HsaEX1023064 @ hg38
Exon Skipping
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148483110-148485950:+
Coord C1 exon
chr2:148483110-148483436
Coord A exon
chr2:148483815-148484135
Coord C2 exon
chr2:148485742-148485950
Length
321 bp
Sequences
Splice sites
3' ss Seq
TAACCCCCTGTTCCTCCCAGCTG
3' ss Score
6.72
5' ss Seq
TTGGTAAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
GCGGTTCAGGACCATCATCCTCCATAGCCATAGCGGGCACCAACCACCCTGCCATCACAAAGACAACATCTGTTCTTCAAGATGGCGTCATAGTCACCACTGCAGCTGGAAACCCACTGCAGAGTCAGCTACCCATTGGGAGTGATTTTCCTTTTGTTGGCCAGGAGCACGCACTTCATTTTCCATCCAACAGCACTTCAAACAACCATCTTCCACACCCCTTGAACCCCAGCCTCCTCAGTTCTCTACCTATCTCTTTGCCAGTGAATCAACAGCATCTCCTAAACCAGAATCTATTAAATATCCTCCAGCCTTCAGCAGGAGAAG
Seq A exon
CTGTCAATGGGGCCTCAGGATTAATGACCTTGAATCCCCAGCTGTTGGGAGGTGTCCTGAACTCGGCATCGGCCAACACCGCTAATCATCCAGAGGTTTCCATAGCAACCTCCTCCCAGGCAACCACTACCACAACCACTACATCATCAGCAGTGGCAGCACTGACTGTCTCAACACTTGGTGGGACAGCAGTGGTGTCAATGGCAGAAACATTGCTGAATATATCTAATAATGCTGGGAATACACCTGGTCCAGCTAAACTCAACAGTAACTCTGTGGTGCCACAGCTACTTAACCCTCTACTGGGGACAGGTCTACTTG
Seq C2 exon
GTGATATGTCATCAATAAACAATACTTTGAGTAACCATCAACTGACTCATCTACAGTCGCTGTTAAACAACAATCAGATGTTTCCTCCAAATCAGCAACAGCAGCAACTTCTCCAGGGGTACCAGAATCTCCAGGCGTTCCAAGGACAGTCCACAATTCCTTGCCCAGCTAACAATAACCCCATGGCTTGTCTGTTTCAGAACTTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.444 A=0.392 C2=0.566
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000407073fB19600


Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATAGTCACCACTGCAGCTGG
R:
TGCTGCTGTTGCTGATTTGGA
Band lengths:
345-666
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains