Special

HsaEX0006966 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40659538-40665996:+
Coord C1 exon
chr17:40659538-40659645
Coord A exon
chr17:40660590-40660607
Coord C2 exon
chr17:40665879-40665996
Length
18 bp
Sequences
Splice sites
3' ss Seq
TGTAAATTTGTGTTTTCAAGCCT
3' ss Score
5.01
5' ss Seq
GTGGTAAGA
5' ss Score
8.24
Exon sequences
Seq C1 exon
GGAACTCTCAACTTTGGTGGGATCAGGGTGGGCAACGGACCGACAGAGGAGGATGCTGAGATTATTCAGCATGACCAGCTCTCCACCCACTCAGAGGACGCAGACGAG
Seq A exon
CCTTCCGAGGACGAAGTG
Seq C2 exon
TTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_MULTIEX2-2/3=1-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.039 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(19.6=100)
A:
PF0149614=V_ATPase_I=FE(0.6=100)
C2:
PF0149614=V_ATPase_I=FE(21.8=100)


Main Inclusion Isoform:


Main Skipping Isoform:
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCTCCACCCACTCAGAGGAC
R:
GCAAGTAGGAGGCAGTGTTGG
Band lengths:
118-136
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