HsaINT0033793 @ hg38
Intron Retention
Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350 [Source:HGNC Symbol;Acc:HGNC:24238]
Coordinates
chr1:180041138-180041802:+
Coord C1 exon
chr1:180041138-180041248
Coord A exon
chr1:180041249-180041661
Coord C2 exon
chr1:180041662-180041802
Length
413 bp
Sequences
Splice sites
5' ss Seq
CAGGTAACT
5' ss Score
8.63
3' ss Seq
TAAACCCCTTTTATTTAAAGGTC
3' ss Score
7.52
Exon sequences
Seq C1 exon
GCACAACAGCAACGCCATGAAAGAGACTTGGCCCTCTTGAAACTAAAGGCTGAACAAGAGGCTCTGGAGAGTCAGAGACAATTAGAAGAAACCCGAAACAAAGCAGCTCAG
Seq A exon
GTAACTTATTTTGCAGCAGGTTCTTGTTTTTTAAACCTAAATTTGTATCTTAGAAATTACTTTAGCGTTCTTTTAATTATATAGGAGAAAAAAGTGTATATATAAATAATAAAGTTTTAGTACTTTTTATGGGATAATGCCATGTAATTCGATTTTTGTTACAACCTTGTGAAATAAATTGTCAAGACTCATTTCCAGTTTAGGGAAGTGGCAACTGAGGTACGTTGTATTTATTTATCCACAGATACAGTAACTTGTGAACAGTAGAGTTAAGACTTAAACCATGAAATCCAGATTGTAGTAAAGTGTTTTTTACTATGAATAAGACATGAAATAAATTTATAAATTAAAATTAATTCAGGAGGAGGGGAGATTAAAACATAACTTCTTTTTTAAACCCCTTTTATTTAAAG
Seq C2 exon
GTCCATGCAGAATCATTACAGCAGGTGGTTCAATCACAACGGGAAGTAACTGAAGTCCTGCAGGAAGCAACGTGTAAAATAGCAGCTCAGCAGTCAGAAACTGCTCGCCTCACCACAGACGCAGCACGTCAAATCTGTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837:ENST00000367607:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.448 A=NA C2=0.233
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF094945=Slx4=PU(76.7=70.2)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACAGCAACGCCATGAAAGAGA
R:
CTCACAGATTTGACGTGCTGC
Band lengths:
247-660
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