HsaINT0003225 @ hg38
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38726957-38728026:+
Coord C1 exon
chr19:38726957-38727103
Coord A exon
chr19:38727104-38727945
Coord C2 exon
chr19:38727946-38728026
Length
842 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGC
5' ss Score
9.6
3' ss Seq
CCTTCGGATGGCCCCGGCAGGAT
3' ss Score
3.65
Exon sequences
Seq C1 exon
CACATCCGCGTGGGCTGGGAGCAGCTGCTCACCACCATTGCCCGCACCATCAACGAGGTGGAGAACCAGATCCTCACCCGCGACGCCAAGGGCATCAGCCAGGAGCAGATGCAGGAGTTCCGGGCGTCCTTCAACCACTTCGACAAG
Seq A exon
GTGAGCAGCCTGCCACCTCCTCGGCCTCTCCCCTCCCGCCGTTGCCGTACCAGCCCACACCTTCGTCTCTGCATCTGTTCGTCCATTCCCATCACAGTTGCTGAGCGTCGGCCGCCACTCCCAGGGCCAGCAGGGCCCTGCCACTGTCAGGGTGTAGGTGTGCGGCACCAAGACCCCAGCCTGGGCCACTTCACACGCACAGGCAGGGGGCCGGAGGTCCCAAGTCCTGCCTTCTGGGGTGGCATCCTCACCACCCCCAGGGCAGATGAAGTCTCAGCACACCCAGGCTTTGCGACCCGGTCTGTGAACCTGGACACAGACACCCCGCACAGTGCTTTTAGAATTCAGATTTGGTCCGGCAGCCTCATCAGAGGGGCCCTGAGCGCCAGAGTTTGCTGCCATCCCCAGCCCACCCCTGCCGGGCTGACGGACTGAGAAGTGTGCAGCCTCAGCTCTGCACCTGGCGCCCCCAGGACAGGATACAGTCCCCTCTGTCCCACTCCAAATCCCAAAGGCAAGGAGAACCCCCCCCCCGACCCTCCACCAGTCCTGGGACTTGTCCTCAGTTCTGTAGCATCCAGCTGCCACCCCTGCTGTGGGCAGAGAGGTCGGGGAGGCCTCTGCCTTCCTTTGAGCTTCCGAGGTTGGGGAAAGGATGAAAGGGGCCCGTGCCGCCCCCGACCCCACGTGTCCCTGGCCATCTCCTTGTCCATGTTGCCTCTAACTCTGTGTTTCCCTCCCCTACGTGTCCCTTCCCCCTGCCCTCTGCATGTGACCCCGATCCCTCATCCTGGTCTCCACGCCGCCCCTCCCGCACACCTGCCTTCGGATGGCCCCGGCAG
Seq C2 exon
GATCATGGCGGGGCGCTGGGGCCCGAGGAGTTCAAGGCCTGCCTCATCAGCCTGGGCTACGACGTGGAGAACGACCGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402:ENST00000252699:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.020 A=NA C2=0.062
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF134991=EF-hand_7=PU(31.3=53.1)
A:
NA
C2:
PF134991=EF-hand_7=FE(31.3=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:
AGCTGCTCACCACCATTGC
R:
CTGCCGGTCGTTCTCCAC
Band lengths:
206-1048
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