HsaINT0003199 @ hg19
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin, alpha 3 [Source:HGNC Symbol;Acc:165]
Coordinates
chr11:66326707-66327547:+
Coord C1 exon
chr11:66326707-66326857
Coord A exon
chr11:66326858-66327438
Coord C2 exon
chr11:66327439-66327547
Length
581 bp
Sequences
Splice sites
5' ss Seq
CAAGTAGGC
5' ss Score
5.3
3' ss Seq
GCCCTACTTCTCGCTCCCAGTGA
3' ss Score
8.26
Exon sequences
Seq C1 exon
GAAAGGAGGAGATGCTGAGCCAGCGCGACTACGATTCGGCTTTGCTACAGGAGGTGCGGGCGTTGCTGCGGCGCCACGAGGCCTTTGAGAGCGACCTGGCGGCGCACCAGGACCGCGTGGAGCACATTGCCGCGCTGGCCCAGGAGCTCAA
Seq A exon
GTAGGCGGGGCCTCGCGGGGCCCGCCCCCAACACCCCCGGCCCCGCCCCCGGTGGCGAGCCCCACCCTGATCCCCATTGCCCTTCTCAAGACACTAGGCTCTCCTGGGTTCTGTAACCCCGCCGTGGTACCCAGGTCCCATTCGCTCCGCCCCTCCTGGAACCCCACCCCCACCTCCGGACCCCGCTCTGCTGCTCACACTCTTCCCACTGGCGCTTGACCTGTCTCACTCCGTGACCTGCCCTCTAACCTGCCCGCTCTCTTCACCCGGCTTACTGCTCCAAACCCTCCCCATCAGCCTTGGCCTGGCCACCCCCTCCCATGAACCCGCCCCTTCTTGCGCAACCCCGCCCCTCCACCCAAGCACCTCCATGGACTGCAGCTAAGGACCCGCGGGCGCCCACCTGCCCAGAGGGATGCGCTGGTACCGCCCCTCTTGGAAAGCACCCAGCTTTACCCACCACCTGCCCTGGCTCCCGCACGCCTTCACCCCCATCCGGGGAGCAGGTTCCAGCCCTGGGAGTGCAGTTAGGACATCTGGGCTGGGGCTGGCCCCACACTCGCCCTACTTCTCGCTCCCAG
Seq C2 exon
TGAGCTGGACTACCACGAGGCAGCCTCAGTGAATAGCCGCTGCCAGGCCATCTGCGATCAGTGGGACAACCTGGGCACCCTGACCCAGAAGAGGCGGGATGCGCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-ACTN3:NM_001104:12
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.010 A=NA C2=0.068
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(47.2=100)
A:
NA
C2:
PF0043516=Spectrin=FE(34.0=100)
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:
GAAAGGAGGAGATGCTGAGCC
R:
CGCATCCCGCCTCTTCTG
Band lengths:
254-835
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- 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)