HsaEX6079398 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3616710-3754042:-
Coord C1 exon
chr8:3753930-3754042
Coord A exon
chr8:3708414-3708491
Coord C2 exon
chr8:3616710-3616797
Length
78 bp
Sequences
Splice sites
3' ss Seq
CTTGGTTTTGTTTCTTCCAGTGA
3' ss Score
8.77
5' ss Seq
TCTGTGAGT
5' ss Score
7
Exon sequences
Seq C1 exon
GCTAACTGGCATGAACCTCCCCTCTCCAGTTATCAGTAGCAAGAATTGGCTACGACTCCATTTCACCTCTGACAGCAACCACCGACGCAAAGGATTTAACGCTCAGTTCCAAG
Seq A exon
TGAAAAAGGCGATTGAGTTGAAGTCAAGAGGAGTCAAGATGCTGCCCAGCAAGGATGGAAGCCATAAAAACTCTGTCT
Seq C2 exon
TGAGCCAAGGAGGTGTTGCATTGGTCTCTGACATGTGTCCAGATCCTGGGATTCCAGAAAATGGTAGAAGAGCAGGTTCCGACTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'12-44,'12-40,23-44=AN
Average complexity
A_C3
Mappability confidence:
81%=93=71%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.148 C2=0.359
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(35.3=92.3)
A:
NO
C2:
PF0008415=Sushi=PU(28.8=56.7)
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:
GAGTCCAGATCACACCACTGC
R:
TCGGAACCTGCTCTTCTACCA
Band lengths:
174-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains