HsaEX6098991 @ hg38
Exon Skipping
Gene
ENSG00000164176 | EDIL3
Description
EGF like repeats and discoidin domains 3 [Source:HGNC Symbol;Acc:HGNC:3173]
Coordinates
chr5:84106649-84180521:-
Coord C1 exon
chr5:84180393-84180521
Coord A exon
chr5:84137241-84137354
Coord C2 exon
chr5:84106649-84106830
Length
114 bp
Sequences
Splice sites
3' ss Seq
GTCCTTTCTGTTTTTCTTAGACA
3' ss Score
8.99
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
GTCCCTGCACTCCTAATCCATGCCATAATGGAGGAACCTGTGAAATAAGTGAAGCATACCGAGGGGATACATTCATAGGCTATGTTTGTAAATGTCCCCGAGGATTTAATGGGATTCACTGTCAGCACA
Seq A exon
ACATAAATGAATGCGAAGTTGAGCCTTGCAAAAATGGTGGAATATGTACAGATCTTGTTGCTAACTATTCCTGTGAGTGCCCAGGCGAATTTATGGGAAGAAATTGTCAATACA
Seq C2 exon
AATGCTCAGGCCCACTGGGAATTGAAGGTGGAATTATATCAAACCAGCAAATCACAGCTTCCTCTACTCACCGAGCTCTTTTTGGACTCCAAAAATGGTATCCCTACTATGCACGTCTTAATAAGAAGGGGCTTATAAATGCGTGGACAGCTGCAGAAAATGACAGATGGCCGTGGATTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164176-'15-22,'15-20,19-22
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF0000822=EGF=WD(100=86.4),PF0000822=EGF=PU(7.9=6.8)
A:
PF0000822=EGF=PD(89.5=87.2)
C2:
PF0075420=F5_F8_type_C=PU(31.7=72.1)

Main Skipping Isoform:
ENST00000296591fB14493

Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AAGTGAAGCATACCGAGGGGA
R:
CATTTTCTGCAGCTGTCCACG
Band lengths:
245-359
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains