HsaINT0180197 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218429849-218430878:+
Coord C1 exon
chr2:218429849-218429947
Coord A exon
chr2:218429948-218430724
Coord C2 exon
chr2:218430725-218430878
Length
777 bp
Sequences
Splice sites
5' ss Seq
CTGGTAGTG
5' ss Score
0.67
3' ss Seq
GCCACCCCTTTCTCTTCCAGAAC
3' ss Score
11.38
Exon sequences
Seq C1 exon
GACTGTTACATCCTGGACCAGGGGGGCCTGAAGATCTACGTGTGGAAAGGGAAGAAAGCCAATGAGCAGGAGAAGAAGGGAGCCATGAGCCATGCGCTG
Seq A exon
GTAGTGGTGGGGGCGGGGGAGGGTCCAGGAGGAGGGCAGAGTGATGGGAGGGAGAGAGCAGATAGCAGCATGGGGTGGGCAGGCAGGCTCAGACCAGGGCATAGTGCCAGGCAGAGGCAGGGAAGGCTGGGAGGAGCAGGATGAGGGCTGGGCCCGGCCCAATGGGAGGGGCCTGAGGGGCCATTCTGTGGTCATCTTCGGGGTTCTCTGCACACCAGGGAGCCAACCACCAGGCAACCCTGGGGCCACCTCAGGATGTGGGCTCTCACCTCCCTGCACCTGAGCTGAGTTTGGAGAAGGGAAGGAGAAATGGAGGGAGGCTGGCTTCCTACAAAAGGGGATTGGGTCAGCTCAGACCAGGGCCAAGTCAGAGTTTGGGGTCATTGCTGGGGCTGGAGTCGTAACCCTAACTGGCTTGGGGCCAGTGTTGGATTGGGGACTGGGCATTAGGATTAGCATTGAGGTAGGGTCACATTAGGCGTTAGATTTGGCTTTGGGATTGGGGTCAGAGTTGTGTTTCGGTATTAGATTTGAAGCTGAGGTCAGAGTGAGTCTTGAGGCCAGTGTTAGGTTTCAGGCGGTATCAGATTTGACCTTGAGGCTGGGGTCAGAGTAGGGTTAGGTTGGGGATTAGCATTGGGATTGGGTTTGGGTTCAGTTTTGGTGCCGGGGTAGATCTGATGGTGGATCTGGTTAGGTTAGAGCTAGGTTTTGGCTTGCATTGGGAGTGGGGACTAGGGGAGGTGCATAGCTTCCAGCCACCCCTTTCTCTTCCAG
Seq C2 exon
AACTTCATCAAAGCCAAGCAGTACCCACCAAGCACACAGGTGGAGGTGCAGAATGATGGGGCTGAGTCGGCCGTCTTTCAGCAGCTCTTCCAGAAGTGGACAGCGTCCAACCGGACCTCAGGCCTAGGCAAAACCCACACTGTGGGCTCCGTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.028 A=NA C2=0.134
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=FE(41.0=100)
A:
NA
C2:
PF0062617=Gelsolin=PD(33.3=50.0)
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:
GACTGTTACATCCTGGACCAG
R:
CACGGAGCCCACAGTGTG
Band lengths:
252-1029
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains