HsaINT0090838 @ hg38
Intron Retention
Gene
ENSG00000090661 | CERS4
Description
ceramide synthase 4 [Source:HGNC Symbol;Acc:HGNC:23747]
Coordinates
chr19:8254499-8255725:+
Coord C1 exon
chr19:8254499-8254616
Coord A exon
chr19:8254617-8255606
Coord C2 exon
chr19:8255607-8255725
Length
990 bp
Sequences
Splice sites
5' ss Seq
GAGGTGAGA
5' ss Score
7.66
3' ss Seq
CCTCATCACCCCCTCCCCAGCCC
3' ss Score
6.83
Exon sequences
Seq C1 exon
ATTCATTGGCCTGCCCCTGAGCCGGTGGCTGGGTGTGAGGGATCAGACCAGGAGGCAAGTGAAGCCCAACGCCACGCTGGAGAAACACTTCCTCACGGAAGGGCACAGGCCCAAGGAG
Seq A exon
GTGAGAGCCCCCCATGCCCTCCGACCCGCACTACTGCCCTGGGGGTGGGGCGTGGGGATGGTGTGTGGCCCATTTGTTGGGGCAGGAGAAGCCAAGGTGGCTGCAGGCACCCCTGCAATGCCCCTACTTTCCACTCTTCATCCTCAATTCCCTGGGAAAGGGCTCTACCCCCCAGCCTCCCTGGGAAACGACGCCCCACCCCTCCCAGCATCCCTGGGACATGGAGCCCCACCCTTCCAGCCTCCCTGGGAGATGAGGACCCCCCCCTTCCCAGCCTCCTTGGGAGATGGGGCCCCTCCCCTCCCAGCCTCCCTGAGCCTTAGTGGGCACAGTTGCACAATGGACAGATTCTAGGAGAGTGAGAGTAGTTGCTTGCTCTCCTATCCTGGGGAGGAATGGAAGGTCTGAGCTGATAGGGAATGGAGTAACAGAAGCAGCCCTGTGACCCTCCCTCCATTCCCGTCTCTGGTGTGGCTGCCCGCTGGACAGGGTCTGTGCTGTGGAGGCGTGGCTGCGTCCTGAGTGGGGTGGGGAATGGTGAAGACCACATACCCTAGAGGCGACAGGGCAGCTTCCGCAGAGCTAGACGTGACTCCCCCTTTACTTGTCAATTTCCCTCTTCAGGTAGGGCTTGGGGCTGGGGCAAGGTCTCAACTGCCTGTCTAGGTTGGAGGTGAGAACTGACCGTTCTGGAGGGACGCAGGGAAGCCTATCCGGGGGTAGGGGATGCTGCACGCCAGCATCTCTCTTAATCCCATCCCCGTCAGCGACCTGCCTGCCCTATGAACAGGATTTGCTTCTCTTAGGGCCCAAGTGTTCTGCAGGGCCCCACGCTGGGACCCCCAACACTGCCCCTCCATATAGACATGGTCACCCTGTAGGCAAGATGTGGGCCTGCAGTGGAGAGGGCAGAGCCAAGTCCTGTCTGGGGACATGGGGGAAGCCACCACAGGGCCTCTGTGACCCTTGTCCTCATCACCCCCTCCCCAG
Seq C2 exon
CCCCAGCTGTCTCTCCTGGCCGCCCAGTGTGGCCTCACGCTGCAGCAGACCCAGCGATGGTTCCGGAGACGCCGGAACCAGGATCGACCCCAGCTGACCAAGAAGTTCTGTGAGGCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090661:ENST00000251363:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.045 A=NA C2=0.003
Domain overlap (PFAM):
C1:
PF0004624=Homeobox=PU(44.6=62.5)
A:
NA
C2:
PF0004624=Homeobox=PD(51.8=72.5),PF0379811=TRAM_LAG1_CLN8=PU(2.6=12.5)
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:
ATTCATTGGCCTGCCCCTGAG
R:
GGCCTCACAGAACTTCTTGGT
Band lengths:
235-1225
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