Special

HsaEX0006956 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40666307-40673503:+
Coord C1 exon
chr17:40666307-40666478
Coord A exon
chr17:40668790-40668915
Coord C2 exon
chr17:40673045-40673503
Length
126 bp
Sequences
Splice sites
3' ss Seq
GCCTCCCCGTGTCTTCCCAGGTC
3' ss Score
10.48
5' ss Seq
ACTGTGAGC
5' ss Score
4.2
Exon sequences
Seq C1 exon
AGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTG
Seq A exon
GTCCCCCTGAACTGAAGTGATGAGTGGCAGGACAGCAGGCTCCGGAATTGGGCGACCTGGGTTGGAATTCCAGCACTGTCACACCAGGCAGGGAACCTGAGCAGAACATTCACTGCCAAGATTACT
Seq C2 exon
GGTTGAGTTCCAGAATAAATTCTACAGCGGGACCGGTTTCAAGTTCTTACCCTTCTCCTTCGAGCATATTCGGGAAGGGAAGTTTGAAGAGTGAGTCCCTGTGAGGGCCGTGTGCCCCATGCTACCCTCCCCGCCTCCCTCCACAGTGATCAGCTGTGCCTCTCTGCCTGTTGGTTGTGATCTGTGGGCACCAGCTCATTCGTGTCACCCTGTCTGTGAGTCATTTAGATAGAATAGTCCTCCTTGGGTCTCCCACCACCCCTAGCTTTGTGTGTAGTGTAGTGATTTTCTGGCTGTCACTCATACTCACTGGGCACCAGCCTTGCCCTCTTAGCCTCCATCCATCCAGACAGCCCTTCCCACCTCCTGGTGGTGAGCCAGTCTGCATTCCCACGCCATCCCAAAGCCCTTTCATCTTCCCCGTGCATTGTAGATGGAAGGAGCACCCATGCCATTCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-'23-29,'23-26,25-29
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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(12.0=100)
A:
PF0149614=V_ATPase_I=PD(0.1=25.0)
C2:
PF0149614=V_ATPase_I=PD(13.4=68.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCTCCTGATCATGGAGGGC
R:
GCCCACAGATCACAACCAACA
Band lengths:
245-371
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development