HsaINT0090820 @ hg38
Intron Retention
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150966476-150966862:-
Coord C1 exon
chr1:150966756-150966862
Coord A exon
chr1:150966630-150966755
Coord C2 exon
chr1:150966476-150966629
Length
126 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGT
5' ss Score
10.1
3' ss Seq
CTCTCTCCTTGAATCCTCAGGAT
3' ss Score
9.61
Exon sequences
Seq C1 exon
TCAGCCAAGATGTTTAACTACGCGGGATGGAAGAACACCTGCAACAACATCTTCATCGTCTTCGCCATTGTTTTTATCATCACCCGACTGGTCATCCTGCCCTTCTG
Seq A exon
GTGAGTAGGCAGCTAGGCTACACTCCTGTTCTGAAGAAATCAGGAGCCTTGCCTTTCTTCCCCTCCTGTATCTCCCCGGTGTCTGACCTGCTCTTGTCCACGTTCTCTCTCTCCTTGAATCCTCAG
Seq C2 exon
GATCCTGCATTGCACCCTGGTGTACCCACTGGAGCTCTATCCTGCCTTCTTTGGCTATTACTTCTTCAATTCCATGATGGGAGTTCTACAGCTGCTGCATATCTTCTGGGCCTACCTCATTTTGCGCATGGCCCACAAGTTCATAACTGGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418:ENST00000368954:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.000
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=FE(18.0=100)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=80.8)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AACTACGCGGGATGGAAGAAC
R:
CCAGTTATGAACTTGTGGGCCA
Band lengths:
242-368
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