HsaINT0003203 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66561227-66561637:+
Coord C1 exon
chr11:66561227-66561361
Coord A exon
chr11:66561362-66561457
Coord C2 exon
chr11:66561458-66561637
Length
96 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
3' ss Seq
CTGCCTGGGAACCCCTGCAGGAA
3' ss Score
5.37
Exon sequences
Seq C1 exon
GTCCGAAAGCTGGTGCCCAGCTGTGACCAGACACTGCAGGAGGAGCTGGCACGGCAGCAGGTAAACGAGAGGCTCCGGCGACAGTTTGCGGCCCAGGCCAATGCCATTGGACCCTGGATCCAGGCGAAGGTGGAG
Seq A exon
GTAAGGGCTGGGATAGTGGGTCCAACCTGGGGGGATGGGGCCAGGGCTGGGCCACAGGGAGTTGGGAGCCCTCATGCTGCCTGGGAACCCCTGCAG
Seq C2 exon
GAAGTGGGGCGGCTGGCAGCAGGGCTAGCTGGCTCTCTGGAGGAGCAGATGGCTGGGCTACGGCAGCAGGAGCAGAACATTATCAACTACAAGACTAACATTGACCGGCTGGAGGGTGACCACCAGCTGCTGCAGGAGAGCCTGGTGTTCGACAATAAGCACACCGTCTACAGCATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (disopred):
C1=0.333 A=NA C2=0.375
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(11.6=28.9),PF0043516=Spectrin=PU(20.2=46.7)
A:
NA
C2:
PF0043516=Spectrin=FE(56.7=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:
CACGGCAGCAGGTAAACGAG
R:
TAATGTTCTGCTCCTGCTGCC
Band lengths:
168-264
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