HsaINT0003165 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68878989-68880108:-
Coord C1 exon
chr14:68879962-68880108
Coord A exon
chr14:68879070-68879961
Coord C2 exon
chr14:68878989-68879069
Length
892 bp
Sequences
Splice sites
5' ss Seq
CGGGTGAGA
5' ss Score
7.62
3' ss Seq
CTGGCGCACCGCGGCCCCAGGAT
3' ss Score
4.48
Exon sequences
Seq C1 exon
CACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG
Seq A exon
GTGAGAGCCCCATCCTGTGCTTTCTTAGTGCAGCCCCCAACCCCTGCCCCAGGGCCCTGGAGGGCACTTCCCCGGGACGTGGGCTGCCATGCAAGTGAGGAGGGAGAGAAAGGGGAAACTGCCGTCAGCCTGCCCTGACTCAATGCACCCTGCAAAACCAGCCTTGGAAAACCTGTGTTGGTGCCCCATAAGCTTCCCTGCTTTCCGGGAGAGAGTGTTCAGACTGTGGGTAGAAAGAGGACCTTTGACCCCTGATCCTTGCTCTCCTACCATGAGGAGTCACCCTCAGTGAAGGCTTGCTGCTCCCTGGCTGTGGAGACAGAGGAGCAGAAGAGACTCCTCCTGCCCTCGCTGGCCCCTACCCCTACCCCGACCTCCAGTGGCCTCTGGGACTCTGCTGGGGATGTCAGAGGCCTTGGTCCTGGGTTCCCATCCCAGCTCTGGGTCAGGCTGGGTTTTAGTGGGCTGCCCCTTCCCAGTGCCCTGGGGCTTGCGGGCGGTCCCAAGGCGTGGGAGCATGGGCTTGGGTGCTGCCCACCACCCCACCTGCTTCATGGCTCTCTAGGCACCTGGGGGGAAGCCCCTGGGGAAGCGGGGGGGCTGGGTCACTTCTGAGGGAGCTTCTCACCCTTGTGGCTCATCACACCCCACTGTGGTCCTGCTCCCTGGAGCAGGGCTGCGTGTGCTGGGGGGAGGGCACCCCCTGGAGCCTCGTTGGTGTGTCTAACCGTGTGCACTTTTATTTCCCCTCCTCCCCCGCCCCCCCACCCTCCCTCCGCATGCCTGTCCCTGTGTCTCCCCACACACGCCACCCTCCCCCGGGGCATGCCCCCCTCACGGCTCCACCTCCCTGACACCGCATGGCTCGCTGCCTGGCGCACCGCGGCCCCAG
Seq C2 exon
GATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.076 A=NA C2=0.191
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF0003627=EF-hand_1=PU(34.5=20.4)
A:
NA
C2:
PF0003627=EF-hand_1=PD(58.6=63.0)
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:
ATCCGTGTGGGCTGGGAG
R:
CTGGGGGTCGTTGCCAATATC
Band lengths:
225-1117
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