Special

HsaEX0014805 @ hg19

Exon Skipping

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:179956375-179961356:+
Coord C1 exon
chr1:179956375-179956421
Coord A exon
chr1:179959642-179959756
Coord C2 exon
chr1:179961197-179961356
Length
115 bp
Sequences
Splice sites
3' ss Seq
TGATGGTGTTTAAACTTTAGCTG
3' ss Score
4.91
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
CAGATATAACCACATCGTGGGATGCACTTTCTCAAACCAAGGCTGCT
Seq A exon
CTGAGACACATTGAAAATAAATTAGAAGTAGCCCCTACAAGTACAGCTGTGTGTGATTCTGTCATGGATACCAAGAAGTCTTCTACAAGTGCTACTCGAAAAATAAGTAGAAAAG
Seq C2 exon
ATGGTAGATACCTGGATGATTCTTGGGTTAATGCTCCAATCTCCAAATCCACTAAATCACGAAAAGAGAAATCTCGTAGTCCTCTCAGGGCCACCACCCTGGAGAGTAATGTGAAGAAAAATAATCGTGTGGAATTTCGTGAACCTTTGGTTTCTTATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837_MULTIEX1-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.357 A=0.792 C2=0.582
Domain overlap (PFAM):

C1:
NO
A:
PF123953=DUF3658=FE(48.1=100)
C2:
PF123953=DUF3658=PD(13.9=20.4)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCGTGGGATGCACTTTCTCA
R:
CTATAAGAAACCAAAGGTTCACGAA
Band lengths:
195-310
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