HsaEX0012274 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135881633-135907224:-
Coord C1 exon
chr9:135907000-135907224
Coord A exon
chr9:135882816-135883078
Coord C2 exon
chr9:135881633-135881794
Length
263 bp
Sequences
Splice sites
3' ss Seq
TCATCCCCTCCCTGTCTTAGATA
3' ss Score
8.85
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
GGCGCGGCGAGGGGCGGCGGCGCCTTTGTTGCGGCCGGGCCGCCGCCTCAGCCCTTTGTCTGCAGATGGTGGACGCGAGCGGCCGCGCCGCCGCCGAGGGCTGGAGGAAGATGGAGGCCCCGCCGGACGGCGCCGCCGACCTCGTGCCCCTGGACCGCTACGACGCGGCGCGCGCCAAGATCGCCGCCAACCTGCAGTGGATCTGCGCCAAGGCCTACGGCCGAG
Seq A exon
ATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAAATG
Seq C2 exon
AGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATCAGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTCAGTGCCTCGAAAGAACTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-'0-9,'0-3,25-9
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.062 A=0.031 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0030726=CH=PU(6.2=16.7)
Main Skipping Isoform:
ENST00000389532fB11265
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
TTTGTCTGCAGATGGTGGACG
R:
ACGGAAGTTCTTTCGAGGCAC
Band lengths:
295-558
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development