HsaINT0003215 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66557133-66557929:+
Coord C1 exon
chr11:66557133-66557225
Coord A exon
chr11:66557226-66557698
Coord C2 exon
chr11:66557699-66557929
Length
473 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
3' ss Seq
CCCCTGCCTGGCCCTGTCAGCTG
3' ss Score
6.34
Exon sequences
Seq C1 exon
GCAGAGACAGCTGCCAACAGGATCTGCAAGGTGCTGGCAGTGAACCAGGAAAACGAGAAGCTGATGGAGGAGTATGAGAAGCTTGCCAGTGAG
Seq A exon
GTGAGGCTGGGCTCCCACCGTGCTCTCCCCACCCCAGCCCTACTGGCTCTCCCAACCCTGCTAACCCCAAGCGTGGGCCTGCAGAGCCTCCCTCTGCTCAGAGTAGCCCTGGCTTCCTCCCAGCCTCCTCCTGTCCATCCCCACCCATCACCTGCCCTTCTGCCAACCCATGCTCCTGTCAGTCATTGATTCACTCATCATTCATCCATTTACTTCTGCATCGATCCATTCACTTGTATTTAAGTAGTCACATGGCCCTCTGCTCTGTGCCAACCTATACTAGCCCCTGGACTCAGAAATCAACCATCCCACTTCTTCTCTGACTTGTGGGGACTACCCCATCCTGCTTTCGTAGTTGTCAAAGTCACCCCCACCTACACTCTGGCCACAGCCTGGGTGTGGGTGGAGAGGGGTGGGTGAGCTGGGCAGGTCAGCGCAGAGCTGTCTGCCTTGCCCCTGCCTGGCCCTGTCAG
Seq C2 exon
CTGCTGGAGTGGATCCGCCGCACTGTCCCATGGCTGGAGAACCGTGTGGGTGAGCCCAGCATGAGTGCCATGCAGCGCAAACTAGAGGACTTTCGGGACTACCGGCGTCTGCACAAGCCGCCCCGCATTCAGGAAAAGTGCCAGCTGGAGATCAACTTCAACACACTGCAGACCAAGTTGCGGCTCAGCCACCGGCCTGCCTTCATGCCCTCCGAGGGCAAGCTGGTCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:9
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=0.017
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PU(9.9=35.5)
A:
NA
C2:
PF0043516=Spectrin=FE(68.5=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:
GAGACAGCTGCCAACAGGATC
R:
GACCAGCTTGCCCTCGGAG
Band lengths:
318-791
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