HsaINT0180184 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218434526-218435434:+
Coord C1 exon
chr2:218434526-218434705
Coord A exon
chr2:218434706-218435288
Coord C2 exon
chr2:218435289-218435434
Length
583 bp
Sequences
Splice sites
5' ss Seq
AAGGTGTGT
5' ss Score
6.64
3' ss Seq
CCAACTCTTTTTTTTCCTAGGGT
3' ss Score
8.72
Exon sequences
Seq C1 exon
GGAGGCACCTCCCGAACTAACAACTTGGAGACCGGGCCCTCCACACGGCTGTTCCAGGTCCAGGGAACTGGCGCCAACAACACCAAGGCCTTTGAGGTCCCAGCGCGGGCCAATTTCCTCAATTCCAATGATGTCTTTGTCCTCAAGACCCAGTCTTGCTGCTATCTATGGTGTGGGAAG
Seq A exon
GTGTGTTCAGGGTCTAGAGGCCTCCCCATCCGCAAGTGGGTCCTGGGAGTCCCCCAGTTTCGCAGCAGCCCTAGGTCAGGGCAGGAACCCCTGGCCAACTAAGTTGTGCCTGCTCAATTCTCAGCCGCCTCTGGAGCCCAGTCTCTCCCTCCTCAGTAGCTCTGGGTCTATCCTTCTGCCTCATCAATGACCATCCTCAGATTCTCTGCCTCTCTGTCGGAGTCAGTCTCTCTTGTTCTGTTTCTCTGGCCACCTCCATCTGTCCCTGTGTTGGTCTGTCTTTATGTCTTGGGCTCTCTCTCACTACCCTGAGCCTGTCACTGCCTCTCCTTTGATCTCTGTAAGAAGAATGCATAGCCTCTTGGAGTCCCTCTCGAACCTTGAAAAGACTCTCTAGTTTCTTCTGCTATTCTTTGGAGTGTCAAGGACAGAAGAAAGCATGGAATTGTCCCTGTGTGGCCTGTATACACAAGGTCCTGACCCAGGAGAGCCCTCTTTGACCCCTGAACTCTGGGCAGTGAATGTAGTAGGAGGGTGGAGGTAGGGGTGGCACTAGAAATTAGCCAACTCTTTTTTTTCCTAG
Seq C2 exon
GGTTGTAGCGGGGACGAGCGGGAGATGGCCAAGATGGTTGCTGACACCATCTCCCGGACGGAGAAGCAAGTGGTGGTGGAAGGGCAGGAGCCAGCCAACTTCTGGATGGCCCTGGGTGGGAAGGCCCCCTATGCCAACACCAAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.172 A=NA C2=0.068
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(48.6=56.7)
A:
NA
C2:
PF0062617=Gelsolin=PD(48.6=69.4)
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:
GGCACCTCCCGAACTAACAAC
R:
CTCTTGGTGTTGGCATAGGGG
Band lengths:
323-906
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains