HsaEX6046666 @ hg38
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33420260-33425903:+
Coord C1 exon
chr6:33420260-33420331
Coord A exon
chr6:33423477-33423598
Coord C2 exon
chr6:33425798-33425903
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
GCCTGATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCCTTCAGAG
Seq A exon
ATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGATCGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGATGAGGATGAG
Seq C2 exon
ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'2-16,'2-10,9-16
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.543 A=0.304 C2=0.821
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 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:
GATGAGCAGGTCTCGAGCCTC
R:
TGCGTCTCAGCAGTTTGTTGC
Band lengths:
132-254
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains