HsaINT0003206 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66562257-66562954:+
Coord C1 exon
chr11:66562257-66562322
Coord A exon
chr11:66562323-66562795
Coord C2 exon
chr11:66562796-66562954
Length
473 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
CCTGGCCTCTATCCCTGCAGGGG
3' ss Score
11.13
Exon sequences
Seq C1 exon
AAGCAGAATGGGATGATGGAGCCTGATGACTTCCGAGCTTGCCTCATCTCCATGGGCTATGACCTG
Seq A exon
GTGAGAGCTCCCCAGCTCCTTCCCAGGAGTCCCAAAGTACCCCCTCCTCTGTGCTGATCACCTACTGTGCACCTCCCATCTTCACATACACCATCCCCTGCATCTTCACTACATCCACACAGGGGCTAGCAAGGCTCAGGGAGGTAAAACTCACTTGGACCCAGTTCTGTGTGGACCCAAAGTCTGAGCTTGCAACATTTTTACCTGTAGGGAAACAGCACTACAGAAACGGGTGTGGCCCTGGAAAAAAAATCAGGACCAGGGAGCAAATCTGCTTCCTGCTGTGGGTAGGATGCAGATTTCAGCCTACCATAAAGGACTTCCTACAGCCAGGGCTAAGGTCTCTGGAGGAAGGGAACTCCCTTGTTACTGGGGCTCTGCTAGCTGAGGTTGGACAGTCCCCAGGAGGGGACACTGGGAGCCCTCCTGGCTTTAGTGCTCATGGGCATAGTGCCTGGCCTCTATCCCTGCAG
Seq C2 exon
GGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:19
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:
PF134991=EF-hand_7=FE(26.9=100)
A:
NA
C2:
PF134991=EF-hand_7=PD(35.9=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
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:
GCAGAATGGGATGATGGAGCC
R:
TTGTCTCCTGCCAAGATCTTGA
Band lengths:
222-695
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