Special

HsaEX6092463 @ hg38

Exon Skipping

Gene
ENSG00000076826 | CAMSAP3
Description
calmodulin regulated spectrin associated protein family member 3 [Source:HGNC Symbol;Acc:HGNC:29307]
Coordinates
chr19:7615418-7617438:+
Coord C1 exon
chr19:7615418-7615719
Coord A exon
chr19:7616523-7616622
Coord C2 exon
chr19:7617326-7617438
Length
100 bp
Sequences
Splice sites
3' ss Seq
CCTGCAATCTCTGTCCCCAGGCT
3' ss Score
10.07
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
Exon sequences
Seq C1 exon
GCTGGCCCAAGAGGAGGCCCCGGGCCCAGCCCCGCTTGTGTCCGCAGTCCCGATGGCGACTCCAGCCCCTGCTGCCCGGGCTCCAGCCGAGGAGGAGGTGGGCCCCCGGAAGGGGGACTTCACGCGGCAGGAGTACGAGCGCCGGGCCCAGCTGAAGCTGATGGACGACCTCGATAAGGTGCTGCGGCCCCGGGCTGCGGGGTCCGGGGGTCCAGGTCGGGGCGGGCGGAGGGCCACCCGGCCTCGCTCGGGTTGCTGTGACGACTCAGCCCTGGCACGAAGCCCAGCCCGCGGCCTGCTGG
Seq A exon
GCTCTCGGCTGAGCAAAATCTATTCCCAGTCCACCCTGTCACTGTCCACTGTGGCCAACGAGGCCCACAATAACCTCGGGGTGAAGAGGCCCACGTCTCG
Seq C2 exon
GGCTCCCTCCCCGTCAGGTCTCATGTCCCCAAGCCGCCTGCCTGGAAGCCGCGAACGGGACTGGGAAAATGGCAGCAATGCCTCCTCCCCAGCGTCAGTGCCCGAGTACACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000076826-'17-24,'17-23,18-24=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=0.941 A=0.559 C2=1.000
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF086836=CAMSAP_CKK=PU(0.8=2.6)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
CTTCACGCGGCAGGAGTAC
R:
CCATTTTCCCAGTCCCGTTCG
Band lengths:
257-357
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains