Special

HsaEX0006958 @ hg38

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase H+ transporting V0 subunit a1 [Source:HGNC Symbol;Acc:HGNC:865]
Coordinates
chr17:42470090-42480749:+
Coord C1 exon
chr17:42470090-42470218
Coord A exon
chr17:42477660-42477742
Coord C2 exon
chr17:42480667-42480749
Length
83 bp
Sequences
Splice sites
3' ss Seq
CTGAATTGCATCATCAGCAGATG
3' ss Score
3.09
5' ss Seq
TGGGTAAGT
5' ss Score
10.24
Exon sequences
Seq C1 exon
GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG
Seq A exon
ATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG
Seq C2 exon
GGCGACTACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTCAAGAAAATCTGTGAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_MULTIEX4-5/9=4-8
Average complexity
C3*
Mappability confidence:
98%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.201 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=PD(29.5=93.9)
A:
PF0149614=V_ATPase_I=PD(14.0=42.9),PF0149614=V_ATPase_I=FE(3.9=100)
C2:
PF0149614=V_ATPase_I=FE(13.9=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
ACTGAAGGAAATCAACACAAACCA
R:
CTCTGTTTTTCAGCTGATCGCC
Band lengths:
167-250
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