HsaEX0006970 @ hg19
Exon Skipping
Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124233122-124236949:+
Coord C1 exon
chr12:124233122-124233332
Coord A exon
chr12:124235657-124235776
Coord C2 exon
chr12:124236830-124236949
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
AGTGGCTACACACTTATAAGGAAAGATAGTGAGGAAGAAGTTTCATTGCTGGGAAGCCAAGATATAGAAGAGGGAAATCACCAGGTGGAAGATGGATGTAGAGAAATGGCGTGTGAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344_MULTIEX1-1/4=C1-2
Average complexity
S
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=PU(3.3=80.0)
Main Skipping Isoform:
NA
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:
TTACCTGGTTTCCATCCCGGA
R:
GCTTCCCAGCAATGAAACTTCT
Band lengths:
244-364
Functional annotations
There are 1 annotated functions for this event
PMID: 32249828
This event
[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
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)