HsaEX0007046 @ hg19
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:HGNC Symbol;Acc:13531]
Coordinates
chr4:42526780-42551079:-
Coord C1 exon
chr4:42551030-42551079
Coord A exon
chr4:42545934-42546003
Coord C2 exon
chr4:42526780-42526864
Length
70 bp
Sequences
Splice sites
3' ss Seq
GCAAAACCTCTTTCTTTCAGTGC
3' ss Score
6.41
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
CTGGGGCAGGAAGAAAGATATGAATTGCTCAATGTCTTGGAGTTTACCAG
Seq A exon
TGCTAGGAAAAGAATGTCAGTGATTGTTCGCACTCCATCTGGAAAGTTACGACTCTACTGCAAAGGAGCT
Seq C2 exon
GACACTGTAATTTATGATCGACTGGCAGAGACGTCAAAATACAAAGAAATTACCCTAAAACATTTAGAGCAGTTTGCTACAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406-'26-27,'26-25,27-27
Average complexity
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:
PF132461=Hydrolase_like2=FE(15.8=100)
A:
PF132461=Hydrolase_like2=FE(22.8=100)
C2:
PF132461=Hydrolase_like2=PD(9.9=34.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGGCAGGAAGAAAGATATGA
R:
GCAAACTGCTCTAAATGTTTTAGGGT
Band lengths:
127-197
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)