Special

HsaINT0044278 @ hg38

Intron Retention

Gene
ENSG00000100197 | CYP2D6
Description
cytochrome P450 family 2 subfamily D member 6 [Source:HGNC Symbol;Acc:HGNC:2625]
Coordinates
chr22:42129033-42129909:-
Coord C1 exon
chr22:42129738-42129909
Coord A exon
chr22:42129186-42129737
Coord C2 exon
chr22:42129033-42129185
Length
552 bp
Sequences
Splice sites
5' ss Seq
AAGGCAAGC
5' ss Score
2.46
3' ss Seq
CGTGCCCGTCCCACCCCCAGGGG
3' ss Score
10.64
Exon sequences
Seq C1 exon
TTGCGGCGCCGCTTCGGGGACGTGTTCAGCCTGCAGCTGGCCTGGACGCCGGTGGTCGTGCTCAATGGGCTGGCGGCCGTGCGCGAGGCGCTGGTGACCCACGGCGAGGACACCGCCGACCGCCCGCCTGTGCCCATCACCCAGATCCTGGGTTTCGGGCCGCGTTCCCAAG
Seq A exon
GCAAGCAGCGGTGGGGACAGAGACAGATTTCCGTGGGACCCGGGTGGGTGATGACCGTAGTCCGAGCTGGGCAGAGAGGGCGCGGGGTCGTGGACATGAAACAGGCCAGCGAGTGGGGACAGCGGGCCAAGAAACCACCTGCACTAGGGAGGTGTGAGCATGGGGACGAGGGCGGGGCTTGTGACGAGTGGGCGGGGCCACTGCCGAGACCTGGCAGGAGCCCAATGGGTGAGGCTGGCGCATTTCCCAGCTGGAATCCGGTGTCGAAGTGGGGGGCGGGGACCGCACCTGTGCTGTAAGCTCAGTGTGGGTGGCGCGGGGCCCGCGGGGTCTTCCCTGAGTGCAAAGGCGGTCAGGGTGGGCAGAGACGAGGTGGGGCAAAGCCCTGCCCCAGCCAAGGGAGCAAGGTGGATGCACAAAGAGTGGGCCCTGTGACCAGCTGGACAGAGCCAGGGACTGCGGGAGACCAGGGGGAGCATAGGGTTGGAGTGGGTGGTGGATGGTGGGGCTAATGCCTTCATGGCCACGCGCACGTGCCCGTCCCACCCCCAG
Seq C2 exon
GGGTGTTCCTGGCGCGCTATGGGCCCGCGTGGCGCGAGCAGAGGCGCTTCTCCGTGTCCACCTTGCGCAACTTGGGCCTGGGCAAGAAGTCGCTGGAGCAGTGGGTGACCGAGGAGGCCGCCTGCCTTTGTGCCGCCTTCGCCAACCACTCCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100197:ENST00000360608:2
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0006717=p450=PU(93.4=98.3),PF0006717=p450=PU(4.2=8.6)
A:
NA
C2:
PF0006717=p450=FE(11.1=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGGGACGTGTTCAGCCTG
R:
CGGAGTGGTTGGCGAAGG
Band lengths:
310-862
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