HsaEX0038122 @ hg19
Exon Skipping
Gene
ENSG00000076770 | MBNL3
Description
muscleblind-like splicing regulator 3 [Source:HGNC Symbol;Acc:20564]
Coordinates
chrX:131503345-131518726:-
Coord C1 exon
chrX:131518691-131518726
Coord A exon
chrX:131516206-131516300
Coord C2 exon
chrX:131503345-131513705
Length
95 bp
Sequences
Splice sites
3' ss Seq
CTATGGTTTTCAACTGAAAGTGC
3' ss Score
0.98
5' ss Seq
CAGGTTTGG
5' ss Score
5.63
Exon sequences
Seq C1 exon
GGCCAATACTGTGCATGGCACCCGCTTCAAATATTG
Seq A exon
TGCCCATGATGCACGGTGCTACACCTACCACTGTGTCTGCAGCAACAACACCTGCCACCAGCGTTCCGTTCGCTGCACCAACTACAGGCAATCAG
Seq C2 exon
CTGAAATTCTGAACAGCAGAGTTATGGAGTATCAGAATCTTTCCATGGAAACCTCCATATGGCCTTTCTATATATATTCTCGTATGTCTTATTCTACCAACACAACAATAAGCGTGTTGCAGTCAATGTATTAAGCAAAGCAAACCTGCCAGCCAGCAAATTCAAATAAAAAATAAAGCATTAAAAATCAATGGAGATGTTAAAACAACACAAATAGAAAACTAGTAACTACCATCCATCCTATTTGAATTATCAAGCAGAACATGACCATAAAATTTGGTAACTTGTTACATTACTCTTTGTGATTTTCTAATAACCATGCTAAGTGTATTTCCACAGTGAGCTTTTGGCTTACTATATACATTCTTGGTGGATAAATTGTTCATCTGTTTTTGAAGTGTTACCTTACTATTTTGTTTACAAGATAGTCTATTGGGTTGATTCAGGATGTAACAAATATATTCAGTACCATTTCTTGTGTTGTATTGTGTTGTGCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076770-'14-19,'14-17,16-19
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.427 A=0.764 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGCACCCGCTTCAAATATTG
R:
AATTTGCTGGCTGGCAGGTTT
Band lengths:
183-278
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- 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)