HsaEX0038108 @ hg19
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind-like splicing regulator 1 [Source:HGNC Symbol;Acc:6923]
Coordinates
chr3:152017194-152020238:+
Coord C1 exon
chr3:152017194-152018156
Coord A exon
chr3:152018670-152018762
Coord C2 exon
chr3:152019708-152020238
Length
93 bp
Sequences
Splice sites
3' ss Seq
TGTGGGCATTTTATTTTCAGGCC
3' ss Score
8.85
5' ss Seq
CATGTGAGT
5' ss Score
7.83
Exon sequences
Seq C1 exon
GGCACTGGGAAGGGGTTACTGAGAGCACAAGGCTGATACCAGGCCCTACTTTTAAACGTTCATCTACTTACAATCCTAGTATTTCTCTAAAAACCAAAACCTCTTTGAATTAACAGTTTCATGCTGTGAATTTCTAGTGGGAGATCTTTTCCTTGATATTGACGACACAATTTTCCATGTACTTTTAAAGCAGGGAGTGGGGAAAAGTATTTTGAGGGGACATTTTCATCATCAGTTCAGCTTTTTTTTTTTGGTTGTTGCTCTTTTTTGGGGGGGTTGGGTTTGTTGGTTTCACTGAAACATTTAACTACCTGTAAAATCTAAACATGGCTGTTAGTGTCACACCAATTCGGGACACAAAATGGCTAACACTGGAAGTATGTAGAGAGTTCCAGAGGGGGACTTGCTCACGGCCAGACACGGAATGTAAATTTGCACATCCTTCGAAAAGCTGCCAAGTTGAAAATGGACGAGTAATCGCCTGCTTTGATTCATTGAAA
Seq A exon
GCCAGAGCCACGCATTTTATGGAAAATGTAACTAGAAGTAAGGTGCTGAACTGCTGCTACAGCACCTTACCTGAGGCACAAACTTTGTTGCAT
Seq C2 exon
ACAGTTGATGGTGCACTCGTAGCTGCAAAATGAAGGACATTAAATTTGGCTGTGACATTGAGTGGTTACACAGAAGACCTGCTTCTACAACATTTGGAAACATTGTGAAACATTACTATTCAGTTGCTATTTTTCCATCTCAAAATATTTTTTTTTAGTTGCTGCTCACTTATGGCCACAGAACAGTCCCTTTTTGAGTAAAGCAGCAAGGTTGCTTAATGACATGCTATGTGGTTAACAAGATTCAACTGCCACATCAAGGACTTTAAATAATTTCAAGATTTTAAATGTATTTATGAAATGAACTCATTACAGCAGCTAATCAATGCAAACTTTGTCCTTTTTCTTTGTCTTTCTAAGAGAAACTGAATTTAATTTAAATTTAAATTACAGTGTCTAAAACTTGGTAAAATATTTTAAATTTGAATAAGAGGAAAAAAAAAACATGAATTTATTTATGATGGAGCTTCATACCCAGGACAGTAGCTTCTTAAATGTTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601-'8-15,'8-14,9-15
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.154 A=0.000 C2=NA
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
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:
CCAATTCGGGACACAAAATGGC
R:
GCTACGAGTGCACCATCAACT
Band lengths:
179-272
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development
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)