HsaINT0003179 @ hg38
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236744626-236747775:+
Coord C1 exon
chr1:236744626-236744776
Coord A exon
chr1:236744777-236747666
Coord C2 exon
chr1:236747667-236747775
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:ENST00000366578:12
Average complexity
IR
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)
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