Special

HsaEX0007054 @ hg38

Exon Skipping

Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42549013-42552610:-
Coord C1 exon
chr4:42552505-42552610
Coord A exon
chr4:42551198-42551280
Coord C2 exon
chr4:42549013-42549062
Length
83 bp
Sequences
Splice sites
3' ss Seq
TACCTCTTTTTCTAAAACAGATG
3' ss Score
8.25
5' ss Seq
TCAGTAAGT
5' ss Score
9.14
Exon sequences
Seq C1 exon
CCAACTGCACCTATAATATGTGAATTTCTTACAATGATGGCAGTCTGTCACACAGCAGTGCCAGAGCGAGAAGGTGACAAGATTATTTATCAAGCAGCATCTCCAG
Seq A exon
ATGAGGGAGCATTGGTCAGAGCAGCCAAGCAATTGAATTTTGTTTTCACTGGAAGAACACCCGACTCGGTGATTATAGATTCA
Seq C2 exon
CTGGGGCAGGAAGAAAGATATGAATTGCTCAATGTCTTGGAGTTTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406_MULTIEX1-5/7=4-6
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF132461=Hydrolase_like2=PU(21.8=61.1)
A:
PF132461=Hydrolase_like2=FE(26.7=100)
C2:
PF132461=Hydrolase_like2=FE(15.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAACTGCACCTATAATATGTGAAT
R:
TGGTAAACTCCAAGACATTGAGCA
Band lengths:
155-238
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