.7	PAX7-203	6213	505aa	ENSP00000403389.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44074	P23759-3	NM_001135254.2	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 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,
ENST00000713640.1	PAX7-204	6309	537aa	ENSP00000518941.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000375375.7	PAX7-201	2260	520aa	ENSP00000364524.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS186	P23759-1	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, 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,
ENST00000400661.3	PAX7-202	1700	518aa	ENSP00000383502.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS44075	P23759-2	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic, 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,
ENST00000713641.1	PAX7-205	6322	438aa	ENSP00000518942.1	Nonsense mediated decay		-	-	-
ENST00000713642.1	PAX7-206	1378	No protein	-	Alternatively spliced transcript of a protein coding gene for which we cannot define a CDS.Protein coding CDS not defined		-	-	-

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Summary

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