HsaINT0003190 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236883405-236889320:+
Coord C1 exon
chr1:236883405-236883491
Coord A exon
chr1:236883492-236889232
Coord C2 exon
chr1:236889233-236889320
Length
5741 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
3' ss Seq
TTTCTTGGCTGTCATTACAGAAA
3' ss Score
5.94
Exon sequences
Seq C1 exon
AAATTGTTGATGGCAACGTGAAAATGACCCTGGGTATGATCTGGACCATCATCCTTCGCTTTGCTATTCAGGATATTTCGGTTGAAG
Seq A exon
GTAAAAGACATGGTTAAAAGTCTAATTGTATAATCTGTAAATTGAGCTTGTGAATTAAAATTTGAGCAAGATGTTTTAAAGTCCAACAGTCACTTACATGATTGAATGAGAGACATGTAAGTGGGTTCTTATAAATTTTGTATGTGTATAGGAAAAGACCTCGGCAGCACTGTTTCATTCATGGGGGTGGAATCGGTTTGCAAAAGATGAGCACATGTTCAGAACAGAAGTCGCTTTTTAAAATGAGCATTTATTGAGCTTCTTGATTGCTTATTATACTAGTAAATTTACAGCTATGGCAGAGTTCTTTAGTCTTACAACTGAAACACTTTCTTTCCCCCTGGTATAAAAAAAGAATCTGTTGCAACCCATGTTTGTTATTTCCTTAACTTTCTTCCTCCCTATCTCTCTCCCTCTCTTTTTCTTTTTTCTTCTTTTTCTTTTTAAACAAGACCTCTATTGTCACTGTATCTTTTGGCCTAACTACTGTTTCATCATTATCATAGAATCTTAATCCTTGACACTGCCACTGAAGATAAAAATCTTTAGTCTTTTACACCAACTACACTCCCAAATATTTTGATGAATTCAGCACTGTTGAAAAGTGTCAAATTGGCATTCTTAAAATTGGAACTTTGCCTGTTTGGCCCTCAAATCACAAAGTGTATAACTGCAGAATGTGTTTCAGGGCTGCTGCATTGTCCAACTATTTGGCCCCTTCTGACTCTGTAATCCAGTAGGTAACCAGGTACCTGAGTGGTAAGGGGTGGAGACGTTATTTATAATTCTGCCCAGGCCACAGTAGCCTCTGACTCTGGTTTTTGTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGGCACCCAGGCTGGAGTTCAGTGGCGCGATCTTGGCTCACTGCAAGCTCTGCCTCCTGGGTCCACGCCATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCCCACCACCATGCTGGCTAATTTTTCATATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTCGATCTCCTGAGCTCGTGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGACTCTGGTCTTTTTAAGTGATTTTAGGTACTCATCAACCAACAAACATTAAGAAACAACACTTTGCCTACTTGTACCAGCTGACATGAAGCCTGCAGTACTTGCCCTTATGGACCTTCAAACTCACTTCAATTATTCCCTTCTGGCACCGGAGACCGACTTATGTCATCTAAAAGTCAAACTAAAATCTAATGGCATTAAAACAATTCAAGCTCAGGAATGACAGCCAGCTTGAATTAATACATAGTCTGACTTTGAAAACTTTTGTACAATATAGTTCTATTACAGTACCTTCCTTTATGCTAATGAAAGAAACAAGAGGCTTCCTAAAATTCTTGCTTTATTTAAAAATTGTAAGTTGTAATAATTTTATCAGTTTTTATATACTTCTAAATTTAAATATTTAAACTGTTGAACCCACTTTAAATAAATACTACTTTTAGAAATCTTGGTCACACTGTTGCTGGTCTAGCAAATCCTTTTTCCACAAATATTACAGAGGTGAAGTTGACCTCAAGTTGTTTCTGATTGGTTACAAATTTTAAATTAGTGATAATATGAATTCAAACTTAATTATATTTCAAGTGTAGGTATGAATGGTATTATCCATTAGAGTTTTCCCCAAAATTGTTATTAACATGCCCAAAGCAAGATAGCTAAATCACAATATTTTGTAAAATTTTGCGATAAAAGGCTATATTAATCTGCTCTTCACAAGACTAAGAAATTAAACATTAAAAAATTATAATTTTATTAGGAAAGTACCTACTAGATCTCTTCAAGCAGATGGTTCTGCAGTGTCCAACACAGTAGATACTGTCAGTTTGCTAATTTATATTTTTATTTGTTTTAGTTTCATGGAGTAATTGTTTAACAACCTCATTTAACTTCTGTAAGTCTACAGAAAAATCATCTTTATTTGTTTTAATGATGTGTGGTATGTTGAAAAATTCATTGTTATTAGAATCAAAGAAACAATTCTTTGAGGAGTGAGTTTCCTTCAGCAAAATGATGGGCCTCTTCCAAGAAAGAAAATGAGAGATTAGGCCGGGCGCGGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCCAAGGTGAGTGGATCATGAGGTCAGCAGTTCGAGACCAGCCTGGCCAACATGGTGAAATCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCATGTGCCTGTAATCCCAGCTACTCAGGCGGCTAAGGCAGGAGAATCGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGACCACACCACTGCACTCCAGCCTGGGTAACAGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAAAGAAAAAGAAAATGAGAGATTAATATATCTGTTGATGAAGGCAGTGCAGATGTAAGTAGATGATGGAGCTCCTTGGGGTGTCATTCAGTGCTTTGTGATGCAATGAGAAATGTTACTGCCAATCTGTAACATGCTTTTTATACCATGATCAGGGTTTTGTGTGTGGACCTGTTTGTGCCAAATGGCCGCATTTCCACTTTCCCATACACCTTTCGGGAGTAGGTTTTCCAGTAATGTACGTAATTCACACAAGGTTGTTAACCTTTTGCTGAAAGCCTAAAACTGGATTTGGGGTTGGAGGAGGGTCAGCTTTGATTGTAGTAACCAATTGAAGAAGGAAAAAGCCTTGTTCGGCATTCATGGCCCAAGAGTGTTCACACATATTCAGGCAGAAATTAAGTGAAACTCCGTGACTTGTAAATCTAAACTTCAGTGGCAATTTTAAGGTGTTGTAGATATACTGTACCTTTGTTTGCTTTTCTAACCTGGTAAGTTTTATTTAAACTCTATTAAATACATCCCATTATTTCTTCCTGATGTACTTCTTCTTCTTAATTTCATTGGTCAGGACTGCAAAGACAGGCAGAACAACTGGCTGTGGAGTTCCAGATTTCAATGTCCATATCAATTCACATTTTAATTAAGTCTTAACAGTTTCACTTTATTTTCCCTTAACTAGCACTTGCTAATTAAAAGACATGCACAGGAGTTGTTCAAGTTATAGCACATGGAACTTTAGGGGTGTGTGTATTTTATCTGGGTTATGGGTCCAAGAAAGTATGAACTAAAATGGACAGTTTTTTGTTTTGTGTTGTTTTGTTTTGTTTTGTTTGAGACAGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGTGCAATCTCGGTTCACTGTAACCTCTGCCTCCCAGGCTCAAGCAATTCTCCTGCCTTAGCCTCCCAAGTAGCTGGGATTACAAGTGCCCGCCACCGTGCCCGGCTAATTTTTGTATTTTTAGTAGAGATGGGATTCGCCATCTTGGGTCTTGAACTCCTGACCTCAGGTAATCCACCAGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCTGGCCTAAAAATGGACAATTTAGATAAATAATTACAAAATTATTTTCATTTGAAAAAATCAACTTCAACCCCTTCCTAAGATGGAAGGCCCCATGTTAGTTAGGAATCGACATGCTTTAGGGAATTTCTAAATTGTTAACATTTAAATATAGGCGGAATCCTAAGTTATATAAGTGGCTTTGAGGAGCTGTTTAGATGTGTGTCGGTTTGGGTCCTCCAGGAAGCAAGTGCCAAGACTTACTAGAAATTGTTGTAGTCTTTCCAGGCCTTTATAAAAACATGCCATAGCATGGATGGCTTAAACAGCCGACCTTTATTTTCTCACAGTTCTTGAGGCTGGAAGTCCAAAATCAGAGTGCCAGCATGGTCTGGTTCTGTGAGGATCCTCTTCCTGGCTTGCAGATGGCTGCTGCCTTGATGTGCCGCACGTGGTGGGTGGGGGTGGGGGAGAACCTGCCAATGAGCAGGCTCCCTGGTGTCTCTCTCATGAGGACACTAATCCGATCATGAGGGCCCCACCCTCGTGACCTCATCTCACCCTAAGCACCTCCTAAAGGCCCCATCTCCAAATACAGGCACATTAGGGTCTAGGGCTTCAACATATGAATTTGGTGATGGGCGGGAAGACACCAACATTGAGGCCATACCAGAAGTGCAGGAGATTTTTTGGGGAAAATGCCTATGCAGGATGAAGGGGAGGGAGCAGGAGATGCCTGAGGAGCCTTCAGACCAGAGCTCCTGGCTGACACCTGGGCCGAGAAGAGGAAGGGAGGAGGCTTGGGGAAGAAGGTCTCCGACTGCAGTGCAGTTCTGAGGTTAATTTCGCCAGGCTGATGGAGTCTTTAATCCTAGGCTGCCCTGAGAGGAGTCTCACGTCGCATAGGGGTGTCTCAGCTCTGCTGCTCACCCCCCAGTCTTTGGCTGGAGCAGCTCTGGGGAATGTGGCCTCAGTGGGAATGCAGGGGTGTGGTGCATTCAGGGGGCTGCAGCTGGCACGTCAGTTGCCTGCCCTGTGCTCGCAGCTGAAGCCGTGGGACGTCTGAGCGGCACATTTTTATGGTCATCACAGATGGTGCTGGGTTTTTCCTTTTTTTTTTTTTTTTTTTTTTGGTGAGAAGTCAATTGGCCAAACTTGAAATTTACCAATAAAACCCTTTAAGTGTTACAAAATCACTGGGCAAAGGAATACATTTGAGATGTGGTAGCATCTGTGAATTCCATTTACCTAAGAGTATGAATTACAAACCAGATGAATGACAGATTAGTTGTCATCAACTACACACAGTTTATTTTTTCATGTGAGTTGCACTGTAGACTATTTATGTTTGCATATTTTTCAGGATTGTGTACAGTAAACCTTAAGTGAATACAAAGGATCCAATTGTCCTGTAAGACTCACTTCAATTACAGATTGTGCTCAGTATTAAACTTTGCTAGTACTTTCAGGATGCAGTCAATCAAGAGGCAGGGAAAGGTCTGTCAGCATCCACAGCCTCCTTTTCAAATTGGACACTTAGTCTCTGGTCCGAATAATAGGTGCCCCCAGTGTCACCTCACACAATGGGGTATACACAGTTTTTAAAAATTTATTTTCAGCTGGGCACAGTAGCTCACACCTAAAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACGTGGCAAAATCCTGTCTCTACTAAAAATACAAAAATTAACCGGGCATGGTGGTGGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCTTTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCCCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTGTGCCTCAAAAAAAATTAAAAAAAGTATTTTCATTTAAAAAGGGGCGAGTCACCAACCACCCTGAAGTCTAGTTTTAGTGTCTTTTTATGTTGGAGCTTGTGGCTGCTCCTGCATTGTCCTTTTGAAGTCCCTAAGTGTCATCAGAATTTACTCACCAAGATCAGGGTTCTGGCTCCTATGCACTTGCCGAGGCTGTAGGAAGAGACCCCCTGGGTGATCGACCCCCTGGGAGGTCTGTTTCAAAAGTGACTAGGAGCTAAGTGAACTAAGCGGCATTTCCCTGGGGCCACTTTTTCTTGGCTGTCATTACAG
Seq C2 exon
AAACATCTGCCAAAGAAGGTCTGCTGCTTTGGTGTCAGAGGAAAACTGCTCCTTATAGAAATGTGAACATTCAGAACTTCCATACTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:4
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(20.6=70.0)
A:
NA
C2:
PF0030726=CH=PU(24.0=83.3)
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
- 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)