HsaINT0180186 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218436482-218437312:+
Coord C1 exon
chr2:218436482-218436626
Coord A exon
chr2:218436627-218437123
Coord C2 exon
chr2:218437124-218437312
Length
497 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
TCCCCTGGGTTTCTCAATAGGTC
3' ss Score
10.57
Exon sequences
Seq C1 exon
ACTACAGGAAGAAAACCTGGTCATCACCCCCCGGCTCTTTGAGTGTTCCAACAAGACTGGGCGCTTCCTGGCCACAGAGATCCCTGACTTCAATCAGGATGACTTGGAAGAGGATGATGTGTTCCTACTAGATGTCTGGGACCAG
Seq A exon
GTAGGACCAAGGGCCTGGGGACCCCTCTTCCCAGCCACCTCAATCCCCAGGGCCAAGAAAGAGTGGCTTTAAGGTTAGGTAAGTGTCAATGTTTTCTTGGCCCTTACATAATTTCTCCCTGGAAATGGTATGAACACCAGAAGTGTAAGAAAGAAGGAAGGTGGGGAGGAACATGCTCAGAGGGGCTGCAGGGAAGAACGTATTCTCTCCCAAAGTCCTATTTATTTCACATGGCAGCAGGAGTGTTTTTGAGAATCCTGGGCTTTGGACAGTCTGGGAGACACACATTTGCAGAATATCCAAGTACAAGGCATCTGTCCAACCTTCTAATTTCCCAGATACAAATTCAAGGCCAGATGATGCCTGCCCTAGGTCATTTGGCTGGTAGTGGTAGAGTCAGGGTCAAGGTCAGGGTTTCACTGTTGGACAACTGAGGCAGAGCCCTGTGGGCCAGGGAGGACAGGAAGGATGGACTGATCCCCTGGGTTTCTCAATAG
Seq C2 exon
GTCTTCTTCTGGATTGGGAAACATGCCAACGAGGAGGAGAAGAAGGCCGCAGCAACCACTGCACAGGAATACCTCAAGACCCATCCCAGCGGGCGTGACCCTGAGACCCCCATCATTGTGGTGAAGCAGGGACACGAGCCCCCCACCTTCACAGGCTGGTTCCTGGCTTGGGATCCCTTCAAGTGGAGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:16
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=0.413
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(34.2=55.1)
A:
NA
C2:
PF0062617=Gelsolin=PD(63.3=79.4)
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:
AAGAAAACCTGGTCATCACCCC
R:
ACTCCACTTGAAGGGATCCCA
Band lengths:
326-823
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains