HsaINT0003201 @ hg38
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin alpha 3 (gene/pseudogene) [Source:HGNC Symbol;Acc:HGNC:165]
Coordinates
chr11:66560171-66560755:+
Coord C1 exon
chr11:66560171-66560311
Coord A exon
chr11:66560312-66560572
Coord C2 exon
chr11:66560573-66560755
Length
261 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGGT
5' ss Score
8.56
3' ss Seq
TTCCTGCCTGTCGTCCCCAGAGC
3' ss Score
11.21
Exon sequences
Seq C1 exon
CGGATGGAGAAGCTCCTGGAGACCATTGACCGGCTGCAACTGGAGTTTGCCCGGCGGGCCGCGCCCTTCAACAACTGGCTGGATGGTGCCGTGGAGGACCTGCAGGACGTGTGGCTGGTACACTCTGTGGAGGAGACCCAG
Seq A exon
GTGGGTGCCAGGGTTGCAGGGGATGGATAGGATGACAGGAAAGCTGGCCCCAAATTCTGCCACCCACAACTTTAGGCTCCTGGGGCATAGGGATGGGAGGAAAACCCCAGTTCCCGAGTGCTGGGCTGGAAGACAGGAGGCCGGGGTTCTTGTGTCAGGACTGCCCAGGACTGGTGGGTGGCCTGGGGCACACTGCTGCCCTTTCTGTTGCCTGTGGTAAGTGGGGGACACCAGCTGACACTTCCTGCCTGTCGTCCCCAG
Seq C2 exon
AGCCTGCTGACAGCGCACGATCAGTTCAAGGCAACACTGCCCGAGGCTGACCGAGAGCGAGGTGCCATCATGGGCATCCAGGGTGAGATCCAGAAGATCTGCCAGACGTATGGGCTGCGGCCCTGCTCCACCAATCCCTACATCACCCTCAGCCCGCAGGACATCAACACCAAGTGGGATATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746:ENST00000513398:14
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=PD(0.1=0.0),PF0043516=Spectrin=PU(32.1=76.6)
A:
NA
C2:
PF0043516=Spectrin=FE(53.6=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCCTGGAGACCATTGACC
R:
ACTTGGTGTTGATGTCCTGCG
Band lengths:
306-567
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