HsaEX0017513 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33792423-33819837:-
Coord C1 exon
chr1:33819713-33819837
Coord A exon
chr1:33810743-33810864
Coord C2 exon
chr1:33792423-33792526
Length
122 bp
Sequences
Splice sites
3' ss Seq
GTCTTTCATCTCCTCTGCAGCCC
3' ss Score
9.51
5' ss Seq
AAGGTAAGC
5' ss Score
10.22
Exon sequences
Seq C1 exon
GTTAGGATCCAGCGTCCAGTTCACCTGCAACGAGGGCTATGACCTGCAAGGGTCCAAGCGGATCACCTGTATGAAAGTGAGCGACATGTTTGCGGCCTGGAGCGACCACAGGCCAGTCTGCCGAG
Seq A exon
CCCGCATGTGTGATGCCCACCTTCGAGGCCCCTCGGGCATCATCACCTCCCCCAATTTCCCCATTCAGTATGACAACAATGCACACTGTGTGTGGATCATCACAGCACTCAACCCCTCCAAG
Seq C2 exon
GTGATCAAGCTCGCCTTTGAGGAGTTTGATTTGGAGAGGGGCTATGACACCCTGACGGTCGGTGATGGTGGTCAGGATGGGGACCAGAAGACAGTTCTCTACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'13-36,'13-32,18-36
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=0.086
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(69.0=93.0)
A:
PF0043115=CUB=PU(33.9=90.2)
C2:
PF0043115=CUB=FE(31.2=100)
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:
GTTAGGATCCAGCGTCCAGTT
R:
TAGAGAACTGTCTTCTGGTCCCC
Band lengths:
226-348
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