HsaEX6008597 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77377286-77382643:-
Coord C1 exon
chr7:77382574-77382643
Coord A exon
chr7:77381305-77381354
Coord C2 exon
chr7:77377286-77377390
Length
50 bp
Sequences
Splice sites
3' ss Seq
TCTTTGTTTTTCTTTTAAAGATA
3' ss Score
10.02
5' ss Seq
GTGGTAAAG
5' ss Score
3.86
Exon sequences
Seq C1 exon
TTTCTCTACCCACATATTGAAAGTCATCCTCTTCCAGAGAACCATCTGTTACTGATTTCAGAAGAGAAAT
Seq A exon
ATATTGAACAATTTCGTATCCATGTCGCCCAAGAAGATGGAAATAGAGTG
Seq C2 exon
GTGATTAAAAATTCTGGCCATCTCCCAAGAGACAGAATAGCTGAGGATTTCGTTTGGGCTCAGTGGGATATGTCAGAACAGAGATTATATTACATTGACCTGAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088-'15-20,'15-17,16-20=AN
Average complexity
A_C1
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
NO
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACCCACATATTGAAAGTCATCCTCT
R:
TATCCCACTGAGCCCAAACGA
Band lengths:
133-183
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains