HsaEX0007047 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42507016-42522299:-
Coord C1 exon
chr4:42522160-42522299
Coord A exon
chr4:42521337-42521566
Coord C2 exon
chr4:42507016-42507154
Length
230 bp
Sequences
Splice sites
3' ss Seq
TAAATGTCCTCATTTTACAGATA
3' ss Score
10
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
Exon sequences
Seq C1 exon
GGTTAAGAACTTTATGTTTTGCTGTGGCTGAGATTTCAGAGAGCGACTTTCAGGAGTGGCGAGCAGTCTATCAGCGAGCATCTACATCTGTGCAGAACAGGCTACTCAAACTCGAAGAGAGTTATGAGTTGATTGAAAAG
Seq A exon
ATAAAGAAACCAAGGCTATTAAGCCAGAAAGTGATGGATACATTATGATCGATGCTGTATAAATAGCAAGAATCTTGCTTCCTTAATTAAGAAAACATTTTTGTGTAGCTCTTGCCGTGTGCCAGGTGCTGTTCATAGCACTTTCATCTATTAATCTAGTCCTCACAACATCCCTTTGAGGTGCTAATTATTCCTGTCTTATAGATGAAGAATCCAAGGTAACAGAGAGG
Seq C2 exon
AATCTTCAGCTACTTGGAGCAACAGCCATTGAGGATAAATTACAAGATCAAGTGCCTGAAACCATAGAAACGCTAATGAAAGCAGACATCAAAATCTGGATCCTTACAGGGGACAAGCAAGAAACTGCCATTAACATCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF127102=HAD=FE(11.8=100)
A:
NO
C2:
PF0070221=Hydrolase=PU(68.7=97.9)
Main Inclusion Isoform:
ENST00000381668fB690
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAAGAACTTTATGTTTTGCTGTGGCT
R:
CGATGTTAATGGCAGTTTCTTGCT
Band lengths:
276-506
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development