Special

HsaINT0033807 @ hg38

Intron Retention

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350 [Source:HGNC Symbol;Acc:HGNC:24238]
Coordinates
chr1:180080517-180084178:+
Coord C1 exon
chr1:180080517-180080661
Coord A exon
chr1:180080662-180084017
Coord C2 exon
chr1:180084018-180084178
Length
3356 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGA
5' ss Score
10.77
3' ss Seq
AGATTTTGTATCTCTTTCAGAAA
3' ss Score
8.63
Exon sequences
Seq C1 exon
TCACTTCCCAAAAGCTGCACATCTGTGTCAAAGCAGGAGTCTAGCAAAGGAAGTCATAGGACTGGAGGACAATGTCACCTGCCTATCAAGTCCCATCAGCACTGTTATAGTTGGTCAGATGAGTCATTATCTATGACACAGTCAG
Seq A exon
GTAAGACTAATCATGAGGAGTTTTTATTTGTGTTGTATTTGAACAGCCTTTACTCTAAAAGGCTTCAAGGAGTTTGTTGACCTTAGGAAGCATATGTAGACAGACAGTGGTGAGTTTATGTAGGATTGTGAAGAAGATTAATACCATATTGAATATTGCCATATTGAATATATCGAGTTAGGCATATTCAGTGTATTGCTTTTTTTGTTATTTTTTAAGACAGAGTCTCACTGTGTCACTCAGGCTGGAGTGCAGTGGTGCGATCTTGTCTCACTGCAACCTCCGCCTCCCAGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGAAGCTGGGATTACAGGCACCCGCCACCACGCCTGGCTAATTTTTGTATTTTTTTTTTTTTAGTAGAGACGAGGTTTCACCACGTTGGCCAGGCTGGTCTCAAACTTCTGACCTCAGGTGATCCACCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCACCCGGCCCACTGTACTGCTTTTTGAATTCAGTTTTAGTTTTGAGAGTAAACATTTAGTAAACGAAACATGAAAATTGTTATTCTTTGGGTTTTTTTTGGTAATTAATTATGTGTTGTACCTTTTTGTTTTCCATGTGTCAGACAATTATAAATCATGGAATTTTCCTACACCCATGTTTACAGCTCTTCTTTCTTCTTTGAGTAACTATATAATATTTCAAAGAGTAGATGTACCATAATTTATTTAACTGTTTCCCTAGTGATGGCTATTTAGATTTTCTTAAATATTTCACAATTGCAAATAATGCTATAATAAACATCTTTATTTAAAGATTTACACACACATATGTATGCAGTCATGCATCACTTAACGTCCAGGATATGCTCTGAGAAATGTGTCATTAAGCAATTTCATCATTATATGAACTGCGTAGAATGAACTTAGGCAAACCTAGATTGTGTAGCCTTACTGCACTCTCAGGACATATGGTATAGCCTCTTGCTCCTAGGCTGTAATACCTGTACAGTATATTACTATACTGAATGCTATATGCAGTTGTAACACAATGTTAAGTATTTGTATATCTAAACATAGAAAAGGTGTAGTAAAAATATTATGACTCACATGTGTATGTGATATCATATATCATTTATGTGTGTGTTTATCATGTATAATAAAAATTCTTTTTGTATATTTCAGTGTGGAATAGATTCTTAGGAATAGAATCATTGAGTCAGGCCAGTTGAAGAAAGTTGTCTCATATTTCTCTGTGGAAATTTACTAATGTTTTTATATATTTGCTTTTATGTACGTTGGTGAAAAATTACTTCCAAGAGAATAACATGTCAGTAGACATAAACTTGAATACTTGGAAACATGGGTTCTTATCCTGGATCTCTTACTTACCGGTGACTTTCTTCAAGTTTCTTTGCCAATACTGGATTATCTTTTTCATTTGTTAGCAATGGAATAATGTTTCAACCATCCTTGCATGAGTTATGCACCAAGGATTAATAATAACATTTGTAAGATACTGTTTTATTGGTGACACTTATTTAAGTAAGAATAAATGGTTTTAGAAAAGTAGCTCTGAGGTTTCTAAACTACAGATTCACTACCTATTCAAGATGACATTATTTATATTCAGTATTTGTAGAAGTGGTAGATATTAATGTAGTAGAGTTATAATACCTTTACTTAAATGATGGGAGAGTTTATCAACCAAGCTAATATAATCAGTGTGTGTCAAATAATCAGAAACTCCCGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGCGCATGCTGCCACACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGTTTTGCCATGCTGCCCAGGGTAGTCTCAAACTCCTGACCTCAAGCAGTCTGCCCACCTTTGCCTACCAAAATGCTGGGATTACAGGCACGAACCAGTGCGCCCGGACTGCATTTGGTTTCTTTAGTACTTAAAAACATAAACATTTTCCAAGGTCTTTCATCTAAAAACCCCAGGTTTTTCATCACCTGCTATTAAATCTTCAACCATAGATGGTAAATATATTTTTTATTGAAAATCACTGCTGGCATATACAATTTTTAAAAATATTAATTTAAAATAGTTATTTTGGGGGCAAAATTGAAACTAAGCCTGTAAGAGTGTAGTGGTGTACAAAATCTTACCAAAATAATAATAATTTTGGAAGCACATAAGTAAATATTGAGCCTTGCCTATGCTAAGGACTCAGTATGATGCCACCACTAATATAAAACAAGCCTAACTTTCCTAGTATGTCTTAACTCAGTGTCATAGAAGTGACAGGAACTCAGATTTTATTATTTCTTATTCAGACATTTAGACCACACTATTAAAAAGACTGTAATCTTTTTGCATTTAAATAACTTCCATAACTAGCTCTTACACGGTTTAATCTGAAGTAACTGATAAAATCCTGGTTTTTGATGTGATGTTAAGTCTTAAGATTTGTGTATATTATTTCTGTTGTAAGACTATTAAATGTCTCACTCAACATTAGTATATGGAAATGACACCATTGTGTGATTGAGGGAGGTGTGAGGAACAGTAATTTCTATCCTATGTAATTTCCATGTGTAGTGAAATAAGCAGTGTCTTTAAATGATACCTGTTTGTTTTCATAGCATGTGTATGACACATTATAATGAAATATCTTTTTCATGATGTTGCTATGAGTAGACGTCTTGTGTATGTGAACTGTTGGAGAGAAAAGATTTAACTAGCTTCATTTCAGTTATTTTAAATATTTTGAGAGCTTTCAAAGAGAGATTACAGCAGAGTCTATTTCTTTATAACTTCTCTCTTTTTAATGTGGTATTAAGCCATCAGGGAATGAATCACAAGCAATTTGAAGTGGTAAAACTCTAGTTTGATTTTAATATGACTTAAAAACTATTAAATTATGTATTAATAACTAAGGCAAAAGACAGTTAAATATGATTATCTTGTTACCAGAAGTAATTTCTTGCAGAATATCCAAATTTCATCAATCTAAAAATTTCTCAACTTCCAGCTGCATGTCTTACCAAGACAGCGTATCTCAAGATTTATTTATAATTTCAAGTAGTACAATTAGAAAGTGAAAATAAATAGGAGGAACCAAGCCAAAAATAAAGTGTATGTGGCGGGCGGCGGGGAGGGTGGGAATTATAGGGATACATTTTAGTAATAAATCTTCTTCCGAAGCTCATATTTTAATTATTAGATTGGCTTTATTTAAATGGAATATTACATTACAGCTTTTTATTAGTAGTTACTGAGTTAACATTATTCTTAAGTCAAAATTATAAATAAAAGATTTTGTATCTCTTTCAG
Seq C2 exon
AAACTACATCTGACCAGAGTGATATTGAAGGTAGGATCAGAGCTCTGAAGGATGAGTTGCGGAAAAGAAAATCAGTTGTGAACCAGCTGAAGAAGGAACAGAAAAAAAGGCAAAAGGAAAGACTGAAAGCCCAAGAAGCCAGTCTGATCAAGCAGTTAGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837:ENST00000367607:30
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.769 A=NA C2=0.897
Domain overlap (PFAM):

C1:
PF093675=CpeS=PU(48.9=89.8)
A:
NA
C2:
PF093675=CpeS=PD(50.0=71.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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