HsaINT0015960 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57813227-57814226:-
Coord C1 exon
chr12:57814152-57814226
Coord A exon
chr12:57813424-57814151
Coord C2 exon
chr12:57813227-57813423
Length
728 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
3' ss Seq
TCTCTCTGACTACCTCCCAGACC
3' ss Score
6.28
Exon sequences
Seq C1 exon
AAAATGGAGCTGGCGCTGGTGCCTGTGAGCGCCCACGGCAACTTCTATGAGGGGGACTGCTACGTCATCCTCTCG
Seq A exon
GTGAGCACCCTCCTCCCCACTCCTGTGAGCCTCTCCCCTGGGGCCAGTTCTTGGGCTGTACTGGGAGATGTGCTGGTGAGGGAAGGTAGTCAGTCCCTGGTATCGGTCTCAATGGTTCCTCAGTGCTATGCAGAGCAGACCTCCAGTCTGACTATCAAAGGCCATCATTAAGCCTGGGTTTTTAATGCTGCATAAGAGGATGGGGGTAGGACCCTCAGTCTGAACCTCAGTGAGCCACCCACAAGCAGCACTTCTCCCGGGCCTAGGCCCCACATTAAAGTGGTGTGGAAGAAGGCCTGATAAATGCAAGGCCTGTCTCTAGCCTCAAAGTGCTATTCTCATGGAGGAGACTCACATGAACGGTGCTGACAGGGTCGTGCAGGTGTACAGATGAGCACTGTGCCAGCTGTGTGAGTGCAAGGGACCAAGGGGACCTGTGAGGTAAGCCTGCAACCCGGCTGGGAAAAGATCCCCGTTGGTATCTATTTATTTGGGGAACAACAAGCTGTCAACTTTCCCCAAATGCGGGGAGGAATTTGGGCTGCCAAAGTTTATGCCATGATCGCAGGTCTGCTCGGGGGCCAGGGCAGCTCCCACATCCACTGCAGGAGAGAGGGCCCTCAGTCTGCCAAGGGCATGCACATGTGCTGCATTCTCCCCATAACAGGGGCCAGCAGCAAAGGGGAGGTGAGCTGGCCTCTGACCTGATCTCTCTGACTACCTCCCAG
Seq C2 exon
ACCCGGAGAGTGGCCAGTCTCCTATCCCAGGACATCCACTTCTGGATCGGGAAGGACTCCTCCCAGGATGAGCAAAGCTGCGCAGCCATATATACCACACAGCTGGACGACTACCTGGGAGGCAGCCCTGTGCAGCACCGAGAGGTCCAGTACCATGAGTCAGACACTTTCCGTGGCTACTTCAAGCAGGGCATCAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.060 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PU(28.9=96.0)
A:
NA
C2:
PF0062617=Gelsolin=PD(68.7=86.4)
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:
CACGGCAACTTCTATGAGGGG
R:
TGATGCCCTGCTTGAAGTAGC
Band lengths:
238-966
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