HsaINT0090852 @ hg38
Intron Retention
Gene
ENSG00000139624 | CERS5
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:HGNC:23749]
Coordinates
chr12:50129798-50134702:-
Coord C1 exon
chr12:50134546-50134702
Coord A exon
chr12:50130695-50134545
Coord C2 exon
chr12:50129798-50130694
Length
3851 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
TTTGGTCTCATCCCACCCAGGTA
3' ss Score
7.37
Exon sequences
Seq C1 exon
GATTCTGAACACGACCCTCTTTGAGAGTTGGGAGATAATCGGGCCTTATGCTTCATGGTGGCTCCTCAATGGCCTGCTGCTGACCCTACAGCTTCTGCATGTCATCTGGTCCTACCTAATTGCACGGATTGCTTTGAAAGCCTTGATCAGGGGAAAG
Seq A exon
GTGAGGATGAAAGATGGCTTCTTTCTTTTGGGTATGGAAGATAGGGATTACTCAACAGACGTTCTCTCTCCATCAAACCTGGTGAGCCCCATCTACTCAAGCAGGCCAAGCAAAAAGCCTAGGGCTCCAAAGTCTTCGCCTCTTCGGTAAGTGTTTTGCCTTTTTTATTTTAGAGACAAGGTCTTGCTCTGTCACCCAGGCTGGAGTTCAGTGGCATGATCATAGCTTACTGCAGCCTCACACCTGGGCTTGGATTCTCCCACTGCAGCCTCCCAAGTAGCTGGGACTATAGGTGTGCACCACCACGCCTGGCTAATTTTCTTATTTTTTGTAGATAGGGTGTCACTATGTTACCCAGGCCAATGTCCAACTACTGGCCTCAAGCAGTCCTCCCACCACGGCTTCCCAAAGCGATGGAATTACAGGTGTGAGCCACCACACCAAGCCTGTTTTACCTTTTTTTTTTTTTTTTTTCAGATGGAATCTCGCTCTGTTGCCCAGGCTGGAGTGCAATGTCACGATCTTGGCTCACCACAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCGCATGCCACCAGGCCTGGCTAATTTTTGTATTCTTAGTAGAAACGGGGTTTCACTATGTTGGCCAGGCTGGTCTCTAACTCCCGACCTTGTGATCTGCCCACCTTGGCCTCCCGAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCTGCCTGTTTTACCTTTTAAGATGTGACTTAGACGCAAGAGGAAAGTTCTACCTTCTTCCTGTCCCTTAGGAATGGCTTTTGTTAAAGGATGATAGGGTTAAGAGTTTTTTAAGAGATGGCCTCAACCATTTCCTACCCCTTACCTACCTGCTTCAGTGGATTTCATATTTTTCTTTTTGACATGGGGCCCTTTTCAAAGGAAATCATATGCAGAACCATATAAACTGTATAAAAGCAGATTGTTAAGTTGCCTAGAAGTGGTGTGTGGTAGTTCACAAGCCACCACAAGGTGACCATGCTGTGATATTCAAGATATGGTTTATATAAGGAACTAAATACCCACCTCACCCCACTAGTGTATGAGGCAAGTGTCCTAAGTGAATGGGTATGTAGTGTTTCAAATACCCATCTTATGCCAAGAGCGAAAGAAAGGTGCCACTTAATGATAAACTCATAATTGAACTTTGCAAGTTTTGAAGCAGTCAGACTGTAGTCAAAGGGCTAGGGATTTCAGCCTAAAGGAATACAGAATCCCAAGTGGGAGGGGCTCTGCTTGAGCAGGTACTGATACTAGGACCAAGTGATGGAATGTGGCCTAGATATTGATGATCTCCTGCATCATTATTCCTTATAGCTGCCATTGGCTCAGAACTTGCTCAGTGTGCCTGTGCATCTTGCTGTAGCTACTGGACATCTCTGTTCTCTCCTGCTTTTCTTTCCTGACTAGGTGACCTGTCCAGGAAGGATTAGACCCTGTACTCTCCACTCTTTCCTCACCTCCTTCCTTTTTTCTATGCCTGGCGGGAGCTGGACAGTTTCATCTCTTGCATGTAAGTGTATCTGTGCTTCTAGTATTCAGTGAGGCATGTCCATCTGAATGTGGTTCTCTTTCCTCCTGCTCTCCTTTCTGTTCCCTTGTGTTTGTCTCAGAGCATGCCCTCTCTCCTGACTTTTCGGGGCCATTATTGACTAGAGCTGCAGTTGCCAGATTTTTTCCTAAACTGAGGCAAGAATTGAGTCTACTTTTTTTTGTTTTTCTTGAGTCTCTGTTTACCTCAAATCTAGAGACACTCTGCCCTCTAGTGGAAATTTCCTAAAGGTCAGGTAATCAGTTAGTCATCTAAGTTCAGAGGCCAACAGCTATAATCAACTGTAGAAGACCCATCCAACACAAATTCAAGGAGCTGATCCAAAGCAAATGCCCACCTCCTTGGCAACAGTTGTTACAGCTGTGTTCCTTTTCACTTCCTTCTCTCCTTTACTTAAACCACATTTATTATCCTTCAGTTCTGGAGGTCAGAAGTCCGACACAGGTCTCACTGGATTTCTGTTCTTTACTATTAGAGTCCAGGGTAATTTTTTTTTTTTAATTTTTATTTATTTATTTTTGAGACAGAGTTTAGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCGTGATCTTGGCTCACTGCAACCTCTGCCTGCCCAGTTCAAGCGAGTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATACGCCACCACGCCTGGCTAATTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTTCATGTTGGTCTGGCTGGTCTCGAACTCCCGACCTCAGGTGATGCGCCCACTTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCATGCTCGGCCCTTTTTTTTTTTAGAGACAAGGTTTTGCTCCATTGCCCAGGCTGGAGTACAGTGGCGCAATCATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGAGATGCTCCTGCCTCAGCCTCCCAAGTAGCTAGGACTACAGGTGCATGTCACCATGCCCAACTGATTTTGTCATTTTTTATTTTTTGTAGAGACAGGGCTCTCTCCATGTTGCCCAGGCTGGTCTCAAACTCTTGGGCTCAAGCTGTCCTCCTCCCTCAGCCTCCCAAAGTGCTAGGATTATAGGTGTAAGCCACTGTGCCTGGCTCATGGTGGAGAAATTGAAATACTTTGCTTGATATGCAGGATAGTTTAGATTAGGAAATGCTGCTGTAATCCAAATGCTTCATTTGAAAATAATACAAAACAAAAAAACCCAGGTTAATAAGCATTCACAGATGGTAGCATGATTAGAACTGGGATTCTTTTCTCATTGACTGCCAATCCATTTGTGTTTTCACTATACTGTGTATCTTGGGGATGCTGAAGTTTCTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCACGCTGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCACCTCCGGGGTTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCGCGCCACCACACCCGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATGTTGCTCAGGCTGGTCTCAAACTCCTGACCTTGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACGCCCAGCCAGGGATGCTGAAGTTTCATAAGAAAAGTGATCTTGCTATTGGGAAAGGGAAGAAGATTGGAAAACAGTGTCATAGGATAGTGGTAGTTGAGCCCAGGAGTGGGAAACTACTAAAAAAGGCCTGTTATGGATCAGCTTTGGGGATAAAGCAAAACAGCATAACCAATACGAATAAATGCATTGTCCACAACCACCAGAAGATAGAAGCATTGCTGACAGTCATACGTATTGTTCGTGTTGGCCTTCCCTGTTCTTTGAAGTGGAAGAAGAGAAAGGGTGTCTGAAACCTAAACCAGGTCTCAGTGAATGATGTCAGTTCTCTTAGGCTGGTCCTGAAAGACACACTCCTCTACCAAAGTAGCTTCAATTCCACAGAGAACAGAATTGGAGATGACAAGGGAGAAAACTAGAAAGCAGGTAAAGCATAGTCACAACAGTAGCCATAGTCCAGACAATACTTCTTTGAGTTAGATGTCATCAGAAAGCAGACCAGACTGGGAACACAGTGCCCACACCTGGGTCTCTGAGCTTAGGTGTCTTACAGTTCTTTCCTCACTTTTCTGTCTTTGGTCTCATCCCACCCAG
Seq C2 exon
GTATCGAAGGATGATCGCAGTGATGTGGAGAGCAGCTCAGAGGAAGAAGATGTGACCACCTGCACAAAAAGTCCCTGTGACAGTAGCTCCAGCAATGGTGCCAATCGGGTGAATGGTCACATGGGAGGCAGCTACTGGGCTGAAGAGTAAGGTGGTTGCTATAGGGACTTCAGCACACATGGACTTGTAGGGCCACTGGCAACATACTCCTCTTGGCCCTTCCCATATCTACTCTTCTGTGATTGGGAGACTGCAAGGCACTGAGGAGTATCAAAGAAGCAAATATTTTCACTTTGAAAGAAAACTGCCATTTTGTATTTAATAGCCTCCAGGTTCTTTCAGTAATGTTATTTGCTCTGTGTGTTTTTGTGTGTTTGTTGATGTGCGTTTGTGCATATGCGTGAGTTTCATTGCCGGGGTTGGGGCACAATTGTGGACTGGGGCCATGAGGCCTTCCCTGGTCCCCACTGAACCCACCTTAGTTCCACATTTGGCTGCATCTTGAATTATGCCAACTCCAGACTTCTCCTTCTTTTTTGCCCTTGGCTCTTGACACTCTAAACCCCTGGACCATCTGAATGGAGCAGCCAAGTTCAGTCCCACATTTCTGTACTGTTCCTCTTTCACAGCTGGAATATGTCACATGATGAAGTTGTATAGAAACAGAACCATGGATGGATGGCCAGGATTGCCGTGGTCCCTAGCTAGATCCCCTTCCTATCAATCACCTGATAGCAACAGGGACAGCTGCCAATACCCTGCTCTTTACTCAATGGTACCCAGGGAGGGAGCATGGGAAGAGGGTGAGCTGAGGGCTGGAGGAGGGCAACAGCCACTGGGTGAGCTGTTCACGGTCTTATACTATTGTTTGTTTGTGATTAAAAGTGCTTCAACCCA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000139624:ENST00000317551:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.321
Domain overlap (PFAM):
C1:
PF0379811=TRAM_LAG1_CLN8=PD(21.6=79.2)
A:
NA
C2:
PF0379811=TRAM_LAG1_CLN8=PD(21.8=89.5)
Main Inclusion Isoform:
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
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development