HsaEX0038108 @ hg38
Exon Skipping
Gene
ENSG00000152601 | MBNL1
Description
muscleblind like splicing regulator 1 [Source:HGNC Symbol;Acc:HGNC:6923]
Coordinates
chr3:152299405-152415111:+
Coord C1 exon
chr3:152299405-152300367
Coord A exon
chr3:152300881-152300973
Coord C2 exon
chr3:152414941-152415111
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
GGCCGTTGCTCCAGGGAGAACTGCAAATATCTTCATCCACCCCCACATTTAAAAACGCAGTTGGAGATAAATGGACGCAATAACTTGATTCAGCAGAAGAACATGGCCATGTTGGCCCAGCAAATGCAACTAGCCAATGCCATGATGCCTGGTGCCCCATTACAACCCGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000152601_MULTIEX1-4/7=3-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.151 A=0.387 C2=0.564
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0064219=zf-CCCH=PU(7.7=3.5)
Main Inclusion Isoform:
ENST00000282488fB4146
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
AATGGACGAGTAATCGCCTGC
R:
TAGTTGCATTTGCTGGGCCAA
Band lengths:
168-261
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