HsaINT0015060 @ hg19
Intron Retention
Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40650942-40652941:+
Coord C1 exon
chr17:40650942-40651060
Coord A exon
chr17:40651061-40652724
Coord C2 exon
chr17:40652725-40652941
Length
1664 bp
Sequences
Splice sites
5' ss Seq
TATGTGAGT
5' ss Score
5.56
3' ss Seq
TTTTTCTCTCTCCTTTTTAGCTA
3' ss Score
11.95
Exon sequences
Seq C1 exon
ATTTGGAACATTGCTACCAATAAACTGACGTTCTTGAACTCCTTTAAGATGAAGATGTCTGTTATCCTTGGTATCATCCATATGCTGTTTGGAGTCAGCCTGAGTCTGTTCAACCATAT
Seq A exon
GTGAGTTGTTCCATTTCTGTCATAAGAATGTGCATAGTTTAGAGAATGCTTTTGTGTAAAGAAATCATGACATCTTTGGGGAGGGATTAATAACTCAGAACCTCATTCTACATTATAGAAGTGCTTTTCTAAAAATTTAATGGTGTGGCCAGGCGCGGTGGATCATGCCTGTAATCCCAGTACTTTGGGAGGCCAAGGCCGGTGGATCACCTGAGGTCAGGAGTTCGAAACCAGCCTGGCCAACACGATGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCAGGTGTAGTGGCACGCGCCTATATTCCCAGCTATTCGGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCGCAGTGAGACAAGATGGCACCACTGCACTCCAGCCTGAGCGACAGAGTGAGACTCTGCCTCAAAAAAAATAAATAAATAAATAAATTTCATGGTCTGGCCGGGTGCAGTGGCTTACACTTGTAATCCAGCACTTTGGGAAGATGAGGCGGGCAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCCACATGGTGAAACTCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGTGTGGTGGCGTGCACCTGTAATCCCAGCTACTCTGGTGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGCAGTAAACCAAGATAACACCACTGCACTCCAGTCGGGGTGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAATGTTGATGGTCTTAAATTAGACTTAATATTAGTCCTTTAACAATTTACTGTTCCAGTAAAGATCCTTGAAAAAAACTTGAGCAATTTTCATCAAAATAAGTGAGGTCTCTTTTTTTCCTTGATGTGCAACTCACATAAAATTATTAGCTGTGGACTGGGTGTGGGGGCTCACACCTGTAATGCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGCCCAAGAGTTCAAGACAAGCCTGGGTAACACGGCAAAAGACCCCATCTCTACAAAAAAAAAAAAAAAAAAAAGTTATGAACTGTGGTCTCAAAATGTACTAGATTTTTCCATTCTCTTTCTCATGGAGAGAATGGTGGGGATGGTATTGGAGCCGTTCAAGGTTCAAAAGTTTAAGGCCTGGCACAATGGCTCACATCTGTCATCCTGCACTTTGGGAGGCCAAGGCGGGCAGATCACCTGATGTCAGGAGTTCAAGACCAGTCTGGGCAACATGGCAAAACCCCATCTCTACAAAAAAATGTAAAAATTAGCTGGGTGTGGTGGCGCATGCCTGTAGTCCCAGCTACTCGAGAGGCTGAGGTAAGAGGATTGCCTAAGCCCAGGGAGGTTAAGACTGCGGTGAGCCAATATTGCACCACTGTACTCCAGGCTGGGTAGCAGAGTGAGACCCTGTCTCAAAAAAGAAAAAGCAACAGCAAAACAAAACCAAGGTTCAAAAGTTTGACCGTGATAGTTAATCCTGCATTGTCTCTGTTGTCTCCAGCTTCTGGTTGCTGCTGCTTAAAGTGATAAAGACAGAATTGAGGGGGTATTAAGTAGAAAAATCTAGTGAATACTCCATTCAGTGTAGGAGTGGCCCTAGGCCCATTTACCCTTAACATTTTTTTCTCTCTCCTTTTTAG
Seq C2 exon
CTATTTCAAGAAGCCCCTGAATATCTACTTTGGATTTATTCCTGAAATAATCTTCATGACCTCTTTGTTTGGCTATTTGGTTATCCTTATTTTTTACAAGTGGACGGCCTATGATGCTCATACCTCTGAGAATGCACCAAGCCTTCTGATCCATTTCATAAACATGTTCCTCTTTTCCTACCCAGAGTCTGGTTATTCAATGTTGTATTCTGGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-ATP6V0A1:NM_001130020:15
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(4.9=100)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(10.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGGAACATTGCTACCAATAAACTG
R:
TGTCCAGAATACAACATTGAATAACC
Band lengths:
334-1998
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)