HsaINT0003217 @ hg19
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin, alpha 4 [Source:HGNC Symbol;Acc:166]
Coordinates
chr19:39207726-39208714:+
Coord C1 exon
chr19:39207726-39207956
Coord A exon
chr19:39207957-39208566
Coord C2 exon
chr19:39208567-39208714
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-ACTN4:NM_004924:10
Average complexity
IR-S
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:
PF131021=Phage_int_SAM_5=PD(58.0=66.2),PF0043516=Spectrin=FE(85.4=100),PF0103115=Dynamin_M=PD(76.1=70.1)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)