HsaINT0003168 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68874143-68877240:-
Coord C1 exon
chr14:68877082-68877240
Coord A exon
chr14:68875018-68877081
Coord C2 exon
chr14:68874143-68875017
Length
2064 bp
Sequences
Splice sites
5' ss Seq
AAGGTGGGT
5' ss Score
8.23
3' ss Seq
TGACCACTCTCTCCTCGCAGAAC
3' ss Score
12.1
Exon sequences
Seq C1 exon
GGAGAAGCAGAATTTGCCCGCATCATGAGCATTGTGGACCCCAACCGCCTGGGGGTAGTGACATTCCAGGCCTTCATTGACTTCATGTCCCGCGAGACAGCCGACACAGATACAGCAGACCAAGTCATGGCTTCCTTCAAGATCCTGGCTGGGGACAAG
Seq A exon
GTGGGTGTCCTATGGGTGGGCACTGTGCTGGGGTGGCAGGCACTGGCTGGACTGTGATCTAAAGGGGTGAGAGCTGGAACATGAACTCCTCAACCGCCCCTTCTTCCAGGGTCCTTTGGCCTCTCCTTGTTTGCCACTTCTACTCATTTCTGTAATGTCTTGGGCTCAGCTAAGGTGTCAGGACACAGGATTAGTATAAGTGACCCTTCCAGGATCACTGCATGCCAGTGAGGGACTCCATAGCTGGGATGAAATGACGGGTGGCAGATGAGAATAGAGTGGTGTGGATGTGTGATCGGACTCTTGGAGTCCATCTGACAATCCCTGGGACTTCACCCTTGGTCTCATCCCGCGCATCGGCACGGACTATAATGGGAGCAGGAAGAGGGACTGTGGGACCCAGGAAGGAAGCATGTCTCTCGTGTTTTCTACCCTGAGCAGTGATCTACTCTGGGTTTCCCAGTCTCCCAAGTACCCTGCAACACTCCACCTGGCAGTGGATGGATGCAGGGGGTTGTCTCCATGGATGCCAGAGGCTCAGTCCAAGTCTCCACTGTTCTGAGATGGTCATTGGTAGACCTGGATGTTACCCAGAACCACAGCCATCTCCAGCCCAGGGACCTGAGGGGATCTGTAGAAGCCACAGATCCCTCGAATATTAGAGAAAAGACTCACAGAGCAGCCAGAAGAAATGGTGGGGGTGGGGTGGGGGCCTAGGGTCTGTGTTCTGTTCAGTAAAAGTCACAGTAAATCCTTATGCCATCCTTCCTTCAAAACTGAAAAGATTCAGGCCAGGCACAGTGGCTCACGCCTGTAATTCCAGTACTTTGGGAGGCTGAGGTGGATGGATCAGGTCAGGAGTTCAAGACCAGTCTGGCCAACATGGGAAAACCTTGTCTCTACTAAAAATACAAAAAATTAACCGGGCGTGGTGGCGTGCACCTGTAATTCCAGCTACTTGGGAGGCTGAGGCCTGAAAATCGCTTGAACCTGAGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTTAAAAAAAACCTTAAAGAATCAGTTAGCGAAGCAAAAGCCAATAGGGAGGGAATATAATTTCTGGAATGTCTGTCTATAAGGGAATAAAGGCTGAACCTACAAAGAAGTCCCTAAAGTTCTGATTTAAATACAAGAACAACGTTATTTGCATCATAGCACTTTGGAGCTGGAAGGATCCTCAAACCATTTAGTTGTAGTGGCTAATTTTGTAGAGGAGGAAAACTAGGGCCCAGCTAGGGGCCTGGTCTCCCAACTTTTGGCTTGACAGTGGCAGCTCTACCCTCCCTCAAACTGGTTCCCAGGGCACTCTGGCAGAGGTAGGGCATGGTGCAGGGCGACTACCTTGTGGGTCAGAGCCCCCAAATGAGCTCTCCTGGATCTTGAAGCTCCTAAAAGAAGCAGCTTCCAAGTAGACCTATCATGAGCAAACCTGGGAGAAGGTAGATACCCAGGCTGGAGCTGCTTGCATGGGGCAAGGCCCGCATTTCTGCAAAGCTGCTTAACATAGCCTGGCCATATTTGGGAAGCAGTGATGCCCAAACATGGATGGTGTTCTTAATCTGCTGGAGGGCTCATTAAAATTAGACTGTCTGTCCGAGGCGTCCAGAGAGCTCAGTTGAGTGCGTGTGGGGTCTCCCCAGGAACCTATACGCTCCACCAGAGTATCTGCTGATACTGCTCCAGCACGCAATTATTGCAGACTAGTGTGATTCAGAAGATGATTATAGGTGTAATTGGCACATGGAATTAGATTGGAAAGTGGCTTACAAAGTAGGTACTGAAGTGGAAAACCTGAGAGAATTTTAAAAATACATGTTGTGTATGCGGTATGTACATGTGTGGATATTTACGTCCGTACATCCTGTAGTTACAGGAGGGAGGCAAAATGCAAACGGCACATGCTGCCTTCACGCCGCCAGGCTTTGCGGCTGTGTCGGGCCGCGCCGCTTTACGGCTGCTGGACTTTGCGGCCTTCCTGACCACTCTCTCCTCGCAG
Seq C2 exon
AACTACATTACCATGGACGAGCTGCGCCGCGAGCTGCCACCCGACCAGGCTGAGTACTGCATCGCGCGGATGGCCCCCTACACCGGCCCCGACTCCGTGCCAGGTGCTCTGGACTACATGTCCTTCTCCACGGCGCTGTACGGCGAGAGTGACCTCTAATCCACCCCGCCCGGCCGCCCTCGTCTTGTGCGCCGTGCCCTGCCTTGCACCTCCGCCGTCGCCCATCTCCTGCCTGGGTTCGGTTTCAGCTCCCAGCCTCCACCCGGGTGAGCTGGGGCCCACGTGGCATCGATCCTCCCTGCCCGCGAAGTGACAGTTTACAAAATTATTTTCTGCAAAAAAGAAAAAAAAGTTACGTTAAAAACCAAAAAACTACATATTTTATTATAGAAAAAGTATTTTTTCTCCACCAGACAAATGGAAAAAAAGAGGAAAGATTAACTATTTGCACCGAAATGTCTTGTTTTGTTGCGACATAGGAAAATAACCAAGCACAAAGTTATATTCCATCCTTTTTACTGATTTTTTTTTCTTCTATCTGTTCCATCTGCTGTATTCATTTCTCCAATCTCATGTCCATTTTGGTGTGGGAGTCGGGGTAGGGGGTACTCTTGTCAAAAGGCACATTGGTGCATGTGTGTTTGCTAGCTCACTTGTCCATGAAAATATTTTATGATATTAAAGAAAATCTTTTGAAATGGCTGTTTTTTAAGGAAGAGAATTTATGTGGCTTCTCATTTTTAAATCCCCTCAGAGGTGTGACTAGTCTCTTTATCAGCACACACTTAAAAAATTTTTAATATTGTCTATTAAAAATAGGACAAACTTGGAGAGTATGGACAACTTTGATATTGCTTGGCACAGATGGTATTAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (disopred):
C1=0.078 A=NA C2=0.225
Domain overlap (PFAM):
C1:
PF134991=EF-hand_7=PD(33.3=52.8),PF087265=EFhand_Ca_insen=PU(26.9=34.0)
A:
NA
C2:
PF087265=EFhand_Ca_insen=PD(70.1=88.7)
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