HsaEX0007060 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42588260-42600518:-
Coord C1 exon
chr4:42600478-42600518
Coord A exon
chr4:42590811-42590884
Coord C2 exon
chr4:42588260-42588329
Length
74 bp
Sequences
Splice sites
3' ss Seq
TTTTATACTGGGACGTGTAGGTG
3' ss Score
2.77
5' ss Seq
AAGGTTAGA
5' ss Score
6.12
Exon sequences
Seq C1 exon
TTTTGAGAAATGGTGCTTGGGAAATTGTCCACTGGGAAAAG
Seq A exon
GTGGCAGTAGGGGAGATAGTGAAAGTGACCAATGGGGAACATCTCCCAGCAGATCTCATCAGTCTGTCCTCAAG
Seq C2 exon
TGAGCCCCAAGCCATGTGCTACATTGAAACATCCAACTTAGATGGTGAAACAAACTTGAAAATTAGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX5-2/2=C1-C2
Average complexity
ME(1-2[98=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.040 A=0.000 C2=0.062
Domain overlap (PFAM):
C1:
PF0012215=E1-E2_ATPase=FE(10.2=100)
A:
PF0012215=E1-E2_ATPase=FE(18.8=100)
C2:
PF0012215=E1-E2_ATPase=FE(18.0=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGAGAAATGGTGCTTGGGAAA
R:
GTCTAATTTTCAAGTTTGTTTCACCA
Band lengths:
106-180
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