Special

HsaEX6019599 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241071576-241081793:+
Coord C1 exon
chr2:241071576-241071720
Coord A exon
chr2:241071796-241071878
Coord C2 exon
chr2:241081677-241081793
Length
83 bp
Sequences
Splice sites
3' ss Seq
CCCTCCCACCCTCTCTGCAGGTT
3' ss Score
12.35
5' ss Seq
CACGTGAGT
5' ss Score
9.3
Exon sequences
Seq C1 exon
CCCCCAGGGATGGCGCTGACAGACGCTGGCACCAGGGAGGACACCACCCTCGGGTGCTCAAGAACAGACCGCCCCCGGCGCGCCTGCCGGAGCTGCGCCTGCTCAATGACCACAGCGCCCCCGAGACCCCCACCCAGCCCCCCAG
Seq A exon
GTTCTCGGAGCTTGTGGACGGCAGAGGAAGAGTGAGCGCCAGGTTCGGTGGCTCACCCAGCAAAGCAGCCACCGTGAGATCAC
Seq C2 exon
ACGTCCCTGGCAACTGTTCAGAAAACCCCTGTCAGAACGGAGGCACTTGTGTGCCGGGCGCAGACGCCCACAGCTGTGACTGCGGGCCAGGGTTCAAAGGCAGACGCTGCGAGCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804-'63-82,'63-73,64-82=AN
Average complexity
A_C3
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.997 A=0.970 C2=0.100
Domain overlap (PFAM):

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


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
HIGH PSI
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CTCGGGTGCTCAAGAACAGAC
R:
GTCACAGCTGTGGGCGTC
Band lengths:
177-260
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains