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AS locus structure map

HIX0016687: Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
Chromosome: X Position: 19362011..19379801 (17.8Kbp) Strand: + Number of RASVs: 6
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
HIX0016687 X-0000564 (rat_rna) low priority
HIX0016687 X-0000098 (chimpanzee_rna)
HIX0016687 X-0000021 (macaque_rna)
HIX0016687 X-0000121 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000191177 PDHA1 312170 fibroblast foreskin Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000293684 PDHA1 312170 Placenta Cot 25-normalized Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).
HIT000283836 PDHA1 312170 Neuroblastoma Cot 10-normalized Similar to Pyruvate dehydrogenase E1 alpha (Fragment).
HIT000469391 PDHA1 312170 Similar to Pyruvate dehydrogenase E1-alpha-subunit (Fragment).
HIT000490965 PDHA1 312170 thalamus Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).
HIT000491081 PDHA1 312170 thalamus Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000030868 PDHA1 312170 Muscle, rhabdomyosarcoma Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000049158 PDHA1 312170 heart Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000192195 PDHA1 312170 liver fetus and adult Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000194959 PDHA1 312170 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000269554 PDHA1 312170 B cells (Ramos cell line) Cot 25-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000283684 PDHA1 312170 Fetal brain Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000284365 PDHA1 312170 Placenta Cot 25-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000288959 PDHA1 312170 Fetal brain Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000293393 PDHA1 312170 T cells (Jurkat cell line) Cot 10-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000294460 PDHA1 312170 Placenta Cot 25-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000295960 PDHA1 312170 T cells (Jurkat cell line) Cot 10-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000303651 PDHA1 312170 Placenta Cot 25-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000305103 PDHA1 312170 Placenta Cot 25-normalized Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000321791 PDHA1 312170 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000321792 PDHA1 312170 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000191162 PDHA1 312170 Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).
HIT000193948 PDHA1 312170 fibroblast skin ten month old male Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).
HIT000330520 PDHA1 312170 dermoid cancer Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000330768 PDHA1 312170 human small intestine Similar to Pyruvate dehydrogenase (Lipoamide) alpha 1 variant (Fragment).
HIT000431129 PDHA1 312170 normal astrocytes (NHA5732) Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial precursor (EC 1.2.4.1) (PDHE1-A type I).
HIT000487874 PDHA1 312170 normal astrocytes (NHA5732) Similar to Pyruvate dehydrogenase E1 alpha subunit (Fragment).

RefSeq
ID Definition
NM_000284 Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, mRNA.

Ensembl
ID Definition
ENST00000422285 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000355808 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000379804 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000379805 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000379806 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000379815 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000417819 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
ENST00000423505 Pyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial Precursor (EC 1.2.4.1)(PDHE1-A type I) [Source:UniProtKB/Swiss-Prot;Acc:P08559]
 
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