HsaEX6040781 @ hg38
Exon Skipping
Gene
ENSG00000139793 | MBNL2
Description
muscleblind like splicing regulator 2 [Source:HGNC Symbol;Acc:HGNC:16746]
Coordinates
chr13:97346804-97365171:+
Coord C1 exon
chr13:97346804-97347067
Coord A exon
chr13:97357482-97357635
Coord C2 exon
chr13:97365136-97365171
Length
154 bp
Sequences
Splice sites
3' ss Seq
ATCGAATTCTTCATTTCTAGGCC
3' ss Score
7.16
5' ss Seq
CAGGTATGT
5' ss Score
9.8
Exon sequences
Seq C1 exon
GTATGCAGGGAGTTCCAGCGAGGAAACTGTGCCCGGGGAGAGACCGACTGCCGCTTTGCACACCCCGCAGACAGCACCATGATCGACACAAGTGACAACACCGTAACCGTTTGTATGGATTACATAAAGGGGCGTTGCATGAGGGAGAAATGCAAATATTTTCACCCTCCTGCACACTTGCAGGCCAAAATCAAAGCTGCGCAGCACCAAGCCAACCAAGCTGCGGTGGCCGCCCAGGCAGCCGCGGCCGCGGCCACAGTCATG
Seq A exon
GCCTTTCCCCCTGGTGCTCTTCATCCTTTACCAAAGAGACAAGCACTTGAAAAAAGCAATGGTACCAGCGCGGTCTTTAACCCCAGCGTCTTGCACTACCAGCAGGCTCTCACCAGCGCACAGTTGCAGCAACACGCCGCGTTCATTCCAACAG
Seq C2 exon
GGTCAGTTTTGTGCATGACACCCGCTACCAGTATTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139793-'19-32,'19-28,23-32=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (disopred):
C1=0.280 A=0.519 C2=0.269
Domain overlap (PFAM):
C1:
PF0064219=zf-CCCH=PD(81.5=25.0)
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGACCGACTGCCGCTTTG
R:
TACTGGTAGCGGGTGTCATGC
Band lengths:
258-412
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains