Special

HsaEX6100576 @ hg19

Exon Skipping

Gene
Description
phosphodiesterase 6A, cGMP-specific, rod, alpha [Source:HGNC Symbol;Acc:8785]
Coordinates
chr5:149264343-149274853:-
Coord C1 exon
chr5:149274746-149274853
Coord A exon
chr5:149265828-149265937
Coord C2 exon
chr5:149264343-149264430
Length
110 bp
Sequences
Splice sites
3' ss Seq
CACTCTGATTGCCCTTCCAGACG
3' ss Score
8.17
5' ss Seq
GAAGTGAGT
5' ss Score
7.97
Exon sequences
Seq C1 exon
GCCCTGGTGCGGTTCATGTACTCCCTGAGTAAGGGCTACCGCAAGATCACCTACCACAACTGGCGGCACGGCTTCAACGTGGGGCAGACCATGTTCTCCCTGCTGGTG
Seq A exon
ACGGGAAAGCTGAAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGACATTGACCACAGAGGCACCAATAACCTCTACCAGATGAA
Seq C2 exon
ATCCCAGAACCCACTGGCCAAGCTCCATGGGTCCTCTATCTTGGAAAGACACCACTTGGAGTTTGGCAAAACACTGCTCAGAGACGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915-'12-13,'12-12,13-13=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=0.000
Domain overlap (PFAM):

C1:
PF0023314=PDEase_I=PU(7.2=50.0)
A:
PF0023314=PDEase_I=FE(14.5=100)
C2:
PF0023314=PDEase_I=FE(11.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCTGGTGCGGTTCATGTAC
R:
TCGTCTCTGAGCAGTGTTTTGC
Band lengths:
194-304
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains