Special

HsaINT0090849 @ hg19

Intron Retention

Gene
Description
ceramide synthase 5 [Source:HGNC Symbol;Acc:23749]
Coordinates
chr12:50529724-50531603:-
Coord C1 exon
chr12:50531511-50531603
Coord A exon
chr12:50529853-50531510
Coord C2 exon
chr12:50529724-50529852
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-LASS5:NM_147190:6
Average complexity
IR-S
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


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
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