HsaEX6015832 @ hg38
Exon Skipping
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148483110-148490594:+
Coord C1 exon
chr2:148483110-148483436
Coord A exon
chr2:148485742-148485950
Coord C2 exon
chr2:148489386-148490594
Length
209 bp
Sequences
Splice sites
3' ss Seq
TTATGTTTTTCAAACTGTAGGTG
3' ss Score
8.52
5' ss Seq
CAGGTACTC
5' ss Score
7.04
Exon sequences
Seq C1 exon
GCGGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACCACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGAACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAATATCCTCCAGCCTTCAGCAGGAGAAG
Seq A exon
GTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAG
Seq C2 exon
GTGAGAATGCAGGAAGATGCAGCTCTCCTAAACAAAAGAATAAGCACTCAGCCTGGGCTCACAGCACTTCCTGAGAATCCAAACACTACACTTCCACCTTTTCAAGATACACCTTGTGAGTTGCAACCGAGGATTGACCCATCTCTTGGTCAACAGGTGAAGGATGGCCTCGTTGTGGGTGGCCCAGGTGATGCTTCCGTAGATGCCATTTACAAAGCAGTTGTCGATGCAGCCAGCAAAGGAATGCAGGTTGTCATCACCACTGCAGTCAACAGTACAACTCAGATCAGCCCCATTCCAGCTCTGAGTGCCATGAGTGCCTTCACTGCCTCAATTGGTGACCCATTAAATCTCTCCAGTGCTGTCAGTGCGGTCATTCATGGACGGAACATGGGAGGTGTTGATCATGATGGTAGGCTGAGGAATTCAAGAGGGGCTCGGCTGCCCAAGAATCTAGACCATGGGAAAAATGTGAACGAAGGAGATGGGTTTGAATATTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406-'66-74,'66-73,68-74
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.444 A=0.566 C2=0.523
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0085512=PWWP=PU(46.3=9.4)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCATCTTCCACACCCCTTGA
R:
GAGGCCATCCTTCACCTGTTG
Band lengths:
294-503
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains