Special

HsaINT0090848 @ hg38

Intron Retention

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50137728-50138617:-
Coord C1 exon
chr12:50138567-50138617
Coord A exon
chr12:50137821-50138566
Coord C2 exon
chr12:50137728-50137820
Length
746 bp
Sequences
Splice sites
5' ss Seq
CAGGTAGGA
5' ss Score
9.79
3' ss Seq
TACTTCTTTCTCTCTTCCAGCCT
3' ss Score
9.75
Exon sequences
Seq C1 exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
Seq A exon
GTAGGATCTGAGTCGTTTCAGGATAGGGGTCTTGAATGTGTATAAGGTGGAGTGAGTGAGGGTCCTTTGCCAGTCCCCAGGACAGATGGTGCGTTTCCTTGGGATTGAGGGATTAGGGACTGAGTCCCTTTAAGTCATATTCAGGGTATCTATTTTTTTTTCCCCCCCACTGCTAAGAGTCATATGAGGTATCTATTCCTGAGGCCCCCATAGCAATGAAATCCAATGAGTTTTTTGTTCTGATTTTCCCCATTTAATTCCCCCTAATTGGGCTAAAAGAAAAGCAAGTTTCTGGTATTTAATGAGGTACTTTCTGGTTCAGGTGTCTTTTTTGTATCAAGGGTAACTTGGAATCCCAGTAGAGCATCTTGGTTGTAACCTATACTGGAAATATGTCTAGGAACTGCTAAAGGGGTGGAAGAGAAGGCCTATGTGTATTTAATCCTGTGAAAAGCACTAATTGCCCAGAATCCTAGACATACTGATTTGATTGTGTTACAGTATGTGTTAACTGTATCTCATCTCTGCAAGATGAGAGCTGAAGATGTGTGTGCAGAGGAGCAAGGGAAGAGGCTTAAGTCTCTACACCAATCCAAAGTCTGTTAGCTATTGCATATCTTGGCAGATAATGGGGAGGAGAGATGTCTAATAATTTGGGGTATTGGTCCTCCAAGGCAGAGAAAGTTGGAGAGATGGAATGCACCTTTGACTAGCCGGTAATCTAACTACTTCTTTCTCTCTTCCAG
Seq C2 exon
CCTCTTTCAAGTGGGCTTTATCACTATTATATCATGGAATTGGCCTTCTATTGGTCCCTTATGTTTTCTCAGTTTACAGACATTAAAAGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:5
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(15.1=82.4)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=FE(15.5=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
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