HsaEX0038124 @ hg19
Exon Skipping
Gene
ENSG00000076770 | MBNL3
Description
muscleblind-like splicing regulator 3 [Source:HGNC Symbol;Acc:20564]
Coordinates
chrX:131512177-131516300:-
Coord C1 exon
chrX:131516206-131516300
Coord A exon
chrX:131515387-131515460
Coord C2 exon
chrX:131512177-131513705
Length
74 bp
Sequences
Splice sites
3' ss Seq
AATCTTTTTTACTACTATAGATA
3' ss Score
6.72
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
TGCCCATGATGCACGGTGCTACACCTACCACTGTGTCTGCAGCAACAACACCTGCCACCAGCGTTCCGTTCGCTGCACCAACTACAGGCAATCAG
Seq A exon
ATACCCCAATTATCAATAGATGAACTGAATAGCAGCATGTTTGTTTCACAGATGTAGAAGTTCTCAGTAGAACA
Seq C2 exon
CTGAAATTCTGAACAGCAGAGTTATGGAGTATCAGAATCTTTCCATGGAAACCTCCATATGGCCTTTCTATATATATTCTCGTATGTCTTATTCTACCAACACAACAATAAGCGTGTTGCAGTCAATGTATTAAGCAAAGCAAACCTGCCAGCCAGCAAATTCAAATAAAAAATAAAGCATTAAAAATCAATGGAGATGTTAAAACAACACAAATAGAAAACTAGTAACTACCATCCATCCTATTTGAATTATCAAGCAGAACATGACCATAAAATTTGGTAACTTGTTACATTACTCTTTGTGATTTTCTAATAACCATGCTAAGTGTATTTCCACAGTGAGCTTTTGGCTTACTATATACATTCTTGGTGGATAAATTGTTCATCTGTTTTTGAAGTGTTACCTTACTATTTTGTTTACAAGATAGTCTATTGGGTTGATTCAGGATGTAACAAATATATTCAGTACCATTTCTTGTGTTGTATTGTGTTGTGCTGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076770_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref, Alt. Stop)
No structure available
Features
Disorder rate (disopred):
C1=0.764 A=0.722 C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCACCAACTACAGGCAATCA
R:
ATTTGCTGGCTGGCAGGTTT
Band lengths:
183-257
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)