Special

HsaEX6098993 @ hg38

Exon Skipping

Gene
Description
EGF like repeats and discoidin domains 3 [Source:HGNC Symbol;Acc:HGNC:3173]
Coordinates
chr5:84064700-84106830:-
Coord C1 exon
chr5:84106649-84106830
Coord A exon
chr5:84066451-84066606
Coord C2 exon
chr5:84064700-84064844
Length
156 bp
Sequences
Splice sites
3' ss Seq
GGTTGTGCTCGTCTTTTCAGATA
3' ss Score
10.04
5' ss Seq
ATGGTAAGA
5' ss Score
9.48
Exon sequences
Seq C1 exon
AATGCTCAGGCCCACTGGGAATTGAAGGTGGAATTATATCAAACCAGCAAATCACAGCTTCCTCTACTCACCGAGCTCTTTTTGGACTCCAAAAATGGTATCCCTACTATGCACGTCTTAATAAGAAGGGGCTTATAAATGCGTGGACAGCTGCAGAAAATGACAGATGGCCGTGGATTCAG
Seq A exon
ATAAATTTGCAAAGGAAAATGAGAGTTACTGGTGTGATTACCCAAGGAGCCAAGAGGATTGGAAGCCCAGAGTATATAAAATCCTACAAAATTGCCTACAGTAATGATGGAAAGACTTGGGCAATGTACAAAGTGAAAGGCACCAATGAAGACATG
Seq C2 exon
GTGTTTCGTGGAAACATTGATAACAACACTCCATATGCTAACTCTTTCACACCCCCCATAAAAGCTCAGTATGTAAGACTCTATCCCCAAGTTTGTCGAAGACATTGCACTTTGCGAATGGAACTTCTTGGCTGTGAACTGTCGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000164176-'23-30,'23-29,28-30=AN
Average complexity
A_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:
PF0075420=F5_F8_type_C=PU(31.7=72.1)
A:
PF0075420=F5_F8_type_C=FE(36.7=100)
C2:
PF0075420=F5_F8_type_C=PD(29.5=83.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCGAGCTCTTTTTGGACTCC
R:
CCGACAGTTCACAGCCAAGAA
Band lengths:
258-414
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains