Special

HsaINT0033794 @ hg19

Intron Retention

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:180010797-180012327:+
Coord C1 exon
chr1:180010797-180010937
Coord A exon
chr1:180010938-180012190
Coord C2 exon
chr1:180012191-180012327
Length
1253 bp
Sequences
Splice sites
5' ss Seq
GAGGTAGGT
5' ss Score
9.65
3' ss Seq
TTGTGTGTGTTCATGTTTAGATG
3' ss Score
8.71
Exon sequences
Seq C1 exon
GTCCATGCAGAATCATTACAGCAGGTGGTTCAATCACAACGGGAAGTAACTGAAGTCCTGCAGGAAGCAACGTGTAAAATAGCAGCTCAGCAGTCAGAAACTGCTCGCCTCACCACAGACGCAGCACGTCAAATCTGTGAG
Seq A exon
GTAGGTGCCACTGAGAACACTTCTCTTTTTACTTCTTTTTAGTCAATCTGAGTAACTTTGATCTTCAGTAATGGGTTTCTAATATCTTAGTAAATGCATACTTTGAATTAGTGACTTTTAGTGGGGGCCATACCCTATTGAAATAAGAGGCACCATTGATTGGAGTGTGTTGTACATGTGATTGAATGTTATAGAGGCAGAAAAAAGATGAAGAGCTCTAAATTTCTGCCCTCTGGTAAGCTTTTTAGAAAAATATCAACTTTATTGATGTATAATTTATAAACAATAAAATGTACCTATTTTAAGTATGCAATTTGGTGAGTTTTCTCTCACACACACACACACACACACACACACACACACACATCTCCCTATAACCATCACCACAATCCAGAAATAGCATATTTCCTCATGTCTCTTTGCAACCAGTCCCTAATCTCAGTCCTGGGGAACCACTGATCTGCTTTGGGTGAAGATGTTTCATTTTTACCCAGAATGATATTAGTTACTGTCTTTTCTTCTATAACGTGGGTATAGCCCAAAGTAGTTTTATTGCTGTCTCTACATAGGATATCACAATTCATAATTGATACAGTTTCACTTTATTTTAGCAGTTATAATTTTTTTAAACCAAAAGTTAGTACTATTTGTAAAATGACTTAGTTATTGGAAATCCATGAATGTACTATATGTTGGGTACTGTGGAGTTGTACATTTTAGTATAAAACTGAGTCTCCTTTCTCAAGAAAATTAAAATGTAGACAACATCAACAAAGATTTCAAAACACTTTAAGTCATTAGTAAAAGGAATAGCTCAAAGTAGTGCTTGAACAAATACTGAATGGATGGTACATGCAGCACTTGCAGTAGTGGTTAAGAATAGGGAAAATGTACTTGACCTGTTGGTCAGCAAAGAGTTAGAAAAGAAGTAGTAATTAAATTGATTCTTGAAGGAAGATTTAATTTTTGGCTTATTACTGCTTATGTTATGCTTTAAGGTTTTCTGTCTAATTCATAGATTGTTATAGCTGGGTGAAACCGTAGAAATCATGTAGTCTAACTCTGTTTTTATAAGATGAAGCTGTTGAGACTTAAAGAGGCTAAATGACTTGTCCACAGTATTTCATCTATTAGTGGCAGAATTTGCTTGTTCTCAAGTCAGTGATCTTTCTTTCCAAGACACTATGCTCCTTCTCAGTTCTCTGACCTTACGTTTTAATACATTTGCCTTTCTTGTGTGTGTTCATGTTTAG
Seq C2 exon
ATGGCAGAGTTGACTAGAACTCATATCTCAGATGCTGTCGTGGCTTCAGGAGCTCCCCTTGCAATACTGTATGACCACCAACGGCAGCACCTTCCAGACTTTGTGAAACAGCTGAGGACCAGAACTGAAACAGATAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837-CEP350:NM_014810:19
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.257 A=NA C2=0.463
Domain overlap (PFAM):

C1:
PF055966=Taeniidae_ag=WD(100=70.2),PF094945=Slx4=PU(76.7=70.2)
A:
NA
C2:
PF095115=RNA_lig_T4_1=FE(31.5=100),PF0206410=MAS20=PU(54.4=80.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
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:
GTCCATGCAGAATCATTACAGCA
R:
CTATCTGTTTCAGTTCTGGTCCTCA
Band lengths:
278-1531
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