HsaEX0012286 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200807376-200828605:+
Coord C1 exon
chr1:200807376-200807537
Coord A exon
chr1:200815561-200815644
Coord C2 exon
chr1:200828573-200828605
Length
84 bp
Sequences
Splice sites
3' ss Seq
TGATATTTTTATATTTTAAGGTA
3' ss Score
8.31
5' ss Seq
AAGGTATTT
5' ss Score
7.64
Exon sequences
Seq C1 exon
AGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAG
Seq A exon
GTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAG
Seq C2 exon
TCTCCTTCCAAATGGTTTTGGAAACTGGTTCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'12-11,'12-10,13-11
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.268 C2=0.000
Domain overlap (PFAM):
C1:
PF0030726=CH=PU(5.7=16.7)
A:
PF0030726=CH=FE(17.1=100)
C2:
PF0030726=CH=FE(6.3=100)
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:
TGGCCATGATCGATACCCTCA
R:
GAACCAGTTTCCAAAACCATTTG
Band lengths:
183-267
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