Special

HsaEX7010893 @ hg38

Exon Skipping

Gene
ENSG00000100197 | CYP2D6
Description
cytochrome P450 family 2 subfamily D member 6 [Source:HGNC Symbol;Acc:HGNC:2625]
Coordinates
chr22:42128174-42129185:-
Coord C1 exon
chr22:42129033-42129185
Coord A exon
chr22:42128784-42128944
Coord C2 exon
chr22:42128174-42128350
Length
161 bp
Sequences
Splice sites
3' ss Seq
CCCGCATCTCCCACCCCCAGGAC
3' ss Score
10.24
5' ss Seq
GAGGTGCGG
5' ss Score
6.79
Exon sequences
Seq C1 exon
GGGTGTTCCTGGCGCGCTATGGGCCCGCGTGGCGCGAGCAGAGGCGCTTCTCCGTGTCCACCTTGCGCAACTTGGGCCTGGGCAAGAAGTCGCTGGAGCAGTGGGTGACCGAGGAGGCCGCCTGCCTTTGTGCCGCCTTCGCCAACCACTCCG
Seq A exon
GACGCCCCTTTCGCCCCAACGGTCTCTTGGACAAAGCCGTGAGCAACGTGATCGCCTCCCTCACCTGCGGGCGCCGCTTCGAGTACGACGACCCTCGCTTCCTCAGGCTGCTGGACCTAGCTCAGGAGGGACTGAAGGAGGAGTCGGGCTTTCTGCGCGAG
Seq C2 exon
GTGCTGAATGCTGTCCCCGTCCTCCTGCATATCCCAGCGCTGGCTGGCAAGGTCCTACGCTTCCAAAAGGCTTTCCTGACCCAGCTGGATGAGCTGCTAACTGAGCACAGGATGACCTGGGACCCAGCCCAGCCCCCCCGAGACCTGACTGAGGCCTTCCTGGCAGAGATGGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100197-'3-5,'3-3,4-5=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.007 C2=0.149
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(11.1=100)
A:
PF0006717=p450=PD(1.2=1.9),PF0006717=p450=FE(16.1=100)
C2:
PF0006717=p450=FE(17.6=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Conservation
Chicken
(galGal4)
HIGH PSI
([1])
Zebrafish
(danRer10)
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CAAGAAGTCGCTGGAGCAGTG
R:
TCTCCATCTCTGCCAGGAAGG
Band lengths:
246-407
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains