Special

HsaINT0090850 @ hg38

Intron Retention

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50135732-50136069:-
Coord C1 exon
chr12:50135941-50136069
Coord A exon
chr12:50135839-50135940
Coord C2 exon
chr12:50135732-50135838
Length
102 bp
Sequences
Splice sites
5' ss Seq
GAGGTAAAA
5' ss Score
7.3
3' ss Seq
TTCTTTCTTCCTTTCTCCAGGCA
3' ss Score
11.27
Exon sequences
Seq C1 exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
Seq A exon
GTAAAAACCCAATCTCTCTTTCTCCATCTTCTTCTTCTCTTCTTTTCTTCCTATGTGAGGAATGACTTTCTCCCCAGCTCAATTCTTTCTTCCTTTCTCCAG
Seq C2 exon
GCAGCCAAACTGGCCAATTATGCCAAGTATCAGCGGCTCTGTGACACCCTTTTTGTGATCTTCAGTGCTGTTTTTATGGTTACACGACTAGGAATCTATCCATTCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:7
Average complexity
IR
Mappability confidence:
NA
Protein Impact

Alternative protein isoforms

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

C1:
PF0379811=TRAM_LAG1_CLN8=PU(30.8=96.0)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=PD(22.5=94.4)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTCCTGATCATGTTTGTGCA
R:
CAGAATGGATAGATTCCTAGTCGTGT
Band lengths:
235-337
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