HsaEX1023077 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152432717-152445539:+
Coord C1 exon
chr3:152432717-152432920
Coord A exon
chr3:152437364-152437446
Coord C2 exon
chr3:152445282-152445539
Length
83 bp
Sequences
Splice sites
3' ss Seq
TAAAACTGACATCTTTACAGCAC
3' ss Score
5.76
5' ss Seq
TAGGTGAGT
5' ss Score
8.83
Exon sequences
Seq C1 exon
CCAATGTTTTCAGTTGCACCAAGCTTAGCCACCAATGCATCAGCAGCCGCCTTTAATCCCTATCTGGGACCTGTTTCTCCAAGCCTGGTCCCGGCAGAGATCTTGCCGACTGCACCAATGTTGGTTACAGGGAATCCGGGTGTCCCTGTACCTGCAGCTGCTGCAGCTGCTGCACAGAAATTAATGCGAACAGACAGACTTGAG
Seq A exon
CACCCAGTGTGATACTACAGAAAAAAAATGTTAAATTGGAAAACAGGAATTCAAGAATTACTGCATGTGATGTTGCTAATTAG
Seq C2 exon
GTATGTCGAGAGTACCAACGTGGCAATTGCAACCGAGGAGAAAATGATTGTCGGTTTGCTCATCCTGCTGACAGCACAATGATTGACACCAATGACAACACAGTCACTGTGTGTATGGATTACATCAAAGGGAGATGCTCTCGGGAAAAGTGCAAATACTTTCATCCCCCTGCACATTTGCAAGCCAAGATCAAGGCTGCCCAATACCAGGTCAACCAGGCTGCAGCTGCACAGGCTGCAGCCACCGCAGCTGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'56-59,'56-58,57-59
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=0.760 A=0.667 C2=0.347
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PU(11.1=4.4)
A:
NO
C2:
PF0064219=zf-CCCH=PD(81.5=25.6)
Main Inclusion Isoform:
ENST00000493459fB19610
Other Inclusion Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCTGTTTCTCCAAGCCTGG
R:
TGCAATTGCCACGTTGGTACT
Band lengths:
168-251
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains