Special

HsaEX6069911 @ hg19

Exon Skipping

Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124218473-124221818:+
Coord C1 exon
chr12:124218473-124218555
Coord A exon
chr12:124220078-124220171
Coord C2 exon
chr12:124221606-124221818
Length
94 bp
Sequences
Splice sites
3' ss Seq
GTTCAACTCTTGTCTTCCAGCTA
3' ss Score
7.32
5' ss Seq
ACTGTGAGT
5' ss Score
7.94
Exon sequences
Seq C1 exon
GGGGAAGTCATAAAATGGTATGTCTTTTTAATATCCTTTTGGGGAGAGCAGATTGGCCACAAGGTTAAGAAGATATGTGATTG
Seq A exon
CTACCACTGCCACGTGTACCCCTATCCAAACACAGCCGAGGAGCGGAGGGAGATCCAGGAGGGGCTGAACACCCGCATCCAGGATCTCTACACT
Seq C2 exon
GTACTGCACAAAACCGAGGACTATTTGAGGCAAGTGCTATGTAAAGCCGCCGAGTCTGTCTACAGCCGTGTGATCCAGGTGAAGAAAATGAAGGCCATCTATCACATGCTGAACATGTGCAGCTTTGACGTGACCAACAAGTGCCTCATTGCTGAGGTCTGGTGTCCCGAGGCGGATCTGCAGGACCTGCGCCGGGCACTGGAGGAGGGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344-'7-8,'7-7,8-8=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:
PF0149614=V_ATPase_I=FE(3.3=100)
A:
PF0149614=V_ATPase_I=FE(3.8=100)
C2:
PF0149614=V_ATPase_I=FE(21.3=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTGGGGAGAGCAGATTGGC
R:
TCACGTCAAAGCTGCACATGT
Band lengths:
180-274
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains