Special

HsaINT0015055 @ hg19

Intron Retention

Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40639173-40642655:+
Coord C1 exon
chr17:40639173-40639385
Coord A exon
chr17:40639386-40642504
Coord C2 exon
chr17:40642505-40642655
Length
3119 bp
Sequences
Splice sites
5' ss Seq
ACGGTGAGT
5' ss Score
11.45
3' ss Seq
AATGTGCTAATGTTTTTCAGGAA
3' ss Score
8.91
Exon sequences
Seq C1 exon
GTTCTGAATCAAACGGAGGATCACCGCCAGAGGGTTCTGCAGGCAGCTGCTAAGAACATCCGTGTCTGGTTCATCAAAGTGCGGAAGATGAAGGCCATCTATCACACCCTGAACCTGTGCAACATAGATGTGACTCAGAAATGCTTGATTGCAGAGGTCTGGTGCCCTGTCACCGACCTTGACTCCATCCAGTTTGCACTCAGAAGGGGCACG
Seq A exon
GTGAGTCCCCAAAGCTAACAATGCAGCTCGTGGCCCGGAAGAGAGGTTCCCATCAATAGTAACATTAATGTCATTTTTGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCGAGGCGGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAATACAAAAAATTAGCCGGGCGTGTTGGCAGGCGCCTGTAGTCCCAGCTACTCTGGAGACTGAGGCAGAAGAATCAAGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCTGAGATTGCGCCACTGCATTCCAGCCTGGGCAACAGAGCGAGACTCTGTCTCAAAAAAAAAAAATAATAATAAAAAATAAATAAATAGTAACATTAATGTCATTTTTATGGCATTTCACCTTCAGAGTTCTTCAATATATTTATTTGTCTTTTAACTTGACAGCACATTTCATACATAGCCTGGCATATAATATGTATATCATAGCGTAGCATAGCATATCTTTATTTTGCATATGTGGAGACTGCAGTTCAGAGAGCTGAAATAATTTGGTCATATGCCCATGATTCTTCAGGGTTGTTCATGGCCAGGGCATCAGTTTCCTGATGCCCTCTCTGTATATGACTGTTTCTGTTTAGTAGTTAATTAGAACAACTACTCTGTCCACAGAAGTGCTGTAAGTGCCTGGAGGAGTACAGAGATGTATAAAACATGCCCTCGAGTATCTTACAGTTTATTAGGAGAGTTCCAACTATGGAGTTGGAAAAAGCTTTAAGCAGGTGGCATTTGATCAGGTCTTTGAAGAATGATAAGTTGTTGGTAAGACTGCTGAATGAAGAGAAGAAAACAAAGGCAGGAAGTATGGTTAGACCATGTATGTTTGGACAAGAACAGGATTTACAGTGGGTTAGCTGAAGAGAAGTACCTGTCTGCATCAGGTAGTTTGGAACTTAATTGTGAAAGGTTCTTAAATAATAGCTTAGAAGATTTAAATTTTATTCCAGAGGAAGTTGAGAGACATTGGAAGTTCTTTAGGGGTAAAGGAACATGATCAAAGCAGTTTGGGTGGTTTTTTACATTTTTAATTTTGTGTTTGAGACAAGATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGTGCCATCTCAGCTCACTTCAGCTTCCAACTCCTGGGCTTAAGCAATCCTCCCACTTCAGACTCCCGGTAGCTGGGACTACAGGTGCCCACCATCATGCGTGGCTAATTTTTTGTAGAGACAGGGTTTTGCCATGTTGCCCAGGCTGATCTCAAATTCCTGGGCTCGAGTGATCTGCCTTCCTTGGCCTTCCAAAGTGTTGGGGCCAGGCGTGGTGACTCACTCTTGTAATCCAGCACTTTGGGAGGTTGAGGCGGGTCATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGACAAAACCCCGTCTCTACTAAAAATACAAAAAAGTTAGCCAGGTATGGTGGTGGGTGCCTGTGATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAACCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCTGAGATCATGCCACTGCACTCCAGCCTGGACAGCAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAGTGGGTCACCACGCCTGGTGGATCAAAGCAGTTTTTTTGTTTTTTGGTTTTTTTTTTTTTGAGATGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCCTCCACCTCCCTGCTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGTGCGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTGGAGACGGGGTTTCATCACGTTGACCAAGCTGGTGTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCAGGGATTACAGGCATGAGCCACTTCTCCTGGCTCAAAGCAGTTTTAAAAGAGTAATCTGCTGATAGTATCTAGGTTGGATTGAGGAGTGAAGAGATTCTGTAGGTAGGGGTTCAGTTAGGAGGTTATTGTAGACATAGAGTAGTAAATGATAAGGATCCCCAGGTAGGACTTGACAATGGGAAAAAAAATGATGAATTGTGAGATGTTCTGCAGGAAAAATCAATAGGGCTACCTGGTTCCTAGCAAGGTGCAGGAGAAATACAAGGAGAAAGATTTAAACATCTTTTTGAGGCATCAAAGCTGACTGGCCAGGAGAATTAGGGTTCCAATGAGGGAAGTAAATGTTCAGCCAGAGAAGCTTATTGATTGGGGAGAGATGGTAAGTTCAGTTCCGGGCACATTGAGGTCTATGTGGAAATGTCAAGCAGACAAGGGAACAAAGCTAAGGAAATGGGAGTCATGAGAATGGAAGGGAATGAGACCTCCAAGAGGGAGGTCATAGAGAGAAAAAAAAGGTTGGGGTCTTGCAATGCTATGAGATAGGCAGAGCAGAAATAACCAGCAAAGATAGAAAAGCAATGGTCAGCGAGCAGGAGGAGAACTCCTAAGGAAGAAGGATTTTCACCAAAGATCTCCAATGTCAGGGGCGTGCATGGGGGAGAGAAGCTCTTTGGTCAGGAGCCAGTCACTTTGCCTAAGCATGCTCAGCCAGACTGCAAGGGATCAGGAAGTTAAGAGAAGGTAGTGAAGAAGGAGAGCCAGAGAACATACTTTGCTTTCTCCATGAAAGGGGGAGAACAACTTTCATAAAAAGGCAGATATGGAGGCAGTTCCACATTTTCTTTGGTGACATATTTTAAAGTTAAATTTTTTTCACATTAAGGATGTATTTCAGAGGATCTAATAGAAATCTTCCATTATAAATGTTATACCTTTTCCCAGTTTTCCCAAAAGCTGGGAAAGATAATCTAGTTTTATTTTTAGGTTTATTAGTTTTATTGAGATATAATTTACATGAAAGAAAATACATACATTTTATGTGTACCATTTGATGAGTTTCAAGAAATGTACACCTGTGTAACCACTACCACAATTAGGAGGATAACCTAAGTTTGATAAATGTGCTAATGTTTTTCAG
Seq C2 exon
GAACACAGTGGTTCCACTGTACCTTCCATTTTGAACAGGATGCAGACAAACCAGACTCCCCCAACCTATAACAAAACCAACAAGTTTACCTATGGCTTTCAGAACATAGTAGATGCTTATGGAATTGGAACTTACCGAGAGATAAATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-ATP6V0A1:NM_001130020:10
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=0.176
Domain overlap (PFAM):

C1:
PF0149614=V_ATPase_I=FE(10.3=100)
A:
NA
C2:
PF0149614=V_ATPase_I=PU(7.8=97.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
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

  • Autistic and control brains
  • Pre-implantation embryo development