HsaINT0003185 @ hg38
Intron Retention
Gene
ENSG00000077522 | ACTN2
Description
actinin alpha 2 [Source:HGNC Symbol;Acc:HGNC:164]
Coordinates
chr1:236757486-236759789:+
Coord C1 exon
chr1:236757486-236757632
Coord A exon
chr1:236757633-236759723
Coord C2 exon
chr1:236759724-236759789
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:ENST00000366578:18
Average complexity
IR
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:
PF0043516=Spectrin=PD(20.2=42.9),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