HsaINT0015955 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57803247-57803669:-
Coord C1 exon
chr12:57803524-57803669
Coord A exon
chr12:57803392-57803523
Coord C2 exon
chr12:57803247-57803391
Length
132 bp
Sequences
Splice sites
5' ss Seq
AAGGTATGG
5' ss Score
9.26
3' ss Seq
TTAAATGGACTATATTGCAGACT
3' ss Score
4.41
Exon sequences
Seq C1 exon
GGGTCTAGTGGGGATGAGCGGGCAATGGCTAAGGAGCTGGCCAGCCTTCTCTGTGATGGCAGCGAGAACACTGTGGCCGAGGGCCAGGAGCCAGCCGAGTTCTGGGACCTACTGGGAGGGAAAACTCCCTATGCCAATGATAAAAG
Seq A exon
GTATGGGAACACAGCCTCCCCCTCTTCTGGGCTCCCCCTGCCTGCCAGGCTTGTGAATTGCACAAAGGCTAAAACCTCAGTTTTAAAAACATTTCTAAGCAGCTTGATGCCCTTAAATGGACTATATTGCAG
Seq C2 exon
ACTTCAGCAGGAAATCCTAGATGTCCAGTCTCGTCTCTTTGAATGTTCCAATAAGACCGGCCAATTCGTTGTCACTGAGATCACAGACTTCACCCAGGATGACCTGAACCCTACTGACGTGATGCTCCTAGATACCTGGGACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:14
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(48.6=69.4)
A:
NA
C2:
PF0062617=Gelsolin=PU(34.2=55.1)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCTCTGTGATGGCAGCGAG
R:
GGTCCCAGGTATCTAGGAGCA
Band lengths:
244-376
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