HsaEX0007061 @ hg38
Exon Skipping
Gene
ENSG00000132932 | ATP8A2
Description
ATPase phospholipid transporting 8A2 [Source:HGNC Symbol;Acc:HGNC:13533]
Coordinates
chr13:25372071-25530098:+
Coord C1 exon
chr13:25372071-25372288
Coord A exon
chr13:25468977-25469121
Coord C2 exon
chr13:25529999-25530098
Length
145 bp
Sequences
Splice sites
3' ss Seq
CCTGCGCCCTGTCTCTGCAGGAC
3' ss Score
12.87
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
ACAGGCGCCGGCGGTCCCCGCCAGCTAGCAGCCCGGCGAGGCGCTGGCCCACCCATGGTCCTCGGGCGGCGGCCCCTGCGCCCAGCCCTGCGCGTAGCCTCCGTCTCTCGCCCGGGGCCGCCGAGCCCCCGACACGGGCGAGATGCTGAACGGCGCAGGCCTGGACAAAGCTCTTAAGATGTCCCTGCCGCGGAGGTCGAGGATCCGCTCGTCCGTGG
Seq A exon
GACCTGTTCGTTCTTCTTTGGGCTATAAGAAGGCAGAGGATGAGATGTCCCGGGCCACGTCTGTTGGAGACCAGCTGGAGGCACCCGCCCGCACCATTTACCTCAACCAACCGCATCTCAACAAATTCCGCGACAACCAGATCAG
Seq C2 exon
TACGGCCAAGTACAGCGTGTTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCATTGCCTTATTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132932_MULTIEX2-1/3=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.091 A=0.171 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000381655fB10216
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCACCCATGGTCCTCGGG
R:
AGAAGGCATTAGCAGCTCTTCT
Band lengths:
247-392
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development