Special

HsaINT0015070 @ hg19

Intron Retention

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40630481-40632767:+
Coord C1 exon
chr17:40630481-40630607
Coord A exon
chr17:40630608-40632684
Coord C2 exon
chr17:40632685-40632767
Length
2077 bp
Sequences
Splice sites
5' ss Seq
ACTGTAAGA
5' ss Score
4.8
3' ss Seq
TTTTTTATTCTGGGGCCTAGGGC
3' ss Score
6.75
Exon sequences
Seq C1 exon
CTTCGTGGCTGGTGTCATTAACCGGGAGCGCATCCCTACTTTTGAGCGCATGCTTTGGCGGGTATGCCGGGGAAATGTGTTCCTGCGACAGGCTGAAATCGAGAACCCCCTGGAGGATCCTGTGACT
Seq A exon
GTAAGACAAGGAGATTGCATCCTGTGGAGTAGGTCTTGTAAAGGGAGCCCAGAGCAGTAACGTAGCATGGGGCCACCTGAATCCAGTGCTTCCACAGAGGAGCCATTATCTTTATCTCTGCTCTAATTGGAGAATTTGAAGTACTTCCTCTTAGTTAATTCCTGTCATATATACATATGGATGTATGATGTATACATGACATATACATATTTTCAAGTTTACCCGTGTAGATGTTATTCTGATTGGAAATTTTTATTTTCACTCATTTGCCTTTTATGAAAATTAACTTTAAAGCAAGACATCTGGTTCCAAATTTGGTAATTTTTTTTTTTTTGAGGTGGAGTCTCACTCTGTTGTCCAGGCTAGAGTGCAGTGGCGCGATCTCGGCTCACCACAACCTCCGCTTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGGATTACAGGCATGTGCCATGATGCCTGGCTAATTTTTTCTGTATTTTCAGTACAGACAGTGTTTTACCATGTTGCCTAGGCTGGTCTTGAACTTCTGATCTCAAGTGATCTGCCTGCCTCGGCCTCCCAAAGTGTTGGGATTATAGGCATAAGCCACCATGCCCAGCCCCAAGTTTGGTAATATTCATGTATAAAAAGAGAAGGAGAGATTTCCTAGACTGTGATCTTAATAAGCTGATGAAATTTTACTTGGTAAAGTTTTTTTGTTTGTTTGTTGGAAGGATTAGAAACTTAGTTTAAGAATAGATATCGCACAAAATAGGATGATCTTCCCCACCCAGTACTTCAGGAAGTAGAAACAGTTTAACATCCTGGCATTTGCCATAATGGGACAGAGTTTATCGTCTAAACCTGCATTTAGGTATGGTGAGTCCTGATTTCAGGGAGTACCAGTGAAGATAAATGTACTGCAAAAATTTTGCTTTGCTTTTGTACTAGTATTATTTAGAAACCTAAAGTTAGCTTTTCTGTTCTAAATTATCTTGTGAATTTCTTAAATTCGTGTTCTTTACCTAAAAAGAGAGAGATTGAATTGTGAGATTTCTCAGATTGGGTGGGCTGTGCAGCTGCAGGTCTTTCATCCTCCATGCCGTGGAGGAGTGTGGTTACACTTCAGGTGAACCCCCTGCCTAGGGGTGTAGTTTCACAATCTTGCCAAAGGCCATCAGGTTGTGGAAACGTTGTAATTTGTAGTCACATTAATGAGGAACTTTTCTCAGGAATATTCAGTCAAGTTTCCTCTTGGCAACAGAAAGGTTATTTTATCAACAAATCCAGAAATGGGGACCCTGGATATCTGTAACAGAGCAGGCTGCACAAAGAATGGGTTCTAGTTTAGCCTACAGAATTTAGGGATTTCAGACCCTTGAGCCCAATTTTCTTCACTCCTCATCCCCTTTTATCCTTCTAAAGTTTTGTTTGTTATTATAAAAGCTCTACATGCTGTGTATGACTATGAGAAAATACAGGCAACCTGAGACAATCCTGGTTAACACACCATACACCTTTTTTTCTGATCTTTCCTTCCAGTCCTTGCATCATACTTCAGGTATAAATTTGGTATTTGGAATGGATTACCTTCCTCCCTGCCCCATAAAGTCCAGATTAGCTTGAATTGTGAGATTCTATATCAGCATTCTTTCCAGGGACTCAGTTCCTTGTAGTTATTCAGCCCCTTTTATCTAAGAATTTCTAAGTCCCAGAACAGGCAGAAATGGCTTCCTTCTCTTTTCTCTCCTATACTTTCATCATTCAGGCAATATAAGATTTAAAGCTGAATTGGTAAATAAGTCTAAACAGTGCTAAGAGGAGCATCATCTTAGCTTCAAGCTCCTGGTTGAGTCAAAAAAACAAATAGAGAAAGATTTTTGTGAATTAGAGATTATAGGGCAGATGTTCTTGTAGTGAAGCTTAGGAAATGGAGTGAGGGCAGTGGTTAAAATGCAGGACTGCCATGTCCTTAAAAGATGCCTGTTGTTCTTGCATCACCAAAAAAGTGGGTTATTTAAGAGATTTTCATCCAGATACAGAAGTCTGAACTCTTGTTTTTTTATTCTGGGGCCTAG
Seq C2 exon
GGCGACTACGTGCACAAGTCTGTGTTTATCATTTTCTTCCAAGGCGATCAGCTGAAAAACAGAGTCAAGAAAATCTGTGAAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-ATP6V0A1:NM_001130020:7
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(21.6=100)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(13.9=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
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

  • Autistic and control brains
  • Pre-implantation embryo development