HsaEX0017511 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33743280-33825774:-
Coord C1 exon
chr1:33825697-33825774
Coord A exon
chr1:33819713-33819837
Coord C2 exon
chr1:33743280-33743606
Length
125 bp
Sequences
Splice sites
3' ss Seq
AGACACACTTTGTCTCCCAGGTT
3' ss Score
5.79
5' ss Seq
GAGGTGAGG
5' ss Score
8.41
Exon sequences
Seq C1 exon
TCAAGAAGCAAATTGAGTTGAAGTCTCGAGGTGTGAAGCTGATGCCCAGCAAAGACAACAGCCAGAAGACGTCTGTGT
Seq A exon
GTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAAGCGGATCACCTGTATGAAAGTGAGCGACATGTTTGCGGCCTGGAGCGACCACAGGCCAGTCTGCCGAG
Seq C2 exon
TCTCCTGCTTCTTCAACTTCACCAGCCCGTCTGGGGTTGTCCTGTCTCCCAACTACCCAGAGGACTATGGCAACCACCTCCACTGTGTCTGGCTCATCCTGGCCAGGCCTGAGAGCCGCATCCACCTGGCCTTCAACGACATTGACGTGGAGCCTCAGTTTGATTTCCTGGTCATCAAGGATGGGGCCACCGCCGAGGCGCCCGTCCTGGGCACCTTCTCAGGAAACCAGCTTCCCTCCTCCATCACAAGCAGTGGCCACGTGGCCCGTCTCGAGTTCCAGACTGACCACTCCACAGGGAAGAGGGGCTTCAACATCACTTTTACCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904_MULTIEX1-2/8=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.314 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0008415=Sushi=PD(69.0=93.0)
C2:
PF0043115=CUB=WD(100=96.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGTCTCGAGGTGTGAAGCTGA
R:
CCCCATCCTTGATGACCAGGA
Band lengths:
243-368
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