HsaEX0007057 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42555968-42574707:-
Coord C1 exon
chr4:42574619-42574707
Coord A exon
chr4:42569161-42569205
Coord C2 exon
chr4:42555968-42556040
Length
45 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCTTGCTTTCTGAAGCCA
3' ss Score
6.47
5' ss Seq
ATGGTAAGC
5' ss Score
9.26
Exon sequences
Seq C1 exon
GTTAAATACATATTTTCTGACAAAACTGGTACTCTGACATGCAATGTAATGCAGTTTAAGAAGTGCACCATAGCGGGAGTTGCTTATGG
Seq A exon
CCATGTCCCTGAACCTGAGGATTATGGCTGCTCTCCTGATGAATG
Seq C2 exon
GCAGAACTCACAGTTTGGAGATGAAAAAACATTTAGTGATTCATCATTGCTGGAAAATCTCCAAAATAATCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX1-2/7=1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.312 C2=0.143
Domain overlap (PFAM):
C1:
PF127102=HAD=PU(6.7=86.7)
A:
PF127102=HAD=FE(3.7=100)
C2:
PF127102=HAD=FE(6.2=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAAAACTGGTACTCTGACATGCA
R:
GGAGATTTTCCAGCAATGATGAA
Band lengths:
132-177
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