HsaEX6059162 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152299405-152432920:+
Coord C1 exon
chr3:152299405-152300367
Coord A exon
chr3:152414941-152415111
Coord C2 exon
chr3:152432717-152432920
Length
171 bp
Sequences
Splice sites
3' ss Seq
TGCTGCTTTTGTTTCTCTAGGGC
3' ss Score
11.35
5' ss Seq
GTGGTAAGC
5' ss Score
8.15
Exon sequences
Seq C1 exon
GGCACTGGGAAGGGGTTACTGAGAGCACAAGGCTGATACCAGGCCCTACTTTTAAACGTTCATCTACTTACAATCCTAGTATTTCTCTAAAAACCAAAACCTCTTTGAATTAACAGTTTCATGCTGTGAATTTCTAGTGGGAGATCTTTTCCTTGATATTGACGACACAATTTTCCATGTACTTTTAAAGCAGGGAGTGGGGAAAAGTATTTTGAGGGGACATTTTCATCATCAGTTCAGCTTTTTTTTTTTGGTTGTTGCTCTTTTTTGGGGGGGTTGGGTTTGTTGGTTTCACTGAAACATTTAACTACCTGTAAAATCTAAACATGGCTGTTAGTGTCACACCAATTCGGGACACAAAATGGCTAACACTGGAAGTATGTAGAGAGTTCCAGAGGGGGACTTGCTCACGGCCAGACACGGAATGTAAATTTGCACATCCTTCGAAAAGCTGCCAAGTTGAAAATGGACGAGTAATCGCCTGCTTTGATTCATTGAAA
Seq A exon
GGCCGTTGCTCCAGGGAGAACTGCAAATATCTTCATCCACCCCCACATTTAAAAACGCAGTTGGAGATAAATGGACGCAATAACTTGATTCAGCAGAAGAACATGGCCATGTTGGCCCAGCAAATGCAACTAGCCAATGCCATGATGCCTGGTGCCCCATTACAACCCGTG
Seq C2 exon
CCAATGTTTTCAGTTGCACCAAGCTTAGCCACCAATGCATCAGCAGCCGCCTTTAATCCCTATCTGGGACCTGTTTCTCCAAGCCTGGTCCCGGCAGAGATCTTGCCGACTGCACCAATGTTGGTTACAGGGAATCCGGGTGTCCCTGTACCTGCAGCTGCTGCAGCTGCTGCACAGAAATTAATGCGAACAGACAGACTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'18-57,'18-47,44-57
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.151 A=0.564 C2=0.760
Domain overlap (PFAM):
C1:
NO
A:
PF0064219=zf-CCCH=PU(7.7=3.5)
C2:
PF0064219=zf-CCCH=PU(11.1=4.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GTCACACCAATTCGGGACACA
R:
GCTTGGAGAAACAGGTCCCAG
Band lengths:
246-417
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains