Details for: STXBP1
Associated with
Cells (max top 100)
(Cell Significance Index and respective Thresholds are uniquely calculated using our advanced thresholding algorithms to reveal cell-specific gene markers)
- Cell Name: polychromatophilic erythroblast (CL0000550)
Fold Change: 333.5364
Cell Significance Index: -51.8800 - Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
Fold Change: 205.6036
Cell Significance Index: -52.1500 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 92.4538
Cell Significance Index: -37.5600 - Cell Name: orthochromatic erythroblast (CL0000552)
Fold Change: 42.3454
Cell Significance Index: -52.2100 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 39.2985
Cell Significance Index: -37.5200 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 13.2512
Cell Significance Index: -52.2900 - Cell Name: epidermal Langerhans cell (CL0002457)
Fold Change: 8.8687
Cell Significance Index: -19.4100 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 6.1236
Cell Significance Index: 47.2000 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: 5.2240
Cell Significance Index: 329.2600 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 4.6622
Cell Significance Index: 79.9000 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 4.4968
Cell Significance Index: 55.7800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 3.0455
Cell Significance Index: 204.7800 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 2.8866
Cell Significance Index: 579.0500 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 2.7924
Cell Significance Index: 1001.6000 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 2.6842
Cell Significance Index: 76.6000 - Cell Name: cortical interneuron (CL0008031)
Fold Change: 2.1282
Cell Significance Index: 51.0400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 2.0356
Cell Significance Index: 125.1200 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 2.0098
Cell Significance Index: 105.5200 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 1.9659
Cell Significance Index: 102.4000 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: 1.7324
Cell Significance Index: 23.1100 - Cell Name: GABAergic interneuron (CL0011005)
Fold Change: 1.6296
Cell Significance Index: 1127.0900 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 1.5293
Cell Significance Index: 57.9100 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 1.1946
Cell Significance Index: 52.8400 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.9463
Cell Significance Index: 854.4300 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.8358
Cell Significance Index: 18.3000 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.5244
Cell Significance Index: 85.2900 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: 0.5242
Cell Significance Index: 40.2300 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: 0.4653
Cell Significance Index: 9.9500 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.3962
Cell Significance Index: 43.0900 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.3591
Cell Significance Index: 71.2600 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: 0.3046
Cell Significance Index: 414.2000 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.2944
Cell Significance Index: 16.5200 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.2163
Cell Significance Index: 41.1700 - Cell Name: decidual cell (CL2000002)
Fold Change: 0.2094
Cell Significance Index: 3.3600 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.2078
Cell Significance Index: 319.9100 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.1838
Cell Significance Index: 338.9900 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.1683
Cell Significance Index: 316.8300 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1589
Cell Significance Index: 15.7200 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.1178
Cell Significance Index: 7.0700 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.1044
Cell Significance Index: 7.2200 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: 0.0874
Cell Significance Index: 55.5000 - Cell Name: cell in vitro (CL0001034)
Fold Change: 0.0775
Cell Significance Index: 42.3000 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0633
Cell Significance Index: 11.4100 - Cell Name: retinal rod cell (CL0000604)
Fold Change: 0.0428
Cell Significance Index: 0.5100 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: 0.0310
Cell Significance Index: 13.7200 - Cell Name: hippocampal interneuron (CL1001569)
Fold Change: 0.0216
Cell Significance Index: 0.2800 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: 0.0114
Cell Significance Index: 1.5600 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: -0.0028
Cell Significance Index: -0.0800 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0031
Cell Significance Index: -2.2700 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0061
Cell Significance Index: -2.7600 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0096
Cell Significance Index: -5.9800 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0151
Cell Significance Index: -11.4400 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0217
Cell Significance Index: -3.7100 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0245
Cell Significance Index: -0.8600 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0418
Cell Significance Index: -6.0800 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0500
Cell Significance Index: -36.6500 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0501
Cell Significance Index: -28.2700 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0590
Cell Significance Index: -6.8800 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.0684
Cell Significance Index: -3.1000 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: -0.0827
Cell Significance Index: -1.1900 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0919
Cell Significance Index: -11.3000 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0948
Cell Significance Index: -19.9600 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.1039
Cell Significance Index: -13.3200 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1496
Cell Significance Index: -43.0300 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.1665
Cell Significance Index: -3.2500 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.2114
Cell Significance Index: -4.5800 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: -0.2173
Cell Significance Index: -2.7100 - Cell Name: cerebral cortex neuron (CL0010012)
Fold Change: -0.2375
Cell Significance Index: -2.2600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2393
Cell Significance Index: -27.4200 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.2656
Cell Significance Index: -34.3100 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.2917
Cell Significance Index: -33.3000 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.3144
Cell Significance Index: -10.0700 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.3179
Cell Significance Index: -32.4700 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.3365
Cell Significance Index: -35.0400 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.3425
Cell Significance Index: -7.2700 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.3883
Cell Significance Index: -45.7900 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.3960
Cell Significance Index: -7.9500 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.4117
Cell Significance Index: -8.1400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.4437
Cell Significance Index: -12.4000 - Cell Name: glutamatergic neuron (CL0000679)
Fold Change: -0.4553
Cell Significance Index: -4.9600 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.4842
Cell Significance Index: -15.4200 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.4875
Cell Significance Index: -29.8900 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.4946
Cell Significance Index: -36.8600 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: -0.4955
Cell Significance Index: -6.7600 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.5067
Cell Significance Index: -16.5900 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.5098
Cell Significance Index: -23.9600 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.5239
Cell Significance Index: -41.4900 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.5413
Cell Significance Index: -25.2400 - Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: -0.5419
Cell Significance Index: -6.8400 - Cell Name: sebum secreting cell (CL0000317)
Fold Change: -0.5570
Cell Significance Index: -39.3900 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.6055
Cell Significance Index: -12.5600 - Cell Name: OFF-bipolar cell (CL0000750)
Fold Change: -0.6198
Cell Significance Index: -5.4600 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.6700
Cell Significance Index: -14.4800 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.6924
Cell Significance Index: -9.9200 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.7063
Cell Significance Index: -45.5700 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -0.7326
Cell Significance Index: -21.0000 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.8043
Cell Significance Index: -41.7800 - Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: -0.8233
Cell Significance Index: -9.9800 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.8609
Cell Significance Index: -18.3400 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.9004
Cell Significance Index: -22.4600
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.
Other Information
Genular Protein ID: 2095627506
Symbol: STXB1_HUMAN
Name: Syntaxin-binding protein 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8824310
Title: A murine neural-specific homolog corrects cholinergic defects in Caenorhabditis elegans unc-18 mutants.
PubMed ID: 8824310
PubMed ID: 9545644
Title: Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release.
PubMed ID: 9545644
PubMed ID: 15164053
Title: DNA sequence and analysis of human chromosome 9.
PubMed ID: 15164053
DOI: 10.1038/nature02465
PubMed ID: 15489334
Title: The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
PubMed ID: 15489334
DOI: 10.1101/gr.2596504
PubMed ID: 12730201
Title: Ca2+-dependent phosphorylation of syntaxin-1A by the death-associated protein (DAP) kinase regulates its interaction with Munc18.
PubMed ID: 12730201
PubMed ID: 27597756
Title: Munc18-1 is a molecular chaperone for alpha-synuclein, controlling its self-replicating aggregation.
PubMed ID: 27597756
PubMed ID: 18469812
Title: De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
PubMed ID: 18469812
DOI: 10.1038/ng.150
PubMed ID: 18669648
Title: A quantitative atlas of mitotic phosphorylation.
PubMed ID: 18669648
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 23186163
Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.
PubMed ID: 23186163
DOI: 10.1021/pr300630k
PubMed ID: 20887364
Title: STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
PubMed ID: 20887364
PubMed ID: 21770924
Title: Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
PubMed ID: 21770924
PubMed ID: 23662938
Title: Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
PubMed ID: 23662938
DOI: 10.1111/epi.12203
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: 24170257
Title: A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
PubMed ID: 24170257
PubMed ID: 24623842
Title: GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
PubMed ID: 24623842
PubMed ID: 25818041
Title: Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
PubMed ID: 25818041
DOI: 10.1111/epi.12954
PubMed ID: 25714420
Title: A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.
PubMed ID: 25714420
PubMed ID: 26993267
Title: Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.
PubMed ID: 26993267
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: 594
- Mass: 67569
- Checksum: 2DD0715F875CE0F3
- Sequence:
MAPIGLKAVV GEKIMHDVIK KVKKKGEWKV LVVDQLSMRM LSSCCKMTDI MTEGITIVED INKRREPLPS LEAVYLITPS EKSVHSLISD FKDPPTAKYR AAHVFFTDSC PDALFNELVK SRAAKVIKTL TEINIAFLPY ESQVYSLDSA DSFQSFYSPH KAQMKNPILE RLAEQIATLC ATLKEYPAVR YRGEYKDNAL LAQLIQDKLD AYKADDPTMG EGPDKARSQL LILDRGFDPS SPVLHELTFQ AMSYDLLPIE NDVYKYETSG IGEARVKEVL LDEDDDLWIA LRHKHIAEVS QEVTRSLKDF SSSKRMNTGE KTTMRDLSQM LKKMPQYQKE LSKYSTHLHL AEDCMKHYQG TVDKLCRVEQ DLAMGTDAEG EKIKDPMRAI VPILLDANVS TYDKIRIILL YIFLKNGITE ENLNKLIQHA QIPPEDSEII TNMAHLGVPI VTDSTLRRRS KPERKERISE QTYQLSRWTP IIKDIMEDTI EDKLDTKHYP YISTRSSASF STTAVSARYG HWHKNKAPGE YRSGPRLIIF ILGGVSLNEM RCAYEVTQAN GKWEVLIGST HILTPQKLLD TLKKLNKTDE EISS
Database document:
This is a preview of the gene's schema. Only a few entries are kept for 'singleCellExpressions,' 'mRNAExpressions,' and other large data arrays for visualization purposes. You can zoom in with the mouse wheel for a closer view, and the text will adjust automatically if necessary. For the full schema, download it here.