HsaEX0038120 @ hg38
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97357482-97394120:+
Coord C1 exon
chr13:97357482-97357635
Coord A exon
chr13:97365136-97365171
Coord C2 exon
chr13:97391322-97394120
Length
36 bp
Sequences
Splice sites
3' ss Seq
CCACCATTGCATGACATCAGGGT
3' ss Score
3.57
5' ss Seq
TTGGTAGGT
5' ss Score
7.03
Exon sequences
Seq C1 exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq A exon
GGTCAGTTTTGTGCATGACACCCGCTACCAGTATTG
Seq C2 exon
ATAATTCTGAAATAATCAGCAGAAACGGAATGGAATGCCAAGAATCTGCATTGAGAATAACTAAACATTGTTACTGTACATACTATCCTGTTTCCTCCTCAATAGAATTGCCACAAACTGCATGCTAAATAAAGATGTAGTTCTTCTGGACAGACCACAACTCTAAGAAGCTAGTGCTGCTATCTCATATATGAGTATTAAATATGGTATGCTTAGTATATTCCAACCTAAGATAGTTAACTACCTGAGACCAGCTGTGATGTTTAAAGACATAAAGGATAAAGTTTACTTTTAAAGGGTTTCTAAACATAGTTTCTGTCCTAGGAATATTGTCTTATCTCCATAACTATAGCTGATGCAGAAAGTCCAGCCAGTTTACTCATTTCGATTCAGAATATTTCAAATTTAGCAATAAACAATTAGCATTAGTTAAAAAAGAAACATATTCCAAGGGCAGGTTCGATTCTAGCTCTAATTACTGTCATGTCATTTACCCACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793_MULTIEX2-1/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.519 A=0.269 C2=0.491
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCTTTAACCCCAGCGTCTTGC
R:
GGCATTCCATTCCGTTTCTGC
Band lengths:
120-156
Functional annotations
There are 1 annotated functions for this event
PMID: 21454535
Inferred from MBNL1 ortholog: The exon 7 region enhances MBNL1-MBNL1 dimerization properties
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