Special

HsaEX0012280 @ hg19

Exon Skipping

Gene
ENSG00000130559 | CAMSAP1
Description
calmodulin regulated spectrin-associated protein 1 [Source:HGNC Symbol;Acc:19946]
Coordinates
chr9:138754313-138758382:-
Coord C1 exon
chr9:138758302-138758382
Coord A exon
chr9:138757178-138757210
Coord C2 exon
chr9:138754313-138754454
Length
33 bp
Sequences
Splice sites
3' ss Seq
TTCTCTCGCTTCCTGAGCAGTCT
3' ss Score
5.63
5' ss Seq
CCTGTAAGT
5' ss Score
7.52
Exon sequences
Seq C1 exon
GTAAATCTTAAAATGAGAGAGATAACAGAGAAAGAAGTTAAATTAAAACAACAGTTATTGGAAAGTCCAGCTCATCAAAAG
Seq A exon
TCTCCCTCCAAGTGGTATTGGAAGTTAGTGCCT
Seq C2 exon
GTCCGCTATCGACGAGAGCACCTTTCTGCTAGGCAGTCACCCTACTTCCCGTTGTTGGAGGATTTGATGAGAGACGGCAGTGATGGTGCTGCTCTCTTAGCTGTGATTCACTATTATTGCCCAGAGCAGATGAAACTGGATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130559_MULTIEX1-4/7=3-5
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (No Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.049 A=0.000 C2=0.007
Domain overlap (PFAM):

C1:
PF0030726=CH=FE(17.8=100)
A:
NO
C2:
PF119713=CAMSAP_CH=PU(48.8=85.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGAAAGTCCAGCTCATCAAA
R:
AAGAGAGCAGCACCATCACTG
Band lengths:
121-154
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