Special

HsaEX0018295 @ hg38

Exon Skipping

Gene
ENSG00000186104 | CYP2R1
Description
cytochrome P450 family 2 subfamily R member 1 [Source:HGNC Symbol;Acc:HGNC:20580]
Coordinates
chr11:14879114-14885917:-
Coord C1 exon
chr11:14885776-14885917
Coord A exon
chr11:14880136-14880768
Coord C2 exon
chr11:14879114-14879443
Length
633 bp
Sequences
Splice sites
3' ss Seq
ATTTTAATATTTTTTTTCAGGCT
3' ss Score
9.62
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
Exon sequences
Seq C1 exon
ATCTTCAGTTTAGATCTTGGAGGCATATCAACTGTGGTTCTAAATGGCTATGATGTAGTAAAGGAATGCCTTGTTCATCAAAGCGAAATTTTTGCAGACAGACCATGCCTTCCTTTATTCATGAAGATGACAAAAATGGGAG
Seq A exon
GCTTACTCAATTCCAGATATGGCCGAGGATGGGTTGATCACAGACGATTAGCTGTAAACAGTTTTCGATATTTTGGATATGGCCAAAAGTCTTTTGAATCTAAAATCTTGGAAGAAACCAAATTTTTCAATGATGCTATTGAAACATACAAAGGTAGACCTTTTGACTTTAAACAGTTAATAACGAATGCTGTTTCAAACATAACCAATCTGATCATTTTTGGAGAACGATTCACTTATGAAGACACCGATTTTCAGCACATGATTGAGTTATTTAGTGAAAATGTGGAACTAGCTGCCAGTGCCTCAGTCTTCTTGTATAATGCCTTTCCATGGATTGGCATCCTGCCTTTTGGAAAACATCAACAGCTGTTTAGAAATGCAGCTGTAGTCTATGATTTTCTCTCCAGACTCATTGAAAAAGCTTCAGTCAACAGAAAGCCTCAGCTACCTCAGCATTTTGTTGATGCTTATTTAGATGAGATGGATCAAGGTAAAAATGACCCATCATCTACTTTCTCCAAAGAAAACCTAATTTTCTCAGTGGGTGAACTCATCATTGCTGGAACTGAAACTACAACCAATGTGCTACGGTGGGCGATTCTTTTCATGGCCCTTTATCCTAATATTCAAG
Seq C2 exon
GACAAGTTCAGAAAGAGATTGATTTAATTATGGGCCCTAATGGGAAGCCTTCTTGGGACGACAAATGCAAAATGCCTTATACTGAGGCAGTTTTGCATGAAGTTTTAAGATTCTGTAATATAGTTCCATTAGGGATTTTCCATGCAACCTCTGAAGATGCAGTTGTACGTGGTTATTCCATTCCTAAAGGCACAACAGTAATTACAAATCTTTATTCTGTACACTTTGATGAAAAGTACTGGAGAGACCCAGAAGTGTTCCATCCTGAGCGATTTCTGGACAGCAGTGGATATTTTGCCAAGAAGGAAGCTTTGGTTCCTTTTTCCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186104-'9-16,'9-14,15-16
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show PDB structure
Features
Disorder rate (Iupred):
  C1=0.081 A=0.040 C2=0.007
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(10.2=100)
A:
PF0006717=p450=FE(46.0=100)
C2:
PF0006717=p450=FE(24.0=100)


Main Inclusion Isoform:


Main Skipping Isoform:


Other Skipping Isoforms:
NA
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TTTTTGCAGACAGACCATGCCT
R:
CACTGCTGTCCAGAAATCGCT
Band lengths:
342-975
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development