Special

HsaEX0060665 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241073266-241081793:+
Coord C1 exon
chr2:241073266-241073364
Coord A exon
chr2:241074313-241074398
Coord C2 exon
chr2:241081677-241081793
Length
86 bp
Sequences
Splice sites
3' ss Seq
CCCCGCCCTCACCATACAAGGTC
3' ss Score
5.57
5' ss Seq
CAGGTGTGG
5' ss Score
6.34
Exon sequences
Seq C1 exon
AACCCACAGCCTCGGCGCAGCTCGAGAACATGGAGGAAGCCCCCAAGCGGGTCAGCCTGGCCCTCCAGCTCCCTGAACACGGCAGCAAGGACATCGGAA
Seq A exon
GTCTGGACTTGCTGCTAGCCCCTGTGAGCACCAGGAGGACTGGTTTGTGCATCCGACGCAGAGAGTGAAGGATTCTCTTAATTCAG
Seq C2 exon
ACGTCCCTGGCAACTGTTCAGAAAACCCCTGTCAGAACGGAGGCACTTGTGTGCCGGGCGCAGACGCCCACAGCTGTGACTGCGGGCCAGGGTTCAAAGGCAGACGCTGCGAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804_MULTIEX3-3/3=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.916 A=0.455 C2=0.100
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0000822=EGF=WD(100=77.5)


Main Inclusion Isoform:
ENST00000310397fB6580


Main Skipping Isoform:


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTCGAGAACATGGAGGAAGC
R:
CTGCCTTTGAACCCTGGCC
Band lengths:
183-269
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • The Cancer Genome Atlas (TCGA)
  • Genotype-Tissue Expression Project (GTEx)
  • Autistic and control brains
  • Pre-implantation embryo development