HsaINT0180182 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218432046-218432951:+
Coord C1 exon
chr2:218432046-218432183
Coord A exon
chr2:218432184-218432792
Coord C2 exon
chr2:218432793-218432951
Length
609 bp
Sequences
Splice sites
5' ss Seq
CAGGTCAGG
5' ss Score
7.2
3' ss Seq
TCCCTCCTGCTCATCCCCAGGGC
3' ss Score
10.03
Exon sequences
Seq C1 exon
GTGTGGCGCATTGAGAACCTAGAGCTGGTACCTGTGGATTCCAAGTGGCTAGGCCACTTCTATGGGGGCGACTGCTACCTGCTGCTCTACACCTACCTCATCGGCGAGAAGCAGCATTACCTGCTCTACGTTTGGCAG
Seq A exon
GTCAGGTCCCGCCACGTCCCACCCAGAGCACAGCCGGCTTAGCTCTGCCTTGTACATACTCCTGCTAAGTGGCCATCACCCTTGGGTTGAATACCTCTGGGGATGGGGTGCTCACCCCTTCAAGAAGGACTGCTTTGGCTATGAGGTCCCGCTAGTACCCCCATTCACAGCCCTTTTCCTTTTGGTTCTCTGAGTCTCCCTTCCAATTTTCATTGCCTTCTGCACATTCTTGTCACCTGCTCTGCCCATGGGTTTTTGTGTCTAGATGCGAGGGAGCAGGGAGTGTGTCTAGGACTGAGTGGTGTGGTGCCTGTGATGTCTCCCTGAAGAAGGAGCAGAAAGGAAAGGAGGAGGTTTGGGGTTAAGGCTGGGGTTGCAGGTAGGTCAGGGCTGGGCTGGGTCTGGGAAAGAATTAGGTTTGAGGTTGAGATCAGAACTGAGGTATGGTTCAGATTGGGGTTTTGGCTGTTTCACAGTGGAGTTTGGTGGGGAAGACAATTGGGTTTAGGACCAGTTCAGACTTGAGGATGGAGTTGTTGCTGAGGCTGAGGATGGGGTCAGAATTGGGGGCTGACCCAATCCCACTCACTCCCTCCTGCTCATCCCCAG
Seq C2 exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:12
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=0.063
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(48.2=87.0)
A:
NA
C2:
PF0062617=Gelsolin=PD(49.4=77.4)
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:
GTGTGGCGCATTGAGAACCTA
R:
GTAGACCACCATGCGTCCCTT
Band lengths:
294-903
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains