HsaEX0007058 @ hg38
Exon Skipping
Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42552505-42574707:-
Coord C1 exon
chr4:42574619-42574707
Coord A exon
chr4:42555968-42556040
Coord C2 exon
chr4:42552505-42552610
Length
73 bp
Sequences
Splice sites
3' ss Seq
CTATTTTTTACCCCCTTCAGGCA
3' ss Score
8.4
5' ss Seq
CATGTAAGT
5' ss Score
8.31
Exon sequences
Seq C1 exon
GTTAAATACATATTTTCTGACAAAACTGGTACTCTGACATGCAATGTAATGCAGTTTAAGAAGTGCACCATAGCGGGAGTTGCTTATGG
Seq A exon
GCAGAACTCACAGTTTGGAGATGAAAAAACATTTAGTGATTCATCATTGCTGGAAAATCTCCAAAATAATCAT
Seq C2 exon
CCAACTGCACCTATAATATGTGAATTTCTTACAATGATGGCAGTCTGTCACACAGCAGTGCCAGAGCGAGAAGGTGACAAGATTATTTATCAAGCAGCATCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX1-3/7=1-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.143 C2=0.000
Domain overlap (PFAM):
C1:
PF127102=HAD=PU(6.7=86.7)
A:
PF127102=HAD=FE(6.2=100)
C2:
PF132461=Hydrolase_like2=PU(21.8=61.1)
Main Skipping Isoform:
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:
CTGGAGATGCTGCTTGATAAATAA
Band lengths:
176-249
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development