HsaALTA0008402-1/2 @ hg38
Alternative 3'ss
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33444444-33446786:+
Coord C1 exon
chr6:33444444-33444617
Coord A exon
NA
Coord C2 exon
chr6:33446581-33446786
Length
0 bp
Sequences
Splice sites
5' ss Seq
AGGGTACGA
5' ss Score
7.38
3' ss Seq
TGCCCGGCGGGCAGGTGAAGGAG
3' ss Score
-9.69
Exon sequences
Seq C1 exon
CATTCTCAGACACCATCCACATTGAACCCCACAATGCCAGCCTCTGAGCGGACAGTGGCCTGGGTCTCCAACATGCCTCACCTGTCGGCTGACATCGAGAGTGCCCACATCGAGCGGGAAGAGTACAAGCTCAAGGAGTACTCAAAATCGATGGATGAGAGCCGGCTGGATAGG
Seq A exon
NA
Seq C2 exon
GAGTACGAGGAGGAGATTCACTCACTGAAAGAGCGGCTGCACATGTCCAACCGGAAGCTGGAAGAGTATGAGCGGAGGCTGCTGTCCCAGGAAGAACAAACCAGCAAAATCCTGATGCAGTATCAGGCCCGACTGGAGCAGAGTGAGAAGAGGCTAAGGCAGCAGCAGGCAGAGAAGGATTCCCAGATCAAGAGCATCATTGGCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-57-53,57-52-1/2
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
Protein isoform when splice site is used (No Ref)
No structure available
Features
Disorder rate (Iupred):
C1=0.972 A=NA C2=0.749
Domain overlap (PFAM):
C1:
PF120043=DUF3498=FE(10.3=100)
A:
NA
C2:
PF120043=DUF3498=FE(11.7=100)
Other Inclusion Isoforms:
NA
Associated events
Other assemblies
Conservation
Mouse
(mm9)
No conservation detected
Chicken
(galGal3)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACATCGAGCGGGAAGAGTACA
R:
GCCGCTCTTTCAGTGAGTGAA
Band lengths:
105-111
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains
- Pre-implantation embryo development