HsaINT0100412 @ hg38
Intron Retention
Gene
ENSG00000166987 | MBD6
Description
methyl-CpG binding domain protein 6 [Source:HGNC Symbol;Acc:HGNC:20445]
Coordinates
chr12:57527507-57528017:+
Coord C1 exon
chr12:57527507-57527660
Coord A exon
chr12:57527661-57527847
Coord C2 exon
chr12:57527848-57528017
Length
187 bp
Sequences
Splice sites
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
3' ss Seq
TGACTATAATTTCTCAACAGGTG
3' ss Score
10.16
Exon sequences
Seq C1 exon
CCCTGTGTCCTGAGTGCCCCCCAACCTGGACCACCTACCTCCAGTGTCACCACGGCAACTACTGACCCGGGGGCCTCCTCTCTGGGCAAGGCCCCCTCCAACTCAGGGAGACCCCCCCAACTCCTTAGCCCTCTGCTGGGTGCCAGCCTGCTGG
Seq A exon
GTGAGTCTGAGGGAGTGTGAATTCACACTCTTGGTGTGAAAAAGCAGGAGTAAAACTTGGGAGTAGTGGCTGAATAAATTGGGGAAGAAAGTCTTTGGCCACTGGATAAAGCCTAAAGAGAATAGTAGGTCTGCTCAGCCTAATTGGTTTGCCTAGGGAGAGACCCCTGACTATAATTTCTCAACAG
Seq C2 exon
GTGACCTGTCTTCACTGACCAGCAGCCCTGGAGCCCTCCCCAGCCTGTTGCAGCCTCCTGGCCCTCTTCTCTCTGGCCAGTTGGGGCTGCAGCTCCTCCCTGGGGGGGGAGCTCCTCCACCCCTCTCAGAGGCTTCTAGTCCCCTAGCCTGCCTGCTACAGAGTCTCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166987:ENST00000355673:8
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.942 A=NA C2=0.992
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
NO
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
GTCACCACGGCAACTACTGAC
R:
GGGGACTAGAAGCCTCTGAGA
Band lengths:
253-440
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development