HsaEX6098992 @ hg38
Exon Skipping
Gene
ENSG00000164176 | EDIL3
Description
EGF like repeats and discoidin domains 3 [Source:HGNC Symbol;Acc:HGNC:3173]
Coordinates
chr5:84066451-84137354:-
Coord C1 exon
chr5:84137241-84137354
Coord A exon
chr5:84106649-84106830
Coord C2 exon
chr5:84066451-84066606
Length
182 bp
Sequences
Splice sites
3' ss Seq
TTTCCTGTTTTTGTTTCCAGAAT
3' ss Score
11.02
5' ss Seq
CAGGTAACA
5' ss Score
8.88
Exon sequences
Seq C1 exon
ACATAAATGAATGCGAAGTTGAGCCTTGCAAAAATGGTGGAATATGTACAGATCTTGTTGCTAACTATTCCTGTGAGTGCCCAGGCGAATTTATGGGAAGAAATTGTCAATACA
Seq A exon
AATGCTCAGGCCCACTGGGAATTGAAGGTGGAATTATATCAAACCAGCAAATCACAGCTTCCTCTACTCACCGAGCTCTTTTTGGACTCCAAAAATGGTATCCCTACTATGCACGTCTTAATAAGAAGGGGCTTATAAATGCGTGGACAGCTGCAGAAAATGACAGATGGCCGTGGATTCAG
Seq C2 exon
ATAAATTTGCAAAGGAAAATGAGAGTTACTGGTGTGATTACCCAAGGAGCCAAGAGGATTGGAAGCCCAGAGTATATAAAATCCTACAAAATTGCCTACAGTAATGATGGAAAGACTTGGGCAATGTACAAAGTGAAAGGCACCAATGAAGACATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164176-'19-29,'19-22,23-29=AN
Average complexity
A_S
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:
PF0000822=EGF=PD(89.5=87.2)
A:
PF0075420=F5_F8_type_C=PU(31.7=72.1)
C2:
PF0075420=F5_F8_type_C=FE(36.7=100)
Main Skipping Isoform:
ENST00000296591fB14491
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAATGCGAAGTTGAGCCTTGC
R:
GCCTTTCACTTTGTACATTGCCC
Band lengths:
247-429
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains