HsaEX0038118 @ hg38
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97343016-97357635:+
Coord C1 exon
chr13:97343016-97343216
Coord A exon
chr13:97346804-97347067
Coord C2 exon
chr13:97357482-97357635
Length
264 bp
Sequences
Splice sites
3' ss Seq
GCTCTTCTTCCCTGTCTTAGGTA
3' ss Score
10.28
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
CCCACTTTCCCTGTAGGTCCCGCGATAGGGACAAATACGGCTATTAGCTTTGCTCCTTACCTAGCACCTGTAACCCCTGGAGTTGGGTTGGTCCCAACGGAAATTCTGCCCACCACGCCTGTTATTGTTCCCGGAAGTCCACCGGTCACTGTCCCGGGCTCAACTGCAACTCAGAAACTTCTCAGGACTGACAAACTGGAG
Seq A exon
GTATGCAGGGAGTTCCAGCGAGGAAACTGTGCCCGGGGAGAGACCGACTGCCGCTTTGCACACCCCGCAGACAGCACCATGATCGACACAAGTGACAACACCGTAACCGTTTGTATGGATTACATAAAGGGGCGTTGCATGAGGGAGAAATGCAAATATTTTCACCCTCCTGCACACTTGCAGGCCAAAATCAAAGCTGCGCAGCACCAAGCCAACCAAGCTGCGGTGGCCGCCCAGGCAGCCGCGGCCGCGGCCACAGTCATG
Seq C2 exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'17-28,'17-24,19-28
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.744 A=0.280 C2=0.519
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PU(11.1=4.5)
A:
PF0064219=zf-CCCH=PD(81.5=25.0)
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CCCACTTTCCCTGTAGGTCCC
R:
GCAAGACGCTGGGGTTAAAGA
Band lengths:
295-559
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