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AS locus structure map

HIX0005253: Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1).
Chromosome: 5 Position: 140894583..140998622 (104.0Kbp) 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
HIX0005253 18-0000255 (mouse_mrna)
HIX0005253 18-0000477 (rat_rna)

RASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000387547 DIAPH1 602121 Lung and heart, PCR rescued clones Similar to Diaphanous-1 (Fragment).
HIT000019119 DIAPH1 602121 cerebellum Similar to Diaphanous 1 isoform 2.
HIT000501869 DIAPH1 602121 Lung and heart, PCR rescued clones Similar to Diaphanous-1 (Fragment).

Other ASV
Hyperlink management HUGO OMIM Cell type Tissue type Development stage Sex Definition
HIT000329417 DIAPH1 602121 brain Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1).
HIT000501868 DIAPH1 602121 Lung and heart, PCR rescued clones Protein diaphanous homolog 1 (Diaphanous-related formin-1) (DRF1).
HIT000033200 DIAPH1 602121 Skin, melanotic melanoma. Similar to Diaphanous 1 isoform 2.
HIT000064266 DIAPH1 602121 Diaphanous 1 isoform 2.
HIT000253208 DIAPH1 602121 Similar to Diaphanous-1 (Fragment).
HIT000391713 DIAPH1 602121 lung Diaphanous-1.

RefSeq
ID Definition
NM_005219 Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.
NM_001079812 Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 2, mRNA.

Ensembl
ID Definition
ENST00000389057 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000398557 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000253811 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000389054 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000398562 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000398566 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
ENST00000448451 Protein diaphanous homolog 1 (Diaphanous-related formin-1)(DRF1) [Source:UniProtKB/Swiss-Prot;Acc:O60610]
 
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