HsaEX0012289 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200760839-200815644:+
Coord C1 exon
chr1:200760839-200761098
Coord A exon
chr1:200807376-200807537
Coord C2 exon
chr1:200815561-200815644
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTTTTATATTTTCAGAGT
3' ss Score
9.09
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
AAAATGTGCCAGAGGAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTAATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGCAAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACTGACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATG
Seq A exon
AGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAG
Seq C2 exon
GTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.034 A=0.000 C2=0.268
Domain overlap (PFAM):
C1:
NO
A:
PF0030726=CH=PU(5.7=16.7)
C2:
PF0030726=CH=FE(17.1=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCTGAACTATACTGTCGTGC
R:
ACCTCCTGGAGCTTCAACTGT
Band lengths:
248-410
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development