HsaINT0100403 @ hg38
Intron Retention
Gene
ENSG00000166987 | MBD6
Description
methyl-CpG binding domain protein 6 [Source:HGNC Symbol;Acc:HGNC:20445]
Coordinates
chr12:57528147-57528718:+
Coord C1 exon
chr12:57528147-57528560
Coord A exon
chr12:57528561-57528665
Coord C2 exon
chr12:57528666-57528718
Length
105 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
3' ss Seq
CATAGTCCATCTTTTCTCAGGTG
3' ss Score
8.4
Exon sequences
Seq C1 exon
ATCCCTCCAGAGCAGCCAGAAGCCCCCTGTCTACCCCCCGAGAGCCCTGCCTCAGCCCTCGAACCAGAGCCTGCCAGGCCTCCCCTCAGTGCCTTAGCCCCACCCCATGGTTCTCCCGACCCCCCAGTCCCTGAGCTGCTCACTGGGAGGGGGTCAGGGAAACGGGGCCGGAGGGGAGGAGGGGGACTTAGGGGCATTAATGGTGAGGCCAGGCCAGCCCGGGGCCGAAAGCCTGGCAGCCGGCGGGAGCCTGGCCGACTGGCCCTCAAATGGGGGACACGTGGTGGCTTCAATGGACAAATGGAAAGGTCCCCAAGAAGAACCCACCATTGGCAGCATAATGGGGAGCTGGCTGAAGGGGGTGCTGAGCCCAAGGATCCACCCCCTCCCGGGCCCCATTCTGAGGACCTTAAG
Seq A exon
GTGAGTGCAGAGTGCTGGTAGTCTGGGCTCAGGGGCTCTGAGGAAAGGTTGGGGCTTTGGAGCCTTTTTCGAAATTTCCCACACACATAGTCCATCTTTTCTCAG
Seq C2 exon
GTGCCCCCGGGAGTAGTCAGAAAGTCTCGTCGTGGCCGTAGGAGAAAATACAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000166987:ENST00000355673:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
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 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:
GGGGCATTAATGGTGAGGCC
R:
ACTTTCTGACTACTCCCGGGG
Band lengths:
249-354
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