Special

HsaEX6084119 @ hg19

Exon Skipping

Gene
ENSG00000124406 | ATP8A1
Description
ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 [Source:HGNC Symbol;Acc:13531]
Coordinates
chr4:42627631-42659122:-
Coord C1 exon
chr4:42658842-42659122
Coord A exon
chr4:42629012-42629126
Coord C2 exon
chr4:42627631-42627730
Length
115 bp
Sequences
Splice sites
3' ss Seq
TAAGAAGATCTCTTTTTAAGGTT
3' ss Score
4.81
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
Exon sequences
Seq C1 exon
AAGAGCTCGCCCAGCTCTGCGGGCGCCGCCACCTTCGCCGCCACCGCTGCCTTTCTCCTCCTCCTGTCGGCGTGCGGGGGCCGCGCCCGGCGGCAGCTCTGCCCTAGGTGGGCGGCGGCGCGGCCCAGGCTGCAGCTGAGCGCTCTGCGCGGCGCAGCCGGGTCTCCCGCGTGTACCACGCCGTGACAGGTGCAGAGTCCGGGCTGAGGACCCACCTGCAGCCGCCGCCGCGATGCCCACCATGCGGAGGACCGTGTCGGAGATCCGCTCGCGCGCCGAAG
Seq A exon
GTTATGAGAAGACAGATGATGTTTCAGAGAAGACCTCACTGGCTGACCAGGAGGAAGTAAGGACTATTTTCATCAACCAGCCCCAGCTGACAAAATTCTGCAATAACCATGTCAG
Seq C2 exon
CACTGCAAAATACAACATAATCACATTCCTTCCAAGATTTCTCTACTCTCAGTTCAGAAGAGCTGCTAATTCATTTTTTCTCTTTATTGCACTGCTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000124406-'0-3,'0-2,2-3=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=0.294 A=0.090 C2=0.000
Domain overlap (PFAM):

C1:
PF0206410=MAS20=PU(30.8=94.1)
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
Zebrafish
(danRer10)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTCTGCCCTAGGTGG
R:
GCAGCTCTTCTGAACTGAGAGT
Band lengths:
254-369
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains