HsaINT0003157 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68890139-68892283:-
Coord C1 exon
chr14:68892053-68892283
Coord A exon
chr14:68890287-68892052
Coord C2 exon
chr14:68890139-68890286
Length
1766 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGC
5' ss Score
9.1
3' ss Seq
TGTACCTCCCATCCCCACAGGAC
3' ss Score
12.22
Exon sequences
Seq C1 exon
CTGTTGGAGTGGATCCGCCGCACAATCCCGTGGCTGGAGAACCGGGTGCCCGAGAACACCATGCATGCCATGCAACAGAAGCTGGAGGACTTCCGGGACTACCGGCGCCTGCACAAGCCGCCCAAGGTGCAGGAGAAGTGCCAGCTGGAGATCAACTTCAACACGCTGCAGACCAAGCTGCGGCTCAGCAACCGGCCTGCCTTCATGCCCTCTGAGGGCAGGATGGTCTCG
Seq A exon
GTGAGCACTGGGGGTGAGCCTGGGCCCCCAGACTGGACTGCCTCCACCTCTGAGCTGCTCCTAGTTGTGGTCAAATTCAGCTTTATGGGGGTGCGGATGGGCGTGTTTGCTTCTACCTACATACACTGCTCCAGAAGTCACTTCCCCCTTCCAGTTACCACCCAGGCTCAATCCCAAACTCGGCCATGTGGGGCAGCCCCCTCTGCCCAGACCATTCTGGGTCAGGCTTGCCCTTCCAGACCCCTGAGCATCTACTCCAGACCTCCCTCTCACAAAAAATCATCCCTATGAACACAATGCTTTTGACACCCTGAACCAAACAGGGCATAATTGAATCGCAGTCAAGTTGATTTCTACTTCCATGGAATCTTAAGTAGTTAAAAAATATTATTATTGAAGTAATAGTTTTGTGGGTTTTTTTGGGTAGTATATTTCAAAGATACAAATAAGCAAAATACAGAACATGGAAATTACTGAAAATCTTACTACCCAGTATCAACTTTAAAAAAAATGATTTTAATCCTTTTGGTTTTTTCGTGTAAATATTTGAGGGAATCCTAAAGTATATGTATTTGAAATTAAACATTTTTTCCCGGTTTCTGTACTCAAGTGTCCCCTGACAGATAACTAAAGCCTGTTTTATATAATAAGCTGCTTTAGGAAAACCCCCAATCTTACATTATATTCTGACCAGCTTTCCATGTCATAAAATACTCTTCTTTTAGGTTATTTTTGTTATTCATCCTTCTTGACCCTGTCCCCACAACTTAGGGAAAAATTTCATAAGCCAGAGAAACACACAGAAGAAAATGTAAGAAATTTGCCATGACGCAGCTTTTTGTCCTTAAGTGAAAAGTAACAGGAGTGTCATGGGCACATGACAGGTCTAGAAGGGGAGGGTGAAAGGCAGACAGCATCGTGGGGAGACGGCAGCCCAGGGGGTCATGGAGGGAGAATACATTGCAAGTGGGTATGCAGTTTGGAAAATTGCAGTCATTTCGGGGCTCCAAGGCTGAATCAGTAGCTTTTAGGTGGCCAGAGCCACTGCTAGCCTAAGGGTGCTCTATGAGAATTAGACAAAGTACCCTTTCTGGGGGACAGATGTAGCTTGGCCTGGGGACATGTGGGGAGGGTGGCTTGCAGGGTGCAGCCCCAGTGACTGTCCAGCTGGGCACTGTTGCACAAACTGGAGGCATGGCCCTGTCTGAAGGGGCGTGTGGGTTTGCACTCAGCATCTGTCCTCCCAGAATTCTGGCCGGCTCACCCAGGCCGGGGTCTCTGTAGGCTCCAGGTTATTGCCCAGAGGCCTGAGTCCATGAATGGATCCAGGACAGTGGGGAGGCTGGGCAGCTCCAGTGCCTGCTTGCCTCATTGCACATTGTTGGTCTGTTTACCTCGGGGGCCCTTTGCCTTAGCACATGTGTGACCTCTGTGATCGGTTAGAGTCCTGCGGGAAACCAGTCCTAGTCAGGGAGAGTCTGGGGCCCTTTCCCCACAGGGCTCTGTTCTCAAAGTCCCATAGCTGGGTGACCAATGTAGATGCAGGTCCCATGCCTTGCCCAGGAGGCCTGGCTCCTGGGAGCCCAGAAAATACCAGTGGGAGATGGGAGGTATGGTGGGGCAGCCTGGCTAGGGTGGATATGGGGCAGAGATAGGGAAGAGGCTCTTCCTGGAAGGCATGGGGCACCTTCAGGGGTCTAGGGGGCTAGGGGACCTGAAGCCTAGGCCCAAGCCAGACCCTGACCCTGTACCTCCCATCCCCACAG
Seq C2 exon
GACATCAACAATGCCTGGGGCTGCCTGGAGCAGGTGGAGAAGGGCTATGAGGAGTGGTTGCTGAATGAGATCCGGAGGCTGGAGCGACTGGACCACCTGGCAGAGAAGTTCCGGCAGAAGGCCTCCATCCACGAGGCCTGGACTGACG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.064 A=NA C2=0.003
Domain overlap (PFAM):
C1:
PF0043516=Spectrin=FE(68.5=100)
A:
NA
C2:
PF0043516=Spectrin=PD(18.9=42.0),PF0043516=Spectrin=PU(17.0=36.0)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAATCCCGTGGCTGGAGAAC
R:
CTCGTGGATGGAGGCCTTCT
Band lengths:
344-2110
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