Special

HsaEX0047667 @ hg38

Exon Skipping

Gene
Description
gamma-secretase activating protein [Source:HGNC Symbol;Acc:HGNC:28042]
Coordinates
chr7:77374070-77376907:-
Coord C1 exon
chr7:77376848-77376907
Coord A exon
chr7:77375058-77375101
Coord C2 exon
chr7:77374070-77374155
Length
44 bp
Sequences
Splice sites
3' ss Seq
TTCTTTGATTTTTTTGACAGTTT
3' ss Score
7.9
5' ss Seq
TAAGTAAGT
5' ss Score
8.07
Exon sequences
Seq C1 exon
AAATCAAGGAGTATCTTAAAATGTATCCAGTTTTATGCTGATGAGAGCTATAACTTAATG
Seq A exon
TTTGAAGTACCCTTGGACATATCATTAAGCAACTCAGGATTTAA
Seq C2 exon
ACTTGTCAACTTTGGATGTGATTATCATCAATACCGAGATAAATTTTCCAAACACCTGACTCTGTGTGTTTTTACCAACCATACAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000186088_MULTIEX2-1/2=C1-2
Average complexity
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:
NO
C2:
NO


Main Inclusion Isoform:


Main Skipping Isoform:
NA


Other Inclusion Isoforms:
NA


Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal4)
ALTERNATIVE
Chicken
(galGal3)
ALTERNATIVE
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTATCCAGTTTTATGCTGATGAGAGC
R:
CTGTATGGTTGGTAAAAACACACA
Band lengths:
124-168
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