HsaINT0003205 @ hg19
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin, alpha 3 [Source:HGNC Symbol;Acc:165]
Coordinates
chr11:66329493-66329793:+
Coord C1 exon
chr11:66329493-66329639
Coord A exon
chr11:66329640-66329727
Coord C2 exon
chr11:66329728-66329793
Length
88 bp
Sequences
Splice sites
5' ss Seq
AGGGTCAGC
5' ss Score
3.64
3' ss Seq
TAACCACTCACCCCCTACAGAAG
3' ss Score
6.8
Exon sequences
Seq C1 exon
CACATCCGCGTGGGCTGGGAGCAGCTGCTCACCTCCATTGCCCGCACCATCAATGAAGTGGAGAACCAGGTACTGACCCGAGACGCCAAGGGACTGAGCCAGGAGCAGCTCAACGAGTTCCGAGCATCCTTCAACCACTTTGACAGG
Seq A exon
GTCAGCAGGGGCCTGGCCCTGTGGGGTAAGACACTTGGGGGCTGGTGGAGGCTGGAGACCAAGCCTGATAACCACTCACCCCCTACAG
Seq C2 exon
AAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-ACTN3:NM_001104:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF134991=EF-hand_7=PU(33.3=53.1)
A:
NA
C2:
PF134991=EF-hand_7=FE(26.9=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:
ATTGCCCGCACCATCAATGAA
R:
TAGCCCATGGAGATGAGGCAA
Band lengths:
170-258
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)