Special

HsaEX0060675 @ hg19

Exon Skipping

Gene
Description
sushi, nidogen and EGF-like domains 1 [Source:HGNC Symbol;Acc:24696]
Coordinates
chr2:241976657-241987857:+
Coord C1 exon
chr2:241976657-241976770
Coord A exon
chr2:241979717-241979830
Coord C2 exon
chr2:241987732-241987857
Length
114 bp
Sequences
Splice sites
3' ss Seq
GCACCTCTGCTGCCCCTCAGATG
3' ss Score
7.92
5' ss Seq
CAGGTAACT
5' ss Score
8.63
Exon sequences
Seq C1 exon
ACGTGAACGAATGTGCCTCCCAGCCCTGTCAGAATGGTGGGACCTGTACTCACGGCATCAACAGTTTCCGCTGCCAGTGCCCGGCTGGCTTTGGGGGACCCACCTGTGAGACAG
Seq A exon
ATGTGGACGACTGCAGCCCTGACCCCTGCCTGAATGGAGGCTCTTGTGTTGACCTAGTGGGGAATTACACCTGCTTGTGTGCCGAGCCCTTCAAGGGACTTCGCTGTGAGACAG
Seq C2 exon
GAGACCATCCAGTGCCAGACGCCTGCCTCTCGGCCCCTTGCCACAATGGGGGCACCTGTGTGGATGCGGACCAGGGCTACGTGTGCGAGTGCCCCGAAGGCTTCATGGGCCTGGACTGCAGGGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804_MULTIEX1-2/2=C1-C2
Average complexity
C3
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.001 A=0.000 C2=0.000
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=79.5)
A:
PF0000822=EGF=WD(100=79.5)
C2:
PF0000822=EGF=WD(100=72.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
HIGH PSI
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACGTGAACGAATGTGCCTCC
R:
TGCAGTCCAGGCCCATGAAG
Band lengths:
234-348
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