Gene: PITX1 ENSG00000069011

Description

paired-like homeodomain 1 [Source:HGNC Symbol;Acc:9004]

Gene Synonyms

BFT, CCF, LBNBG, POTX, PTX1

Location

Chromosome 5: 134,363,425-134,370,503 reverse strand.

GRCh37:CM000667.1

About this gene

This gene has 6 transcripts (splice variants), 14 paralogues and is associated with 10 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000265340.7	PITX1-001	2406	314aa	ENSP00000265340.6	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4182	D6R955 D6R9U1 P78337	NM_002653.4	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, The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000506438.1	PITX1-002	1305	314aa	ENSP00000427542.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS4182	D6R955 D6R9U1 P78337	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000502676.1	PITX1-003	666	114aa	ENSP00000423624.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R955	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000503586.1	PITX1-005	624	208aa	ENSP00000451199.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		-	-	5' and 3' truncations in transcript evidence prevent annotation of the start and the end of the CDS.CDS 5' and 3' incomplete,
ENST00000507253.1	PITX1-004	587	130aa	ENSP00000422908.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		D6R955 D6R9U1	-	3' truncation in transcript evidence prevents annotation of the end of the CDS.CDS 3' incomplete,
ENST00000504936.1	PITX1-006	770	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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Gene: PITX1 ENSG00000069011

Summary

EMBL-EBI User Survey 2024

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Gene: PITX1 ENSG00000069011

Summary