HsaEX0012287 @ hg38
Exon Skipping
Gene
ENSG00000118200 | CAMSAP2
Description
calmodulin regulated spectrin associated protein family member 2 [Source:HGNC Symbol;Acc:HGNC:29188]
Coordinates
chr1:200841994-200847292:+
Coord C1 exon
chr1:200841994-200842087
Coord A exon
chr1:200844782-200844869
Coord C2 exon
chr1:200847210-200847292
Length
88 bp
Sequences
Splice sites
3' ss Seq
TTAAAAATCTTTTATTCCAGCTG
3' ss Score
7.37
5' ss Seq
AAGGTAAAC
5' ss Score
8.14
Exon sequences
Seq C1 exon
AGTAATTATTTGGTGTTCATGGCGGAACTGTTCTGGTGGTTTGAAGTGGTGAAGCCGTCTTTTGTACAGCCTCGTGTTGTTCGTCCACAAGGAG
Seq A exon
CTGAACCTGTAAAAGATATGCCTTCAATTCCTGTCTTGAATGCTGCCAAAAGAAATGTCTTAGATAGTAGTTCTGACTTCCCTTCAAG
Seq C2 exon
TGGGGAAGGAGCTACATTTACACAGTCTCATCATCATTTGCCTTCTAGGTATTCACGTCCCCAGGCTCATTCTTCAGCCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000118200_MULTIEX1-2/6=C1-4
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.028 A=0.070 C2=0.832
Domain overlap (PFAM):
C1:
PF0030726=CH=PD(25.4=46.9)
A:
PF116003=CAF-1_p150=PU(9.6=53.3)
C2:
PF116003=CAF-1_p150=FE(16.3=100)
Main Skipping Isoform:
ENST00000236925fB11272
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTATTTGGTGTTCATGGCGGA
R:
GCTGAAGAATGAGCCTGGGGA
Band lengths:
167-255
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