HsaEX1027501 @ hg38
Exon Skipping
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149866170-149868158:-
Coord C1 exon
chr5:149868095-149868158
Coord A exon
chr5:149867725-149867799
Coord C2 exon
chr5:149866170-149866253
Length
75 bp
Sequences
Splice sites
3' ss Seq
TGAGGGTCTGTCTGTTGCAGGTA
3' ss Score
10.06
5' ss Seq
ATTGTGAGT
5' ss Score
7.35
Exon sequences
Seq C1 exon
GGCCATGATGATGACCGCCTGTGATCTCTCAGCCATCACCAAACCCTGGGAGGTGCAGAGCCAG
Seq A exon
GTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATT
Seq C2 exon
CCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915-'46-47,'46-42,48-47
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.026 A=0.140 C2=0.211
Domain overlap (PFAM):
C1:
PF0023314=PDEase_I=FE(11.6=100)
A:
PF0023314=PDEase_I=FE(11.1=100)
C2:
PF0023314=PDEase_I=FE(10.8=100)
Main Skipping Isoform:
ENST00000255266fB22229
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCATGATGATGACCGCCTGTG
R:
CTTGTAGACGAAGGTGCAAACA
Band lengths:
146-221
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains