HsaEX6059160 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152456267-152465779:+
Coord C1 exon
chr3:152456267-152456361
Coord A exon
chr3:152459271-152459345
Coord C2 exon
chr3:152462385-152465779
Length
75 bp
Sequences
Splice sites
3' ss Seq
AATAATTTTTTATTTGCTAGATA
3' ss Score
6.07
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
TTCCCATGGTGCACGGTGCTACGCCAGCCACTGTGTCCGCAGCAACAACATCTGCCACAAGTGTTCCCTTCGCTGCAACAGCCACAGCCAACCAG
Seq A exon
ATACCCATAATATCTGCCGAACATCTGACTAGCCACAAGTATGTTACCCAGATGTAGAATTTTCATCACTAAACA
Seq C2 exon
ATCATGCTAAAGAGGAAAGGACAGTGTGCTTGGTTAGAGTAAAGGACGAGGTCATTAGCCATATTGTATATATCGTCAAGCAACACACACAAAAGTTCCTCAGCCACAAGACATCCACATATTGCATGTTAACCAGAAGAAAAGACAACATTTTCCGGAAATCCACTGCACACTGTTGCCTATACACTTTGTACATTTAATTGATATTTGTGCTGAGGTGATATTCCTGTCTAAAAGAACAACATTGTCTTTCTTTTCTAGCACAGAGTTATGCATTCAAAGATGCATACCTAGTTAGTTTCCTATATATTCATGCCATCTTGAAAAGACAGACTATGGTGTAACCATGATTCTATTATGTATTGGTACGTCTGTAGACCAAGATATAATTTTTTAAAAATAAGTTTATTTCTTTCAAGGTTTACAAATAACAAAGGTGCACCTTGTATTTAAAATTGCCATTATAGATGAGAGCGTGCATGCACAGTCATTTTTGTTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'66-75,'66-74,70-75
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. Stop)
No structure available
Features
Disorder rate (disopred):
C1=0.627 A=0.184 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGTCCGCAGCAACAACATCTG
R:
GTGGATGTCTTGTGGCTGAGG
Band lengths:
180-255
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains