HsaINT1043532 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33432685-33435305:+
Coord C1 exon
chr6:33432685-33432806
Coord A exon
chr6:33432807-33435151
Coord C2 exon
chr6:33435152-33435305
Length
2345 bp
Sequences
Splice sites
5' ss Seq
CCGGTACAG
5' ss Score
5.65
3' ss Seq
CTGAACCTCCTGCCTGCCAGGGC
3' ss Score
7.06
Exon sequences
Seq C1 exon
CAAGGCTTCCTGAGCCGACGGCTAAAAAGCTCCATCAAACGAACGAAGTCACAACCCAAACTTGACCGGACCAGCAGCTTTCGCCAGATCCTGCCTCGCTTCCGAAGTGCTGACCATGACCG
Seq A exon
GTACAGGGGCTGGAGCATGTGGGATGAGATTGATGTAATGTAGGGTCTCCTGTGTGAGATGCAGAGGGAGGGGGTTATCTGTGTGCAAAGGTTGAAGGATTCAACTCAAGTTGGTTGGGGGATGTCATGGCACAGGGGACAGAACAGAAAAGAACTAGAATAGGGATCTGTGAGCAGCAGGAGAGGGGTAGGGTGGCAGAGAGAAGACAGACAGACAGGCTGGAAAGGGAATGAAGGTGAAGCCAAGGAGGGACTCCTCAGGGACTCCTCAGGCCAAGAAGGATGGGCTCTAGCCCAGGATCAAAGGAGCTGTACAGGAGGAGAGTGACCCTGGAGGAATGTTTAAGGAATGCAGGGAAGGGGTTGGTAGGTGAGTGAGCAATAGGCTGTAGGTGGAAGGGTGTCAGGGAAGGTCAGGAAATACAGGGGCAGCAGGTTGGAGTGGGGCTGGGGGTGGCTGAATGAATGGATGATGGCTAGGGCTCAAGGACCTCATCAGTGAGGGAAGAGACAGTATAGAGCATGGCAGAGAAGGGGAGGCTGGGACAGGTGTGCAGGGTGACAGAATGGGAAGCAACCCATGGACTGAGGCATGAAGAAGCAGCCAGCGGAGAAGTCCAGAAGGCACTGTCCCTGAGACCAGGCTGAAGGAGACCTCCACTGTTTGCCTTTGTTGCCTGCCATTTGGGGTTCCTCTCTGGGTTTCCCCCTCACCCAGTCACTCCCCAGGGAGAACCATGCCCTCCCTTTCCCCCATGTCTGGCCACCCCCAGGATTGGGCAGGTAGGGAGGTTGGGATAAAGTGAGTCACACCTTTCCCTGCCCCCCTCCCATGTTGCCAGAGCTGGATTTGGGGCCGGCAGGGGGTGAGGGCATGGTATTCCTGGCCGCGGGGGCGGGGGGGGGGGTCCGGGGGCCGGGGGAGCGTCGCGCTGACGGCAGCCAGAGCCTGCGATGACGGGGCTGCTATAAATAACTTCTTGGAGGCTCCCACACCCAAGCTCCCCTCCCGCTTTCCCACTGCTCTCTACTCTTCATCCCCTGCCCATCTCCATACCGCTTTTGTATTGCTATCCTACCCCTCATTATTCCATGCCCCTAGCCCCCTTTATCTTCTGCCCTCCTGCAGTGATTTTTTTGCATTCCATCCCCTCTTAGCCCTCACCTCGGTTCTCCCGGCCATCTCTCCAGTTGGCCTTCCTCCTCTTCTCCTGTCCTCTGTCTTGCTGCACATACCTTTGTCTCCCCCTTTCTTCTTCTTGCCCTACCTCCTCTTCTTCCCTAGTCCGTGTATTCTGTCTTTTATCCTCTTTGAGCTCTTTTCTGCCCACAGCTTTCTCCTATTTCTTATGCTTTTCCCTCACTCTTTCCCCTGCTTCTGCTAAAACTTGTCCTCTTATGCTGTGTTCATTCATTCTTTGAATCATTAAATGTTTATCAGGCACTAGCCGTGTGCCAGGCCCAGGCTAGACATATCTCTTCTCTGTGCCTTCACTTCTTTACTTCCACTTTTTCCTTTATACTGAGGCTCTGGTTTCTGGGGTTACCTGGAGGTACTACCTAGAAGTGCCCCAGGCCCACTTTGTTCTCTCCTTTTTTTTTTTTCTTTTCTGCCATGGTCCATTTCTGGGTTGAGATATTTCTAGATGTCCCCAGTCCTCGCAATCCCTTAGGTGTGAGATGGTGGGAGTTTCTTTTTTTTCCTTTTTTTTTTTTTAAATAGAAATAGGGTCTCACTGTGTTGCCCAGACTGGTCTTGAACTCCTGGGCTCAAGTGACCCTCCCACCTCGGCCTTTGAAATGTTGGGATTACAGGTGTGAGCCACCAGGCCCAGGTGGAGCAGGGGAGTTCCTTAAAGGATTCTGATTTTTCTCACATCCCTCACGTCCTTCCTGATAGGCAGGGTTTCTTTCTGTGTCTGTTTGGGAAGGGTGTTCAGGGGGCCTTCTCTCCAAGTCTCCATCCTGGAACAGACTGATGATGCAGGGTACCTATGTGTCTAAGAAGAGTAGGGGGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAATCACTTGAGGTCAGGAGTTTGAGACCAGCCTGACCAACAGGGTGAAACCCCGTCTCAGCTAAAAATACAAAAAAAAAAAAGAAAAAAAAATTAGCTGGGTGTGCTGAGGCAGGAGAGACGCTTGAGCCCAGGAGGCAGAAGTTGCAGCAAGCCGAGATCACACCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAGGAAGAGTGGGAAGCCCTGATCCCTTCCTCTCCTGAACCTCCTGCCTGCCAG
Seq C2 exon
GGCCCGGCTGATGCAAAGCTTTAAGGAGTCACACTCTCATGAGTCCTTGCTGAGTCCTAGCAGTGCAGCTGAGGCATTGGAGCTCAACTTGGATGAAGATTCCATTATCAAGCCAGTGCACAGCTCCATCCTGGGCCAGGAGTTCTGTTTTGAG
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:5
Average complexity
IR
Mappability confidence:
NA
Protein Impact
ORF disruption upon sequence inclusion
No structure available
Features
Disorder rate (Iupred):
C1=0.451 A=NA C2=0.227
Domain overlap (PFAM):
C1:
PF0016924=PH=PU(24.8=65.9)
A:
NA
C2:
PF0016924=PH=FE(23.0=100)
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:
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