HsaINT0100437 @ hg19
Intron Retention
Gene
ENSG00000152601 | MBNL1
Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Coordinates
chr3:152163071-152165562:+
Coord C1 exon
chr3:152163071-152163328
Coord A exon
chr3:152163329-152165408
Coord C2 exon
chr3:152165409-152165562
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-MBNL1:NM_207295:3
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.376 A=NA C2=0.394
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PD(81.5=33.8),PF0064219=zf-CCCH=WD(100=36.9)
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)