HsaEX0047661 @ hg38
Exon Skipping
Gene
ENSG00000186088 | GSAP
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77397346-77404615:-
Coord C1 exon
chr7:77404559-77404615
Coord A exon
chr7:77399468-77399537
Coord C2 exon
chr7:77397346-77397415
Length
70 bp
Sequences
Splice sites
3' ss Seq
TCCCACCTTCTGTCATGTAGGAC
3' ss Score
8.38
5' ss Seq
CTGGTAATT
5' ss Score
5.99
Exon sequences
Seq C1 exon
GATGATAAGGGAAATGTCGTCTTTGGATTATATGATTGTCAAACCAGACAAAATGAG
Seq A exon
GACTTCCCTGGTAGTGCATACAAGAGTGAACATGACCTAAACTGGTTGGATACAAGAGAATACTTTGCTG
Seq C2 exon
CTTCTATATACCTTTGAGAAAGACTTGCAAGTTTTCAGTTGCTCTGTCAACAGTGAAAGGACTTTGCTTG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX1-4/8=3-5
Average complexity
C1
Mappability confidence:
100%=100=100%
Protein Impact
In the CDS, with uncertain impact
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=0.000 C2=0.000
Domain overlap (PFAM):
C1:
PF105044=DUF2452=FE(26.5=100)
A:
PF105044=DUF2452=PD(32.4=91.7)
C2:
NO
Main Inclusion Isoform:
ENST00000257626fB5233
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Rat
(rn6)
No conservation detected
Cow
(bosTau6)
No conservation detected
Chicken
(galGal4)
No conservation detected
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GATGATAAGGGAAATGTCGTCTTTGG
R:
CAAGCAAAGTCCTTTCACTGTTGA
Band lengths:
127-197
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