HsaEX6079394 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:4419953-4994701:-
Coord C1 exon
chr8:4994332-4994701
Coord A exon
chr8:4637342-4637558
Coord C2 exon
chr8:4419953-4420065
Length
217 bp
Sequences
Splice sites
3' ss Seq
GTGTGTGTTTTCTCTTCCAGGTC
3' ss Score
14.45
5' ss Seq
GAGGTAAGG
5' ss Score
10.28
Exon sequences
Seq C1 exon
CCTTCCTGCCCGGCTCGGCCGGCGCTCGTCCCCGGCCCCGGCCCCGCCAGCCCGGGTCTCCGCGCTCGGAGCAGCTCAGCCCTGCAGTGGCTCGGGACCCGATGCTATGAGAGGGAAGCGAGCCGGGCGCCCAGACCTTCAGGAGGCGTCGGATGCGCGGCGGGTCTTGGGACCGGGCTCTCTCTCCGGCTCGCCTTGCCCTCGGGTGATTATTTGGCTCCGCTCATAGCCCTGCCTTCCTCGGAGGAGCCATCGGTGTCGCGTGCGTGTGGAGTATCTGCAGACATGACTGCGTGGAGGAGATTCCAGTCGCTGCTCCTGCTTCTCGGGCTGCTGGTGCTGTGCGCGAGGCTCCTCACTGCAGCGAAGG
Seq A exon
GTCAGAACTGTGGAGGCTTAGTCCAGGGTCCCAATGGCACTATTGAGAGCCCAGGGTTTCCTCACGGGTATCCGAACTATGCCAACTGCACCTGGATCATCATCACGGGCGAGCGCAATAGGATACAGTTGTCCTTCCATACCTTTGCTCTTGAAGAAGATTTTGATATTTTATCAGTTTACGATGGACAGCCTCAACAAGGGAATTTAAAAGTGAG
Seq C2 exon
ATTATCGGGATTTCAGCTGCCCTCCTCTATAGTGAGTACAGGATCTATCCTCACTCTGTGGTTCACGACAGACTTCGCTGTGAGTGCCCAAGGTTTCAAAGCATTATATGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'0-9,'0-3,4-9
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=0.000
Domain overlap (PFAM):
C1:
NO
A:
PF0043115=CUB=PU(65.1=94.5)
C2:
PF0043115=CUB=PD(34.0=92.3)
Main Skipping Isoform:
NA
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:
GACCCGATGCTATGAGAGGGA
R:
AGGGCAGCTGAAATCCCGATA
Band lengths:
298-515
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains