HsaEX6029860 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33652323-33663092:-
Coord C1 exon
chr1:33662890-33663092
Coord A exon
chr1:33657946-33658137
Coord C2 exon
chr1:33652323-33652461
Length
192 bp
Sequences
Splice sites
3' ss Seq
CTTCTATTTCCTTGCCCCAGTGT
3' ss Score
7.85
5' ss Seq
TCGGTACAA
5' ss Score
2.47
Exon sequences
Seq C1 exon
GCTACACTTCCTGGTGTTTGACACAGAGGAGGTTCACGACGTGCTGCGCATCTGGGATGGGCCTGTGGAGAGCGGGGTTCTGCTGAAGGAGCTGAGTGGCCCGGCCCTGCCCAAGGACCTGCATAGCACCTTCAACTCGGTCGTCCTGCAGTTCAGCACTGACTTCTTCACCAGCAAGCAGGGCTTTGCCATTCAATTTTCAG
Seq A exon
TGTCCACAGCAACGTCCTGCAATGACCCTGGGATCCCGCAGAATGGGAGTCGGAGTGGTGACAGTTGGGAAGCCGGCGACTCCACAGTGTTCCAGTGTGACCCTGGCTACGCGCTGCAGGGAAGTGCAGAGATCAGCTGTGTGAAGATCGAGAACAGGTTCTTCTGGCAGCCCAGCCCGCCAACATGCATCG
Seq C2 exon
CTCCCTGCGGGGGAGACCTGACAGGACCATCTGGAGTCATCCTCTCACCAAATTACCCAGAACCCTACCCGCCAGGCAAGGAGTGTGACTGGAAAGTGACCGTCTCACCAGACTACGTCATCGCCCTGGTATTTAACAT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'48-67,'48-66,51-67
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.169 C2=0.021
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(61.7=95.7)
A:
PF0008415=Sushi=WD(100=87.7)
C2:
PF0043115=CUB=PU(41.5=93.6)
Main Skipping Isoform:
ENST00000373381fB13123
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGACACAGAGGAGGTTCACGA
R:
GCGGGTAGGGTTCTGGGTAAT
Band lengths:
257-449
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains