Details for: ACVRL1
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: embryonic stem cell (CL0002322)
Fold Change: 40.5634
Cell Significance Index: -16.7100 - Cell Name: mucosal type mast cell (CL0000485)
Fold Change: 37.5378
Cell Significance Index: -15.2500 - Cell Name: ciliated cell of the bronchus (CL0002332)
Fold Change: 16.0672
Cell Significance Index: -15.3400 - Cell Name: lung endothelial cell (CL1001567)
Fold Change: 7.7532
Cell Significance Index: 403.8600 - Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
Fold Change: 6.6969
Cell Significance Index: -17.9400 - Cell Name: stromal cell of bone marrow (CL0010001)
Fold Change: 3.9913
Cell Significance Index: -15.7500 - Cell Name: decidual cell (CL2000002)
Fold Change: 2.3299
Cell Significance Index: 37.3800 - Cell Name: endothelial cell of venule (CL1000414)
Fold Change: 1.8353
Cell Significance Index: 20.8500 - Cell Name: glomerular capillary endothelial cell (CL1001005)
Fold Change: 1.2181
Cell Significance Index: 4.5400 - Cell Name: pulmonary capillary endothelial cell (CL4028001)
Fold Change: 0.9998
Cell Significance Index: 13.6900 - Cell Name: skeletal muscle fibroblast (CL0011027)
Fold Change: 0.9815
Cell Significance Index: 6.6500 - Cell Name: vascular lymphangioblast (CL0005022)
Fold Change: 0.6771
Cell Significance Index: 11.9700 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.6726
Cell Significance Index: 607.2700 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.6375
Cell Significance Index: 63.0600 - Cell Name: endothelial cell of uterus (CL0009095)
Fold Change: 0.5718
Cell Significance Index: 3.5800 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: 0.5465
Cell Significance Index: 15.6700 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.4612
Cell Significance Index: 75.0100 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.4372
Cell Significance Index: 19.8200 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.4261
Cell Significance Index: 46.3500 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.3620
Cell Significance Index: 5.6000 - Cell Name: odontoblast (CL0000060)
Fold Change: 0.3395
Cell Significance Index: 43.5200 - Cell Name: preadipocyte (CL0002334)
Fold Change: 0.2915
Cell Significance Index: 5.6900 - Cell Name: endothelial cell of placenta (CL0009092)
Fold Change: 0.2896
Cell Significance Index: 1.7500 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: 0.2271
Cell Significance Index: 15.7100 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0951
Cell Significance Index: 18.1000 - Cell Name: fibro/adipogenic progenitor cell (CL0009099)
Fold Change: 0.0595
Cell Significance Index: 3.0100 - Cell Name: cardiac endothelial cell (CL0010008)
Fold Change: 0.0549
Cell Significance Index: 0.7900 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: 0.0471
Cell Significance Index: 29.4000 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0066
Cell Significance Index: 0.1900 - Cell Name: prostate gland microvascular endothelial cell (CL2000059)
Fold Change: 0.0000
Cell Significance Index: 0.0000 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0034
Cell Significance Index: -0.1200 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0048
Cell Significance Index: -0.1200 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0069
Cell Significance Index: -12.9100 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0086
Cell Significance Index: -1.0000 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0097
Cell Significance Index: -7.2200 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0103
Cell Significance Index: -1.4200 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0103
Cell Significance Index: -18.9100 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0124
Cell Significance Index: -19.0500 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0140
Cell Significance Index: -19.0500 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0169
Cell Significance Index: -9.5100 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0197
Cell Significance Index: -14.9400 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0223
Cell Significance Index: -16.3800 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0254
Cell Significance Index: -16.1300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.0262
Cell Significance Index: -0.8400 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0263
Cell Significance Index: -14.3700 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0376
Cell Significance Index: -17.0800 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.0387
Cell Significance Index: -6.9700 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0410
Cell Significance Index: -8.6300 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: -0.0423
Cell Significance Index: -15.1800 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.0494
Cell Significance Index: -8.4300 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.0512
Cell Significance Index: -10.1700 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0521
Cell Significance Index: -14.9900 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.0531
Cell Significance Index: -1.1500 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -0.0580
Cell Significance Index: -0.9700 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.0653
Cell Significance Index: -1.3900 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: -0.0775
Cell Significance Index: -15.5400 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.1012
Cell Significance Index: -12.4400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1073
Cell Significance Index: -15.6000 - Cell Name: pancreatic endocrine cell (CL0008024)
Fold Change: -0.1134
Cell Significance Index: -12.9400 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.1198
Cell Significance Index: -12.2400 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: -0.1282
Cell Significance Index: -7.8600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.1299
Cell Significance Index: -14.8900 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.1345
Cell Significance Index: -17.3800 - Cell Name: Hofbauer cell (CL3000001)
Fold Change: -0.1373
Cell Significance Index: -1.1200 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.1514
Cell Significance Index: -15.7600 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.1522
Cell Significance Index: -17.9500 - Cell Name: paneth cell of colon (CL0009009)
Fold Change: -0.1715
Cell Significance Index: -2.5700 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.1778
Cell Significance Index: -7.7300 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.1792
Cell Significance Index: -13.7500 - Cell Name: fibroblast of dermis (CL0002551)
Fold Change: -0.1964
Cell Significance Index: -4.1100 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2093
Cell Significance Index: -16.5800 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.2096
Cell Significance Index: -9.8500 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.2181
Cell Significance Index: -10.1700 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.2336
Cell Significance Index: -17.4100 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: -0.2516
Cell Significance Index: -16.9200 - Cell Name: neuron associated cell (CL0000095)
Fold Change: -0.2589
Cell Significance Index: -10.6100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.2703
Cell Significance Index: -17.4400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.2849
Cell Significance Index: -17.5100 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.3213
Cell Significance Index: -18.0300 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.3457
Cell Significance Index: -17.9600 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.3784
Cell Significance Index: -7.8500 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.3837
Cell Significance Index: -16.9700 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.4135
Cell Significance Index: -10.6300 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.4434
Cell Significance Index: -11.8600 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.4479
Cell Significance Index: -16.9600 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.4556
Cell Significance Index: -15.9600 - Cell Name: cortical cell of adrenal gland (CL0002097)
Fold Change: -0.4568
Cell Significance Index: -12.2400 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.4625
Cell Significance Index: -16.0700 - Cell Name: endothelial cell (CL0000115)
Fold Change: -0.4678
Cell Significance Index: -5.7500 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.4772
Cell Significance Index: -7.5700 - Cell Name: endothelial stalk cell (CL0002671)
Fold Change: -0.4832
Cell Significance Index: -5.4200 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4853
Cell Significance Index: -15.8900 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.4938
Cell Significance Index: -7.1700 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -0.4973
Cell Significance Index: -10.1200 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.4996
Cell Significance Index: -18.3400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.5027
Cell Significance Index: -14.0500 - Cell Name: connective tissue cell (CL0002320)
Fold Change: -0.5057
Cell Significance Index: -4.8800 - Cell Name: endothelial cell of vascular tree (CL0002139)
Fold Change: -0.5170
Cell Significance Index: -7.1000 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.5206
Cell Significance Index: -16.5800 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -0.5282
Cell Significance Index: -14.1100
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: 336944737
Symbol: ACVL1_HUMAN
Name: Activin receptor-like kinase 1
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 8397373
Title: Activin receptor-like kinases: a novel subclass of cell-surface receptors with predicted serine/threonine kinase activity.
PubMed ID: 8397373
PubMed ID: 8242742
Title: Identification of human activin and TGF beta type I receptors that form heteromeric kinase complexes with type II receptors.
PubMed ID: 8242742
PubMed ID: 9245985
Title: The activin receptor-like kinase 1 gene: genomic structure and mutations in hereditary hemorrhagic telangiectasia type 2.
PubMed ID: 9245985
DOI: 10.1086/513903
PubMed ID: 16541075
Title: The finished DNA sequence of human chromosome 12.
PubMed ID: 16541075
DOI: 10.1038/nature04569
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: 21791611
Title: TSC-22 promotes transforming growth factor beta-mediated cardiac myofibroblast differentiation by antagonizing Smad7 activity.
PubMed ID: 21791611
DOI: 10.1128/mcb.05448-11
PubMed ID: 22799562
Title: Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties.
PubMed ID: 22799562
DOI: 10.1021/bi300942x
PubMed ID: 22718755
Title: Specificity and structure of a high affinity activin receptor-like kinase 1 (ALK1) signaling complex.
PubMed ID: 22718755
PubMed ID: 8640225
Title: Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2.
PubMed ID: 8640225
DOI: 10.1038/ng0696-189
PubMed ID: 10694922
Title: Novel missense and frameshift mutations in the activin receptor-like kinase-1 gene in hereditary hemorrhagic telangiectasia.
PubMed ID: 10694922
DOI: 10.1002/(sici)1098-1004(1998)12:2<137::aid-humu16>3.0.co;2-j
PubMed ID: 10767348
Title: Analysis of ALK-1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2.
PubMed ID: 10767348
DOI: 10.1093/hmg/9.8.1227
PubMed ID: 11170071
Title: Mutations in the ALK-1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families.
PubMed ID: 11170071
DOI: 10.1002/1096-8628(20010201)98:4<298::aid-ajmg1093>3.0.co;2-k
PubMed ID: 11484689
Title: Clinical and molecular genetic features of pulmonary hypertension in patients with hereditary hemorrhagic telangiectasia.
PubMed ID: 11484689
PubMed ID: 14684682
Title: Molecular and functional analysis identifies ALK-1 as the predominant cause of pulmonary hypertension related to hereditary haemorrhagic telangiectasia.
PubMed ID: 14684682
PubMed ID: 15024723
Title: Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France.
PubMed ID: 15024723
DOI: 10.1002/humu.20017
PubMed ID: 15712270
Title: Hepatic manifestation is associated with ALK1 in hereditary hemorrhagic telangiectasia: identification of five novel ALK1 and one novel ENG mutations.
PubMed ID: 15712270
DOI: 10.1002/humu.9311
PubMed ID: 16752392
Title: Novel mutations in ENG and ACVRL1 identified in a series of 200 individuals undergoing clinical genetic testing for hereditary hemorrhagic telangiectasia (HHT): correlation of genotype with phenotype.
PubMed ID: 16752392
DOI: 10.1002/humu.20342
PubMed ID: 16525724
Title: Novel mutations in the ENG and ACVRL1 genes causing hereditary hemorrhagic teleangiectasia.
PubMed ID: 16525724
PubMed ID: 20414677
Title: Update on molecular diagnosis of hereditary hemorrhagic telangiectasia.
PubMed ID: 20414677
PubMed ID: 24936649
Title: Novel mutations in BMPR2, ACVRL1 and KCNA5 genes and hemodynamic parameters in patients with pulmonary arterial hypertension.
PubMed ID: 24936649
PubMed ID: 26176610
Title: Functional and splicing defect analysis of 23 ACVRL1 mutations in a cohort of patients affected by hereditary hemorrhagic telangiectasia.
PubMed ID: 26176610
Sequence Information:
- Length: 503
- Mass: 56124
- Checksum: 074522AA802325DD
- Sequence:
MTLGSPRKGL LMLLMALVTQ GDPVKPSRGP LVTCTCESPH CKGPTCRGAW CTVVLVREEG RHPQEHRGCG NLHRELCRGR PTEFVNHYCC DSHLCNHNVS LVLEATQPPS EQPGTDGQLA LILGPVLALL ALVALGVLGL WHVRRRQEKQ RGLHSELGES SLILKASEQG DSMLGDLLDS DCTTGSGSGL PFLVQRTVAR QVALVECVGK GRYGEVWRGL WHGESVAVKI FSSRDEQSWF RETEIYNTVL LRHDNILGFI ASDMTSRNSS TQLWLITHYH EHGSLYDFLQ RQTLEPHLAL RLAVSAACGL AHLHVEIFGT QGKPAIAHRD FKSRNVLVKS NLQCCIADLG LAVMHSQGSD YLDIGNNPRV GTKRYMAPEV LDEQIRTDCF ESYKWTDIWA FGLVLWEIAR RTIVNGIVED YRPPFYDVVP NDPSFEDMKK VVCVDQQTPT IPNRLAADPV LSGLAQMMRE CWYPNPSARL TALRIKKTLQ KISNSPEKPK VIQ
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.