HsaEX6008603 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77323647-77328637:-
Coord C1 exon
chr7:77328606-77328637
Coord A exon
chr7:77326212-77326273
Coord C2 exon
chr7:77323647-77323742
Length
62 bp
Sequences
Splice sites
3' ss Seq
ATTGCTCTGTTTCATTTCAGGGC
3' ss Score
10.93
5' ss Seq
CTGGTAAGT
5' ss Score
10.65
Exon sequences
Seq C1 exon
GGTGATTTCTAACCTAGAAGCAAGAAATTTGG
Seq A exon
GGCCAAGATTAACACCCCTCCTGCAGGAGGAAGACAGCCACCAGCGGCTGCTCATGGGGCTG
Seq C2 exon
ATGGTGTCTGAGCTAAAAGACCATTTTTTGAGACACCTACAGGGTGTAGAAAAGAAGAAAATTGAACAGATGGTTCTGGACTACATTTCAAAACTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088-'48-64,'48-62,50-64=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:
NO
A:
PF149591=GSAP-16=PU(4.0=19.0)
C2:
PF149591=GSAP-16=PU(5.2=18.8)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GGTGATTTCTAACCTAGAAGCAAGA
R:
CAGTTTTGAAATGTAGTCCAGAACCA
Band lengths:
128-190
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains