HsaINT1043527 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33446575-33447933:+
Coord C1 exon
chr6:33446575-33446786
Coord A exon
chr6:33446787-33447842
Coord C2 exon
chr6:33447843-33447933
Length
1056 bp
Sequences
Splice sites
5' ss Seq
CAGGTGAGG
5' ss Score
10.07
3' ss Seq
ACTGAAGCCCGTCCCTTCAGGCT
3' ss Score
4.16
Exon sequences
Seq C1 exon
GTGAAGGAGTACGAGGAGGAGATTCACTCACTGAAAGAGCGGCTGCACATGTCCAACCGGAAGCTGGAAGAGTATGAGCGGAGGCTGCTGTCCCAGGAAGAACAAACCAGCAAAATCCTGATGCAGTATCAGGCCCGACTGGAGCAGAGTGAGAAGAGGCTAAGGCAGCAGCAGGCAGAGAAGGATTCCCAGATCAAGAGCATCATTGGCAG
Seq A exon
GTGAGGGGCGGCCTGGGGAGGGGGTTGTGAGGGAGAGCCTGAGGCTGGAGAGAGCAAGTGGGTGAGCTACTCCGCTGACTCCCATCCCCAAACTCAGGAGCCCACCAGGAGAGCCCACCACTCTCCTCCCCAGGAAGCCACCCACTCACTCATCACCAGATGGAGAGAAACCCCAACCTGCTTAGTGCATTAAATATCTCTTTACCAAACCCTGACCTCTCTTCTGATAGAGTAGCTTCGGAAGCCCTTGGAAAATGTACCTGTTCCTGTCCAACCATCACTGCATTTGCATTTACCCTAGGCCAGAGCTCCCCACTAGTTATTCTCAACTTAACCTGTGATGTTCACTCCAAACCTAAGCAGGGCTCCCTAGCCAGAGTAGGCCCTGCCCTTCCTGGGTGGACCCTCCCTCTCTAGCCTTGGAAAGGTGTTCTGTTAGAAAGGGTCTTTTAGCCTGTGTATGTTTTCAGCTGCTCCAGCAAGTCCTGGGCTCCAAAGAGGGTATCCTCAGCAAAGAGGTCAATTATCTTCAGAGTGGTGGGGTCGGGGTGGGGGGGACCCTGGGCGCACTCCAACCAGAGCCACCTCCATTTTGATCCATTCTAAATGTATTTTATGTAAGATTTAATTAGAAGAAAAGGGCTTCTTGAAATATTTTTTGAAAACCACTGCTCTAATTGATATCCTTTATGATAAATCACCTCGAGGATCTTCACAGTGAGGTGACATGGGGGATGCAGAAGCCAGGTCCTCAGCCATGGAAGGTCTGGGGAAGGGGCACTGCTGTCCTGATTGGGACGATGGAGGCCTGGAGGTGTCTGGATGGTAGAAGTCTTTGAGGCACAGAAAGCTGCCTTAGCAGGGAGGTGTAAGGGTTCCTGGGAGGAAGGTGGAGAGCATGATCCTGAGGAACAGGGAGTCTTGCATCACGGCAATGGAGGGACTCTGATTCTAAGGGATAAGGATGCCTGAGGTTTTTCCAGAGAGCTATGGGGTTCCATGGGCAGGCTCTGAGCCTGTGCCCGCCACTAACCCCACTGAAGCCCGTCCCTTCAG
Seq C2 exon
GCTGATGCTGGTGGAGGAGGAGCTGCGCCGGGACCACCCCGCCATGGCTGAGCCGCTGCCAGAACCCAAGAAGAGGCTGCTCGACGCTCAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:17
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.744 A=NA C2=0.589
Domain overlap (PFAM):
C1:
PF120043=DUF3498=FE(12.1=100)
A:
NA
C2:
PF120043=DUF3498=FE(5.2=100)
Main Inclusion Isoform:
NA
Other Inclusion Isoforms:
NA
Associated events
Conservation
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
GTGAAGGAGTACGAGGAGGAGA
R:
GAGCAGCCTCTTCTTGGGTTC
Band lengths:
294-1350
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains