HsaINT0100440 @ hg38
Intron Retention
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152456267-152459345:+
Coord C1 exon
chr3:152456267-152456361
Coord A exon
chr3:152456362-152459270
Coord C2 exon
chr3:152459271-152459345
Length
2909 bp
Sequences
Splice sites
5' ss Seq
CAGGTTTGC
5' ss Score
4.86
3' ss Seq
AATAATTTTTTATTTGCTAGATA
3' ss Score
6.07
Exon sequences
Seq C1 exon
TTCCCATGGTGCACGGTGCTACGCCAGCCACTGTGTCCGCAGCAACAACATCTGCCACAAGTGTTCCCTTCGCTGCAACAGCCACAGCCAACCAG
Seq A exon
GTTTGCTAATTTACAGCTTTGTTTCTTAAAAAACAACTCTAATAGGGCTCAATCCAACAGCCCTTACGCACGTGGATTTCCCATTGAGGTCAGTGGGAATCGTGTGTACGTGAGGGCTGTAGAGGGTGCTTTAATAAGCATGGGGTTTCAAAGATACCTCTTGTTGGCCTACACATTCTCTCTATGATGAGCAGCAGAATGCTTTTATGCCATTTATAAGTGCTCCAAAGTCGTCGCAGCTCCATTTCTGAAGCTACTAAAATGATATTTACACAAGCAATTCTCAATTGGTTTCAACCAATCGTGCAGGTATTTTGACCAATCAAAAATAGAGGCCATTTTAAGGTTTTTATTTAAAATATTTGGTATATACAGTTTCTTAGTTCTTGCCTAAATGATTAATAGAAAGTAAAATACTTAAATGTATTACGTATGCCACAAATGACCACTCTTGTAAATAAGTTTGTTATAAATTCATTATAATCTGAATCATTTAATGAGCAGATTCAAAATAAATTGTTTGCATGTAGCATTTCTAAGCTTTTATTCTCAATGCTTTCAGTGAAAGAAAAATCCTAAGCGCTCTTATTTTTATAATTACCCTGCATAAATGTTGGAGATTTATGAAGGAAAAGAAAAGAAATTAAGTATGGCAAATTGACAGTCATTCTGTATTCCATGCAAATTTATTGCAGGATACTTTTAAGTGAAAGGGATTTGTTTCATAAATTTAAATTTTATGATATACAATAATAACTATTTAAAAATAAATGATGATTTAAAATATTTAAAATTTAAAAATTGACATTTATTCACCCAGCATTTTCTGATTCTACTTAAAAATATTTTCTAGAAAATACTGGTTGATTTCAAGTTTCATTTATGTAGATTTGGGCTTCAATAGAGTTGATAGTGTATGAAAAACATAGAGCCAAGCCACATTTCAGATAATCCACAGAGGAAGATTAAAGGTAGCCAAATGAATCTCAAAAGAATGAGTGTCAGATGAAAATGAACATGTTCCCCCTTGGGAAGGGAAGACCAATTAAGACATAGATTTGTTGTTATTACTGTGAGGAGTAGCCACCCTTGTTCTATAATACATCACGTACTGTTGATGAAGAACATTCAGCTATTAGTACAGCCATTAAAAACTTTCAAAATCAGAACACAAAAATGAATTTAACGTTTCAGTCAAGCTTTAAACATTTCTTGGCAAAGAATCATTAATTTTTCAGAAGCTTGTCAAAATAGCCCTGGGTTTACATGAACACGTCAGACTCATTTACAAGAATGCTAGATTGTGCATATGTGGCATGTTAATAAGTAACCTTTGGTAGAACTATTATGATGGATTCAATACAATCCATCTATGGTGCAAATCAATGATAAAGAACTCTCATGCGTCTACCATGTATGACTGTAGAATTGCTGGTGTAAGCAGAACTATAGCAGAGCAAATTTCAACATGCCCTTGGCCACCTGGGTTGTAGGGGACACTTTACTTTTTGCATTGTGCTGTGACCATTTCATGCATAATCTTGGATCTTCATACTATTTGACAACCAAAAGAAAGAAAAGGGAATGGATATATATATACACACATATATTATATCTACATATACATACATATGTATATGCCTACAGTACATTAGCAATGCTGGAAATAGCTGATGCCACAAAATGCAGCCTGCATGCATGCAGAAGTTTATAGCTGGCCCTTCATCTGCATCGATTGGTGTTGAAGGTCCTTGGTATGTTTCGACAGCCCCATCCTTGATGCTTCTACACTGTTGGGTGCAACATCCTGTCCTGCAGCAGCAGGAAAAATGGTATGAGAAGCTTCATTATGCTTGGAGCACATTTTCGTGCCATTTGCCAATGCTGTAAAATTGTGTAAAAATGTCAGCTGAGAACTGGAAATAAAACAGGGACATATTAATATACACGCCAGACTGTGGATTGTAGTATGTTGAATTAGCCTAAGATGTCTAAATTGAAAGAACAGCAACAAAATGCCTTTGTGTATCTGATTTCATTATTCTCCCAACAACATTGCTGAAATGGGATTAGTATCATTTTATAGAAGAGACTTAAGCATAGAGTAATGAGTTGCTTTGCTCAGGGTCACACAGCCAGTAAATGGATCTCTGGGGCTAGCACCCGTGTCATCAGTCCTCTGACAGTCTCAATCCATTGTGCTGCCTCTCTCAGGTTAGCAGGCATTAATTTCAGGTTGAAGAATCAAGCTACAAATCCGAAGTTCTTAACTTTGGGAACTATTGAAATAAGTCAACTCTATATTGGTTTCTTATTGTATTTTCTCTCAAGTTCTCTAATTCTCTTGCCCATTTAAAATACAATAAAAGGTGTCATCAGGATTCAGAAATATGTTCTGAAGTAAACTTAGGCTCTTACCTAGTTCTTTTGAATTACTGCTTTATAATTCTTACCTGGTATTTTTAATTTGGAAAAAAAAAGTTAGACACCCTAATTTGAACGAAAATGTTAGAAATTTGGTTGCACAAAAATAGGCAAGACATTTCCTTATCTGATTTCTGGATGATTACTAAGTAACTGAAACCACGGGGGTGCGTGTGTGTGTGTGTGTGTAGGCCAACAAAAAGGGCTTCTTTCAATTACTGCTCTGCATGAATTTTTGATAGTTTTACTTATTTCCTAAAAGCTGGTAACATTTATAGAATAGTATTTAACATGAAGATTTTAAAGTTAGTTGCTACTTTGGCATTTAAGTTTACATTAACTTACTGTTATGTTGACCAGATAAGGACTATCACCTCACAGCTGAATTTCACTTTTCTTTAAAAATTTAATATTAAAATGTTTTCATCTCTTAATTGTTGGCTTGCTTGCATGGATCATTCATTAAATAATTTTTTATTTGCTAG
Seq C2 exon
ATACCCATAATATCTGCCGAACATCTGACTAGCCACAAGTATGTTACCCAGATGTAGAATTTTCATCACTAAACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601:ENST00000355460:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.627 A=NA C2=0.184
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
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