HsaEX0038088 @ hg38
Exon Skipping
Gene
ENSG00000204406 | MBD5
Description
methyl-CpG binding domain protein 5 [Source:HGNC Symbol;Acc:HGNC:20444]
Coordinates
chr2:148502436-148510135:+
Coord C1 exon
chr2:148502436-148502509
Coord A exon
chr2:148505761-148505830
Coord C2 exon
chr2:148510060-148510135
Length
70 bp
Sequences
Splice sites
3' ss Seq
AGATTTGACTACTTTTGTAGACT
3' ss Score
3.54
5' ss Seq
GAGGTTGGT
5' ss Score
6.36
Exon sequences
Seq C1 exon
GTGGAGCCCGAGAAGTTGAAGACACTAACAGAAGGTTTGGAAGCCTACAGCCGTGTCCGGAAAAGGAACAGAAA
Seq A exon
ACTGAGGGGAAGAAGAAAAGAGGAAAAGGCTGAAAAAGGAAGGTGTCATTTGGAGCAAGATAATTAAGAG
Seq C2 exon
AAGTGGAAAGCTAAATAACCATTTAGAAGCTGCTATTCATGAGGCCATGAGTGAACTGGACAAAATGTCTGGGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000204406_MULTIEX1-2/4=C1-3
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.901 A=1.000 C2=0.938
Domain overlap (PFAM):
C1:
PF0085512=PWWP=FE(29.3=100)
A:
PF0085512=PWWP=PD(15.8=52.2)
C2:
PF0085512=PWWP=PD(22.0=69.2)
Main Inclusion Isoform:
ENST00000407073fB4144
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGGAGCCCGAGAAGTTGAAG
R:
GACATTTTGTCCAGTTCACTCATGG
Band lengths:
143-213
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development