Special

HsaEX0006975 @ hg19

Exon Skipping

Gene
ENSG00000105929 | ATP6V0A4
Description
ATPase, H+ transporting, lysosomal V0 subunit a4 [Source:HGNC Symbol;Acc:866]
Coordinates
chr7:138394369-138406770:-
Coord C1 exon
chr7:138406642-138406770
Coord A exon
chr7:138400509-138400626
Coord C2 exon
chr7:138394369-138394540
Length
118 bp
Sequences
Splice sites
3' ss Seq
TAAACAATTCCGTCTTTCAGTTC
3' ss Score
7.85
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
CTGCAGGCATCCAGGATCCAAGAAGATGCCACTGAGAACATTGAAGGTGATAGCTCCAGCCCTTCTAGCCGTTCTGGCCAGAGGACTTCTGCAGATACCCACGGGGCTCTGGACGACCATGGAGAAGAG
Seq A exon
TTCAACTTTGGAGACGTCTTTGTCCACCAAGCCATCCACACCATCGAGTACTGCCTGGGCTGCATTTCAAACACAGCCTCCTACCTGCGGCTCTGGGCCCTCAGCCTGGCTCATGCAC
Seq C2 exon
AACTGTCTGAAGTGCTCTGGACTATGGTGATGAACAGCGGCCTTCAGACGCGAGGCTGGGGAGGAATCGTCGGGGTTTTTATTATTTTTGCCGTATTTGCTGTCCTGACAGTAGCCATCCTTCTGATCATGGAGGGCCTCTCTGCTTTCCTGCACGCCCTGCGACTGCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000105929-'25-28,'25-27,26-28
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.570 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(5.2=100)
A:
PF0149614=V_ATPase_I=FE(4.8=100)
C2:
PF0149614=V_ATPase_I=FE(7.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGGTGATAGCTCCAGCCCTT
R:
CGTGCAGGAAAGCAGAGAGG
Band lengths:
242-360
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