HsaEX0007044 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42581621-42586476:-
Coord C1 exon
chr4:42586349-42586476
Coord A exon
chr4:42583808-42583881
Coord C2 exon
chr4:42581621-42581732
Length
74 bp
Sequences
Splice sites
3' ss Seq
CAGCTTCCATGTCTTAACAGTTT
3' ss Score
7.39
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
GGCTTACCAGCAACATCAGATATCAAAGACGTTGACAGTTTGATGAGGATTTCTGGCAGAATTGAGTGTGAAAGTCCAAACAGACATCTCTACGATTTTGTTGGAAACATAAGGCTTGATGGACATGG
Seq A exon
TTTTCTGTCAAATTGTTGCTGAGCAAATCTATGCTGTGAAGGAGAAACTTTGTATGATGGTGCCAAGATTCAAG
Seq C2 exon
CACCGTTCCACTGGGAGCAGATCAGATTCTTCTTCGAGGAGCTCAGTTGAGAAATACACAGTGGGTTCATGGAATAGTTGTCTACACTGGACATGACACCAAGCTGATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_CASSETTE4
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0012215=E1-E2_ATPase=PD(25.0=74.4)
A:
NO
C2:
PF0012215=E1-E2_ATPase=FE(13.6=100)
Main Inclusion Isoform:
ENST00000381668fB689
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:
GGCAGAATTGAGTGTGAAAGTCC
R:
GCTTGGTGTCATGTCCAGTGT
Band lengths:
178-252
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