HsaEX0012290 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200815561-200832341:+
Coord C1 exon
chr1:200815561-200815644
Coord A exon
chr1:200828573-200828605
Coord C2 exon
chr1:200832200-200832341
Length
33 bp
Sequences
Splice sites
3' ss Seq
TCCCGCTGCTTCCTCTGAAGTCT
3' ss Score
4.94
5' ss Seq
CCAGTAAGT
5' ss Score
9.09
Exon sequences
Seq C1 exon
GTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAG
Seq A exon
TCTCCTTCCAAATGGTTTTGGAAACTGGTTCCA
Seq C2 exon
GCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.268 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=FE(17.1=100)
A:
PF0030726=CH=FE(6.3=100)
C2:
PF0030726=CH=FE(29.7=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGTTGAAGCTCCAGGAGGT
R:
AGCCATCTGTCCCATCCTTCA
Band lengths:
115-148
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development