HsaINT0003163 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68880810-68882592:-
Coord C1 exon
chr14:68882458-68882592
Coord A exon
chr14:68880990-68882457
Coord C2 exon
chr14:68880810-68880989
Length
1468 bp
Sequences
Splice sites
5' ss Seq
GAGGTGGGT
5' ss Score
7.07
3' ss Seq
GCTTCCTTCCCGGTGAGCAGGAG
3' ss Score
3.09
Exon sequences
Seq C1 exon
GTGCGGCAGCTGGTGCCTCGGAGGGACCAAGCTCTGACGGAGGAGCATGCCCGACAGCAGCACAATGAGAGGCTACGCAAGCAGTTTGGAGCCCAGGCCAATGTCATCGGGCCCTGGATCCAGACCAAGATGGAG
Seq A exon
GTGGGTCCCATGCTGGGAAGCAGTGCTGGGGCTCCCACCCCTCCCCCCCGACACTATCCTAGCCAGCCAGGCTGCCTGTCTCCCTGGGTGGGACCCATGGAGGACTGAGGCCCGGAGCCCACCGTGGGTCTGCTGTTCTGTAGAAGGCTATGGGGGCCTATGTGAAGAAGCCCTGCTGGCAGTATCTGATTTGGGAGCAAAGACATATGAGGACACCACTAAGAAGCTGCCTGTGGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATCAGCCGGGTGTGATGATGCGTGCCTATAATCCCAGCTACTTGGGAGCCTGAGGCAGGAGAATCGCTTGAACCCGGGAGACGGAGATTGCAGTGAGCTGAGATTACGCCATTGCACTGCAGCTTGGGCAACAGAGCAAGACTCTGTCAAAAAAAAAAAAAAAAAAAGAAGCTGCCTATGAAAGTCCCATACTAGGGTCAGTTCCTGAGCGCCCGATCCAGCTTAATCCCCTTGATGTCTCTTGTTGATCAGGCCTCCCCTTCCTCTCCTCCTCCTCCTGAGCAATGAGCCTGGCCAAAGAAAATGATTGATCTTCCCAGAAAGAGAACTGAACCCCAGTAGAGCATAGAATTTTTTTCTGAATTGTGTGGGGTAGATAGTGGGGTGCTTTAGCAGATCAGGAAAGAGGCCCTGCTTGGCTAGAGCATGGCCTCTGAGTTCCTTAAGAACAGAGACCATGTTGAGTTCACATTGGTATGTGTCGCTCCCCTGCACCCCTGCCAGCACATTGTCCTTAGTAGACAGGCAGGAAATATCTACTGAATTGAACTGAGTGGACAGAAAGTGCTTTCACAAACAATGGTTGTTTACATGGATGAATAACAGACAGAAATGGGCATTAGGCCTGGCCTGCAGGGATGAATGGGATTCAGGTGGGCCAGGGCAGGCATCCCAGGAGGCGGAACAGCAGGAGCAAGAGCATGGGTACTGAGGAGGTGAGTGAGGTCTGCCGAGGCTACGAGGATCCTGGTTCAGTGGGTCCCTGAGATGGACAAGACTTGGGAAAGGGCATTTGAATGGCAAGCAGAGGAGTGAATATTTAGGTTAGAACTGACCCTGCATCCCCTTTCTGAGGCTGACAGGTACCCGAGAGTTGGTAGGTATTTCATCCAATGATAACAGTGCTTGTTATATACCTCTGTGGTGCTGTTTCCATACCTAAGAGCACCCATGCTAAAAGTGTCTTACTAATTACCAGTGATGGCCTCCTTAGGGCTGGGATGGGAACTGAGAATCATTTGAGGGCTTAATAAGTGATTTTGGAGGCCCCAGTCCCCACCCTATGGGAGCAGAGTGAGGTGGTCTGACAAGGTGCTTCCTTCCCGGTGAGCAG
Seq C2 exon
GAGATCGGGAGGATCTCCATTGAGATGCATGGGACCCTGGAGGACCAGCTCAGCCACCTGCGGCAGTATGAGAAGAGCATCGTCAACTACAAGCCAAAGATTGATCAGCTGGAGGGCGACCACCAGCTCATCCAGGAGGCGCTCATCTTCGACAACAAGCACACCAACTACACCATGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:16
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.264 A=NA C2=0.430
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(11.6=28.9),PF0043516=Spectrin=PU(20.2=46.7)
A:
NA
C2:
PF0043516=Spectrin=PD(3.9=9.1),PF0043516=Spectrin=FE(64.2=100)
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:
TGCCTCGGAGGGACCAAG
R:
CTCCATGGTGTAGTTGGTGTGC
Band lengths:
302-1770
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