Special

HsaINT0044300 @ hg38

Intron Retention

Gene
ENSG00000130649 | CYP2E1
Description
cytochrome P450 family 2 subfamily E member 1 [Source:HGNC Symbol;Acc:HGNC:2631]
Coordinates
chr10:133537063-133537892:+
Coord C1 exon
chr10:133537063-133537250
Coord A exon
chr10:133537251-133537750
Coord C2 exon
chr10:133537751-133537892
Length
500 bp
Sequences
Splice sites
5' ss Seq
AAGGTTAAG
5' ss Score
3.39
3' ss Seq
ACAGTCTTTGTTTCTCCTAGGGC
3' ss Score
9.31
Exon sequences
Seq C1 exon
AGAAGCTCCATGAAGAAATTGACAGGGTGATTGGGCCAAGCCGAATCCCTGCCATCAAGGATAGGCAAGAGATGCCCTACATGGATGCTGTGGTGCATGAGATTCAGCGGTTCATCACCCTCGTGCCCTCCAACCTGCCCCATGAAGCAACCCGAGACACCATTTTCAGAGGATACCTCATCCCCAAG
Seq A exon
GTTAAGCAATGAGCCTGCAGCACACAGCATGAACACCATCCTATCAGCTAATCGCCTTCCTGCCAGGGAGCAGGATGGGGGCCCCAAGACCCTTCCCTTTGGCAGGGGTCACTGAGGGGAAGGGCTGGCCCCACTCCCACCCTGTGGGATACTGCATCTCCAGGAGTGCTCACATTGGCCTGGTGACCAGAGAGGTGGAGGAAATCTGGAAAAGAGCCTCAGCAGATAGTGCCTGGGACTGTAGTGAATTCTAATGCCAGGAACAAACTATCACAACCAGCCCTGGGGTTAATCCTGTGAGAAGATTAGGGCTTTCATCTTCATTTAGACCTGACCCCTGACTGCTTTCTATCTAATCCTTCACTAAGCAACTCCTTCAACTGGAAATATACTATCCTATATAGCATAATATTCAAAACTACATTCTTCACTGGGGGTTTCCAGATGAAAGCCCACATTTTGTTAACATGACTCACTGAGACAGTCTTTGTTTCTCCTAG
Seq C2 exon
GGCACAGTCGTAGTGCCAACTCTGGACTCTGTTTTGTATGACAACCAAGAATTTCCTGATCCAGAAAAGTTTAAGCCAGAACACTTCCTGAATGAAAATGGAAAGTTCAAGTACAGTGACTATTTCAAGCCATTTTCCACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130649:ENST00000463117:9
Average complexity
IR
Mappability confidence:
NA
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=NA C2=0.042
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(13.6=100)
A:
NA
C2:
PF0006717=p450=FE(10.3=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCTCCATGAAGAAATTGACAGGG
R:
TGTGGAAAATGGCTTGAAATAGTCAC
Band lengths:
326-826
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