Special

HsaEX0018299 @ hg38

Exon Skipping

Gene
ENSG00000167600 | CYP2S1
Description
cytochrome P450 family 2 subfamily S member 1 [Source:HGNC Symbol;Acc:HGNC:15654]
Coordinates
chr19:41194544-41201372:+
Coord C1 exon
chr19:41194544-41194709
Coord A exon
chr19:41198462-41198622
Coord C2 exon
chr19:41201231-41201372
Length
161 bp
Sequences
Splice sites
3' ss Seq
CCTGCCCCCATTCCCCCCAGGAC
3' ss Score
11.59
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
CTGAGTAAGAAGTACGGACCGGTGTTCACCATCTACCTGGGACCCTGGCGGCCTGTGGTGGTCCTGGTTGGGCAGGAGGCTGTGCGGGAGGCCCTGGGAGGTCAGGCTGAGGAGTTCAGCGGCCGGGGAACCGTAGCGATGCTGGAAGGGACTTTTGATGGCCATG
Seq A exon
GACGCCCATTCGATCCCTCCCTGCTGCTGGCCCAGGCCACCTCCAACGTAGTCTGCTCCCTCCTCTTTGGCCTCCGCTTCTCCTATGAGGATAAGGAGTTCCAGGCCGTGGTCCGGGCAGCTGGTGGTACCCTGCTGGGAGTCAGCTCCCAGGGGGGTCAG
Seq C2 exon
GAGGAACAAAACCCAGGCACAGAATTCACCAACAAGAACATGCTGATGACAGTCATTTATTTGCTGTTTGCTGGGACGATGACGGTCAGCACCACGGTCGGCTATACCCTCCTGCTCCTGATGAAATACCCTCATGTCCAAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167600_MULTIEX1-2/6=C1-4
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.073 A=0.000 C2=0.314
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(12.0=100)
A:
PF0006717=p450=FE(11.5=100)
C2:
PF0006717=p450=PD(13.5=27.1)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAGTACGGACCGGTGTTCAC
R:
CGTCATCGTCCCAGCAAACAG
Band lengths:
242-403
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development