Details for: SYNGAP1
Associated with
Significant Cells
Cell Significance Index (CSI) scores for the chosen context(s)
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CSI 7.75rCSI 13.69%PRS 76.73
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CSI 4.87rCSI 6.28%PRS 78.36
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CSI 3.94rCSI 14.18%PRS 75.23
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CSI 3.24rCSI 13.77%PRS 83.28
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CSI 3.11rCSI 2.3%PRS 86.63
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CSI 3.03rCSI 6.09%PRS 84.12
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CSI 2.89rCSI 4.73%PRS 83.21
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CSI 2.8rCSI 2.46%PRS 93.19
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CSI 2.75rCSI 2.74%PRS 84.76
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CSI 2.63rCSI 1.77%PRS 97.58
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CSI 2.59rCSI 9.72%PRS 85.56
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CSI 2.51rCSI 4.07%PRS 84.58
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CSI 2.35rCSI 3.46%PRS 85.06
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CSI 2.29rCSI 3.49%PRS 87.03
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CSI 2.28rCSI 2.84%PRS 75.1
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CSI 2.2rCSI 3.86%PRS 86.5
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CSI 2.19rCSI 2.24%PRS 95.02
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CSI 2.15rCSI 3.42%PRS 85.53
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CSI 2.11rCSI 2.52%PRS 77.35
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CSI 2.1rCSI 3%PRS 90.38
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CSI 2.09rCSI 4.24%PRS 72.76
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CSI 2.06rCSI 4.92%PRS 92.44
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CSI 2.04rCSI 2.45%PRS 89.07
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CSI 1.94rCSI 7.9%PRS 83.14
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CSI 1.91rCSI 1.68%PRS 81.68
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CSI 1.91rCSI 2.2%PRS 83.17
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CSI 1.83rCSI 5.32%PRS 81.82
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CSI 1.81rCSI 4.17%PRS 81.01
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CSI 1.79rCSI 2.07%PRS 84.77
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CSI 1.61rCSI 4.25%PRS 93.9
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CSI 1.58rCSI 2.16%PRS 83.97
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CSI 1.48rCSI 35.32%PRS 74.96
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CSI 1.45rCSI 34.97%PRS 75.11
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CSI 1.44rCSI 4.51%PRS 78.64
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CSI 1.23rCSI 4.17%PRS 85.22
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CSI 1.19rCSI 2.84%PRS 79.85
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CSI 1.18rCSI 2.87%PRS 75.04
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CSI 1.16rCSI 2.61%PRS 77.73
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CSI 1.12rCSI 1.81%PRS 78.22
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CSI 1.08rCSI 3.55%PRS 78.78
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CSI 1.03rCSI 3.89%PRS 77.48
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CSI 1rCSI 8.11%PRS 87.44
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CSI 0.97rCSI 2.15%PRS 79.7
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CSI 0.94rCSI 2.15%PRS 83.49
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CSI 0.93rCSI 5.47%PRS 77.72
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CSI 0.93rCSI 5.25%PRS 79.49
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CSI 0.67rCSI 4.96%PRS 81.77
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CSI 0.38rCSI 3.23%PRS 82.19
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this specific cell.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Fold Change: Represents the ratio of the current Cell Significance Index to the Cell Significance Index Threshold, indicating how much the gene expression has changed compared to a baseline.
Cell Significance Index: Reflects how strongly a gene is expressed in this cell type. Calculated using techniques like effect size estimation and bootstrapping for reliability.
Network Configuration
Explore relationships of the current gene. Select an Interaction Source: 'ONTOLOGY' for shared pathways (GO/Reactome) or 'STRING' for protein-protein interactions. Further refine by selecting context genes and comparing Cell Significance Index (CSI) scores between baseline and target cell types and their specific contexts.
Legend:
- Query Gene
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Node Color (Target Cell CSI, relative to current network):
- Very High
- High
- Medium
- Low
- Very Low
- CSI N/A
- Node Size: Proportional to Target Cell CSI magnitude
- STRING PPI Edge
- Shared Pathway Edge (ONTOLOGY)
Other Information
This section provides additional information about the gene, including a description generated by an AI language model and details about associated proteins.
Genular Protein ID: 1849853993
Symbol: SYGP1_HUMAN
Name: Ras/Rap GTPase-activating protein SynGAP
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11572484
Title: Prediction of the coding sequences of unidentified human genes. XXI. The complete sequences of 60 new cDNA clones from brain which code for large proteins.
PubMed ID: 11572484
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
PubMed ID: 17974005
Title: The full-ORF clone resource of the German cDNA consortium.
PubMed ID: 17974005
PubMed ID: 15312654
Title: SynGAP-MUPP1-CaMKII synaptic complexes regulate p38 MAP kinase activity and NMDA receptor-dependent synaptic AMPA receptor potentiation.
PubMed ID: 15312654
PubMed ID: 19196676
Title: Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation.
PubMed ID: 19196676
PubMed ID: 21076407
PubMed ID: 21237447
Title: De novo SYNGAP1 mutations in nonsyndromic intellectual disability and autism.
PubMed ID: 21237447
PubMed ID: 23161826
Title: Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency.
PubMed ID: 23161826
DOI: 10.1002/humu.22248
PubMed ID: 23708187
Title: Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.
PubMed ID: 23708187
DOI: 10.1038/ng.2646
PubMed ID: 27864847
Title: Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes.
PubMed ID: 27864847
DOI: 10.1002/humu.23149
Sequence Information:
- Length: 1343
- Mass: 148284
- Checksum: D9ABE21054677AA0
- Sequence:
MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSIDLQ SFMARGLNSS MDMARLPSPT KEKPPPPPPG GGKDLFYVSR PPLARSSPAY CTSSSDITEP EQKMLSVNKS VSMLDLQGDG PGGRLNSSSV SNLAAVGDLL HSSQASLTAA LGLRPAPAGR LSQGSGSSIT AAGMRLSQMG VTTDGVPAQQ LRIPLSFQNP LFHMAADGPG PPGGHGGGGG HGPPSSHHHH HHHHHHRGGE PPGDTFAPFH GYSKSEDLSS GVPKPPAASI LHSHSYSDEF GPSGTDFTRR QLSLQDNLQH MLSPPQITIG PQRPAPSGPG GGSGGGSGGG GGGQPPPLQR GKSQQLTVSA AQKPRPSSGN LLQSPEPSYG PARPRQQSLS KEGSIGGSGG SGGGGGGGLK PSITKQHSQT PSTLNPTMPA SERTVAWVSN MPHLSADIES AHIEREEYKL KEYSKSMDES RLDRVKEYEE EIHSLKERLH MSNRKLEEYE RRLLSQEEQT SKILMQYQAR LEQSEKRLRQ QQAEKDSQIK SIIGRLMLVE EELRRDHPAM AEPLPEPKKR LLDAQERQLP PLGPTNPRVT LAPPWNGLAP PAPPPPPRLQ ITENGEFRNT ADH
Genular Protein ID: 890057780
Symbol: B7ZCA0_HUMAN
Name: N/A
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 11237011
Title: Initial sequencing and analysis of the human genome.
PubMed ID: 11237011
DOI: 10.1038/35057062
PubMed ID: 14574404
Title: The DNA sequence and analysis of human chromosome 6.
PubMed ID: 14574404
DOI: 10.1038/nature02055
PubMed ID: 15496913
Title: Finishing the euchromatic sequence of the human genome.
PubMed ID: 15496913
DOI: 10.1038/nature03001
Sequence Information:
- Length: 1292
- Mass: 142865
- Checksum: 32B08188D2840287
- Sequence:
MSRSRASIHR GSIPAMSYAP FRDVRGPSMH RTQYVHSPYD RPGWNPRFCI ISGNQLLMLD EDEIHPLLIR DRRSESSRNK LLRRTVSVPV EGRPHGEHEY HLGRSRRKSV PGGKQYSMEG APAAPFRPSQ GFLSRRLKSS IKRTKSQPKL DRTSSFRQIL PRFRSADHDR ARLMQSFKES HSHESLLSPS SAAEALELNL DEDSIIKPVH SSILGQEFCF EVTTSSGTKC FACRSAAERD KWIENLQRAV KPNKDNSRRV DNVLKLWIIE ARELPPKKRY YCELCLDDML YARTTSKPRS ASGDTVFWGE HFEFNNLPAV RALRLHLYRD SDKKRKKDKA GYVGLVTVPV ATLAGRHFTE QWYPVTLPTG SGGSGGMGSG GGGGSGGGSG GKGKGGCPAV RLKARYQTMS ILPMELYKEF AEYVTNHYRM LCAVLEPALN VKGKEEVASA LVHILQSTGK AKDFLSDMAM SEVDRFMERE HLIFRENTLA TKAIEEYMRL IGQKYLKDAI GEFIRALYES EENCEVDPIK CTASSLAEHQ ANLRMCCELA LCKVVNSHCV FPRELKEVFA SWRLRCAERG REDIADRLIS ASLFLRFLCP AIMSPSLFGL MQEYPDEQTS RTLTLIAKVI QNLANFSKFT SKEDFLGFMN EFLELEWGSM QQFLYEISNL DTLTNSSSFE GYIDLGRELS TLHALLWEVL PQLSKEALLK LGPLPRLLND ISTALRNPNI QRQPSRQSER PRPQPVVLRG PSAEMQGYMM RDLNSSMDMA RLPSPTKEKP PPPPPGGGKD LFYVSRPPLA RSSPAYCTSS SDITEPEQKM LSVNKSVSML DLQGDGPGGR LNSSSVSNLA AVGDLLHSSQ ASLTAALGLR PAPAGRLSQG SGSSITAAGM RLSQMGVTTD GVPAQQLRIP LSFQNPLFHM AADGPGPPGG HGGGGGHGPP SSHHHHHHHH HHRGGEPPGD TFAPFHGYSK SEDLSSGVPK PPAASILHSH SYSDEFGPSG TDFTRRQLSL QDNLQHMLSP PQITIGPQRP APSGPGGGSG GGSGGGGGGQ PPPLQRGKSQ QLTVSAAQKP RPSSGNLLQS PEPSYGPARP RQQSLSKEGS IGGSGGSGGG GGGGLKPSIT KQHSQTPSTL NPTMPASERT VAWVSNMPHL SADIESAHIE REEYKLKEYS KSMDESRLDR EYEEEIHSLK ERLHMSNRKL EEYERRLLSQ EEQTSKILMQ YQARLEQSEK RLRQQQAEKD SQIKSIIGRL MLVEEELRRD HPAMAEPLPE PKKRLLDAQR GSFPPWVQQT RV