HsaINT1043531 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33432161-33432806:+
Coord C1 exon
chr6:33432161-33432252
Coord A exon
chr6:33432253-33432684
Coord C2 exon
chr6:33432685-33432806
Length
432 bp
Sequences
Splice sites
5' ss Seq
TCGGTGAGT
5' ss Score
11.11
3' ss Seq
CATCCCCATTTCCCCCCCAGCAA
3' ss Score
8.34
Exon sequences
Seq C1 exon
AATACCACTTGGGTCGCTCGAGGAGGAAGAGTGTCCCAGGGGGGAAGCAGTACAGCATGGAGGGTGCCCCTGCTGCGCCCTTCCGGCCCTCG
Seq A exon
GTGAGTGGTGCCTACCAGATGTGGCTCAGTTGGGCCCCCTCCCCTCCAGCCCCAACTGGGGCCCTAGGAGTCTGAGAAAGAGGGCAGGAGGGGGAGAGAGGGAGTGAGAGTGAGAAAAAGAGTGTGTGTCTGTGTGTGTCTCCCCACCTCTTTGGTTTCCCCCTTCTTGGCTCTGCCCCCCTGCTTCTGAGACCAGCCCTCCCACCTTCTCCAAGCTGTGTGTGTGTGTATATGTGTGTGTGTGTGTGCTTGCACTGTACCCGTGGGAGCAAGGAAGACAAACTGGTATTAGGGTTCCTATCCCCCTTTCCTCGCCTCTGGAGACTTCCCTTTTCCCCATCCCACTTTCATCCAGGGGCTCTCTACCAGCTGAGGGATGAGTAGGTAGAACTGACCCTGCCCCAACCCACCCCATCCCCATTTCCCCCCCAG
Seq C2 exon
CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:4
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.878 A=NA C2=0.451
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(13.5=100)
A:
NA
C2:
PF0016924=PH=PU(24.8=65.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Mouse
(mm9)
No conservation detected
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
ACTTGGGTCGCTCGAGGAG
R:
GTCATGGTCAGCACTTCGGAA
Band lengths:
206-638
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains