HsaINT1010482 @ hg38
Intron Retention
Gene
ENSG00000100197 | CYP2D6
Description
cytochrome P450 family 2 subfamily D member 6 [Source:HGNC Symbol;Acc:HGNC:2625]
Coordinates
chr22:42129738-42130906:-
Coord C1 exon
chr22:42130612-42130906
Coord A exon
chr22:42129910-42130611
Coord C2 exon
chr22:42129738-42129909
Length
702 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
CCCTGACCCTCCCTCTGCAGTTG
3' ss Score
9.56
Exon sequences
Seq C1 exon
ATAAGGGAAGGGTCACGCGCTCGGTGTGCTGAGAGTGTCCTGCCTGGTCCTCTGTGCCTGGTGGGGTGGGGGTGCCAGGTGTGTCCAGAGGAGCCCATTTGGTAGTGAGGCAGGTATGGGGCTAGAAGCACTGGTGCCCCTGGCCGTGATAGTGGCCATCTTCCTGCTCCTGGTGGACCTGATGCACCGGCGCCAACGCTGGGCTGCACGCTACCCACCAGGCCCCCTGCCACTGCCCGGGCTGGGCAACCTGCTGCATGTGGACTTCCAGAACACACCATACTGCTTCGACCAG
Seq A exon
GTGAGGGAGGAGGTCCTGGAGGGCGGCAGAGGTGCTGAGGCTCCCCTACCAGAAGCAAACATGGATGGTGGGTGAAACCACAGGCTGGACCAGAAGCCAGGCTGAGAAGGGGAAGCAGGTTTGGGGGACGTCCTGGAGAAGGGCATTTATACATGGCATGAAGGACTGGATTTTCCAAAGGCCAAGGAAGAGTAGGGCAAGGGCCTGGAGGTGGAGCTGGACTTGGCAGTGGGCATGCAAGCCCATTGGGCAACATATGTTATGGAGTACAAAGTCCCTTCTGCTGACACCAGAAGGAAAGGCCTTGGGAATGGAAGATGAGTTAGTCCTGAGTGCCGTTTAAATCACGAAATCGAGGATGAAGGGGGTGCAGTGACCCGGTTCAAACCTTTTGCACTGTGGGTCCTCGGGCCTCACTGCTCACCGGCATGGACCATCATCTGGGAATGGGATGCTAACTGGGGCCTCTCGGCAATTTTGGTGACTCTTGCAAGGTCATACCTGGGTGACGCATCCAAACTGAGTTCCTCCATCACAGAAGGTGTGACCCCCACCCCCGCCCCACGATCAGGAGGCTGGGTCTCCTCCTTCCACCTGCTCACTCCTGGTAGCCCCGGGGGTCGTCCAAGGTTCAAATAGGACTAGGACCTGTAGTCTGGGGTGATCCTGGCTTGACAAGAGGCCCTGACCCTCCCTCTGCAG
Seq C2 exon
TTGCGGCGCCGCTTCGGGGACGTGTTCAGCCTGCAGCTGGCCTGGACGCCGGTGGTCGTGCTCAATGGGCTGGCGGCCGTGCGCGAGGCGCTGGTGACCCACGGCGAGGACACCGCCGACCGCCCGCCTGTGCCCATCACCCAGATCCTGGGTTTCGGGCCGCGTTCCCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000100197:ENST00000360608:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.031
Domain overlap (PFAM):
C1:
PF0006717=p450=PU(30.2=43.3)
A:
NA
C2:
PF0006717=p450=PU(93.4=98.3),PF0006717=p450=PU(4.2=8.6)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Cow
(bosTau6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAGCCCATTTGGTAGTGAGGC
R:
CAGGATCTGGGTGATGGGCA
Band lengths:
355-1057
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains