Special

HsaEX0012289 @ hg19

Exon Skipping

Gene
ENSG00000118200 | CAMSAP1L1
Description
calmodulin regulated spectrin-associated protein family, member 2 [Source:HGNC Symbol;Acc:29188]
Coordinates
chr1:200729967-200784772:+
Coord C1 exon
chr1:200729967-200730226
Coord A exon
chr1:200776504-200776665
Coord C2 exon
chr1:200784689-200784772
Length
162 bp
Sequences
Splice sites
3' ss Seq
TTCTTGTTTTATATTTTCAGAGT
3' ss Score
9.09
5' ss Seq
AAGGTAGGA
5' ss Score
9.45
Exon sequences
Seq C1 exon
AAAATGTGCCAGAGGAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTAATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGCAAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACTGACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATG
Seq A exon
AGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAG
Seq C2 exon
GTAAATGAACATTTGAAAGACATAATGGAACAAGAACAAAAACTGAAAGAACATCACACAGTTGAAGCTCCAGGAGGTCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.034 A=0.000 C2=0.238
Domain overlap (PFAM):

C1:
NO
A:
PF0030726=CH=PU(5.7=16.7)
C2:
PF0030726=CH=FE(17.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Primers PCR
Suggestions for RT-PCR validation
F:
CGGCTGAACTATACTGTCGTGC
R:
ACCTCCTGGAGCTTCAACTGT
Band lengths:
248-410
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