HsaINT0180194 @ hg38
Intron Retention
Gene
ENSG00000127831 | VIL1
Description
villin 1 [Source:HGNC Symbol;Acc:HGNC:12690]
Coordinates
chr2:218428227-218429487:+
Coord C1 exon
chr2:218428227-218428337
Coord A exon
chr2:218428338-218429284
Coord C2 exon
chr2:218429285-218429487
Length
947 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAAC
5' ss Score
4.45
3' ss Seq
CACCAGGGGCCTTCCTGCAGGGC
3' ss Score
5.24
Exon sequences
Seq C1 exon
GTAGAGATGTCCTGGAAGAGTTTCAACCGAGGGGATGTTTTCCTCCTGGACCTTGGGAAGCTTATCATCCAGTGGAATGGACCGGAAAGCACCCGTATGGAGAGACTCAGG
Seq A exon
GTAAACCTGCCCATGCACCACACCTCCCTCTCGAATCCTAGACTGCCCCCACCTGCTCCTTTCCCCAGGCCTCTCCCCGCTGACTGCTGGGGACAGCATGTTTGAAGGTGGCTCAGTCTCCATGTGTTTGGTGCAGGCATGCATGTTGGAGTTTGCGTGTGTGTACTTGTGGTCAATCCACTCAGATAGAATGAGTCTCTACAGTGTGACAGAGCCTGTGCCAAGCCTTAGGGATCCAGTGGTGAATGAAATGGGCATGGACATACGTGTGTTTATACTCACAGTACATTGACGCTGTGTGTGCACTGTGAGACTGCAGGCATGTTTGGGTGCAAAGAGATTTTTTTTTTGGAAACACAGTTTTGCTCTTTTTGCCCAGGCTGGAGTGCAATGGCGCAATCTCAGCTCACCGCAACCTCCGCCTTCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGGATTACAGGCGTGCATCACCACACCTGGCTAATTTTTTGTATTTTTAGTGGAGACAGGGTTTCACCATGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCCACCCGCCTCGGCCTCCCAGAGTGTTGGGATTACAGGCATGAACATGATTGAGTACTGTGATCCTTGGGGCTCAGCTCGTGTCCCGAACTGTGAAGTCTAAGCACACATTTCCCACACTGTCAGAACAGAAGGCCCAGCAAGCCCGCTTGAGCACCTCCCTGACAGTGGGGAAACCTGCTCTCCCAGCTGCCTTCCCCCTGGTTTCCTTACATGCCTTAAAAGCTTGACCCCTCCGACGGGGAAAAGCAGGGCAGGGGTCTCAACCCCTGTGGCTGCTGTAGGTGGTCTGGGCTTGCCTGGCAGGGTGTAGGGTGGCAGACACTGCCTCATTCCCCGACTACTCCCGATGGGTCACCAGGGGCCTTCCTGCAG
Seq C2 exon
GGCATGACTCTGGCCAAGGAGATCCGAGACCAGGAGCGGGGAGGGCGCACCTATGTAGGCGTGGTGGACGGAGAGAATGAATTGGCATCCCCGAAGCTGATGGAGGTGATGAACCACGTGCTGGGCAAGCGCAGGGAGCTGAAGGCGGCCGTGCCCGACACGGTGGTGGAGCCGGCACTCAAGGCTGCACTCAAACTGTACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000127831:ENST00000248444:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.078 A=NA C2=0.044
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=FE(48.0=100)
A:
NA
C2:
PF0062617=Gelsolin=PD(40.0=44.1)
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:
AGATGTCCTGGAAGAGTTTCAACC
R:
TGGTACAGTTTGAGTGCAGCC
Band lengths:
310-1257
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains