HsaEX6079450 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:2949299-2951275:-
Coord C1 exon
chr8:2951114-2951275
Coord A exon
chr8:2950231-2950343
Coord C2 exon
chr8:2949299-2949386
Length
113 bp
Sequences
Splice sites
3' ss Seq
AACTGCTGATCTTTTCACAGGCA
3' ss Score
7.79
5' ss Seq
TATGTAAGT
5' ss Score
6.69
Exon sequences
Seq C1 exon
TTCCTTCAGATGTCTTTTTCGTCAATTCACTGTGGAAGGGGTATTATGAATATTTAGGGAAAAGACAACCCGCCACTCTAACTGTTGACTGGTTCAATGCAACAAGCAGTAAGGTGAATGCCACCTTCAGCGAAGCCTCGCCAGTGGAGCTGAAGTTGACAG
Seq A exon
GCATTTACAAGAAGGAGGAGGCCCACTTACTCCTGAAAGCTTTTCAAATTAAAGGCCAGGCAGATATTTTTGTAAGCAAGTTCGAAAATGACAACTGGGGACTAGATGGTTAT
Seq C2 exon
GTGTCATCTGGACTTGAAAGAGGAGGATTTACTTTTCAAGGTGACATTCATGGAAAAGACTTTGGAAAATTTAAGCTAGAAAGGCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'131-151,'131-150,132-151
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.067
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
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:
TCCTTCAGATGTCTTTTTCGTCA
R:
TGCCTTTCTAGCTTAAATTTTCCA
Band lengths:
247-360
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains