HsaINT0003160 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68884168-68884883:-
Coord C1 exon
chr14:68884775-68884883
Coord A exon
chr14:68884309-68884774
Coord C2 exon
chr14:68884168-68884308
Length
466 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
ACCCTATTTGGCACTCCCAGCGG
3' ss Score
4.65
Exon sequences
Seq C1 exon
TGAGCTGGACTATTATGACTCACCCAGTGTCAACGCCCGTTGCCAAAAGATCTGTGACCAGTGGGACAATCTGGGGGCCCTAACTCAGAAGCGAAGGGAAGCTCTGGAG
Seq A exon
GTGAGAGGTCCCAGAGGGAGATCTAGGCCCATATCCGGCAGCCCTGTGGTGCCCCTTCCTGCTTCTTGACTCTCTTTGCTTTGGGCTAAAAGACTCTATGGCTTCCCCAGACCTCCCCCAACCCTGGCCTAAATGTGGAAGATTCACTTTGGCACAGGATTTGGACTTTGCCCTCATGGCGATGCCTCCTCTCTTGCCCTCACATGTCTCATCCTCCCAGTTTAGTGTGCTTTACAGCCCAACCCCAGCCATTTGAGAACCCTCCTATTCTACACACCAGACTCTGGGACCCAGGCCAGGTGACTGTGATGTGAGATGGTTCATACAGCTGGCAGGAAGAGCTTGTTCTTTCTGCCTGATTGAGTCAGTGCTTCTAGACCTGGGGCTCACCAGGAGGATCTTGATAGGAGTGGGGGATGATTCTGGACATCACTGTACTAACCCTTACCCTATTTGGCACTCCCAG
Seq C2 exon
CGGACCGAGAAACTGCTGGAGACCATTGACCAGCTGTACTTGGAGTATGCCAAGCGGGCTGCACCCTTCAACAACTGGATGGAGGGGGCCATGGAGGACCTGCAGGACACCTTCATTGTGCACACCATTGAGGAGATCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:13
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.005 A=NA C2=0.012
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(34.0=100)
A:
NA
C2:
PF0043516=Spectrin=PD(0.1=0.0),PF0043516=Spectrin=PU(32.1=76.6)
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:
AGCTGGACTATTATGACTCACCCA
R:
GGATCTCCTCAATGGTGTGCA
Band lengths:
246-712
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