HsaEX7000160 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:34032594-34165842:-
Coord C1 exon
chr1:34165747-34165842
Coord A exon
chr1:34088977-34089193
Coord C2 exon
chr1:34032594-34032706
Length
217 bp
Sequences
Splice sites
3' ss Seq
GCTCCATTTCTCTTTCCCAGGCC
3' ss Score
9.83
5' ss Seq
GAGGTACCA
5' ss Score
6.43
Exon sequences
Seq C1 exon
TCCTGGGATGGGGTAGGAGGCTATTGTGAATGAGGCTCATAAGCATCGCCCCCGGCCCTAGATGGCAAGTTCAAAGCCACCACCCAAGATCAGCTG
Seq A exon
GCCAGAACTGCACGTTCCAACTGCACGGTCCCAATGGGACAGTTGAGAGCCCAGGGTTCCCATATGGCTACCCCAATTACGCCAACTGCACGTGGACCATCACCGCGGAAGAGCAGCACAGAATCCAGCTTGTGTTCCAGTCCTTTGCCCTGGAAGAGGACTTTGATGTCCTGTCGGTGTTTGATGGTCCACCCCAGCCAGAGAATCTGCGTACGAG
Seq C2 exon
GCTCACAGGCTTTCAGCTGCCAGCCACCATTGTTAGTGCAGCCACCACCCTCTCTCTGCGCCTCATCAGCGACTATGCAGTCAGTGCCCAAGGCTTCCACGCCACCTATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'0-5,'0-3,5-5=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.304 A=0.071 C2=0.027
Domain overlap (PFAM):
C1:
NO
A:
PF0043115=CUB=PU(65.1=94.5)
C2:
PF0043115=CUB=PD(34.0=92.3)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGATGGGGTAGGAGGCTATT
R:
CTTCATAGGTGGCGTGGAAGC
Band lengths:
205-422
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains