HsaEX0063195 @ hg38
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33419909-33443960:+
Coord C1 exon
chr6:33419909-33441759
Coord A exon
chr6:33442453-33442494
Coord C2 exon
chr6:33442889-33443960
Length
42 bp
Sequences
Splice sites
3' ss Seq
CTCTTTCCATCTCTCTCCAGCTC
3' ss Score
11.3
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
Exon sequences
Seq C1 exon
CTCCAATCTGGACACGCTAACCAACAGCAGTAGCTTTGAGGGTTACATCGACTTGGGCCGAGAGCTCTCCACACTGCATGCCCTACTCTGGGAGGTGCTGCCCCAGCTCAGCAAGGTCAGCAGATCCCCTCTTTGCCCTATCCCCAGATGGCTCCAGAGGTTCCTGGAGCCTGAGAAACTACCCTTTGAAGATTTTTTTTCTCCCCTTGTTTCTCGAGGTGTCACCACTACTATCCCAACTCAGGCCCCCTCCACCTGCACCCTCAGAGGCCCTCTTAGAGCTGGGCACTGAGCCCCCAGGTAACAGCCTCACCCTTCCAGGAAGCCCTCCTGAAGCTGGGTCCACTGCCCCGGCTCCTCAACGACATCAGCACAGCTCTGAGGAACCCCAACATCCAAAGGCAGCCAAGCCGCCAGAGTGAGCGGCCCCGGCCTCAGCCTGTGGTACTGCGGGGGCCATCGGCTGAGATGCAGGGCTACATGATGCGGGACCTCAACAG
Seq A exon
CTCCATCGACCTTCAGTCCTTCATGGCTCGAGGCCTCAACAG
Seq C2 exon
CTCTATGGACATGGCTCGCCTCCCCTCCCCAACCAAGGAAAAGCCACCCCCACCACCGCCTGGTGGTGGTAAAGACCTGTTCTATGTAAGCCGTCCACCCCTGGCCCGTTCCTCACCAGCATACTGCACGAGCAGCTCGGACATCACAGAGCCAGAGCAGAAGATGCTGAGTGTCAACAAGAGTGTGTCCATGCTGGACTTACAGGGTGATGGGCCTGGTGGCCGCCTCAACAGCAGCAGTGTTTCGAACCTGGCGGCCGTAGGGGACCTGCTGCACTCAAGCCAGGCCTCGCTGACAGCAGCCTTGGGGCTACGGCCTGCGCCTGCCGGACGCCTCTCCCAGGGGAGTGGCTCATCCATCACGGCGGCTGGCATGCGCCTCAGCCAGATGGGTGTCACCACAGACGGTGTCCCTGCCCAGCAACTGCGAATCCCCCTCTCCTTCCAGAACCCTCTCTTCCACATGGCTGCTGATGGGCCAGGTCCCCCAGGCGGCCATG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-'50-49,'50-48,52-49
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.570 A=0.160 C2=0.953
Domain overlap (PFAM):
C1:
PF120043=DUF3498=PU(56.6=78.3)
A:
PF120043=DUF3498=FE(15.7=100)
C2:
PF120043=DUF3498=PD(22.9=79.2)
Other Skipping Isoforms:
NA
Associated events
Other assemblies
Conservation
Chicken
(galGal3)
No conservation detected
Zebrafish
(danRer10)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GCTGAGATGCAGGGCTACATG
R:
GGGGTGGACGGCTTACATAGA
Band lengths:
139-181
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- The Cancer Genome Atlas (TCGA)
- Genotype-Tissue Expression Project (GTEx)
- Autistic and control brains
- Pre-implantation embryo development