Special

HsaEX6084123 @ hg38

Exon Skipping

Gene
ENSG00000124406 | ATP8A1
Description
ATPase phospholipid transporting 8A1 [Source:HGNC Symbol;Acc:HGNC:13531]
Coordinates
chr4:42581621-42588329:-
Coord C1 exon
chr4:42588260-42588329
Coord A exon
chr4:42586349-42586476
Coord C2 exon
chr4:42581621-42581732
Length
128 bp
Sequences
Splice sites
3' ss Seq
TATTTAAAAATTCCAAACAGGGC
3' ss Score
6.39
5' ss Seq
TGGGTATGT
5' ss Score
7.43
Exon sequences
Seq C1 exon
TGAGCCCCAAGCCATGTGCTACATTGAAACATCCAACTTAGATGGTGAAACAAACTTGAAAATTAGACAG
Seq A exon
GGCTTACCAGCAACATCAGATATCAAAGACGTTGACAGTTTGATGAGGATTTCTGGCAGAATTGAGTGTGAAAGTCCAAACAGACATCTCTACGATTTTGTTGGAAACATAAGGCTTGATGGACATGG
Seq C2 exon
CACCGTTCCACTGGGAGCAGATCAGATTCTTCTTCGAGGAGCTCAGTTGAGAAATACACAGTGGGTTCATGGAATAGTTGTCTACACTGGACATGACACCAAGCTGATGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406-'29-20,'29-17,30-20=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.062 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0012215=E1-E2_ATPase=FE(18.0=100)
A:
PF0012215=E1-E2_ATPase=PD(25.0=74.4)
C2:
PF0012215=E1-E2_ATPase=FE(13.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCCCAAGCCATGTGC
R:
TGCATCAGCTTGGTGTCATGT
Band lengths:
180-308
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains