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
Transcript ID | Name | bp | Protein | Translation ID | Biotype | CCDS | UniProt Match | RefSeq | Flags |
---|---|---|---|---|---|---|---|---|---|
ENST00000373344.5 | ATRX-001 | 11167 | 2492aa | ENSP00000362441.4 | Protein coding | CCDS14434 | B4DLE1 P46100 | NM_000489.3 | GENCODE basic, |
ENST00000395603.3 | ATRX-002 | 11031 | 2454aa | ENSP00000378967.3 | Protein coding | CCDS14435 | B4DLE1 P46100 | NM_138270.2 | GENCODE basic, |
ENST00000400866.2 | ATRX-007 | 692 | 160aa | ENSP00000383663.2 | Protein coding | Q5JX93 | - | CDS 5' incomplete, | |
ENST00000373341.1 | ATRX-004 | 589 | 126aa | ENSP00000362438.1 | Protein coding | Q5H9A3 | - | GENCODE basic, | |
ENST00000480283.1 | ATRX-003 | 11268 | No protein | - | Processed transcript | - | - | - | |
ENST00000460639.1 | ATRX-006 | 424 | No protein | - | Processed transcript | - | - | - | |
ENST00000479487.1 | ATRX-008 | 408 | No protein | - | Processed transcript | - | - | - | |
ENST00000493470.1 | ATRX-005 | 341 | No protein | - | Processed transcript | - | - | - |