HsaINT1043520 @ hg38
Intron Retention
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
chr6:33438920-33440728
Coord C2 exon
chr6:33440729-33440965
Length
1809 bp
Sequences
Splice sites
5' ss Seq
CTGGTGAGA
5' ss Score
7.54
3' ss Seq
TCCCCGACCCTTCCCCCCAGCGT
3' ss Score
8.98
Exon sequences
Seq C1 exon
GAGAATTCATCCGTGCTCTGTATGAATCTGAGGAAAACTGCGAGGTAGACCCTATCAAGTGCACAGCATCCAGTTTGGCAGAGCACCAGGCCAACCTGCGAATGTGCTGTGAGTTGGCCCTGTGCAAGGTGGTCAACTCCCACTG
Seq A exon
GTGAGACTGGGAACGCTGGGCTGGGGGGCCAGGGTCGGGGGAATTATGTGTTCATCTGTTCATCTATCTGTCCATCCTCAAAGAGGACTGAGCACCATTTATGGGCAAAGCATTGTTCTAGGCGCTATAGAGCAAACAGGTGAAAGAGGCCTGGTCCCTGCCCTCAGAGGGCCTCCACCAGAATGGGGACAAATTAGAAGAAAAAAAAAAAAAGCCACAGAGCCATAATGGTGTGTAAGTGCTGAGTAAGGGTCCCCCCAACCTCTGTGTGACATAAGGTCAGAGAGAAGGCAGAGCTTTGAGATAAGTGGGGAAGAGGTGCCCCCTTGGGTAGGCTTTGAAGACTGGTTTAGGTTCTGATATATGGACATAGTTGGCAAGAAAGACATTTCAGAAGAAGGCTGTGAGAAAGGCACATGTGTGATGGTGAAAAGGCCCAGGAGTTTTCAGGGGACATTAAAGTAGGTTAGTAGCAATTACATCAGGTTTAGTGGAGCATGTGCCTCATAATGGGGAGTGGCGGGAGAGATGTCTGGGCAGGAAGATTAGCTTTAGAAACTGGAAGGCCTCAAGGAGTCTGAGGTCATTGGTAGGCCTTGGGATGCCATTAAAGGTGTCAGAAATATTGTGATTTAGAAGATTAATCCATAGGCTGGGCACGGTGGCTCACACCTGTAATACCAGCACTTTGGGAGGCTGAGGCGGGCAGACCACCTGAGGTCAGGAGTTTGAGACCAGGCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCACATGCCTGTAATCCCAGCTATTCGGGAGGCTAAGGCAGGAGAATCACTTGAATCTGGGAGGTGGAGGTTGTAGTGAGCCGAGATCACACGATTGCACTCTAGCCTGGGCAACAAGAGTGAAACTCCATCTCAAAAAAAAAAAATTAATCCATAAGTAGAGTGTATGTAGTAGAGTAGAGGGATGTATGTTGGGGGATGACTGGAATAGAGCCAGCTGGGGGCTCGGAGGCATGAAAGTCAGATCCTGAATCAGAACAGTGACAGAAGTTAGGAAGGAGCTACTGGAAGGACCCTCTCGGGAAAGGATCAGTAGGAATTGTCAGCTTATTGGAAAGGAGGGAGCATGTCTGTGGGGAGTCACGGATGACTCAAGAGGCCATGAGGCTGGTGGTTGGGAGACCGGTGGCCTCATTGACAACCAGGAAAGTCAGGAGGAGGAGCCAGTTGGAGGTGTGGGGGCGATGGTGAGCTCTGCTTTACACCAGCCGAGTTTAAGGTGTCAGTGGGACATTGAAGTGGAACTGGGAGGTGCGGGGAGTGAGCTCTGAGCCATTCCAGGGACTGGGGATCATGCCTGGGGCACCTCCATCCCCATTTCCCTGGAATCCAGAAGAGTTGGGGGGTCCGAGCTCCCTGTACCTCAAGTGACCCTCCATCTCTCTCCCATCTCTGTCTCTCCCTGGTGTCTGTTTTTCTTCTCCTCCTCTCCTTGTCTCTCTCCCACACCCCTCCATCTCTCTCCCACGTGTCTCTCCCCTCACCTTCTCTCCCCCTCCATTTCTCTCTCCCTAATCTGTCTGTTCCCTCTGCCATGGCCCCCTTCTTCAAGCAGCCTCCCATCTTGCTCCTGCGGTCCCTCCTTCCCTGTCTCTCTCACCCCTGTTTCCACACCCTCACCTCCTACCACCCCCCTCAGCATGTTCCCTGGAAGCTGAGGGTCTCTGGGGCTCAGTCCCGGTCTCTCTCTTTCTCTCTCTCTCTCTCTGTCTCCCCGACCCTTCCCCCCAG
Seq C2 exon
CGTGTTCCCGAGGGAGCTGAAGGAGGTGTTTGCTTCGTGGCGGCTGCGCTGCGCAGAGCGAGGCCGGGAGGACATCGCAGACAGGCTTATCAGCGCCTCACTCTTCCTGCGCTTCCTCTGCCCAGCGATTATGTCGCCCAGTCTCTTTGGGCTTATGCAGGAGTACCCAGATGAGCAGACCTCACGAACCCTCACCCTCATTGCCAAGGTCATCCAGAACCTGGCCAACTTTTCCAA
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:10
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.000 A=NA C2=0.006
Domain overlap (PFAM):
C1:
PF0061614=RasGAP=FE(27.9=100)
A:
NA
C2:
PF0061614=RasGAP=PD(44.2=95.0)
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:
GGAAAACTGCGAGGTAGACCC
R:
TGGAAAAGTTGGCCAGGTTCT
Band lengths:
350-2159
Functional annotations
There are 0 annotated functions for this event
GENOMIC CONTEXT[edit]
INCLUSION PATTERN[edit]
SPECIAL DATASETS
- Autistic and control brains