HsaEX0047671 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77311841-77313549:-
Coord C1 exon
chr7:77313488-77313549
Coord A exon
chr7:77312101-77312202
Coord C2 exon
chr7:77311841-77311940
Length
102 bp
Sequences
Splice sites
3' ss Seq
TTTTTCAATTTGCATAATAGCTT
3' ss Score
5.5
5' ss Seq
CAGGTGAGT
5' ss Score
10.67
Exon sequences
Seq C1 exon
ATCTGGATAATACAGAGAAAAATGAAAAACTGAAATTCAGTATCATTGTGCGGCTTCCTCCG
Seq A exon
CTTATTGGGCAGAAGATTTGTAGACTTTGGGATCATCCTATGAGTTCTAACATCATTTCGCGGAACCACGTGACGCGACTGCTTCAGAACTATAAGAAACAG
Seq C2 exon
CCTCGGAATTCTATGATTAACAAGTCATCGTTCAGTGTAGAATTTCTGCCTCTGAACTACTTCATTGAAATTCTGACAGATATAGAGTCCTCCAATCAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX3-1/2=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
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:
PF149591=GSAP-16=PD(17.1=57.1),PF056127=DUF781=FE(21.7=100)
A:
PF056127=DUF781=FE(35.9=100)
C2:
PF056127=DUF781=PD(15.2=41.2)
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:
TGAAATTCAGTATCATTGTGCGGC
R:
TGATTGGAGGACTCTATATCTGTCA
Band lengths:
130-232
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development