HsaEX0038095 @ hg38
Exon Skipping
Gene
ENSG00000166987 | MBD6
Description
methyl-CpG binding domain protein 6 [Source:HGNC Symbol;Acc:HGNC:20445]
Coordinates
chr12:57522744-57524416:+
Coord C1 exon
chr12:57522744-57523011
Coord A exon
chr12:57524029-57524092
Coord C2 exon
chr12:57524280-57524416
Length
64 bp
Sequences
Splice sites
3' ss Seq
TCTCTCTACTTGCGTTGCAGGTG
3' ss Score
10.61
5' ss Seq
CAGGTAGCT
5' ss Score
6.52
Exon sequences
Seq C1 exon
GCGGCTGCGGCAGCGACGGCGGCGGCGGCAGCGGCAGCAGCCTGCGCAGTGCCTTCTGGGAACGGAATCCCCAGGGCTGCCCCTGGCCCCCATGGCGCATGCGCGGGAGGCCGCTCGGTGATCCGCGGCGGCGGCAGCGGCGCTTCCTGCTAGGACCGGCCGGGGCCGTACCGGAGGCTCGGGCTCCACCGACCCTCCTCCCACCCCCTCCCACTCACCCTCTGGGCCGCGACTGCGCAGGGCGGGGCCGGCCGAACCATGGGCCGCG
Seq A exon
GTGTGGGCTAAGCTGGTGGCCCCGGCTTTAGACTGGACCCCACAATGTTTGCAGAGATGTTCAG
Seq C2 exon
GCACGCGGGAGCTGATTACACACAATGAATGGGGGCAATGAGAGCAGTGGAGCAGACAGAGCTGGGGGCCCTGTGGCCACATCTGTCCCCATCGGCTGGCAGCGCTGTGTGCGAGAGGGTGCTGTGCTCTACATCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166987-'3-15,'3-10,6-15
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=NA A=0.447 C2=0.434
Domain overlap (PFAM):
C1:
NA
A:
PF0142914=MBD=PU(61.9=68.4)
C2:
PF0142914=MBD=PU(43.3=68.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCCACCGACCCTCCTCC
R:
TGTCTGCTCCACTGCTCTCAT
Band lengths:
143-207
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