HsaEX0012273 @ hg38
Exon Skipping
Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin associated protein 1 [Source:HGNC Symbol;Acc:HGNC:19946]
Coordinates
chr9:135882816-135907224:-
Coord C1 exon
chr9:135907000-135907224
Coord A exon
chr9:135888165-135888273
Coord C2 exon
chr9:135882816-135883078
Length
109 bp
Sequences
Splice sites
3' ss Seq
CCTTTTCATCCTCATTGCAGTAA
3' ss Score
8.03
5' ss Seq
CAGGTAGGG
5' ss Score
9.46
Exon sequences
Seq C1 exon
GGCGCGGCGAGGGGCGGCGGCGCCTTTGTTGCGGCCGGGCCGCCGCCTCAGCCCTTTGTCTGCAGATGGTGGACGCGAGCGGCCGCGCCGCCGCCGAGGGCTGGAGGAAGATGGAGGCCCCGCCGGACGGCGCCGCCGACCTCGTGCCCCTGGACCGCTACGACGCGGCGCGCGCCAAGATCGCCGCCAACCTGCAGTGGATCTGCGCCAAGGCCTACGGCCGAG
Seq A exon
TAATAGCGACGGAAGGAATAACAGCTGAGACTCCCGTGTGCATCCACAGAGCTTATGCTCAGCTGGCGCAGGGCAGGAGATAGACCCTTTCGTTGTTCGGAACGGACAG
Seq C2 exon
ATAACATCCCTGAGGACCTCAGAGACCCTTTCTACGTTGACCAGTATGAGCAGGAGCACATTAAGCCGCCTGTTATCAAGCTTCTCCTGTCCAGCGAGCTGTACTGCCGTGTCTGCAGCCTCATCCTGAAAGGGGACCAGGTGGCCGCCTTACAGGGACACCAGTCTGTCATCCAGGCCCTGTCCCGGAAAGGGATCTATGTGATGGAGAGTGATGACACCCCCGTGACAGAGTCCGACCTCAGTCGCGCACCCATAAAAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559_MULTIEX2-2/13=C1-3
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.062 A=0.000 C2=0.031
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Inclusion Isoform:
ENST00000389532fB1307
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
TTTGTCTGCAGATGGTGGACG
R:
AACAGGCGGCTTAATGTGCTC
Band lengths:
245-354
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