Special

HsaEX0018275 @ hg38

Exon Skipping

Gene
ENSG00000100197 | CYP2D6
Description
cytochrome P450 family 2 subfamily D member 6 [Source:HGNC Symbol;Acc:HGNC:2625]
Coordinates
chr22:42128784-42129909:-
Coord C1 exon
chr22:42129738-42129909
Coord A exon
chr22:42129033-42129185
Coord C2 exon
chr22:42128784-42128944
Length
153 bp
Sequences
Splice sites
3' ss Seq
CGTGCCCGTCCCACCCCCAGGGG
3' ss Score
10.64
5' ss Seq
CCGGTGGGT
5' ss Score
7.85
Exon sequences
Seq C1 exon
TTGCGGCGCCGCTTCGGGGACGTGTTCAGCCTGCAGCTGGCCTGGACGCCGGTGGTCGTGCTCAATGGGCTGGCGGCCGTGCGCGAGGCGCTGGTGACCCACGGCGAGGACACCGCCGACCGCCCGCCTGTGCCCATCACCCAGATCCTGGGTTTCGGGCCGCGTTCCCAAG
Seq A exon
GGGTGTTCCTGGCGCGCTATGGGCCCGCGTGGCGCGAGCAGAGGCGCTTCTCCGTGTCCACCTTGCGCAACTTGGGCCTGGGCAAGAAGTCGCTGGAGCAGTGGGTGACCGAGGAGGCCGCCTGCCTTTGTGCCGCCTTCGCCAACCACTCCG
Seq C2 exon
GACGCCCCTTTCGCCCCAACGGTCTCTTGGACAAAGCCGTGAGCAACGTGATCGCCTCCCTCACCTGCGGGCGCCGCTTCGAGTACGACGACCCTCGCTTCCTCAGGCTGCTGGACCTAGCTCAGGAGGGACTGAAGGAGGAGTCGGGCTTTCTGCGCGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100197_CASSETTE2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.031 A=0.000 C2=0.007
Domain overlap (PFAM):

C1:
PF0006717=p450=PU(93.4=98.3),PF0006717=p450=PU(4.2=8.6)
A:
PF0006717=p450=FE(11.1=100)
C2:
PF0006717=p450=PD(1.2=1.9),PF0006717=p450=FE(16.1=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Inclusion Isoforms:


Other Skipping Isoforms:
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTCGTGCTCAATGGGCTGG
R:
CTCCTTCAGTCCCTCCTGAGC
Band lengths:
258-411
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