Special

HsaEX6019599 @ hg19

Exon Skipping

Gene
Description
sushi, nidogen and EGF-like domains 1 [Source:HGNC Symbol;Acc:24696]
Coordinates
chr2:242010991-242021208:+
Coord C1 exon
chr2:242010991-242011135
Coord A exon
chr2:242011211-242011293
Coord C2 exon
chr2:242021092-242021208
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-'38-47,'38-43,39-47=AN
Average complexity
A_C2
Mappability confidence:
100%=100=100%
Protein Impact

ORF disruption upon sequence exclusion

No structure available
Features
Disorder rate (Iupred):
  C1=0.997 A=0.971 C2=0.100
Domain overlap (PFAM):

C1:
NO
A:
NO
C2:
PF0000822=EGF=WD(100=77.5),PF055076=MAGP=PU(38.2=85.0)


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
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