HsaEX6053380 @ hg38
Exon Skipping
Gene
ENSG00000076770 | MBNL3
Description
muscleblind like splicing regulator 3 [Source:HGNC Symbol;Acc:HGNC:20564]
Coordinates
chrX:132390847-132406392:-
Coord C1 exon
chrX:132406228-132406392
Coord A exon
chrX:132392143-132392334
Coord C2 exon
chrX:132390847-132391083
Length
192 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTTTTAAACATACAGGGT
3' ss Score
7.38
5' ss Seq
GAGGTATTT
5' ss Score
7.63
Exon sequences
Seq C1 exon
GGTCGGTGTACCCGAGAGAACTGCAAGTACCTTCACCCTCCTCCACACTTAAAAACGCAGCTGGAGATTAATGGGCGGAACAATCTGATTCAACAGAAGACTGCCGCAGCCATGTTCGCCCAGCAGATGCAGCTTATGCTCCAAAACGCTCAAATGTCATCACTT
Seq A exon
GGTTCTTTTCCTATGACTCCATCAATTCCAGCTAATCCTCCCATGGCTTTCAATCCTTACATACCACATCCTGGGATGGGCCTCGTTCCTGCAGAACTTGTACCAAATACACCTGTTCTGATTCCTGGAAACCCACCTCTTGCAATGCCAGGAGCTGTTGGCCCAAAACTGATGCGTTCAGATAAACTGGAG
Seq C2 exon
GTTTGCCGAGAATTTCAGCGTGGAAATTGTACCCGTGGGGAGAATGATTGCCGCTATGCTCACCCTACTGATGCTTCCATGATTGAAGCGAGTGATAATACTGTGACAATCTGCATGGATTACATCAAAGGTCGATGCTCGCGGGAGAAATGCAAGTACTTTCATCCTCCTGCACACTTGCAAGCCAGACTCAAGGCAGCTCATCATCAGATGAACCATTCAGCTGCCTCTGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076770-'12-21,'12-20,17-21=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (disopred):
C1=0.352 A=0.958 C2=0.330
Domain overlap (PFAM):
C1:
NO
A:
PF0064219=zf-CCCH=PU(11.1=4.7)
C2:
PF0064219=zf-CCCH=PD(81.5=27.8)
Main Skipping Isoform:
ENST00000370844fB19613
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CAGCTGGAGATTAATGGGCGG
R:
GCGAGCATCGACCTTTGATGT
Band lengths:
250-442
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains