HsaEX0017499 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33918094-34032706:-
Coord C1 exon
chr1:34032594-34032706
Coord A exon
chr1:33935760-33935954
Coord C2 exon
chr1:33918094-33918301
Length
195 bp
Sequences
Splice sites
3' ss Seq
TTCTCTGTTTCTCCTCACAGTTC
3' ss Score
11.54
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
Exon sequences
Seq C1 exon
GCTCACAGGCTTTCAGCTGCCAGCCACCATTGTTAGTGCAGCCACCACCCTCTCTCTGCGCCTCATCAGCGACTATGCAGTCAGTGCCCAAGGCTTCCACGCCACCTATGAAG
Seq A exon
TTCTCCCCAGCCACACATGTGGGAACCCAGGGAGGCTGCCCAATGGCATCCAGCAGGGTTCAACCTTCAACCTCGGTGACAAGGTCCGCTACAGCTGCAACCTTGGCTTCTTCCTGGAGGGCCACGCCGTGCTCACCTGCCACGCTGGCTCTGAGAACAGCGCCACGTGGGACTTCCCCCTGCCTTCCTGCAGAG
Seq C2 exon
CTGATGATGCCTGTGGTGGGACCCTGCGGGGCCAGAGTGGCATCATCTCCAGCCCCCACTTCCCCTCGGAGTACCATAACAATGCCGACTGCACATGGACCATCCTGGCTGAGCTGGGGGACACCATCGCCCTGGTGTTTATTGACTTCCAGCTGGAGGATGGTTACGACTTTCTGGAAGTCACTGGGACAGAAGGCTCCTCCCTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904_CASSETTE8
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.027 A=0.064 C2=0.033
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(34.0=92.3)
A:
PF0008415=Sushi=WD(100=87.9)
C2:
PF0043115=CUB=PU(63.7=92.9)
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:
GCCTCATCAGCGACTATGCAG
R:
AGCCTTCTGTCCCAGTGACTT
Band lengths:
252-447
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