Special

HsaEX0034175 @ 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
chr19:7606777-7606809
Coord C2 exon
chr19:7608126-7608264
Length
33 bp
Sequences
Splice sites
3' ss Seq
CTCTGCCTCTCTGGCCTCAGTGC
3' ss Score
8.89
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
ACCGTCCGGCGGCTGCAGGAGAAGACCGAGCAGGAAGCGGCCCAGCGAGCCTCTCCAGCAGCCCCTGCAGACGGGGCGGCCCCGGCGCAGCCCTCG
Seq A exon
TGCCCTACGCGCTGGTACTGGAAGCTGGTTCCT
Seq C2 exon
ATCCGATACCGCAAGGACCGTGTGGTGGCGCGACGTGCCCCCTGCTTCCCGACGGTGACCAGCCTCCAGGACCTGGCCAGTGGGGCCGCGCTGGCCGCCACCATCCACTGCTATTGTCCCCAGCTGCTTCGACTTGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076826_MULTIEX1-1/2=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)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCGGCTGCAGGAGAAGAC
R:
CACACGGTCCTTGCGGTATC
Band lengths:
112-145
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