HsaINT0180196 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218429597-218429947:+
Coord C1 exon
chr2:218429597-218429675
Coord A exon
chr2:218429676-218429848
Coord C2 exon
chr2:218429849-218429947
Length
173 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGA
5' ss Score
10.06
3' ss Seq
CTTACCTCTCCCGACTCTAGGAC
3' ss Score
10.85
Exon sequences
Seq C1 exon
TGTGTCTGACTCCGAGGGGAATCTGGTGGTGAGGGAAGTCGCCACACGGCCACTGACACAGGACCTGCTCAGTCACGAG
Seq A exon
GTAAGAGGGTCTGGAGACCCCTCAGCCTACTGCAGCCTGGCCCCCTTTCCCTCAAGCAGGAAAAATTCCAGGGGGCTTGGGGTGGGCCTGGGAGGGAGAGACTTTTTTGTGTGTGAGGCTTTCCCAGTCCAGCACCTCCAGCTCCATCAGACTCTTACCTCTCCCGACTCTAG
Seq C2 exon
GACTGTTACATCCTGGACCAGGGGGGCCTGAAGATCTACGTGTGGAAAGGGAAGAAAGCCAATGAGCAGGAGAAGAAGGGAGCCATGAGCCATGCGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:8
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=0.028
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(21.8=63.0)
A:
NA
C2:
PF0062617=Gelsolin=FE(41.0=100)
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:
TGTCTGACTCCGAGGGGAATC
R:
ATGGCTCATGGCTCCCTTCTT
Band lengths:
170-343
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains