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AS locus structure map

HIX0001648: Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
Chromosome: 1 Position: 227084589..227175246 (90.7Kbp) Strand: + Number of RASVs: 11
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
HIX0001648 01-0000368 (mouse_mrna)
HIX0001648 01-0001924 (chimpanzee_rna)
HIX0001648 01-0001126 (macaque_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000081728 CABC1 612016 mammary gland Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000015361 CABC1 612016 adrenal gland Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000017651 CABC1 612016 small intestine Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000043853 spleen Conserved hypothetical protein.
HIT000046073 CABC1 612016 thymus Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000046339 CABC1 uterus Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000057507 CABC1 612016 small intestine adult Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000246426 CABC1 612016 Skeletal muscle Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000488195 CABC1 612016 cerebellum Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000492359 CABC1 612016 coronary artery smooth muscle cells (HCASMC) Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000495636 CABC1 612016 small intestine Similar to Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000032262 CABC1 612016 Uterus, endometrium adenocarcinoma Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).
HIT000061229 CABC1 612016 Chaperone activity of bc1 complex-like, mitochondrial precursor (Chaperone-ABC1-like) (aarF domain-containing protein kinase 3).

RefSeq
ID Definition
NM_020247 Homo sapiens chaperone, ABC1 activity of bc1 complex homolog (S. pombe) (CABC1), nuclear gene encoding mitochondrial protein, mRNA.

Ensembl
ID Definition
ENST00000366777 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000366779 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000405743 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000366775 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000366776 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000366778 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000407840 Putative uncharacterized protein ENSP00000384284 Fragment [Source:UniProtKB/TrEMBL;Acc:B7WPH8]
ENST00000433743 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000442168 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000446154 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000455944 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
ENST00000458507 Chaperone activity of bc1 complex-like, mitochondrial Precursor (Chaperone-ABC1-like)(aarF domain- containing protein kinase 3) [Source:UniProtKB/Swiss- Prot;Acc:Q8NI60]
 
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