HsaEX0021811 @ hg38
Exon Skipping
Gene
ENSG00000172889 | EGFL7
Description
EGF like domain multiple 7 [Source:HGNC Symbol;Acc:HGNC:20594]
Coordinates
chr9:136668557-136670009:+
Coord C1 exon
chr9:136668557-136668673
Coord A exon
chr9:136669606-136669721
Coord C2 exon
chr9:136669914-136670009
Length
116 bp
Sequences
Splice sites
3' ss Seq
CTGTCCCACCCACCCCACAGAAC
3' ss Score
9.5
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CCGTAGGGTGTGTGCTGTCCGGGCTCACGGGGACCCTGTCTCCGAGTCGTTCGTGCAGCGTGTGTACCAGCCCTTCCTCACCACCTGCGACGGGCACCGGGCCTGCAGCACCTACCG
Seq A exon
AACCATCTATAGGACCGCCTACCGCCGCAGCCCTGGGCTGGCCCCTGCCAGGCCTCGCTACGCGTGCTGCCCCGGCTGGAAGAGGACCAGCGGGCTTCCTGGGGCCTGTGGAGCAG
Seq C2 exon
CAATATGCCAGCCGCCATGCCGGAACGGAGGGAGCTGTGTCCAGCCTGGCCGCTGCCGCTGCCCTGCAGGATGGCGGGGTGACACTTGCCAGTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000172889_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
Show structural model
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF075468=EMI=PU(55.7=97.5)
A:
PF075468=EMI=PD(42.9=75.0)
C2:
PF079748=EGF_2=WD(100=84.8),PF0764510=EGF_CA=PU(0.1=0.0)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TAGGGTGTGTGCTGTCCGG
R:
CTGACTGGCAAGTGTCACCC
Band lengths:
210-326
Functional annotations
There are 0 annotated functions for this event
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