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AS locus structure map

HIX0007806: Similar to Development and differentiation enhancing factor 1.
Chromosome: 8 Position: 131064353..131414217 (349.9Kbp) Strand: - Number of RASVs: 3
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
HIX0007806 15-0000109 (mouse_mrna)
HIX0007806 07-0000530 (rat_rna)
HIX0007806 08-0000457 (chimpanzee_rna)
HIX0007806 13-0000131 (dog_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000280893 ASAP1 605953 Placenta Similar to 130 kDa phosphatidylinositol 4,5-biphosphate-dependent ARF1 GTPase- activating protein (PIP2-dependent ARF1 GAP) (ADP-ribosylation factor- directed GTPase-activating protein 1) (ARF GTPase-activating protein 1) (Development and differentiation-enhancing factor 1).
HIT000501100 ASAP1 605953 Brain, cerebellum, PCR rescued clones Development and differentiation enhancing factor 1.
HIT000502902 ASAP1 605953 Brain, cerebellum, PCR rescued clones Similar to Development and differentiation enhancing factor 1.

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition

RefSeq
ID Definition
NM_018482 Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), mRNA.

Ensembl
ID Definition
ENST00000343135 Arf-GAP with SH3 domain, ANK repeat and PH domain- containing protein 1 (130 kDa phosphatidylinositol 4,5- biphosphate-dependent ARF1 GTPase-activating protein)(PIP2-dependent ARF1 GAP)(ADP-ribosylation factor- directed GTPase-activating protein 1)(ARF GTPase- activating protein 1)(Development and differentiation- enhancing factor 1)(Differentiation-enhancing factor 1)(DEF-1) [Source:UniProtKB/Swiss-Prot;Acc:Q9ULH1]
ENST00000357668 Arf-GAP with SH3 domain, ANK repeat and PH domain- containing protein 1 (130 kDa phosphatidylinositol 4,5- biphosphate-dependent ARF1 GTPase-activating protein)(PIP2-dependent ARF1 GAP)(ADP-ribosylation factor- directed GTPase-activating protein 1)(ARF GTPase- activating protein 1)(Development and differentiation- enhancing factor 1)(Differentiation-enhancing factor 1)(DEF-1) [Source:UniProtKB/Swiss-Prot;Acc:Q9ULH1]
 
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