HsaINT0003185 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236920786-236923089:+
Coord C1 exon
chr1:236920786-236920932
Coord A exon
chr1:236920933-236923023
Coord C2 exon
chr1:236923024-236923089
Length
2091 bp
Sequences
Splice sites
5' ss Seq
AGGGTACCA
5' ss Score
2.81
3' ss Seq
TCCTTTGTTTTTGCCAACAGAGG
3' ss Score
9.11
Exon sequences
Seq C1 exon
CACATTCGTGTTGGATGGGAGCTGCTGCTGACAACCATCGCCAGAACCATCAATGAGGTGGAGACTCAGATCCTGACGAGAGATGCGAAGGGCATCACCCAGGAGCAGATGAATGAGTTCAGAGCCTCCTTCAACCACTTTGACAGG
Seq A exon
GTACCACTCTCTACTTATTTGAAGGGCAATACTGGGGACATTAAACAATGTATCTGAAATAATATGCATGCTCTCGTTTTAAGTCTTAAGGCTCCACAACATTTACAGGGAAACAGGATAGTTAATGACAAAAGAAAATAGCCACCAAAACTAAGTGTCCTAAGCTTTGATGTTGCTCAAGGTGACACAAAGTCCAGGTTTGTGTGCTGTTTCATACAGATCACTTAATAGAATGCATTTGTAGTTGACATCAAAGCTGATTTGTTCTAAGTCAAAGTGTATTCTTCACAAAATGTGATTGTTGGCTTTAGGTCATTTCGTAAAGACTTAAATACAAAACTCTGATATGCTTTTCCTAAGCAACTGTTTAGGAAAAGCATCTGGTCATAATTTAACCCATTCTTTCAACATATAAAACTCAGTTTTCTGTTTTAATTAACAAAATTGATGCATGATCTCTTTTAAGGACATGCAGCAATAAAATGGTGATAATTTTTGTAGTAAAAGCATATAAAAAGCTAAGTGCTGCTTTAAAAATATCATCTAGTATTCTGATTTGAATAATATTGAGTAGAACCAATTCTTTATGAGAAAATACTATTTACTAATCCTGTGGCTGGAAGTGAGTGACTATTAAGGCACACTCCAATTCTTTTCTTTTTTTTTTTTAATGAGACGGAGTCTCGCTCTGTCACCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGCTCAAGCAATTCTCCTGCCTCAGCCTCCCTAGTATCTGGGACTATAGGCACCTGCCACCATGCCTGGCTAATTTTTTTTTTTTTTTTTCAGTAGAGACGGGGTTTCGCCATGTTAGGCAGGATGGTCTCAATATCCTGATCTCATGATCCACCCACCTTGGCCTCCCAAAGTGCTAGGATTACAAGTGTGAGCCACCGCACCTGGCCTTTTTTCTTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTCTGTTTTTGAGATGGAGTTGTGCTTTTGGTGCCCAGGCTGGAGTGCAATGGTGTGATCTCAGCTCCCTGCAACCTCCACCTCCCAGGTTCAAGCGATTATCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATATGCCACCATGCCTGGCTAATTTTTTGTATTTTTACTAGAAACAGGGTTTTACTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCTGCCTCAGCCTCCCAAAGTGCTGAGCTTACAGGCGTGAGCCACCACGACTAGCTACGTTCCAATTCTTAAAGATCACTAAAAGGGATGTACCATTACTTTGCATGGAGCCCTGTTATGATTTGCAAATGTCCATCAGTCGTTCCTAAAATGCCTCTGGGCTAGATAGACCAGTCAGATTTGGGCCTTTTGGAGGATTCAGACAGTGGACTTCTGATCAGAGAGCTAGGCATAAGTAAAAAATTATCCACAGAGATGGATATTGACGTTCTTATAGCTTCAGCACACCTTTATTGTGCAGCAGCATGCTGTGATTTGACGTATCTGCATTCATTAAAGCCCAAGTCATTTTTCTTCCAAGGAGGGAAATGATGGATCGTCATCCCTGTACACAACCATCTCTTGTTGAAAGACACTCTCACTCATTGGGGCTACTTTATAGGAAGAAAGCACATTGATTTGAATCCAAGATGATCACAATCTTTTGCAACAAAAGTCCAAGGAGTACAATGCAGAACTTACCATGTTTAGAAGTTTGTTCAAATTAAACATGAATGATTCTTTGTCAGTAGGTGGCAGTAGTGAGCTCCTGACTAGTTCCTTTTGCTGTTTTCTTGAGTGTGTGGTCTCCTTTCGTTTTTGTCTGGTCTTTACCCTCCTCTCCCCTCTTTTTCATTTTTAAGAAACTAGTTTGTAACATCCTTGTGCTGGCTCCATCCTTCTCGCAAGTCAGTGGTGACATTTACGACCTTGGCAGAGCTCAAAGTGCTTCTCTTACCAGATCTTTGTTCAGTTGGTCAAGTAGAGTTGCTCATCTTGCCCTGTGCTCACCTGCTCTGTCCTTTGTTTTTGCCAACAG
Seq C2 exon
AGGAAGAATGGCCTGATGGATCATGAGGATTTCAGAGCCTGCCTGATTTCCATGGGTTATGACCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:18
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.061 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=PD(20.2=42.9),PF088696=XisI=PD(30.8=40.8),PF138331=EF-hand_8=PU(15.4=20.4)
A:
NA
C2:
PF138331=EF-hand_8=PU(37.7=90.9)
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:
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
- 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)