HsaEX6046663 @ hg38
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33425798-33435305:+
Coord C1 exon
chr6:33425798-33425903
Coord A exon
chr6:33432685-33432806
Coord C2 exon
chr6:33435152-33435305
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
ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG
Seq A exon
CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCG
Seq C2 exon
GGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283_MULTIEX1-3/4=C1-4
Average complexity
C3*
Mappability confidence:
100%=100=100%
Protein Impact
ORF disruption upon sequence exclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.821 A=0.451 C2=0.227
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(15.8=100)
A:
PF0016924=PH=PU(24.8=65.9)
C2:
PF0016924=PH=FE(23.0=100)
Main Skipping Isoform:
NA
Other Inclusion Isoforms:
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ATACACCCCCTACTGATCCGG
R:
CTGGCCCAGGATGGAGCT
Band lengths:
245-367
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains