HsaINT0180183 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218432793-218434705:+
Coord C1 exon
chr2:218432793-218432951
Coord A exon
chr2:218432952-218434525
Coord C2 exon
chr2:218434526-218434705
Length
1574 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
3' ss Seq
TCTTCTGCCCTCACCTGCAGGGA
3' ss Score
12.08
Exon sequences
Seq C1 exon
GGCAGCCAGGCCAGCCAAGATGAAATTACAGCATCAGCTTATCAAGCCGTCATCCTGGACCAGAAGTACAATGGTGAACCAGTCCAGATCCGGGTCCCAATGGGCAAGGAGCCACCTCATCTTATGTCCATCTTCAAGGGACGCATGGTGGTCTACCAG
Seq A exon
GTGTGGCTGCTGAACTGAGGTGTCTGGCAGTAACCACTGTGGCAAGACAGGCATCCGGGAGATGGAGAAGGGGATGGGTGGTGGGAGCAGGGCTTGAGGTGAAGCCCATTCTTCATAGGAGACTACCCTGGAGGTTCTATCACCTATGTGGAACTGGTAATAGAAACAACCCATTTGGTTACTTTAGAAATACGTGTAATTGGGCCGGGCATGGTGGCTCACGCCTGCAATCCCAGCACTTTGGGGGGCTGAGGCGGGTGGATCACCTGAAGTCAAGAGTTCAAGACCAGCTTGACCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCCAGGCATGATGGTGGGTGCCTGTAATCTCAGCTACTCAGGAGGCTGAGGCAGAAGAATCTCTTCAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCAATGCACTCCAGCCTGGGCAACAGAGGGAGACTCCATCTTTAAAAAAAGAAAAAAAAAAAATGCCGGTTGCGGTGGCTCTCACCTGTAATCCCAGCACTTTGAGAGGCTGAGGTGGGTGGATCACCTGAGGTCAGTAGTTCAAAATGAGGGCATGCAATGCAGGGGGCACAGCAAGGACAAGGGCCTGGGGGAGAGGCTCCCTGGGGAACATCAGAAGCCTGGTGGAACTGGCCAGGCATGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCAGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACATGGCAAAACTCTGTCTCTACTAAAAATACAAAAATTAGCCAAACGTGGTAGTGCACACTTGTAATCCCAGCTACTGGGGAGGCTGGGGCAGGAGAATGGCTTGAACCTGGGAGACGCTGAGTCAGGATCACACCATTGCACTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAGGAAAAAAAAAAAAAGGCTAGGCGCTGTGGCTCACAACTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCTCCTGAGGTTGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCCCGTCTCTACTAAAAATATAAAAATTAGCCGGGCGTGGCAGTGGGTGCCTACAATCCCAGCTACCCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCCAGGAGGCAGAGGGTGCAGTGAGCTGAGATAGTGCCATTGCACTCCAGCCTGGGGAACAAGAGCAAAACTCCGTCTCAAAAAAAAAAAAAAAGCCTGGCAGAGCTAGCTGGAGGGTTTGATGGCAGCAGTGTCTGCAAAGGCAGTTTGCATCTTCGTCATGTGGGGCCTTCAAAGGCAAAGCTGAGGAGCTGGGCTTTAGGCTAGAAGCAATGGGGAGTCACTGAACATTTTTGAAAAGAGAAACGCTGTGATGCAAACAATGTTTTAGAAAGACCTGGTGACGGAGCATCAGAGGAGCTCAGGGGCAAACCTCCCCGCCCTACCCTATCCCCCTCTGTTCCCCATCATCTTCTTTACTAAGTGACTCCTGACTCTCTCTCCCTGTCTTCTGCCCTCACCTGCAG
Seq C2 exon
GGAGGCACCTCCCGAACTAACAACTTGGAGACCGGGCCCTCCACACGGCTGTTCCAGGTCCAGGGAACTGGCGCCAACAACACCAAGGCCTTTGAGGTCCCAGCGCGGGCCAATTTCCTCAATTCCAATGATGTCTTTGTCCTCAAGACCCAGTCTTGCTGCTATCTATGGTGTGGGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.063 A=NA C2=0.172
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(49.4=77.4)
A:
NA
C2:
PF0062617=Gelsolin=PU(48.6=56.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCAGGCCAGCCAAGATGAAAT
R:
CTTCCCACACCATAGATAGCAGC
Band lengths:
334-1908
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains