HsaEX0017494 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:2965775-2973299:-
Coord C1 exon
chr8:2973117-2973299
Coord A exon
chr8:2966570-2966746
Coord C2 exon
chr8:2965775-2965954
Length
177 bp
Sequences
Splice sites
3' ss Seq
TGTTCTTGTTTGCCTAACAGCCG
3' ss Score
8.73
5' ss Seq
CAAGTTAGT
5' ss Score
4.22
Exon sequences
Seq C1 exon
GAAATAATCCTGGATTCTGTGGTGATCCGGGGACCCCAGCACATGGGTCTCGGCTTGGTGATGACTTTAAGACAAAGAGTCTTCTCCGCTTCTCCTGTGAAATGGGGCACCAGCTGAGGGGCTCCCCTGAACGCACGTGTTTGCTCAATGGGTCATGGTCAGGACTGCAGCCGGTGTGTGAGG
Seq A exon
CCGTGTCCTGTGGCAACCCTGGCACACCCACCAACGGAATGATTGTCAGTAGTGATGGCATTCTGTTCTCCAGCTCGGTCATCTATGCCTGCTGGGAAGGCTACAAGACCTCAGGGCTCATGACACGGCATTGCACAGCCAATGGGACCTGGACAGGCACTGCTCCCGACTGCACAA
Seq C2 exon
TTATAAGTTGTGGGGATCCAGGCACACTAGCAAATGGCATCCAGTTTGGGACCGACTTCACCTTCAACAAGACTGTGAGCTATCAGTGTAACCCAGGCTATGTCATGGAAGCAGTCACATCCGCCACTATTCGCTGTACCAAAGACGGCAGGTGGAATCCGAGCAAACCTGTCTGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'120-139,'120-138,121-139
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.016 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=87.1)
A:
PF0008415=Sushi=WD(100=91.7)
C2:
PF0008415=Sushi=WD(100=91.8)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CGCTTCTCCTGTGAAATGGGG
R:
CACCTGCCGTCTTTGGTACAG
Band lengths:
251-428
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