Special

HsaEX0018294 @ hg19

Exon Skipping

Gene
ENSG00000186104 | CYP2R1
Description
cytochrome P450, family 2, subfamily R, polypeptide 1 [Source:HGNC Symbol;Acc:20580]
Coordinates
chr11:14900660-14912015:-
Coord C1 exon
chr11:14911978-14912015
Coord A exon
chr11:14907322-14907463
Coord C2 exon
chr11:14900660-14900989
Length
142 bp
Sequences
Splice sites
3' ss Seq
TTTTTCTTCTCTTCTCAAAGATC
3' ss Score
8.8
5' ss Seq
GAGGTATGT
5' ss Score
9.81
Exon sequences
Seq C1 exon
TTTACGTTGTTAAAGGGAAGCTGGACGAGATAATAAAG
Seq A exon
ATCTTCAGTTTAGATCTTGGAGGCATATCAACTGTGGTTCTAAATGGCTATGATGTAGTAAAGGAATGCCTTGTTCATCAAAGCGAAATTTTTGCAGACAGACCATGCCTTCCTTTATTCATGAAGATGACAAAAATGGGAG
Seq C2 exon
GACAAGTTCAGAAAGAGATTGATTTAATTATGGGCCCTAATGGGAAGCCTTCTTGGGACGACAAATGCAAAATGCCTTATACTGAGGCAGTTTTGCATGAAGTTTTAAGATTCTGTAATATAGTTCCATTAGGGATTTTCCATGCAACCTCTGAAGATGCAGTTGTACGTGGTTATTCCATTCCTAAAGGCACAACAGTAATTACAAATCTTTATTCTGTACACTTTGATGAAAAGTACTGGAGAGACCCAGAAGTGTTCCATCCTGAGCGATTTCTGGACAGCAGTGGATATTTTGCCAAGAAGGAAGCTTTGGTTCCTTTTTCCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186104_MULTIEX1-3/4=1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

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

C1:
PF0006717=p450=PD(19.6=81.8)
A:
PF0006717=p450=FE(10.2=100)
C2:
PF0006717=p450=FE(24.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGTTGTTAAAGGGAAGCTGGA
R:
TTGTAATTACTGTTGTGCCTTTAGGA
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