HsaEX0017505 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33825697-33918301:-
Coord C1 exon
chr1:33918094-33918301
Coord A exon
chr1:33846884-33846996
Coord C2 exon
chr1:33825697-33825774
Length
113 bp
Sequences
Splice sites
3' ss Seq
TCTGCTTCCTGTTCCCACAGGTT
3' ss Score
12.65
5' ss Seq
AAGGTAGGC
5' ss Score
10.08
Exon sequences
Seq C1 exon
CTGATGATGCCTGTGGTGGGACCCTGCGGGGCCAGAGTGGCATCATCTCCAGCCCCCACTTCCCCTCGGAGTACCATAACAATGCCGACTGCACATGGACCATCCTGGCTGAGCTGGGGGACACCATCGCCCTGGTGTTTATTGACTTCCAGCTGGAGGATGGTTACGACTTTCTGGAAGTCACTGGGACAGAAGGCTCCTCCCTCTG
Seq A exon
GTTCACCGGAGCCAGCCTCCCAGCCCCCGTTATCAGCAGCAAGAACTGGCTGCGACTGCACTTCACATCGGATGGCAACCACCGGCAGCGCGGATTCAGTGCCCAATACCAAG
Seq C2 exon
TCAAGAAGCAAATTGAGTTGAAGTCTCGAGGTGTGAAGCTGATGCCCAGCAAAGACAACAGCCAGAAGACGTCTGTGT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'9-20,'9-18,10-20
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.033 A=0.059 C2=0.314
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(63.7=92.9)
A:
PF0043115=CUB=PD(35.3=92.3)
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGAGTGGCATCATCTCCAGC
R:
TCTGGCTGTTGTCTTTGCTGG
Band lengths:
242-355
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