Special

HsaINT0044297 @ hg38

Intron Retention

Gene
ENSG00000130649 | CYP2E1
Description
cytochrome P450 family 2 subfamily E member 1 [Source:HGNC Symbol;Acc:HGNC:2631]
Coordinates
chr10:133532124-133532868:+
Coord C1 exon
chr10:133532124-133532284
Coord A exon
chr10:133532285-133532691
Coord C2 exon
chr10:133532692-133532868
Length
407 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAAG
5' ss Score
6.66
3' ss Seq
ATATTTTTTTCCCTCTCTAGCTT
3' ss Score
9.86
Exon sequences
Seq C1 exon
GCCAGCCTTTCGACCCCACCTTCCTCATCGGCTGCGCGCCCTGCAACGTCATAGCCGACATCCTCTTCCGCAAGCATTTTGACTACAATGATGAGAAGTTTCTAAGGCTGATGTATTTGTTTAATGAGAACTTCCACCTACTCAGCACTCCCTGGCTCCAG
Seq A exon
GTGAAGCCACTTTCCTCTTTCATCAGTCATCAACTGTAGAGTTTACGTTAGAAAAAGAAGGAAAATTTGGGTTATATGTGATAGACAGGACTGCAAAAGCCAAACAACATAGCTTCGAGGGGTGTTTGATTAGACAGCCCAAATATTCCTCCCAGAGACATCTCTGGGGCCCCACGCACCCCCTTTCCTAACGTCAGGATGTGTATCGACCTGTGTGTGCACATTTGCCATGCAGAGTTTGCACTGCTGAGGAGAATGGTGCCCAAGAAGGACACTGTTGACCCAAAATATTCCAAATAAACAATGATTACAGCCACAAATTCAGGTTTGGAGAAAGTTGTTGGTCCAACACACACAATTATGTTGCATCCAGAAAAAAGTAGTAAAATATTTTTTTCCCTCTCTAG
Seq C2 exon
CTTTACAATAATTTTCCCAGCTTTCTACACTACTTGCCTGGAAGCCACAGAAAAGTCATAAAAAATGTGGCTGAAGTAAAAGAGTATGTGTCTGAAAGGGTGAAGGAGCACCATCAATCTCTGGACCCCAACTGTCCCCGGGACCTCACCGACTGCCTGCTCGTGGAAATGGAGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000130649:ENST00000463117:6
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=0.014
Domain overlap (PFAM):

C1:
PF0006717=p450=FE(11.6=100)
A:
NA
C2:
PF0006717=p450=FE(12.7=100)


Main Inclusion Isoform:
NA


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
([1])
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
LOW PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGCCTTTCGACCCCACCTTC
R:
TTCTCCATTTCCACGAGCAGG
Band lengths:
334-741
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