HsaINT0100413 @ hg38
Intron Retention
Gene
ENSG00000166987 | MBD6
Description
methyl-CpG binding domain protein 6 [Source:HGNC Symbol;Acc:HGNC:20445]
Coordinates
chr12:57527848-57528560:+
Coord C1 exon
chr12:57527848-57528017
Coord A exon
chr12:57528018-57528146
Coord C2 exon
chr12:57528147-57528560
Length
129 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ACTTATTTTTTTGCCAGCAGATC
3' ss Score
7.42
Exon sequences
Seq C1 exon
GTGACCTGTCTTCACTGACCAGCAGCCCTGGAGCCCTCCCCAGCCTGTTGCAGCCTCCTGGCCCTCTTCTCTCTGGCCAGTTGGGGCTGCAGCTCCTCCCTGGGGGGGGAGCTCCTCCACCCCTCTCAGAGGCTTCTAGTCCCCTAGCCTGCCTGCTACAGAGTCTCCAG
Seq A exon
GTGAGGGTGTGGGCATATATTTGTCAGGGAGATAATTTTTTCTCAAACTGGAAATTTAGGGCTTTCTGAGTTATAGTAGAAGAGGGACGGTATTTGAGATTGACTGAGAACTTATTTTTTTGCCAGCAG
Seq C2 exon
ATCCCTCCAGAGCAGCCAGAAGCCCCCTGTCTACCCCCCGAGAGCCCTGCCTCAGCCCTCGAACCAGAGCCTGCCAGGCCTCCCCTCAGTGCCTTAGCCCCACCCCATGGTTCTCCCGACCCCCCAGTCCCTGAGCTGCTCACTGGGAGGGGGTCAGGGAAACGGGGCCGGAGGGGAGGAGGGGGACTTAGGGGCATTAATGGTGAGGCCAGGCCAGCCCGGGGCCGAAAGCCTGGCAGCCGGCGGGAGCCTGGCCGACTGGCCCTCAAATGGGGGACACGTGGTGGCTTCAATGGACAAATGGAAAGGTCCCCAAGAAGAACCCACCATTGGCAGCATAATGGGGAGCTGGCTGAAGGGGGTGCTGAGCCCAAGGATCCACCCCCTCCCGGGCCCCATTCTGAGGACCTTAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166987:ENST00000355673:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.992 A=NA C2=1.000
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:
GAGGCTTCTAGTCCCCTAGCC
R:
TTAATGCCCCTAAGTCCCCCT
Band lengths:
242-371
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