HsaEX0017492 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:2951114-2955768:-
Coord C1 exon
chr8:2955589-2955768
Coord A exon
chr8:2954224-2954268
Coord C2 exon
chr8:2951114-2951275
Length
45 bp
Sequences
Splice sites
3' ss Seq
ATTTGTCTTTTTACTTGTAGGTA
3' ss Score
10.42
5' ss Seq
CAGGTTTGT
5' ss Score
7.44
Exon sequences
Seq C1 exon
CTCATGCCTGCAGACAGCCAGAAACCCCGGCACACGCGGATGTGAGAGCCATCGATCTTCCTACTTTCGGCTACACCTTAGTGTACACCTGCCATCCAGGCTTTTTCCTCGCAGGGGGATCTGAGCACAGAACATGTAAAGCAGACATGAAATGGACAGGAAAGTCGCCTGTGTGTAAAA
Seq A exon
GTAAAGGAGTGAGAGAAGTTAATGAAACAGTTACTAAAACTCCAG
Seq C2 exon
TTCCTTCAGATGTCTTTTTCGTCAATTCACTGTGGAAGGGGTATTATGAATATTTAGGGAAAAGACAACCCGCCACTCTAACTGTTGACTGGTTCAATGCAACAAGCAGTAAGGTGAATGCCACCTTCAGCGAAGCCTCGCCAGTGGAGCTGAAGTTGACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'129-149,'129-148,130-149
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.062 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=91.8)
A:
NO
C2:
NO
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGAAAGTCGCCTGTGTGTA
R:
TGGCATTCACCTTACTGCTTGT
Band lengths:
147-192
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development