HsaEX6029891 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33533050-33537095:-
Coord C1 exon
chr1:33537022-33537095
Coord A exon
chr1:33533796-33533907
Coord C2 exon
chr1:33533050-33533229
Length
112 bp
Sequences
Splice sites
3' ss Seq
GACTTTGTATCTTGCCGCAGGTT
3' ss Score
9.71
5' ss Seq
TCCGTGAGT
5' ss Score
8.93
Exon sequences
Seq C1 exon
ATCCGACCCTGACCACGTGTGCGGACCCTGGTGTGCCACAGTTTGGGATACAGAACAATTCTCAGGGCTACCAG
Seq A exon
GTTGGAAGCACAGTCCTCTTCCGTTGTCAAAAAGGCTACCTGCTTCAGGGCTCCACCACCAGGACCTGCCTCCCAAACCTGACCTGGAGTGGAACCCCACCTGACTGTGTCC
Seq C2 exon
CCCACCACTGCAGGCAGCCAGAGACGCCAACGCATGCCAACGTCGGGGCCCTGGATTTGCCCTCCATGGGCTACACGCTCATCTACTCCTGCCAGGAGGGCTTCTCCCTCAAGGGTGGCTCCGAGCACCGCACCTGCAAGGCGGATGGCAGCTGGACAGGCAAGCCGCCCATCTGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'105-132,'105-130,107-132=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.040 A=0.026 C2=0.246
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PU(32.7=72.0)
A:
PF0008415=Sushi=PD(63.6=92.1)
C2:
PF0008415=Sushi=WD(100=91.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATCCGACCCTGACCACGTG
R:
CTTGCCTGTCCAGCTGCC
Band lengths:
238-350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains