HsaINT1043519 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33420070-33423598:+
Coord C1 exon
chr6:33420070-33420331
Coord A exon
chr6:33420332-33423476
Coord C2 exon
chr6:33423477-33423598
Length
3145 bp
Sequences
Splice sites
5' ss Seq
GAGGTACGT
5' ss Score
10.2
3' ss Seq
TGTGTGTCTCTGTCCTCCAGATG
3' ss Score
12.27
Exon sequences
Seq C1 exon
TCTCGGCTGCCGCTGCTGCCGTTGGCTCTTATTCTCCTCCTCCTCCTCCTCTCTCCTCCTCTCTGCTTCTCTCTGCTCCTCTCTCCTCCTCTCTCCTCCTCCTCCTCCTCCACCTCCTCCTCCTTCTCCCCCTCTTTCTCCCCCTCTTTCTCTCTTCTTTCTCCCCCGTCCCCCCGCCCCCTCCCCCCAGGCCTGATGAGCAGGTCTCGAGCCTCCATCCATCGGGGGAGCATCCCCGCGATGTCCTATGCCCCCTTCAGAG
Seq A exon
GTACGTGGTGGGGGGAGGGGGAGGGCCATATGGGGGGCAACAGGGGGAGGGGCAGGGGGCGGGGGAGAGTCGGGGCCGAGGGAAGGGAGCGGCTGAAATGGAGGGAGAGGGGAGGACCGGGAAGGCAGGGGTGGGAGCAACCGGGAAGGAGGGATTGGAGGCCAGAGGGATAGGGGTAGATAAGGGATGGAGGGGCCAGGAAATGGGCCTTGAAAGGGGGCTGAAGGGAAAATGATGAAGGGGAAAGAAAGCGCCAGAAAGGGGTGGGAAGGTAGAAGGATTGGGTTGGGGAAAAAGCTGCAGAAATAATTTGGGGGTGGGAGCTGAGTGATGAGGAAAACATCAAGGAAATAGAGGGACAGAGTCTTGGGAGAGGGGCTAGGAAGGAGAAATGAAAACATAGGGGTGAAAAGAGAAGCCAAGAAGATGTGGGGGGATAATTTGGTGGGGGACTCAGAGTATGGTAAGGGGCGGAAAAAGAGAGGAGGATGGAGGGAGAGAAGGGGCCAGATGGAGAGAGAGGGAGGCAGTGGGGGGTGGGGGGATGGAGGGTCCAGATGGAGGGAAGAGAGAAGAGAGAGGGAACGGTGGGGGAGGGGAGACCAGGGCAGGGGGAGGGCCAAATTATGTGTGCTTGGGGGGGTGGCAGTACAAGTAAGATGAAATGATGGGAGTAGGGGACAGGTTAGGATCCTGCCCCAGACTCTGACCCTCTTAAAGGCTCTTGACCAGTAAAATGTAACCTCTGGGGTCTTAATGCTGTCTTCACTTCATCACTTTTACCCCCTTCCCCCACCCCTCCAATCCTTATTTCCATTCCCCCTCCCTCCTCTGCTGTCCATCACCTATATCTTTCCCCCCATATGGTGTCCGTTCCTTATATGAGTCCCCCTTCTGTCCTTCCCCTATATCAGTCCCCTCTCTGGTGTTCATTGCCTCTCTCTTATCTCTTTTCTATGTGGTCGCTCCCTTATATCTCTATCACTTCTTTACTAGTCCGTCTTGACCCCTTCTCATAGCCTCCGCATTAGGTCTGCCTCCTTTGCTCTGACACATGTCCAGTCGAGCCCTTCAGGTGTATTCCCTTGCCCCTGGGCATTTACCATCATTTCTGCCTCCTTTTCTATCTACTCCTATTATTTGTCTCCCAGACCATTCCTTGTCACCACAAGTCTGTGCCTACCCACTTTCCCTTAATACCTCAACTCTTATTATCATTTCTCTTTTCTTGTCTCCTCTACTTATTGGGGTGTTGGAGATTTGGGGTACAAAGACACAGGTTTTGATGATTAGAACAAGGGATCCCCATCTCAGCCCTTGAGGGATTTCTCATCCTAGTAAAAATTTCCCGTTTCTCAGCCATGTTGCTCTGCCTCTTGCATCTGCCTCCCAGAATCATTCTTCACCAAGTCCAGACAGTATGTGTGTGTGTGTTTCTAGAGTTGTTCCTAAGTTCCCTGCTGCCAGGAGAAAGATGCCCTCTGAAGTCTAACCCGCCTCCCTTGGCTGCAGCCTGAACCAGCCCTTTCCCCAAATGCTTATGTGTATCAACAGATTTCTCCTCTGGGTATACCAAGTGTCTAAGTGCGGTGGGCATGTTGCCTGCAATGTCTGTAGTTTCAGAGGCTAGGTATTGGTGATCTCTGTATCTAGAGAACATTAGTTAGTCTCTGAGATGGGTTGAGATAGAGTTTCAAAGTATGTGGTTTCTAAATGGTGGACATTCTGAGGGTTCATCGCTCACTGTGATCTGGAGGTTGGGTAAATTTGAGAGACATATTTATAGACAGAAAAGGGCTGAATTTGCAAAACTCTGCTACTCAGTGCATTCTGTTGGAATGAAGCTCAAAGACCAGTTCTCCTGCAGTATACTCATGGTTATCCCATAAAGGTGACAGAGTTTGATCTTTTTTCCATCTAAAATCTGATACCTTAAGCCTAATTTCTAGCTCTTTGCTGTCGCCAATGTGACATCTCTCTTACTTCAATAGGGCCTGTGTGGCATTGGGGTTTAAAGGAGAGGCAGTTTGCAGGGAGAGCGGCATGGCAAGAACAACAGAGCTGGGGAAGGAGGACCCTGGTCTCATCTCAGCCATAGGCGACACTTGGTCTACTGTTCTCTCTTCTCAAAGTTTTGTTCCCATCTCCAGCTCTTGTCTTTGGAGGCCCCTCTGTGTCACCAGGCCTGGATATTCCATTCTTTCCCCCTGACATCTTTCTTCCTCAAGCTCCTCACTGTGCCTTGAGAAGGCTCCTGACCTATGGAGTGGCTTCCATCCTGTCCACTGAGACTAGGTGGGGTGAGGTGGTGGGGGCAGTGTTGAATCTCTGGGCACTGAATGGGAGAAGAGATAAATTTGGTCTCTACTTGTCCAAACAAGGGCATATTTCCCACCTTCTGCCCTGGGGCCTCCACAGCCAGATGCCGACAAAAGCCATCTTCTCCTTACCACCAGAAGAACCAGAACTTTCCCTAAAGGATGAGCAGGGTTGAACTAGGGGAGGAGGGCACAGAGGAGGGAAGAGTTGGGAGGGGAGGCCCTCTCATGTCTCTGACTGTGAACAGGTAAGCTCCCCGACTTCTTCTTTTCTAGATATTTAGCCCTCAGAATCTCATGATCCCAATGTTCCTACACACACACCCCATCCTTCTTTCCCACAGCCATGTAGCTTTCCTCATACTCTTTTATAGAGGGGTGGTGCCACCTTCCAAGTCCTTGTCTTCTGCAGCTATTTGGATGCCTTCCTCTACCCAGATATCTGACACCAACTTCTCTGTTTTTCTCCTGCCAATTTTGCGGCACCTCTACCTTATTTTCCTGAAGTAGATGGAGAGCTCCTTCATCTTTCTCTGCCCCCAAACGTGTACCTTCTCTGTCATATAATTCCCATCCCTGAACCTCTGCATTTCTTCCCCCAAGTCTCCAGAGCCTTCTGTGATGTGATCCTCTCCTCTTTTCCCCTTTGTATAAATGCTTGTCTTGTGTTCCTTTAGAGTTGCCAGGTGTCTCACTTTCAACTGTGATCTCCTGAAGGCCGGTAGGGTCCCCTTCTCACTTTGTGGACTCTCTTCTTGCCATTTTAGGCCTCTGCTTCCAAATGCATAGAGCCTCCCTTACTGTTTCTGTGTGTCTCTGTCCTCCAG
Seq C2 exon
ATGTACGGGGACCCTCTATGCACCGAACCCAATACGTTCATTCCCCGTATGATCGTCCTGGTTGGAACCCTCGGTTCTGCATCATCTCGGGGAACCAGCTGCTCATGCTGGATGAGGATGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:1
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion (1st CDS intron)
No structure available
Features
Disorder rate (Iupred):
C1=0.547 A=NA C2=0.304
Domain overlap (PFAM):
C1:
NO
A:
NA
C2:
PF0016924=PH=PU(14.9=80.5)
Main Inclusion Isoform:
NA
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
Fruitfly
(dm6)
No conservation detected
Primers PCR
Suggestions for RT-PCR validation
F:
No suggested primer sequences
R:
No suggested primer sequences
Band lengths:
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains