HsaEX6100574 @ hg38
Exon Skipping
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149886265-149899524:-
Coord C1 exon
chr5:149899375-149899524
Coord A exon
chr5:149896356-149896502
Coord C2 exon
chr5:149886265-149886374
Length
147 bp
Sequences
Splice sites
3' ss Seq
TGACTCTATTCCTTATACAGCAA
3' ss Score
7.37
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
AAAGAACCTCTGGATGAGTCTGGATGGATGATTAAAAATGTGCTTTCAATGCCGATTGTGAACAAGAAGGAAGAAATTGTTGGAGTGGCCACATTTTACAATCGTAAAGATGGGAAGCCCTTTGATGAAATGGATGAGACGCTCATGGAG
Seq A exon
CAAGCGGAGCTGCCAGATGCAGATAAATACGAAATTAATAAATTTCACTTCAGTGACTTACCCCTAACAGAACTGGAGCTGGTAAAATGTGGAATACAGATGTATTATGAGCTCAAAGTGGTGGATAAATTTCACATTCCACAAGAG
Seq C2 exon
ACGGGAAAGCTGAAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGACATTGACCACAGAGGCACCAATAACCTCTACCAGATGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915_MULTIEX2-3/5=C1-5
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0159021=GAF=FE(27.5=100)
A:
NO
C2:
PF0023314=PDEase_I=FE(14.5=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCTGGATGAGTCTGGATGG
R:
GGTTATTGGTGCCTCTGTGGT
Band lengths:
242-389
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains