HsaEX6022776 @ hg19
Exon Skipping
Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40647644-40652941:+
Coord C1 exon
chr17:40647644-40647734
Coord A exon
chr17:40650942-40651060
Coord C2 exon
chr17:40652725-40652941
Length
119 bp
Sequences
Splice sites
3' ss Seq
GTTTTCTCGGGTTATGACAGATT
3' ss Score
4.65
5' ss Seq
TATGTGAGT
5' ss Score
5.56
Exon sequences
Seq C1 exon
TGAAGAGACGCTTCGGGGGAACCCTGTTCTACAGCTGAACCCAGCCCTCCCTGGAGTGTTTGGTGGACCATACCCTTTTGGCATTGATCCA
Seq A exon
ATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATAT
Seq C2 exon
CTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-'14-16,'14-15,15-16=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0149614=V_ATPase_I=FE(3.7=100)
A:
PF0149614=V_ATPase_I=FE(4.9=100)
C2:
PF0149614=V_ATPase_I=FE(10.6=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGAGACGCTTCGGGGGAA
R:
GGATCAGAAGGCTTGGTGCAT
Band lengths:
242-361
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)