Special

HsaEX0012288 @ hg19

Exon Skipping

Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200813910-200816837:+
Coord C1 exon
chr1:200813910-200813997
Coord A exon
chr1:200816338-200816420
Coord C2 exon
chr1:200816768-200816837
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-'8-13,'8-11,10-13
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.225 A=0.669 C2=0.167
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
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