Special

HsaINT0033791 @ hg19

Intron Retention

Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:180002997-180006224:+
Coord C1 exon
chr1:180002997-180003217
Coord A exon
chr1:180003218-180006060
Coord C2 exon
chr1:180006061-180006224
Length
2843 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGT
5' ss Score
10.86
3' ss Seq
ACCATTGTCATGCCTTCCAGGTT
3' ss Score
9.61
Exon sequences
Seq C1 exon
TGTCTCATCAGATAAGGGAAGATCTCAGAAAACTCCAACTTCTCCCCTGTCACCAAGTTCCCAGAAATCATTGCAGTTTGACGTTGCAGGAACTTCTTCAGAAAGATCTAAGTCGTCAGTAATGCCTCCAACTATAACAGGATTTAAGCCTAATGCACCTCTCACTGATCTGAACCCGGCAGCCAGCAGAACAACGACAGAGAACATGGCTCCAATACCAG
Seq A exon
GTAAGTAGATTCATGCAATTGTAATTTTTAGAATACGATATGAAATTTTTTTCTCTCAACATTCCTTTTCTTTGTTTGAGTTGAGTCATAGAGAAATATTATTTCAAGTGAATATGATTACTTTTCAAGTATTAAAAACTGCAAGAAATTAAATATTGAAAAGCACGAGAGGTTCAGTAATGTTGACTTTTTTCCCATCTTGTCAGCCAGCATTAGTCAAAACATATCTGAAAAATATGTCCCATATGTGCACTCCTGTTTATATGTATATGCATGTATACACACATGTACGCATGCACACACATAGAAGTAAAGTACATTGTATAGGCATACCTTGTTTTATTGTGCTTGGCTTTATTGCATTTCACAGATACTGCGGGGTTTTTTTGTCTTTTTTTTTTTTTCTTTACAAATTAAAGGCTCATGGCATTGAACAAATTCATCAGTGCCATTTTTCCAGCAGCATGTGCTCACTTCATGTCCCTGTGTCCACAATTTTGATAAATCTCTCAATATTTCAGGCTTTCCATTATTACTATATCTGTTACGGTGATCTGTGATTAGCGATCTTTGATGTTCCTGTTGTATTACTAATTGTTTTGGGTGCCACCAACCATGTCCGTTTAAGAGGGCAGACTTAGTGGATCAATGTTGTGTGTGTTCTGACTGCTCCACCAACTCACCCCGTTCCCCTCTTCAACCCTCCCTCTGGCCTCCTTATCCCTGAGACACAATAATATTAAAATTAGGCCAATTACTAACCCTACAATGGTCTCTAAGTATTCACGTGAGAGGAAGAGTCACATCTCTCACTTTAAATCAGAAGCTACAGATGATTAAGCTTAGTGACGAAGGGATGTCAAAAGCCAAGATATGCCAAAAGCTAGGCCTCTTGTGCCAGTTAGCCAAGTTGTGAATGCAAAGGAAAAGTTTTTGAAGGAAATGAAAGGTATCACATGAATGACAGATAAGAAGACAAAATAGCCTTATTGCTGATATGGAGAAAGTTTTAGGGACCAAGATAGAAGATCAAGCCAGTGGCATCTTTAAGCCAAAGCTTAATCTAGAGCAAGACCCTAATACTCTTCAATTTTGTGAAGCCCTAGAGAGGTGAGGAAACTGCAAAAGAAAAGTTGGAAGCTAGCAGAGGTTAAAGAAAGAAGCCATCTCTATAAAATAAAAGTGCAAGGTGAAGCAACAAGTGCTAATGTAGAAGTTGCAGCAAGTTATCCAGAAGATAGTTGATGAAAGTGGCTACACTAAACAGATTTCCAACGTAGATGAAATAACCTTATGTTGGAAGAAAATGTCATCTAGGACTTTGATAACTAGAGAGAAGTTAGTGCCTGGCTTCAAAGCTTCAAAGGATGAGCTGACTGTCTATTTAGGGGTTAATACAGCTGATGACTTAAAGTTGAAGCTAATGCTCATTTACCATTCTGAAAATCCTAGAGTCCTAAAGAATTAAGCTAAATCTACTCTGCCTGTGCTGTATTAATGGAACAAGAAAGCCTGAATGACAGCACATCTGTTTACAGCCCTCAGGTTTACTGAGTATTCTAAGCCCACTGTTGAGACCTACTGCCCAGAAAAATAAAAGATTTTTTTCAAAGTGTTTTTTTCAGAATTTGAAAAAATATTTATTCCTGCTTATTGACAATGCACCTGGTCATCCAAGAGCTCTGATGGTCATAAAAAAGGAGATTAATGTTTTTATGTCCCCTAACACAAAGTCTATTCTGTACCCATGGATCAAGTAGTAATTTCAACTTTTAAGTCTTATTATTTAAGAAATGCATTGTGTAAGGCTATAGCTGCCATAGATAGTGATTCCTCTGCTGATTTGGGCAAAGTAAATTGATCACCTTCTGGAAAGGATTCACTGTTCTAGATGCCATTAAGAACAGTTGTGATTCGTGGAAGGAGATCAAACTATGAGCATTAACAGGAGCTTGGAAGAAGTTGATTCCAGCCCTCGTGGATGACTTTGAGGGGTTCAGAACTTCAGTGGAGGAAATAACTGCAGATACGGTGGAAATAGCAAGAGAACTAGAATTATAATTGGATCCTGAAGATGTTACTGAATTGCTGCAGTCTCATGACAAAAGTTGAATGAATGAGTAGTTGCTTCTTATGCATGAGCAAAGAAAGTGGTTTCTTGAGATGGAATCTACTCCTAGTGAAATGACAGTAATTATGTAAATATTACATAAACTTTAATTGATAAAGCAGTGGCAGGGTTTGAGAGGATTATCTCCAGTTTTGAAAGAGGTTCTACAGAAAGTGGGTCAAATGCTACCAAACAGCATTACATGCTCCAGAGAAATCTTTTGTGAAAGCAAGAGTCAATCGATGCAGTAAACTTCATTATTGTCTTATTTTAAGAAGTTGCCACAGTCACTCCAACCTTTAGCAACCACCATGATCAGTCAGTAGCTATCAACATTGAGGTACGACCTTCCACCAGCAAAAAGATTAGGACTTGCTGAAGGCTAAGATGATCATTAGCATTTTTTTAGCAATACAGTATTTTTAAATTAAAGTATGTACTTTTTTTAGACATAATGCTATTGCACACTTACTAGACTACAGTATAGTGCAAATATAACTCTTATATGCACTGGTAAACCAAAAAATTTGTGTGACTTGCTTTATTCTGTTATTTACTTTATTCCTTTGGTCTGGAACTGAACCTGCAGTATCTCCAAGGTATTCTGTACTGAGTCCCAGTTTTTTCTACAAAGGAAAGCAAAGTTGATTTTGGCTCTTAAAATGACAGATTTTAGAAATCTGAGTGTAATTTCATGTTAACTTTTCCATTTGACCATTGTCATGCCTTCCAG
Seq C2 exon
GTTCTAAGCGCTTTTCTCCTGCTGGCCTCCATCATCGTATGGCAGCAGAACTCAGTTATCTGAACGCCATTGAGGAGTCGGTGCGCCAACTGTCAGATGTAGAAAGAGTTAGAGGCATTTCACTTGCTCAGCAGGAGAGTGTGTCTCTAGCTCAGATAATAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837-CEP350:NM_014810:16
Average complexity
IR-S
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=1.000 A=NA C2=0.249
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
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
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