HsaEX6040783 @ hg38
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97275632-97343216:+
Coord C1 exon
chr13:97275632-97276409
Coord A exon
chr13:97334276-97334440
Coord C2 exon
chr13:97343016-97343216
Length
165 bp
Sequences
Splice sites
3' ss Seq
ACCAACACTTGTTTTTACAGGGC
3' ss Score
8.96
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
AGTGCCATGATATTGAAGTCACTTTATTAATAACAGCTGTATCTGCAAAACAGTCAAGAGACTCGGACGTTGAAAGCCAGAGATGACACTGAGCATGCTTTTATTGCGGCCTACCATCTTTAAGTGGGACATATTGATTGATGAGTGATTGCCTGTCCATACACTCTCTCATCATCCTGTTCCTTGGATTGGACTTCACTAAGCAATTTATCACTCACCTTCAGACTTACATGTGGGAGTTTTCACAACAGTAGTTTTGGAATCATTAGAACTTGGATTGATTTCATCATTTAACAGAAACAAACAGCCCAAATTACTTTATCACCATGGCTTTGAACGTTGCCCCAGTCAGAGATACAAAATGGCTGACATTAGAAGTCTGCAGACAGTTTCAAAGAGGAACATGCTCACGCTCTGATGAAGAATGCAAATTTGCTCATCCCCCCAAAAGTTGTCAGGTTGAAAATGGAAGAGTAATTGCCTGCTTTGATTCCCTAAAG
Seq A exon
GGCCGTTGTTCGAGAGAGAACTGCAAGTATCTTCACCCTCCGACACACTTAAAAACTCAACTAGAAATTAATGGAAGGAACAATTTGATTCAGCAAAAAACTGCAGCAGCAATGCTTGCCCAGCAGATGCAATTTATGTTTCCAGGAACACCACTTCATCCAGTG
Seq C2 exon
CCCACTTTCCCTGTAGGTCCCGCGATAGGGACAAATACGGCTATTAGCTTTGCTCCTTACCTAGCACCTGTAACCCCTGGAGTTGGGTTGGTCCCAACGGAAATTCTGCCCACCACGCCTGTTATTGTTCCCGGAAGTCCACCGGTCACTGTCCCGGGCTCAACTGCAACTCAGAAACTTCTCAGGACTGACAAACTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'9-22,'9-20,15-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.152 A=0.621 C2=0.744
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=WD(100=43.1)
A:
NO
C2:
PF0064219=zf-CCCH=PU(11.1=4.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACGTTGCCCCAGTCAGAGATA
R:
TCCAGGGGTTACAGGTGCTAG
Band lengths:
245-410
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains