HsaINT0003234 @ hg38
Intron Retention
Gene
ENSG00000130402 | ACTN4
Description
actinin alpha 4 [Source:HGNC Symbol;Acc:HGNC:166]
Coordinates
chr19:38710257-38714561:+
Coord C1 exon
chr19:38710257-38710342
Coord A exon
chr19:38710343-38714468
Coord C2 exon
chr19:38714469-38714561
Length
4126 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCG
5' ss Score
9.67
3' ss Seq
GACTGTGTGCTCCCCTCCAGGCT
3' ss Score
9.47
Exon sequences
Seq C1 exon
ACATCGTGAACACGGCCCGGCCCGACGAGAAGGCCATAATGACCTATGTGTCCAGCTTCTACCATGCCTTTTCAGGAGCGCAGAAG
Seq A exon
GTACCGAGCAGGGCCAGGCAGGCCCTCCTCGCCGCCACCGCGCAATGCCGCCGCTGCCTCTCGCCTCCCGTGCTCACCTCATTTCTCTTGCAGACGGCAGTGGCCTCTCTCCAACTGGAAGCCACCCCCAGCTCCCTGGCGTTGCTGCCCCCTCAGCCTTAGCTCACACACCTATTGGGTACCTCATCTGTGCCAGGCTTTTCCAGGCATTGAGGATGCCCTGGTGACTGAGTCAGACAAGGTCCCTGTTCTCAGGGCACTTCCATGCTAGTGGGAGAAACATACAGCAGGCCTGTCACAGGAGTGGAATAGAGAAAATGGGGCCAGATGGGGGACAGAGATGGCTGGGGTGACCTTCAGCTGGTGCTGTCAATGTGGAGGGGTGAAGTGAGCAGGTACTTGCAGCAGGAGCTGCTAGATGCAGGCTGGGGCACAGGTGTTCCAGGCAGAGGGTGAAGCACTACGAAGGCCCTGAGACAGGAAGAAGCTTGGCGTATTCAGGGACCAGCTAGAGAGGAGTGAGTGACACGCAGTGATGGGTCAGGCCCAACAAGACCCTTGTGGTGTGGGATAAGAAATTCATGTTCCACTCTGAGGGCCATGGGAGCCCCTTAGGGTCTTACTCCGTGGTGGGAGCTGCTCACTCACATTTTCAGACAGATCATTTAGCAACTGACTCCTCCAACCCAAAACAAAGCTGCCTTTATAGGGCCCACAGCTAGTCTGTCTCCAGCCCAGGCCGGTTAGAAAAGGAATGCACCCTATTCGGACTCCACAAAACCCCGCAAGGCATGTCCACGCAGGCCTGGGGCTGGCTTCCAGTCCAGAGCAAGTGCTCTTCCTCCTGCATGAGCCTCAGGCCGGCCCGGCCGCCCTCCCTGCGTCTTTCACTCTCTCCTGCCTCTCTCTCTCTTTCTCTCTCTCTCTGTGCAGATATTGTGGGCACTCTGAGGCCAGATGAGAAGGCCATCATGACTTACGTGTCCTGCTTCTACCACGCTTTCTCGGGGGCTCAGAAGGTGAGCTGGGCCAGGCACACCTCGCTGCTGGGGCTGCAGACCTGCCTTCACCACCGCCCTTGCATCACCGCTGGCCATCTGTGGTTGGAGCCCTGGCCAGGCCGTGGGCCGCCACACCACACAGACTGACCCTGCCGGCCTCTGACTCGGAAGGTCCCCTGGGGCAGGTTTCCCGCCTGGCCGGTGCTGGGCCTGTGCTGAGGAGTCACAGACCTCTGTTTGAACACAGCCCACCCTGGGAGGTGGGTGGTGGCATCCTAGGCTCTCAGGCGGGGAAACTGAAGCCCTGCATTACAGTCAATGGCAGAGCTGGGATTTGACTGCCCGGCGTTCCCACTCGCCCTGTCCATCATCTGCACCAGGGCTGCCTGCCTGCCCCTGCCAAGCCCTTCGTGGGGAGCACTGGGCTTTACCCGTTTTGCAGCTCCTTCCTGCCAGGAAAGGCTCAGCATGTGCAGCCCAACCTGCACTCACGGTCCCAGCCCTCCAGAGGCCAGGCAGAGCCCACAGAGCTTGCGTGGCAGTGGCCGCCCTCCTGGGCCCAGCTGACCTCATGCTGCCTCACAGCTCCTGCCGGGCCCTCAGCGTTCACGCAGAGGCCCAAGCACTGCTCCCCCCGCTTGCCTTGTGGTCTCTGAAGTATCTCAGGCAGCATTCCCGATGCCTGCTTTGAAGTGTCAGCAGTTGGCACAGGTTCAGAGGAGGAGGCAGAATCGATTCTTGTTTACTGAACATGTACTACACGCTAGGCACCCTCCAAGGCCTTCACATGCACAGGCTTCCAGAGGGTCCCTGTGCACACCCCCAGGAGGGCTAGGCGCAGTTAGCCCCATTTGAGAGAGGAGGAATTGAAGTTTAGGGAAACAGCTATTCCTAAAACTAGAAGGGGGGGGCCGTACCTTCTGTGGACCCCTGCTTTGAGCCTCCCAACTAGCAGGTGCATTACCTACCGTCAGTCTGGCCTGGCCCCACTCTGCCACCTCTTGGTACTGTGACCTTGGGTGGGTCACTTGACCTCAGCTTCCCCACCTGTGAAATGGGCATCGCTGTAGTTCGGTCTCACAGGATTGTTCTGGGCGTGAAACGAGCTCCTGCAGGCAAAGGGCTTAGCACAGTGCCTGGCACGGCAGCTGCCATTTAGGCAGCTGCCAGGGAGCCACAGTGGTGGGGAGTGTGGTTCTTCCCAGCCTCGGGCCAGAAAGGCCTCTTCACCTCCTCAGCATGCGATTGGAGCTTGTGTTTGGAGTGTTCTGCTAGAGGGCACGGGCCAGGAGGGTGGAGGGAGGACCCCTGACCCACACTCCCGCGGGAGGGTGGGCAGGGACCAGCAGCAATGGACGATTCGTCACCACAGACCCCAACTAACAGCATGTTTGCCATTGGACTCACCCCTACGGGCCCCGAACCAGCCCCCTGCCCACCACATGGCCTCACCAGATTGCTTTTCTTTCTACCCACACTGCTCCCCTGTGCTTAGGGCTGAACTCCAGTCTGGAGGCTCTGAGGGATTTTGGGGGAGCAGGGACTGGCAGGCAAGCCCAGGACAGTATGGGTGGGTGCTGAGGCACTGGGCCTGGAGGCTTGTCACTGGCCCCTCTCTGAGGGGGTAGTGGAGGCCCGGCTGCAGGGCGCTGGCTGGTCAGAAAGGAAAGTGCTGGGTCCCTGTGTGCTCCTCAGGACAGCCCCGTGGTGCTGCTCCTGCTGCCTCGTTTCCCCAGAGACCCAGTCCAAGCTCTTGCAAGAGTGCTCTCTGGGGTTCATGTTTTATAAACGCAGAGTGAACCCCAGGTCTAGCGCCAGTGTGCCCATTCTGTCCTGAGATCATTTATTTCTAGTCACCGAAGCGTTCCCGCCTCGTTCCTTTATTCACTCACTCATTCAGCAACCCTGAACACCGCCAGTGCACTGAGCCCCAAGCTGGATGCGGGAACTCAGCGGTGAAACATGATTCCCTTGCCTTGCGGCAGCCCCGTGCTCACAGAGAGGACTTGAGTTTCGGGTGCCAGTTGTCTCTGCCAAGTTAGGAGTCAGGGACTGACCTCTGTGACCCCCACAAGCTGCAGCCCTGGCTGTGTTTTCCACACTGGCCTGGGGCCCATGTTCATTGGCTGAGGAACCTCTTGGACCTCATCTCTGAGGAGCACCGCCTGGGGCCCTGGGTGTGTGTCCCGCAGCATGGCGCGGGGTGTGCACGTGCGTGTGTGCGCTCACACGAGCACCGGCTGCCGCCTCCCCGCCTGTCTCCAGGTGCCATGTGTGGAGGGGAGAGGCTGGGCGTCGCTGCCTGCAGCACTGGCTCTGAGCCGTTGGCCAAGCCTCTCCATTTTCCTTCCCCATCACTCTGTAGACCCTCCTCACTCTTTCTGTTCCTGTTCTGTTGCCGTTTCAACTCCTCCTCTTGGACCCTTTCTGTGCTTCCTGAAAGGTACCTGGTCTCTCTCTCCCCGTGTGCACCCCCTGCCTCCTCTACACTGTTCACTGCCCCCTAGCAGGACAGGGCAGGACGCTCTCCTGTAGTTCAGGCCCAGGGACTATGTCCACCACTCTCACCCTCCAAAGCCCCAGCACTTTTCTGCCCCACGGATGGTGACTTCTGTCCTCTGGAGCTCCTATTAACATTGCCTCCAAGGCAGGAGAGTGGACAGGCCTGAGTGTGCTCCTGTGCACGGACCACTAGGCTCCTCCGGGACCCGGGCGCCCCTGCTCTGTTGCCCCCAGCTCTCCAGCTCTCGGCTTCCCATCCTTTCACCTTCCCACCGGGAGAGACTCCTCCGCAGTCTTAGGTCCAACGCAGCCGACCCGTCCAGCCTCACCCTCCTCTGTGTGGGGCACTAGAGGGTTTGCGAGCAGCAGTGGGAGGGCTCCCCAACCCTCCTCGGTGCCTCCAGGGTCTGGGCTTTCTGGACCCAGGGGCATTTTGCAGTCAGCAGTGAGGATGCCAACAAGGCCTATTGGGACAGGGCACCATCTCACTGGAGCTGTGCTTCCTCTCCTTCCCCTCTGTGAGGAGTTCCGTGGGCCATGGACCAGCTGCTTTCAAGGGACGTGCCCGTCAGGAGGGAGGGTGGCCAGCCCCCAGGCAGCCCTGACTGTGTGCTCCCCTCCAG
Seq C2 exon
GCTGAAACTGCCGCCAACCGGATCTGTAAGGTGCTGGCTGTCAACCAAGAGAACGAGCACCTGATGGAGGACTACGAGAAGCTGGCCAGCGAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130402:ENST00000252699:8
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=0.183
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF0043516=Spectrin=PU(12.4=35.5)
Main Inclusion Isoform:
NA

Other Inclusion Isoforms:
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