HsaALTA1053910-3/4 @ hg38
Alternative 3'ss
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33438775-33440965:+
Coord C1 exon
chr6:33438775-33438919
Coord A exon
chr6:33440553-33440728
Coord C2 exon
chr6:33440729-33440965
Length
176 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
TGGCCCCCTTCTTCAAGCAGCCT
3' ss Score
5.28
Exon sequences
Seq C1 exon
GAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTG
Seq A exon
CCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAG
Seq C2 exon
CGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283-43-39,43-38,43-37,43-36-3/4
Average complexity
Alt3
Mappability confidence:
NA
Protein Impact
ORF disruption when splice site is used (sequence inclusion)
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.017
Domain overlap (PFAM):
C1:
PF0061614=RasGAP=FE(27.9=100)
A:
NA
C2:
PF0061614=RasGAP=PD(44.2=95.0)
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
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:
CCTGTGCAAGGTGGTCAACTC
R:
GGATGACCTTGGCAATGAGGG
Band lengths:
242-418
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains