Special

HsaEX6035237 @ hg19

Exon Skipping

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:179955304-179959756:+
Coord C1 exon
chr1:179955304-179955389
Coord A exon
chr1:179956378-179956421
Coord C2 exon
chr1:179959642-179959756
Length
44 bp
Sequences
Splice sites
3' ss Seq
ATCATTTTTTTTCCCAGCAGATA
3' ss Score
8.7
5' ss Seq
GCTGTAAGT
5' ss Score
8.56
Exon sequences
Seq C1 exon
GTAAATTGGCAGGATGAGGAGCAGCAAATCAAAAGAGGTGCCTTTACCAAATCCAAGGAACTCTCAAAGCAAGGATACTGTTCAAG
Seq A exon
ATATAACCACATCGTGGGATGCACTTTCTCAAACCAAGGCTGCT
Seq C2 exon
CTGAGACACATTGAAAATAAATTAGAAGTAGCCCCTACAAGTACAGCTGTGTGTGATTCTGTCATGGATACCAAGAAGTCTTCTACAAGTGCTACTCGAAAAATAAGTAGAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837-'2-6,'2-5,3-6=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=0.349 C2=0.792
Domain overlap (PFAM):

C1:
NO
A:
PF123953=DUF3658=FE(17.7=100)
C2:
PF123953=DUF3658=FE(48.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


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:
AATTGGCAGGATGAGGAGCAG
R:
ACAGCTGTACTTGTAGGGGCT
Band lengths:
133-177
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains