HsaEX0002239 @ hg38
Exon Skipping
Gene
ENSG00000186529 | CYP4F3
Description
cytochrome P450 family 4 subfamily F member 3 [Source:HGNC Symbol;Acc:HGNC:2646]
Coordinates
chr19:15641415-15647105:+
Coord C1 exon
chr19:15641415-15641613
Coord A exon
chr19:15643907-15644051
Coord C2 exon
chr19:15647052-15647105
Length
145 bp
Sequences
Splice sites
3' ss Seq
GGCCCCTGCCTTGCTTGCAGGTC
3' ss Score
9.43
5' ss Seq
CAGGTACCA
5' ss Score
7.88
Exon sequences
Seq C1 exon
GATGCCACAGCTGAGCCTGTCCTCGCTGGGCCTTTGGCCAATGGCAGCATCCCCGTGGCTGCTCCTGCTGCTGGTTGGGGCCTCCTGGCTCCTGGCCCGCATCCTGGCCTGGACCTATACCTTCTATGACAACTGCTGCCGCCTCCGGTGTTTCCCGCAACCCCCGAAACGGAATTGGTTCTTGGGTCACCTGGGCCTG
Seq A exon
GTCACCCCCACGGAGCAGGGCATGAGGGTCCTGACTCAGCTGGTGGCCACCTACCCCCAGGGCTTTAAGGTCTGGATGGGCCCCATCTTCCCCGTCATCCGTTTTTGCCACCCCAACATCATCCGGTCTGTCATCAACGCCTCAG
Seq C2 exon
CTGCCATTGTACCAAAGGACAAGGTCTTCTACAGCTTCCTGAAGCCCTGGCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186529_MULTIEX1-1/2=C1-C2
Average complexity
ME(1-2[100=100])
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0006717=p450=PU(3.0=21.2)
A:
PF0006717=p450=FE(10.3=100)
C2:
PF0006717=p450=FE(3.9=100)
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGCCACAGCTGAGCCTG
R:
TTCAGGAAGCTGTAGAAGACCT
Band lengths:
242-387
Functional annotations
There are 3 annotated functions for this event
PMID: 10409674
Cytochrome P450 4F3 (CYP4F3) catalyzes the inactivation of leukotriene B(4) by omega-oxidation in human neutrophils. The CYP4F3 gene contains 14 exons and 13 introns. The cDNAs for CYP4F3A (the neutrophil isoform) and CYP4F3B have identical coding regions, except that they contain exons 4 (HsaEX0002240) and 3 (HsaEX0002239), respectively. Both exons code for amino acids 66-114 but share only 27% identity. When expressed in COS-7 cells, the K(m) of CYP4F3B was determined to be 26-fold higher than the K(m) of CYP4F3A using leukotriene B(4) as a substrate.
PMID: 11461919
Substrate specificity. Mutually exclusive exons, each coding for 48 amino acids, generate isoforms of human CYP4F3 that differ in substrate specificity, tissue distribution, and biological function. CYP4F3B (including HsaEX0002239) has a 30-fold higher Km for LTB4 compared with CYP4F3A, but it utilizes arachidonic acid as a substrate for omega-hydroxylation (Km = 22 microm) and generates 20-HETE, an activator of protein kinase C and Ca2+/calmodulin-dependent kinase II.
PMID: 15145985
Among recombinant P450 enzymes, CYP4F2 and CYP4F3B (uses mutually exclusive exon HsaEX0002239) catalyzed mainly the omega-hydroxylation of C18-epoxides with an apparent Vmax of between 0.84 and 15.0 min_1, whereas the apparent Vmax displayed by CYP4F3A, the isoform found in leukocytes (uses mutually exclusive exon HsaEX0002240), ranged from 3.0 to 21.2 min_1.
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