HsaINT0090846 @ hg38
Intron Retention
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50142053-50143204:-
Coord C1 exon
chr12:50143074-50143204
Coord A exon
chr12:50142111-50143073
Coord C2 exon
chr12:50142053-50142110
Length
963 bp
Sequences
Splice sites
5' ss Seq
CATGTAAGT
5' ss Score
8.31
3' ss Seq
TTTACTCTTTGCCCACCCAGGTG
3' ss Score
9.31
Exon sequences
Seq C1 exon
TATCCTGATAAGAAAAGGCTGGAGGGCCTGTCAAAGCAGCTGGATTGGAATGTCCGAAAAATCCAATGCTGGTTTCGCCATCGGAGGAATCAGGACAAGCCCCCAACGCTTACTAAATTCTGTGAAAGCAT
Seq A exon
GTAAGTACGCAAGGAGGGAGGGAGGGAATAAGGAAGACGGTGGGATACAACTGGACTGAAGTTTCTGTTTTGAACATCACTTCTGTTGTTAGGACAACAGTTAATGGATATAGAGAACTAACTCAGCCTATTATAGGTAGGAAAGAAGGGAACTGGAACACTGATTCCCTTAAGTTTCTTGGGCATGTTGCCACTAAGCTAGGTGTGGTTCTATTTTGTTCCCTTTTCCTAAATAGATTGGGAGTAAATCCTTATAACTGTACTTATGTAAGTAGATGTACTAACACATGTATACCTTAATAGAGGGAGTACTAGCTTGCTTGCTATAAGTTGACAATTTTTAGGAAGCATTCCTTTTCTGGGAAATACTATTTTTCATTTTATTGAGCTTTTTCTCATTATCCTGTCTGTGAGCACTGTATTAGTAATTGTCATGTAAAGAAAAATGCTAGGGAGTCTGATGATACAGCCTAATATTTTCCTAATGAAAGATGACGCTGCTTTGGCTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGACTGGAGTGTAGTGGCACAGTCTCTGCTCACTGCAACCTCCGCCTCCCATGTCCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCACGCCACCATGCCCAGCTAATTTTTGTATTCGTAGAGACAAGGTTTCACTATGTTGGCTAGGATAGTCTCGATCTCTTGACCTGGTGATGCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACTCCTGGCCCCTGTCTTTGGCTTTTTAAATGACAGTAGTTGCCTATTCTAGGAATTGATCCTCTTTCTCACCAGTAACTCTTATCCCCAAATTTGCTATCTTGACTTCCGTAGCCTCAGAGGCTTTGGTTTGAGTGGACATTTGTCTAACCTTTACTCTTTGCCCACCCAG
Seq C2 exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:3
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:
PF0004624=Homeobox=PD(62.3=75.0),PF0379811=TRAM_LAG1_CLN8=PU(2.6=11.4)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=FE(12.6=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:
TGATAAGAAAAGGCTGGAGGGC
R:
CGACCAGAGAAATCTAATTCCATAGC
Band lengths:
184-1147
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