HsaINT0015084 @ hg19
Intron Retention
Gene
ENSG00000185344 | ATP6V0A2
Description
ATPase, H+ transporting, lysosomal V0 subunit a2 [Source:HGNC Symbol;Acc:18481]
Coordinates
chr12:124238967-124241533:+
Coord C1 exon
chr12:124238967-124239084
Coord A exon
chr12:124239085-124241361
Coord C2 exon
chr12:124241362-124241533
Length
2277 bp
Sequences
Splice sites
5' ss Seq
CACGTAAGT
5' ss Score
10.16
3' ss Seq
CAGGCTGCACTCCTTTGCAGAGT
3' ss Score
6.5
Exon sequences
Seq C1 exon
TTTAATTTTGGAGAAATATTAATGACCCAAGTAATCCATTCCATCGAGTACTGTCTGGGATGCATCTCCAACACCGCCTCCTACCTGAGGCTCTGGGCGCTTAGCCTGGCTCACGCAC
Seq A exon
GTAAGTTCCTGCTTAGACCTGCAGTTCCCAATGCCCTGTAGTGCCAGCAGACTCAGGGGGCACTGTGGGATATTTTAACTTTGTAACTAATAGTCATAGCACCATCTTTCAGCTGCCACGTGAACTTACACTATTCACTACTTAATACACAGCTCTCTTGGCTATTTCTTTTGGCTGAGGAGTGCTGTGGAAAAATCACAGAGGGAGTCTCTCTGAGGCTGGTCTGGCTTCAGAGCCTGCCCAATTTAAAAAAAAAATCACTGAGACACAAGGGGCTTTGAGAACTGAGACGGCTTGGGAGCCTCTGGTGTAAGCACTTGCTACTGTTGCCATTACTGTTTCTGTTAGTAGTTATTTCATTCACTGCTGCCTTACCAAGTGTGAATATCTGTTTATTTCAAGCAAGTCCTGCCACAGCACTCATGGGTAGCCTTGATCACAGGAGTCCTCCCTTTGCACAATTCCAGTAATGCACACATGTTAGTTTCCACAGTGTAGTTAACACCTGTTCCCCAGCAGCATGGTTCCCATTTCAGTCACCACAGTACCTAGCCGTGCAGTTAGGTGCAGGTGCATTTACCAGCCTACGTGCGGCAGGTGTCGTGATGAAGATGCTGATAACCCACCAGTGGTGCTCGGCAATGTTTCAGGACGTTGAAGGTTTGTGCAAAGGGTGCAATGTTGCAAGTGGGTTCAGACGTAGAAAAGAATAGGACAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGGGGCCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTTGACACCAGTCTGACCAGCATGGCAAAACCATCTCTACTAAAAATACAAAAATTAGCTGGTTGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGATTGAACTTAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACATCACTGCATTCCAGCCTGGGTGACAGACCGAGACTCTGTCTCAAAAAAAAAAAAAAGCTAAAAAAAAAAAAAAATAGGACAATTTGGCAAGTATTAGGAAAGATGCTTGCTCTGCATCAGGTCACCCAGCTTGCCAATTTACACAGCAGGAACCAAGCACTGTTCAAACTACCCTAATAAACTTTTTTTTTTTTTTAAATAACAGACAAAAGACTTTAATACTCAGTGCTTCTAATGTTTCAAAGATAGATTTACCATTTTTTCATTTCCCTATATTTTTTGTTAAAACATTAATAACTCTCTTATTAGCTGGGTGCTGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCTAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGACAGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAACCGAAAAACAACTCTCTTATTGTTGGCCAACAATATAGCCAACAATAAGAGAGTTTTTAATGTTTTAACAACAATTTTAAAGGCCACAGAGCAAACCATTTTTCCCATGGATTAATAGGGATGCTTCGGATGGTTTTGATTGCAAGGTCTTTACTGTGCAAAGCAAGCACTGCCTGTGCTTGTGGAAACCACCGGACAAGAGGGTGTCTTTTTTTTTTTTTTTTTTTTAGTTAAAAAAAAATGCTTATGTTTTTATAAGCATAGCCAAAGGTCTGGAATTTTGTGGCTGGAGGGGCCCTGTCTCGTTCATCTCCATTTTGCAGAGGTGGTGACTGAAGCCACTGAGTGTCGGTGCTTTACTCATGGTCATCCAGTTGATCCCTCAGTGGCAGAACCAGGCCTGGGAGCCTGTTTCTGGCTGCCTGGTCCAGTGCGCTTTGGGAGGTCACAACCCAAACCTAGTCTGGGGCAAGACCTCCCTTTGGGAGATGGCCTCTGATATTTTTGGAGCACCAGGTCTTCCTTAGTGTTTGAGACCGTCTCGGAGCTGACTGGCTTTCACATGAGAAACAGTTGGGTCTGTGTTACATGTGTGTCTATTATTTTATGGGATAATAGTTCAGGGCCGTCAGGGGGAAACTCAGTCCAGGTAGCTCACAGAGGGACCCACTGTACATAAGCGAGCATGACCTGTGCAGGCTGCACTCCTTTGCAG
Seq C2 exon
AGTTGTCTGATGTCCTGTGGGCCATGCTGATGCGCGTGGGCCTCCGCGTTGACACCACCTATGGCGTCTTGCTACTGCTCCCGGTTATCGCGCTCTTTGCAGTTTTGACCATTTTCATCCTTCTGATCATGGAAGGGCTTTCTGCGTTTCTTCACGCCATACGCCTCCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000185344-ATP6V0A2:NM_012463:18
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(31.7=100)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(46.3=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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
- Genotype-Tissue Expression Project (GTEx)
- 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)