HsaEX6046663 @ hg19
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:11497]
Coordinates
chr6:33399938-33403082:+
Coord C1 exon
chr6:33399938-33400029
Coord A exon
chr6:33400462-33400583
Coord C2 exon
chr6:33402929-33403082
Length
122 bp
Sequences
Splice sites
3' ss Seq
CATCCCCATTTCCCCCCCAGCAA
3' ss Score
8.34
5' ss Seq
CCGGTACAG
5' ss Score
5.65
Exon sequences
Seq C1 exon
AATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCG
Seq A exon
CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCG
Seq C2 exon
GGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'4-5,'4-4,5-5=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=0.889 A=0.443 C2=0.234
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(13.5=100)
A:
PF0016924=PH=PU(24.8=65.9)
C2:
PF0016924=PH=FE(23.0=100)
Main Skipping Isoform:
NA
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CACTTGGGTCGCTCGAGGAG
R:
CTGGCCCAGGATGGAGCT
Band lengths:
226-348
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)