Special

HsaEX0007062 @ hg38

Exon Skipping

Gene
ENSG00000132932 | ATP8A2
Description
ATPase phospholipid transporting 8A2 [Source:HGNC Symbol;Acc:HGNC:13533]
Coordinates
chr13:25529999-25532317:+
Coord C1 exon
chr13:25529999-25530098
Coord A exon
chr13:25530562-25530660
Coord C2 exon
chr13:25532272-25532317
Length
99 bp
Sequences
Splice sites
3' ss Seq
TGTGGTCTCTTATCTTCCAGCAA
3' ss Score
9.84
5' ss Seq
TTTGTAAGT
5' ss Score
7.4
Exon sequences
Seq C1 exon
TACGGCCAAGTACAGCGTGTTGACATTTCTACCTCGATTCTTGTATGAGCAGATTAGAAGAGCTGCTAATGCCTTCTTTCTCTTCATTGCCTTATTACAG
Seq A exon
CAAATTCCAGATGTATCTCCAACAGGAAGATATACCACCCTGGTGCCATTGATCATTATTTTAACAATTGCAGGCATCAAAGAGATTGTAGAAGATTTT
Seq C2 exon
AAGCGACACAAGGCAGACAATGCAGTTAACAAAAAGAAAACAATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132932_CASSETTE1
Average complexity
S*
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:
NO
A:
PF0012215=E1-E2_ATPase=PU(6.2=51.5)
C2:
PF0012215=E1-E2_ATPase=FE(5.5=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:
GCCAAGTACAGCGTGTTGACA
R:
TTTCTTTTTGTTAACTGCATTGTCTG
Band lengths:
135-234
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development