HsaEX6035856 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200853275-200856125:+
Coord C1 exon
chr1:200853275-200853495
Coord A exon
chr1:200854817-200854889
Coord C2 exon
chr1:200856010-200856125
Length
73 bp
Sequences
Splice sites
3' ss Seq
AATTTATCGTGTTTTTTCAGTCT
3' ss Score
7.26
5' ss Seq
AAGGTAAAT
5' ss Score
8.88
Exon sequences
Seq C1 exon
GCGTAAAACTGAGGAAGAACGTCAGAAGAAAGAAGATGAGAGAGCACGCAGAGAATTTATTAGGCAAGAATATATGAGGCGGAAACAACTGAAACTAATGGAAGATATGGATACAGTAATTAAACCCCGTCCTCAAGTAGTAAAACAAAAAAAACAGCGACCAAAATCTATTCACAGAGATCATATTGAATCCCCCAAAACACCAATAAAGGGTCCTCCAG
Seq A exon
TCTCTAGCCTTTCTTTGGCATCGCTGAACACGGGTGATAACGAGAGTGTACATTCAGGCAAGAGGACGCCAAG
Seq C2 exon
ATCAGAGTCTGTAGAAGGCTTCTTATCTCCAAGTCGTTGTGGCAGTCGAAATGGAGAAAAAGACTGGGAGAATGCATCAACAACTTCTTCAGTGGCTTCTGGAACAGAATATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200-'36-43,'36-41,37-43=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.975 A=1.000 C2=0.943
Domain overlap (PFAM):
C1:
PF116003=CAF-1_p150=PD(22.9=80.9)
A:
NO
C2:
PF086836=CAMSAP_CKK=PU(0.8=2.5)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGTAATTAAACCCCGTCCTCA
R:
TTCTCCATTTCGACTGCCACA
Band lengths:
167-240
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains