HsaEX0006970 @ hg38
Exon Skipping
Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase H+ transporting V0 subunit a2 [Source:HGNC Symbol;Acc:HGNC:18481]
Coordinates
chr12:123748575-123761755:+
Coord C1 exon
chr12:123748575-123748785
Coord A exon
chr12:123751110-123751229
Coord C2 exon
chr12:123757927-123761755
Length
120 bp
Sequences
Splice sites
3' ss Seq
CTCACCTTCTGCACTAACAGGAG
3' ss Score
7.78
5' ss Seq
CGGGTAAGT
5' ss Score
10.75
Exon sequences
Seq C1 exon
GCACTTCAGGAAGAAGTTCAACATTTACCTGGTTTCCATCCCGGAACTTCTCTTCATGCTCTGTATCTTTGGATACCTTATATTTATGATTTTCTACAAGTGGCTGGTTTTTTCAGCAGAAACCTCCAGAGTTGCTCCCAGCATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCAGTAAAACAAGTGGCCTTTACACAGGGCAG
Seq A exon
GAGTATGTCCAGAGAGTGCTGCTGGTTGTCACAGCATTGTCTGTCCCTGTCCTCTTCTTGGGAAAGCCACTGTTTTTGTTGTGGCTTCACAATGGGCGTAGTTGCTTCGGGGTGAACCGG
Seq C2 exon
GGTAGAATTTCAGAACAAATTCTACGTTGGTGCAGGCACCAAATTTGTTCCTTTCTCATTCAGTCTACTTTCATCAAAGTTCAATAACGACGACAGTGTGGCATGATCATATTGCTGTAACCAACAAGCTTTCAGATTTATGGAGAATGACCATGTTATAGACTTTCACTTATGTCAGATTTATGATAGGAAAAATTCCATCTTCATTACTGCCTTATGACATAGCCAAATAATTCTGTAAGATATACCTCTTCCTCATATGTTAAATATTTTGTAAAGTTTACCAATTTGAGATATAAAAATTTCTTTTGGTTTTTTATGATGAGCAAATATAAGTTAATGCCAAACGTTATGTTAAAGTTATTTTTTCAAATACAGGATTTGGGGAGAGAAGCCAATTTTGCATGGCTAGTTGAAAATGGTATTAGATACTTATTTCCTTTAAACTTTATTTAAAACAAACAACAGAGTTAATCTGTCACCTGAAGTTGCCAGATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344_MULTIEX2-1/4=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
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(8.6=100)
A:
PF0149614=V_ATPase_I=FE(4.8=100)
C2:
PF0149614=V_ATPase_I=PD(17.1=67.7)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTTACCTGGTTTCCATCCCG
R:
GGAACAAATTTGGTGCCTGCA
Band lengths:
242-362
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
[CRISPR screen]. This alternative exon is implicated in cell fitness by a CRISPR-based exon deletion phenotypic screen in RPE-1 cells.
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