HsaEX6046666 @ hg19
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]
Coordinates
chr6:33387847-33393680:+
Coord C1 exon
chr6:33387847-33388108
Coord A exon
chr6:33391254-33391375
Coord C2 exon
chr6:33393575-33393680
Length
122 bp
Sequences
Splice sites
3' ss Seq
TGTGTGTCTCTGTCCTCCAGATG
3' ss Score
12.27
5' ss Seq
GAGGTGAGT
5' ss Score
10.03
Exon sequences
Seq C1 exon
TCTCGGCTGCCGCTGCTGCCGTTGGCTCTTATTCTCCTCCTCCTCCTCCTCTCTCCTCCTCTCTGCTTCTCTCTGCTCCTCTCTCCTCCTCTCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTTCTCCCCCTCTTTCTCCCCCTCTTTCTCTCTTCTTTCTCCCCCGTCCCCCCGCCCCCTCCCCCCAGGCCTGATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCCTTCAGAG
Seq A exon
ATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGATCGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGATGAGGATGAG
Seq C2 exon
ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'0-1,'0-0,1-1=AN
Average complexity
A_S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.492 A=0.305 C2=0.792
Domain overlap (PFAM):
C1:
NO
A:
PF0016924=PH=PU(14.9=80.5)
C2:
PF0016924=PH=FE(15.8=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
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:
TGCTCCTCTCTCCTCCTCTCT
R:
AGTTTGTTGCGACTGGACTCG
Band lengths:
242-364
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
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)