HsaINT0003199 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66559236-66560076:+
Coord C1 exon
chr11:66559236-66559386
Coord A exon
chr11:66559387-66559967
Coord C2 exon
chr11:66559968-66560076
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:ENST00000513398:12
Average complexity
IR
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