HsaINT0033796 @ hg38
Intron Retention
Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350 [Source:HGNC Symbol;Acc:HGNC:24238]
Coordinates
chr1:180043056-180044173:+
Coord C1 exon
chr1:180043056-180043192
Coord A exon
chr1:180043193-180044050
Coord C2 exon
chr1:180044051-180044173
Length
858 bp
Sequences
Splice sites
5' ss Seq
TAGGTTAAT
5' ss Score
1.23
3' ss Seq
AGTTTTTATTTTATTTGTAGGAA
3' ss Score
7.61
Exon sequences
Seq C1 exon
ATGGCAGAGTTGACTAGAACTCATATCTCAGATGCTGTCGTGGCTTCAGGAGCTCCCCTTGCAATACTGTATGACCACCAACGGCAGCACCTTCCAGACTTTGTGAAACAGCTGAGGACCAGAACTGAAACAGATAG
Seq A exon
GTTAATATTCATTCAGTCAGCAAATATATAATGACTGTCTGTTAGGTTAATATTCATTCAGCAAATATGTAATGAGTATTTGTTGTTATAGGCATTATTCTTGGTTGAGAATACAGTTATGGGCATAGTCTAGTAGGGAAGATAAACATTACTCAAATATTCAGTTAAGTGAATGAATACTTATACACTGATTTAAGTGTTATGAAAGAAGGGAACACATGTCTCAGAGATAATGTAACACAGGAATTTGAATAGCCTGGGGGTGCCAGCAGGTCAGAGAAGGCTTTCCTGAGGAAATAAAGCTTGTGGTGCAATCTAATGGATGAGGAGTTAGTAATGTAAAGGAGGTAAAGAATAGCTAGATCAAAGGCCCTGAAGGAAGAAGGAACATAGCATATTTAAGAAAAGAAATAAAGACCATTGTGGCTGGAGGCAGAGAGCAAAGAAAATGGTATGAGATGATGCAGGGATCAGATCAAGGTATAGGACCTTGCAGACTTAGGATTTTGGAGTTTATTCTAGGAGCAATGAAGTCATTAAAGAGATTATTTTTGGCGGGACTGGGTGACATTACCATATTTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTTAATCATATTTTGACTGTCTCTAATTCATAGATTTTAAGTCTCTGTTTACATTCATTGATACTAGGAGTGATTTGTGTTTACTTCCTTAGTAAAACAGAAGATATTCTTTAATGTGTTGTAAGTTATTTTATAATATCTATTTGTTCAAGATTTTATCTCATATTACTATTAAGCAATACTTAAAATCTTTCTGTTATTAGAGACTTTGAATGTTTAATCAGTTTTTATTTTATTTGTAG
Seq C2 exon
GAAAAGTCCATCTGTTTCACTCTCTCAGAGTAAAGAAGGGACCCTTGACTCAAAGCATCAGAAGTATTCTGCTTCATATGATAGTTATTCTGAGTCTTCAGGATACAAGAATCATGATAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837:ENST00000367607:20
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.467 A=NA C2=0.962
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF094945=Slx4=PD(18.6=72.7)
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:
TTGACTAGAACTCATATCTCAGATGC
R:
ATCATGATTCTTGTATCCTGAAGACT
Band lengths:
246-1104
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