HsaEX6040784 @ hg38
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97141358-97334440:+
Coord C1 exon
chr13:97141358-97141907
Coord A exon
chr13:97275632-97276409
Coord C2 exon
chr13:97334276-97334440
Length
778 bp
Sequences
Splice sites
3' ss Seq
ATTTCATTTCTGTTTTGCAGGTT
3' ss Score
11.29
5' ss Seq
AAGGTAAGA
5' ss Score
10.57
Exon sequences
Seq C1 exon
AGCCAACTGTGCCAGCTCTTTTGAGGAAATAGTATTTATTGAGAGGAGATAATACATGTTTGAATTTTTCCAATTGTTCTTTATGCTGAATATTCTTCATTTAAAAGTAGCTCACATATTTTTTCTGCAGTCTTTAATTGCAGATGAGTTAGGTCTACAACTTCTTTGGTGCCTCTGTGCACACTACAGTTTGCACACACACACCCTGTCACTACTCTCTTTTATTCTATAGGATCGTTTTATGGAGTTCAAAGTCCTCAAAGCTTGCAGGGAAGGGAGGAGGGCTAGGGAAAAGGACGATTGTGCTAAGCCTGAGTGTAAACTCCCCTGGAGCAGAGAATGACTCACATTCTCTGTGACATGAGTCACTCCCATGCAAAACTGGAGTTGCGAGCTACTACTTTGCCTGTAGCTGTTTGTTTGTTCAGAGGCAGATGGAAGGCAGAGGCTGCGCAGAGAATGGAGAGCTGTGTCTGAGGAGCCTTGGAACATTCACCCAG
Seq A exon
GTTTATCATTTAAAAGTGCCTGTGTGAAGTCACTTTTGCTGGAAAACTGCAGCTTGGGAGCTTTCTTTGTATTCACATCCCACTCTTCTGTCAAGTACACTTTACCCTGACCTTATGAGTGGATGAAGATACCTCAGTTGTCTGACTTTGCCAATTGCTTAATTTCAGAATTTAAAAAGGGGAAAGAAAAACATCCTGCTAAAATATGAACATCTGAGTGTCTTATTTTCCAACATCGTCAATAGCTGTGAGCGTCAGCATTAAATATTCTCCCAAGGAGTGCCATGATATTGAAGTCACTTTATTAATAACAGCTGTATCTGCAAAACAGTCAAGAGACTCGGACGTTGAAAGCCAGAGATGACACTGAGCATGCTTTTATTGCGGCCTACCATCTTTAAGTGGGACATATTGATTGATGAGTGATTGCCTGTCCATACACTCTCTCATCATCCTGTTCCTTGGATTGGACTTCACTAAGCAATTTATCACTCACCTTCAGACTTACATGTGGGAGTTTTCACAACAGTAGTTTTGGAATCATTAGAACTTGGATTGATTTCATCATTTAACAGAAACAAACAGCCCAAATTACTTTATCACCATGGCTTTGAACGTTGCCCCAGTCAGAGATACAAAATGGCTGACATTAGAAGTCTGCAGACAGTTTCAAAGAGGAACATGCTCACGCTCTGATGAAGAATGCAAATTTGCTCATCCCCCCAAAAGTTGTCAGGTTGAAAATGGAAGAGTAATTGCCTGCTTTGATTCCCTAAAG
Seq C2 exon
GGCCGTTGTTCGAGAGAGAACTGCAAGTATCTTCACCCTCCGACACACTTAAAAACTCAACTAGAAATTAATGGAAGGAACAATTTGATTCAGCAAAAAACTGCAGCAGCAATGCTTGCCCAGCAGATGCAATTTATGTTTCCAGGAACACCACTTCATCCAGTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793_MULTIEX1-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
No structure available
Features
Disorder rate (disopred):
C1=NA A=0.152 C2=0.621
Domain overlap (PFAM):
C1:
NA
A:
PF0064219=zf-CCCH=WD(100=43.1)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGCCTCTGTGCACACTACAG
R:
GTTCTCTCTCGAACAACGGCC
Band lengths:
353-1131
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains