HsaINT1007297 @ hg38
Intron Retention
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150968395-150969091:-
Coord C1 exon
chr1:150968918-150969091
Coord A exon
chr1:150968513-150968917
Coord C2 exon
chr1:150968395-150968512
Length
405 bp
Sequences
Splice sites
5' ss Seq
GCTGTAAGC
5' ss Score
4.47
3' ss Seq
TACTCATATCCCTTCCCCAGGTA
3' ss Score
9.15
Exon sequences
Seq C1 exon
GATGCTCCAGACCTTGTATGATTACTTCTGGTGGGAACGTCTGTGGCTGCCTGTGAACTTGACCTGGGCCGATCTAGAAGACCGAGATGGACGTGTCTACGCCAAAGCCTCAGATCTCTATATCACGCTGCCCCTGGCCTTGCTCTTCCTCATCGTTCGATACTTCTTTGAGCT
Seq A exon
GTAAGCATGCCAGCCTACCCTCATGCCTTCCCCTGTTGCCAGTTGCAGTTTCTTGGACTTCAAGTTTGTTCCTTGCTGTTTAATTAGCCCTTGACCCTGATGTTCTGGCTACTCAGGTTCCTGCCCACTGTGCACCCCCTCCCCTGAAGGCACCATTGTCTTCCTGAAGGCTCAGCACCCCCAGGCCCTTTCCATCAATGGTTATTTGTTCTCACCCTCTACCCGCCGCCCGCCTGGCCACTAGTGAACACACAGGCAGCTTTGTCAGCTGTGGGCAGCCCTGGAGGCTAGAGAAAAGGGGGTTGCCAGGAAGCTGGGGAAACTGAGGCCAGGGTAAAGTTGCCTTAGCTTGCAGCCCTTTCCCTTCCCAGCAAGCTAGATACCTTACTCATATCCCTTCCCCAG
Seq C2 exon
GTACGTGGCTACACCACTGGCTGCCCTCTTGAACATAAAGGAGAAAACTCGGCTGCGGGCACCTCCCAACGCCACCTTGGAACATTTCTACCTGACCAGTGGCAAGCAGCCCAAGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418:ENST00000368954:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0004624=Homeobox=PU(46.6=67.5)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGCTCCAGACCTTGTATGA
R:
GCTTGCCACTGGTCAGGTAGA
Band lengths:
281-686
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains