Special

HsaEX0006971 @ hg19

Exon Skipping

Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124233122-124244441:+
Coord C1 exon
chr12:124233122-124233332
Coord A exon
chr12:124236830-124236949
Coord C2 exon
chr12:124242474-124244441
Length
120 bp
Sequences
Splice sites
3' ss Seq
TGTGCTCTTTTGGTTGTTAGAGT
3' ss Score
6.39
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
Exon sequences
Seq C1 exon
GCACTTCAGGAAGAAGTTCAACATTTACCTGGTTTCCATCCCGGAACTTCTCTTCATGCTCTGTATCTTTGGATACCTTATATTTATGATTTTCTACAAGTGGCTGGTTTTTTCAGCAGAAACCTCCAGAGTTGCTCCCAGCATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCAGTAAAACAAGTGGCCTTTACACAGGGCAG
Seq A exon
AGTGGCTACACACTTATAAGGAAAGATAGTGAGGAAGAAGTTTCATTGCTGGGAAGCCAAGATATAGAAGAGGGAAATCACCAGGTGGAAGATGGATGTAGAGAAATGGCGTGTGAAGAG
Seq C2 exon
GGTAGAATTTCAGAACAAATTCTACGTTGGTGCAGGCACCAAATTTGTTCCTTTCTCATTCAGTCTACTTTCATCAAAGTTCAATAACGACGACAGTGTGGCATGATCATATTGCTGTAACCAACAAGCTTTCAGATTTATGGAGAATGACCATGTTATAGACTTTCACTTATGTCAGATTTATGATAGGAAAAATTCCATCTTCATTACTGCCTTATGACATAGCCAAATAATTCTGTAAGATATACCTCTTCCTCATATGTTAAATATTTTGTAAAGTTTACCAATTTGAGATATAAAAATTTCTTTTGGTTTTTTATGATGAGCAAATATAAGTTAATGCCAAACGTTATGTTAAAGTTATTTTTTCAAATACAGGATTTGGGGAGAGAAGCCAATTTTGCATGGCTAGTTGAAAATGGTATTAGATACTTATTTCCTTTAAACTTTATTTAAAACAAACAACAGAGTTAATCTGTCACCTGAAGTTGCCAGATAAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344_MULTIEX1-2/4=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=PU(3.3=80.0)
C2:
PF0149614=V_ATPase_I=PD(17.1=67.7)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACATTTACCTGGTTTCCATCCCG
R:
GGAACAAATTTGGTGCCTGCA
Band lengths:
242-362
Functional annotations
There are 0 annotated functions for this event


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