Special

HsaEX0012286 @ hg19

Exon Skipping

Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200776504-200801469:+
Coord C1 exon
chr1:200776504-200776665
Coord A exon
chr1:200784689-200784772
Coord C2 exon
chr1:200801328-200801469
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
GCTCGTTATCGGAAAGAGCAAACATTGCTTAAGCAACTGCCTTGCATTCCATTGGTAGAAAATTTGTTGAAGGATGGGACAGATGGCTGTGCATTAGCTGCCCTTATTCATTTTTACTGTCCTGATGTTGTCAGATTAGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'2-4,'2-2,3-4
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.238 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(29.7=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTGCGTGTGCTCAGCAGTATT
R:
AGCCATCTGTCCCATCCTTCA
Band lengths:
177-261
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