Special

HsaEX6019614 @ hg38

Exon Skipping

Gene
Description
sushi, nidogen and EGF like domains 1 [Source:HGNC Symbol;Acc:HGNC:24696]
Coordinates
chr2:241033735-241036915:+
Coord C1 exon
chr2:241033735-241033875
Coord A exon
chr2:241034568-241034730
Coord C2 exon
chr2:241036790-241036915
Length
163 bp
Sequences
Splice sites
3' ss Seq
TGCCCCCACCCCACCCCCAGGCT
3' ss Score
8.63
5' ss Seq
CAAGTAAGA
5' ss Score
7.61
Exon sequences
Seq C1 exon
GTCAACACATTCCAGACTGTGCTCATCACAGACGGCAAGCTCTCCTTCACCATCTTCAACTATGAGTCCATCGTGTGGACCACAGGCACACACGCCAGCAGCGGGGGCAACGCCACTGGCCTCGGGGGCATCGCAGCCCAG
Seq A exon
GCTGGCTTCAACGCAGGCGATGGGCAGCGTTACTTCAGTATCCCCGGCTCGCGCACAGCAGACATGGCCGAGGTGGAGACCACCACCAACGTGGGTGTGCCCGGGCGCTGGGCGTTCAGAATCGATGATGCCCAGGTGCGCGTGGGGGGCTGCGGCCATACAA
Seq C2 exon
CGTCCGTGTGCCTGGCCCTGCGCCCCTGCCTCAACGGCGGCAAGTGCATCGACGACTGCGTCACGGGCAACCCCTCCTACACCTGCTCCTGCCTCTCGGGCTTCACGGGGCGGAGGTGCCACCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000162804-'12-12,'12-10,14-12
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.006 A=0.063 C2=0.000
Domain overlap (PFAM):

C1:
PF061199=NIDO=PU(50.5=97.9)
A:
PF061199=NIDO=PD(47.3=78.2)
C2:
PF0000822=EGF=WD(100=83.7)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:


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:
ACACATTCCAGACTGTGCTCA
R:
CCCCGTGAAGCCCGAGAG
Band lengths:
247-410
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains