HsaINT0015069 @ hg19
Intron Retention
Gene
ENSG00000033627 | ATP6V0A1
Description
ATPase, H+ transporting, lysosomal V0 subunit a1 [Source:HGNC Symbol;Acc:865]
Coordinates
chr17:40622108-40629760:+
Coord C1 exon
chr17:40622108-40622236
Coord A exon
chr17:40622237-40629656
Coord C2 exon
chr17:40629657-40629760
Length
7420 bp
Sequences
Splice sites
5' ss Seq
GAGGTCAGA
5' ss Score
5.24
3' ss Seq
TAATTGATTTGTGAATTCAGGCT
3' ss Score
2.8
Exon sequences
Seq C1 exon
GCCAATTTTGAGAAGATTGAAAATGAACTGAAGGAAATCAACACAAACCAGGAAGCTCTGAAGAGAAACTTCCTGGAACTGACCGAATTAAAATTTATACTTCGCAAAACTCAGCAATTTTTTGATGAG
Seq A exon
GTCAGACTATTGTTTCTTTTAGTATTTGAGCAGCTGATATTATACTCACACAAGTGGGCCATATTTTTATTCCAGTAATTATTTTAATTTGCTAGTTTGGAAGCAATGCCATTTTTGCACCCTGTTTTAGTTACAGAAATGTGAGATTATGTTCCATTTTTCATGCAGTACACAACCAGCCATGGTTTTGCATTTTTTCACATTTTCTTCAATTTTTCATCTCAATATGAGGAAAAGAACCCTGAAGTAGTTGTATAAACATAGTTAGTATAAATTTTTACATTATATTTATACTTATAAGGTAAGTATATGCTTAAGGTTAAAGCTGAGGAAGCAAACATTTGGTTATAGACAAAATTATAACAAAGGTTTAATCACCAAACCTTTTGTCATCAAATTTTTATTTCATTGTCTATGTTTGCTTATAAACCTTCGAGCACATTTTTCAGTACTTCAGATAGCACACATCACACTAATTTTTCAAGAGTTTTTCATTGTATTTATTGTATGGAAAATATTGGTAGGATGCTTGTTTGAAACTTCTGGATTATCACATAAACTTAGACGCATTACCTCAGAGGGAAAAATGTTAGTAAAGTTCTTGGGTTAAATATGTAGGTGAGGCCAGGCATGGTGGCTCATGCGTGTAGTCCCTGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGATCAGCCTGGCCAACATGGTGAAACCCGGTCTCTACTAAAAATACAAAAACTAGCCGGGTGAGGTGGTGGTTGCCTGTAATCCCAGCTACTCGAGAGGCTGAGGCAGGAAAATCATTTGAACCTGGGAGGTGGACGTTGCATTGAGCTGAGATTGCTCCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTATCTCAAAAAAAAAAAATGTAGGCTGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGTCCGAGGTGGGCGGATCACGAGGTCAGGAGATCAAGACCATCTTGGCTAACACGGTGAAACCCCGTCTCTGCTAAAAAAATACAAAAAATTAGCCGGGCATGGTGGTGGGCACCTGTAGTCCCAGCTAATCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTATAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAAATGTAGGTGACTTGGTTGGGCATGGTGGCTCACACCTGTAATCCCAGTACTTTGGGAGGGTGAAGTGGGCAGATCACTTGAGCCCAGGAGTTCAGGATCAGCCTGGGCAACATGGTGAAACCCCGTCTCCACAAAAAATACAAAAATTAGACAGGCATCGTGGTGCACACCTGTAGTTCCAGCTACTCGGGAGGCTGAAGTGAGGGGATTGCTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCGGAGATTAAGCCACTTTACTCCAGCCTGGGGGACAGAGCAAGACTGTCTCAAAAAAAAAATGTAGGTGACTTAGTCCAGGTGACAATGTGCTGAGGTGACTCCATGGAAAGGATCTGGAGCAAGGCTTCCAGAATGCTCCCTTCTCCTAACTCAGTCTGGGGAGGAGTCTTAGCTTTCAACTTGGATGTGGTTTTTCTGATGGCCTAAAGTACAGTAACTGTCTTCTTGACAGGTGTCTTTGCCACCAGATTGACAATATTAGACACTTTAGGGATTGTTACAGTCACTGTTCAATGTGCCTTCCCATAAAGTTCTTTCATTCCTTTGCTCAACAAGAAAACTTGGCAAAGCTTTTAAATATAGAGGCCCTTTTTTTTTTTTTTTTTCCCGAGACAAAGTCTCACTGTGTTGCCCAGGCTGGAGTGCAGTGGAGTAATCTTAGCTCACTGCAACCTCCACCTCCCAAGCTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGTGCTCACCACCACCCCCAGCTAATTTTTGTATTTTCAGTAGAGACAGCGTTTCACCATGTTGGCCAGGCTGGTCTCGAACCTCTAGCCTCAAGTGATCCATCCACCTCTGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGTAGAGTCCCATTTTAGTTAGCATCTGCTGTGTTCTCAGTTGTACTTTAAATTTATATATATAGTTTTTATTTTTATTTTTTATTGTTTTTAGGCCGGGCGCGGTGGCTAACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGCAGGGGGATCACGAGGTCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCCGTCTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCGGGCGCCTATAATCCCAGCTATTCATGAGGCTGAGGCAGGAGAATCGCTTGAACCGGGGAGGCGGAGGTTGTAGTGAGCTGAGATCGCACCACTGCACTCTAGCCTGGGCGAAAGAGCGAGACTCCATCTCAAAAAAAAAAATTGTTTTTAACTGCCTCATCTCAGAAATTTTTCTCTTTTGAGGGGAGATCAAATATCCAGAATTCTCTAGACTGGAGCAGGGGTTTTTCAAACAACAGCAGCAGACTCACCTGTAATCTTGTCAGAAGTATGAATTATCAGTCTCCACCCTAGACTTACTGAATCAGACACTGTGGGAGTTAGGCCTAGCAGTCTGTATTTACTAGGTGATCCGGAGGCATGCTAGTTTGAAAACTGCTGGGCTAGAGAAGGTCTGCTGAGGATGTGATACATTCCTCACTAATTTAAGGATTTGACTCAGAAGCCATTTAATTAAAAGGATCTGCTGGGTCAAGGGAAAGGGGAAAAACTCATATGAATTTAATTGCCTGGTCCTTTCAAGAGTCAGAAGGTACAAATATTTATTTAGTTTGCTCACAGAGTCGAGAATTTTGAGACTAGTGGTAACTTCTTTCGCCAGTCCCTAATGACATCACGTTAGAGGGTGTGGGACAGTGTGATTAACTCTAAGTGTTTAAGGTCTTTTGCAATAGGCATCGCCACTTAAGCTGTATGTTTTTAATGAACCTGGAATTCCAGCATGCTCACTGCCCAGACGTTATTGTATTTTTGTTCACTAATTCACTGAGCATATAATGAGCACCTACTTATTGTGAGACACAAGATGAGTAAGACATGGTCCCTGTGTTTAAGGAATGTATCATTCAGTCTTAAGAAATACCCCAGAACATGACGCTTTCATATGCTCACAGATGTGTGCTTTTCTAAACATATCCAAGCTGCTACCCACAGATCTGATGTAAACCTGGCCTTGTAGTCAGAGCTCAGCTACCTTTTAGCATTATTTGGAGCTTAATTCTTTTACCTTCCCTGTCCCCATTTTTTTCCCTTTTGATATACTGTTTAGTTTACTGCTGAGATATTGCTATCTCATATGAAAATGTCTTTCAAGACCTCGTAAGTTTAAGAATGAGAGCCAGCTTCCTATTATGGTTCATTTTTGGAGAAATTCCGAATAAAGACTGATAGATGGATTCCCTTAAGGGAAATAATTATTTAAACTATTAATTTTCTAATGAAAAGAACTTAGTAAAAATGAAAATAAGAGGAACCACTTGGAAAAATGATATTTTAAAATCATAATTTATGGATTTAGGACTTTTATTTTGTGAATAATAAGTCTAAACACTAAATGCCTGTTTTGAGAAGGCAGACTCTAAGTCTTCATGATCTTTGTGCCCTTTTCATGCTGGGGTTGTTTTCCCTCTCCTATTTTTTTTTTTTTTGAGACAGAGTCTCGCTTTGTCATCCAGGCTGGAGTGCAGTGGTGCGATCTTGGCTCACTGCAACTGCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGCAGCTGTGACTATAGGTGTGTACCACCATGCCCAGCTAATTTTTGTAGTTTTAGTAGAGACGGGCGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCTGACCTCGTGATCTAGCTGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGTGTGAGCCACCGCACCCAGCCTCCCCCTCCTATTTTATTCAAAACTTTTTTTTTTTTTCCAGTCTCTGGAAGTACTTAGAGCACAAGACCGTGGCTATGAGAGGTTCTTATGCTGCTTTTGTCATCAATTCCCCTTCCATTCCCAGCAGTCTCACTGCATTGCAAGTCTCCTGGCAAGAACCTCTCTGCCTTGCCTGTTCTTGCACTAGCTCACAGCCTCAGCCAGGTTCCTTTCCATAGACCTTGCCCTGCTGCTGCGTAGCAGCAGGCTCAGGTGTCACTGCCACAACTTTGCATCTGCACATGCGCGTGCACTTCAAATAATGCGAAAGATAGGACACTTGGGACCCTCAAATGTTGGAAACTTAGGATTTTTAATGAGATTTTCTTCTGTGTCTGAAATTATAATATTTGCAAAGGGCCTAAAACACTACCAGTTTTAAACCCCTTATTTTGTGTAATTTGGTGACTATAATCAATAATTCACAGTAATGAGTTAGCAGAAATGGCTAAATCAGAAAATGATTCTATATTTAGGCATAGGAGTTATGATTGGCAGGGTGTGTGTAAGGTGAAAAATAAACATATTGAATAGTCTTATGATTAAAGATGATTACAAATTTGACTTAGTCATTTCTTATCTAGGGCATTTAAAATGACTTGTTAATGATTATCCTTTTCTAAGTCTTCTTGCTTATGAAGAACTGTAAGAGCTGGAGAGATTTCTCTGCATCTTTTACCATAAGCACCATAACATATGAGAACATAAAGAAGACTGGAAAAGTAATGGTTAATGGCATGCAGATTCCCTGCTTTCCTTTCCTTCTCAGTTTTCCATCCATCTGCTTTCTTTATTTTTTTCCCATCTGCCATTTCCTTTGGGGCCTAGGTGAATACCTTAAGTAATGAAATATAATTTTTTTCTCGATGTAGATGGCAGTAATTGTTTGTTCTTGGTAATTGACATAGCTTGAACTGGATGTGCTATTTATACTTAATTGCTGTAGAAACAGAACTGAAGTTCTTCTACTTCCTTTTTGTAAGGCGTGGTTTTCAGTATCTGAATGGAGAAACCAGAGGGCATAGCAGTAATGTAGAGGCATATTCACAATGTTGTTATTAGAGAACCCAGATACCCTTAAGACAAGCTTGTCCAGCCCATGGCCTTCAGGCCTCAGGACAGCTTTGAATGTGGCCCAACACAAATTCGTAAACTTTCTCAAAACATTATGAGATTTTTTTGGAATTTTTTTTTTTAGCTCATTAGTTATCATTATAGTGTATTTTATGTGTGGCCCAAGACAGTTCTTCTTCCAATGTGGCCCAGGGAAGCCAAAAGATCAGACACCCCTGCTCTAAGATTTAGATACTTTCAACCACATGGTTTTAGATACTGCTTTAAAGGCCTTCAGTTAGTGAGTGGTTCTAGTCATCCTAGTTTCTCACCAGGCACAATTTTACTTAAAAATTTGTAACTTTTCTCTCTAAGATAGAATTCTTAAGTATGAAGTGGTGAAATTAGCAATTCAAATATTATCGCAAGTTTCTGTTGAATTTTAATTTTGTTGTTTTTTATTCTCAGAGAGTCCTAGATAGAGTCTTTGAAGTGGTCTAGTTGCTAAGTACTGTTTGCTTTTCCATCAGTTAGAGCACATGTGTTTGCATTGAGTCCGATATTTAGGGTTGACTTAAACCACGTCTTGTGAGACAGGCAGGCAAGTAGGATGGAGTCTTGTGAGTAGTCAGGCTCACTGGTTTTTGCCAAGGGATAAACCAAGAACAAGTTGAAATGTTGTAATCATCGGGATCCTGAAAACAAGTTGCTTGTAGTCAGCTGATTTGATTGCAAGTAGAAACCGAAAGAACCCCCTCAACTTACATGTAACAGCCAGTGGTAACTAGTGTCTCCATGATCTCATCTTAAACTTTTCCAATCTCATGACAGTATTTCTCTGCACTTCTGGTGTTGATCCTTACTTCCCAAAATGATTGCTTTCTATTTTTTAGGCCTTCAGACTTATCATCTGGTTTATACACAGTTTTTCCCCCTTTTTGCTATGTTTATGATCCCATGACTTTATCAAGTTATGGTCCCTGTGCCACTTTTTAAGAGTGTGGCTGACAGGGGTAGAATCAAATTGAAATTTGGAATGAAAATGATAGAGAAAAACTCTTCTGATTTTTTGTCTTATTGTGCTTTTGAAGAGGATGATTGTTCTGGTTTACTCCTAGTTTTTGGTCAAACAAGTATTGCCTGGGTATTAGAGTTGGGGAGATGAGGCAATGGAGAAGTTGATTGGACTGGTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTTTGGAGCAGCTTCTCCTTTCTGATGGGAGTAAAGGGTGGTAGGATGAGTTCGGTAGAGAGAGGCTAGGAAATGTAGACCTGCGTGTGGGAAGATCCTTCTTCATTTCATTGTATAAACTGTCATGGTGGAAGTCATTTTAAATCTTACCAATTAAACCAGCCCATGAACTCTAGTTTGGTTTATTATCTGTTGTTTTTCCTTCACTTTACTTGATTCTTGAGCTGTGTTCTCAAGAATCCTACAACTGTAAAGCCTATGTGAACTTATTTAGAAGATTCCTAGTCAGAAAATGGGACATTCAGATATGTTTTTACAGGCCTGCCCAGCTATTGTGCTTCTTATCCTTTTGAAGACATAAATACTCTTTAAATCCCATGGCTTGGATCATTCTATAAGTGGCCATGCTGAAAGTTCTCATATTCTGAATTTTAAAGGGGCTGGAAACGTAGATACCTGGAGCTTCCCCTTCTGTCTTTCTCCAGACTTCACAGCATTCAAAGACAGTGGCAGTGCCTTGCTTCTTCCTTGGAAAGAGAGCCTCTATCTTTCACATTCTCACGTAGGGAAAATTCTAGTTTGTAGCTGCCTAGAAATTAAATGTTCAGAGTATCTGCAGAGTCTCTTCATTATTGCACAGAAAGAAGAGATATTTTAGCTTCCTATCTACATGCAGAGGTATTTCCTGGCACTTTCATCATTCATTCAGGGAAACGTAGGAGAGAAAATGGCTTCCACCAAGTAACAGATTTATACATGTCACCATCACTTAATTTTTTTTCCTTTTGCTCCTTATTTCTAAAACCATTTCCCCAGATGCTTTACTGGGGCAATTATGCTTTCTTTACCTCAAATTTATTTTCTGTGTTTTCATCCCCTATTCTTCTTGTCTTTTTATGGATATATCTTGTCTTTTCGTGGTTTGTTTTCTTTTTCATCCTTATTTTCTGAACCTGTCTCCTGGTTCCTCGTTGCCTGCATGCCACTAACTATTTTCATTAGATATTAATTGATTTGTGAATTCAG
Seq C2 exon
GCTGAATTGCATCATCAGCAGATGGCGGATCCAGACTTGTTGGAAGAGTCCTCATCCCTCTTGGAGCCAAGTGAGATGGGAAGAGGCACTCCTTTAAGACTTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000033627-ATP6V0A1:NM_001130020:5
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.237
Domain overlap (PFAM):
C1:
PF0149614=V_ATPase_I=PD(29.5=93.9)
A:
NA
C2:
PF0149614=V_ATPase_I=FE(4.2=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:
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)