Details for: NPHS1
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: kidney cell (CL1000497)
Fold Change: 2.6064
Cell Significance Index: 20.8100 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: 0.7904
Cell Significance Index: 25.3200 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: 0.5891
Cell Significance Index: 14.2700 - Cell Name: Purkinje cell (CL0000121)
Fold Change: 0.2701
Cell Significance Index: 5.9200 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: 0.2375
Cell Significance Index: 4.0700 - Cell Name: cortical thymic epithelial cell (CL0002364)
Fold Change: 0.2249
Cell Significance Index: 1.8600 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.1917
Cell Significance Index: 31.1800 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: 0.1777
Cell Significance Index: 9.9700 - Cell Name: epithelial cell of uterus (CL0002149)
Fold Change: 0.1744
Cell Significance Index: 2.4200 - Cell Name: retinal blood vessel endothelial cell (CL0002585)
Fold Change: 0.1707
Cell Significance Index: 2.2100 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: 0.1408
Cell Significance Index: 8.4600 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.1088
Cell Significance Index: 10.7700 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: 0.1080
Cell Significance Index: 2.2400 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: 0.1038
Cell Significance Index: 4.5900 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: 0.0919
Cell Significance Index: 3.4800 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: 0.0772
Cell Significance Index: 1.6500 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.0764
Cell Significance Index: 14.5400 - Cell Name: granulosa cell (CL0000501)
Fold Change: 0.0753
Cell Significance Index: 1.9800 - Cell Name: photoreceptor cell (CL0000210)
Fold Change: 0.0712
Cell Significance Index: 1.0000 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: 0.0613
Cell Significance Index: 2.7800 - Cell Name: retinal bipolar neuron (CL0000748)
Fold Change: 0.0594
Cell Significance Index: 0.7200 - Cell Name: neoplastic cell (CL0001063)
Fold Change: 0.0505
Cell Significance Index: 10.0300 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: 0.0493
Cell Significance Index: 8.4100 - Cell Name: conjunctival epithelial cell (CL1000432)
Fold Change: 0.0447
Cell Significance Index: 0.6100 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 0.0400
Cell Significance Index: 8.0200 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.0387
Cell Significance Index: 4.2100 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: 0.0373
Cell Significance Index: 6.7200 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: 0.0358
Cell Significance Index: 1.6700 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: 0.0328
Cell Significance Index: 0.7100 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: 0.0325
Cell Significance Index: 1.1300 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.0306
Cell Significance Index: 10.9800 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.0156
Cell Significance Index: 1.0500 - Cell Name: podocyte (CL0000653)
Fold Change: 0.0048
Cell Significance Index: 0.0500 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 0.0028
Cell Significance Index: 0.0800 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: 0.0027
Cell Significance Index: 4.1900 - Cell Name: anterior lens cell (CL0002223)
Fold Change: 0.0018
Cell Significance Index: 3.2300 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: 0.0009
Cell Significance Index: 1.7700 - Cell Name: secondary lens fiber (CL0002225)
Fold Change: -0.0003
Cell Significance Index: -0.3400 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.0004
Cell Significance Index: -0.0600 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0004
Cell Significance Index: -0.3300 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0017
Cell Significance Index: -0.9700 - Cell Name: non-pigmented ciliary epithelial cell (CL0002304)
Fold Change: -0.0037
Cell Significance Index: -2.3400 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.0050
Cell Significance Index: -0.3500 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0051
Cell Significance Index: -3.8700 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: -0.0057
Cell Significance Index: -4.2100 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.0057
Cell Significance Index: -1.6500 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0058
Cell Significance Index: -2.6200 - Cell Name: cell in vitro (CL0001034)
Fold Change: -0.0062
Cell Significance Index: -3.4000 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0063
Cell Significance Index: -3.9200 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.0094
Cell Significance Index: -1.1500 - Cell Name: medial ganglionic eminence derived interneuron (CL4023063)
Fold Change: -0.0098
Cell Significance Index: -0.1400 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: -0.0101
Cell Significance Index: -0.6200 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.0103
Cell Significance Index: -1.3200 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0108
Cell Significance Index: -0.2700 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.0135
Cell Significance Index: -2.8500 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.0181
Cell Significance Index: -2.1100 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.0185
Cell Significance Index: -2.1200 - Cell Name: glandular epithelial cell (CL0000150)
Fold Change: -0.0226
Cell Significance Index: -0.1800 - Cell Name: diffuse bipolar 2 cell (CL4033028)
Fold Change: -0.0228
Cell Significance Index: -0.2800 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.0234
Cell Significance Index: -3.2100 - Cell Name: invaginating midget bipolar cell (CL4033034)
Fold Change: -0.0235
Cell Significance Index: -0.2900 - Cell Name: mesothelial cell of epicardium (CL0011019)
Fold Change: -0.0243
Cell Significance Index: -0.2100 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: -0.0265
Cell Significance Index: -0.4000 - Cell Name: abnormal cell (CL0001061)
Fold Change: -0.0281
Cell Significance Index: -2.8700 - Cell Name: lactocyte (CL0002325)
Fold Change: -0.0290
Cell Significance Index: -3.7500 - Cell Name: keratocyte (CL0002363)
Fold Change: -0.0303
Cell Significance Index: -0.4800 - Cell Name: tonsil germinal center B cell (CL2000006)
Fold Change: -0.0360
Cell Significance Index: -4.2400 - Cell Name: smooth muscle cell of sphincter of pupil (CL0002243)
Fold Change: -0.0360
Cell Significance Index: -3.7500 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.0393
Cell Significance Index: -2.0400 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.0452
Cell Significance Index: -2.8500 - Cell Name: flat midget bipolar cell (CL4033033)
Fold Change: -0.0459
Cell Significance Index: -0.5700 - Cell Name: cardiac muscle myoblast (CL0000513)
Fold Change: -0.0481
Cell Significance Index: -3.6900 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.0494
Cell Significance Index: -2.3200 - Cell Name: megakaryocyte-erythroid progenitor cell (CL0000050)
Fold Change: -0.0510
Cell Significance Index: -0.7000 - Cell Name: progenitor cell of mammary luminal epithelium (CL0009116)
Fold Change: -0.0515
Cell Significance Index: -3.8400 - Cell Name: acinar cell (CL0000622)
Fold Change: -0.0517
Cell Significance Index: -0.6500 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.0537
Cell Significance Index: -4.2500 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: -0.0543
Cell Significance Index: -1.5500 - Cell Name: lens fiber cell (CL0011004)
Fold Change: -0.0544
Cell Significance Index: -1.7200 - Cell Name: early T lineage precursor (CL0002425)
Fold Change: -0.0599
Cell Significance Index: -0.8700 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0623
Cell Significance Index: -2.7100 - Cell Name: early pro-B cell (CL0002046)
Fold Change: -0.0623
Cell Significance Index: -4.0200 - Cell Name: diffuse bipolar 4 cell (CL4033031)
Fold Change: -0.0649
Cell Significance Index: -0.7900 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: -0.0667
Cell Significance Index: -3.5000 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.0673
Cell Significance Index: -1.8800 - Cell Name: preadipocyte (CL0002334)
Fold Change: -0.0681
Cell Significance Index: -1.3300 - Cell Name: radial glial cell (CL0000681)
Fold Change: -0.0691
Cell Significance Index: -0.4100 - Cell Name: diffuse bipolar 3a cell (CL4033029)
Fold Change: -0.0756
Cell Significance Index: -0.9100 - Cell Name: skeletal muscle fiber (CL0008002)
Fold Change: -0.0757
Cell Significance Index: -1.9500 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.0769
Cell Significance Index: -2.4500 - Cell Name: basal cell of epidermis (CL0002187)
Fold Change: -0.0784
Cell Significance Index: -1.1900 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.0794
Cell Significance Index: -2.7800 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0805
Cell Significance Index: -2.8300 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.0864
Cell Significance Index: -2.5500 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.0916
Cell Significance Index: -3.0000 - Cell Name: neuroblast (sensu Vertebrata) (CL0000031)
Fold Change: -0.0922
Cell Significance Index: -0.6000 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -0.0991
Cell Significance Index: -2.6500 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.1026
Cell Significance Index: -2.4600 - Cell Name: epithelial cell of pancreas (CL0000083)
Fold Change: -0.1032
Cell Significance Index: -1.7000 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.1032
Cell Significance Index: -3.7900
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: 2797946999
Symbol: NPHN_HUMAN
Name: Nephrin
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 9660941
Title: Positionally cloned gene for a novel glomerular protein -- nephrin -- is mutated in congenital nephrotic syndrome.
PubMed ID: 9660941
PubMed ID: 19309778
Title: Novel human pathological mutations. Gene symbol: NPHS1. Disease: congenital nephrotic syndrome, Finnish type.
PubMed ID: 19309778
PubMed ID: 15057824
Title: The DNA sequence and biology of human chromosome 19.
PubMed ID: 15057824
DOI: 10.1038/nature02399
PubMed ID: 10550324
Title: Nephrin localizes at the podocyte filtration slit area and is characteristically spliced in the human kidney.
PubMed ID: 10550324
PubMed ID: 10393930
Title: Nephrin is specifically located at the slit diaphragm of glomerular podocytes.
PubMed ID: 10393930
PubMed ID: 11562357
Title: Interaction with podocin facilitates nephrin signaling.
PubMed ID: 11562357
PubMed ID: 18088087
PubMed ID: 28955049
Title: C1-Ten is a PTPase of nephrin, regulating podocyte hypertrophy through mTORC1 activation.
PubMed ID: 28955049
PubMed ID: 9915943
Title: Structure of the gene for congenital nephrotic syndrome of the Finnish type (NPHS1) and characterization of mutations.
PubMed ID: 9915943
DOI: 10.1086/302182
PubMed ID: 10652016
Title: Novel mutation in the nephrin gene of a Japanese patient with congenital nephrotic syndrome of the Finnish type.
PubMed ID: 10652016
PubMed ID: 11726550
Title: Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
PubMed ID: 11726550
PubMed ID: 11317351
Title: Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
PubMed ID: 11317351
DOI: 10.1002/humu.1111
PubMed ID: 17290294
Title: A familial childhood-onset relapsing nephrotic syndrome.
PubMed ID: 17290294
PubMed ID: 18614772
Title: Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
PubMed ID: 18614772
PubMed ID: 18503012
Title: Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
PubMed ID: 18503012
DOI: 10.1093/ndt/gfn271
PubMed ID: 20172850
Title: Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
PubMed ID: 20172850
DOI: 10.1093/ndt/gfq088
PubMed ID: 22009864
Title: Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
PubMed ID: 22009864
PubMed ID: 20798252
Title: Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
PubMed ID: 20798252
DOI: 10.2215/cjn.01190210
PubMed ID: 22732337
Title: Mutations in podocyte genes are a rare cause of primary FSGS associated with ESRD in adult patients.
PubMed ID: 22732337
DOI: 10.5414/cn107320
PubMed ID: 22565185
Title: A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
PubMed ID: 22565185
PubMed ID: 23595123
Title: A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
PubMed ID: 23595123
DOI: 10.1038/jhg.2013.27
PubMed ID: 25804400
Title: SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
PubMed ID: 25804400
DOI: 10.1038/ejhg.2015.46
PubMed ID: 26560236
Title: NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: a novel mutation is described.
PubMed ID: 26560236
DOI: 10.1111/nep.12667
Sequence Information:
- Length: 1241
- Mass: 134742
- Checksum: 7F5AFAF078BCF532
- Sequence:
MALGTTLRAS LLLLGLLTEG LAQLAIPASV PRGFWALPEN LTVVEGASVE LRCGVSTPGS AVQWAKDGLL LGPDPRIPGF PRYRLEGDPA RGEFHLHIEA CDLSDDAEYE CQVGRSEMGP ELVSPRVILS ILVPPKLLLL TPEAGTMVTW VAGQEYVVNC VSGDAKPAPD ITILLSGQTI SDISANVNEG SQQKLFTVEA TARVTPRSSD NRQLLVCEAS SPALEAPIKA SFTVNVLFPP GPPVIEWPGL DEGHVRAGQS LELPCVARGG NPLATLQWLK NGQPVSTAWG TEHTQAVARS VLVMTVRPED HGAQLSCEAH NSVSAGTQEH GITLQVTFPP SAIIILGSAS QTENKNVTLS CVSKSSRPRV LLRWWLGWRQ LLPMEETVMD GLHGGHISMS NLTFLARRED NGLTLTCEAF SEAFTKETFK KSLILNVKYP AQKLWIEGPP EGQKLRAGTR VRLVCLAIGG NPEPSLMWYK DSRTVTESRL PQESRRVHLG SVEKSGSTFS RELVLVTGPS DNQAKFTCKA GQLSASTQLA VQFPPTNVTI LANASALRPG DALNLTCVSV SSNPPVNLSW DKEGERLEGV AAPPRRAPFK GSAAARSVLL QVSSRDHGQR VTCRAHSAEL RETVSSFYRL NVLYRPEFLG EQVLVVTAVE QGEALLPVSV SANPAPEAFN WTFRGYRLSP AGGPRHRILS SGALHLWNVT RADDGLYQLH CQNSEGTAEA RLRLDVHYAP TIRALQDPTE VNVGGSVDIV CTVDANPILP GMFNWERLGE DEEDQSLDDM EKISRGPTGR LRIHHAKLAQ AGAYQCIVDN GVAPPARRLL RLVVRFAPQV EHPTPLTKVA AAGDSTSSAT LHCRARGVPN IVFTWTKNGV PLDLQDPRYT EHTYHQGGVH SSLLTIANVS AAQDYALFTC TATNALGSDQ TNIQLVSISR PDPPSGLKVV SLTPHSVGLE WKPGFDGGLP QRFCIRYEAL GTPGFHYVDV VPPQATTFTL TGLQPSTRYR VWLLASNALG DSGLADKGTQ LPITTPGLHQ PSGEPEDQLP TEPPSGPSGL PLLPVLFALG GLLLLSNASC VGGVLWQRRL RRLAEGISEK TEAGSEEDRV RNEYEESQWT GERDTQSSTV STTEAEPYYR SLRDFSPQLP PTQEEVSYSR GFTGEDEDMA FPGHLYDEVE RTYPPSGAWG PLYDEVQMGP WDLHWPEDTY QDPRGIYDQV AGDLDTLEPD SLPFELRGHL V
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.