HsaINT1043533 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33435152-33435613:+
Coord C1 exon
chr6:33435152-33435305
Coord A exon
chr6:33435306-33435514
Coord C2 exon
chr6:33435515-33435613
Length
209 bp
Sequences
Splice sites
5' ss Seq
GAGGTACTG
5' ss Score
7.67
3' ss Seq
AACTCCACACTCCTTTCTAGGTA
3' ss Score
6.76
Exon sequences
Seq C1 exon
GGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAG
Seq A exon
GTACTGGGTCTGGTGGGCTGGGGAGGGCCAAAGGACAGGGGTGATGGAAGGTGGGGGGCAGAGAGGTCTAGAGAAAGTGGCACAGGTGGGGACATCAAGGAAACAGAAACTTCTGGGACTGGAGGAAAGGGTAGGCCAGGGAGGAAGAGAAGGTAGCAGAGTCTCCTCCCCTCTGTAGCCCTTTCCCTCAACTCCACACTCCTTTCTAG
Seq C2 exon
GTAACAACTTCATCAGGAACAAAATGCTTTGCCTGTCGGTCTGCGGCCGAAAGAGACAAATGGATTGAGAATCTGCAGCGGGCAGTAAAGCCCAACAAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:6
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.227 A=NA C2=0.121
Domain overlap (PFAM):
C1:
PF0016924=PH=FE(23.0=100)
A:
NA
C2:
PF0016924=PH=PD(13.1=87.9)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Other Skipping Isoforms:
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
CCCGGCTGATGCAAAGCTTTA
R:
GGCTTTACTGCCCGCTGC
Band lengths:
244-453
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains