HsaEX6059161 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152432717-152447773:+
Coord C1 exon
chr3:152432717-152432920
Coord A exon
chr3:152445282-152445539
Coord C2 exon
chr3:152447620-152447773
Length
258 bp
Sequences
Splice sites
3' ss Seq
TGTACTTAATGACCTCATAGGTA
3' ss Score
5.9
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
CCAATGTTTTCAGTTGCACCAAGCTTAGCCACCAATGCATCAGCAGCCGCCTTTAATCCCTATCTGGGACCTGTTTCTCCAAGCCTGGTCCCGGCAGAGATCTTGCCGACTGCACCAATGTTGGTTACAGGGAATCCGGGTGTCCCTGTACCTGCAGCTGCTGCAGCTGCTGCACAGAAATTAATGCGAACAGACAGACTTGAG
Seq A exon
GTATGTCGAGAGTACCAACGTGGCAATTGCAACCGAGGAGAAAATGATTGTCGGTTTGCTCATCCTGCTGACAGCACAATGATTGACACCAATGACAACACAGTCACTGTGTGTATGGATTACATCAAAGGGAGATGCTCTCGGGAAAAGTGCAAATACTTTCATCCCCCTGCACATTTGCAAGCCAAGATCAAGGCTGCCCAATACCAGGTCAACCAGGCTGCAGCTGCACAGGCTGCAGCCACCGCAGCTGCCATG
Seq C2 exon
GGAATTCCTCAAGCTGTACTTCCCCCATTACCAAAGAGGCCTGCTCTTGAAAAAACCAACGGTGCCACCGCAGTCTTTAACACTGGTATTTTCCAATACCAACAGGCTCTAGCCAACATGCAGTTACAACAGCATACAGCATTTCTCCCACCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'56-62,'56-59,59-62
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.760 A=0.347 C2=0.317
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PU(11.1=4.4)
A:
PF0064219=zf-CCCH=PD(81.5=25.6)
C2:
NO
Main Skipping Isoform:
ENST00000493459fB19610
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTGGGACCTGTTTCTCCAAGC
R:
TGGTGGGAGAAATGCTGTATGC
Band lengths:
294-552
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains