HsaINT1043528 @ hg38
Intron Retention
Gene
ENSG00000197283 | SYNGAP1
Description
synaptic Ras GTPase activating protein 1 [Source:HGNC Symbol;Acc:HGNC:11497]
Coordinates
chr6:33447843-33457541:+
Coord C1 exon
chr6:33447843-33447933
Coord A exon
chr6:33447934-33451759
Coord C2 exon
chr6:33451760-33457541
Length
3826 bp
Sequences
Splice sites
5' ss Seq
CAGGTGGAA
5' ss Score
1.62
3' ss Seq
TCCTTTTTGGTGTCTTGCAGGAG
3' ss Score
11.57
Exon sequences
Seq C1 exon
GCTGATGCTGGTGGAGGAGGAGCTGCGCCGGGACCACCCCGCCATGGCTGAGCCGCTGCCAGAACCCAAGAAGAGGCTGCTCGACGCTCAG
Seq A exon
GTGGAAATTACAATGTCATTTATCTTCTCCGTGTCCCATCCCCATCCATCCCACTGTCTTTCGTGCACTCACTACACCAGCCACCTAGCCCCATCACCATCTGTCTCTCATAGTCTGCTGTTTGTCCACTGGCTGCTCCTGGCAGCCCCCTAGTGACCCCATCTTCATCCCATCGTCTGTGCCTTTGTCACTCCTGGCAGCGTCAGCCCAACTCCTGTGCCTTCCCATCCAGTCTTCCCACTCCTCTCTGCATCTCAGGACCTTCTCTACCAGAACCTTGGTCTTTCTGCCCCTAGACCCCACCTAGTTCCAAGAACCCCTGCCCCTTCTTTGCTCACTCCTATTCAAGCCACGTTGTTCAGCTTCCTCTGCGCTCTTGGGCCAGAGGGCTAGAAGCTGCCGTTTTCTGGAATAGAGCACAGGGCAGTATGATCTGTAGTTTCTCCAGGCCCTGGCCGGTACCCTGAAAACTTGGGGACCCATCACCTCTGTTCTCTTGGCTCCCTAATTTTCCTGTCTCCTTGGCAGCTCCTGCATAGCTTCCTCTTCCTGACTCTTCAGATCTTGAAGGCCTTCCATCCTGTAACCTCCCTTTGCCCTCAGTATTTAAGTCCAGCCTCCCTCTGGCCTCCCTCCCACTCTGGCCCTCAGACCTTCCCAGCTGCCTGCTGCCCAGCCTCTCTTCTCACAAGCCAGCTTCTAGGACCTCCCTTCTGCACCCTTACCCCTTGCTTTCCCAAAATTCTGCTCATTTTCCTACCCATACTCCTCTTTGCTCTGACTGCTAGGCTCCCCCCGCCTGCCATCCCCCCACCAAGGCTCCTGACCCCATGACCCCACTCTCTCCCACTGCAGCTCCTCATCAGGTAATTCTCCTGGTTCCGCTTTGGCCACGGGCGGAGGACACAGGGGGAGGTGACTCCGGACCACTGCAGGTTGGTCGTGAAGCCCACTCCCTCCAACACCTCCGGAGCCTCTCCCCTCTCACTGCTGCCCTCCACACCCAGAGAACCTCCACAGACTCCAGCCCTCCGACACCTGCACAGATCCATCTCCCAAGACACCACCCAAAGAGAGCATTTGCTGCTGCTTCCCAGAACTGTCCAACAATACCTTAGCAACACCAAGAGTTGGGCCCTAGATGGGCCCAGCACATTCACAGGTCACACCCACTTCCCTGCAAAACCCACCCCCTCCCAGCCTCCTCCTGACTCTAAGCCCTCCTCTTCCTCTACCTCTCCAGTGTATGTCTGTCACCCCCCATTTCACCAGAGCGTCCTTAGGGGCTGGGGGTGGGTTTGTTAATGGGGTGGAGGCAATGATGGGTTGGAGGATCTTGGCTATAGGGGCTGTGCTGACTGCAGCAGGTAGGTTGGGTTTCCCTCTTCCTTCCCTAATCTTGGTTCTCTACCCTCCTTTCCACTCCTCACCTGATTCTCTCTCTTCCTCCTCCTTATATCTGTGAGGCAGAAGGCATCTGAAGCTCATATTAGCCCCCATTGGGTGGGAATTAGGAGTGGGTAGTTAACTCAGGGAGACTTGAGATACCCTGGAAAAAATGCTATTGAGATGTCCTGACATTAGGCAGGGTGGATGGAACAAGAAGGAGCAAGAAAGGAACCTCAGGCAGATGTTAGGACATGGACTTGATCATGTGGCCTGGGAGTTTAGAAATGGGGAGAGACATCCTCCTAGATCAGATCGTGGGCTCAGTAGGCATGTTGATTCCCAGGGAGAGGTGCCAGGAACAGCATGGTAAAGAATGTACTCTTCACAGCTCACATCCCCAGGTTGCTGATGCCACTCACTCCCCCTCTCCTGCCATCGAGTGGCCTTGCCGGACACATCACCCTACCTAAAAAGCCAGTAAATGAGAACCTGTCAGCTATAGCCATCATTTCTGAGATGCGATTTTCTTTGGGATTGAGCTGCAGTGGGCAGTGGCTCCTTACACTGTAATTTTAATTCTCTGCCTGCCCAGCCTCTCTGTCAAAGTAGCTGGTGATCTATAAAGATGCTAAAAGGCACCAGGGGACTTTGCCATTTAAAGGACTCCTGCAGTGAATTCTTTTGTAAAATGAATAATGGCACCCTAATTTATCCACTTTCTAAATTTGGGTCCATGGGGGTGTCCAGGGCATGCTTATGTGCTGTCACCAGCAGACAAACAGAGGGAATGGAATCTGGGGGTTCCTTCCCTGCTCTCCCGCCATACTCAGGATACCCTACCATAAGTGATTTCCTCTCACTGACTTGCAGAAAATGTGTGAGATACCCAGCAAGCTAAGAAGGCAGTTTTGCTGGGTATCTCATACCCAAGGCTGGGGTTTGGGTGATCTGAGAGGTTAGCTCCTTGATCCTAGGATGGAAGGGAGAGCTTATATAGAAGCTTTTACTTGGAAGGTTTTGTATCCTAAGGTCAGACATAGCTATATTACCAAGCCTAAATGCCATGTGGCCCAGGAAATAATTTGGACATTTGTTCTAAACCACTTGTGGTAGGTATTGGTCTCTCTGCAACTCAGCCATTAATTAGAAATTAGTTTTGAGCCTGAATTTTAAAAAGCCAAGTGTTGCCCCCAGCCCACACACACACACACGGACATGTACAGTACAAACCCCAGATAATTACAACAGCCAAAGAGAGAAGGAAGTGAATTTCCCAACCAGAAGCGTAGGGAAATTCAGATGGCTTTCTTTTCTCCCAGCAGAGGAACAGAAGGCGGAGCTAAGGGCAGGAACCAGGAGTTGGTCAAGGAGCTATAGGAGGTGATGAGAGTAGAACCAGGGGTAGGAGCTGGTCTGGTACCCCTCACCCTCTAATTGGGAGCCCAGGGAGAAGGACTGAAAAGAAGATGGGAGTGGAAAAGAATAAAGCCAGTTTCTGCTTCCCAGGGATGCAGAGATTGGGGCATGCTGTGTCTGCAGAAGCTCCTAGTCATTTCCGCCATAATTGTGAGAGAGAGGGGCAGCCCTCCCACAAGATTTTTCCCTTCCCATATCACTTCCCTGAATCCCCTTCCTTTCCCCCCAGTACAGTTAAACCTCTCTCTAATTTGGAATGTTATATTTGAGAAGATGGCCACTGTGAATAAGTGACAAACGGAATGACAGTGTCTATTTAATGAAATGCATGTCTTCAAAATATATACAGAACTCGATGAACAAGGCTTTTTCCACTCCTCAGGGAGCATGCATTAATGAATAGATAGGATTCAAAAGTCTGTTTTCTGGTATGGGTTAAATATCCCCTCCTACAGACATATTTCCACCACTAATTTGCTTAGTACACCTTTTCTTCACAGATAAAGGAAAATGCAAGCTCAGTTTTTCTTCAGATTATGAAGAAATTCCAAATCCACAGGGGTTTGGATTAATGAGGTTTTGCTGTACTGCCTCCCCTTATTCCTCAACATGAAGTTCCCACCTCGGATTGGGGATGGGTGGGAGGGGGTTTCAAGAGGAGGAGGGTGGGATGGGCAAGGAATATACACAGGTGAAGCCAGAGAAGGGTTAGGTTGGGGGTGCGGTGGGAACTTGCTGTTTTGATCTGGTTTCCTGGTGTGACACTCTGGGTTAAAGGCTTGAAGGCCCCTGTTAGGAGTCTAGGGGTGAGATTCTCTTCTCTCTGATCCCAGAGGACGTTAACTTCTACTGCAGGTGAGAAACAAAATAGGAGGATGGTGGGGACTGTCCTGGGAGGAGGGGGTGGTCCATGGCTTGTGGTGTGGGCTGGCTATAGGGGAGGCCACTGCTAGGGGACTGGCATCCAGGCCCCCTTGAAGCGTCTCAATAAGTCCGCGCTCTCCTTTTTGGTGTCTTGCAG
Seq C2 exon
GAGAGGCAGCTTCCCCCCTTGGGTCCAACAAACCCGCGTGTGACGCTGGCCCCACCGTGGAATGGCCTGGCCCCCCCAGCCCCACCACCCCCACCCCGGCTGCAGATTACGGAGAACGGCGAGTTCCGAAACACCGCAGACCACTAGCCCACCCAGCATCAGAGACCTTCTCTTCCTTTCCTGTGCACCCCACCCTGTAACAGCACCAACCACCAGGATTGGACATCACCGAGGAACAGCGGGATTGCCTCCCCGAATGCCTCCCTGGGAGGCACACTGATTGCCCACCCCCACCACTGCACCATTTCCAGGAGGGAGAGTGGGGACCCTCAGCCGCCCCCTTTTCCTTCCCATTGGGGTGCTGCCCTCTCTTTGACCCCCAGGGACCCTTGCCCCAGGACACCGCCTACCCCGTACAGACCCCTTCACTCCGGGGTGCTATCCCCATCCTCTGCCTCATCGTTCCCCTGAGCACTGGGGGACAGACCCTCACCCCCACCCTGGGGGTGTGGCACCTCCAAACTTTCAACTTCAGGGTGATTTTTTTAGCAGTAACCAGAGCTGACAATCTAACTCCCCTCCACCGCCCCATTTTGGCCTCCCCTGCCCCCCTTGTTATGGGGAGGGGACCCCGGGTGAGGGGGCCCTATTACCCCTTGATTTCTCAGGAGCGTCTGGGGGGGCTCAGCACGCACAAACTCCTTCTCCTTCTACCACTCTTAAATTTACTCCCTCCCCACCCAGAACCCAGATGGGGTGGAGGGGGCCACCGGGGCAGGGAGGGGGCGGCAAGGGGGGAATGGGAGTTGTCTCCCCTTCTCCCCACACCTGATCTGCTCTCGGCTGGTCCCAGAGCGGGGTGAGGGGGCTTATGCCCCCCCCTCCCCCAGTGTGTTGGGTGGGGTGGAATTGAGGTTAGGGTGAGGGGTCAGGGTTTAGGAGGGTGTGTATGTTGGGAGGACAGGCTAGTTGATCTGTCCTACTCTGACACACAGTCCCCTCTGCCCCTTCCTTCTCTCTTCTTGGTCTCTACTCCCAGGGGGAGGGGGGAACTTACTCTAGGAAAAGCCATGTCTCTCTCCCCCAGGGTGGGGGGACCTGTGTTGGAGGAGGGGTGTTGGGGGGCCCCCTTCCATGACTCTGTCCCCTGGGGGAGGTAGGACAGGGCTGGGCTTCCCTCTCATCCTCCCCCTCCCAATCTCCTTCCACCTCCCTCCCTCCCGCCAGCTCCACGATTTTTCGGTGTTTCTCTGTACATAGTTTTCTGGCGGGATAGGGGAGGTAGGATGGATGGGGTTTGGGGTGGGTAGGCCATGGGAGGGGAGAAGCCCCTCCTTGGCACCCCCTCTTCCCTGACTGCTGTCCCCTACCCAGCCTTGCCCCCTTCATCCTTTTGCGTTTGGTATTGAGACTCTCCTAGACTCTACTCCTCTTTCTTTTGTATGGACAGTTCCCCTTCAGTCCCATCCCCCTACACATACACCCAGCCGGGGCCAAATTTATACTTATATAAAAGTTGTAAATATGTGAAATTTTATCCCTGTGCCCTTTCCCCACCTCAGGCCCTACCCCTGGACCCTCCCCAACCTTCCTTCTCTCTTCTTTGGCTGTTGTAATTATCTGGGGTTTGTACTGTACATATCCGGGGTGTGTGTGTGTGGGCTGGGGGCAACCCTTCTGTACAGAGCTTCCTGGCCCCCTCCCCCCCCGCCCCTCTGCTTCCCTCCCCACCCACCACCTCAAGGGTAGGGAGTTGCTCTTCCTACCTGTTTTATTTTGTTTTCTCGTTCTCCCTCCCCACCCCACTCCCAGCCTTATCTATCCCCCCTCACTGTCCCCTTTTCTCCACTCCCAGCCCCATTTCCTTTTTTTCTGGAGTGTGTGGTGAAACAGAAAAAAACATGTTTAATAAACGGAGATTGTTCTTTTATCGCTGTGCCGACTTTCTTAGGCAGGGCTCTCCAGACCTGTACGGTGGTAAGATCTGCTTTCTGAAAGGAAGCTGACAGCCTGAGAGGAAAACCGTATATCCCCACCTGATGCCACACTCTCCTCATAGAATGTCACTCTCCCCTCCCAATGAGATTTTTTATATTTTAGAGCAGGAGTTTTGCACCGGCCAAACTTCTCCAATCTAACTCTCCCCTCACCACTGTGTCACTTAGTCCGAGGCCAGGAACAGCGGCGTTATCTGATAAAAGAGTTCATGTATATATCCACATTTATCTCTTTTAAAAATTACCTAGAAATAAGGTTTCTTTAATTGCTGGTTAAAATGCTCCCGTGCAGAAAACAGGAAAGAACCTGCCTGGTTCCTTAGCAAATCTGAGTTCCAGTCCCAGGTCCACTACTATTAGCTGAGTGACGCTTCCAGCCCGTTTCCCCCGCCTGGAAACTGAGGACGGCAACCCCCACCCTCGCAGGGCCGGTGGGAAGACACAAAGTGATGTGGGCAAGTGCCAGGCCCACATGGTAAGTACCCAACTAATCTCGCCCCTCTCAGGACCTACCGGGGGCGGGTGCTACACTTAATCACCGGGAAACGCAGCTTTCCGGGGCGGCTGACGGCCCACCCCCTCCGACCGGGCTGTTCTCTCCCGGGCCCTGCCTCTCGGTCCTCTGCAGCGGGGAGGACTTCAGCAGCTCCCCGGGACGCCCGTTGCGAGGACACCCTGGGCCTGTGCCCTCCTACTAGCACCGCCCTCCTCGTCTGCAGTAGCCAATCAACACGAGGCTTGTAGGCTGCCGTTCCTCGATTGGCTACGGCTCTAGCTCCGCCCGCCGCACTTGGCGACGGTGTCCGGCGGGGAGGCGGCGGCTTCCGGTCTGGGACGGAGCTGTAGCGGCACTGTAACTGCGAGGGCAGCGCCGCGTGTGTAACGGCGGGGGCGTGTCGGCGGGAAGGACAATCGGGCCGGGACTCGCGGTGTCCGGGTGACCGCGGCTTCCCGGGAGCAGACCTCTGTGGGCACTGTGAGGCGGAACGGAGCGGCGGGGCAGGAGCTGTTCTGGGCAGGTGAAGGCAGGCTGGTGGCTGAAGGACCTCCTTCTTATCTTCCACAGGGGCTGGAAGTTAAAACCCCTGTTGGTGTTTAGTGGTGGTGGTTGTTGTTGTTGTTTGTTTTTGCTTTCTTGGTGTGCGGGACTGATTTGCAGAAACCGCCACTGACTTAAAAGTTTCCAGTTATTGCTCGTGGGGAGGGGGTTGTTTGAGAAGATGTGGCTCCCTTTATCCAGGGCTTCTGTGACCTCCATCTTTTTCCTCTGCAGCCTTCATCCCGCGTGGAGTCTACCCCCAAGCCCTTCTCCTCTTCCCAATTCTTGTCACCTTCGAGGAGGCCATGGAAACCCCAACACCTTTGCCGCCTGTACCCGCCTCCCCGACCTGCAACCCAGCCCCACGGACAATCCAGATCGAGTTCCCACAGCATAGCTCGTCTCTGCTGGAATCTCTGAACCGCCACAGGCTAGAGGGAAAGTTCTGTGATGTGTCCCTCCTGGTGCAGGGCCGGGAACTTAGGGCTCATAAAGCAGTGTTAGCTGCTGCCTCTCCTTACTTCCATGACAAGCTGCTTCTGGGGGATGCGCCTCGTCTCACTCTACCGAGTGTCATTGAAGCCGATGCCTTCGAGGGGCTGCTCCAGCTCATTTATTCAGGGCGTCTCCGCCTGCCACTGGATGCTCTTCCTGCTCATCTCCTTGTGGCCAGTGGCCTTCAAATGTGGCAGGTAGTAGATCAGTGCTCAGAAATTCTTAGAGAATTAGAAACTTCAGGTGGTGGAATTTCAGCCCGTGGAGGAAACTCCTACCATGCCCTTCTTTCCACTACATCCTCTACAGGAGGCTGGTGCATTCGCTCTTCGCCTTTCCAGACCCCAGTACAGTCCTCTGCTTCTACTGAAAGCCCTGCTTCCACTGAGAGCCCTGTGGGAGGGGAGGGAAGTGAACTGGGAGAAGTGCTGCAAATTCAGGTGGAAGAAGAAGAGGAGGAGGAGGAAGATGATGATGATGAGGACCAGGGGTCAGCCACACTCTCTCAGACTCCTCAGCCCCAGAGAGTATCAGGGGTTTTTCCCCGTCCTCATGGACCCCACCCACTGCCCATGACTGCTACTCCCCGAAAGCTTCCAGAGGGTGAGAGTGCACCACTTGAGCTTCCTGCCCCTCCTGCACTGCCCCCCAAAATCTTCTACATTAAGCAGGAACCCTTCGAGCCTAAGGAGGAGATATCAGGAAGCGGAACTCAGCCTGGAGGAGCAAAGGAGGAAACCAAAGTGTTTTCTGGAGGGGACACTGAAGGGAATGGGGAGCTAGGGTTCTTGTTGCCTTCAGGGCCAGGGCCAACATCTGGGGGAGGGGGTCCATCCTGGAAACCAGTGGATCTTCATGGGAATGAAATCCTGTCAGGGGGTGGAGGACCTGGGGGAGCAGGCCAGGCCGTGCATGGGCCTGTGAAGCTAGGGGGGACACCCCCTGCAGATGGAAAACGCTTTGGTTGCCTGTGTGGGAAGCGGTTTGCAGTGAAGCCAAAGCGTGACCGGCACATCATGCTGACCTTCAGCCTTCGGCCTTTTGGCTGTGGCATCTGCAACAAGCGCTTCAAGCTGAAGCACCATCTGACAGAGCACATGAAGACCCATGCTGGAGCCCTGCATGCCTGTCCCCACTGTGGCCGTCGGTTCCGAGTCCATGCCTGTTTTCTCCGCCACCGGGACCTATGCAAGGGCCAGGGCTGGGCCACTGCCCACTGGACTTACAAGTGACTGCTGAGGCTATACACTAGCTTCTAGAACAAGATAACCACTGCTGCTGATGGATACTTTTCCCTCACTGCCATGGCACACCAGTCATGGATCTTGTAATCATGCCAAGAGAATAGATACATTATGGACCTCTTGTTCTTAGATATGGGCCTCTCAGCCTGGCAGATGTGGAAACTCAAATTTCTCGTCCCACTCCAGGTTTTGGCTAGCCAACCCTGCAGGAAAGTGGTTTATAGGCCATTCATACTTAAGTTGATCACTTGCCCATGGTGGACATTTTTGTGGTGGTGATGTCCATTAAGGAAACCAGATTTTCAATTATTTAGTGAGAGAAGAGTTAGAGCAAAAGACAGTGGTAAATGTTTTATTCCGTCTCCATGAGGAATTGAAGGAGTTGGTCTCCACCTAGAGATACATTTGATTTACAGCTTAAGTAATTCAGAGGCTAAGCTCTAAGCTTTTTTCTCTCATTGCTGGAATGATTTAAGCAGAAGTCCTTTTGTGTACTTTTAAAATTGTATCTTTCCAGGAGCCCCTCAGATTGTACCTTGCTTTCTCACCAATAGACACCTTCCCGACACTTTTTTAATGTTGTAGCTGAGCACTTTAACAAGTTGAGCATTCCATGTTTCATTCTTAGAACCTTCTTTAATAGAGGGTCTTCCCTCAACAGCCTGTGCCTCTGGTCTACCTTTGACCACCACTGATAACTAATATATTGGTCACAATGACTGGAATGTGACTAGTGATCTCAGGAGATGGCACTGTCCTAAAGTGCTGTCAGGGTGGCACCACTGCTCTCTGAACAACTTACCTTGGTCAGAGGGACTCAGGTTTGGGACAGCACAAGCTGAAGGCTGGAGAGTAACTTGCATAGTAGGACCATACCTCTTCCTTTCCCATCCCACCCACATATGATAGACAGCCCCTCTGTTGAGATATGGAGGGGACAGATACTGGAATCGGGGGTGGGACTTGCAGTTACTTAAAATTTTTTAATAAACTGTGCCCTGAAACCT
VastDB Features
Vast-tools module Information
Secondary ID
ENSG00000197283:ENST00000629380:18
Average complexity
IR
Mappability confidence:
NA
Protein Impact
Alternative protein isoforms
No structure available
Features
Disorder rate (Iupred):
C1=0.589 A=NA C2=1.000
Domain overlap (PFAM):
C1:
PF120043=DUF3498=FE(5.2=100)
A:
NA
C2:
PF120043=DUF3498=PD(2.9=34.7)
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