HsaEX6059162 @ hg19
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Coordinates
chr3:152017194-152150709:+
Coord C1 exon
chr3:152017194-152018156
Coord A exon
chr3:152132730-152132900
Coord C2 exon
chr3:152150506-152150709
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-'8-24,'8-20,17-24=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.154 A=0.681 C2=0.836
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:
ENSP00000282488, ENSP00000319374, ENSP00000319429, ENSP00000347637, ENSP00000347637f6634A, ENSP00000350064, ENSP00000417630, ENSP00000417741, ENSP00000418108, ENSP00000418109, ENSP00000418427, ENSP00000418508, ENSP00000418876, ENSP00000419347, ENSP00000420103, ENSP00000420327, ENSP00000420680, ENSP00000437491
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)