Special

HsaEX0006958 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40622108-40630607:+
Coord C1 exon
chr17:40622108-40622236
Coord A exon
chr17:40629657-40629760
Coord C2 exon
chr17:40630481-40630607
Length
104 bp
Sequences
Splice sites
3' ss Seq
TAATTGATTTGTGAATTCAGGCT
3' ss Score
2.8
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG
Seq A exon
GCTGAATTGCATCATCAGCAGATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG
Seq C2 exon
CTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-'4-6,'4-4,5-6
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=0.237 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=PD(29.5=93.9)
A:
PF0149614=V_ATPase_I=FE(4.2=100)
C2:
PF0149614=V_ATPase_I=FE(21.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
GCCAATTTTGAGAAGATTGAAAATGA
R:
TCCAGGGGGTTCTCGATTTCA
Band lengths:
243-347
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