Special

HsaEX6100573 @ hg38

Exon Skipping

Gene
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149886265-149899524:-
Coord C1 exon
chr5:149899375-149899524
Coord A exon
chr5:149896711-149896776
Coord C2 exon
chr5:149886265-149886374
Length
66 bp
Sequences
Splice sites
3' ss Seq
GCCATTTTGGGTCCTGGCAGAAA
3' ss Score
6.56
5' ss Seq
CTGGTGAGC
5' ss Score
8.05
Exon sequences
Seq C1 exon
AAAGAACCTCTGGATGAGTCTGGATGGATGATTAAAAATGTGCTTTCAATGCCGATTGTGAACAAGAAGGAAGAAATTGTTGGAGTGGCCACATTTTACAATCGTAAAGATGGGAAGCCCTTTGATGAAATGGATGAGACGCTCATGGAG
Seq A exon
AAAACCAGAGAGGTGTATGGGAAGGAGCCATGGGAGTGTGAGGAAGAGGAGCTGGCTGAGATCCTG
Seq C2 exon
ACGGGAAAGCTGAAGCGCTACTTCACGGACCTAGAGGCCTTGGCCATGGTCACTGCTGCTTTCTGCCATGACATTGACCACAGAGGCACCAATAACCTCTACCAGATGAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915_MULTIEX2-2/5=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 Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACCTCTGGATGAGTCTGGATGG
R:
AAGTAGCGCTTCAGCTTTCCC
Band lengths:
168-234
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains