HsaINT0015953 @ hg38
Intron Retention
Gene
ENSG00000135407 | AVIL
Description
advillin [Source:HGNC Symbol;Acc:HGNC:14188]
Coordinates
chr12:57806360-57807489:-
Coord C1 exon
chr12:57807331-57807489
Coord A exon
chr12:57806540-57807330
Coord C2 exon
chr12:57806360-57806539
Length
791 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
TCTGCTTTTCTTCTCTCTAGGGT
3' ss Score
12.36
Exon sequences
Seq C1 exon
GGCCGCCACGCCTCACAGGATGAGCTGGCAGCCTCAGCATACCAGGCAGTGGAGGTGGATCGGCAGTTTGATGGGGCTGCTGTGCAGGTTCGAGTCAGGATGGGAACGGAGCCACGCCACTTCATGGCCATCTTCAAAGGGAAGCTAGTTATCTTTGAG
Seq A exon
GTGAGGATGCTCTGATAAAATTACACCATGAGCTGGAACGTTCCAAACTAACAAACCAGCACAGGACTATTGGAGAGCAGAGGAGGGGTGGGGTAGGGAGTCAGGCTTGGATTAGACAGAGGAAGAAGGGGGTTAATCCCTCTAAGACAGTCAAGTGAATCCCAACTGCCTAGGGCTTCAAGTCTGAACCACTATCTAAATTATGTTCAAGGTCTTTCATAACCTGACCCATATTACCTATGCAGGTGCACCACCCTCAGCTCCCTAACCTGCACCCTCCACTCCAGTCAGGTGGGTCTCTTCATTAGACCTCACGTGTACCATACCATACCCCTCCTGCTTCAGATGTGCTCTTTCAAATTCAAGTCCCACTTCTTCCATGAAGCCCTGGCTGAAGCACTACCAAGCAATGCGTAATGGCACATGCTTGATATCACACAAGTCTGGGGTCAAGTCCTAGCCTTGTCATTTACTAGTCAAGTTTCCAAGTCTCAGTTTCCTCATCTGTACTATGGAATAATAACATCTACTTCATAAGAGTTATAATGAGGATCAATGAAATGATGTAGGTAAGCACCAGTCACAGAGCCTGGAATATGATAAAGTTCTCAGGATGAAAGTTGTTGTTATCGGTGACATAACTCCAGCTTACCCTGACCCTTTCCAGTGAGTCTAGAAGCTCCTCAAGGGCAAACATAATACTATAACATTCACGTTTCCCACAACAGCTCCTCTAGCACTCTGCTCACATGGTGCTCCTTAGATCTGGACTCTGCTTTTCTTCTCTCTAG
Seq C2 exon
GGTGGGACTTCCAGGAAGGGAAATGCCGAGCCTGACCCTCCAGTAAGACTCTTCCAAATTCATGGAAATGACAAATCTAACACCAAAGCAGTGGAAGTTCCAGCCTTTGCCTCCTCCCTAAACTCCAATGATGTCTTTCTGCTGCGAACTCAGGCAGAGCACTACCTGTGGTATGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135407:ENST00000257861:12
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=0.217
Domain overlap (PFAM):
C1:
PF0062617=Gelsolin=PD(49.4=77.4)
A:
NA
C2:
PF0062617=Gelsolin=PU(48.6=56.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CGCCACGCCTCACAGGAT
R:
CACAGGTAGTGCTCTGCC
Band lengths:
326-1117
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