HsaINT0033797 @ hg19
Intron Retention
Gene
ENSG00000135837 | CEP350
Description
centrosomal protein 350kDa [Source:HGNC Symbol;Acc:24238]
Coordinates
chr1:180013186-180017840:+
Coord C1 exon
chr1:180013186-180013308
Coord A exon
chr1:180013309-180017670
Coord C2 exon
chr1:180017671-180017840
Length
4362 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAAG
5' ss Score
5.73
3' ss Seq
TTCCATGTATCCATAAAAAGAAG
3' ss Score
1.09
Exon sequences
Seq C1 exon
GAAAAGTCCATCTGTTTCACTCTCTCAGAGTAAAGAAGGGACCCTTGACTCAAAGCATCAGAAGTATTCTGCTTCATATGATAGTTATTCTGAGTCTTCAGGATACAAGAATCATGATAGAAG
Seq A exon
GTGAAGACAATTTGATTTCTTTGTCAGTACAGTTTAGTAGATTGTGATAAATGGCTTAAACATTGCTTTCTTTGATTTCTTAATCTTGTTTATTTAAATAGAACAGTGTGTGCCCTTCAAAGTGCTGGCTTCCCTAATTAGCCAATTTACAAAATAGTTGGTCCATGTAATAATGTAACTACTGTTCCTTGAGAACCTACATTGTACAAGCATTGTATAAATTGTTCTTCCTGCATTTAATATTCACAGCAGCCTTCCAAGGCAGATGGTATTATCCTTATAGGTTAGAAAACTGAGGCTCATGGAGATGTTACTATGCAGCCATAAAAAATGATGAGTTCCTGTCCTTTGTAGGGACATGGATGAAACTGGAAACCATCATTCTCAGCAAACTATCACAAGGACAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGAAACATCACACTCCGGGGACTGTTGTGGGGTGGGGGGAGGGGGGAGGGATAGCATTAGGAGATATACCTAATGCTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACATTGTGCACATGTACCCTAAAACTTAAAGTATAATAATAATAAAATTTAAAAAAAAAGAATAATTAAACATAACTCCAAAAATAAAATAATTGTTGATTATAGGAAAAAAAAAAAGAAACCCATTCAAGGTCACATAAATAATGATACATCAAGGAATTGCACCTTAATTTATCTGCCTTCAAAGGCTGTGTTTATTGCACATTTCCTTGCTGACATTCATATTTCTTGATGTTACAAATTTTTATTGTTATAAAAAATATTGAATAGGCCGGGCACAGTGACTCACGCCTGTGATTCCAGCACTTTGGGAGGCCGAGGTGGGAAGATCACCTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGCAAAGCCCCATCTCTACTAAAAAAACAAAAATTAGCCATGCGTGGTGGCGTGTGCCCATAATCCCAGCTACTCAGGAGGCTGAGGCATGAGAATCTCTTGAACTAGGGAGGCAGAGGTTGCAGCGAGCCAAGATCGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAGAAAAAAAAAATTGAATAGCTGTCATTGGTAGTTGGTGTGATATGAATGGCTATAGCTTTCAATTATGGTTCCATCTTGGGATTAGAAGATTTTAGAGGCTACTTTCCAGCATTTTTACAGTTAACATACTGACATTGTCAAGTATAGTAAAACCCCAATTTAAAAAATTAAATCATGAAACTAAAAGACATGAAAATGTGGGAAAAGTACCAAAAGTTATTGAGTAGCTATTATGTCTCTGAAACTATCTGATGTTCATTTAACCTTTACTGACACCTTCACTGAAACTTCATGTAAACCATCATCTGGATTACTATGGTGAACTCCTAATACTTGTCCTCATCCTCTAATCTTTCTCCACTCCATTAGCCACATGGTAACCAGAGTGATTTTTGTAAAATTTCTAGCCAATTTGGTTATTCACCTATTTGAAATCTTCAGTATCCCTCAGAATATTCAAATTAAGGTCTAAATTATTTAGCCTGGCATGAAAACTTTCTTTATAATTGAGCCTTTGGTCCATCTCTAGCCCCATCTCTTGGCATTTCCTCTCTTACTATACCCCACTCATTCTAACTATTTCCAGTTCTCTAGAAGAACCATGCTCTCTGTCTTCTGTGCCATTGCATATGATATACCTTCTTTCTAGACCATCCCACATCTCATTTCATTTAGTTTACTTTTACTTACCTTTCAAGAATCAGTGCTATCCCGTCTGCTTTAGCTCTCACCTAAGTGTTCTCCTACAGCACTGTGAGTATAGCTGTGATAGTCTTGACCACCCTATGTGTACATGTTTCTTTGTTAGTCAGTTACATTCTAGACTAGAAGCTCTTTGAGGGCTTCGTTTTCATCACCCCAGAAAGAAACTCAGTAACCATTAGCAGTTACTCCCTATACCCTCCTCTGGCAACCACTAATCTGTTTCCTATCTCCGTTCTCTATGGATTTGCCTATTCTGGATTTTTTATATAAATGGCATCATTACAGTATGTGGCCCTTTGTAACTGACTTCTTTCACTTAGCATGATGTTTTCAAGTTTCATGCATGTTGTAGCATGTATCACTACTTTGTTTATATGGCCAAATTATATTCTATTGCCTGGATATCCCACATTTTATTTATCCATTCATCAGTTGGTGGACATTTGGGTTGTTTCCACTTTTTAACTATTATAAGTAATGCTGTGAACATTCACATATAACCTTTTGTGTGGATATGTTTTCATTTCTCTTGAGTATATATTTAGGAATGGAATTGCTGGGTCATGTATGGTAGCTCTATGTTTAAATTTTTGAAGAATTGCAAAACTATTTTCCAAAGTAACTGCAGCATTTTATACTATTTTCCCACCACGTAAAATTTTTCTACAGTCCTCACCAATGCTTGTTGTTTTTTTTGTTATAGCCATCTTAGGGGGGACCATGCATACTTGTATCACCAGAACTTAGCAAAGTACCTAGCACACAGTAGGCAATCTACTACAAGTTTATTGAGTGAATGATTAGCATATAACTACTAATTGGTAGAATTGGGATTCAACCCCATGTCCTTCTGACTTGAAAGTCCCTACTGTGTGCTGCATTACATCTTTTACCTTATTGCTTTATTAGAAGATTTATGTTTTCAAAAACTTATTAAACCAAACAATTGCATTATATTCTGATAAGTACTGTCATAGAAATATACACAAAAAAACAGTATGAACACAGGGACAGAAGTGACCAAAGCTTCCTTGAGAGTTGGGGTGGGATCCATGGAGTTTCTTAGAAATAACACTTGAACTGATTCTTGAATTCCATAGGTCGTTAGGCAGACACAGCAGCAAGGGCATTTTGGAAGAGGAAATAAGCATGTGCTGAGGATCCTAAGTATATTAACCTGGCTTGTGTAATGAATGAATAAACCAAGAAATGTAAGGAGGAGAAAGCTTGGGGGAATATACGTTTCGTTTGTTGGCTGAGGAATAGCCAAAATCAGAAGTTCACATGGCATTTCAATACTTGAAGCTTAAAATCAAGGGAAGGGCAAAGATAATGATACAAATTTGAGGCTCACTCTAAATGATAGTAGTTGAAGTTATGGTTAAGATTGCCCAAGGAGAATATGTAATATAAAAGAGAAAGAGGGCCAGCATGGTGGCTTACATCTGTAATCCCAGCACTTTGGGAGACCGAGGCAGGTGGATCATCTGAGGTTAGGAGTTCAAGATCAGCCTGGCCAACATAGCGAAGCCCCATCTCTACTAAAAATACAAAAAAAAAATTAGCCAGGTGTTGTGGCACATGCCTGTAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCTCTTGAATCCAGGAAGTGGAGGTTGCAGTGAACCAAATTGTGCCACTGCACTCCAGCCTGGGCGACAGAATGAAACTCCTCAAAAAAAAAAAAAAAAAAAAAGAAAAGAAAAGGACCAAAACAGAACCATCAATTTTAAGGAAAGACAGAAAAATTTAAAGCAAATGAAAGAAACAAGGAAAGCTTGTTAGAGAGATGGGAAAAGCAGGTGAGAGTAAAATCATAGGATATAAGAAGGGAGGGCTCTTTTATTTAACATTTAATTTTGACATGATTTCAAGCTTATAGAAAAGTTGCAAGAATAATAGAAAGTCCTCAAATATCTTTCATCCAGATTATTCTAACATTTTACTACATTTTATTTAGCAAGTAGAGCTTTTAAAGAAGGAGATATGGTCAACATCTAATATTGCAAAGCAATAAATTATGTATTGGATTTGGCAATTCAAAGTATAGATTAAGCTTATTTAGAACAGTTTTAGTAGAGCAGTTGGGGTGGAAGCAGATTGTGATAAATCGTGATGTTAATGAAAAGTAAAGAAGTGGAAACAGTGAGTAGTAGCTCCCTTTCCCAGAAGTTTGATTTTGAAATGAAAGGAAAAAAGGGAGTGATAACCTAACAACACTGCCTATTATTATTATTTAAAAGTGAAACCTTCCTCTCTCCTACTCATCTTTCTCATCTTTTCCAATATATTCTCAGACTTATGTTACTTAGCTTTTTCTGTTTTATATTACATCTTTCTTCATTTTTATCTTGACTATAAAGTACAGTCATTTGGCCAAATAAGTTTACTTTGAAGCTATAATCCTTATTTTGTTAATTTTGTTGTTGTTGTTTCCATGTATCCATAAAAAG
Seq C2 exon
AAGTAGCAGTGGTAGCAGCCGCCAAGAAAGTCCTTCAGTTCCATCTTGTAAGGAAAATGAGAAGAAACTTAATGGTGAAAAGATAGAGAGTTCCATTGATGAACAGGTTCAGACTGCTGCAGATGATTCTCTACGAAGTGATAGTGTTCCATCTCTTCCTGATGAAAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000135837-CEP350:NM_014810:21
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=1.000
Domain overlap (PFAM):
C1:
PF095115=RNA_lig_T4_1=FE(28.0=100),PF0206410=MAS20=PD(42.6=70.7)
A:
NA
C2:
NO
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
- Genotype-Tissue Expression Project (GTEx)
- 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)