HsaINT1004940 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57808395-57809695:-
Coord C1 exon
chr12:57809597-57809695
Coord A exon
chr12:57808549-57809596
Coord C2 exon
chr12:57808395-57808548
Length
1048 bp
Sequences
Splice sites
5' ss Seq
CTGGTAGGA
5' ss Score
6.77
3' ss Seq
GGGAATGGGTGGCTCTGCAGGGC
3' ss Score
3.48
Exon sequences
Seq C1 exon
GACTGCTACATCCTGGACCAAAGTGGAACCAAAATCTACGTGTGGAAAGGAAAAGGAGCCACAAAGGCTGAAAAACAGGCAGCCATGTCTAAAGCGCTG
Seq A exon
GTAGGAGCTACAGATGTGCAATACTGTTCAAATAATTCTGCTAAGAGCACTTCAGGTGTGTCACTCCACAGAGCCATGCTAGGTATTTGAGCATATAACATTGTGCTTACGTACATGGACTGCAAAGTCAGGCAGACAAACTGGGATTCAAATCCAGGTTTTGTCTTTTCCAGCTGTGTGCTCTGGGGAAGACATACTTAACACCTGTGGGCCTCAGTTTCCCCATATCTAACATGGGGGTCATACCCATCTCCTAGGGTTATTGTGAGGATTAAATATCATTTGTAAAGCACTCAGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTAAGGAGTTCAAGACCAGCCTGCCAACATAGTGAAACCCTGTCTCTACTAAAGATACAAAAAAAATTATCCAGGCATGGTGGCGCATGCCGGTAGTCCAGGCTACCTGGCAGGGCACTGAGATAGGAAAATCACTTGAACCCGGGAGGCTGCAGTGAGCCGAGATCACGCCACGGCACTCCAGCCTAGGTGAGAGCGAGACTCTGTCTAAAAAAAAAAAAAGCACTCAGAACAGTTCTTGGCACACAGTACCTGCTGAATAAAAGGTGGCTGTTATTATTGAAGGGGATATCACATATCAAGGTTAATGGCCCTGTCCTCAAGGAGCTTATATTTGTGCAGATCCATGCAGATGAACCAAGCCAGAAGCAATAAATGAGCAAACAAATGTGATGCAAAGTCAGTAAGGACAAAAGTACTGAAAGAACACAGCATAATCATCCTAAAAATTAACAACCATAATCACCGCAAGCCAATAAACAGATCCAAAAATGTTCCACTCAGTCATTTTTTTTTTAGGCAGGTACCTTGGTCCTTAGACAAAAGTGAGTTAGAATTTGACTCTGACTCCCAGAGGGGAGACGCTTATATCATGTGGCTTCATAGAGGTGAATTACCAGACAAGCAAAGAACTCAGTGTATTCCACCACTGACCTGCCTTTGGGAATGGGTGGCTCTGCAG
Seq C2 exon
GGCTTCATCAAGATGAAGAGCTACCCCAGCAGCACCAATGTGGAGACCGTCAACGATGGTGCTGAGTCGGCCATGTTCAAGCAGCTGTTCCAGAAGTGGTCAGTAAAGGACCAGACCATGGGCCTGGGGAAAACGTTCAGCATTGGTAAAATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:8
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=0.019
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=FE(41.0=100)
A:
NA
C2:
PF0062617=Gelsolin=PD(33.3=50.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACTGCTACATCCTGGACCAA
R:
ACCAATGCTGAACGTTTTCCC
Band lengths:
246-1294
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains