Special

HsaEX6022779 @ hg38

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase H+ transporting V0 subunit a1 [Source:HGNC Symbol;Acc:HGNC:865]
Coordinates
chr17:42487155-42494473:+
Coord C1 exon
chr17:42487155-42487367
Coord A exon
chr17:42490487-42490637
Coord C2 exon
chr17:42494334-42494473
Length
151 bp
Sequences
Splice sites
3' ss Seq
AATGTGCTAATGTTTTTCAGGAA
3' ss Score
8.91
5' ss Seq
CAGGTAAAA
5' ss Score
8.59
Exon sequences
Seq C1 exon
GTTCTGAATCAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGGTTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAACCTGTGCAACATAGATGTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATCCAGTTTGCACTCAGAAGGGGCACG
Seq A exon
GAACACAGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG
Seq C2 exon
CTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.175 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(10.3=100)
A:
PF0149614=V_ATPase_I=PU(7.8=97.4)
C2:
PF0149614=V_ATPase_I=FE(5.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAAGTGCGGAAGATGAAGGCC
R:
GCTCTCCCTCAGTACCATCCA
Band lengths:
248-399
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains