Special

HsaEX6000952 @ hg38

Exon Skipping

Gene
ENSG00000186104 | CYP2R1
Description
cytochrome P450 family 2 subfamily R member 1 [Source:HGNC Symbol;Acc:HGNC:20580]
Coordinates
chr11:14877440-14880768:-
Coord C1 exon
chr11:14880136-14880768
Coord A exon
chr11:14879114-14879443
Coord C2 exon
chr11:14877440-14878297
Length
330 bp
Sequences
Splice sites
3' ss Seq
GAATACTTTTTCTCTGACAGGAC
3' ss Score
8.68
5' ss Seq
TAGGTAAGA
5' ss Score
9.14
Exon sequences
Seq C1 exon
TGCTATTGAAACATACAAAGGTAGACCTTTTGACTTTAAACAGTTAATAACGAATGCTGTTTCAAACATAACCAATCTGATCATTTTTGGAGAACGATTCACTTATGAAGACACCGATTTTCAGCACATGATTGAGTTATTTAGTGAAAATGTGGAACTAGCTGCCAGTGCCTCAGTCTTCTTGTATAATGCCTTTCCATGGATTGGCATCCTGCCTTTTGGAAAACATCAACAGCTGTTTAGAAATGCAGCTGTAGTCTATGATTTTCTCTCCAGACTCATTGAAAAAGCTTCAGTCAACAGAAAGCCTCAGCTACCTCAGCATTTTGTTGATGCTTATTTAGATGAGATGGATCAAGGTAAAAATGACCCATCATCTACTTTCTCCAAAGAAAACCTAATTTTCTCAGTGGGTGAACTCATCATTGCTGGAACTGAAACTACAACCAATGTGCTACGGTGGGCGATTCTTTTCATGGCCCTTTATCCTAATATTCAAG
Seq A exon
GACAAGTTCAGAAAGAGATTGATTTAATTATGGGCCCTAATGGGAAGCCTTCTTGGGACGACAAATGCAAAATGCCTTATACTGAGGCAGTTTTGCATGAAGTTTTAAGATTCTGTAATATAGTTCCATTAGGGATTTTCCATGCAACCTCTGAAGATGCAGTTGTACGTGGTTATTCCATTCCTAAAGGCACAACAGTAATTACAAATCTTTATTCTGTACACTTTGATGAAAAGTACTGGAGAGACCCAGAAGTGTTCCATCCTGAGCGATTTCTGGACAGCAGTGGATATTTTGCCAAGAAGGAAGCTTTGGTTCCTTTTTCCCTAG
Seq C2 exon
GAAGAAGACATTGTCTTGGAGAACACTTGGCTCGGATGGAAATGTTCTTGTTTTTTACAGCATTGCTTCAGAGGTTTCATTTGCATTTTCCACATGAACTAGTTCCAGATCTGAAGCCCAGGTTAGGCATGACATTGCAGCCCCAACCCTACCTCATCTGTGCTGAAAGACGCTGAAACTGCCTGGGATGTTTTCGGGAACAAGAATGTATATTTGCCTTATCCCTGAACTTGGTTTAATCAAATCAATGTGTGTATTAGAATAAAAGTCACAGCATCAAAAAGCCAAATGAACACAGATGTGTCTTAAAATAGTACTAGAGCAGAAACAAGCACTAGTCGTGATTGTTTTTCAAGATTTTATGACTTCTGGGGTAAAATTCTCTGTTGAGAGACACAAAGGTGCAAATGATGGGTGTTGCTTAAAATGCTAAGAAGGGTCATGGACGCCCTAAGCTGAGCATCTTGTTTAGTACCAGGTACTTTCATCCCTTCTTGACT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186104-'15-21,'15-16,17-21
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.040 A=0.007 C2=0.000
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(46.0=100)
A:
PF0006717=p450=FE(24.0=100)
C2:
PF0006717=p450=PD(11.8=91.5)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGCCTTTCCATGGATTGGCAT
R:
CATCCGAGCCAAGTGTTCTCC
Band lengths:
349-679
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains