HsaEX6029857 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33700517-33714775:-
Coord C1 exon
chr1:33714587-33714775
Coord A exon
chr1:33709089-33709258
Coord C2 exon
chr1:33700517-33700673
Length
170 bp
Sequences
Splice sites
3' ss Seq
TATTGTGATTCTCTTTCCAGCTG
3' ss Score
9.64
5' ss Seq
AAGGTAAAA
5' ss Score
8.38
Exon sequences
Seq C1 exon
AGTACGACTTGGAGCCCTGTGAGGAGCCCGAGGTCCCAGCCTACAGCATCCGGAAGGGCTTGCAGTTTGGCGTGGGCGACACCTTGACCTTCTCCTGCTTCCCCGGGTACCGTCTGGAGGGCACCGCCCGCATCACGTGCCTGGGGGGCAGACGGCGCCTGTGGAGCTCGCCTCTGCCAAGGTGTGTTG
Seq A exon
CTGAGTGTGGGAATTCAGTCACAGGCACTCAGGGTACTTTGCTGTCCCCCAACTTTCCTGTGAACTACAATAACAATCATGAATGCATCTACTCCATCCAGACCCAGCCAGGGAAGGGAATTCAGCTGAAAGCCAGGGCATTCGAACTCTCCGAAGGAGATGTCCTCAAG
Seq C2 exon
GTTTATGATGGCAACAACAACTCCGCCCGTTTGCTGGGAGTTTTTAGCCATTCTGAGATGATGGGGGTGACTTTGAACAGCACATCCAGCAGTCTGTGGCTTGATTTCATCACTGATGCTGAAAACACCAGCAAGGGCTTTGAACTGCACTTTTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'42-58,'42-57,43-58
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=87.5)
A:
PF0043115=CUB=PU(50.9=94.7)
C2:
PF0043115=CUB=PD(47.2=94.3)
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:
TACGACTTGGAGCCCTGTGAG
R:
CCCCCATCATCTCAGAATGGC
Band lengths:
254-424
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains