HsaINT0003166 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68877082-68879069:-
Coord C1 exon
chr14:68878989-68879069
Coord A exon
chr14:68877241-68878988
Coord C2 exon
chr14:68877082-68877240
Length
1748 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTC
5' ss Score
7.04
3' ss Seq
GGTTTGGCTGTTCCCTCCAGGGA
3' ss Score
7.11
Exon sequences
Seq C1 exon
GATCACTCCGGCACACTGGGTCCCGAGGAGTTCAAAGCCTGCCTCATCAGCTTGGGTTATGATATTGGCAACGACCCCCAG
Seq A exon
GTACTCGCCTCCTGCATGGAGCACGCTCAGGGGTGGCGTCTGGGGCAAGAAATAATGCGTTTTTCCTTTTTCTCTTCTCTCTGTCTGGATCTCCTGTCCCCCTCCTGTGGGCCATGGGGCTCGTCCTCTCCTGCTGTCTCTGTCTGCCCCATCACTGGTCCACCCTCTGCCCTCTGCTGTCTTTCATGGCAACCTACTGGGTGCCCGCTGTCTTCCGTCCTCGCTGCTCTTCATCCCATGGGTGGATTTTTGCATCTCCCTGCTCTGTCTTCCTCCTGTCTTTGGACATTTCCACCGATGTGTGTTCGCATCTTCTCCTATGTTCCTTTACCTATCCTGACCCCCAAAACCATAAATCTCATCCCCGTTCTGGCCATCTGTTCCTGTCTTCCTGGCCCCGGGCCGGCCCTTCCTCTTCCTGCCTTCCCGACCCTCCTTGTGTCTTGGTACCACTGCCCCCCACAGAAGAAGACAGGCATGATGGACACGGATGATTTCCGCGCCTGCCTGATCTCCATGGGTTACAACATGGTAACGTAAACCCCACCCTCTGTCTGCCCTGGTGAGAAGGCAGCCAGCTGGCGGGAGCAGCCAAGTCCCAGGAGTGGCAGGCTGGAGGCCCTCAGGCTAGGGGCTGCCCTCCCTGGAGGAGCCCCAGGGCCCATGTCCTTGGGGAAGATGGCTCCCTGAAAGCCGGCCCGGCCACGGGCGTGTGTGTATCCGGGAGGCCTGACCTCCTCGCCTCAATCTCTGTGCCACTTCATCTTCTGGTACTTCTCACTCCCACTGTGGACAGCTGGGCTGACCCTGAGGCTGGCAGGAAGGACTGGTGGTGTGGGACATCCCAGGTTTCGGGCTGGCATGCGTCACCTCACATGGAGCATGGAAACCGAGACTTCCACCTCTGTCCTGGCGGTGACTCTGGTTGGGCCTGCCGCCCCTCTGGATTGTCCCAGGCCGTCCCCCACCCCCCAACCTTCCTAGTCTGTCCCCCCTTGCACAGACATTCTGAGCAGAGCAGTCAGGTGACTCCTGAGCCATGGTGCCAAGTGCAGAGCCCACAGGCTGTCCAGCGCAGGGCATGGGCATGGGGCTAGGAGCAGTGAACCTGGGAGTAAATCCCAGCCCTGCCGTCATTAGTGTGTTACCTCAGGTGAAGTGGGGGAACCCTACAGGACTGTTACAAGGATTAAATGAAGGAATTTAAGTGTGTGCATGTATCTGGCATGTAGAAAATACAGTGTGGTGGGGAGAGAACAGATTCTAGAACCAGACTGCCTGAGTTCAAATCCCAGTTCTGCTGCTTCCTGGCTGTGTGACCCTGGGCAAATCACTTAGCCTGTCTGGGCTTCAGATTTCTCATCTGTACAATGAAGATAATAAAATACCTATCTTTATGGTTGTAGTAAGGATTAAATGAATTGAAATAAAGCTTTTAGATTAATACTTGATATGCTACATAGGTGTCAGCCATTGTTAATCATTGTTGTCATTATAGTTATTATCAACATGATTATTTGCTCTAAGAGGAACTCAGGCATCTGCAGGGTGTGGGGAACCCTGAGCTGGGTCTCCCCTGTTGGGTGTTGTGTCCCCATCATACCCTTAGGACAACCCAGGTTAGGTCAGGGGGATGTGCCCTTCTCTTCCAGCCATAGGCTGCTCTGAGCCCCCAGGGTCTTCAGTCCATATGAGATATTCCCAGCAGGCCATGGGCTGACAGGCCTGGGTTTGGCTGTTCCCTCCAG
Seq C2 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:19
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.191 A=NA C2=0.078
Domain overlap (PFAM):
C1:
PF0003627=EF-hand_1=PD(58.6=63.0)
A:
NA
C2:
PF134991=EF-hand_7=PD(33.3=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
Main Inclusion Isoform:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATCACTCCGGCACACTGG
R:
CTTGTCCCCAGCCAGGATCTT
Band lengths:
240-1988
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