HsaINT0003194 @ hg38
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236735635-236737214:+
Coord C1 exon
chr1:236735635-236735720
Coord A exon
chr1:236735721-236737121
Coord C2 exon
chr1:236737122-236737214
Length
1401 bp
Sequences
Splice sites
5' ss Seq
CAGGTACTC
5' ss Score
7.04
3' ss Seq
TTACCTATTGTGTTTTACAGGCC
3' ss Score
10.93
Exon sequences
Seq C1 exon
ACATCGTGAACACCCCTAAACCCGATGAAAGAGCCATCATGACGTACGTCTCTTGCTTCTACCACGCTTTTGCGGGCGCGGAGCAG
Seq A exon
GTACTCAACACTTGTCCGTCCGGGCTGTTGTGTTACTCTCTGTTGGTTTTAGTTGTGTGTGCATACTTGAGTGTGTGTTTGTGCGCTTCACATCTTACCTTGGAATCTTTCTGAGTGTTTTCTAATAACCTCATATGGCAAGTTCTAAACTGTGAAAACTTTTTTTTAACAGCTTTAACTTTAGACAGTTCCTGAAATGTTTTTATGTGTTTTACTTTTAATGCATTTCCTTTATTTCATTAGTAAGTTGTGGAAAGTATTTGTGCTTTAGAAAAAAAATGCCATGAAAATTGAGCCACATGCATTGAATGGTAAAGGGGGAATGTGGCAAGGAGAAATGAATGCCTTTCCAACCCGGCCTTGTTCTCTGCTTAGAAATTGCCTTCACAGTTCCGTGATTTGGTCTAACATCCTTCAAGACTAATCTTATTTTAAGTGAAATAGTGGAGGGGATAACAGAGTTGGAACCTCAAAAAATTTCACATTTCTCAAGACAAATAGCCCAAGGGACCTTGAGGAAGAATGGCCCTCAGCTTTCTGCATATTCACCTGTTTCTGTTCCTCTCCTTGGAGGATCTTGATAGACTGCAGTGGGCGGAGTATGCATTATTTCAGTGACCGCTGTGAAGCCCATCACTGGGAAAGGATGCTAACAGGCTGATGAGGACTTTAAAGGAAAGGCCTGGGGACAGGCTGCGGGCCCAGAAGCCAGTTAGGCAAGCTTCTCTTGTTCCATCAGACAGTTATGGTTCAAGGCGCTTTGCCACTCCTGCCCCAAGTTCCTTTCCACGAAAGATGACAGAGAATTGTGTATTACCTCAATGACTTCTCATCTAGGTTAGACAAAGTCTTAAAGCACACTCAGCTCTGTGGAAGGATCCCCCTCCAGAAAGTTCTACATGTTCATATCAGGAGATGAGGAGGTCTTCAGTGAATTCAAGTGCAATGGTATATCTGGATTTTCCTGCCCCAGTTATTTTTGCCTTGATTTCCAAAGGCTAATGTTATTCAGGGAGTCTCCATCCCATCGTCATGAGATCAGTGGAGAGTTCAGGTGGACATTCAGGGACCCAAGATCTTGGTTTCCTGGACCCAAATATTTCTGTGACTAACTTGCTGGATGTTTACCGAGTTTGTGTTTTAGACTAATGCTCTCTCCCCGTTATTCCCTACAGTCTAATCAGCCTGCCGTGTAAGTCTGTGTGAAAACTGTAACAAAGGTGTGAAATGATTCATAGTACGCATAAGCCATGCCTTCAGTCTGACCGCACCCTAAGCTAGACTCTGCACCGTCTACAGCACGCCACCCTCCTCGTCCCCTCTCATCACCCACCTCGTTCCATGCTGTGTGTGCGCATTCCCGTCGACAGAGCCGTCCTGTTTACCTATTGTGTTTTACAG
Seq C2 exon
GCCGAGACAGCGGCTAACAGGATATGTAAGGTTCTTGCTGTGAATCAAGAGAATGAGAGGCTGATGGAAGAATATGAGAGGCTAGCGAGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000077522:ENST00000366578:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.016 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF131021=Phage_int_SAM_5=FE(28.8=100),PF0043516=Spectrin=PU(9.9=35.5)
Main Inclusion Isoform:
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