Special

HsaEX0021589 @ hg38

Exon Skipping

Gene
Description
EGF like repeats and discoidin domains 3 [Source:HGNC Symbol;Acc:HGNC:3173]
Coordinates
chr5:84137241-84229884:-
Coord C1 exon
chr5:84229855-84229884
Coord A exon
chr5:84180393-84180521
Coord C2 exon
chr5:84137241-84137354
Length
129 bp
Sequences
Splice sites
3' ss Seq
TATTTTTTTCTGTCTTTCAGGTC
3' ss Score
13.49
5' ss Seq
ACAGTAAGT
5' ss Score
9.49
Exon sequences
Seq C1 exon
CATCAGATGAAGAAGAACCAACTTCAGCAG
Seq A exon
GTCCCTGCACTCCTAATCCATGCCATAATGGAGGAACCTGTGAAATAAGTGAAGCATACCGAGGGGATACATTCATAGGCTATGTTTGTAAATGTCCCCGAGGATTTAATGGGATTCACTGTCAGCACA
Seq C2 exon
ACATAAATGAATGCGAAGTTGAGCCTTGCAAAAATGGTGGAATATGTACAGATCTTGTTGCTAACTATTCCTGTGAGTGCCCAGGCGAATTTATGGGAAGAAATTGTCAATACA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164176-'8-20,'8-16,15-20
Average complexity
C1
Mappability confidence:
94%=90=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.159 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
NO
A:
PF0000822=EGF=WD(100=86.4),PF0000822=EGF=PU(7.9=6.8)
C2:
PF0000822=EGF=PD(89.5=87.2)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CATCAGATGAAGAAGAACCAACTTCA
R:
TGACAATTTCTTCCCATAAATTCGCC
Band lengths:
139-268
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development