HsaINT0179946 @ hg38
Intron Retention
Gene
ENSG00000160293 | VAV2
Description
vav guanine nucleotide exchange factor 2 [Source:HGNC Symbol;Acc:HGNC:12658]
Coordinates
chr9:133769417-133770501:-
Coord C1 exon
chr9:133770378-133770501
Coord A exon
chr9:133769504-133770377
Coord C2 exon
chr9:133769417-133769503
Length
874 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACG
5' ss Score
10.52
3' ss Seq
TCTCTCTCGCCTCTTTGCAGCTT
3' ss Score
10.46
Exon sequences
Seq C1 exon
GAGTTGGTGGAGTACTACCAGTGCCACTCACTGAAGGAGAGCTTCAAGCAGCTGGACACCACACTCAAGTACCCCTACAAGTCCCGGGAACGTTCGGCCTCCAGGGCCTCCAGCCGGTCCCCAG
Seq A exon
GTAACGCCCCGGCCCAGCCGGCACACCAGCACTCCTCGGAGGGGTCTGCCCTGGCCCACTTCCCAGGGCTCAGATCCTGCCCTCACAGACCCAGACCAGGAGTCCCACCCTGGGGAACACAGCCCCCGCCCCTCCCCCAGCCATCGCAGATGCTGTCATGTGGCATCTCCTGGGCCATGTGACAGGCGGGGACTCTGCACCTGCTCAGAATTGCTACTCTGTGTCTTGGCTTCTTCACCCAGAGACCAGTGGGGGTTGGAGGGGCCAGGTCCAGGCAGAGACCCCTGCGCATGGAGCTGTCACAGGTGGGAGAGAAAAGGGCAGGCCCACCTGTTCCCAGATCCCTCCCTGTGCCCAGCCCCTGGGCCTCCTCTGTGAGAGGCAGCCTGTTTGCAGGTTGGACTCCACAGCTCAGAACAGGGAAGGCCACACGGAATCAGGGGCAGGGGCAGGCCCCGAGCATGCGGCTTCCCGCTCAGGACTCTCTCCAGAGTCACCCCACGTCCTCCAGCCTGCAGGGTCCTGCAGGGCCATGGGTCTCACACAGGCCGAGCTGGACAGGAGAGGAACAGCTGGCCTTAGTGAGCACCTGCTATGTGCCAGGCGAGGGCATGAGAGGAGGTGGTCCCAATTTGCTCTCGAGTACACGGGTGCATAGAGTGGTTCCAGGGTAGCTCAGGTGTGGCCGAGTGGCACCTGTGCCTGGGTGGGGCTTGACAACCCGTGCTGCCCCCTGCCTCCTTTGCCCCCCTGTAGGGCCTCTCCTGCCAAAGGGCCTGCCCCACCCCATGCCCCCCGGCCTGTAGCTGTGCCCACCGTGACTGTGCGTGGATGCCCTGCTGCCCGCCTCACGTTCTCTCTCGCCTCTTTGCAG
Seq C2 exon
CTTCCTGTGCTTCCTACAACTTTTCTTTTCTCAGTCCTCAGGGCCTCAGCTTTGCTTCTCAGGGCCCCTCCGCTCCCTTCTGGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000160293:ENST00000371850:27
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.030 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0001719=SH2=PD(6.7=11.9)
A:
NA
C2:
NO
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:
GGTGGAGTACTACCAGTGCCA
R:
CTGACCAGAAGGGAGCGGAG
Band lengths:
206-1080
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains