Special

HsaEX0060674 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241037240-241048440:+
Coord C1 exon
chr2:241037240-241037353
Coord A exon
chr2:241040075-241040188
Coord C2 exon
chr2:241048315-241048440
Length
114 bp
Sequences
Splice sites
3' ss Seq
TCTACACCTCCTCACTCTAGCCC
3' ss Score
6.79
5' ss Seq
TGGGTGAGT
5' ss Score
8.73
Exon sequences
Seq C1 exon
ACGTGAACGAATGTGCCTCCCAGCCCTGTCAGAATGGTGGGACCTGTACTCACGGCATCAACAGTTTCCGCTGCCAGTGCCCGGCTGGCTTTGGGGGACCCACCTGTGAGACAG
Seq A exon
CCCAATCCCCCTGTGACACCAAAGAGTGTCAACATGGTGGCCAGTGCCAGGTGGAGAATGGCTCTGCGGTGTGTGTGTGCCAGGCCGGATACACCGGAGCAGCCTGCGAGATGG
Seq C2 exon
GAGACCATCCAGTGCCAGACGCCTGCCTCTCGGCCCCTTGCCACAATGGGGGCACCTGTGTGGATGCGGACCAGGGCTACGTGTGCGAGTGCCCCGAAGGCTTCATGGGCCTGGACTGCAGGGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804_MULTIEX2-1/4=C1-C2
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

Show structural model
Features
Disorder rate (Iupred):
  C1=0.001 A=0.000 C2=0.004
Domain overlap (PFAM):

C1:
PF0000822=EGF=WD(100=79.5)
A:
PF0000822=EGF=WD(100=76.9)
C2:
PF0000822=EGF=WD(100=72.1)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
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

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