HsaEX6029877 @ hg38
Exon Skipping
Gene
ENSG00000121904 | CSMD2
Description
CUB and Sushi multiple domains 2 [Source:HGNC Symbol;Acc:HGNC:19290]
Coordinates
chr1:33580753-33586617:-
Coord C1 exon
chr1:33586504-33586617
Coord A exon
chr1:33583642-33583830
Coord C2 exon
chr1:33580753-33580899
Length
189 bp
Sequences
Splice sites
3' ss Seq
TTTCTCTTTCTTTCTCCAAGTGC
3' ss Score
7.47
5' ss Seq
ATGGTAAGT
5' ss Score
11.01
Exon sequences
Seq C1 exon
GTGACATCGTACGCTACAGATGCCTCCCTGGCTTTACCTTAGTGGGGAATGAAATTCTGACCTGCAAACTTGGAACCTACCTGCAGTTTGAAGGACCACCCCCGATATGTGAAG
Seq A exon
TGCACTGTCCAACAAATGAGCTTCTGACAGACTCCACAGGCGTGATCCTGAGCCAGAGCTACCCTGGAAGCTATCCCCAGTTCCAGACCTGCTCTTGGCTGGTGAGAGTGGAGCCCGACTATAACATCTCCCTCACAGTGGAGTACTTCCTCAGCGAGAAGCAATATGATGAGTTTGAGATTTTTGATG
Seq C2 exon
GTCCATCAGGACAGAGTCCTCTGCTGAAAGCCCTCAGTGGGAATTACTCAGCTCCCCTGATTGTCACCAGCTCAAGCAACTCTGTGTACCTGCGTTGGTCATCTGATCACGCCTACAATCGGAAGGGCTTCAAGATCCGCTATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000121904-'85-108,'85-107,86-108=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0008415=Sushi=PD(62.1=92.3)
A:
PF0043115=CUB=PU(56.0=95.3)
C2:
PF0043115=CUB=PD(43.1=94.0)
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:
ACATCGTACGCTACAGATGCC
R:
GAAGCCCTTCCGATTGTAGGC
Band lengths:
242-431
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains