HsaINT0003194 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236898935-236900514:+
Coord C1 exon
chr1:236898935-236899020
Coord A exon
chr1:236899021-236900421
Coord C2 exon
chr1:236900422-236900514
Length
1401 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTC
5' ss Score
7.04
3' ss Seq
TTACCTATTGTGTTTTACAGGCC
3' ss Score
10.93
Exon sequences
Seq C1 exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
Seq A exon
GTACTCAACACTTGTCCGTCCGGGCTGTTGTGTTACTCTCTGTTGGTTTTAGTTGTGTGTGCATACTTGAGTGTGTGTTTGTGCGCTTCACATCTTACCTTGGAATCTTTCTGAGTGTTTTCTAATAACCTCATATGGCAAGTTCTAAACTGTGAAAACTTTTTTTTAACAGCTTTAACTTTAGACAGTTCCTGAAATGTTTTTATGTGTTTTACTTTTAATGCATTTCCTTTATTTCATTAGTAAGTTGTGGAAAGTATTTGTGCTTTAGAAAAAAAATGCCATGAAAATTGAGCCACATGCATTGAATGGTAAAGGGGGAATGTGGCAAGGAGAAATGAATGCCTTTCCAACCCGGCCTTGTTCTCTGCTTAGAAATTGCCTTCACAGTTCCGTGATTTGGTCTAACATCCTTCAAGACTAATCTTATTTTAAGTGAAATAGTGGAGGGGATAACAGAGTTGGAACCTCAAAAAATTTCACATTTCTCAAGACAAATAGCCCAAGGGACCTTGAGGAAGAATGGCCCTCAGCTTTCTGCATATTCACCTGTTTCTGTTCCTCTCCTTGGAGGATCTTGATAGACTGCAGTGGGCGGAGTATGCATTATTTCAGTGACCGCTGTGAAGCCCATCACTGGGAAAGGATGCTAACAGGCTGATGAGGACTTTAAAGGAAAGGCCTGGGGACAGGCTGCGGGCCCAGAAGCCAGTTAGGCAAGCTTCTCTTGTTCCATCAGACAGTTATGGTTCAAGGCGCTTTGCCACTCCTGCCCCAAGTTCCTTTCCACGAAAGATGACAGAGAATTGTGTATTACCTCAATGACTTCTCATCTAGGTTAGACAAAGTCTTAAAGCACACTCAGCTCTGTGGAAGGATCCCCCTCCAGAAAGTTCTACATGTTCATATCAGGAGATGAGGAGGTCTTCAGTGAATTCAAGTGCAATGGTATATCTGGATTTTCCTGCCCCAGTTATTTTTGCCTTGATTTCCAAAGGCTAATGTTATTCAGGGAGTCTCCATCCCATCGTCATGAGATCAGTGGAGAGTTCAGGTGGACATTCAGGGACCCAAGATCTTGGTTTCCTGGACCCAAATATTTCTGTGACTAACTTGCTGGATGTTTACCGAGTTTGTGTTTTAGACTAATGCTCTCTCCCCGTTATTCCCTACAGTCTAATCAGCCTGCCGTGTAAGTCTGTGTGAAAACTGTAACAAAGGTGTGAAATGATTCATAGTACGCATAAGCCATGCCTTCAGTCTGACCGCACCCTAAGCTAGACTCTGCACCGTCTACAGCACGCCACCCTCCTCGTCCCCTCTCATCACCCACCTCGTTCCATGCTGTGTGTGCGCATTCCCGTCGACAGAGCCGTCCTGTTTACCTATTGTGTTTTACAG
Seq C2 exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:8
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.032 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF0043516=Spectrin=PU(9.9=35.5)
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
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)