HsaINT0003202 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66560573-66561361:+
Coord C1 exon
chr11:66560573-66560755
Coord A exon
chr11:66560756-66561226
Coord C2 exon
chr11:66561227-66561361
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
AGCCTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACCGAGAGCGAGGTGCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCCTGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATG
Seq A exon
GTCAGTGCCACCTGCAGCCTTCCTCCCACCCCCTCCTGCATACTGTGACCACCCTGAAATCTCGGGTGGCCCAAGATATGGAGAATAAAGTCCATCTTCAGATGTGGGGTCTGCCACAGACTCCACGTGGGATTGGATAAATCGCCTTGCCTGTCTCGGGCTCATCTGTATATGATGAGCTGTAACAGCAGCATTCTCCTGTCAGGACTGATGTGAAGTAGAATTAAGCCTTGTGTGTGGACATCTTTTATAAATCCACCCATATTAGTAAATGATGCCATCAGCCCCATTTTGCAGATGAGAAAACTGAAGCCCACATGGGTTAGTGACTTGCCCAAGAGCTTTCTCGTATATCCCAGACAAGTTGGCTCAAAGCAACAGGGGCTGAGGTTTGAGGGGCTGGAGCCCATCTCCCCTAAAGCCATTTCCCAGCCCCCAGAGCTGGCTCTGGCATAACTGCCCTCCTCCCAG
Seq C2 exon
GTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAGGTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATCCAGGCGAAGGTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:15
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
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