HsaEX0047666 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77320725-77323742:-
Coord C1 exon
chr7:77323647-77323742
Coord A exon
chr7:77321333-77321403
Coord C2 exon
chr7:77320725-77320819
Length
71 bp
Sequences
Splice sites
3' ss Seq
GGACTGTCTTCACCCTCCAGCTG
3' ss Score
7.59
5' ss Seq
CTTGTACGC
5' ss Score
1.9
Exon sequences
Seq C1 exon
ATGGTGTCTGAGCTAAAAGACCATTTTTTGAGACACCTACAGGGTGTAGAAAAGAAGAAAATTGAACAGATGGTTCTGGACTACATTTCAAAACTG
Seq A exon
CTGGATCTCATTTGCCACATCGTAGAAACCAATTGGAGGAAACATAATCTTCATTCCTGGGTTCTCCACTT
Seq C2 exon
CAATAGTCGTGGCAGTGCTGCTGAATTTGCAGTTTTTCACATCATGACCAGGATTCTGGAAGCTACAAACAGTTTGTTTTTACCTCTGCCTCCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX5-2/2=1-C2
Average complexity
S
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:
PF149591=GSAP-16=PU(5.2=18.8)
A:
PF149591=GSAP-16=FE(20.0=100)
C2:
PF149591=GSAP-16=PU(24.3=94.4)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
TGGTGTCTGAGCTAAAAGACCA
R:
ACTGTTTGTAGCTTCCAGAATCCTG
Band lengths:
168-239
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