HsaEX1005160 @ hg38
Exon Skipping
Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase H+ transporting V0 subunit a1 [Source:HGNC Symbol;Acc:HGNC:865]
Coordinates
chr17:42478463-42483131:+
Coord C1 exon
chr17:42478463-42478589
Coord A exon
chr17:42478927-42479049
Coord C2 exon
chr17:42483038-42483131
Length
123 bp
Sequences
Splice sites
3' ss Seq
GTAATTTTTTTTTTTTTGAGGTG
3' ss Score
3.84
5' ss Seq
CAGGCATGT
5' ss Score
2.05
Exon sequences
Seq C1 exon
CTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT
Seq A exon
GTGGAGTCTCACTCTGTTGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACCACAACCTCCGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGATTACAG
Seq C2 exon
GTTCCGAGCCTCACTCTATCCCTGTCCTGAGACACCACAGGAGAGGAAGGAAATGGCTTCTGGAGTGAATACCAGGATTGATGATCTCCAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_MULTIEX4-7/9=6-9
Average complexity
C3*
Mappability confidence:
98%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.253
Domain overlap (PFAM):
C1:
PF0149614=V_ATPase_I=FE(21.6=100)
A:
PF0149614=V_ATPase_I=PD(10.4=39.0),PF139001=GVQW=PU(72.9=85.4)
C2:
PF0149614=V_ATPase_I=FE(3.9=100)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
TCGTGGCTGGTGTCATTAACC
R:
CATTTGGAGATCATCAATCCTGGT
Band lengths:
219-342
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains