HsaEX0038097 @ hg38
Exon Skipping
Gene
ENSG00000166987 | MBD6
Description
methyl-CpG binding domain protein 6 [Source:HGNC Symbol;Acc:HGNC:20445]
Coordinates
chr12:57529160-57530148:+
Coord C1 exon
chr12:57529160-57529329
Coord A exon
chr12:57529611-57529674
Coord C2 exon
chr12:57529934-57530148
Length
64 bp
Sequences
Splice sites
3' ss Seq
CATTGCCTCCCTTCTTAAAGCCA
3' ss Score
6.48
5' ss Seq
AAGGTACAA
5' ss Score
6.82
Exon sequences
Seq C1 exon
GCAGCTGTCCCTCTGCCTCCCCGGGCCCGCCCTGGCCGTCCTGCCAAAAACAAGAGGAGGAAACTGGCCCCATAGCAGCCATACCTGGAGCTGGATCTGACCCTGATTGGGGAGAGCTGAGTGCTGAGCCTTGGGAGCCCCTGCCAGCCACCTGCACCTGTGGACAGTGG
Seq A exon
CCAACAGGCTCAGTTTACAAACCTGTGAGCTACTGTTGGCTGCTGCCCTCCTTCCCAGTGAAAG
Seq C2 exon
AGACGTTGTGATGATGCGACTGAGGATTATGCAACGTGGTCCAACCGGAGCGGCCAGCATGACCAGCTGTCCAGGGGCTGCCTCCTGCCTTTTCTTTTGTAAAGACAAGACCCTTGGGAGTTTTAATTCTGTTTTGTACTTGCCCTGTGGGGCCTCCACTGCTTTTCTATGGGAGACACTCTTAATTTAACAGATGAGAATATTTTGAAACTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166987_CASSETTE1
Average complexity
S*
Mappability confidence:
100%=100=100%
Protein Impact
3' UTR
No structure available
Features
Disorder rate (Iupred):
C1=1.000 A=NA C2=1.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
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:
TACCTGGAGCTGGATCTGACC
R:
CGGTTGGACCACGTTGCATAA
Band lengths:
136-200
Functional annotations
There are 1 annotated functions for this event
PMID: 31911676
[CRISPR screen]. Conserved poison exon with negative fitness/survivability impact when depleted: HeLa Depleted at 14 days (FC=0.577, FDR=0.000), PC9 No Change at 14 days (FC=0.826, FDR=0.019), Late Xenograft Depleted (FC=0.770, FDR=0.004).
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development