HsaEX0034176 @ hg38
Exon Skipping
Gene
ENSG00000076826 | CAMSAP3
Description
calmodulin regulated spectrin associated protein family member 3 [Source:HGNC Symbol;Acc:HGNC:29307]
Coordinates
chr19:7606476-7608264:+
Coord C1 exon
chr19:7606476-7606571
Coord A exon
chr19:7607821-7607868
Coord C2 exon
chr19:7608126-7608264
Length
48 bp
Sequences
Splice sites
3' ss Seq
GGCTGCTCCTCTCCCCCCAGCAC
3' ss Score
8.53
5' ss Seq
ATGGTAATG
5' ss Score
5.46
Exon sequences
Seq C1 exon
ACCGTCCGGCGGCTGCAGGAGAAGACCGAGCAGGAAGCGGCCCAGCGAGCCTCTCCAGCAGCCCCTGCAGACGGGGCGGCCCCGGCGCAGCCCTCG
Seq A exon
CACGCAATTGCCTTCTGTTTGAAGGAGTCGGGGAGCAAACCCCCCATG
Seq C2 exon
ATCCGATACCGCAAGGACCGTGTGGTGGCGCGACGTGCCCCCTGCTTCCCGACGGTGACCAGCCTCCAGGACCTGGCCAGTGGGGCCGCGCTGGCCGCCACCATCCACTGCTATTGTCCCCAGCTGCTTCGACTTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076826_MULTIEX1-2/2=C1-C2
Average complexity
C2
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.625 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF119713=CAMSAP_CH=PU(48.2=85.1)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGAGAAGACCGAGCAGGAAG
R:
TGGAGGCTGGTCACCGTC
Band lengths:
148-196
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