HsaINT0180180 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218430725-218431957:+
Coord C1 exon
chr2:218430725-218430878
Coord A exon
chr2:218430879-218431856
Coord C2 exon
chr2:218431857-218431957
Length
978 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGG
5' ss Score
6.74
3' ss Seq
CATGATTTCCCCCACTCTAGCCA
3' ss Score
5.98
Exon sequences
Seq C1 exon
AACTTCATCAAAGCCAAGCAGTACCCACCAAGCACACAGGTGGAGGTGCAGAATGATGGGGCTGAGTCGGCCGTCTTTCAGCAGCTCTTCCAGAAGTGGACAGCGTCCAACCGGACCTCAGGCCTAGGCAAAACCCACACTGTGGGCTCCGTGG
Seq A exon
GTGAGGGCCAGGCGGGGGCAGTGAGGGAGCCAGGATCCAGGAGCTGGGCCAGGAGAGCCACTTGGTCCACCACCCACCCTCCTTCCCTGACGTGCATCTTCAACGAAGACTTTTACGCTGGCTCTGGGCTTGTCCTAGCAGATGGGGACGTGGACAAACTCTAGTTGTCACAAAAAGGGAGCTGAGAGGGCTGGGCATGGTGGCACATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGATTAGCCTAACATGGTGAAACCCCGTCTCTACTGAAAAAAAGAACTAATAAATTAGCCAAGCATGGTGGTGCATGCCTGTAACCCCAGCTACTCAGAAGGCTGAGGCTGGAGAATCGCTTGAATTCAGGAGGCAGAGGCTGCAGTGAGCCAAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAGGGGAGCTGTCAGTGATGTGATATTTCATTTGGGATGGGGTTGGGCCTCCCTGAAAACCGAACAGCTTCAGTCTCTTACCAGCCAGTATTTGCTGAGGGCAAGCTCGGTGCCCAGCACCTAGGAGAGGACAAGTAATAGTGTACAGCCCCCAACATTGCACAGCTCCCTATTGAGCTGGGAGACAAGGTCAAGGCTTGAAGTCTGAATGCTGCAGGGGTCAGGACGTAGATCAACAAAGCTAAAGCCTTGCTCTTATGCCTCTCCTGGCTCCCTGGGAGCAGGAGTTTTAGAGGGAGGGAGATGTGGTTCTCTATTGTAGCTCTGCCACATTCTGTGCAACCAGGTAAGCTACTGAATCTCTCTTGCCTCGGTTTCCTCATCTGAAAATGAGTCTAAGAATTGTAGCCACCATTCAGGGCTGTTGTGAGGACCTGGGAGACCTCAGCTGGTGACAGTTGGTTTCATGATTTCCCCCACTCTAG
Seq C2 exon
CCAAAGTGGAACAGGTGAAGTTCGATGCCACATCCATGCATGTCAAGCCTCAGGTGGCTGCCCAGCAGAAGATGGTAGATGATGGGAGTGGGGAAGTGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.134 A=NA C2=0.029
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(33.3=50.0)
A:
NA
C2:
NO
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTCATCAAAGCCAAGCAGT
R:
CTGCACTTCCCCACTCCCATC
Band lengths:
254-1232
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains