HsaEX6046665 @ hg38
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33423477-33432252:+
Coord C1 exon
chr6:33423477-33423598
Coord A exon
chr6:33425798-33425903
Coord C2 exon
chr6:33432161-33432252
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-'9-23,'9-16,20-23
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.304 A=0.821 C2=0.878
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 Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
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