HsaINT0090847 @ hg38
Intron Retention
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50138567-50142110:-
Coord C1 exon
chr12:50142053-50142110
Coord A exon
chr12:50138618-50142052
Coord C2 exon
chr12:50138567-50138617
Length
3435 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
3' ss Seq
GATTATCTGTTTTCTCTTAGTCA
3' ss Score
6.87
Exon sequences
Seq C1 exon
GTGGAGATTCACATTTTATTTATGTATATTCTGCTATGGAATTAGATTTCTCTGGTCG
Seq A exon
GTGAGTCTTAACTTTCTCTAGTCCTCTGTTGGGTTCTAATCATGCCTAGATCTCTAGAAGTAAGAGTTAAATACCTTTAGATTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAAGCTGGAGTGCAGTTGTGGAATCTCAGCTCACTTGCAACCTCTGCCTGTTGGGTTCAAGAGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCACATCACCATACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTTCAGGCATGAGCCACTGAGCCTGGCCTAAATACCTTTAGATCTTTATATTTCCCCCAACTTTTCCTCTGTGATGCCCACAGCCCAGGTTTATATCCTAATAGATTGTCTTCTGTCTGGGGCCTGACTTCAGTAACTTTATAACTTTACTGCTTCTCCCCTAGAAGATACTAATAATACTAGTAATAACTAAATCAGCATAATACTTAATGGTTTACAAAGCACTTGACAAAAATTGAAGGAGGAGAAATGGAATAAACCCTTTAAAGTGGGTGAAACAGGTATTATTCCTACTTTTTAGTTAATTGTCAGAATCAAAGAAGAATTTCAGGGGGCCAGGCACAGTGGCTCACACCTGTAATTTTAACACTTTGGGAGGCCAAGATGGGCAGATCATTTGAACCCAGGAGTTCAAGACCAACCTGGGCAACATGGTGAAACCCCGTCTCTACAAAAAGCTACAAAAATTAGCCTGGCGTGGTGGCGTGCACCTGTAGTCCCAGCTACTCAAGAGGCTAAGGTAGGAGAATCGCTTGAGCCCAGGAGGTCAAGGTTGCAGTGAGCCGTGATGGAGCCGCTACATTCCAACCTGGGTGACAGAGCAAGACTCTGCCTCAGAAAAAGAAGGAAGAAGAATTTTAGGCTTTTTGATTCTTTAGTTCATGTTTTTTTCCCCATACCATACTGTTTCTCTCTAAATGATATCATTGTGTTTTCAAAATATTATAGACAAAAAGCTGGCAGAACTAAAGGAAGAGAATAGACAAATATACAGTTGTATTTGAAGATTTTAATACTTTTCTCTCAGTAATTGACCTAAACCCTAGGCAAAAAAAAAAAAAAAATCACTAAGGGTGTAAAAGATATGAATGACATGATCAACCAGTTTTACCTTATTGACATTTATAAAACACTACACCAACAGCTGAAGAATACATATAATTTTCAAGTGCATGTAGAAAGATAAACTAATGCTGGGCCATAAAATAAGTCTCAGTAAATTTCAAAATATTGAAATCTTAAAGAATGTGTTCTCTGACCATAACGGAATTAAATTACAAGTCAATTGTAATGAGAGACATGGAAAACATTTGGAATTCGCCTGCATGAGGTTGCTCACACCTGTAATCCTAGCACTCTGGGAGGCTGAGGCAGGCAGGTTGCCTGAGTTCAGGAGTTCAAGACCAGCCTGGGCAACAGGGCAAAACTCTATCTCTACTAAAAATACAAAAAATTAGCCGGGCATGGTGGCACGTGCCTATAATCCCAACTGCTGGGGAGGCTGAGGCACGAGAATCGCTTGAACCTTGGAGGCAGAGGTTGCAATGAGCCAAAATCATGCCACTTCACTCCAGCCTGGGTCTCTGTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAATTTGGAAGTTAAACAACTCTTCTCAATAACCTGTGGATCAAATAAAAAATCACAAGAGAAGAAAATATTTTTAATTGAATCATGCTAAAAATCATATCAAAATTTCTGGGATACAGATAAAACATACTTAGAGGGAAATTTATAGCTTTAAATGTTTATATTACAAAAGGTTTAAAGTTGATCTAAATTTCTGCTTTAGGTTCTTGAAAAAGATAAGCAAAATAGGTTAAAGTAAGGAAATAATAAAAAATAAGCAGAAATTGGCCAGGCGTGGTGGCTCACCCCTGTACTCCCCTCACTTTGAGGCTAAGGTAGGAGGATCACTTAAGCCCAGGAGTTCGAGATCAGCTTGGGCAAGATGGCGAGATCCAGTCTCTATAGTGAGACCCCATTTCTAAAAAATGATAATAAAGTAAGTAAGTGGAAATTAATGTAATAGGCATTAGAAAAACAATGGATACATTTGTGGGGTTTTTGTTTGTTTGTTTGTCTGAGACAGAGTCTCACTCTGTCTCCCAGGCTGGAGTGCAGTGGTACAATCTCGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTGTCCTGCCTCAGCCTTCCTAGTAGCTGGGACTACAGGAATACGCCACCAGGCCCAGCTAATTTTTGTATTTTTGGTAGAGACAGATTTTCATCATGTTGCCGGGCTAATCTTGAACTCCTAACCTCAGGTGATCCTCCCACCTCGACCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTGTTTTGTTTTGTTTTGTTTTGTTTTTTAAAGACAGGGTCTTACTCTGTCACCCAGGCTGAAGTGCAGTTGCGTGATCACAGCTCACTGCAGCCTCAACTTCCCAGGCTCAGGCAATGCTACCACCTCAGCCTCCCAGGAAACTTGGGACTACAGGCATGTGCACAACCACACCGGGCTAATTTTTGTATTTTTTGTAGAGATGGGGTTTTACTCTGTTGCCCAAGTTGGTCTTGAACTCCTGGGCTCAAGCAATCCACCCACCTCACCCTCCCAAAGTGCTAGGATTAACAGGTGTGAGCTACTGTGCCTGGCCATGGATAAAATTAATAAAGCCAAAAGTTCATTCTTTGAAAGGTTTGATTAAAATTGACCAACTCCAACAAAAAAAGGAAATATGAATTATCAATATGGAAAGGGTTATCACTACAGATCCTATAGTCATTGAAAGGATAATAAGACAGTATTATGAACAATTTAATGATAAGAAATCCAGCAGCAAAGATGATGTAGACAAACTCCTTAAAGGACATAATCATTATTCCATTAGAGATGATTACTTTTGACTTCTGAACATGGCATGGAGATATCTTTCTTGGTTATCAAATGAATCATTGTCTTCCTGTATATATATTCCAGGTAGTGATATTTCCTAAAACTAGCCTAAAGCTCTCACTGTTCTTATTTACCTCAAAGCATTGTTTTTCTATTTATAACATTCTGTTGTAGAAGAACAGTCTAGCTATTTATTGATCCTTTAGGGAGCCCTAAAATCTGTTTGGGGGCTTTTCTGTCCTCTTTTGCCCCAGCCTAGAGAGAAGGGGATTATATGAGGTAGATCTTGAAGCCAGGTGAGAATCTTGAGGACTGACATGGATTATCTGTTTTCTCTTAG
Seq C2 exon
TCACCTTGGTTCTGGGACATCCGACAGTGCTGGCATAACTATCCATTTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:4
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(12.6=100)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=PU(15.1=82.4)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
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
- Autistic and control brains
- Pre-implantation embryo development