HsaEX6100578 @ hg38
Exon Skipping
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149883429-149884867:-
Coord C1 exon
chr5:149884780-149884867
Coord A exon
chr5:149884479-149884579
Coord C2 exon
chr5:149883429-149883536
Length
101 bp
Sequences
Splice sites
3' ss Seq
GCTTCTCTTTTTTTCTTTAGAGC
3' ss Score
9.71
5' ss Seq
CAAGTTGGT
5' ss Score
2.11
Exon sequences
Seq C1 exon
ATCCCAGAACCCACTGGCCAAGCTCCATGGGTCCTCTATCTTGGAAAGACACCACTTGGAGTTTGGCAAAACACTGCTCAGAGACGAG
Seq A exon
AGCCTGAATATCTTTCAAAACCTCAATCGTCGACAGCATGAGCATGCCATCCACATGATGGACATTGCAATCATTGCCACAGACCTCGCCCTGTATTTCAA
Seq C2 exon
GAAGAGGACGATGTTCCAAAAGATCGTGGATCAGTCTAAGACATATGAGAGTGAACAGGAGTGGACACAGTACATGATGCTGGAGCAGACACGGAAGGAAATCGTTAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915-'40-33,'40-32,41-33=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.004
Domain overlap (PFAM):
C1:
PF0023314=PDEase_I=FE(11.6=100)
A:
PF0023314=PDEase_I=FE(13.3=100)
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:
GAACCCACTGGCCAAGCTC
R:
ACGATTTCCTTCCGTGTCTGC
Band lengths:
187-288
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains