Special

HsaEX0035422 @ hg38

Exon Skipping

Gene
Description
ceramide synthase 2 [Source:HGNC Symbol;Acc:HGNC:14076]
Coordinates
chr1:150962958-150966288:-
Coord C1 exon
chr1:150966162-150966288
Coord A exon
chr1:150964274-150964563
Coord C2 exon
chr1:150962958-150963144
Length
290 bp
Sequences
Splice sites
3' ss Seq
GATCTCTCCCCACCCTTTAGGGC
3' ss Score
9
5' ss Seq
CAAGTAAGT
5' ss Score
10.08
Exon sequences
Seq C1 exon
CTGGTAGAAGATGAACGCAGTGACCGGGAAGAAACAGAGAGCTCAGAGGGGGAGGAGGCTGCAGCTGGGGGAGGAGCAAAGAGCCGGCCCCTAGCCAATGGCCACCCCATCCTCAATAACAACCATC
Seq A exon
GGCCTTTGGAGGTGGAGAAGGGATCCTGCCTGCTAGCACCACATTGGAAGGGATCATCTGGTCCAGAACCCCCATTTCTATCAACTAGGAGCTGGGGGGAGTAGCTAGCCCAGAGACTTCGGGTCAGGGTTCAACAATCAGGAAGACCCAGTTCCTGAGGAAACGACAGTTCAAGAAGGGTTGGGAAGAAGGCTGTCCTCTAAAGAAGACGTCCTCTGCATTCAATGGCCCCACAGCAACAGAGTAGCTCCTTGCCTTCCACACTGCCCACCTCGTAGTTGTAGTCCCAA
Seq C2 exon
GCTACCAGTCATGTTCTTCTTGTCCTCAAAGTCATCCCCTTCAGAGCCAGAGGATATGGTCTGGATATCATCACTGTCAACCGCTGTAGCCGAAGTCTGACCAGCAGTGGGCTTTCGGCTGGTCCCACTTTCCCCCTCACTTTCTGTGCTGCTGGACAGTGTCAGGACATCCTGGGGAAGCAGGAGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000143418-'31-36,'31-34,33-36=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

5' UTR

No structure available
Features
Disorder rate (Iupred):
  C1=0.475 A=NA C2=NA
Domain overlap (PFAM):

C1:
NO
A:
NA
C2:
NA


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGATGAACGCAGTGACCG
R:
GATGTCCTGACACTGTCCAGC
Band lengths:
293-583
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