HsaINT0003164 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68879962-68880989:-
Coord C1 exon
chr14:68880810-68880989
Coord A exon
chr14:68880109-68880809
Coord C2 exon
chr14:68879962-68880108
Length
701 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
GGCCCCTTGCCGTCCTGCAGCAC
3' ss Score
7.46
Exon sequences
Seq C1 exon
GAGATCGGGAGGATCTCCATTGAGATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAG
Seq A exon
GTGGGTGGGGCTGGCCTTGTTCCTCTTCGGGAGCCCGTGGCCCCTTCTGCTCTTTCTCCTGGGTGGGGAAGTCTCCAAGGGAACAGGTCATAGTTGGAGGATAAATTAACTTCACCCCTGAAGCCTCACATCTTCAATTTTTAGTACCTTCTGCTTTCCCAAGGAATGTGTTGAGAATGCACATTTCTAGGCCCCATCTCTAGAATTTGCTTCACTAATTCTGGGGTGGAGTTCAGAATAAGCACTTCTGGTGGTTCTGGGTGCTGGTGGGCTCCAAACACTGGCTCAGGCATCTGCTTTGAAAATGGCTACTTGTTTTAACTGTGCAAGAGTGTGTGTGTGTGTATGTGTGTGTGCGCGCGTGGCTGTGGGGTTGGAGGTTCGGGGAATCACACATTTTTTTGTCTCAATCTTTCCTACCCCCAAATCTGCCCTCCTTCCTGACCTGACCCCCATTGGCAAGTCCTGGTTTCTTTGCTCTCCCAGGCAGAGGCTGCCACCCTGCCCCTTGGTCATCTAGGGTCCTTGTCCTAGTAGGTTGTCCTTGTCCTGGTTCCCCTTCCTCTGGTGACACTCAGCCACACAGAAGGCCAAGTTTGATGGCTTTGGCCATTTTGATGGTTGGGGAGTAGGATGGGCAGGGGCCGCCAGGAGCCCAGGCCTGGGACCCCTTTGCTGACAGGCCCCTTGCCGTCCTGCAG
Seq C2 exon
CACATCCGTGTGGGCTGGGAGCAGCTGCTCACCACCATCGCCAGGACCATCAATGAGGTAGAGAACCAGATCCTGACCCGGGATGCCAAGGGCATCAGCCAGGAGCAGATGAATGAGTTCCGGGCCTCCTTCAACCACTTTGACCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.430 A=NA C2=0.076
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(3.9=9.1),PF0043516=Spectrin=FE(64.2=100)
A:
NA
C2:
PF0043516=Spectrin=PD(20.2=42.9),PF0003627=EF-hand_1=PU(34.5=20.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTCCATTGAGATGCATGGGAC
R:
TCAAAGTGGTTGAAGGAGGCC
Band lengths:
310-1011
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