HsaEX0007049 @ hg19
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:HGNC Symbol;Acc:13531]
Coordinates
chr4:42466910-42505531:-
Coord C1 exon
chr4:42505467-42505531
Coord A exon
chr4:42487513-42487685
Coord C2 exon
chr4:42466910-42467093
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-'34-36,'34-34,36-36
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
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)