HsaEX1039785 @ hg38
Exon Skipping
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33425798-33432252:+
Coord C1 exon
chr6:33425798-33425903
Coord A exon
chr6:33431945-33432028
Coord C2 exon
chr6:33432161-33432252
Length
84 bp
Sequences
Splice sites
3' ss Seq
TCCCACCCCATCCCCCTCAGGGG
3' ss Score
8.12
5' ss Seq
GGGGTAGGT
5' ss Score
6.59
Exon sequences
Seq C1 exon
ATACACCCCCTACTGATCCGGGACCGGAGGAGCGAGTCCAGTCGCAACAAACTGCTGAGACGCACAGTCTCCGTGCCGGTGGAGGGGCGGCCCCACGGCGAGCATG
Seq A exon
GGGGCTCCTGCTCAGGTTCCTTGCCCCCTCCTTCCCGCTGCCAGCCTCTCCGCCGTCGCTGCTCTTCCTGCTGCTTTCCGGGGG
Seq C2 exon
AATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283_MULTIEX1-1/4=C1-2
Average complexity
S
Mappability confidence:
100%=100=100%
Protein Impact
Alternative protein isoforms (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.821 A=0.465 C2=0.878
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(15.8=100)
A:
PF0016924=PH=FE(11.2=100)
C2:
PF0016924=PH=FE(13.5=100)
Main Inclusion Isoform:
ENST00000293748fB27419
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Cow
(bosTau6)
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:
ATACACCCCCTACTGATCCGG
R:
CTCCATGCTGTACTGCTTCCC
Band lengths:
168-252
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains