HsaEX6098995 @ hg38
Exon Skipping
Gene
ENSG00000164176 | EDIL3
Description
EGF like repeats and discoidin domains 3 [Source:HGNC Symbol;Acc:HGNC:3173]
Coordinates
chr5:83963205-84064844:-
Coord C1 exon
chr5:84064700-84064844
Coord A exon
chr5:84060300-84060484
Coord C2 exon
chr5:83963205-83963360
Length
185 bp
Sequences
Splice sites
3' ss Seq
CCCTTCTCATTTTCTTTCAGGTT
3' ss Score
12.95
5' ss Seq
CAGGTAAAG
5' ss Score
9.65
Exon sequences
Seq C1 exon
GTGTTTCGTGGAAACATTGATAACAACACTCCATATGCTAACTCTTTCACACCCCCCATAAAAGCTCAGTATGTAAGACTCTATCCCCAAGTTTGTCGAAGACATTGCACTTTGCGAATGGAACTTCTTGGCTGTGAACTGTCGG
Seq A exon
GTTGTTCTGAGCCTCTGGGTATGAAATCAGGACATATACAAGACTATCAGATCACTGCCTCCAGCATCTTCAGAACGCTCAACATGGACATGTTCACTTGGGAACCAAGGAAAGCTCGGCTGGACAAGCAAGGCAAAGTGAATGCCTGGACCTCTGGCCACAATGACCAGTCACAATGGTTACAG
Seq C2 exon
GTGGATCTTCTTGTTCCAACCAAAGTGACTGGCATCATTACACAAGGAGCTAAAGATTTTGGTCATGTACAGTTTGTTGGCTCCTACAAACTGGCTTACAGCAATGATGGAGAACACTGGACTGTATACCAGGATGAAAAGCAAAGAAAAGATAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164176-'29-39,'29-31,30-39=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=0.081 C2=0.013
Domain overlap (PFAM):
C1:
PF0075420=F5_F8_type_C=PD(29.5=83.7)
A:
PF0075420=F5_F8_type_C=PU(32.1=72.6)
C2:
PF0075420=F5_F8_type_C=FE(36.4=100)
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:
TGCTAACTCTTTCACACCCCC
R:
TCATCCTGGTATACAGTCCAGTGT
Band lengths:
247-432
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains