HsaINT0003233 @ hg38
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38709395-38710342:+
Coord C1 exon
chr19:38709395-38709476
Coord A exon
chr19:38709477-38710256
Coord C2 exon
chr19:38710257-38710342
Length
780 bp
Sequences
Splice sites
5' ss Seq
AGGGTAAGT
5' ss Score
10.45
3' ss Seq
CCCTTGTTGTTCACTTGCAGACA
3' ss Score
10.94
Exon sequences
Seq C1 exon
GACGACCCTGTCACCAACCTGAACAATGCCTTCGAAGTGGCTGAGAAATACCTCGACATCCCCAAGATGCTGGATGCAGAGG
Seq A exon
GTAAGTCATCTCTTCTGTTCAGCCACCACTGTGCTTCCTGATGGCCTTTTCTGTCCAGGGCTGGCCTCGGGCAAGGGGCTGTGGGCACATCAGAGCTTTGGGTCACCTTGGGGAGCTGGCAGAGCCAGCAAGAAGGGCTGAATGATTCTGGGTGAACTGGGGACAGCCATGTCGCCCTGGGAGACAGAGCAAGGGTAGCCTGGGCTGGCCAGATGCCTTCAGGGATGAAGAAGCGTATGGGGAGGGGGAGCTGAAGGATCAACTCTCCTGAGGGTGCATCTCCTCAGGGCCCAGGAAGGGCAAGGTGGCTGAGGAGGGGTGCTTCAGGCTTCCTGCGAGCAACCCTGGCCTCTCCCTCCCTACCTGCAGCAGGCATGGAGTATGGAGCCCGACAAAGTGGAGTGTTTTGTTTTTTCCTTTTCCGGCTTTGCTCCATTTCCCAGCCATGCACTGCCCCATTTCCTAGCCATGCACTGCCCCAGCTGGGACCTGTGTCTCTGGCCTCTGGTGGCCCTTGGAGTTGACTGTCCTGCTGCTCCTTGAGGCCATTCTCAGAGAGAGGAAGTGGCCTCATTTTAATCCGCTTCCCACAGCCTTGTCCTTTCCAGACCCATGGGAGAGGGAGGGGCTGAGGGTGTGGCTGAGCCCACCCAAGTCACGCGTCACTCTGCAGGTCCCTCTCCCCCAAGGCCGTGGCCTTGGGAGCCCGTGGATCCCAGTGAGTGACGCCTCCACCCCCCGCCCTACTCGGGCAGTTTAACCCTTGTTGTTCACTTGCAG
Seq C2 exon
ACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402:ENST00000252699:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(26.0=100)
A:
NA
C2:
PF0030726=CH=PD(23.1=82.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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