HsaINT0003202 @ hg19
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin, alpha 3 [Source:HGNC Symbol;Acc:165]
Coordinates
chr11:66328044-66328832:+
Coord C1 exon
chr11:66328044-66328226
Coord A exon
chr11:66328227-66328697
Coord C2 exon
chr11:66328698-66328832
Length
471 bp
Sequences
Splice sites
5' ss Seq
ATGGTCAGT
5' ss Score
6.57
3' ss Seq
CATAACTGCCCTCCTCCCAGGTC
3' ss Score
8.91
Exon sequences
Seq C1 exon
AGCCTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACTGAGAGCGAGGTGCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCCTGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATG
Seq A exon
GTCAGTGCCACCTGCAGCCTTCCTCCCACCCCCTCCTGCATACTGTGACCACCCTGAAATCTCGGGTGGCCCAAGATATGGAGAATAAAGTCCATCTTCAGATGTGGGGTCTGCCACAGACTCCACGTGGGATTGGATAAATCGCCTTGCCTGTCTCGGGCTCATCTGTATATGATGAGCTGTAACAGCAGCATTCTCCTGTCAGGACTGATGTGAAGTAGAATTAAGCCTTGTGTGTGGACATCTTTTATAAATCCACCCATATTAGTAAATGATGCCATCAGCCCCATTTTGCAGATGAGAAAACTGAAGCCCACATGGGTTAGTGACTTGCCCAAGAGCTTTCTCGTATATCCCAGACAAGTTGGCTCAAAGCAACAGGGGCTGAGGTTTGAGGGGCTGGAGCCCATCTCCCCTAAAGCCATTTCCCAGCCCCCAGAGCTGGCTCTGGCATAACTGCCCTCCTCCCAG
Seq C2 exon
GTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAGGTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATCCAGGCGAAGGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-ACTN3:NM_001104:15
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.158 A=NA C2=0.333
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(53.6=100)
A:
NA
C2:
PF0043516=Spectrin=PD(11.6=28.9),PF0043516=Spectrin=PU(20.2=46.7)
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:
GACAGCGCACGATCAGTTCAA
R:
CTCCACCTTCGCCTGGATCC
Band lengths:
310-781
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)