HsaEX0063192 @ hg19
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]
Coordinates
chr6:33416566-33421466:+
Coord C1 exon
chr6:33416566-33416645
Coord A exon
chr6:33419349-33419370
Coord C2 exon
chr6:33419537-33421466
Length
22 bp
Sequences
Splice sites
3' ss Seq
TCTCTTCTCTCTGATCCCAGAGG
3' ss Score
8.35
5' ss Seq
CAGGTGAGA
5' ss Score
9.22
Exon sequences
Seq C1 exon
CTCCTCATCAGGTAATTCTCCTGGTTCCGCTTTGGCCACGGGCGGAGGACACAGGGGGAGGTGACTCCGGACCACTGCAG
Seq A exon
AGGACGTTAACTTCTACTGCAG
Seq C2 exon
GAGAGGCAGCTTCCCCCCTTGGGTCCAACAAACCCGCGTGTGACGCTGGCCCCACCGTGGAATGGCCTGGCCCCCCCAGCCCCACCACCCCCACCCCGGCTGCAGATTACGGAGAACGGCGAGTTCCGAAACACCGCAGACCACTAGCCCACCCAGCATCAGAGACCTTCTCTTCCTTTCCTGTGCACCCCACCCTGTAACAGCACCAACCACCAGGATTGGACATCACCGAGGAACAGCGGGATTGCCTCCCCGAATGCCTCCCTGGGAGGCACACTGATTGCCCACCCCCACCACTGCACCATTTCCAGGAGGGAGAGTGGGGACCCTCAGCCGCCCCCTTTTCCTTCCCATTGGGGTGCTGCCCTCTCTTTGACCCCCAGGGACCCTTGCCCCAGGACACCGCCTACCCCGTACAGACCCCTTCACTCCGGGGTGCTATCCCCATCCTCTGCCTCATCGTTCCCCTGAGCACTGGGGGACAGACCCTCACCCCCACC
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'24-30,'24-29,27-30
Average complexity
C2
Mappability confidence:
100%=83=100%
Protein Impact
5' UTR
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=1.000 C2=1.000
Domain overlap (PFAM):
C1:
PF120043=DUF3498=PD(0.2=20.0)
A:
NA
C2:
PF120043=DUF3498=PD(2.9=34.7)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
NA
Associated events
Conservation
Rat
(rn6)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATTCTCCTGGTTCCGCTTTGG
R:
CACACGCGGGTTTGTTGGA
Band lengths:
108-130
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development
Other AS DBs:
FasterDB (Includes CLIP-seq data)
AS-ALPS (AS-induced ALteration of Protein Structure, links to PINs)
APPRIS (Selection of principal isoform)
DEU primates (Only for human)