HsaEX0038124 @ hg38
Exon Skipping
Gene
ENSG00000076770 | MBNL3
Description
muscleblind like splicing regulator 3 [Source:HGNC Symbol;Acc:HGNC:20564]
Coordinates
chrX:132379204-132382272:-
Coord C1 exon
chrX:132382178-132382272
Coord A exon
chrX:132381359-132381432
Coord C2 exon
chrX:132379204-132379677
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
CTGAAATTCTGAACAGCAGAGTTATGGAGTATCAGAATCTTTCCATGGAAACCTCCATATGGCCTTTCTATATATATTCTCGTATGTCTTATTCTACCAACACAACAATAAGCGTGTTGCAGTCAATGTATTAAGCAAAGCAAACCTGCCAGCCAGCAAATTCAAATAAAAAATAAAGCATTAAAAATCAATGGAGATGTTAAAACAACACAAATAGAAAACTAGTAACTACCATCCATCCTATTTGAATTATCAAGCAGAACATGACCATAAAATTTGGTAACTTGTTACATTACTCTTTGTGATTTTCTAATAACCATGCTAAGTGTATTTCCACAGTGAGCTTTTGGCTTACTATATACATTCTTGGTGGATAAATTGTTCATCTGTTTTTGAAGTGTTACCTTACTATTTTGTTTACAAGATAGTCTATTGGGTTGATTCAGGATGTAACAAATATATTCAGTACCATTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076770_MULTIEX1-3/3=2-C2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (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