HsaINT0180188 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218438658-218440862:+
Coord C1 exon
chr2:218438658-218438726
Coord A exon
chr2:218438727-218440721
Coord C2 exon
chr2:218440722-218440862
Length
1995 bp
Sequences
Splice sites
5' ss Seq
GCTGTGAGT
5' ss Score
7.39
3' ss Seq
GGTTTCCTTTTCTTTCCTAGGAG
3' ss Score
9.77
Exon sequences
Seq C1 exon
AACACCAAATCCTATGAGGACCTGAAGGCGGAGCTTGGCAACTCTAGGGACTGGAGCCAGATCACTGCT
Seq A exon
GTGAGTCCGGGGCGGGGTGGCTGGGCCCTGCAGTGGCCAGCTGGTGGTCAGACCTGTGGGAGCCAAGAACGCTGCAGAGAAGACACCAGAGTCCTGTGCTTTCCCTCCTATTTCTCCCCCACTTCTCATTCTTCTTGCTGTTTTACTTCAGTGCCTCTAGTGGTTTTGTTTCCTCAATTTCCTAGTGAAATGGTTCTCAATTTTTTTTTTTTTTTTTTTTTTGAGACACAGTTTCACTCTGCCTCCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGTGATTCTCATGCCTCAACCTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGTCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCAGCCTCGGCCTCCCAAAGTGCTAGGATTGCAGGCATGAGCCACCACACCTGGCCTGGTTCTCAAATTTTATCATGCATAGAAGTCGGGGAGATGGGGGCAGGGAGTGAGGGGGAAGCATATTAAAATGCAGATTCCAAGGCCCCATTCCCAAATATTCTGGTTTATAGACTTAGAATTGGCACCTAGGAATCTGCATCTTTTAAATCTTATTTTAAAAAGGTAATTTCATGTAGTTAGTCCATGGACTACACTTTGAGAAATAATGCTGTCTCTATACTCCATCACCTTTGGGATCCCTTCTCTAGGTAGAATAACTACAACTCCTTTGGTCTTTCAGTGAGTTAACAGAAGTGTATTTAGGCTGGGCACAGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCGAGGTGGGTGGATTGCTTGAGCCCAGGAGTTTGAGACTAGTCTTCGTAACATGGGGAAACCCCATCTTTACAAAAAATAAAAAACAGCCAGGTGTGGTGGTGCGTGCTTGTGGTCCCAGCTACTCAGGAGGCTGAGGTGGGAGGTTGGTTTGAACCCAGGAGGCAGAGGTTGCAGTTAGCTGAAATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGTCAGACCCTGTCTCAAAAAAAAAAAAAAAAAAAAACCCGAAAAAAGAAAAGAAAAAAAATGTATTTAGCCTTTAGGCCTGGGACACGGGAATATGAAATCAAAACCTTTGCTTTGAGAAGTTCACAGGCTTATAGAGAGAACAAGACAGAGCTAACTCTGAGGAATGTGTCCAGAATTCAAGAGCAAGTTCACAAGCACACTGGGGTATAATCAACAGATGGTCAAAACCTGCAGCACTCATGAAACCCTTCTTGGTGGACTGACAGTACAGACTGGCATGTATAGATAGGTCAAGGTTAAGTGAATTTATAGATGACAATTTCACAACAGATAAGAGAGACAGGGTCATAAATATCCAGGCTAGATCTCCAACTCTGGGGAAAGCCATGGGAAAGTTAATGAATCGTTAAAGAAAAGAGTCATTTTCCACCAATGGACTTCGGTCAGAACAGACCACTAAGCTCTATGTTGTTGTTGTTGTTGTTTTGAGGAGTCTCTCTCTGTTGCCCAGGCTGAAGTGCAGTGGCGCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCAAACGATTCTCCTACCTCAGCCTCCTGAGTAGATGGGATTACAGGCGCCTGACACCACACCTGGCTAAGTTTTGTATTTTTAGTAGAGATGCGGTTTCACCATGTTAGACAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCAGCCTATGTTGTTCTTATGAGTGTGTGTGTGGCAGGGTGGGGTGGGACATGGGAGGCTTCTTGAAGGTGGTGCCCTAGAGACTTCAGAGAGAAAGGCAGCCTGGGAGGTAGCTGTGCACCAGCTAAAGTAACCAGTGGTTTCCTTTTCTTTCCTAG
Seq C2 exon
GAGGTCACAAGCCCCAAAGTGGACGTGTTCAATGCTAACAGCAACCTCAGTTCTGGGCCTCTGCCCATCTTCCCCCTGGAGCAGCTAGTGAACAAGCCTGTAGAGGAGCTCCCCGAGGGTGTGGACCCCAGCAGGAAGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.043 A=NA C2=0.319
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
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:
TCCTATGAGGACCTGAAGGCG
R:
CTTCCTGCTGGGGTCCACA
Band lengths:
198-2193
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