HsaEX0049847 @ hg38
Exon Skipping
Gene
ENSG00000241404 | EGFL8
Description
EGF like domain multiple 8 [Source:HGNC Symbol;Acc:HGNC:13944]
Coordinates
chr6:32164583-32166620:+
Coord C1 exon
chr6:32164583-32164657
Coord A exon
chr6:32166138-32166266
Coord C2 exon
chr6:32166498-32166620
Length
129 bp
Sequences
Splice sites
3' ss Seq
TAACCTTTTCTTGCCTGCAGCCT
3' ss Score
9.59
5' ss Seq
GAGGTGACA
5' ss Score
3.85
Exon sequences
Seq C1 exon
CCAGGCCCACCCACCAGTCTGAGCTGCTTCTGCTGAGGCTGGTCTGCTTGAAGCCTCCCAGGAGAAAGAAGCCAG
Seq A exon
CCTGTAGGGTCCAGCGTCAAAGCGAATCATGGGGTCCAGGGCTGAGCTGTGCACTCTCTTAGGCGGATTCTCCTTCCTCCTGCTACTGATACCAGGCGAGGGGGCCAAGGGTGGATCCCTCAGAGAGAG
Seq C2 exon
TCAGGGAGTCTGCTCCAAGCAGACACTGGTGGTCCCGCTCCACTACAACGAGTCCTACAGCCAACCAGTGTACAAGCCCTACCTGACCTTGTGCGCTGGGAGGCGCATCTGCAGCACTTACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000241404-'0-4,'0-2,3-4=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref, Alt. ATG (>10 exons))
Show PDB structure
Features
Disorder rate (Iupred):
C1=NA A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NA
A:
PF075468=EMI=PU(0.1=0.0)
C2:
PF075468=EMI=PU(57.7=97.6)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Rat
(rn6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCCCACCCACCAGTCTGA
R:
CTGTAAGTGCTGCAGATGCGC
Band lengths:
194-323
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