HsaINT0003179 @ hg19
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin, alpha 2 [Source:HGNC Symbol;Acc:164]
Coordinates
chr1:236907926-236911075:+
Coord C1 exon
chr1:236907926-236908076
Coord A exon
chr1:236908077-236910966
Coord C2 exon
chr1:236910967-236911075
Length
2890 bp
Sequences
Splice sites
5' ss Seq
CAAGTATGT
5' ss Score
7.44
3' ss Seq
TTTATTTTCACTTTTAATAGTGA
3' ss Score
5.79
Exon sequences
Seq C1 exon
GCAAAGAGCAGATCTTGCTGCAGAAGGATTACGAGTCGGCGTCGCTGACAGAGGTGCGGGCTCTGCTGCGGAAGCACGAGGCGTTCGAGAGCGACCTGGCAGCGCACCAGGACCGCGTGGAGCAGATCGCAGCCATCGCGCAGGAGCTCAA
Seq A exon
GTATGTGCAGATGCCCTCCGTCCTCCCGGGAGCCCCTGGGATTCCACAGAGAGGGGAGAGAAAGGCCTGCCTTGCCTTTCCTGACTAAACGCAGAGGGAACCACGCTGGAGGCACTCTGTGCAGGGATTCTCCTTGTTTCTTTAAATGTAGAAACAGATTTTGGTTCTTAGATTGTGGTAGAATCCCTATGTCCTACCATCCAGCAGCACCCCGGCCCTCAGCACAGGCAGCTCCGCTTCCAGCAAGATGAGAAATAAGTCTGGAATATTGGGGCCCAGAAAGCTATGGGAAGGCGGCCTCACCCAGGCCAGGTGCAAGAAGCAGAATATAGCCTGTCCTGAAATCAACATAAAACCAAGCAAAACAGAGGGCACTGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCGGGCGAATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATGCAAAAAATTAGCCGGGCCTGGTGGCGGGTGCCTGTAGTCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGGGACTCCGTCTCAAAAAAACAAAAAACAAAACAAAATAAAACAAAAAAGTGGGCACTGCCTCACGTGTGCAGAAGAGACGTCAGGACCCCACTTTGCTTTATCATCCCCTAAGTGCTGTTTCACTTTCATGCGTTTGGTTTTATGGGAAGAACTGACACGACATTTGAGCCTAGGCTGGATTTGGCACGGAGTGAATGTTCTCAGTTCCCGCTCTGTGTAGTGTGAGCCCTGGGGTGCGGCTGCCCTCAGGGAGAAGAGCCTCCATGCCGTGTTTCTGAGCTTTCTTCAGGTCCTTTTCCCTTGTAATAAAGACAACATTTTATTTCCTACTCCTTTCCCCACCATTATAATCACTGATACATCTGTAGAATGTTTAGAGCCTGTCACATAATGGTAACTTCAAAAATTAAATAATAAAAATTTATTTCAATATATTACGTTTTAAAACTGCCACGTTCTGGCTGGGCACAGTGGCTCACGCCTGTAACCCCAGCACTTTGGGAGGCTGAGGTGGGCTGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCGTATCTACTAAAAATACAAAAAAAAATTAGCCAGGCATGGTGGCGGGCACCTGTAGTCCCAACTACTCAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCGGGAGGCGGAACTTGCAGTGAGCCGAGATCAGGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAAAAAAAAGAAAACGAACTTAAGCTTTAAGAAAATGGATTTGGTAGGGTAGGAGGGGACTTTTCAAAGTTGTCTAATCCTGGACTGTTTTTGAAGCAGCCTCCTGAAGATGTCTTTAAACTTCCATGGTTCTTGATTTATATCTGAATGAAAAAGGTGATTAAGTTTTGTACAGGATTCAAACTTGTTATCCCTGGAGGTACTGGGTTAAGCTTCTAGTTAAGAATTTGCTTTAGGTTGGGTGCAGTGGCTTATACCTGTAATCCTTGTACTTTGGGAGGCTGAGGAGGTAGGACTGCTTGAGACCAGGAGTTCGAGACCAGCCTGGCAACACAGCAAGACTCCATCTCTAAAAAATTTTTGAAAAGAGCCGGGTGTAGTGGCACATGCCTGTAGTCCCAGCTACTTGGGAGCCTAAGACAGGAGGATCACTTGAGCCTAAGAGTCTGAGGCTGTAATAACGTATGATCACCCCCACTGCACTCCAGCTTGGATGACAAAGCAAGACCCTGTCTCAAAAAAAAAAAAAAAATTGCTTCAGTGGTGTGCACAGAAAGACCCCAGGTAGAATGCATAGATGGATCTGGCAAGGAAAAGTAAGGATTTAGTGAGAAATCATTTTGCCCTTGCTTGTCACTCTAGTGGCATTAGATGAGTCAGAACCTTTCTGTCTCTAAGTGGAAGGGCTCAGTTCGGCCCCATTTCAGAAATCCCGCTATGTTAGATAAAGTCATGGTGCCATTCTGGACCTGATACTCTACCCAGTGGTGAGGCCAAGTGCCCTTCTAGGGAAGCCAAGGACACAATGTGGCGCAGGCTGACTCTTCCCTCCCCAGTCACTGTGGCTGCATCCTGGCCCACAGGACTGTCCTCCAGGTCAGAGAGTGATGTCTTCCGACCTTCACTCATAGGGACATTGCCACTTAGAAATAATGCTCTCTGGGGGCCTCTCCAAGAAAAGGAAGGGGAAATAAATTGAGCCTGCGGCATTAAGAAGACAACGGTTCTCTCTGTTTAGAAATCTGTTGGCCAGCGAAAGTTTTATGAATTCTTCTTGTGATTTATCTGAGAGGAGTGATGTTTACAGTGATGACAGTTAACAAAACCCTGAAATACCATCCCAGTTCTCTATCAGATTTTTATTTTTTATTTCTTTTATGTGTATAAATGTAGGTGGGGTGGGGCACAAGTGCAGTTTTGCTACATGTGGCCAAGTCAGGGTTTTTAGGGTAGACATCACCCAAATAACATACATTGTATGAAATCACACTAAGTAATTTTTCATCATCCACCTACCCTTCCACCCCCTCACCCTTCTGAGCCTCCACTGTCTATCAGCCCACTCTCTATGTCCATGTGGATACATTTCAGATGTTTTTGTTTTTAAACTTCCCTGTTATTTTTCTTTTTTAGCCCATGTTCATTTTCTCTCATCATCTGGGAAAGTTAATCTTTATTTATTTTCACTTTTAATAG
Seq C2 exon
TGAACTGGACTATCACGACGCTGTGAATGTCAATGATCGGTGCCAGAAAATTTGTGACCAGTGGGACCGACTGGGAACGCTTACTCAGAAGAGGAGAGAAGCCCTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522-ACTN2:NM_001103:12
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=0.000
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(47.2=100)
A:
NA
C2:
PF0043516=Spectrin=FE(34.0=100),PF050648=Nsp1_C=PU(11.7=37.8)
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)