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AS locus structure map

HIX0203296: Erythroid transcription factor (GATA-binding factor 1) (GATA-1) (Eryf1) (GF-1) (NF-E1 DNA-binding protein).
Chromosome: X Position: 48644962..48652718 (7.8Kbp) Strand: + Number of RASVs: 2
ORF: Full-length Truncated NMD UTR
Splice-site: GT-AG GC-AG AT-AC Other NAGNAG
AS: AS exon AS junction Polymorphism: SNP

Locus and transcript information


AS locus
Hyperlink management Corresponding other species locus

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000321608 GATA1 314050 bone marrow Erythroid transcription factor (GATA-binding factor 1) (GATA-1) (Eryf1) (GF-1) (NF-E1 DNA-binding protein).
HIT000034585 GATA1 314050 Bone marrow, chronic myelogenous leukemia Similar to Erythroid transcription factor (GATA-binding factor 1) (GATA-1) (Eryf1) (GF-1) (NF-E1 DNA-binding protein).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000195374 GATA1 314050 Erythroid transcription factor (GATA-binding factor 1) (GATA-1) (Eryf1) (GF-1) (NF-E1 DNA-binding protein).

RefSeq
ID Definition
NM_002049 Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.

Ensembl
ID Definition
ENST00000376670 Erythroid transcription factor (Eryf1)(GATA-binding factor 1)(GATA-1)(GF-1)(NF-E1 DNA-binding protein) [Source:UniProtKB/Swiss-Prot;Acc:P15976]
ENST00000376665 Erythroid transcription factor (Eryf1)(GATA-binding factor 1)(GATA-1)(GF-1)(NF-E1 DNA-binding protein) [Source:UniProtKB/Swiss-Prot;Acc:P15976]
ENST00000433021 Erythroid transcription factor (Eryf1)(GATA-binding factor 1)(GATA-1)(GF-1)(NF-E1 DNA-binding protein) [Source:UniProtKB/Swiss-Prot;Acc:P15976]
ENST00000447551 Erythroid transcription factor (Eryf1)(GATA-binding factor 1)(GATA-1)(GF-1)(NF-E1 DNA-binding protein) [Source:UniProtKB/Swiss-Prot;Acc:P15976]
 
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