HsaINT0003193 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236894533-236899020:+
Coord C1 exon
chr1:236894533-236894614
Coord A exon
chr1:236894615-236898934
Coord C2 exon
chr1:236898935-236899020
Length
4320 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGA
5' ss Score
8.68
3' ss Seq
GTTATTTTCTCCCCCTTCAGACA
3' ss Score
8.88
Exon sequences
Seq C1 exon
GATGACCCCATAGGAAATATTAACCTGGCCATGGAAATCGCTGAGAAGCACCTGGATATTCCTAAAATGTTGGATGCTGAAG
Seq A exon
GTGAGATGAAAATTGTGTTTGCTGAGTTACAGGAAATTTGAAGACTACAAATGTTATGGCTACACATTGGGACCTTGCAAAATTTTATAGCGAAGTTACATCCGAAGTACTTTGGATTCCTAACAAATTTCTGTCACTGGCCACATAAGTAGTAGAGATTTTCATGTGTAGCTTGTTCATAAAATTTGTTTTTAAAAATTGTACCCTCAAACAAGCCAGCAAAATTACAGGAAAAGGATTTGGTAAAAAGTTCAGCTTTGGCTAAGAAACAAAATGCTTTTATTTATAATTTTAAAAAAACATTTCCTGTATTTATTTTTTCCAACAACATAATGTTTTCTCCCTAACCACTTAGAGACAAGTGTAGCAAATAAATCCCTTTGTGACATACTTAAGAGAAAAAAATTCCTTCCTTCCAGCCAGAAGTTAGAGAATTGAAATATAGAATATGGAGCATTCAACCATCAGTGTACCATCCAAACTTTCACATATTGTTTTTAATTCATCTAAATTTAATTTATTTAGAGCTGAAAGAACTTCCATATATTTTGCACTTCAGTATCACTCATTCTGGGGACTTGTTTCAAATACTTTTTGTCCCTTTTATATGGTGAATTTGTGTGAGCTGTACCTACAGCAGACCACTGAAAGCACAAATGTGTGGACACCATTCGTTCATTTTATTTATTCATGATTTATGCCCTCAAGAAGCTTATATTCATATATTACTTTGTTCGTTATTGTAAATATTATTATTCCCTAGTGGTCCATTACTTCCACTAATTAGTGATGTTGGGGAAAACTAAGGAAATTGATTATAGTCAGTCGTCAATCTTCCATTCCTCTTTGCTTTTGGTAATTGTATTATGGCCTTTGTAACAAATTACTGCAAACTGGGCAGCCTCACACAGCAGAAATTTCATAGCTCTGGAGGCTGTGTCTGAAATCAAGGAGTAGGCAGCTCCCTAAGCCTCTAGGGGAGGATTCTTCCTCGCCTCTTCCAGCTTCTAGAAGCCCCAGACATTCTTTGGATTGTGGCAGCATCAGTCCAATCTCTCCCTCTGTCTTCACACAGCCTTTTCCCCTCTGTGAATATTTTCTTTTCTTTTTCTTTTTATTTTTTATTTTTTATTTTTTATTTTTTTTGAGACAGAGTCTCACTCCGTCGCCCAGGCTGGAGTGCAGTGGTGGGATCTGGGCTCACTGCAACCTCTGTCTCCCGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGCACCACCATGCCCAGCTACTTTTTGTTTTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTACTTCGGCCTCCCAAAGTGCACGGATTACAGACATAAGCCACTGTGCCTGGCCTGTGAATATTTTCTTACAAGGATACCAGTCACATTGCATTAAGGGCCCATCCTACTCCAGCATGACCACATCCTCACTTGATTATATCTGCAAAGATCTAACTTCCAAATAAGGTTACATTCACAGGAGTGCTGGAAGTAAAGACTTCACTGTATCTTTTTGGGAAATGCAGTTCAACCCAAAACAGCAATCTTTCAATTAGAACTCTAATTTTGCTCATTAATTAATCATTTTAATCAAACATCTGTATTATTGGCTATTAATACTTGAATGCATTATTCGGAATTCTACTTATAGTTTCTCTAAAAGTCATTAGAGGGACAAAGTCTATAAAACACTGAAGTAGGAACATAGGAAATTTCCTTTCCTCTTTTTCCATCTGTCCTAAGCTAAGTTTATATTTGTATGCTCTTTCTTTTGACCTTTCATATGATAAATAACTATCTCGAGTTTTCCCACTTGGGTTAATAGCCAGGGTACTAAAGAGAGGAGAAAATAGGCAACAGTTAGTAAATTTTCCAGTTTATTCATGCCTCCCTAGTATCCTAAACTGGGGATGAGTTTCCTATTCACTCACGTAGAATTATTGGCAGGATCATCATCAGTGTTACTCTGGCGCTGCTAATATTCTCTTCTCAGTTCTTTGGTTTTTCCTTAGTCTCTGAGTCCTGATCTGGGCAGATGTCCATTCTGCTCATCCTTCCAGGCAGATGGGGTGTGTTAGCACTGTGTTCATTTCCTCCTCCTCATCTTCCATACTTTTCTTCGTCTTTCCCTTTTAATGGTTCAGAAGAATGCTCACACGCTGTATTATTATCTTTACAGAATAATTGCTCAAAAGAATCTTCCGGCAAACAGTTCTGAACTTGGCCACCTAGCGTGTAGAGCGTGCGGTGGCATCACTGCCTAACAGATTTAGCCACGCATTCCCTGTATTCCTGTATTCCCATGCCTTCTATCAGCAGTTTAAAATTTCTGCTGCTCTTTGATGGTAATGTCAGGTCCAGGTCTCCTCAGATCATGAGTGCCTTTTGGTAAATCCTTGCCTTCCCGTCTGCTGCCATGGACCTTAATTCCTGTCATTTGTGTTGGTCTCTGAACCCAAGTGGGGATTTTCAAGTGACTCATCGGCCCACTCACCCATGAACTGTTATTTGTAGCAAAAACTGGTGAAACTCTTCCTAAACTTATCTACTGTGCTTTTACAAGGTTGTAAAAATTGTTTCTCTATTTCCCTCCACAAATCTTTGTTTGAGGTGCAGACTAGGTTTAGAACTGTGGGTACATTTGCTCCATGAAAACCTGCAGAAGTGATCTTGTGGACCCCTGGGCCCTCCATGTGTGTAGTAATAGAAAGTCCTGGTGAGTGTGCTGGTGTGTGCACTCTGTTCAATTCCGAGGGCCTAATTCTGTCCGTGGAGGTGCCTTTCTTGCTAGGTTAGGGCTCTTCTGGGTTAGCCTTGGCGTTCTCTTTGGCAATTCCTTTGTTTCCTTTGACTATTCTCAAAAGTGCACAGAGAGTAATCCCTTTGCAGGTGTGACTTCTTTGATTTGAGCCAAAATGTTAGGAACATAAGTGTATGGGGGCGAAGGGGGAGGATTCCTGATTCCAACACCTCTGAGGAAGTGCTTAGCAGAAGCCTGCTGGTATTAGAACATCCACGCGGTTAACCTTCTTTTCTCCACACAGATTTAGTATACACTGCCAGACCCGATGAAAGAGCCATAATGACTTATGTTTCCTGTTACTATCATGCTTTTGCTGGTGCACAGAAGGTGAGGATGTAAACCATGAGTCACTGCTCACCCTTCACCTTCTGTGTCTTAATTTTTTTTCAATTGTTTTCCTCTTTTTTCCCCCCTCTCCTCCGAGTAAGGAGACTGTCTGGTTCCCAGGAGGCAGTTGTTTGTCTTTTTTAGTCTAGCTTTCTTTGAAACTTACTTTCTGTTCATGCAGTGGTATGCCGTTCATGTTTGTTTTCTGGAAGATTCTATAGTTACACAACCCCACATCCTTTCTGTTCATAGTCTCTGCAAACCCAATGACTAGGTTTCACCATAGGGAATTGTCAGGTATCTTTTTAACTTCACTCTGACCCATTGACTGACCCAAGTTTATGAACGAGGTTAAAAAGCAACTTACCGAAAAATGGTGTTGCCAAGATGGAGGAAGAAAGGATGTAGGTTTTCATGGTTCTGTTTTCTGTCTTCCTTTTGGCTGTTTCAGCAATTAGTAGAAATAGTAGCGAGTCTTAATAAGCACAAGCCATGTAGACCCTTCTCTTTAGATGTTTTGTTATTCTTGGTGATTTCTATAAGCGGTATGGTAAGTATGTATTGAAGTTATTAAAAGAGCTGCCCTCTCCAGTGAATTTCATCCTCACGCAAGGCACTTTACAGAGTAGAAATCCCCAACAGTTGTTTGGGTGGGGAAGGGGAAGTGGGAAGACAGATAGCCCATTGCAGCCCTGTGAATATTCCCCGCATCTTGCAAAGTGACCTGCGTTCCCCAGAGCAGAGGGGCCGGGTGCCCTGATGCGGTTGGAGGACCGGAGTCACGAGGAAGGGGTAACAAGCTCTGATCTGCAACAGACCAGGTTTCCATGTGAAAGCATTGAATGCACCTTTAAAAGCCCATCAAGGGGTGGGGGAGAAAACAAGCCCTCAGTTTGATCCTTAAAAAACATGCTGGCTCAAACCATCCTGTTCACGAATCATTTCGATACAATATGGCCTTCCTGAGGTTCGGGACCACGGGCCCATGAAACACAGAAATCTGGTCAGTGTAAACCAATTTGTTCTTCCCTCTGTTCTCCCTGGTTTCTCTCCTTCGTCTGTATGTGTGTGGTGTGTGTGTGTGCGCGCGTCCTGTGTTATTTTCTCCCCCTTCAG
Seq C2 exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:7
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.032
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
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)