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AS locus structure map

HIX0014256: Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
Chromosome: 17 Position: 79801034..79818544 (17.5Kbp) Strand: - Number of RASVs: 4
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
HIX0014256 17-0000892 (chimpanzee_rna)
HIX0014256 16-0000296 (macaque_rna)
HIX0014256 09-0000202 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000285079 P4HB 176790 Placenta Cot 25-normalized Similar to Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000040847 P4HB 176790 Colon, adenocarcinoma Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000492591 P4HB 176790 dermal papilla cells (HDPC) Similar to Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000491705 P4HB 176790 cord blood Similar to Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000020793 P4HB 176790 heart Similar to Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000059909 P4HB 176790 colon adenocarcinoma Similar to Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000035078 P4HB 176790 Lung, large cell carcinoma Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000264703 P4HB 176790 Skin, melanoma, amelanotic Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000299423 P4HB 176790 Placenta Cot 25-normalized Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000191088 P4HB 176790 Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).
HIT000321117 P4HB 176790 Protein disulfide-isomerase precursor (EC 5.3.4.1) (PDI) (Prolyl 4- hydroxylase subunit beta) (Cellular thyroid hormone-binding protein) (p55).

RefSeq
ID Definition
NM_000918 Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.

Ensembl
ID Definition
ENST00000331483 Protein disulfide-isomerase Precursor (PDI)(EC 5.3.4.1)(Prolyl 4-hydroxylase subunit beta)(Cellular thyroid hormone-binding protein)(p55) [Source:UniProtKB/Swiss-Prot;Acc:P07237]
ENST00000415593 Protein disulfide-isomerase Precursor (PDI)(EC 5.3.4.1)(Prolyl 4-hydroxylase subunit beta)(Cellular thyroid hormone-binding protein)(p55) [Source:UniProtKB/Swiss-Prot;Acc:P07237]
ENST00000436463 Protein disulfide-isomerase Precursor (PDI)(EC 5.3.4.1)(Prolyl 4-hydroxylase subunit beta)(Cellular thyroid hormone-binding protein)(p55) [Source:UniProtKB/Swiss-Prot;Acc:P07237]
ENST00000439918 Protein disulfide-isomerase Precursor (PDI)(EC 5.3.4.1)(Prolyl 4-hydroxylase subunit beta)(Cellular thyroid hormone-binding protein)(p55) [Source:UniProtKB/Swiss-Prot;Acc:P07237]
ENST00000450722 Protein disulfide-isomerase Precursor (PDI)(EC 5.3.4.1)(Prolyl 4-hydroxylase subunit beta)(Cellular thyroid hormone-binding protein)(p55) [Source:UniProtKB/Swiss-Prot;Acc:P07237]
 
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