HsaEX6008604 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77314370-77321403:-
Coord C1 exon
chr7:77321333-77321403
Coord A exon
chr7:77320725-77320819
Coord C2 exon
chr7:77314370-77314489
Length
95 bp
Sequences
Splice sites
3' ss Seq
GCTTTGTTTTTTTTACCCAGCAA
3' ss Score
5.55
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
CTGGATCTCATTTGCCACATCGTAGAAACCAATTGGAGGAAACATAATCTTCATTCCTGGGTTCTCCACTT
Seq A exon
CAATAGTCGTGGCAGTGCTGCTGAATTTGCAGTTTTTCACATCATGACCAGGATTCTGGAAGCTACAAACAGTTTGTTTTTACCTCTGCCTCCTG
Seq C2 exon
GTTTTCATACTCTGCACACCATCCTCGGGGTCCAGTGTCTCCCTTTGCATAACCTGCTGCATTGCATTGACAGTGGAGTGTTGCTTCTCACTGAAACAGCTGTCATAAGGCTCATGAAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088-'56-74,'56-69,58-74=AN
Average complexity
A_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=FE(20.0=100)
A:
PF149591=GSAP-16=PU(24.3=94.4)
C2:
PF149591=GSAP-16=FE(57.1=100),PF056127=DUF781=PU(23.9=53.7)
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:
TGGATCTCATTTGCCACATCGT
R:
ACAGCTGTTTCAGTGAGAAGCA
Band lengths:
173-268
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains