Special

HsaEX0060661 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241040300-241048440:+
Coord C1 exon
chr2:241040300-241040413
Coord A exon
chr2:241044420-241044530
Coord C2 exon
chr2:241048315-241048440
Length
111 bp
Sequences
Splice sites
3' ss Seq
CTCTCCCCCACTGAATACAGCTA
3' ss Score
4.15
5' ss Seq
GTGGTGAGT
5' ss Score
8.95
Exon sequences
Seq C1 exon
ATGTGGACGACTGCAGCCCTGACCCCTGCCTGAATGGAGGCTCTTGTGTTGACCTAGTGGGGAATTACACCTGCTTGTGTGCCGAGCCCTTCAAGGGACTTCGCTGTGAGACAG
Seq A exon
CTACAATCCTGGACAGAATGCATGGAGTAGCTGTCAGAGGACTCTGAAAAGTAAATAGTAGCAGGTGGATTGGGGAAGAAGACCAAGCTTCGAAGTACCACCAAACCAGTG
Seq C2 exon
GAGACCATCCAGTGCCAGACGCCTGCCTCTCGGCCCCTTGCCACAATGGGGGCACCTGTGTGGATGCGGACCAGGGCTACGTGTGCGAGTGCCCCGAAGGCTTCATGGGCCTGGACTGCAGGGAGA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804_MULTIEX2-3/4=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence inclusion

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

C1:
PF0000822=EGF=WD(100=79.5)
A:
NO
C2:
PF0000822=EGF=WD(100=72.1)


Main Inclusion Isoform:
ENST00000310397fB6577


Main Skipping Isoform:


Other Inclusion Isoforms:
NA
Other assemblies
Conservation
Mouse
(mm10)
No conservation detected
Mouse
(mm9)
No conservation detected
Rat
(rn6)
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:
ATGTGGACGACTGCAGCCC
R:
TGCAGTCCAGGCCCATGAAG
Band lengths:
234-345
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