HsaEX0012276 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135866456-135883078:-
Coord C1 exon
chr9:135882816-135883078
Coord A exon
chr9:135881633-135881794
Coord C2 exon
chr9:135866456-135866536
Length
162 bp
Sequences
Splice sites
3' ss Seq
GCTGCTGCCTCTGCCCCTAGAGT
3' ss Score
9.51
5' ss Seq
AAGGTGAGT
5' ss Score
10.47
Exon sequences
Seq C1 exon
ATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAAATG
Seq A exon
AGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATCAGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTCAGTGCCTCGAAAGAACTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAG
Seq C2 exon
GTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-'25-15,'25-9,27-15
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
Show structural model
Features
Disorder rate (Iupred):
C1=0.031 A=0.000 C2=0.068
Domain overlap (PFAM):
C1:
NO
A:
PF0030726=CH=PU(6.2=16.7)
C2:
PF0030726=CH=FE(17.8=100)
Main Skipping Isoform:
ENST00000409386fB1308
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCTGTACTGCCGTGTCTG
R:
CTTTTGATGAGCTGGACTTTCC
Band lengths:
249-411
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