HsaEX0012287 @ hg19
Exon Skipping
Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200811122-200816420:+
Coord C1 exon
chr1:200811122-200811215
Coord A exon
chr1:200813910-200813997
Coord C2 exon
chr1:200816338-200816420
Length
88 bp
Sequences
Splice sites
3' ss Seq
TTAAAAATCTTTTATTCCAGCTG
3' ss Score
7.37
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
AGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAG
Seq A exon
CTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAG
Seq C2 exon
TGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'7-11,'7-8,8-11
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.064 A=0.225 C2=0.669
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(25.4=46.9)
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTATTTGGTGTTCATGGCGGA
R:
GCTGAAGAATGAGCCTGGGGA
Band lengths:
167-255
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)