HsaEX0007049 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42464893-42503514:-
Coord C1 exon
chr4:42503450-42503514
Coord A exon
chr4:42485496-42485668
Coord C2 exon
chr4:42464893-42465076
Length
173 bp
Sequences
Splice sites
3' ss Seq
TTGCTTGTTTAATATTCCAGGGA
3' ss Score
7.29
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
Exon sequences
Seq C1 exon
GACACTCCTGCAAACTGTTGAAGAAGAACATGGGAATGATTGTTATAAATGAAGGCTCTCTTGAT
Seq A exon
GGAACAAGGGAAACTCTCAGTCGTCACTGTACTACCCTTGGTGATGCTCTCCGGAAAGAGAATGATTTTGCTCTTATAATTGATGGGAAAACCCTCAAATATGCCTTAACCTTTGGAGTACGACAGTATTTCCTGGACTTAGCTTTGTCATGCAAAGCTGTCATTTGCTGTCG
Seq C2 exon
GGTTTCTCCTCTTCAAAAATCTGAAGTTGTTGAGATGGTTAAGAAACAAGTCAAAGTCGTAACGCTTGCAATCGGTGATGGAGCAAATGATGTCAGCATGATACAGACAGCGCACGTTGGTGTTGGTATCAGTGGCAATGAAGGCCTGCAGGCAGCTAATTCCTCTGACTACTCCATAGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX3-2/2=C1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
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(14.6=100)
C2:
PF082827=Hydrolase_3=WD(100=91.9)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACACTCCTGCAAACTGTTGA
R:
TGAGCTATGGAGTAGTCAGAGGA
Band lengths:
248-421
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