HsaINT0003208 @ hg19
Intron Retention
Gene
ENSG00000248746 | ACTN3
Description
actinin, alpha 3 [Source:HGNC Symbol;Acc:165]
Coordinates
chr11:66330267-66330797:+
Coord C1 exon
chr11:66330267-66330425
Coord A exon
chr11:66330426-66330505
Coord C2 exon
chr11:66330506-66330797
Length
80 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
TCAACGCCTCTTCTCCCCAGAAC
3' ss Score
8.44
Exon sequences
Seq C1 exon
GGGGAAGTGGAGTTTGCTCGCATCATGACCATGGTGGACCCCAACGCAGCTGGGGTGGTGACCTTCCAGGCCTTCATAGACTTCATGACCCGAGAGACAGCCGAGACTGACACGACTGAGCAAGTTGTAGCTTCCTTCAAGATCTTGGCAGGAGACAAG
Seq A exon
GTGAGTCCCAGGCGGTGGAGGGGCTGGTGGGCTAGGGCAGGGCACGGGACCTGTGGGTCCTCAACGCCTCTTCTCCCCAG
Seq C2 exon
AACTACATCACCCCCGAGGAGCTGCGGCGCGAGCTCCCTGCCAAGCAGGCCGAGTACTGCATCCGCCGTATGGTGCCCTACAAGGGATCCGGGGCCCCGGCTGGAGCCCTGGACTACGTGGCCTTCTCCAGTGCCCTCTATGGGGAGAGCGACCTTTGACCCCAACCACTGAGGTTCTCTATGCAAGATGGAGAGAGGATGCACCCTGTGGCTGATCCCATCCGTCCCTCGGAGCAAGGGCCTAAGAGAAAAGCCAGCCAAGTGCTTCTGAATAAAGATCCCTCTCTGGGTC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000248746-ACTN3:NM_001104:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=NA C2=0.250
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PD(35.9=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
A:
NA
C2:
PF087265=EFhand_Ca_insen=PD(70.1=88.7)
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:
GGAAGTGGAGTTTGCTCGCAT
R:
CTCCTCGGGGGTGATGTAGTT
Band lengths:
178-258
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)