HsaEX0012288 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200844782-200847709:+
Coord C1 exon
chr1:200844782-200844869
Coord A exon
chr1:200847210-200847292
Coord C2 exon
chr1:200847640-200847709
Length
83 bp
Sequences
Splice sites
3' ss Seq
AAATTTATTTTCCATTGCAGTGG
3' ss Score
7.68
5' ss Seq
CAGGTAATA
5' ss Score
8.55
Exon sequences
Seq C1 exon
CTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAG
Seq A exon
TGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAG
Seq C2 exon
GAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'22-30,'22-28,26-30
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.070 A=0.832 C2=0.142
Domain overlap (PFAM):
C1:
PF116003=CAF-1_p150=PU(9.6=53.3)
A:
PF116003=CAF-1_p150=FE(16.3=100)
C2:
NO
Main Skipping Isoform:
ENST00000413307fB11273
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGAACCTGTAAAAGATATGCCTTCA
R:
TTCTCTTTGGGCCATGTCCCT
Band lengths:
154-237
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