Gene: ATRX ENSG00000085224

Description

alpha thalassemia/mental retardation syndrome X-linked [Source:HGNC Symbol;Acc:886]

Gene Synonyms

ATR2, JMS, MRXHF1, RAD54, RAD54L, SFM1, SHS, XH2, XNP, ZNF-HX

Location

Chromosome X: 76,760,356-77,041,702 reverse strand.

GRCh37:CM000685.1

View alleles of this gene on alternative sequences

About this gene

This gene has 8 transcripts (splice variants), 1 gene allele, 3 paralogues and is associated with 109 phenotypes.

Transcripts

Show transcript tableHide transcript table

Transcript ID	Name	bp	Protein	Translation ID	Biotype	CCDS	UniProt Match	RefSeq	Flags
ENST00000373344.5	ATRX-001	11167	2492aa	ENSP00000362441.4	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14434	B4DLE1 P46100	NM_000489.3	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,
ENST00000395603.3	ATRX-002	11031	2454aa	ENSP00000378967.3	Gene/transcipt that contains an open reading frame (ORF).Protein coding	CCDS14435	B4DLE1 P46100	NM_138270.2	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000400866.2	ATRX-007	692	160aa	ENSP00000383663.2	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5JX93	-	5' truncation in transcript evidence prevents annotation of the start of the CDS.CDS 5' incomplete,
ENST00000373341.1	ATRX-004	589	126aa	ENSP00000362438.1	Gene/transcipt that contains an open reading frame (ORF).Protein coding		Q5H9A3	-	The GENCODE set is the gene set for human and mouse. GENCODE Basic is a subset of representative transcripts (splice variants).GENCODE basic,
ENST00000480283.1	ATRX-003	11268	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000460639.1	ATRX-006	424	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000479487.1	ATRX-008	408	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-
ENST00000493470.1	ATRX-005	341	No protein	-	Gene/transcript that doesn't contain an open reading frame (ORF).Processed transcript		-	-	-

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Gene: ATRX ENSG00000085224

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Gene: ATRX ENSG00000085224

Summary