HsaINT0015962 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57810816-57811127:-
Coord C1 exon
chr12:57811019-57811127
Coord A exon
chr12:57810927-57811018
Coord C2 exon
chr12:57810816-57810926
Length
92 bp
Sequences
Splice sites
5' ss Seq
GAGGTTAGT
5' ss Score
7.15
3' ss Seq
TGTTTACCTCTCATCGACAGGTG
3' ss Score
9.42
Exon sequences
Seq C1 exon
CTACAAGCAGGGGGGTGTCGCCTCTGGGATGAAGCACGTGGAGACCAATACCTACGACGTGAAGCGGCTGCTACATGTGAAAGGGAAAAGAAACATCAGGGCTACCGAG
Seq A exon
GTTAGTCCTGCACACTCTCTGCCCCAGGCCCGGGGCTTCTCCACCTGGCACCTAAGAATTCCTCCTGAACAATGTTTACCTCTCATCGACAG
Seq C2 exon
GTGGAAATGAGCTGGGACAGTTTCAACCGAGGTGATGTCTTCTTGCTGGACCTTGGGAAAGTCATCATCCAATGGAATGGCCCAGAGAGCAACAGTGGGGAGCGCCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:4
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=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(8.0=16.2)
A:
NA
C2:
PF0062617=Gelsolin=FE(48.0=100)
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:
AGCACGTGGAGACCAATACCT
R:
CTGTTGCTCTCTGGGCCATTC
Band lengths:
172-264
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
- Pre-implantation embryo development