HsaINT0090849 @ hg38
Intron Retention
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50135941-50137820:-
Coord C1 exon
chr12:50137728-50137820
Coord A exon
chr12:50136070-50137727
Coord C2 exon
chr12:50135941-50136069
Length
1658 bp
Sequences
Splice sites
5' ss Seq
AAGGTAAGG
5' ss Score
10.51
3' ss Seq
CTATTTCCATTCCTTCCTAGGAC
3' ss Score
10.09
Exon sequences
Seq C1 exon
CCTCTTTCAAGTGGGCTTTATCACTATTATATCATGGAATTGGCCTTCTATTGGTCCCTTATGTTTTCTCAGTTTACAGACATTAAAAGAAAG
Seq A exon
GTAAGGACGTTGGCTCCCTCAATTCCCCAACTTATTACATCCTCCTTTCTAGCAGCTTCCATGACTGCCATTACGATGTATTATCTTCCCTGAGACTGCAAAAGGAGAAACTGGGTTTGATGGACTCTTAGCTTGTCGTAATGTTCCCAGAAATGAGACTGAATTAATGATGAAGTATATTTAAGACATTCAGGGAAGCCCCAGGATGAGAACAATTAACCAGCTAAGAAGCATACTTTTTTCCATATTCTTCTTTAAGCTTCTTACATATCTAAAGCTCAGGAAACTAGTCAGAATTGGGGGATAGCAATGCCTTATTCAGAAAAAATGTCTGATTCCAGAAAAGCTGGATATGGCTTTCACATGGCATTAGGGACCCTTGCTCTCTCTGTTCTCCCTTTCTGGTTACCCCACTTACTCAAAGAAAGTCAATTGGAAGGGGTTTTGCTCTCTTCCTGCTATTGTTTAGGAAGCAAAGATTGAGAGAAGTGAGCTGACTTGCCCAGATAGTGACAGAGTTGGAAATGACTTAAGTTTTACACAACTTAAGTCATTTAAAGGCAGAATCTTTACCTTTTTATTAGTGTCTACCTGAAATAATGTGGTTCTAGCAGCTCTAACCCTAATCTGTCACTAACTCAGGGTTATCTTTGATGAAGAAAACCAGGGTTAGCATTTATGGGAATGAATTAAAACTTACCCAGGTTGTTAGTGTTATCTAACATAGAAACTTGATACTCAATTTTTATGCCTTTTACTCTCCTATGGTCAGAAGACACAGGTCACTTTATTAAAATTTTATTTTAATTGTGATACATATAAGAAAGTTTGAAATACATATTTAAGTTTTAAAAATAATAAACTGAGAAGTATTTAATAGATGTGTCTGATAACTCAAGTATTTAGAGACTTCCCCAGGTCTAACTTGACATTTGAACCCAAGAGGAAATTAGAGCCACAAACCTCTCCCTTCCATTAGGTCCTTGTGGTTGACGTTTCTCTCATTAAAGCAGAAGAGTCATAGAATCTCAGGGAACTCTAAGGCTTGTATGTCTTACTGGGATGTTATCCCCAAGTGTCAGCTTAGCATCCATGCTATACGTATTCTGCAGTTACCAAAGGAAATTTTTACTTTCTGGCCTCTGAGCTGCATTAACATAGAGTATGGGTCAGTCACTGATGTAGGGAGTGTTCAGTTAAATGCTAGGTAGCCAAGGGAGAGTCTAAGCAGAATGGAAACTTTTTTTTTTTTTTTGAGACGGAATCTCAGTCTGTCGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAACCTCTACCTCCCAGGTTTGAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACATGCCACCAAGCCCGGCTTATTTTTGTATTTTTAGTAGAGACGGGGCTTCCCCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCGACCACCTTGCCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCTCGCCCGGCCAATGGAAACTATTCTATATGGGGTGGGGTAAGATTCTTAGAGAATAATGCAGGACGTTGGGTTGGCTGGTGTTTCTAGGGCCCAGCTTTTACCTCCCTCTTCTATTTCCATTCCTTCCTAG
Seq C2 exon
GACTTCCTGATCATGTTTGTGCATCACTTGGTCACCATTGGGCTTATCTCCTTCTCCTACATCAACAATATGGTTCGAGTGGGAACTCTGATCATGTGTCTACATGATGTCTCAGACTTCTTGCTGGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:6
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=FE(15.5=100)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=PU(30.8=96.0)
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:
CCTCTTTCAAGTGGGCTTTATCACT
R:
CTCCAGCAAGAAGTCTGAGACA
Band lengths:
222-1880
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