Special

HsaINT0033516 @ hg19

Intron Retention

Gene
ENSG00000119397 | CEP110
Description
centriolin [Source:HGNC Symbol;Acc:1858]
Coordinates
chr9:123933686-123935787:+
Coord C1 exon
chr9:123933686-123933826
Coord A exon
chr9:123933827-123935520
Coord C2 exon
chr9:123935521-123935787
Length
1694 bp
Sequences
Splice sites
5' ss Seq
CAGGTGTGT
5' ss Score
6.99
3' ss Seq
GACACCAACTCACTGTTTAGATG
3' ss Score
4.99
Exon sequences
Seq C1 exon
GAGCAAAAACAGGAGAACAGCTGCATACAAAAGGAAATGGCAACAATTGAACTGGTAGCCCAGGACAACCATGAGCGGGCCAGGCGCCTGATGAAGGAGCTCAACCAGATGCAGTATGAGTACACGGAGCTCAAGAAACAG
Seq A exon
GTGTGTGCCCAGAAAGCCCAGCTGGCCAGCCTGGGGAGAGAGGACTCACTGGGCTCAGGCAGATTGTATTGTTTTTAATATCCCTTCTATAGTAGTATAGAAAAGCTGATTATAAGAATGTTCTTTAAGTCAAATCTGGTTTTTTAGCCTTAAAATTTAGAAACACACCTTGACTATTAAAAATATAAATTTCTCTTAAATTTGACAAGCTCTTAAAATGTTAGTTTTTCAAGGAAAAAAGGTAATTCTTGAGCATCATATTTCATGTCCCAAAGAACTATGTTGAAATGCTAGATTTTATGCCATAAACAAGTCTATAGGAGCCAAAACCTCCCCTACCCCTTGAGCAAGAAAAGATGGTCCGGGGGAAACCTTTGATATCACATAATGTAGCCAGGCAGAGAGTATTAAACCAGTTCATGCCTGGACTGGTAGAGTCTCTAATCCTTGATATCTCTGGTGTCCTTTAGAGCATCTGGGCCATCCCTGAACTCTAGTCGGGCTGCTGTAGCCACTCATTTGGCCCTGCTATACTTAGTCTTTTGGGTGACCCCACGTGGCCATTCTAGTTTCATCTGTGCTTCCAATCCCCTGATGCCCCACATATACCCACCATTTAATTCAAGAAAAAATAACCAAAAAAAAATTATTTAAAGACCACAAGCCCTTAGTGATTTTGCCTTTGCAAATTTGGTAAGGCAATTAGCAGTAGGTATAAATTTCATATTTCACTAAGCTCTATATGGGGTAGAGCCACATAGAGTAGTCTCAGGCATCAAATGCAGTTGGTAACACTTTAAGAAACCTCTAGGCTGGGTGCGGTGCTGCATTCCTGTAATCCCAGCACTTTAGGAGGCCAAGATAGGTGGATCGCTTGAGCTCAGGAGTTCAAGACCAGCCTGGGAAACATGCCGAGACCCCGTCTCTACTAAAAATACAAAAAGTAGCTAGGTGTGGTGGTGTACACCTGTAGTCCCAGCTATTCGGGAGGCTGAGGGGGGAGGATTGCTTGAGCCTGGGAGGTTGAGACTGCAGTGAGCCAAGATTGTGCCACCGCCCTCCAGCCTGGGTGACAGAGCAAGACCCTGTCTTTAAAAAAACAAAACAAAACAAAAATGTATATTGCCAAGCCACCAGATTCTTCACTTATAAAATTCCAGCATTAGCATTTATAATCCAGATCACTTATGACTTATTTCAGTAAATGGCCCTTTTCTCATTTGTGGCTTATTTACTCTAGTTGCCAGTTGGGTGCCACTGAGGTGCTTCATGTAAATTCTCACTTAGTTTTTACATTTCTGAGCAGAAGGTATTTATCTCCATGTATAAATGAGGTAATGGAGGATCAGATGTTAGCCAACTTGCCCTGTCATACTGGTAATACTGGAAATCAGATTGGTAACTAGCTTTGTCTGACTCCAAAGAGATTGTCTTCTATAGAGTAATTCACCTTCAAGGAACTTTATGCACATGGCTTTTCTAAATGAAAGTTGTTCCAGTTAAAATGCCAATAAAATAATTTATTCAGTAGCTTATAGAGTCTTGAGTATCTGAAAAATCACAAGTTTTTACAGTTCTAGTAATCATAGTAGTTGATATTTATAGATCTTTAAATACATGGCACATCATACAGCTCAATTCCAAGTAAGTCTGAAATTTTATACAATGATATTTGACACCAACTCACTGTTTAG
Seq C2 exon
ATGGCAAACCAAAAAGATTTGGAGAGAAGACAAATGGAAATCAGTGATGCAATGAGGACACTTAAATCTGAGGTGAAGGATGAAATCAGAACCAGCTTGAAGAATCTTAATCAGTTTCTTCCAGAACTACCAGCAGATCTAGAAGCTATTTTGGAAAGAAACGAAAACCTAGAAGGAGAATTGGAAAGCTTGAAAGAGAACCTTCCATTTACCATGAATGAGGGACCTTTTGAAGAAAAACTGAACTTTTCCCAAGTTCACATAATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000119397-CEP110:NM_007018:38
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.372 A=NA C2=0.361
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NO


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCAAAAACAGGAGAACAGCTGC
R:
TGGAAGGTTCTCTTTCAAGCT
Band lengths:
346-2040
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development