HsaEX6063957 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135815890-135818616:-
Coord C1 exon
chr9:135818408-135818616
Coord A exon
chr9:135817977-135818079
Coord C2 exon
chr9:135815890-135816005
Length
103 bp
Sequences
Splice sites
3' ss Seq
TCTGTTTCTGTCTCTGGCAGCTG
3' ss Score
10.96
5' ss Seq
GCGGTAAGG
5' ss Score
9.63
Exon sequences
Seq C1 exon
GCGCAAAGCTGAGGAAGACCGGGTGCGGAAGGAGGAGGAGAAGGCGCGGCGCGAGCTCATCAAGCAGGAGTACCTGCGGAGGAAGCAGCAGCAGATCCTAGAGGAGCAGGGGCTCGGCAAGCCCAAGTCAAAGCCGAAGAAGCCGCGGCCGAAGTCGGTGCACCGGGAAGAGTCGTGCAGCGACTCCGGCACCAAGTGCTCCTCCACCC
Seq A exon
CTGATAACTTGAGCCGGACTCAGTCAGGCTCCAGCCTGTCCTTGGCCTCTGCGGCGACGACAGAACCCGAGAGCGTTCATTCCGGGGGCACACCCTCTCAGCG
Seq C2 exon
AGTGGAATCGATGGAAGCCCTGCCCATACTGAGCCGTAACCCAAGCAGGAGCACAGACCGAGACTGGGAGACCGCGTCGGCGGCATCTTCCCTGGCCTCAGTGGCCGAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-'67-59,'67-56,69-59
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.915 A=1.000 C2=0.675
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TGCGGAAGGAGGAGGAGAAG
R:
CTGTGCTCCTGCTTGGGTTAC
Band lengths:
242-345
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains