HsaEX6022778 @ hg38
Exon Skipping
Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase H+ transporting V0 subunit a1 [Source:HGNC Symbol;Acc:HGNC:865]
Coordinates
chr17:42490487-42495188:+
Coord C1 exon
chr17:42490487-42490637
Coord A exon
chr17:42494334-42494473
Coord C2 exon
chr17:42495034-42495188
Length
140 bp
Sequences
Splice sites
3' ss Seq
TTTTTTTGGTTTCTTCATAGCTC
3' ss Score
8.71
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GAACACAGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG
Seq A exon
CTCCGTATACTATTATCACGTTCCCTTTTCTATTTGCTGTGATGTTTGGAGACTTCGGTCATGGCATTTTAATGACCCTTTTTGCTGTGTGGATGGTACTGAGGGAGAGCCGGATCCTTTCCCAGAAGAATGAGAATGAG
Seq C2 exon
ATGTTTAGCACTGTGTTCAGTGGTCGATACATTATTTTATTGATGGGTGTGTTCTCCATGTACACTGGCCTCATCTACAATGATTGCTTTTCCAAGTCTCTTAATATCTTTGGGTCATCCTGGAGTGTACGGCCGATGTTTACTTATAATTGGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-'46-38,'46-37,48-38=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=0.175 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0149614=V_ATPase_I=PU(7.8=97.4)
A:
PF0149614=V_ATPase_I=FE(5.7=100)
C2:
PF0149614=V_ATPase_I=FE(10.8=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:
AGACAAACCAGACTCCCCCAA
R:
TAAACATCGGCCGTACACTCC
Band lengths:
250-390
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains