Special

HsaEX0014807 @ hg38

Exon Skipping

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350 [Source:HGNC Symbol;Acc:HGNC:24238]
Coordinates
chr1:179996553-180006567:+
Coord C1 exon
chr1:179996553-179997175
Coord A exon
chr1:180003174-180003287
Coord C2 exon
chr1:180006454-180006567
Length
114 bp
Sequences
Splice sites
3' ss Seq
GTGTTACTGGTATGTATTAGGTT
3' ss Score
6.17
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
ACGGAATATACGGAGCTGTGATTTTGAGAGCTCCCAATCATCTGTCATCAATGATACAGTTGTTAGGTTTTTAAATGATCGACCAGCAATTGATGCATTGCAAAATTCTGAATGTTTGATTAGGATGGGAGCTTCTATGAGAACTGAGGAAGAAATGCCTAACAGAACAAAAGGAAGTGAGAATAATTTGAAGCTTTCTGTGAATAACATGGCCCATGATACTGATCCAAAAGCGTTACGACTAACTGACTCTTCTCCATCCTCTACTAGTACTTCTAATTCCCAAAGATTAGATATTCTAAAGCGGCGACAACATGATGTCAAACTGGAAAAACTTAAGGAACGGATTAGAAAACAGTGGGAACACTCAGAAGAAACAAATGGCCGGGGCCAGAAGCTGGGTCATATTGACCATCCAGTAATGGTTGTTAATGTTGATAACTCAGTAACAGCAAAAGTCAGAAAAGTGGCAACAGCACCACCTGCTCCAGCATATAAAG
Seq A exon
GTTTCAACCCTTCAGAGACCAAGATTCGAACACCTGATGGGAAAGTGTGGCAGGAGGCTGAGTTTCAAAACATGAGTAGAGAACTGTATCGAGATTTAGCACTTCACTTTGCAG
Seq C2 exon
ATGATATTTCTATAAAGGAGAAACCTGCTGAAAAAAGTAAAGAGAAGAAAGTAGTCAAGCCAGTACGAAAAGTCCAAAAAGTAGCACAGTTATCAAGTACAGAATGCAGAACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837-'16-22,'16-21,18-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.680 A=0.564 C2=0.949
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TCAGAAGAAACAAATGGCCGGG
R:
CTGCATTCTGTACTTGATAACTGTGC
Band lengths:
242-356
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development