HsaEX0047657 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77397346-77416400:-
Coord C1 exon
chr7:77416213-77416400
Coord A exon
chr7:77406029-77406105
Coord C2 exon
chr7:77397346-77397415
Length
77 bp
Sequences
Splice sites
3' ss Seq
ACCTCCTATTATCATTTCAGATG
3' ss Score
9.68
5' ss Seq
AAGGTATGT
5' ss Score
9.79
Exon sequences
Seq C1 exon
CGAGGGCGAGGCGGCCACGCGGGGCCGGGAATGCCCGCGGTGCGGGGCCCCAGAGCCGCCCGGTGGTCGTGTCCGGGCGATGGCTCTTCGCCTGGTCGCCGACTTCGACCTCGGGAAGGACGTGCTCCCGTGGTTGCGGGCGCAGCGGGCAGTGTCGGAGGCCAGCGGGGCCGGAAGCGGCGGCGCAG
Seq A exon
ATGTTTTAGAAAACGATTATGAGAGCTTACATGTATTAAATGTTGAAAGAAATGGAAATATTATTTATACCTATAAG
Seq C2 exon
CTTCTATATACCTTTGAGAAAGACTTGCAAGTTTTCAGTTGCTCTGTCAACAGTGAAAGGACTTTGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX1-2/8=C1-5
Average complexity
C3*
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:
PF105044=DUF2452=PU(0.1=0.0)
A:
PF105044=DUF2452=PU(36.8=96.2)
C2:
NO
Main Skipping Isoform:
ENST00000257626fB16741
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:
TCCGGGCGATGGCTCTTC
R:
GTCCTTTCACTGTTGACAGAGCA
Band lengths:
179-256
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