HsaEX6100564 @ hg38
Exon Skipping
Gene
ENSG00000132915 | PDE6A
Description
phosphodiesterase 6A [Source:HGNC Symbol;Acc:HGNC:8785]
Coordinates
chr5:149931028-149944793:-
Coord C1 exon
chr5:149944200-149944793
Coord A exon
chr5:149934566-149934718
Coord C2 exon
chr5:149931028-149931168
Length
153 bp
Sequences
Splice sites
3' ss Seq
TTATCTCTGCCTTCCTTTAGGAT
3' ss Score
12.39
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
Exon sequences
Seq C1 exon
CAGAGTAGCCAGTGGGATTCCCAGCCATGGGCGAGGTGACAGCAGAGGAGGTGGAGAAGTTCCTGGACTCGAATATTGGCTTTGCCAAACAGTACTACAACCTCCACTACCGGGCCAAGCTCATCTCCGACCTCCTTGGGGCCAAGGAGGCTGCCGTGGACTTCAGCAACTACCACTCCCCGAGCAGCATGGAGGAGAGCGAAATCATCTTTGATCTCCTGCGGGACTTTCAGGAGAATTTACAGACAGAGAAATGCATCTTCAATGTCATGAAGAAGCTGTGCTTCCTCCTGCAGGCAGACCGCATGAGCCTGTTCATGTACCGGACCCGCAATGGCATCGCAGAGCTGGCCACCAGGCTTTTCAATGTCCACAAGGATGCTGTCCTCGAGGACTGCCTGGTGATGCCCGACCAAGAGATCGTCTTCCCTTTGGACATGGGCATCGTGGGCCATGTCGCACACTCTAAGAAGATTGCTAACGTCCCCAACACAGAGGAG
Seq A exon
GATGAGCATTTCTGTGACTTTGTGGACATCCTCACAGAGTACAAGACCAAGAACATCTTGGCTTCCCCCATAATGAATGGGAAGGATGTGGTGGCCATAATCATGGCTGTGAATAAAGTGGATGGATCCCACTTCACCAAGAGAGATGAAGAG
Seq C2 exon
ATACTGCTGTGGTCTGGGAGCAAAGTCTTTGAAGAACTTACGGACATCGAACGACAGTTCCACAAAGCCCTGTACACAGTCCGTGCTTTCCTCAACTGTGACAGATACTCTGTGGGTCTCTTAGACATGACCAAGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132915_MULTIEX1-1/4=C1-4
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0159021=GAF=PU(56.7=53.8)
A:
PF0159021=GAF=FE(33.3=100)
C2:
PF0159021=GAF=PD(6.5=12.8),PF0159021=GAF=PU(18.0=68.1)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGCCTGTTCATGTACCGGA
R:
GAACTGTCGTTCGATGTCCGT
Band lengths:
254-407
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains