HsaEX0038086 @ hg38
Exon Skipping
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148458203-148470461:+
Coord C1 exon
chr2:148458203-148458871
Coord A exon
chr2:148463739-148463919
Coord C2 exon
chr2:148468341-148470461
Length
181 bp
Sequences
Splice sites
3' ss Seq
AAAGGCTGTGCTTTTTCCAGGTA
3' ss Score
8.09
5' ss Seq
CAAGTATGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
AATAGAGATTGTCTTAGTACAACATCAAGGTTCAAGACAAATGTTGAACTAAAAACTTTACACTCCCCACCCCCACTTCAGACAGGTACCAGCATTGGTGAATTATGATTTTCCTTAGTCAGAAGCACTCATTTTTACCCATGTAGACCATCCTTAGGAATTAAATATTGGTTATTTAATGTAGATTATAATGGGAAGCTGATTTTTTTCACAATGGCATATTTCAAGGACTTGGTTCCAAACTGAGCTGAAGCTTCCCAATGCGTTTTGTACAGTCTGGGAAAAACTGTGCTGCACTGGCCCACTTTTGAAGGCCATCATGCTCTGTAATATAAGGATATCATCTTATTGCTGATATCTTTGGAGAGTCCCTAGCAGACACAGAAAATGAATGGAGGCAAAGAGTGTGACGGAGGGGACAAGGAAGGAGGTCTTCCAGCTATACAAGTTCCTGTGGGTTGGCAGCGTCGTGTGGATCAAAATGGAGTGCTTTATGTCAG
Seq A exon
GTATTTAATTTTGATCCTGGAGCTGCTGTGAAACAGAGAACCGCAGAAGATGTTAAGGCAGATGAAGATGTCACAAAGCTATGCATACATAAAAGAAAAATTATTGCAGTGGCCACACTTCATAAAAGCATGGAAGCCCCACATCCTTCTCTGGTGCTCACCAGTCCCGGAGGAGGAACAA
Seq C2 exon
ATGCAACTCCAGTAGTACCTTCTCGGGCAGCAACTCCAAGATCAGTAAGAAATAAGTCTCATGAAGGAATTACAAATTCTGTAATGCCTGAATGTAAGAATCCTTTCAAGTTAATGATTGGATCATCAAATGCCATGGGAAGGCTATATGTACAAGAACTGCCTGGAAGCCAACAACAAGAACTCCACCCTGTCTACCCCCGACAGAGATTGGGCAGCAGTGAACATGGACAGAAATCTCCATTCCGTGGCAGCCATGGAGGCCTGCCCAGCCCAGCGTCATCAGGTTCCCAGATATATGGAGATGGTTCAATCTCTCCAAGGACTGACCCACTTGGAAGTCCTGATGTTTTCACAAGAAGTAATCCTGGTTTTCATGGAGCTCCCAATTCTAGTCCTATTCACCTGAATAGGACTCCTCTTTCTCCACCTTCAGTAATGCTACATGGTTCTCCTGTACAGTCATCCTGTGCAATGGCTGGAAGGACTAATATACCTCTT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406_MULTIEX3-3/3=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.247 A=0.328 C2=0.876
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGGAAAAACTGTGCTGCACT
R:
TGCCCGAGAAGGTACTACTGG
Band lengths:
252-433
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