HsaINT0100437 @ hg38
Intron Retention
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152445282-152447773:+
Coord C1 exon
chr3:152445282-152445539
Coord A exon
chr3:152445540-152447619
Coord C2 exon
chr3:152447620-152447773
Length
2080 bp
Sequences
Splice sites
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
3' ss Seq
TATACTCATTCACTAAACAGGGA
3' ss Score
7.35
Exon sequences
Seq C1 exon
GTATGTCGAGAGTACCAACGTGGCAATTGCAACCGAGGAGAAAATGATTGTCGGTTTGCTCATCCTGCTGACAGCACAATGATTGACACCAATGACAACACAGTCACTGTGTGTATGGATTACATCAAAGGGAGATGCTCTCGGGAAAAGTGCAAATACTTTCATCCCCCTGCACATTTGCAAGCCAAGATCAAGGCTGCCCAATACCAGGTCAACCAGGCTGCAGCTGCACAGGCTGCAGCCACCGCAGCTGCCATG
Seq A exon
GTGAGTAGAGATATCAGCTCTCTCCTTGTTAGCAGTCAGAAAAGCAAAGTGAGCAACTATATCTGACTACAAGCTATTCATTTAGTAACCTTTTTAAAAAAATTGCTGAAGATATGTTTGTTCAGGTATCCCAGACAATATATAAAGAAGTTACTTTCACAGAAGTGAGGGTAACTCCTCAAATGGTTCAGATTGCTCCTACTCTTGGCCTAACTCTTAATCTGTCTTATTGTGGATGTAGGGTTTCTGAAATCTCTGCTTTGTAAAGAACCACCTGTCTCCTTTTCAACTTAACGATATTGCCATTTTCAGTCTTCTTATTTCTGTGTGCCATCTAATCAGCCATTGTTTTCCTTTGGTGTGTTCTTTTGCACATCAAGGCTCTTCTTTACATATATCTTGCTTTTAACAATAACATGATCTGGAACTATTTAGGAGAATTGTTCAACAAAATTGTTCTTAGAATTAGCTACAGGATTTTGAGTAGTATACTATCTAGATTGTCTGAAATAATATTGTGGCATAAACATAATAGTAACACTAGAGAAGCTTGACTATGCCATTATATAGACAGGAGAGAGACAGCAGTACTCAAGGAGTTAGAAATTGGATCATTAAGAATAGCTACTAAACTATATTCTCAAGGTAAATTTTAATGTGATCTAGTAGCTGATTTTAATGAGCCCATTCTTTGTTCTTTGCTTACCTGTTTTAATGTTGTCATTTTTTTACATAAATATATGACTTAAATCAATGAAATACTCATTTTAAAAGTCACTGTGTAGTATTTCATAACACAGTGAAATAATCACGAGAGAGATCTTTTCTGTGTTTATGGATACTTGAGCAAAAATACAGAAGGCAGACTCTCTCCTCCTCTCTTCCTTTCACTCTTTTTTTTTTCTGTTAGAGTATCTTGTTTGTAATTAACTACAAAGAGGAGTTATCCTCCCAATAACAACTCAGTAGTGCCTTTATTGTGCATGCTTAGTCTTGTTATTCGTTGTATATGGCATTCCGATGATTTGTTTTTTTATTTGTTTTTTCTCACCTACCCAAAAATGCACTGCTGCCCCCATGATGCACCTCTGCTTGCTGTTTATGTTAATGCGCTTGAACCCCACTGGCCCATTGCCATCATGTGCTCGCTGCCTGCTAATTAAGACTCAGTCGGCTGTCAAATCACTGAAGCGACCCCTCGAGGCAACCTTTGACCTGGTACTATGACCTTTCACCTTTTAGCTTGGCATGTAGCTTTATTGTAGATACAAGTTTTTTTTTTAAATCAACTTTAAAATATATATCCTTTTTTCTGTTATAGAGTTGTAAAGTACAATGAAAAAACTGAGTGTGGTTTCCTGACAAAATTAGTAGAAAGACTATAATCTAAGTACATAGATGGATATCATACAATAAAAGATTCTGAAAGCCCAGCAGCCCACATTCAGTTTAACTACATTGTAGAATGTTCTGAAGAAATAGTCGGAGGACATAAAGAGTGTATTTTTGACTGTATATTTATGTACCTGTTTGGTTAGCATGGCTTTAGTGGTAGAATTATTTACATTTTAATATTTATAGTTCAGTATTTAAGGAAAAAAACTTGCATGCTCTGGGACATTTGCATGTCTAGGTAGATCTGGGGGGAGGAGCAGAGTGGGTTAGTTTTTATTTTATCTGTTTCAGTCACTCTGTACAATTAACTATTAACATTGCTTATACTTGTCAATCCTCATGGAGCTCGCAGTGCGGCTTTTCTTCTTTTCCCAAATCAATGGCTTCTCACAGAAAGCCTGAAGCATTATGGGACATAAAGCACTTTAACACATTATAACATGTGCTCTTGTACTAGTGAGATTTTGTTTTGGACAAAAATAATGCTTCCTTTAAAGCTTTTATCTTGCTTTTTTTTTTTTTTTCCTCCTTAATTTTTTGTTCATTGGATTTTTTCCCTCGGGTAGTTAAGTGCTCTGCTGCTTGCTTGCTCATGCTTCCTAACAATTTTAGCCTTCGACTGATTTTTCTTTTTTCTTTTTCTCTTTTTACTGGTATTTGTTTTTTATACTCATTCACTAAACAG
Seq C2 exon
GGAATTCCTCAAGCTGTACTTCCCCCATTACCAAAGAGGCCTGCTCTTGAAAAAACCAACGGTGCCACCGCAGTCTTTAACACTGGTATTTTCCAATACCAACAGGCTCTAGCCAACATGCAGTTACAACAGCATACAGCATTTCTCCCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601:ENST00000355460:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.347 A=NA C2=0.317
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PD(81.5=25.6)
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
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