HsaINT0181151 @ hg38
Intron Retention
Gene
ENSG00000165816 | VWA2
Description
von Willebrand factor A domain containing 2 [Source:HGNC Symbol;Acc:HGNC:24709]
Coordinates
chr10:114284863-114286511:+
Coord C1 exon
chr10:114284863-114284970
Coord A exon
chr10:114284971-114285938
Coord C2 exon
chr10:114285939-114286511
Length
968 bp
Sequences
Splice sites
5' ss Seq
GTGGTAGGT
5' ss Score
7.23
3' ss Seq
TGTTGCTGTGATCCCCGCAGCCC
3' ss Score
9.67
Exon sequences
Seq C1 exon
GCCCCTGTGACTCGCAGCCCTGCCAGAATGGAGGCACATGTGTTCCAGAAGGACTGGACGGCTACCAGTGCCTCTGCCCGCTGGCCTTTGGAGGGGAGGCTAACTGTG
Seq A exon
GTAGGTATGCACCGGCCCTGCAAGACTGACCACTGGGGAGCAAGAAGAGGACGGGCTCCCCTTTTCATTGCACGCCCTTCCAGCTGCTGGGTAGAAACTGGCCCTTGAACCATCTGCTTTCCAATGCACCACTGGTCTGCAGTTCACGTGGTGCAGCCTGTCAGTGCTCCGTGAGTAGATAATTGGGGTGGCTGAGCTCTGGATGAGACAGTGGCTCCCAGCTTATTAGCTGCAGAATGGTCACTGCTTGAAGTTTGAGTGCTGCCCAGCCCAGCTGAAGGCAGGAGTCCACCCAACTCTGGCTCCCAGTCCTGGGCAGAGTCTTTTCTTCTCTATTCTATGAAAGCAGAGCAAGGAGCCCCGATTCCTTTTGATTTTAGAGGTGTGAAATGAAGATGATAGTAGGCTTTACCTCACTGGGTGGTTGAGAGTTTTAAATAAGATTATGCAAAGTGCTTAGTACCATGCTTGACGCATATAAGGGCTTGATGAATAATAACTTTTAAAAACAAGTGATACTGGGTTAGTTGAAGATCTGTATGAAAACAATCTTGACCCTGTACCTCACAACCCTACCAGAAGTCAATTCTAGCGTGGCTATAGACCTCTGTGCAAAAGGCAAAGCAGTGAAGCCTGTAGAAGCAAACACAGGAGCATATATTTTCATGATCTTGAGGCAGACAAAGATTTCTCAGGACACACACAGGACTAACCATAATGGAAAAAAGTGATAATGTAGATGGCATTTTTCTTTAAAAAGTGGCTAGATGGAGACCCTTAGCGAGTGCCAGGAGTGCCATGTCTGGCCTTGTCTCTAACTCTGTGACGAGCACGGGTCACTTAAGCTTGGGGGGCCCACAGTTTCTCTGCACCATCTCCCTCCTGGGAGATGTTCGGCATCTCGGGTGGGACAGCTCGCATGCCGCATGACCATGGCTTGACAGTGGGTGTTGCTGTGATCCCCGCAG
Seq C2 exon
CCCTGAAGCTGAGCCTGGAATGCAGGGTCGACCTCCTCTTCCTGCTGGACAGCTCTGCGGGCACCACTCTGGACGGCTTCCTGCGGGCCAAAGTCTTCGTGAAGCGGTTTGTGCGGGCCGTGCTGAGCGAGGACTCTCGGGCCCGAGTGGGTGTGGCCACATACAGCAGGGAGCTGCTGGTGGCGGTGCCTGTGGGGGAGTACCAGGATGTGCCTGACCTGGTCTGGAGCCTCGATGGCATTCCCTTCCGTGGTGGCCCCACCCTGACGGGCAGTGCCTTGCGGCAGGCGGCAGAGCGTGGCTTCGGGAGCGCCACCAGGACAGGCCAGGACCGGCCACGTAGAGTGGTGGTTTTGCTCACTGAGTCACACTCCGAGGATGAGGTTGCGGGCCCAGCGCGTCACGCAAGGGCGCGAGAGCTGCTCCTGCTGGGTGTAGGCAGTGAGGCCGTGCGGGCAGAGCTGGAGGAGATCACAGGCAGCCCAAAGCATGTGATGGTCTACTCGGATCCTCAGGATCTGTTCAACCAAATCCCTGAGCTGCAGGGGAAGCTGTGCAGCCGGCAGCGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000165816:ENST00000392982:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.122
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=83.8)
A:
NA
C2:
PF0009223=VWA=WD(100=89.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGAATGGAGGCACATGTGT
R:
CCACCACGGAAGGGAATGC
Band lengths:
342-1310
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains