HsaEX0047664 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77326212-77349404:-
Coord C1 exon
chr7:77349351-77349404
Coord A exon
chr7:77330239-77330367
Coord C2 exon
chr7:77326212-77326273
Length
129 bp
Sequences
Splice sites
3' ss Seq
GATGTTTTTGTCTCCTACAGGTG
3' ss Score
12.92
5' ss Seq
GAGGTATGA
5' ss Score
8.55
Exon sequences
Seq C1 exon
GAAATTCCTGGAATAACTCTTGTGACAGAAGACATTGCATTGCCTCTTATGAAG
Seq A exon
GTGCTCAGCTTTAAGGGCTACTGGGAAAAACTGAACTCCAACCTAGAATATGTTAAGTACGCCAAGCCACACTTCCACTATAACAACAGTGTGGTCAGGAGAGAGTGGCACAACCTGATCTCTGAAGAG
Seq C2 exon
GGCCAAGATTAACACCCCTCCTGCAGGAGGAAGACAGCCACCAGCGGCTGCTCATGGGGCTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX4-3/5=1-C2
Average complexity
C2*
Mappability confidence:
80%=100=80%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
NO
A:
NO
C2:
PF149591=GSAP-16=PU(4.0=19.0)
Main Skipping Isoform:
ENST00000257626fB5234
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GAAATTCCTGGAATAACTCTTGTGAC
R:
CTGGTGGCTGTCTTCCTCCT
Band lengths:
98-227
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