HsaEX1023078 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152335111-152415111:+
Coord C1 exon
chr3:152335111-152335230
Coord A exon
chr3:152338118-152338673
Coord C2 exon
chr3:152414941-152415111
Length
556 bp
Sequences
Splice sites
3' ss Seq
TTCCTTACTTTTCTTTCTAGAAC
3' ss Score
10.02
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
CAGTCACTCAGGAAATGTTGTTTAAGGGGAACCTTCTGGATCCTTTTCATGGCACCATGGCAAGAAGAAGCTGTATCTTATCTATGGAAGATAAAGCATGGAGTTGGCTAATGGATGCTG
Seq A exon
AACTAAATCTCCATACCCACTTCATCCGTGTTTTTGGCTTATGTATGGGATGCTAGAATGGCCTATCTCCATGTATTTTGTTGCATTTCTCCATTGCTTCTTGTGTTCTGGCGGGAATCTTGGTGATTCTTTTCAAGCACTACCTGAGCTCTGTGCCAATTGTTCCTCTTCTCCCAGGGTGTTGTGCTGCGTGGTCATGTCTCCACTTCCTTAGCCCTGTCCATTGACAGAACCTTGGGTTCTGTGATGGCTGCCTCTAAACCCTTGTGAAAGCGGGGAATATTCCTCCCCCTGCTGCTACAGTTGAGCACCGTGCTGGGTACCATGTTGCCCTCTACACTTGCTTTCAGTTGTTAAGGCTTCCCAAGCTTTGGCTGTGGCTCAGTGATCCTGCTGTCAAAACCCTGAAACTTTCCTAGCCTGGACACTCAGTGGTAGCAGCAGGTGTTGGGATTTCTCCAAGCCCCTAAGACTCTGGGAGGAAGAGAATGGCTGTTTGACATAGACCTCAGGAGTTTTCAAAGCACCAAGAAACCTCTCCAGAAGATATGTAAAG
Seq C2 exon
GGCCGTTGCTCCAGGGAGAACTGCAAATATCTTCATCCACCCCCACATTTAAAAACGCAGTTGGAGATAAATGGACGCAATAACTTGATTCAGCAGAAGAACATGGCCATGTTGGCCCAGCAAATGCAACTAGCCAATGCCATGATGCCTGGTGCCCCATTACAACCCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601_MULTIEX1-6/7=5-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (disopred):
C1=1.000 A=NA C2=0.564
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0064219=zf-CCCH=PU(7.7=3.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTCAGGAAATGTTGTTTAAGGGGA
R:
CACGGGTTGTAATGGGGCAC
Band lengths:
286-842
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains