HsaINT0033807 @ hg19
Intron Retention
Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:180049652-180053313:+
Coord C1 exon
chr1:180049652-180049796
Coord A exon
chr1:180049797-180053152
Coord C2 exon
chr1:180053153-180053313
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-CEP350:NM_014810:30
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.769 A=NA C2=0.888
Domain overlap (PFAM):
C1:
PF053946=AvrB_AvrC=PU(42.0=85.7),PF093675=CpeS=PU(48.9=89.8),PF048597=DUF641=PU(25.6=42.9),PF066578=Cep57_MT_bd=PU(9.2=12.2),PF134761=AAA_23=PU(42.7=83.7)
A:
NA
C2:
PF053946=AvrB_AvrC=PD(57.0=90.5),PF093675=CpeS=PD(50.0=71.4),PF048597=DUF641=PD(73.2=95.2),PF066578=Cep57_MT_bd=PD(89.2=92.1),PF134761=AAA_23=PD(56.2=85.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
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
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)