Special

HsaINT0033796 @ hg19

Intron Retention

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:180012191-180013308:+
Coord C1 exon
chr1:180012191-180012327
Coord A exon
chr1:180012328-180013185
Coord C2 exon
chr1:180013186-180013308
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-CEP350:NM_014810:20
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.463 A=NA C2=1.000
Domain overlap (PFAM):

C1:
PF095115=RNA_lig_T4_1=FE(31.5=100),PF0206410=MAS20=PU(54.4=80.4)
A:
NA
C2:
PF095115=RNA_lig_T4_1=FE(28.0=100),PF0206410=MAS20=PD(42.6=70.7)


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:
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