HsaEX0012285 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200847210-200850234:+
Coord C1 exon
chr1:200847210-200847292
Coord A exon
chr1:200847640-200847709
Coord C2 exon
chr1:200848032-200850234
Length
70 bp
Sequences
Splice sites
3' ss Seq
TTTCTTTTTTGCATTTGAAGGAG
3' ss Score
7.7
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
TGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAG
Seq A exon
GAGGAATTAGAAGGTCTTCATCTATGTCTTATGTTGATGGCTTCATAGGGACATGGCCCAAAGAGAAAAG
Seq C2 exon
ATCATCAGTGCATGGCGTATCATTTGATATTTCTTTTGATAAAGAAGATAGTGTACAGAGATCCACTCCAAACCGAGGAATCACTCGTTCTATTAGTAATGAAGGACTTACTCTGAACAACAGTCATGTATCTAAACACATTAGGAAAAATTTGTCCTTCAAGCCAATAAATGGAGAAGAGGAAGCAGAGAGCATTGAAGAAGAACTTAATATAGATTCTCACAGTGACCTCAAATCTTGTGTGCCCCTTAACACAAATGAACTAAATTCTAATGAGAATATTCATTACAAGCTTCCAAATGGAGCTTTACAAAATAGAATACTTCTTGACGAGTTTGGCAATCAGATCGAGACACCAAGCATTGAAGAAGCATTACAAATAATTCATGATACTGAAAAATCTCCTCATACACCTCAGCCAGACCAAATTGCTAATGGCTTCTTTCTTCATAGTCAAGAAATGAGTATCTTAAATTCAAATATCAAGTTAAATCAATCTA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'26-31,'26-30,27-31
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.832 A=0.142 C2=0.847
Domain overlap (PFAM):
C1:
PF116003=CAF-1_p150=FE(16.3=100)
A:
NO
C2:
NO
Main Skipping Isoform:
ENST00000447701fB31500
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGAAGGAGCTACATTTACACA
R:
ACGAGTGATTCCTCGGTTTGG
Band lengths:
170-240
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