HsaEX6046665 @ hg19
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]
Coordinates
chr6:33391254-33400029:+
Coord C1 exon
chr6:33391254-33391375
Coord A exon
chr6:33393575-33393680
Coord C2 exon
chr6:33399938-33400029
Length
106 bp
Sequences
Splice sites
3' ss Seq
CACACCCCCACCTCCCCTAGATA
3' ss Score
7.95
5' ss Seq
ATGGTACGG
5' ss Score
8.21
Exon sequences
Seq C1 exon
ATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGATCGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGATGAGGATGAG
Seq A exon
ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG
Seq C2 exon
AATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'1-3,'1-1,2-3=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=0.305 A=0.792 C2=0.889
Domain overlap (PFAM):
C1:
PF0016924=PH=PU(14.9=80.5)
A:
PF0016924=PH=FE(15.8=100)
C2:
PF0016924=PH=FE(13.5=100)
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:
GGGACCCTCTATGCACCGAA
R:
CCTCCATGCTGTACTGCTTCC
Band lengths:
178-284
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)