HsaEX1027502 @ hg38
Exon Skipping
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149866170-149867799:-
Coord C1 exon
chr5:149867725-149867799
Coord A exon
chr5:149867174-149867226
Coord C2 exon
chr5:149866170-149866253
Length
53 bp
Sequences
Splice sites
3' ss Seq
GGAGATGCGCAGTTGGGGAGATC
3' ss Score
-17.94
5' ss Seq
GAAGTAAAG
5' ss Score
0.82
Exon sequences
Seq C1 exon
GTAGCTCTGCTGGTGGCTGCTGAATTCTGGGAACAAGGTGACCTGGAGCGCACGGTGCTGCAACAGAATCCCATT
Seq A exon
ATCGGAAGAGCAGCCCGAAGTTTCCCTGAAGTCCCTGAAGGCAAAGCTGGGAA
Seq C2 exon
CCCATGATGGACAGAAACAAAGCAGATGAACTCCCTAAGCTTCAAGTCGGCTTCATTGACTTTGTTTGCACCTTCGTCTACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915-'48-47,'48-46,49-47
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.140 A=0.500 C2=0.211
Domain overlap (PFAM):
C1:
PF0023314=PDEase_I=FE(11.1=100)
A:
PF0023314=PDEase_I=PD(6.5=77.8)
C2:
PF0023314=PDEase_I=FE(10.8=100)
Main Inclusion Isoform:
ENST00000255266fB22226
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCTGCTGAATTCTGGGAAC
R:
TGCAAACAAAGTCAATGAAGCCG
Band lengths:
132-185
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains