Special

HsaEX6039642 @ hg19

Exon Skipping

Gene
ENSG00000132932 | ATP8A2
Description
ATPase, aminophospholipid transporter, class I, type 8A, member 2 [Source:HGNC Symbol;Acc:13533]
Coordinates
chr13:26163773-26343367:+
Coord C1 exon
chr13:26163773-26163837
Coord A exon
chr13:26273311-26273483
Coord C2 exon
chr13:26343184-26343367
Length
173 bp
Sequences
Splice sites
3' ss Seq
CCCCTATACTCTTGTTTCAGGCC
3' ss Score
9.13
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
Exon sequences
Seq C1 exon
GGTATTCCTGCCGATTGGTATCGCAGAATATGGCCCTTATCCTATTGAAGGAGGACTCTTTGGAT
Seq A exon
GCCACAAGGGCAGCCATTACTCAGCACTGCACTGACCTTGGGAATTTGCTGGGCAAGGAAAATGACGTGGCCCTGATCATCGATGGCCACACCCTGAAGTACGCGCTCTCCTTCGAAGTCCGGAGGAGTTTCCTGGATTTGGCACTCTCGTGCAAAGCGGTCATATGCTGCAG
Seq C2 exon
AGTGTCTCCTCTGCAGAAGTCTGAGATAGTGGATGTGGTGAAGAAGCGGGTGAAGGCCATCACCCTCGCCATCGGAGACGGCGCCAACGATGTCGGGATGATCCAGACAGCCCACGTGGGTGTGGGAATCAGTGGGAATGAAGGCATGCAGGCCACCAACAACTCGGATTACGCCATCGCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000132932-'27-33,'27-31,30-33=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=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF127102=HAD=FE(5.2=100)
A:
PF127102=HAD=FE(14.0=100),PF143361=DUF4392=PU(6.1=6.9)
C2:
PF127102=HAD=PD(8.6=56.5),PF143361=DUF4392=FE(92.4=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:
GGTATTCCTGCCGATTGGTATC
R:
CGATGGCGTAATCCGAGTTGT
Band lengths:
244-417
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains