HsaEX1036262 @ hg38
Exon Skipping
Gene
ENSG00000159307 | SCUBE1
Description
signal peptide, CUB domain and EGF like domain containing 1 [Source:HGNC Symbol;Acc:HGNC:13441]
Coordinates
chr22:43319937-43339235:-
Coord C1 exon
chr22:43339104-43339235
Coord A exon
chr22:43320705-43320819
Coord C2 exon
chr22:43319937-43320065
Length
115 bp
Sequences
Splice sites
3' ss Seq
CCATTTGTGCCACTTCCTAGGTG
3' ss Score
8.49
5' ss Seq
GAGGTAATG
5' ss Score
8.73
Exon sequences
Seq C1 exon
GGTCAGTCGACGTGGATGAGTGCTCAGAGGGCACAGATGACTGCCACATCGATGCCATCTGTCAGAACACGCCCAAGTCCTACAAATGCCTCTGCAAGCCAGGCTACAAGGGGGAAGGCAAGCAGTGTGAAG
Seq A exon
GTGTGTGACCTTCCACAAGGTTTTAGCCTCACTGTGCCTTGGTTTCTTCAGTGCTCTTGCAAAATTGGAAGTGAGAATGGTGCCTGCATCACTGAGTTAATGTGGGATTGAAGAG
Seq C2 exon
ACATTGACGAGTGTGAGAATGACTACTACAATGGGGGCTGTGTCCACGAGTGCATCAACATCCCGGGGAACTACAGGTGTACCTGCTTTGATGGCTTCATGCTGGCACACGATGGACACAACTGCCTGG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000159307_CASSETTE1
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF129472=EGF_3=WD(100=80.0)
A:
NO
C2:
PF146701=FXa_inhibition=WD(100=86.4)
Main Inclusion Isoform:
ENST00000360835fB25292
Other Inclusion Isoforms:
NA
Associated events
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:
GACGTGGATGAGTGCTCAGAG
R:
CAGGCAGTTGTGTCCATCGTG
Band lengths:
252-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains