HsaEX0017490 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3708414-3998110:-
Coord C1 exon
chr8:3997903-3998110
Coord A exon
chr8:3753930-3754042
Coord C2 exon
chr8:3708414-3708491
Length
113 bp
Sequences
Splice sites
3' ss Seq
TTCCTCTTTCTCTTCTCTAGGCT
3' ss Score
12.13
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
Exon sequences
Seq C1 exon
CTGAGGGAGCCTGCGGAGGAACCTTACGCGGGACCAGCAGCTCCATCTCCAGCCCGCACTTCCCTTCAGAGTACGAGAACAACGCGGACTGCACCTGGACCATTCTGGCTGAGCCCGGGGACACCATTGCGCTGGTCTTCACTGACTTTCAGCTAGAAGAAGGATATGATTTCTTAGAGATCAGTGGCACGGAAGCTCCATCCATATG
Seq A exon
GCTAACTGGCATGAACCTCCCCTCTCCAGTTATCAGTAGCAAGAATTGGCTACGACTCCATTTCACCTCTGACAGCAACCACCGACGCAAAGGATTTAACGCTCAGTTCCAAG
Seq C2 exon
TGAAAAAGGCGATTGAGTTGAAGTCAAGAGGAGTCAAGATGCTGCCCAGCAAGGATGGAAGCCATAAAAACTCTGTCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'16-40,'16-35,22-40
Average complexity
C3
Mappability confidence:
94%=89=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.014 A=0.000 C2=0.148
Domain overlap (PFAM):
C1:
PF0043115=CUB=PU(63.7=92.9)
A:
PF0043115=CUB=PD(35.3=92.3)
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GACCAGCAGCTCCATCTCCAG
R:
TATGGCTTCCATCCTTGCTGG
Band lengths:
243-356
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development