HsaEX6029875 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33586504-33601010:-
Coord C1 exon
chr1:33600865-33601010
Coord A exon
chr1:33587088-33587168
Coord C2 exon
chr1:33586504-33586617
Length
81 bp
Sequences
Splice sites
3' ss Seq
GCCTGCTTTTATCTTTTCAGCTT
3' ss Score
10.22
5' ss Seq
TAGGTACCA
5' ss Score
3.96
Exon sequences
Seq C1 exon
GGATGGGCCACAGCAAACAGCACCACGGCTCGGCGTCTTCACCCGGAGCATGGCCAAGAAAACAGTGCAGAGTTCATCCAACCAGGTCCTGCTCAAGTTCCACCGTGATGCAGCCACAGGGGGGATCTTCGCCATAGCTTTCTCCG
Seq A exon
CTTATCCACTCACCAAATGCCCTCCTCCCACCATCCTCCCCAACGCCGAAGTCGTCACAGAGAATGAAGAATTCAATATAG
Seq C2 exon
GTGACATCGTACGCTACAGATGCCTCCCTGGCTTTACCTTAGTGGGGAATGAAATTCTGACCTGCAAACTTGGAACCTACCTGCAGTTTGAAGGACCACCCCCGATATGTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'78-106,'78-105,84-106=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.020 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0043115=CUB=PD(44.8=94.0)
A:
PF0008415=Sushi=PU(36.2=75.0)
C2:
PF0008415=Sushi=PD(62.1=92.3)
Main Skipping Isoform:
ENST00000373381fB13125
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAGGTCCTGCTCAAGTTCCAC
R:
TATCGGGGGTGGTCCTTCAAA
Band lengths:
171-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains