Special

HsaINT0044321 @ hg19

Intron Retention

Gene
ENSG00000186104 | CYP2R1
Description
cytochrome P450, family 2, subfamily R, polypeptide 1 [Source:HGNC Symbol;Acc:20580]
Coordinates
chr11:14900660-14902314:-
Coord C1 exon
chr11:14901682-14902314
Coord A exon
chr11:14900990-14901681
Coord C2 exon
chr11:14900660-14900989
Length
692 bp
Sequences
Splice sites
5' ss Seq
AAGGTGAGG
5' ss Score
9.16
3' ss Seq
GAATACTTTTTCTCTGACAGGAC
3' ss Score
8.68
Exon sequences
Seq C1 exon
GCTTACTCAATTCCAGATATGGCCGAGGATGGGTTGATCACAGACGATTAGCTGTAAACAGTTTTCGATATTTTGGATATGGCCAAAAGTCTTTTGAATCTAAAATCTTGGAAGAAACCAAATTTTTCAATGATGCTATTGAAACATACAAAGGTAGACCTTTTGACTTTAAACAGTTAATAACGAATGCTGTTTCAAACATAACCAATCTGATCATTTTTGGAGAACGATTCACTTATGAAGACACCGATTTTCAGCACATGATTGAGTTATTTAGTGAAAATGTGGAACTAGCTGCCAGTGCCTCAGTCTTCTTGTATAATGCCTTTCCATGGATTGGCATCCTGCCTTTTGGAAAACATCAACAGCTGTTTAGAAATGCAGCTGTAGTCTATGATTTTCTCTCCAGACTCATTGAAAAAGCTTCAGTCAACAGAAAGCCTCAGCTACCTCAGCATTTTGTTGATGCTTATTTAGATGAGATGGATCAAGGTAAAAATGACCCATCATCTACTTTCTCCAAAGAAAACCTAATTTTCTCAGTGGGTGAACTCATCATTGCTGGAACTGAAACTACAACCAATGTGCTACGGTGGGCGATTCTTTTCATGGCCCTTTATCCTAATATTCAAG
Seq A exon
GTGAGGATTCTCTTGATGATCTCAGGGTCTATCCTTACATGTAGGGTTCATACATGTTTTTGAGTCTTGGCCATGCACAATACATTTTCTTTAGGAACTCCTGCGATGCCAGCCAAGTATAGAAATATTTAATAGTTACAAAAAAGAGTTTTCAAATCTATTATCTCAATTCATGTAAAAAAAATCTCTGAAAGAGGTCTTATTATGCCCATTTTATAAATGAGAAAAAACACTGTGTGTCTGCAAGTGGCAGAGCTGGAATCTGAACTCTGATAGAATTTTAAAAACTAATTTTATGCTTTACTATTTTTCTTACTCCAATTCTAGGTATGTTTAATGTTTATTCTTATTACTTATGTCTTTCACAATAGAGCTACCCAGAGCACTGGCTACTGTTAGAACAAGATATATAGCATATATTTCAATAGAACGCCCAGATAATAAAAAATCTGAATCTGGATGTATCTATATCCTATTGGCTTGTTATAGGTTATCAGAGCACTGGCTACTGTTAGTACAAGATATATAGCATATATTTCAATAGAACGCCCAGATAATAAAAAATCTGAATCTGGATGTATCTATATCCTATTGGCTTGTTATAGGTTATCCTTTATTTTATTCCAGAGGGAAATAACTTTAGGTATAATTCTAAGAACTGCATAATAACTTGAATACTTTTTCTCTGACAG
Seq C2 exon
GACAAGTTCAGAAAGAGATTGATTTAATTATGGGCCCTAATGGGAAGCCTTCTTGGGACGACAAATGCAAAATGCCTTATACTGAGGCAGTTTTGCATGAAGTTTTAAGATTCTGTAATATAGTTCCATTAGGGATTTTCCATGCAACCTCTGAAGATGCAGTTGTACGTGGTTATTCCATTCCTAAAGGCACAACAGTAATTACAAATCTTTATTCTGTACACTTTGATGAAAAGTACTGGAGAGACCCAGAAGTGTTCCATCCTGAGCGATTTCTGGACAGCAGTGGATATTTTGCCAAGAAGGAAGCTTTGGTTCCTTTTTCCCTAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186104-CYP2R1:NM_024514:3
Average complexity
IR-C
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

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

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


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Primers PCR
Suggestions for RT-PCR validation
F:
ACAACCAATGTGCTACGGTGG
R:
CACTGCTGTCCAGAAATCGCT
Band lengths:
346-1038
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development