HsaEX6079397 @ hg38
Exon Skipping
Gene
ENSG00000183117 | CSMD1
Description
CUB and Sushi multiple domains 1 [Source:HGNC Symbol;Acc:HGNC:14026]
Coordinates
chr8:3753930-4032099:-
Coord C1 exon
chr8:4031905-4032099
Coord A exon
chr8:3997903-3998110
Coord C2 exon
chr8:3753930-3754042
Length
208 bp
Sequences
Splice sites
3' ss Seq
TTCTGCTTTTGCCCCTGCAGCTG
3' ss Score
11.32
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
TTTTACCTAGCCACACTTGTGGAAATCCTGGAGAAATCCTGAAAGGAGTTCTGCATGGAACGAGATTCAACATAGGAGACAAAATCCGGTACAGCTGCCTCCCTGGCTACATCTTGGAAGGCCACGCCATCCTGACCTGCATCGTCAGCCCAGGAAATGGTGCATCGTGGGACTTCCCAGCTCCCTTTTGCAGAG
Seq A exon
CTGAGGGAGCCTGCGGAGGAACCTTACGCGGGACCAGCAGCTCCATCTCCAGCCCGCACTTCCCTTCAGAGTACGAGAACAACGCGGACTGCACCTGGACCATTCTGGCTGAGCCCGGGGACACCATTGCGCTGGTCTTCACTGACTTTCAGCTAGAAGAAGGATATGATTTCTTAGAGATCAGTGGCACGGAAGCTCCATCCATATG
Seq C2 exon
GCTAACTGGCATGAACCTCCCCTCTCCAGTTATCAGTAGCAAGAATTGGCTACGACTCCATTTCACCTCTGACAGCAACCACCGACGCAAAGGATTTAACGCTCAGTTCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000183117-'6-35,'6-25,16-35=AN
Average complexity
A_C3
Mappability confidence:
92%=92=92%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.014 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=WD(100=87.9)
A:
PF0043115=CUB=PU(63.7=92.9)
C2:
PF0043115=CUB=PD(35.3=92.3)
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:
GTGGGTAGAAATGAGTAGAAAATGGG
R:
CTTGGAACTGAGCGTTAAATCCT
Band lengths:
212-420
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains