Details for: NEFL
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: peripheral nervous system neuron (CL2000032)
Fold Change: 11.3064
Cell Significance Index: 87.8700 - Cell Name: glycinergic neuron (CL1001509)
Fold Change: 6.1396
Cell Significance Index: 322.3500 - Cell Name: enterocyte of epithelium of small intestine (CL1000334)
Fold Change: 4.0910
Cell Significance Index: 117.8700 - Cell Name: oral mucosa squamous cell (CL1001576)
Fold Change: 3.2794
Cell Significance Index: 28.1800 - Cell Name: intestinal tuft cell (CL0019032)
Fold Change: 2.9573
Cell Significance Index: 181.3100 - Cell Name: epithelial cell of esophagus (CL0002252)
Fold Change: 2.0473
Cell Significance Index: 13.5900 - Cell Name: hippocampal pyramidal neuron (CL1001571)
Fold Change: 1.9424
Cell Significance Index: 55.4300 - Cell Name: L2/3-6 intratelencephalic projecting glutamatergic neuron (CL4023040)
Fold Change: 1.5182
Cell Significance Index: 304.5400 - Cell Name: mammary gland epithelial cell (CL0002327)
Fold Change: 1.0773
Cell Significance Index: 4.9600 - Cell Name: BEST4+ enteroycte (CL4030026)
Fold Change: 0.6540
Cell Significance Index: 9.8600 - Cell Name: cone retinal bipolar cell (CL0000752)
Fold Change: 0.5786
Cell Significance Index: 4.4600 - Cell Name: OFF midget ganglion cell (CL4033047)
Fold Change: 0.5586
Cell Significance Index: 6.9700 - Cell Name: hippocampal granule cell (CL0001033)
Fold Change: 0.5390
Cell Significance Index: 36.2400 - Cell Name: colon goblet cell (CL0009039)
Fold Change: 0.5117
Cell Significance Index: 50.6200 - Cell Name: enteroendocrine cell of colon (CL0009042)
Fold Change: 0.4890
Cell Significance Index: 93.0500 - Cell Name: tuft cell of colon (CL0009041)
Fold Change: 0.4584
Cell Significance Index: 413.8900 - Cell Name: abnormal cell (CL0001061)
Fold Change: 0.4540
Cell Significance Index: 46.3800 - Cell Name: obsolete caudal ganglionic eminence derived GABAergic cortical interneuron (CL4023070)
Fold Change: 0.3336
Cell Significance Index: 119.6600 - Cell Name: forebrain neuroblast (CL1000042)
Fold Change: 0.2383
Cell Significance Index: 14.6500 - Cell Name: GABAergic amacrine cell (CL4030027)
Fold Change: 0.2137
Cell Significance Index: 2.6500 - Cell Name: epithelial cell of small intestine (CL0002254)
Fold Change: 0.2104
Cell Significance Index: 34.2300 - Cell Name: midget ganglion cell of retina (CL4023188)
Fold Change: 0.1392
Cell Significance Index: 1.4500 - Cell Name: intestinal crypt stem cell of colon (CL0009043)
Fold Change: 0.1167
Cell Significance Index: 12.6900 - Cell Name: enteric neuron (CL0007011)
Fold Change: 0.0967
Cell Significance Index: 0.7000 - Cell Name: ON midget ganglion cell (CL4033046)
Fold Change: 0.0792
Cell Significance Index: 1.0000 - Cell Name: fallopian tube secretory epithelial cell (CL4030006)
Fold Change: 0.0136
Cell Significance Index: 0.2100 - Cell Name: kidney loop of Henle cortical thick ascending limb epithelial cell (CL1001109)
Fold Change: 0.0083
Cell Significance Index: 6.0800 - Cell Name: pigmented epithelial cell (CL0000529)
Fold Change: -0.0157
Cell Significance Index: -29.4900 - Cell Name: anterior lens cell (CL0002223)
Fold Change: -0.0191
Cell Significance Index: -35.1600 - Cell Name: small intestine goblet cell (CL1000495)
Fold Change: -0.0194
Cell Significance Index: -0.6800 - Cell Name: lens epithelial cell (CL0002224)
Fold Change: -0.0229
Cell Significance Index: -35.2300 - Cell Name: pancreatic A cell (CL0000171)
Fold Change: -0.0392
Cell Significance Index: -29.0500 - Cell Name: pulmonary alveolar epithelial cell (CL0000322)
Fold Change: -0.0404
Cell Significance Index: -30.5800 - Cell Name: eukaryotic cell (CL0000255)
Fold Change: -0.0559
Cell Significance Index: -2.4300 - Cell Name: type B pancreatic cell (CL0000169)
Fold Change: -0.0566
Cell Significance Index: -31.9300 - Cell Name: pancreatic PP cell (CL0002275)
Fold Change: -0.0569
Cell Significance Index: -35.5300 - Cell Name: ciliary muscle cell (CL1000443)
Fold Change: -0.0697
Cell Significance Index: -31.6400 - Cell Name: enteroendocrine cell of small intestine (CL0009006)
Fold Change: -0.0720
Cell Significance Index: -1.8000 - Cell Name: hair follicular keratinocyte (CL2000092)
Fold Change: -0.0775
Cell Significance Index: -34.2700 - Cell Name: L6 intratelencephalic projecting glutamatergic neuron of the primary motor cortex (CL4023050)
Fold Change: -0.0795
Cell Significance Index: -1.0600 - Cell Name: enterocyte of epithelium of large intestine (CL0002071)
Fold Change: -0.0980
Cell Significance Index: -4.4400 - Cell Name: dopaminergic neuron (CL0000700)
Fold Change: -0.1043
Cell Significance Index: -30.0100 - Cell Name: indirect pathway medium spiny neuron (CL4023029)
Fold Change: -0.1090
Cell Significance Index: -4.8200 - Cell Name: gut absorptive cell (CL0000677)
Fold Change: -0.1299
Cell Significance Index: -7.8000 - Cell Name: microfold cell of epithelium of small intestine (CL1000353)
Fold Change: -0.1301
Cell Significance Index: -9.0000 - Cell Name: epithelial cell of stomach (CL0002178)
Fold Change: -0.1367
Cell Significance Index: -15.9300 - Cell Name: intermediate cell of urothelium (CL4030055)
Fold Change: -0.1423
Cell Significance Index: -25.6600 - Cell Name: pancreatic D cell (CL0000173)
Fold Change: -0.1512
Cell Significance Index: -31.8500 - Cell Name: neoplastic cell (CL0001063)
Fold Change: -0.1536
Cell Significance Index: -30.4900 - Cell Name: eye photoreceptor cell (CL0000287)
Fold Change: -0.1558
Cell Significance Index: -9.8200 - Cell Name: leptomeningeal cell (CL0000708)
Fold Change: -0.1665
Cell Significance Index: -3.5600 - Cell Name: pigmented ciliary epithelial cell (CL0002303)
Fold Change: -0.1791
Cell Significance Index: -26.0400 - Cell Name: pvalb GABAergic cortical interneuron (CL4023018)
Fold Change: -0.2059
Cell Significance Index: -4.3700 - Cell Name: direct pathway medium spiny neuron (CL4023026)
Fold Change: -0.2123
Cell Significance Index: -8.0400 - Cell Name: pancreatic acinar cell (CL0002064)
Fold Change: -0.2177
Cell Significance Index: -37.1800 - Cell Name: basal cell of urothelium (CL1000486)
Fold Change: -0.2210
Cell Significance Index: -27.1800 - Cell Name: stratified epithelial cell (CL0000079)
Fold Change: -0.2223
Cell Significance Index: -8.1600 - Cell Name: pancreatic ductal cell (CL0002079)
Fold Change: -0.2322
Cell Significance Index: -26.6000 - Cell Name: kidney loop of Henle descending limb epithelial cell (CL1001021)
Fold Change: -0.2336
Cell Significance Index: -18.5000 - Cell Name: stromal cell of ovary (CL0002132)
Fold Change: -0.2649
Cell Significance Index: -36.3800 - Cell Name: cortical interneuron (CL0008031)
Fold Change: -0.2815
Cell Significance Index: -6.7500 - Cell Name: retinal progenitor cell (CL0002672)
Fold Change: -0.2825
Cell Significance Index: -15.8500 - Cell Name: retinal ganglion cell (CL0000740)
Fold Change: -0.3065
Cell Significance Index: -2.5300 - Cell Name: transit amplifying cell of colon (CL0009011)
Fold Change: -0.3082
Cell Significance Index: -9.8700 - Cell Name: odontoblast (CL0000060)
Fold Change: -0.3097
Cell Significance Index: -39.7000 - Cell Name: corticothalamic-projecting glutamatergic cortical neuron (CL4023013)
Fold Change: -0.3313
Cell Significance Index: -10.5500 - Cell Name: transit amplifying cell of small intestine (CL0009012)
Fold Change: -0.3818
Cell Significance Index: -7.9200 - Cell Name: glutamatergic neuron (CL0000679)
Fold Change: -0.4204
Cell Significance Index: -4.5800 - Cell Name: L6b glutamatergic cortical neuron (CL4023038)
Fold Change: -0.4539
Cell Significance Index: -14.8600 - Cell Name: neuron (CL0000540)
Fold Change: -0.4600
Cell Significance Index: -4.3600 - Cell Name: paneth cell of epithelium of small intestine (CL1000343)
Fold Change: -0.5234
Cell Significance Index: -11.3400 - Cell Name: basal epithelial cell of tracheobronchial tree (CL0002329)
Fold Change: -0.5237
Cell Significance Index: -14.6400 - Cell Name: L5 extratelencephalic projecting glutamatergic cortical neuron (CL4023041)
Fold Change: -0.5358
Cell Significance Index: -18.7700 - Cell Name: neural cell (CL0002319)
Fold Change: -0.5426
Cell Significance Index: -6.3300 - Cell Name: intestinal crypt stem cell of small intestine (CL0009017)
Fold Change: -0.5787
Cell Significance Index: -12.3300 - Cell Name: kidney epithelial cell (CL0002518)
Fold Change: -0.6091
Cell Significance Index: -17.9400 - Cell Name: near-projecting glutamatergic cortical neuron (CL4023012)
Fold Change: -0.6851
Cell Significance Index: -17.0900 - Cell Name: sst GABAergic cortical interneuron (CL4023017)
Fold Change: -0.6883
Cell Significance Index: -13.6100 - Cell Name: keratinocyte (CL0000312)
Fold Change: -0.7183
Cell Significance Index: -17.9400 - Cell Name: bladder urothelial cell (CL1001428)
Fold Change: -0.7194
Cell Significance Index: -37.3700 - Cell Name: VIP GABAergic cortical interneuron (CL4023016)
Fold Change: -0.7484
Cell Significance Index: -15.0300 - Cell Name: mesonephric nephron tubule epithelial cell (CL1000022)
Fold Change: -0.7614
Cell Significance Index: -26.4600 - Cell Name: luminal adaptive secretory precursor cell of mammary gland (CL4033057)
Fold Change: -0.7681
Cell Significance Index: -36.1000 - Cell Name: chandelier pvalb GABAergic cortical interneuron (CL4023036)
Fold Change: -0.8361
Cell Significance Index: -17.4500 - Cell Name: acinar cell of salivary gland (CL0002623)
Fold Change: -0.8571
Cell Significance Index: -39.9600 - Cell Name: CD14-low, CD16-positive monocyte (CL0002396)
Fold Change: -0.8713
Cell Significance Index: -21.1100 - Cell Name: cerebellar granule cell (CL0001031)
Fold Change: -0.9004
Cell Significance Index: -15.4300 - Cell Name: epithelial cell of nephron (CL1000449)
Fold Change: -0.9177
Cell Significance Index: -7.8000 - Cell Name: lamp5 GABAergic cortical interneuron (CL4023011)
Fold Change: -0.9451
Cell Significance Index: -20.4200 - Cell Name: granulosa cell (CL0000501)
Fold Change: -1.0086
Cell Significance Index: -26.5200 - Cell Name: retinal rod cell (CL0000604)
Fold Change: -1.0142
Cell Significance Index: -12.0900 - Cell Name: neutrophil progenitor cell (CL0000834)
Fold Change: -1.0611
Cell Significance Index: -28.3900 - Cell Name: L6 corticothalamic-projecting glutamatergic cortical neuron (CL4023042)
Fold Change: -1.1103
Cell Significance Index: -12.2500 - Cell Name: fibroblast of mammary gland (CL0002555)
Fold Change: -1.1209
Cell Significance Index: -32.1300 - Cell Name: L2/3 intratelencephalic projecting glutamatergic neuron (CL4030059)
Fold Change: -1.1268
Cell Significance Index: -15.0200 - Cell Name: Purkinje cell (CL0000121)
Fold Change: -1.1397
Cell Significance Index: -24.9600 - Cell Name: mesenchymal cell (CL0008019)
Fold Change: -1.1616
Cell Significance Index: -19.4400 - Cell Name: cerebral cortex endothelial cell (CL1001602)
Fold Change: -1.2041
Cell Significance Index: -24.5000 - Cell Name: placental villous trophoblast (CL2000060)
Fold Change: -1.2112
Cell Significance Index: -32.3400 - Cell Name: astrocyte of the cerebral cortex (CL0002605)
Fold Change: -1.2388
Cell Significance Index: -21.4200
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: 634453184
Symbol: NFL_HUMAN
Name: Neurofilament light polypeptide
UniProtKB Accession Codes:
Database IDs:
Citations:
PubMed ID: 3034332
Title: The structure of a human neurofilament gene (NF-L): a unique exon-intron organization in the intermediate filament gene family.
PubMed ID: 3034332
PubMed ID: 12432080
Title: Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation.
PubMed ID: 12432080
DOI: 10.1242/jcs.00148
PubMed ID: 16421571
Title: DNA sequence and analysis of human chromosome 8.
PubMed ID: 16421571
DOI: 10.1038/nature04406
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: 8180132
Title: AP-1 and Krox-24 transcription factors activate the neurofilament light gene promoter in P19 embryonal carcinoma cells.
PubMed ID: 8180132
PubMed ID: 6135695
Title: Highly acidic proteins from human brain: purification and properties of Glu-50 protein.
PubMed ID: 6135695
DOI: 10.1093/jb/93.3.825
PubMed ID: 8621664
Title: PKN associates and phosphorylates the head-rod domain of neurofilament protein.
PubMed ID: 8621664
PubMed ID: 21269460
Title: Initial characterization of the human central proteome.
PubMed ID: 21269460
PubMed ID: 22223895
Title: Comparative large-scale characterisation of plant vs. mammal proteins reveals similar and idiosyncratic N-alpha acetylation features.
PubMed ID: 22223895
PubMed ID: 10841809
Title: A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene.
PubMed ID: 10841809
DOI: 10.1086/302962
PubMed ID: 11220745
Title: Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.
PubMed ID: 11220745
DOI: 10.1002/1531-8249(20010201)49:2<245::aid-ana45>3.0.co;2-a
PubMed ID: 12481988
Title: A novel NF-L mutation Pro22Ser is associated with CMT2 in a large Slovenian family.
PubMed ID: 12481988
PubMed ID: 12566280
Title: Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.
PubMed ID: 12566280
DOI: 10.1093/brain/awg059
PubMed ID: 15241803
Title: Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
PubMed ID: 15241803
DOI: 10.1002/humu.9261
PubMed ID: 14733962
Title: The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot-Marie-Tooth neuropathy.
PubMed ID: 14733962
PubMed ID: 17052987
Title: Charcot-Marie-Tooth disease type 2E, a disorder of the cytoskeleton.
PubMed ID: 17052987
DOI: 10.1093/brain/awl284
PubMed ID: 22206013
Title: The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.
PubMed ID: 22206013
PubMed ID: 25877835
Title: NEFL E396K mutation is associated with a novel dominant intermediate Charcot-Marie-Tooth disease phenotype.
PubMed ID: 25877835
PubMed ID: 25802885
Title: Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
PubMed ID: 25802885
DOI: 10.1002/mgg3.126
PubMed ID: 26645395
Title: NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.
PubMed ID: 26645395
Sequence Information:
- Length: 543
- Mass: 61517
- Checksum: 98C1712D8ACFF33A
- Sequence:
MSSFSYEPYY STSYKRRYVE TPRVHISSVR SGYSTARSAY SSYSAPVSSS LSVRRSYSSS SGSLMPSLEN LDLSQVAAIS NDLKSIRTQE KAQLQDLNDR FASFIERVHE LEQQNKVLEA ELLVLRQKHS EPSRFRALYE QEIRDLRLAA EDATNEKQAL QGEREGLEET LRNLQARYEE EVLSREDAEG RLMEARKGAD EAALARAELE KRIDSLMDEI SFLKKVHEEE IAELQAQIQY AQISVEMDVT KPDLSAALKD IRAQYEKLAA KNMQNAEEWF KSRFTVLTES AAKNTDAVRA AKDEVSESRR LLKAKTLEIE ACRGMNEALE KQLQELEDKQ NADISAMQDT INKLENELRT TKSEMARYLK EYQDLLNVKM ALDIEIAAYR KLLEGEETRL SFTSVGSITS GYSQSSQVFG RSAYGGLQTS SYLMSTRSFP SYYTSHVQEE QIEVEETIEA AKAEEAKDEP PSEGEAEEEE KDKEEAEEEE AAEEEEAAKE ESEEAKEEEE GGEGEEGEET KEAEEEEKKV EGAGEEQAAK KKD
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.