Summary
- Splice variants
- Transcript comparison
- Gene alleles
Sequence
- Secondary Structure
Comparative Genomics
- Genomic alignments
- Gene tree
- Gene gain/loss tree
- Orthologues
- Paralogues
Ontologies
- GO: Anatomical entity
Phenotypes
Genetic Variation
Gene expression
Pathway
Molecular interactions
Regulation
External references
Supporting evidence
ID History
- Gene history

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Gene: PEX12 ENSG00000108733

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Description

peroxisomal biogenesis factor 12 [Source:HGNC Symbol;Acc:HGNC:8854]

Location

Chromosome 17: 35,574,795-35,578,863 reverse strand.

GRCh38:CM000679.2

About this gene

This gene has 3 transcripts (splice variants), 195 orthologues and is associated with 7 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq Match	Flags
ENST00000225873.9	PEX12-201	2617	359aa	ENSP00000225873.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS11296	O00623	NM_000286.3	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, GENCODE Primary represents a minimal set that contains MANE Select, MANE Plus Clinical and Ensembl Canonical transcripts and transcripts containing any conserved exons and common alternative splicing events (including exons skips) that are absent from the MANE and Ensembl Canonical transcripts for protein-coding genes. Other biotypes will have the GENCODE Primary flag added to the Ensembl Canonical transcript and for lncRNA genes only this will be the transcripts with the longest genomic span.GENCODE Primary, A subset of the GENCODE transcript set, containing only 5' and 3' complete transcripts at protein-coding genes.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,
ENST00000585380.1	PEX12-202	897	221aa	ENSP00000466280.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		K7ELY8	-	TSL 4: A transcript where the best supporting EST is flagged as suspect 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:4, 3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000586663.2	PEX12-203	1604	357aa	ENSP00000466894.2	Non stop decay		A0A075B773	-	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,

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Summary

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