HsaEX0012275 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135881633-135883078:-
Coord C1 exon
chr9:135882816-135883078
Coord A exon
chr9:135882215-135882376
Coord C2 exon
chr9:135881633-135881794
Length
162 bp
Sequences
Splice sites
3' ss Seq
TACTGGTGTGCCTTTTCCAGAGC
3' ss Score
7.85
5' ss Seq
CAGGTAGAG
5' ss Score
7.1
Exon sequences
Seq C1 exon
ATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAAATG
Seq A exon
AGCGTTCTGGGTCAGGGCCATTCTCGGTGCCTCCTGCACTGCCTTTGTTTGGTTGCTCCCATGGCGTTCCCGGTGAGACTGCGGGTGCCGTGCGGTGGTTGAAGAGAGTGTCATTCCTGTCGAATGAGGAAGCTGCACTAAGGCGTGGTGCAGCTGTAGCAG
Seq C2 exon
AGTGCCCACATGGCAATGGTGGATGCCCTGATGATGGCCTACACTGTGGAGATGATCAGCATCGAGAAGGTGGTGGCCAGTGTCAAGCGCTTCTCAACGTTCAGTGCCTCGAAAGAACTTCCGTACGACCTCGAGGATGCCATGGTGTTCTGGATCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559-'25-9,'25-8,26-9
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.031 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0030726=CH=PU(6.2=16.7)
Main Inclusion Isoform:
ENST00000409386fB1308
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTGCAGCCTCATCCTGAAAGG
R:
AACGTTGAGAAGCGCTTGACA
Band lengths:
252-414
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