HsaEX0007048 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42485496-42503514:-
Coord C1 exon
chr4:42503450-42503514
Coord A exon
chr4:42502804-42502824
Coord C2 exon
chr4:42485496-42485668
Length
21 bp
Sequences
Splice sites
3' ss Seq
GAGACTATTTGTTATTTTAGGTG
3' ss Score
6.35
5' ss Seq
GAGGTGATT
5' ss Score
5.41
Exon sequences
Seq C1 exon
GACACTCCTGCAAACTGTTGAAGAAGAACATGGGAATGATTGTTATAAATGAAGGCTCTCTTGAT
Seq A exon
GTGGAAGACAGAGCCGTAGAG
Seq C2 exon
GGAACAAGGGAAACTCTCAGTCGTCACTGTACTACCCTTGGTGATGCTCTCCGGAAAGAGAATGATTTTGCTCTTATAATTGATGGGAAAACCCTCAAATATGCCTTAACCTTTGGAGTACGACAGTATTTCCTGGACTTAGCTTTGTCATGCAAAGCTGTCATTTGCTGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX3-1/2=C1-2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0070221=Hydrolase=PD(29.9=90.9)
A:
PF127102=HAD=FE(1.5=100)
C2:
PF127102=HAD=FE(14.6=100)
Main Inclusion Isoform:
ENST00000381668fB691
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:
GACACTCCTGCAAACTGTTGA
R:
CGGAGAGCATCACCAAGGGTA
Band lengths:
118-139
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