Special

HsaEX0018301 @ hg38

Exon Skipping

Gene
ENSG00000167600 | CYP2S1
Description
cytochrome P450 family 2 subfamily S member 1 [Source:HGNC Symbol;Acc:HGNC:15654]
Coordinates
chr19:41194544-41203637:+
Coord C1 exon
chr19:41194544-41194709
Coord A exon
chr19:41201231-41201372
Coord C2 exon
chr19:41203450-41203637
Length
142 bp
Sequences
Splice sites
3' ss Seq
CTCTGCCTGGTTTCTTTCAGGAG
3' ss Score
10.18
5' ss Seq
AAAGTAAGA
5' ss Score
6.91
Exon sequences
Seq C1 exon
CTGAGTAAGAAGTACGGACCGGTGTTCACCATCTACCTGGGACCCTGGCGGCCTGTGGTGGTCCTGGTTGGGCAGGAGGCTGTGCGGGAGGCCCTGGGAGGTCAGGCTGAGGAGTTCAGCGGCCGGGGAACCGTAGCGATGCTGGAAGGGACTTTTGATGGCCATG
Seq A exon
GAGGAACAAAACCCAGGCACAGAATTCACCAACAAGAACATGCTGATGACAGTCATTTATTTGCTGTTTGCTGGGACGATGACGGTCAGCACCACGGTCGGCTATACCCTCCTGCTCCTGATGAAATACCCTCATGTCCAAA
Seq C2 exon
AGTGGGTACGTGAGGAGCTGAATCGGGAGCTGGGGGCTGGCCAGGCACCAAGCCTAGGGGACCGTACCCGCCTCCCTTACACCGACGCGGTTCTGCATGAGGCGCAGCGGCTGCTGGCGCTGGTGCCCATGGGAATACCCCGCACCCTCATGCGGACCACCCGCTTCCGAGGGTACACCCTGCCCCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000167600_MULTIEX1-4/6=C1-5
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=0.314 C2=0.150
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGAAGTACGGACCGGTGTTCA
R:
GGTGTAAGGGAGGCGGGTAC
Band lengths:
242-384
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