HsaINT1046448 @ hg38
Intron Retention
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114288938-114290365:+
Coord C1 exon
chr10:114288938-114289489
Coord A exon
chr10:114289490-114290239
Coord C2 exon
chr10:114290240-114290365
Length
750 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
3' ss Seq
TATGGTGTTCTCCATTGTAGAAG
3' ss Score
9.04
Exon sequences
Seq C1 exon
GGTGCCGGACACAAGCCCTGGACCTCGTCTTCATGTTGGACACCTCTGCCTCAGTAGGGCCCGAGAATTTTGCTCAGATGCAGAGCTTTGTGAGAAGCTGTGCCCTCCAGTTTGAGGTGAACCCTGACGTGACACAGGTCGGCCTGGTGGTGTATGGCAGCCAGGTGCAGACTGCCTTCGGGCTGGACACCAAACCCACCCGGGCTGCGATGCTGCGGGCCATTAGCCAGGCCCCCTACCTAGGTGGGGTGGGCTCAGCCGGCACCGCCCTGCTGCACATCTATGACAAAGTGATGACCGTCCAGAGGGGTGCCCGGCCTGGTGTCCCCAAAGCTGTGGTGGTGCTCACAGGCGGGAGAGGCGCAGAGGATGCAGCCGTTCCTGCCCAGAAGCTGAGGAACAATGGCATCTCTGTCTTGGTCGTGGGCGTGGGGCCTGTCCTAAGTGAGGGTCTGCGGAGGCTTGCAGGTCCCCGGGATTCCCTGATCCACGTGGCAGCTTACGCCGACCTGCGGTACCACCAGGACGTGCTCATTGAGTGGCTGTGTGGAG
Seq A exon
GTGAGTGGGGGAATCCACACCCTCAGGGCTGCCCCCATGGCAGGCCCTCAGCCTGAGCCTTCACATACATCATGACGAGGATGGCAGCTCTTCCCAGCTACTGAGCACTTGCTTCCCAAGTGCCAGGTTCTGTGCTAAACCCCATGCTCACATAAAATCCTACAGTAGGCATAACCATCCTATTTGACATTTAAGGTACAGAAAGTTTAACTAACATAGATAACTCCCCCCAAACTTGAGAATTTATGCATTCCCTTTAAACAGAACACACTTTTAGAATATCCACAAGCTTCCTAAGGGTCTAAAGATCCCACATTCACACTGACTTGGGCAGTGACAGAGCCCAGAGCAAACAGGGCCAGGCCAGCCCAAATCCAGTGACCTCCTCTTCACCTTCTTAAAAGAGACAGGAGAATCACTTGAACCCGGGAGGTGGAGGTTGTGGTGAGCCAAGATCGCGCCATTGTACTCCAGCCTGGGCAACAAGAGCAAGATTCTGCCTCAAAAAAAAAAAAAAAAAAGTCTGCCATGTGTATGGCACGTCTGAGCAATGGACTCTCCATGAGTCTGTAGGAGAGCTGGGTCTTACTAACCTAGCCAAGTGGTATGCAGCACCAACCATGAGCTACCGGGGCAAAGGGAGACATGACTCTAGTAGCCTTGCACCTCTACTGGGCTTACTTAGGGTAGGGGTCTTCGGGTCTAACCCATGCCTGGCCGGCCTGGTGGGTATGGTGTTCTCCATTGTAG
Seq C2 exon
AAGCCAAGCAGCCAGTCAACCTCTGCAAACCCAGCCCGTGCATGAATGAGGGCAGCTGCGTCCTGCAGAATGGGAGCTACCGCTGCAAGTGTCGGGATGGCTGGGAGGGCCCCCACTGCGAGAACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816:ENST00000392982:12
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.021 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0009223=VWA=WD(100=93.0)
A:
NA
C2:
PF0000822=EGF=WD(100=72.1)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTGATGACCGTCCAGAGGG
R:
GTAGCTCCCATTCTGCAGGAC
Band lengths:
344-1094
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains