HsaINT0003217 @ hg38
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38717086-38718074:+
Coord C1 exon
chr19:38717086-38717316
Coord A exon
chr19:38717317-38717926
Coord C2 exon
chr19:38717927-38718074
Length
610 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
3' ss Seq
CTGCTCCTGCCCTGCCCCAGGAC
3' ss Score
8.55
Exon sequences
Seq C1 exon
CTCCTGGAGTGGATCCGGCGCACCATCCCCTGGCTGGAGGACCGTGTGCCCCAAAAGACTATCCAGGAGATGCAGCAGAAGCTGGAGGACTTCCGCGACTACCGGCGTGTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGCCTCAGCAACCGGCCCGCCTTCATGCCCTCCGAGGGCAAGATGGTCTCG
Seq A exon
GTGAGCACCAGGATTCACATGGGAGCAGCTGTGAGGGGCAGAGGCAGCCCTAGAACTGCCTGTGGGCAGTTTGGCCAGCGTAATCTTTCCTAAGTTGTTGATGTCCTGTGGGACATGGCATGGCCTTTCGGATGCAGTGGTCGGGGAGGGGTGCACTTCACTCGGCATTGTGCTCCCCTTTGGCCCTCACTCACTGTATTTTACACCCAGGGTTTTATACGCATCCCAAATCCTTGCCACGGGTTGTGTGGGTGTGGAGTGGTGTGAATTTGGAGCCGTGGTCTGCCATGATGGCATGACCGCCATGTGCTTGAGGCCCTTCATCAGCGGAGGGGCAGTGCGCCCTGGACGGTACCACCTCCCCATCTATGGTATTCATCCATTCATTCATGCACTCACCCGTTCACGCATTCATTTTGTTAATCCAGAATTGATTGTACCTGCTGAGTGCTGGGGGGCCCTGTGTAGGCATCCAGGTATAATAGCAAAGCATGACACAGACATGACCCCAGCCAAGTTCTGCCACCTTCCCATCAGCATCCCTTGGAGACATCCCCCTGGGTGCCTCCACTTCCTTGTGATAGCCCTGCCTGCTCCTGCCCTGCCCCAG
Seq C2 exon
GACATCAACAATGGCTGGCAGCACTTGGAGCAGGCTGAGAAGGGCTACGAGGAGTGGCTGCTGAATGAGATCCGCAGGCTGGAGCGGCTCGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402:ENST00000252699:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.091 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(68.5=100)
A:
NA
C2:
PF0043516=Spectrin=PD(18.9=42.0),PF0043516=Spectrin=PU(17.0=36.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCCCCTGGCTGGAGGAC
R:
CTCGTGGATGGAGGCCTTCT
Band lengths:
343-953
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