Special

HsaEX0056659 @ hg38

Exon Skipping

Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain and EGF like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:13441]
Coordinates
chr22:43238838-43262845:-
Coord C1 exon
chr22:43262720-43262845
Coord A exon
chr22:43258219-43258335
Coord C2 exon
chr22:43238838-43238954
Length
117 bp
Sequences
Splice sites
3' ss Seq
TACACTTTGGGCCTAACTAGTAA
3' ss Score
2.38
5' ss Seq
TCGGTAAGT
5' ss Score
11.78
Exon sequences
Seq C1 exon
AGGGTATGAACTGCATGAACAAAGACCATGGCTGTGCCCACATCTGCCGGGAGACGCCCAAAGGTGGGGTGGCCTGCGACTGCAGGCCCGGCTTTGACCTTGCCCAAAACCAGAAGGACTGCACAC
Seq A exon
TAACCTGTAATTATGGAAACGGAGGCTGCCAGCACAGCTGTGAGGACACAGACACAGGCCCCACGTGTGGTTGCCACCAGAAGTACGCCCTCCACTCAGACGGTCGCACGTGCATCG
Seq C2 exon
AGACGTGCGCAGTCAATAACGGAGGCTGCGACCGGACATGCAAGGACACAGCCACTGGCGTGCGATGCAGCTGCCCCGTTGGATTCACACTGCAGCCGGACGGGAAGACATGCAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307_MULTIEX2-3/4=2-C2
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact

Alternative protein isoforms (Ref)

No structure available
Features
Disorder rate (Iupred):
  C1=0.000 A=0.000 C2=0.001
Domain overlap (PFAM):

C1:
PF146701=FXa_inhibition=WD(100=86.0)
A:
PF146701=FXa_inhibition=WD(100=90.0)
C2:
PF146701=FXa_inhibition=WD(100=90.0)


Main Inclusion Isoform:


Main Skipping Isoform:
ENST00000360835fB25291


Other Inclusion Isoforms:


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
HIGH PSI
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
AGGGTATGAACTGCATGAACA
R:
CTTTGCATGTCTTCCCGTCCG
Band lengths:
243-360
Functional annotations
There are 0 annotated functions for this event


GENOMIC CONTEXT[edit]

INCLUSION PATTERN[edit]


SPECIAL DATASETS

  • Autistic and control brains
  • Pre-implantation embryo development