HsaEX0063193 @ hg19
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]
Coordinates
chr6:33400462-33403390:+
Coord C1 exon
chr6:33400462-33400583
Coord A exon
chr6:33402929-33403082
Coord C2 exon
chr6:33403292-33403390
Length
154 bp
Sequences
Splice sites
3' ss Seq
CTGAACCTCCTGCCTGCCAGGGC
3' ss Score
7.06
5' ss Seq
GAGGTACTG
5' ss Score
7.67
Exon sequences
Seq C1 exon
CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCG
Seq A exon
GGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAG
Seq C2 exon
GTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'5-6,'5-5,6-6
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.443 A=0.234 C2=0.121
Domain overlap (PFAM):
C1:
PF0016924=PH=PU(24.8=65.9)
A:
PF0016924=PH=FE(23.0=100)
C2:
PF0016924=PH=PD(13.1=87.9)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCGACGGCTAAAAAGCTCCAT
R:
GGCTTTACTGCCCGCTGC
Band lengths:
200-354
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
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)