HsaINT0003174 @ hg38
Intron Retention
Gene
ENSG00000072110 | ACTN1
Description
actinin alpha 1 [Source:HGNC Symbol;Acc:HGNC:163]
Coordinates
chr14:68893655-68902562:-
Coord C1 exon
chr14:68902477-68902562
Coord A exon
chr14:68893748-68902476
Coord C2 exon
chr14:68893655-68893747
Length
8729 bp
Sequences
Splice sites
5' ss Seq
AAGGTACCC
5' ss Score
9.16
3' ss Seq
TCTCTCTGTCTTGTTGCCAGGCG
3' ss Score
8.28
Exon sequences
Seq C1 exon
ACATCGTTGGAACTGCCCGACCGGATGAGAAAGCCATCATGACTTACGTGTCTAGCTTCTACCACGCCTTCTCTGGAGCCCAGAAG
Seq A exon
GTACCCGGGGCCCCCTGCTCCTTCCATGCCCAGCACACCTCCTGCTGGACCCCAAACCATGTCCTCCTGCCCGCCTCCACCTCTCCTGGTGACAGGTATCTGGATGGTCTGGTCTCTCGGACAGAGGCAGTCCCTAGTTCTGAAGTGGCGTGTTGTTCTTACCTGGCTCCCGTCCCACCCCACACCTCTCTCTCTCATCTTCTACTGTTAACAAGAAAATTGGGCAGCAGCTCACTTTCTGGGACCCAGATGACTGGCTTAAGCAGGAAGGGCTGTGTGCATGAGGCAGCCGGGGTGGTTCTGGAAGGCTACTGAAAGGTGAACAGGAGCAGCCCTTCCATGCCCACGTCTGTTGAAGCCACTGGCTCGATAGAGCAGCTGGAGCTCCCTTAGAAGGGCAATGCTGGGAGACACCTCCAGTCTTCACTTACCCACTTGGCAAAGGCATCATAAAGCCCCACCTTTGTCCTGCTCATGGGCATGACTTAGCAGATCTGTCCTCAGCCCCTTGGGCTCTAGTGCCTTCTCCTGTATCCTGCCTGGGACTCCCATGCGGCCATGCTGCACTCTGTGTTCTCAGACATAAGCAGAACCTCTGGGAGGAAGGGAGAGGCGGTGGGCAGCTGTGAGCCCCGTCAAGTGTCCTGGCCCAGTTTTGCTCCGGGAGGCCTGAGATTAAAGTTCAGTCGTGCAGGTTCTGCACCACACAGGGGTTCCACGACTAAAGGGCACTGTCCATGCTGTGGACATTGAAGATTTGAACATTTTCATCACCAGGCTTAGGCAGCATACACCCCTCCCCCAGACCTCCCTGGTAGGCAGGACTCCAGAAGAAGCACAACATCACCATGACCACAGAATCTTCACGTCTCATGCAGATCTCCTGCCCTCCACATGGCATCTGAGTGACCGTTTTAAAATGCATGATGAGGCCGGGCTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGGTGTGATAGCACCCTCCTGTAATCCCAGCTATTCAGGAGGCTGAGACCAGAGAATCGCTTGAACCCGAGAGGTGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCTGGGTGACAGAGTCAGACTCTGTCTCAAAAAAAAAAAAAAAACAAAACAAAAACAAAACAAAACAAAAAAAAAACAAAAAAAAACCATAAAACAAAAAAAAAATGCATGATGGGAGCCCCTGCCCTCTCCCACCTCTCCTATGCCGTCCCTGCCTCAGACTCTGCTCACCTCCCACCCACTCCCTCCCCTGCTGTTTCATTTTTTCTCTTTCTGCTCATTCCCTCCTTTTCTGTCTGTCCGTCTGTCTTGTGTCCTCTTTCTGTCCACCATGGCTGTTTGGGTTTATTCTGTGCTGCTGCCGCTGCCTACTTTCTCCTCTCAACCTCTTCTCCTTCTCTGTGCAGATGTGTAGGCACGCTAAGGCCGGATGGGAAGGCCGTGTGACCTAATGTTTCATGTCACGGCCACGCCTTCTCGGGTGTGCAGAAGGTGAGCTCTCCCTCGGCCTCCTCCACTCTCCCCTCTTGCCCATCTCTTCCGTCCTCCCTGGACACTCCAGCAGCAGGCCCTGGGATGGAAGGAGGGACTAGAGAAGCCCCTCCTTCTCCTGCAGGGGAACAGGACTCTGAACTTTGGCCAGGACACTTGAAGATGCCAGAGAACCCCAGCCTCTGAATGACCTCCTGTGTCTCTGTCCCTATGCCCTGGGCATAGCGGATACCACAAGCGAGAGAGAAGCTTGTGGTCTCAGCTTCTTCCCTGCACCCCGCATCAAGAGCCCTTATCCCAGGCAGCACAGCTCTTGGCAGTGCTTTCTATTTCCTTAAACATCCAGGACCTCTTCCCTCTCTCTCTCTCCCTCCTTCCTGCTTGAGCAAGGCCACCCTCGCAAATTTAGCCAGCAGCCAGAGCAGGGAGAACTCTTCCTGCCTTCTCCAGGGAGTCCAGACCAGAGCCCTGCCTGATGCTTCTCAACCAGGCTGCCATGGACAGTTGTGCAGGTTGCAGACTACTCACAAGTGCCACGTGTGTGCAGTGGACAATGGAGATTTGAATATTGATTACTAAAGTGATCCTGCAGATGGCAGTGAAAATGTCTTCTAACAAAATCAGTAGGACATTTTCCCAGTAGAAGTGCCCTTGGGGAAGAGGTAAAAAATGATCCAGAGACACCATATGGGCTGGCAGCAGCCCTGTTCCCTGCCTGGTTGGGCACCCAAGACCCTCCGGAACTTCCTTCCAGGGCTCATTGGTGCGGGCCAGAGACAGGAGACCAGCCCCGTCTGGAGGCTGTTTCTCATAGGTATCCCCCGAGCCTGCCCAGCCCCTCTCAGCCCCTCCTCTGGCCTTCCTTCTGCTTCCTCTTTGTCCTTCCCACATCTCCTGCTGCTGTTCCTGTGCCCCTCCCCTGGCCCCTCGCAGCCAGGGTGTGAACAGCTTCTCTCCCTTGCCTTGGTTGGCCTCCTGGCCCAATAGCCACGGGTGTGCACCTGCCCGTGTCCGTGGTCAGGCTGAGCTCTCTGCTATGGTCTTTTCCCCTCTTCCCAAAGCTCCTTCCTTCTCTTCCAGTCTCTCCCCTTCTCCTTCAGGGGTCTGTCCCGGGCTTCATGCCCATTGGTGCTGGCCTTCCCTGTCTCTGAAGCCTTCTCTGTGTCCTGGCTGGTGACAAAGCTTGGAAGGGAATGTGAGATGCGTGTGGGTGTAGTGGGTATGAAGTGGGTGTGTGGTATGTATGGGTATGGGGGGTTCTGAGGAGTGTGTGGTTTGAGGTATGTATGGTGTGTGGGGGATGTGATGGGTGAGATATGGGGTGTGTGTGAGGTGTGTGTGTATGGTATGGATGTGGTGGGTGTGAGGTGTGTATGGGGAGTGTGGTGTGTGTATGTGGAGTGTGGTGTGTAAGGTGTGTGTCTGGGGGGTGTGGGGAATGTGGTGTGGAAGGGTGTAGTGTGTGAGGTGTGTGTATGAGGTGTATGGGGTGTGGGGACTGGTGTGTGTGGTGTGTAGGAGGTGTGAGGGGTGAGGTGCGCTGTGGGTGTGGTGTGCTGTGGGTGTGAGGTGTGTTTGTGGTGTGAGGTGTGGCATGTGGGTGTGTGTGTGAAGGGGAGTGCTGTGTGTGTGGGGTGTGGTGTGTGGTGTGGAGGGGTATAGTGTGCTGTGGGTGTGAGGTGTAGGGTGTGAGGTGTGTGTGTGGTGTGAGGTGTAGGGTGAGGTGTGGGTGTGGTGTGGTTGTGGTGTGGAGGGGTATGGTGTGCTGTGGGTGTGAGGTGTGTGTGTGGTGTGTGAGGTGTGTGTGGTGTGAGGTGTGGCATGTGTGTGTGTGTGGTGTGCTGTGGGTGTGAGGTGTAGGGTGTGTGTGGTGTGAGGTGTGGCGTGTGTGGTGTGTGTGTGTGGAGTGAAGGGGAGTGCTGTGGGTGTGGCATGTGTGAGGGGTGTGTGGGGTGTGTGGAGTGTGTGGGATGTGGATGGCGTGTGGGTGACAGCCTGCTCCCCCTCCCAAATCTCATGCCACCTCCCCATGCCCCCTTCCCTTTCACTCATCCCTGTTGCAACCATTTCACGCTGCTTTTGTCCACACCTGAGGGCAAGGTCACAGCTGGGTTGGTGGTAGTGGTGGTCGTCCTCTCATGTCCTGGTCAGGGGTCTGACCCAGAGTTGCCCCCACCACTTCTAAGGTGACTGCTTTGAGCTGAGCAGGCAGGGGAGGGGAACCCTACCTCGCCTTGTGTGGTGGGGCTGATGGAGGAGAAGGACTCTTGCTGACTCACACACTCCTGTCTTGTCTGTCTCCGGGCTGGCACCGATGAGGAAAGTCTTCCAAAACCCGTGCCCAGTGCCCTCCATCCTCTCCACTGTCTTTCTGTCGCCCAACCTTGTATGGTGGAATGAAAAGGCAACAGCGCCTAATGTGTGTGTGCACGTGTGGTGCACAGCTCGTGTGCCTGTACAGGCACGTGCTGTATAATAAGTCTGTGTACTGATTTCCCTCATTAGATGAGGACCAACTGCTGTTTGACAGGTGGGTTTTGGTTCTAATTCTTTCTCTGCTTCCCTCTCCCCTCCTCTTCCCTTACAGGGACTTAGAATGGATGGAGAGCATTAAGATTTTGTTTATGTAGCTTGTGTTTTAGAGTTCATGGTCTGCTGTTTCTGAGAAAGAACACTTGAAGGCTTGGACTCGATCTGAGAGAAATTCATGAGCCATCTGGGAAAACCTAAAAAAAGGAGCCGGCAGTGGCTGCGGTCTGACCAGTGCCCTGCTCTGCCCCAGATCTGAGCAGGGCAGGTGCAGTCACAAGACTGCCGGCCACCAAGGTTTTCTTGAGCAGCAGAAACTTGAACATGAGGTCTGTGGGGGGAAGGCTTAGCAAGGCCTTGGGAAGGGGCAGACAGTGTTGTGGAGGGAGGTGACCACAGCTTGTGCAAGAAGCTTCGGGGTATGCAGGCGGAGCCTGCAGTAGGAGAGGAAGCTGGCAAGGTGTGGGCTGCCTGAGGAAAGGGGCCAGTTTCCCTCTGCCTGGTCACCCACCCTGGCCCACTCACCGTGAGGAAGCTCGGATGCCTGGTCTGAGATCTCTGCTGATCTGGGGCTCTCTTAGTAGGAACCCTGGGCTTGGTGGCTGACTCCGGACAGAGGGAAAGACTGGGCAGTGGACAGCTGTGGGAAGAAGAAAAAAGCAGGTCCAGCTAGATTTGGGAACATTTTGGCTACAGATGACATAGATGAGATCCTCGTGGCATTCATGTGAATCTGTGGGTTGTGGGTGGTGGAGCCACAGCACATCATCTGGCCACGTTTGGGTGTTTTGATGTCACCTTGAGGACAGTTCCTCTCTAGACTGTGCCTGTATCAGGCAATTGGATGCTGATTATTAGGGTAGCAGTTTGGCTTGGGATAGCTAAGTACTCCAGGGATAATAATAGTTCATATCTTTTAAAAAATAACTCCAGGGATAATAATAGTTCATATCTTTTAAAAAATAACTCTTGAATATACAACAAAGTGTATATGTTAAGTTGTATAATAGCGCAGCTTAAAGTAGGTCATAAAAAAACATGAAAATTCAGGTTGGGCGCAGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGTTGAGGCTGGTGGATCACCTGAGGTCAGGAATTTGAGACCAGCTTGGCCAACACCGTGAAATCCCATCTCTACTGAAAATACAGAAATTAGCCAGACATAGTGGCGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGGATGGCTTGAACCTTGGAGGCAGAGGTTGCAGTGAGCCGAGATTGTGCCATCGCACTCCAGCCTGGGTGACAGAGCAAGATTCTGTCTCAAAAAACAAAAAAACAAACAAAACAACCATGAAAATACAAACTAAGGGAAAGGAAACACAGATTTCTAGTAGTCTTCTCCTTTGGCACTTGGAAGCAACATTTTGCTCATTTCCAGAGAATATTTTCTGAAGCCATCAATTATCTGTTACATCTGTTACATTATCTCATGAAGCCATCAATTATCTGTGCATCTGTTACATTATCTCATGTCAGGGCACCTGGTTCTTCTTGCTGGGGCCAGAGCAGCCCATCTCCTCTTCAGGAATAGCCTGAAGCCAGGTCTCTCCCGGGGTTCTCTTCTGAAGTTGCTTCTGAAGCTGCTTCAGTTCCTGAGGTTCTCAGGGAAGGAATCTTTCCTCCCCTAGAACACATCTCTCCTTTGAACTTCTGGACTAAAGGGTTGTCTTTGAGATTCTTTATGTACTTGGTGGTTCTGGGTGCCTCTCTCCTAGATCCCTCAGAGTTCATGGGGTTCTTGTAGCTGTGAGAGGAAAAAGCTAGAAAACCAGGAGTTTGCGGTGATGGGGAAGGCCTGTCACCCCCAGCGGCCTTTCCTTCTGCTCCCGGGATCGTGTCCCGTGGGCCTAAGCCTGGCCTTCCCAGCTGACCTCATCTTACTTCTCAGGCTGAGGCTGGTGGGTGATGAAGCCGCCTTCATCAAGGGACCACGTGGAAGCAGGTCCAACTCACCACCCAGTGGGCTTCTCTGTGGTGCATCCTGCCTGTAGGGGGAGTCAGGCTGCGAGAGAAAGGGAGAGGATGAGGTTCTGAGGATTCTGCCGTAGTTTTTTTAGAAAAATCAAATCTGGACTTCAGGAACCTGCTTCCTGAAGGTAATGTAGGAGCTGGGCTGTCTCTCAAGGGAACCCGGTGGAGTCTGCAGCCTGGCCTGCCATACAGAAAGCACTCTTGTGTCTCCCGTGGTACTTGTGTGTTATTTCTGAAGGCTGGTTCACTGGTTATAATGGATGGTATTCTCAGTCAGTCTCCTTCTGGAGAGGCCATCCTGGGAGCAGGTGGCTGAGACTCTGGCTTGGGAATGCGGTTGGATCTTTGTGGAAAGTCCCCAGGAGGCCCACCCGGAATCTCCCCCAGACTTCATCCAGAAGGGAGCCCTTTTGACCCTGACTCTGGAGTAGTCAGCAGGCTCTTGGGGATGGGCGAGGCTCTTGAGGTCCCATAGGACACATGTAAAATCCCACAAATGCAGACCTTAGTCCACCAGTTTGATAAATTGGCACACATCAGATTTTATGACCATCGAGCCGATGGATCAGGAGAGTAACAAGGTGAAGGTGGCTTTATCCATGAAAATCACAGCCGCAGTTGCTTCGTGCCAGTTATGAGTAGCTGCCAAGGGGTTTCAGCTGTTTGAGTGGCACATCTCTGGCATAGTCTTCCGGGGTGGCACATCCTCACAAAAACATCAGCCTGGAGGAGGACACGCGGGTCTCTCTGCAGCCCCCTGCCCCAGCCTTGAAGGGAAGTAGTCTGGGGCTTCCGGCAAGCTGCTCCCCAGTCAGTCCCATGAGGCTGCTGGCCTGGTTCCCATGGCCCCACTTGCTTTCTGGGGCTCCAGGTCTCCTAGACAGGCTCCAGGAAAAGCATTTCCCTCTTCGTTGCTTCTTGGGATTCCCCGTGGGTGCTTGTTGGTTCTCGAGAGAGATGGCGATCAGTCAGGAGTTGTGGGTGAGAAGCAGTCATGGCATCTCCAGGACAGGGTTGAGTTGGGGTCAGGGGGTGAGGGCCTAAGGATGTGACTCCCTGTCTCAGTTTCTTGAGGCCCAGGACTCAAAGTCCCCACCTCAGGGGACTCTTAGACCACCCTCTGGCCATTCCCACCTTCTCCTTATTGGTTCTCCCAACCCATTCTGACACCTTGCTCTGCAGGTCATGCCTCCCTTGACCTCCTTGACTGTGTTTCTGACAAGGCCTTTAGGATGATCTCATTCTGCCCCTTACCCCCTGCCCCACACACCCCAGCATAGTCATCCATCCACAAAGCACATGATTTGGTGGGCGGATTCGAGAAGTTCTTCAAGGAAAAAACATTTCCGTCTTCCATCTTAGTCATTCCTTCCAATTCTAAGCACGTTCATTCTCAGGAAGCTCTTCCTTACAACCAGCCTCAGTTCATCTTGCTGCAGTTGAAACCTGTTTTGTCTTGTTCATCAACCAGTTGTGAGGTCCTGTCTTTCAACCTGTTAATCCAGGGATCATTTTTCATCTGCAGGGCACCCTTCTCCAGGGTCTCAGGATGCATGTCTGTCTTCTCACAGATATCATCTTCTCCCACCCCCAGGCTGTCTTCCTTTCTACCCTCTGGCCCCCAAAAGGCTTTGAGTTCACTTCCCCCTTGGTGTAGGGTTGGAATGTATGCAAGAACACAGCTGGATTTTAAAACCACCTATTTGAAGTGGACTCAGGAATGCTGGGTCCCTGCTGGTGTTAGGGGTACAGTAGCCCCCACAGCTGCAGAAGGCGCTCTCCCACTAAGGTTTCTTAGTCTTTGCCTGGGATTGCCATTCAGTCCCCTTTCCTTCCCTTTGCTGCTGAGGCCATCTTGGGTCCCTGCTAGCCCAGCACGCAGCGCATGATGTGTGCTTAGCTGTCTGGAAGAGGCCTGTGCTGGGTTTGCTGGGCATTGAGCCCATACTTGGTTGATCCGGAAGTCTGGACTTGGGTGCAGTAGAATGTCCGTCAGTTTTCTCTAAAGTGCTTCAGGCTTTGGGCCAAGAGCCTTGGGAGATTCTGCAGGGATCCCAAGAGGTCCCATGATTTCTCAGTCAGCACTTTATCCCAGGACTCCCGGATTTGAATTCCCACATCTCCAAGACCCTGGAAAATCCAGCCAGAGGTCCTAAGCCTTGCAGTTCCAGTGCCTCCACTTGGAATTCCAGGATGGGCATGAATTTTCTCACCTCTCCACCTGACCTGAGTATTTTGATTATATCAGTCATTGGATTAGTTTCTTCCCAACCTGCAGGTTGGGCCTTAAACTCAGGCTGTTCTCCAGGGGCCCAGTTCAGCCACCAAGACCTCTGTCCAGGCTCACTTGACCCATGGGACCTGGCCATGGGCTGGCAAGGAGGATGGTAAGGAGAGAGGAGGAATGTGACCTCACAGCCTTCTTAACTCCCTTCCAACCACAGGGAGCTGCAGGGATGGGAGGGGCTTTGTCAGCACAGGTGTGTACCAGGTGCCCCTGCTGCTGGGGCTGGCTGGTCGTGACTCTCTCTGTCTTGTTGCCAG
Seq C2 exon
GCGGAGACAGCAGCCAATCGCATCTGCAAGGTGTTGGCCGTCAACCAGGAGAACGAGCAGCTTATGGAAGACTACGAGAAGCTGGCCAGTGAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000072110:ENST00000193403:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.004 A=NA C2=0.132
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(23.1=82.8)
A:
NA
C2:
PF0043516=Spectrin=PU(9.9=35.5)
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:
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