HsaINT0003205 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66562022-66562322:+
Coord C1 exon
chr11:66562022-66562168
Coord A exon
chr11:66562169-66562256
Coord C2 exon
chr11:66562257-66562322
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:ENST00000513398:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
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