Special

HsaEX0006964 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40620028-40629760:+
Coord C1 exon
chr17:40620028-40620125
Coord A exon
chr17:40622108-40622236
Coord C2 exon
chr17:40629678-40629760
Length
129 bp
Sequences
Splice sites
3' ss Seq
TATTTTCTTATTTCATCTAGGCC
3' ss Score
8.15
5' ss Seq
GAGGTCAGA
5' ss Score
5.24
Exon sequences
Seq C1 exon
GATTTGTTGAGAAAGAGATAAGAAAAGCTAACATTCCGATTATGGACACCGGTGAAAACCCAGAGGTTCCCTTCCCCCGGGACATGATTGACTTAGAG
Seq A exon
GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG
Seq C2 exon
ATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_MULTIEX1-2/2=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.187 A=0.000 C2=0.207
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(39.0=100),PF0149614=V_ATPase_I=PU(0.1=0.0)
A:
PF0149614=V_ATPase_I=PD(4.7=50.0)
C2:
PF0149614=V_ATPase_I=PD(14.0=42.9),PF0149614=V_ATPase_I=FE(3.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
TTGTTGAGAAAGAGATAAGAAAAGCT
R:
CCAAGTCTTAAAGGAGTGCCTCT
Band lengths:
178-307
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