Details for: FZR1

Gene ID: 51343

Symbol: FZR1

Ensembl ID: ENSG00000105325

Description: fizzy and cell division cycle 20 related 1

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: 105.3070
    Cell Significance Index: -16.3800
  • Cell Name: hematopoietic oligopotent progenitor cell (CL0002032)
    Fold Change: 67.4963
    Cell Significance Index: -17.1200
  • Cell Name: smooth muscle fiber of ileum (CL1000278)
    Fold Change: 38.4222
    Cell Significance Index: -18.1400
  • Cell Name: mucosal type mast cell (CL0000485)
    Fold Change: 35.9871
    Cell Significance Index: -14.6200
  • Cell Name: ciliated cell of the bronchus (CL0002332)
    Fold Change: 15.4701
    Cell Significance Index: -14.7700
  • Cell Name: orthochromatic erythroblast (CL0000552)
    Fold Change: 13.7637
    Cell Significance Index: -16.9700
  • Cell Name: CD8-alpha-beta-positive, alpha-beta intraepithelial T cell (CL0000796)
    Fold Change: 5.8980
    Cell Significance Index: -15.8000
  • Cell Name: CD8-positive, alpha-beta regulatory T cell (CL0000795)
    Fold Change: 4.6395
    Cell Significance Index: -14.2500
  • Cell Name: stromal cell of bone marrow (CL0010001)
    Fold Change: 4.5514
    Cell Significance Index: -17.9600
  • Cell Name: epidermal Langerhans cell (CL0002457)
    Fold Change: 2.7963
    Cell Significance Index: -6.1200
  • Cell Name: epithelial cell of pancreas (CL0000083)
    Fold Change: 2.4954
    Cell Significance Index: 41.1200
  • Cell Name: epithelial cell of stomach (CL0002178)
    Fold Change: 1.5196
    Cell Significance Index: 177.0900
  • Cell Name: colon goblet cell (CL0009039)
    Fold Change: 1.2530
    Cell Significance Index: 123.9500
  • Cell Name: epidermal cell (CL0000362)
    Fold Change: 1.2375
    Cell Significance Index: 2.7900
  • Cell Name: tuft cell of colon (CL0009041)
    Fold Change: 1.1405
    Cell Significance Index: 1029.7800
  • Cell Name: decidual cell (CL2000002)
    Fold Change: 0.9954
    Cell Significance Index: 15.9700
  • Cell Name: basal cell of prostate epithelium (CL0002341)
    Fold Change: 0.9302
    Cell Significance Index: 25.3200
  • Cell Name: cortical cell of adrenal gland (CL0002097)
    Fold Change: 0.8783
    Cell Significance Index: 23.5400
  • Cell Name: enterocyte of epithelium of small intestine (CL1000334)
    Fold Change: 0.8328
    Cell Significance Index: 24.0000
  • Cell Name: intestinal crypt stem cell of colon (CL0009043)
    Fold Change: 0.7952
    Cell Significance Index: 86.4900
  • Cell Name: paneth cell of epithelium of small intestine (CL1000343)
    Fold Change: 0.7756
    Cell Significance Index: 16.8000
  • Cell Name: epithelial cell of small intestine (CL0002254)
    Fold Change: 0.7616
    Cell Significance Index: 123.8700
  • Cell Name: gut absorptive cell (CL0000677)
    Fold Change: 0.6231
    Cell Significance Index: 37.4100
  • Cell Name: placental villous trophoblast (CL2000060)
    Fold Change: 0.4979
    Cell Significance Index: 13.3000
  • Cell Name: neoplastic cell (CL0001063)
    Fold Change: 0.4814
    Cell Significance Index: 95.5300
  • Cell Name: microfold cell of epithelium of small intestine (CL1000353)
    Fold Change: 0.4383
    Cell Significance Index: 30.3100
  • Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
    Fold Change: 0.4276
    Cell Significance Index: 11.9500
  • Cell Name: bladder urothelial cell (CL1001428)
    Fold Change: 0.3921
    Cell Significance Index: 20.3700
  • Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
    Fold Change: 0.3618
    Cell Significance Index: 129.7800
  • Cell Name: lung endothelial cell (CL1001567)
    Fold Change: 0.3509
    Cell Significance Index: 18.2800
  • Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
    Fold Change: 0.3309
    Cell Significance Index: 24.6700
  • Cell Name: enterocyte of epithelium of large intestine (CL0002071)
    Fold Change: 0.3214
    Cell Significance Index: 14.5700
  • Cell Name: small intestine goblet cell (CL1000495)
    Fold Change: 0.2317
    Cell Significance Index: 8.1400
  • Cell Name: enteroendocrine cell of colon (CL0009042)
    Fold Change: 0.2076
    Cell Significance Index: 39.5100
  • Cell Name: cell in vitro (CL0001034)
    Fold Change: 0.2046
    Cell Significance Index: 111.7200
  • Cell Name: basal cell of urothelium (CL1000486)
    Fold Change: 0.1977
    Cell Significance Index: 24.3100
  • Cell Name: hair follicular keratinocyte (CL2000092)
    Fold Change: 0.1833
    Cell Significance Index: 81.0300
  • Cell Name: stromal cell of ovary (CL0002132)
    Fold Change: 0.1729
    Cell Significance Index: 23.7500
  • Cell Name: lactocyte (CL0002325)
    Fold Change: 0.1725
    Cell Significance Index: 22.2900
  • Cell Name: acinar cell of salivary gland (CL0002623)
    Fold Change: 0.1666
    Cell Significance Index: 7.7700
  • Cell Name: intermediate cell of urothelium (CL4030055)
    Fold Change: 0.1501
    Cell Significance Index: 27.0700
  • Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
    Fold Change: 0.1407
    Cell Significance Index: 28.2200
  • Cell Name: eye photoreceptor cell (CL0000287)
    Fold Change: 0.1122
    Cell Significance Index: 7.0700
  • Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
    Fold Change: 0.0984
    Cell Significance Index: 2.1000
  • Cell Name: early pro-B cell (CL0002046)
    Fold Change: 0.0963
    Cell Significance Index: 6.2200
  • Cell Name: GABAergic interneuron (CL0011005)
    Fold Change: 0.0835
    Cell Significance Index: 57.7900
  • Cell Name: odontoblast (CL0000060)
    Fold Change: 0.0825
    Cell Significance Index: 10.5800
  • Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
    Fold Change: 0.0767
    Cell Significance Index: 3.6100
  • Cell Name: forebrain neuroblast (CL1000042)
    Fold Change: 0.0704
    Cell Significance Index: 4.3300
  • Cell Name: glycinergic neuron (CL1001509)
    Fold Change: 0.0619
    Cell Significance Index: 3.2500
  • Cell Name: tonsil germinal center B cell (CL2000006)
    Fold Change: 0.0493
    Cell Significance Index: 5.8100
  • Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
    Fold Change: 0.0354
    Cell Significance Index: 1.2300
  • Cell Name: secondary lens fiber (CL0002225)
    Fold Change: 0.0222
    Cell Significance Index: 30.2400
  • Cell Name: fibroblast of mammary gland (CL0002555)
    Fold Change: 0.0206
    Cell Significance Index: 0.5900
  • Cell Name: pancreatic acinar cell (CL0002064)
    Fold Change: 0.0206
    Cell Significance Index: 3.5100
  • Cell Name: pigmented epithelial cell (CL0000529)
    Fold Change: 0.0176
    Cell Significance Index: 33.0500
  • Cell Name: lens epithelial cell (CL0002224)
    Fold Change: 0.0106
    Cell Significance Index: 16.3500
  • Cell Name: anterior lens cell (CL0002223)
    Fold Change: 0.0018
    Cell Significance Index: 3.4000
  • Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
    Fold Change: -0.0046
    Cell Significance Index: -2.9100
  • Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
    Fold Change: -0.0148
    Cell Significance Index: -10.8900
  • Cell Name: pulmonary alveolar epithelial cell (CL0000322)
    Fold Change: -0.0165
    Cell Significance Index: -12.5000
  • Cell Name: ciliary muscle cell (CL1000443)
    Fold Change: -0.0192
    Cell Significance Index: -8.7300
  • Cell Name: pancreatic A cell (CL0000171)
    Fold Change: -0.0206
    Cell Significance Index: -15.2600
  • Cell Name: type B pancreatic cell (CL0000169)
    Fold Change: -0.0294
    Cell Significance Index: -16.5800
  • Cell Name: pigmented ciliary epithelial cell (CL0002303)
    Fold Change: -0.0304
    Cell Significance Index: -4.4200
  • Cell Name: Hofbauer cell (CL3000001)
    Fold Change: -0.0307
    Cell Significance Index: -0.2500
  • Cell Name: pancreatic PP cell (CL0002275)
    Fold Change: -0.0328
    Cell Significance Index: -20.4900
  • Cell Name: abnormal cell (CL0001061)
    Fold Change: -0.0331
    Cell Significance Index: -3.3800
  • Cell Name: granulosa cell (CL0000501)
    Fold Change: -0.0373
    Cell Significance Index: -0.9800
  • Cell Name: mesenchymal cell (CL0008019)
    Fold Change: -0.0379
    Cell Significance Index: -0.6400
  • Cell Name: hippocampal granule cell (CL0001033)
    Fold Change: -0.0422
    Cell Significance Index: -2.8400
  • Cell Name: dopaminergic neuron (CL0000700)
    Fold Change: -0.0475
    Cell Significance Index: -13.6600
  • Cell Name: Purkinje cell (CL0000121)
    Fold Change: -0.0617
    Cell Significance Index: -1.3500
  • Cell Name: sebum secreting cell (CL0000317)
    Fold Change: -0.0697
    Cell Significance Index: -4.9300
  • Cell Name: cardiac muscle myoblast (CL0000513)
    Fold Change: -0.0708
    Cell Significance Index: -5.4400
  • Cell Name: pancreatic ductal cell (CL0002079)
    Fold Change: -0.0712
    Cell Significance Index: -8.1600
  • Cell Name: retinal progenitor cell (CL0002672)
    Fold Change: -0.0905
    Cell Significance Index: -5.0800
  • Cell Name: pancreatic D cell (CL0000173)
    Fold Change: -0.0974
    Cell Significance Index: -20.5100
  • Cell Name: fibroblast of dermis (CL0002551)
    Fold Change: -0.1161
    Cell Significance Index: -2.4300
  • Cell Name: conjunctival epithelial cell (CL1000432)
    Fold Change: -0.1268
    Cell Significance Index: -1.7300
  • Cell Name: indirect pathway medium spiny neuron (CL4023029)
    Fold Change: -0.1376
    Cell Significance Index: -6.0900
  • Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
    Fold Change: -0.1549
    Cell Significance Index: -16.1300
  • Cell Name: cortical interneuron (CL0008031)
    Fold Change: -0.1814
    Cell Significance Index: -4.3500
  • Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
    Fold Change: -0.1869
    Cell Significance Index: -14.8000
  • Cell Name: cerebellar granule cell (CL0001031)
    Fold Change: -0.1873
    Cell Significance Index: -3.2100
  • Cell Name: hepatoblast (CL0005026)
    Fold Change: -0.1980
    Cell Significance Index: -3.3300
  • Cell Name: direct pathway medium spiny neuron (CL4023026)
    Fold Change: -0.1991
    Cell Significance Index: -7.5400
  • Cell Name: transit amplifying cell of colon (CL0009011)
    Fold Change: -0.2064
    Cell Significance Index: -6.6100
  • Cell Name: skeletal muscle fiber (CL0008002)
    Fold Change: -0.2280
    Cell Significance Index: -5.8600
  • Cell Name: GABAergic amacrine cell (CL4030027)
    Fold Change: -0.2298
    Cell Significance Index: -2.8500
  • Cell Name: hippocampal pyramidal neuron (CL1001571)
    Fold Change: -0.2379
    Cell Significance Index: -6.7900
  • Cell Name: intestinal tuft cell (CL0019032)
    Fold Change: -0.2416
    Cell Significance Index: -14.8100
  • Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
    Fold Change: -0.2674
    Cell Significance Index: -3.8300
  • Cell Name: neutrophil progenitor cell (CL0000834)
    Fold Change: -0.2843
    Cell Significance Index: -7.6100
  • Cell Name: skeletal muscle fibroblast (CL0011027)
    Fold Change: -0.3188
    Cell Significance Index: -2.1600
  • Cell Name: Sertoli cell (CL0000216)
    Fold Change: -0.3265
    Cell Significance Index: -4.5800
  • Cell Name: kidney epithelial cell (CL0002518)
    Fold Change: -0.3429
    Cell Significance Index: -10.1000
  • Cell Name: retinal rod cell (CL0000604)
    Fold Change: -0.3683
    Cell Significance Index: -4.3900
  • Cell Name: CD4-positive, alpha-beta memory T cell, CD45RO-positive (CL0001204)
    Fold Change: -0.3735
    Cell Significance Index: -10.9700
  • Cell Name: pro-T cell (CL0000827)
    Fold Change: -0.3805
    Cell Significance Index: -9.7200

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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.

Cell ID: Standard Cell Ontology term used for mapping and comparing cells across experiments. Ensures consistency in analyzing cellular functions across tissues.
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

**Key Characteristics:** FZR1 is a protein that belongs to the CDC20-like protein family. It is a negative regulator of the APC, which is a crucial component of the cell cycle machinery. FZR1 interacts with the APC and inhibits its activity, thereby preventing premature entry into mitosis. It also regulates the expression of other cell cycle proteins, such as CDH1 and CDK2. FZR1 is highly expressed in cells that undergo rapid proliferation, such as hematopoietic cells and immune cells. **Pathways and Functions:** FZR1 regulates several key pathways, including: 1. **Cell Cycle Regulation:** FZR1 inhibits the APC, which prevents premature entry into mitosis and ensures proper progression through the cell cycle. 2. **Antigen Processing and Presentation:** FZR1 regulates the expression of MHC class I molecules and the processing of antigens for presentation to T cells. 3. **Adaptive Immune Response:** FZR1 is highly expressed in immune cells, including T cells and dendritic cells, and plays a critical role in the regulation of the adaptive immune response. 4. **Mitotic Exit:** FZR1 regulates the transition from mitosis to the G1 phase, ensuring proper completion of the cell cycle. **Clinical Significance:** Dysregulation of FZR1 has been implicated in various diseases, including: 1. **Cancer:** FZR1 is often downregulated in cancer cells, leading to premature entry into mitosis and increased proliferation. 2. **Autoimmune Disorders:** FZR1 is highly expressed in immune cells and plays a critical role in the regulation of the adaptive immune response. Dysregulation of FZR1 may contribute to autoimmune disorders, such as rheumatoid arthritis and lupus. 3. **Hematological Disorders:** FZR1 is highly expressed in hematopoietic cells and plays a critical role in the regulation of blood cell development and function. Dysregulation of FZR1 may contribute to hematological disorders, such as leukemia and lymphoma. In conclusion, FZR1 is a critical regulator of the cell cycle and immune response. Its dysregulation has been implicated in various diseases, including cancer, autoimmune disorders, and hematological disorders. Further research is needed to fully understand the role of FZR1 in human disease and to develop therapeutic strategies to target this gene.

Genular Protein ID: 519105817

Symbol: FZR1_HUMAN

Name: CDC20-like protein 1

UniProtKB Accession Codes:

Q9UM11 O75869 Q86U66 Q96NW8 Q9UI96 Q9ULH8 Q9UM10 Q9UNQ1 Q9Y2T8

Database IDs:

AGR 1 AlphaFoldDB 1 Antibodypedia 1 Bgee 1 BioGRID 1 BioGRID-ORCS 1 BioMuta 1 CCDS 3 CDD 1 CTD 1 ChEMBL 1 ChiTaRS 1 ComplexPortal 1 DIP 1 DMDM 1 DNASU 1 DisGeNET 1 DisProt 1 ELM 1 EMBL 12 EMDB 5 Ensembl 4 EvolutionaryTrace 1 ExpressionAtlas 1 GO 21 Gene3D 1 GeneCards 1 GeneTree 1 GeneWiki 1 GenomeRNAi 1 GlyGen 1 HGNC 1 HOGENOM 1 HPA 1 InParanoid 1 IntAct 1 InterPro 6 KEGG 1 MANE-Select 1 MIM 3 MINT 1 MalaCards 1 MassIVE 1 NCBI Taxonomy 1 OMA 1 OpenTargets 1 Orphanet 1 OrthoDB 1 PANTHER 2 PDB 7 PDBsum 7 PRO 1 PROSITE 3 PathwayCommons 1 PaxDb 1 PeptideAtlas 1 Pfam 2 PharmGKB 1 Pharos 1 PhosphoSitePlus 1 PhylomeDB 1 Proteomes 1 ProteomicsDB 3 Pumba 1 RNAct 1 Reactome 13 RefSeq 4 SIGNOR 1 SMART 1 SMR 1 STRING 1 SUPFAM 1 SignaLink 1 TreeFam 1 UCSC 1 UniPathway 1 VEuPathDB 1 eggNOG 1 iPTMnet 1 jPOST 1 neXtProt 1

Citations:

PubMed ID: 9811605

Title: Activation of the human anaphase-promoting complex by proteins of the CDC20/Fizzy family.

PubMed ID: 9811605

DOI: 10.1016/s0960-9822(07)00510-6

PubMed ID: 12797865

Title: Differential expression, localization and activity of two alternatively spliced isoforms of human APC regulator CDH1.

PubMed ID: 12797865

DOI: 10.1042/bj20030600

PubMed ID: 10574462

Title: Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.

PubMed ID: 10574462

DOI: 10.1093/dnares/6.5.337

PubMed ID: 15057824

Title: The DNA sequence and biology of human chromosome 19.

PubMed ID: 15057824

DOI: 10.1038/nature02399

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: 9734353

Title: Direct binding of CDC20 protein family members activates the anaphase-promoting complex in mitosis and G1.

PubMed ID: 9734353

DOI: 10.1016/s1097-2765(00)80126-4

PubMed ID: 10459014

Title: Regulation of APC activity by phosphorylation and regulatory factors.

PubMed ID: 10459014

DOI: 10.1083/jcb.146.4.791

PubMed ID: 15824138

Title:

PubMed ID: 15824138

DOI: 10.1083/jcb.199901060032505r

PubMed ID: 11459825

Title: Inhibition of Cdh1-APC by the MAD2-related protein MAD2L2: a novel mechanism for regulating Cdh1.

PubMed ID: 11459825

DOI: 10.1101/gad.897901

PubMed ID: 11459826

Title: MAD2B is an inhibitor of the anaphase-promoting complex.

PubMed ID: 11459826

DOI: 10.1101/gad.898701

PubMed ID: 14701726

Title: Mitotic degradation of human thymidine kinase 1 is dependent on the anaphase-promoting complex/cyclosome-CDH1-mediated pathway.

PubMed ID: 14701726

DOI: 10.1128/mcb.24.2.514-526.2004

PubMed ID: 17403670

Title: Cell cycle-dependent expression of centrosomal ninein-like protein in human cells is regulated by the anaphase-promoting complex.

PubMed ID: 17403670

DOI: 10.1074/jbc.m701350200

PubMed ID: 18662541

Title: The Cdc14B-Cdh1-Plk1 axis controls the G2 DNA-damage-response checkpoint.

PubMed ID: 18662541

DOI: 10.1016/j.cell.2008.05.043

PubMed ID: 18669648

Title: A quantitative atlas of mitotic phosphorylation.

PubMed ID: 18669648

DOI: 10.1073/pnas.0805139105

PubMed ID: 19690332

Title: Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.

PubMed ID: 19690332

DOI: 10.1126/scisignal.2000007

PubMed ID: 20068231

Title: Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

PubMed ID: 20068231

DOI: 10.1126/scisignal.2000475

PubMed ID: 21596315

Title: Deubiquitinase USP37 is activated by CDK2 to antagonize APC(CDH1) and promote S phase entry.

PubMed ID: 21596315

DOI: 10.1016/j.molcel.2011.03.027

PubMed ID: 22014574

Title: SIRT2 maintains genome integrity and suppresses tumorigenesis through regulating APC/C activity.

PubMed ID: 22014574

DOI: 10.1016/j.ccr.2011.09.004

PubMed ID: 21986944

Title: Male germ cell-associated kinase is overexpressed in prostate cancer cells and causes mitotic defects via deregulation of APC/C(CDH1).

PubMed ID: 21986944

DOI: 10.1038/onc.2011.464

PubMed ID: 24163370

Title: The HECT type ubiquitin ligase NEDL2 is degraded by anaphase-promoting complex/cyclosome (APC/C)-Cdh1, and its tight regulation maintains the metaphase to anaphase transition.

PubMed ID: 24163370

DOI: 10.1074/jbc.m113.472076

PubMed ID: 23186163

Title: Toward a comprehensive characterization of a human cancer cell phosphoproteome.

PubMed ID: 23186163

DOI: 10.1021/pr300630k

PubMed ID: 25349192

Title: APC/C(Cdh1) controls CtIP stability during the cell cycle and in response to DNA damage.

PubMed ID: 25349192

DOI: 10.15252/embj.201489017

PubMed ID: 27653696

Title: APC/C and SCF(cyclin F) Constitute a Reciprocal Feedback Circuit Controlling S-Phase Entry.

PubMed ID: 27653696

DOI: 10.1016/j.celrep.2016.08.058

PubMed ID: 26818844

Title: SCF(Cyclin F)-dependent degradation of CDC6 suppresses DNA re-replication.

PubMed ID: 26818844

DOI: 10.1038/ncomms10530

PubMed ID: 31722219

Title: CCDC84 Acetylation Oscillation Regulates Centrosome Duplication by Modulating HsSAS-6 Degradation.

PubMed ID: 31722219

DOI: 10.1016/j.celrep.2019.10.028

PubMed ID: 26083744

Title: Atomic structure of the APC/C and its mechanism of protein ubiquitination.

PubMed ID: 26083744

DOI: 10.1038/nature14471

PubMed ID: 31318984

Title: A novel human Cdh1 mutation impairs anaphase promoting complex/cyclosome activity resulting in microcephaly, psychomotor retardation, and epilepsy.

PubMed ID: 31318984

DOI: 10.1111/jnc.14828

PubMed ID: 34788397

Title: De novo FZR1 loss-of-function variants cause developmental and epileptic encephalopathies.

PubMed ID: 34788397

DOI: 10.1093/brain/awab409

Sequence Information:

  • Length: 496
  • Mass: 55179
  • Checksum: F6C8FDAF81D8103A
  • Sequence:
    • MDQDYERRLL RQIVIQNENT MPRVTEMRRT LTPASSPVSS PSKHGDRFIP SRAGANWSVN 
FHRINENEKS PSQNRKAKDA TSDNGKDGLA YSALLKNELL GAGIEKVQDP QTEDRRLQPS 
TPEKKGLFTY SLSTKRSSPD DGNDVSPYSL SPVSNKSQKL LRSPRKPTRK ISKIPFKVLD 
APELQDDFYL NLVDWSSLNV LSVGLGTCVY LWSACTSQVT RLCDLSVEGD SVTSVGWSER 
GNLVAVGTHK GFVQIWDAAA GKKLSMLEGH TARVGALAWN AEQLSSGSRD RMILQRDIRT 
PPLQSERRLQ GHRQEVCGLK WSTDHQLLAS GGNDNKLLVW NHSSLSPVQQ YTEHLAAVKA 
IAWSPHQHGL LASGGGTADR CIRFWNTLTG QPLQCIDTGS QVCNLAWSKH ANELVSTHGY 
SQNQILVWKY PSLTQVAKLT GHSYRVLYLA MSPDGEAIVT GAGDETLRFW NVFSKTRSTK 
VKWESVSVLN LFTRIR

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.