Special

HsaINT0015083 @ hg19

Intron Retention

Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124236830-124239084:+
Coord C1 exon
chr12:124236830-124236949
Coord A exon
chr12:124236950-124238966
Coord C2 exon
chr12:124238967-124239084
Length
2017 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAT
5' ss Score
8.39
3' ss Seq
TGTTGTGTGATCTCTCTCAGTTT
3' ss Score
8.12
Exon sequences
Seq C1 exon
AGTGGCTACACACTTATAAGGAAAGATAGTGAGGAAGAAGTTTCATTGCTGGGAAGCCAAGATATAGAAGAGGGAAATCACCAGGTGGAAGATGGATGTAGAGAAATGGCGTGTGAAGAG
Seq A exon
GTAAATCTTTTCAACTGCTATTGATAAACTTAGATAAGTAACCAAGCTTCCATAGAGATAATCATGTTAAGATAATATTTAATCATCTTAAAAAATGGTTAAGAAAATGGGACTTCCAGCCTCCACAACTATGAGAAACCAGCGCTTTCCAAATGCTGTTTGATGATAGAGTTGGTGGCATTATATGAGTTCGGGTCATTTTGTCCTTTCACTTCGCCAGTGGGATTTCTGCTGTTATATTAAGAGTTATGATTGGAGTGACTTAAGGTGCCATGAACATTGCTTTCAGAAGCTTCTTGGGTCAGTCAGAACTTTTCCATAGTTGCAAGAAATAGAGACCCAGTTTTTTCTGATTGCGAAGGGATTTTACTGGCTCATGGCAGGACAGAGGTAGAGTTGGTTTCAGGATAATTACAGTTTTGGGGTCTCCAATTCCAAGAGGCCTTGGTTGGCTTTTTTTCTTTGTAAGTTTTCTTTATATTGTGAAGTCAGTTGGCCCCATGATGCTAGAACCATGGTCACAAGTTGCCCTGGGCTTATTTTTTCAGTCTTTCCATTAGAGAGCAAAGCGCCCTTACCAGCTTGTTACTATTAGGAAAGAATCCCCAAATACCTGCCATCCCTGGACCAGTGACTGCTGCCTCAGTCCCCTTTACGAGTGACCGCTGCCTCAGTCCCCTTCACCAGTGACTGCTGCCTGAGTCCCCTGGACCGGTGTCTGCTCAGTCTCCCTTACCAGTGACCACTGTGTCAGTCCCCTTTACCAGTGACTGCTGCCTGAGTCCCCTGGACCGGTGTCTGCTCAGTCTCCCTTACCAGTGACCACTGTGTCAGTCCCCTTTACCAGTGACTGCTGCCTTAGTCCCCTTTACCAATGACTGCGTTCTCAGTCCCCTGGACCAGTGACTGCTATCTTAGTCCGCTGGGGCTGCCATAACAAAATACCACGGACTGGGTGGCTTCAACAAGAGACTTGTTTCTCACAGCCCCGGAGGCTGGCAGGCCCGGACTGAGATGCTGGCAGGCTGCTTTCCCCTGAGGCCTCCCTGCTCAGCTTGCTGTGTCGGCACAGGGCCTTTCCTCTGTGCCTGCACCCCTGTTTCTCCTGCTCTTCCCAGAAGACAGTAGTCACAGTGGGTCAGGGCCCACCTCCTGACCTCACTCAACCTTGATTACCTCCTCAAAGGTTCTGTCTTCAAATACAGTCACATTGCGGTTAGGGCTTCAGCATAAGACTTTTGGGAACATAATTCAGAGCCAGTGTGGTTGGGGGTACGAGGCTGGACAGGGAAGTAGCGGCTCCCCGCAAAGAACAGAGGTGCAGTCCCAGGAAGACAGCAGAGCATGGCCTCCTTTCTTTTCATGGAAACTTTATTTTGGCCATTTAGTGAGGACCAAACAAAATGTCTTATAATCAACATTTTGTAATTATTATGTAATTTCGTGTTTTAATTCGGGACAATTAATAATTAAGTTCTAGGATCATAGAGAAACAAAAGCAGAGCTGGAAAGCGCATGAGAGTCACCTTGCCTGGTGCTTTGCAGCCCTTTCCCTGTCAGGGGCCCCTTGCATAGTTTTCCCTGGTTGGCTCTACTTAGAATGCTCACATCTAGTGAATCGCAGTCTACTCTTAGGGTTGGTGAATACCTATTTTATCAGTAGATGTTTCATAATTACTGAGACCTGCCCCAGAATCCCATTAGTATAGCAGCTGTGGCCACGGCAGTTCCTCTGGTCTACCTTCTTGGTTTACACAGGGGAGTCTGAGGCGTGCGGTGGGAGTGGGGCTGATGAAGGTGGGGATTTGGGGTGGTAAAGTCTGGTCATGGAGCTGGGTAGTGGCAGAGTGGTGAACAGAGTGCGTCTGGGGTTTCTGTTCCTCACACTCTAGCGTGTTCTTACCAGCATCCAGCCGGCAGCTCTTTCATTGTAATCCTTGAAGTGGAACCCACTTGGCATGTAGAAGTACACATGTAACATCATGACTCTTAACATATGTTGTGTGATCTCTCTCAG
Seq C2 exon
TTTAATTTTGGAGAAATATTAATGACCCAAGTAATCCATTCCATCGAGTACTGTCTGGGATGCATCTCCAACACCGCCTCCTACCTGAGGCTCTGGGCGCTTAGCCTGGCTCACGCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344-ATP6V0A2:NM_012463:17
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=PU(3.3=80.0)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(31.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development