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AS locus structure map

HIX0016117: Tryptophan-rich protein (Congenital heart disease 5 protein).
Chromosome: 21 Position: 40752213..40786214 (34.0Kbp) Strand: + Number of RASVs: 5
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
HIX0016117 16-0000411 (mouse_mrna)
HIX0016117 16-0000466 (mouse_mrna) low priority
HIX0016117 11-0000128 (rat_rna) low priority
HIX0016117 21-0000105 (chimpanzee_rna)
HIX0016117 21-0000106 (chimpanzee_rna) low priority
HIX0016117 03-0000096 (macaque_rna) low priority
HIX0016117 31-0000105 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000035805 WRB 602915 Ovary, adenocarcinoma Tryptophan-rich protein (Congenital heart disease 5 protein).
HIT000386597 WRB 602915 Brain, primitive neuroectodermal CHD5-like protein family protein.
HIT000429134 WRB 602915 testis Conserved hypothetical protein.
HIT000488490 WRB 602915 cerebellum Similar to Tryptophan-rich protein (Congenital heart disease 5 protein).
HIT000493869 WRB 602915 teratocarcinoma Similar to Tryptophan-rich protein (Congenital heart disease 5 protein).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000297378 WRB 602915 T cells (Jurkat cell line) Cot 10-normalized Tryptophan-rich protein (Congenital heart disease 5 protein).
HIT000425910 WRB 602915 retinoblastoma Tryptophan-rich protein (Congenital heart disease 5 protein).
HIT000325707 WRB 602915 heart embryo CHD5-like protein family protein.
HIT000493768 WRB 602915 teratocarcinoma CHD5-like protein family protein.

RefSeq
ID Definition
NM_004627 Homo sapiens tryptophan rich basic protein (WRB), transcript variant 1, mRNA.
NM_001146218 Homo sapiens tryptophan rich basic protein (WRB), transcript variant 2, mRNA.

Ensembl
ID Definition
ENST00000333781 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000380708 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000380713 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000398753 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000415847 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000417111 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000423352 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000425001 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
ENST00000442773 Tryptophan-rich protein (Congenital heart disease 5 protein) [Source:UniProtKB/Swiss-Prot;Acc:O00258]
 
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