HsaEX0012284 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200739558-200807537:+
Coord C1 exon
chr1:200739558-200739966
Coord A exon
chr1:200760839-200761098
Coord C2 exon
chr1:200807376-200807537
Length
260 bp
Sequences
Splice sites
3' ss Seq
TTTTCCATTAATCTTTATAGAAA
3' ss Score
6.71
5' ss Seq
ATGGTGAGT
5' ss Score
10.13
Exon sequences
Seq C1 exon
ACGGGGCGGACCTCGCGCGGACGGACGGACGGAGACGGCGCCGCCACATTCCTATGCCCGGGAGCGGCGGCGGCGGCGGCGGCGGCTCCCGCGGGAGGCGGCAGGCGCGCGGCGCGGACAGCTGAGCTTCTCCTCCGTCGGCGCCCGGGCGGACATCGCCCGGGCCCCGATGGTTTGAGCTTGCTTCTCCCTCCCTCCCGACCCCCGTGGTGGCGAGGCCACGCCATGTGAAGGTTAGGGCCGGGACATCCCGAGGAGCCGCGGTGAAAGATGGGGGATGCTGCAGACCCCAGGGAGATGAGAAAGACGTTCATTGTTCCAGCCATCAAGCCTTTTGACCACTATGATTTCTCCAGGGCCAAAATCGCCTGCAATCTGGCCTGGCTGGTGGCCAAAGCCTTTGGGACAG
Seq A exon
AAAATGTGCCAGAGGAACTTCAAGAACCATTTTACACAGATCAGTATGACCAGGAACACATCAAACCACCTGTTGTTAATTTGCTTCTATCGGCTGAACTATACTGTCGTGCTGGGAGTCTCATTCTCAAGAGTGATGCTGCAAAACCCCTTTTGGGCCATGATGCTGTAATCCAGGCTTTAGCACAGAAAGGTCTTTATGTCACTGACCAGGAAAAATTGGTAACTGAACGAGATCTCCACAAGAAACCCATACAGATG
Seq C2 exon
AGTGCACATTTGGCCATGATCGATACCCTCATGATGGCTTATACTGTAGAAATGGTCAGTATAGAAAAAGTAATTGCGTGTGCTCAGCAGTATTCAGCTTTTTTTCAAGCCACAGATCTGCCCTATGATATTGAGGACGCTGTCATGTACTGGATAAATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'0-7,'0-2,3-7
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.064 A=0.034 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF0030726=CH=PU(5.7=16.7)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGAAAGATGGGGGATGCTG
R:
TCCAGTACATGACAGCGTCCT
Band lengths:
301-561
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development