Special

HsaINT0090839 @ hg38

Intron Retention

Gene
Description
ceramide synthase 4 [Source:HGNC Symbol;Acc:HGNC:23747]
Coordinates
chr19:8255607-8255879:+
Coord C1 exon
chr19:8255607-8255725
Coord A exon
chr19:8255726-8255821
Coord C2 exon
chr19:8255822-8255879
Length
96 bp
Sequences
Splice sites
5' ss Seq
CAGGTAAGC
5' ss Score
9.88
3' ss Seq
AGCTCCCTCCCCATCCACAGCTG
3' ss Score
8.11
Exon sequences
Seq C1 exon
CCCCAGCTGTCTCTCCTGGCCGCCCAGTGTGGCCTCACGCTGCAGCAGACCCAGCGATGGTTCCGGAGACGCCGGAACCAGGATCGACCCCAGCTGACCAAGAAGTTCTGTGAGGCCAG
Seq A exon
GTAAGCCCAGGATGGGGCTTCTGGGGTGCAGGGAAGCGGGCCGGGGTGGGGCGGGGCGGGTGTCTGCTATTTTCACAGCTCCCTCCCCATCCACAG
Seq C2 exon
CTGGAGGTTTCTCTTCTACCTGTCCTCCTTCGTGGGCGGCCTCTCGGTCCTGTACCAC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000090661:ENST00000251363:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.003 A=NA C2=0.000
Domain overlap (PFAM):

C1:
PF0004624=Homeobox=PD(51.8=72.5),PF0379811=TRAM_LAG1_CLN8=PU(2.6=12.5)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=FE(12.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
ALTERNATIVE
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCCAGCTGTCTCTCCTGG
R:
GAGAGGCCGCCCACGAAG
Band lengths:
164-260
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