Special

HsaEX0006962 @ hg19

Exon Skipping

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40665879-40674596:+
Coord C1 exon
chr17:40665879-40665996
Coord A exon
chr17:40666307-40666478
Coord C2 exon
chr17:40673045-40674596
Length
172 bp
Sequences
Splice sites
3' ss Seq
TTGTGTCTCCCATTCCCCAGAGC
3' ss Score
9.35
5' ss Seq
CTGGTGAGG
5' ss Score
8.3
Exon sequences
Seq C1 exon
TTTGACTTTGGGGACACCATGGTCCACCAGGCCATCCACACCATCGAGTACTGCCTGGGCTGCATCTCCAACACTGCCTCCTACTTGCGGCTCTGGGCCCTCAGCCTCGCTCATGCGC
Seq A exon
AGCTGTCTGAGGTGCTTTGGACCATGGTGATCCACATCGGCCTGAGCGTGAAGAGCTTGGCGGGAGGTTTGGTGCTGTTCTTCTTCTTCACTGCCTTTGCCACCCTGACCGTGGCCATCCTCCTGATCATGGAGGGCCTCTCGGCCTTTCTCCACGCACTGCGCTTACACTG
Seq C2 exon
GGTTGAGTTCCAGAATAAATTCTACAGCGGGACCGGTTTCAAGTTCTTACCCTTCTCCTTCGAGCATATTCGGGAAGGGAAGTTTGAAGAGTGAGTCCCTGTGAGGGCCGTGTGCCCCATGCTACCCTCCCCGCCTCCCTCCACAGTGATCAGCTGTGCCTCTCTGCCTGTTGGTTGTGATCTGTGGGCACCAGCTCATTCGTGTCACCCTGTCTGTGAGTCATTTAGATAGAATAGTCCTCCTTGGGTCTCCCACCACCCCTAGCTTTGTGTGTAGTGTAGTGATTTTCTGGCTGTCACTCATACTCACTGGGCACCAGCCTTGCCCTCTTAGCCTCCATCCATCCAGACAGCCCTTCCCACCTCCTGGTGGTGAGCCAGTCTGCATTCCCACGCCATCCCAAAGCCCTTTCATCTTCCCCGTGCATTGTAGATGGAAGGAGCACCCATGCCATTCACATCTAGACTTTGAGTTCCCTGCATCTGCCACCGTAGTTTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627_CASSETTE4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref, Alt. Stop)

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(21.8=100)
A:
PF0149614=V_ATPase_I=FE(12.0=100)
C2:
PF0149614=V_ATPase_I=PD(13.4=68.6)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCATCCACACCATCGAGTAC
R:
AGAGAGGCACAGCTGATCACT
Band lengths:
253-425
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