HsaEX6081986 @ hg38
Exon Skipping
Gene
ENSG00000164796 | CSMD3
Description
CUB and Sushi multiple domains 3 [Source:HGNC Symbol;Acc:HGNC:19291]
Coordinates
chr8:112550671-112556954:-
Coord C1 exon
chr8:112556763-112556954
Coord A exon
chr8:112552594-112552720
Coord C2 exon
chr8:112550671-112550873
Length
127 bp
Sequences
Splice sites
3' ss Seq
TTTCTATTATTTTTTATCAGCTG
3' ss Score
7.64
5' ss Seq
CAGGTAAAT
5' ss Score
8.76
Exon sequences
Seq C1 exon
GTTTTGAACTCTCACACTGTGAAGATCCTGGCATTCCACAATTTGGATACAAGATCAGTGACCAAGGCCACTTTGCTGGTAGCACCATCATTTATGGATGCAATCCAGGCTACACTCTCCACGGAAGTAGCCTTCTCAAGTGCATGACAGGGGAGAGAAGGGCATGGGACTATCCTCTGCCTTCCTGTATTG
Seq A exon
CTGAATGTGGAGGTCGTTTTAAAGGAGAATCATCAGGAAGAATCTTATCTCCTGGCTATCCTTTTCCATATGACAATAACCTGCGTTGCATGTGGATGATTGAGGTAGATCCTGGAAATATTGTCAG
Seq C2 exon
CTTGCAGTTTCTTGCTTTTGATACGGAAGCATCACATGATATACTCCGAGTCTGGGACGGTCCACCAGAAAATGATATGCTTTTAAAGGAAATTAGTGGATCTCTTATTCCTGAAGGAATTCATAGCACCCTCAATATAGTAACCATCCAGTTTGACACGGATTTTTATATTAGCAAATCTGGATTTGCAATTCAGTTTTCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164796-'49-55,'49-54,50-55=AN
Average complexity
A_S
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:
PF0008415=Sushi=WD(100=87.7)
A:
PF0043115=CUB=PU(37.4=93.0)
C2:
PF0043115=CUB=PD(61.7=95.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACACTGTGAAGATCCTGGCA
R:
CATTTTCTGGTGGACCGTCCC
Band lengths:
254-381
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains