Special

HsaEX0006963 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40618447-40622236:+
Coord C1 exon
chr17:40618447-40618546
Coord A exon
chr17:40620028-40620125
Coord C2 exon
chr17:40622108-40622236
Length
98 bp
Sequences
Splice sites
3' ss Seq
TTTTGATTCTGTCATTTTAGGAT
3' ss Score
9.5
5' ss Seq
GAGGTAAAC
5' ss Score
7.2
Exon sequences
Seq C1 exon
TTAAATCCAGATGTGAATGTTTTCCAACGGAAATTTGTGAATGAAGTTAGAAGATGTGAAGAAATGGATCGAAAGCTTCGTATGTGCACTTTGGTCTTGT
Seq A exon
GATTTGTTGAGAAAGAGATAAGAAAAGCTAACATTCCGATTATGGACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAG
Seq C2 exon
GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.187 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(31.7=100)
A:
PF0149614=V_ATPase_I=FE(39.0=100),PF0149614=V_ATPase_I=PU(0.1=0.0)
C2:
PF0149614=V_ATPase_I=PD(29.5=93.9)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGATGTGAATGTTTTCCAACGG
R:
TCGGTCAGTTCCAGGAAGTTT
Band lengths:
180-278
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development