HsaINT0090817 @ hg38
Intron Retention
Gene
ENSG00000143418 | CERS2
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150967392-150967714:-
Coord C1 exon
chr1:150967664-150967714
Coord A exon
chr1:150967485-150967663
Coord C2 exon
chr1:150967392-150967484
Length
179 bp
Sequences
Splice sites
5' ss Seq
CAGGTATGA
5' ss Score
9.46
3' ss Seq
ACCTCTCTCTCCTCTCCCAGAGC
3' ss Score
11.75
Exon sequences
Seq C1 exon
AAACCCTGGTTCTATGACATGAAGAAAGTTTGGGAGGGATATCCCATACAG
Seq A exon
GTATGAGTTCTGCTTCCTCATGTGGGGGTGGACTAAGACACACCCTAGTGAAGAGACGGTTTGTGGAATCCATGGCAGAGGGATTAGAGTGATGGAATGAAGAACCTCAGGGGCTAGGGGGTTTGTGGAGTGGGGACACCCTTGCGGCTGGTTGCTCTTACCTCTCTCTCCTCTCCCAG
Seq C2 exon
AGCACTATCCCTTCCCAGTATTGGTACTACATGATTGAACTTTCCTTCTACTGGTCCCTGCTCTTCAGCATTGCCTCTGATGTCAAGCGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418:ENST00000368954:6
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=PU(10.5=85.7)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=FE(15.5=100)
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:
ACCCTGGTTCTATGACATGAAGA
R:
TTCGCTTGACATCAGAGGCAA
Band lengths:
140-319
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