HsaINT0015964 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57809812-57810551:-
Coord C1 exon
chr12:57810349-57810551
Coord A exon
chr12:57809891-57810348
Coord C2 exon
chr12:57809812-57809890
Length
458 bp
Sequences
Splice sites
5' ss Seq
TCAGTGAGT
5' ss Score
7.68
3' ss Seq
TAACCTCTCCCCTTCTCCAGTAT
3' ss Score
8.18
Exon sequences
Seq C1 exon
GCTATGCTTCTGGCAAAGGATATTCGAGACAGGGAGCGAGGGGGCCGTGCTAAAATAGGAGTGATCGAGGGAGACAAGGAGGCAGCCAGCCCAGAGCTGATGAAGGTCCTTCAGGACACCCTTGGCCGACGCTCCATTATCAAGCCTACAGTCCCTGATGAGATCATAGATCAGAAGCAGAAATCAACTATCATGTTGTATCA
Seq A exon
GTGAGTAGCTCAACCTGGTTTTAGCTGGAAGCTGGGGTTGGGGGGAAGGTGTCCCCTAGAACACCAGCCACCTCTGCTTGGCTCCTTGTTTTGGGTGTAGCCATCTGGTTTTCTTCTTAGTCCTTTTCAAATGCAGCTCCTAGAAAGCTTGGAGATCCCCCACTCAAGGAGGCAGTTCTTGTTAGCAACTCTCCTGATCTCTTGAGGAGACCTTTCCTTTACTCTAGCCTACACATGCCCAGGGATGTGGAAGGGATAATGTTTGGGAGAGAGATGAACAAAAGTCTCCACCAAAGAAAAGAGTCTGCACATTCCTGTCCTCACTCAAGTCATGGCTGTCTTAGGCAGTCACACTCTACCTAGAAACTCCAAACTAAAACCAAACCAGAACAACATCTAGTTGACTACAAGATGCTTTATAGAGGAAAAGGCACAGGCTAACCTCTCCCCTTCTCCAG
Seq C2 exon
TATCTCAGATTCAGCTGGGCAGCTGGCAGTCACAGAGGTAGCAACAAGGCCTCTGGTCCAGGACTTACTGAACCATGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.059 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(40.0=44.1)
A:
NA
C2:
PF0062617=Gelsolin=PU(21.8=63.0)
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:
GCTTCTGGCAAAGGATATTCGAGA
R:
TTCAGTAAGTCCTGGACCAGAGG
Band lengths:
270-728
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