Special

HsaEX6084120 @ hg19

Exon Skipping

Gene
ENSG00000124406 | ATP8A1
Description
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:HGNC Symbol;Acc:13531]
Coordinates
chr4:42618050-42627730:-
Coord C1 exon
chr4:42627631-42627730
Coord A exon
chr4:42626553-42626651
Coord C2 exon
chr4:42618050-42618095
Length
99 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTTTTTTCCAAACAGCAA
3' ss Score
10.34
5' ss Seq
ATTGTAAGT
5' ss Score
8.54
Exon sequences
Seq C1 exon
CACTGCAAAATACAACATAATCACATTCCTTCCAAGATTTCTCTACTCTCAGTTCAGAAGAGCTGCTAATTCATTTTTTCTCTTTATTGCACTGCTGCAG
Seq A exon
CAAATACCTGATGTGTCACCAACAGGTCGTTATACAACACTGGTTCCTCTCTTATTTATTTTAGCTGTGGCAGCTATCAAAGAGATAATAGAAGATATT
Seq C2 exon
AAACGACATAAAGCTGATAATGCAGTGAACAAGAAACAAACGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406-'3-5,'3-4,5-5=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.133
Domain overlap (PFAM):

C1:
NO
A:
PF0012215=E1-E2_ATPase=PU(13.3=51.5)
C2:
PF0012215=E1-E2_ATPase=FE(11.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
CACTGCAAAATACAACATAATCACAT
R:
GCGTTTGTTTCTTGTTCACTGCA
Band lengths:
143-242
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains