Special

HsaINT0015080 @ hg19

Intron Retention

Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124232154-124233332:+
Coord C1 exon
chr12:124232154-124232272
Coord A exon
chr12:124232273-124233121
Coord C2 exon
chr12:124233122-124233332
Length
849 bp
Sequences
Splice sites
5' ss Seq
CTTGTAAGT
5' ss Score
8
3' ss Seq
TGATTCCTTTTCTTTCCTAGGCA
3' ss Score
10.3
Exon sequences
Seq C1 exon
ATTTGGAACTTGGCCACAAATCGCCTCACTTTTCTAAACTCTTTCAAAATGAAAATGTCCGTGATTTTAGGAATCATTCATATGACTTTTGGAGTCATTCTGGGAATATTTAACCACTT
Seq A exon
GTAAGTACAGATTTTTTTTTAAGCAATATTTATAAACCAAACTTGGCATTTCTTCAATTTTGCTTCTTGTTGGTGACTGTATTTATTGGGTAAGGGGCAGCCAATATGATGTTGTATTTACATGATTCTGTTGAAGTTATTTAGATTTTCTGTGGTTTCAGCAATTCATTCAGCAAATATGTATTTATCGAGCGCATAGTAGTGCCAAGTGCTGTTCTAGGCACTAGGAGTTCAGCAGTGAGGAGGGCAGAAAAAAGTTGTTGCCCCAGTGGAGCTTCCATTCAAGTGAGGGAGACATGTGACATGTGCATTCATGTCGATTTCCAGAAGGGGTGCTTGCCATATTCCTTTTTTATTTTACAAATAAAAAATCTTTTTGTTTTTACTTTATTAGAGCTAGTATATGAAGAGTAAGAGATGGTGTCATTTTTCTCTAACTAGACCTGTTCATTCTGATCTCTAAACATAATTTGTATAATTTGATGCTGTAGCTTGAAGTCACTATAACAGGAGTCTTGAAAAACTTGTAACAATGTAAGACACAGCATTTTGGAGCCAGATTCACTAATATTGTGTAGCCTTACTTTAAGGAAGGAAATGTTTCTGAATAAGGGAACTAAGGAAGAAAGTTTGAGTGAGATTTGACCGCAAAAACTGTAGTAGTTTTGGCCGACCTCACGTCTCTTCCTCGTAGATGTATCTGGACACTCAGATGTATCTGGATTCATCATATGAGAAATGATGTTATTCTGAAATTCGCTTTATAGTTTAGTTGCAGAGAGTTTAATTTACTCTTTTTAACTTAGGCTGATCTTGTTCGTGGGTTGATTGATTCCTTTTCTTTCCTAG
Seq C2 exon
GCACTTCAGGAAGAAGTTCAACATTTACCTGGTTTCCATCCCGGAACTTCTCTTCATGCTCTGTATCTTTGGATACCTTATATTTATGATTTTCTACAAGTGGCTGGTTTTTTCAGCAGAAACCTCCAGAGTTGCTCCCAGCATTCTGATTGAATTTATTAACATGTTTTTATTCCCAGCCAGTAAAACAAGTGGCCTTTACACAGGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344-ATP6V0A2:NM_012463:14
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0149614=V_ATPase_I=FE(4.8=100)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(8.6=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGGAACTTGGCCACAAATCG
R:
GCCCTGTGTAAAGGCCACTTG
Band lengths:
326-1175
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development