NEFM (neurofilament medium chain) - Rat Genome Database

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Gene: NEFM (neurofilament medium chain) Homo sapiens
Analyze
Symbol: NEFM
Name: neurofilament medium chain
RGD ID: 735476
HGNC Page HGNC:7734
Description: Predicted to be a structural constituent of cytoskeleton. Predicted to be involved in neurofilament bundle assembly. Predicted to act upstream of or within axo-dendritic transport; cytoskeleton organization; and regulation of axon diameter. Located in intermediate filament cytoskeleton and neurofibrillary tangle. Implicated in Alzheimer's disease and human immunodeficiency virus infectious disease.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 160 kDa neurofilament protein; NEF3; neurofilament 3; neurofilament 3, medium; neurofilament medium; neurofilament medium polypeptide; neurofilament triplet M protein; neurofilament, medium polypeptide; neurofilament, medium polypeptide 150kDa; neurofilament-3 (150 kD medium); NF-M; NFM
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: NEFMP1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,913,761 - 24,919,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl824,913,758 - 24,919,098 (+)EnsemblGRCh38hg38GRCh38
GRCh37824,771,274 - 24,776,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,827,179 - 24,832,511 (+)NCBINCBI36Build 36hg18NCBI36
Build 34824,827,211 - 24,832,511NCBI
Celera823,734,685 - 23,740,017 (+)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,315,978 - 23,321,310 (+)NCBIHuRef
CHM1_1824,973,582 - 24,978,914 (+)NCBICHM1_1
T2T-CHM13v2.0825,188,914 - 25,194,246 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-anisomycin  (ISO)
(S)-nicotine  (EXP)
1,2-dichloroethane  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,5-hexanedione  (ISO)
2-(3,4-dimethoxyphenyl)-5-\{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino\}-2-(propan-2-yl)pentanenitrile  (ISO)
2-hydroxypropanoic acid  (EXP)
3,3',5-triiodo-L-thyronine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3,5,6-trichloro-2-pyridinol  (ISO)
3,5,6-trichloropyridine-2-one  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-iodotubercidin  (EXP)
6-Cyano-7-nitroquinoxaline-2,3-dione  (ISO)
6-propyl-2-thiouracil  (ISO)
9-cis-retinoic acid  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP,ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP,ISO)
alpha-amanitin  (ISO)
ammonium chloride  (ISO)
amphotericin B  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (EXP)
arsenous acid  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP)
benzylpenicillin  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bucladesine  (EXP)
butanal  (EXP)
cadmium dichloride  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
calyculin a  (ISO)
camptothecin  (EXP)
cannabidiol  (EXP)
carbon disulfide  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
cocaine  (EXP)
cordycepin  (ISO)
Cuprizon  (ISO)
curcumin  (ISO)
cycloheximide  (ISO)
dantrolene  (ISO)
dexamethasone  (ISO)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dieldrin  (ISO)
dioxygen  (ISO)
dizocilpine maleate  (ISO)
dorsomorphin  (EXP)
emetine  (ISO)
entinostat  (EXP)
enzyme inhibitor  (EXP)
ethylene glycol bis(2-aminoethyl)tetraacetic acid  (ISO)
flavonoids  (ISO)
fonofos  (EXP)
FR900359  (EXP)
fulvestrant  (EXP)
iron dichloride  (EXP)
ivermectin  (EXP)
KN-93  (ISO)
lead diacetate  (ISO)
lidocaine  (EXP,ISO)
lipopolysaccharide  (EXP,ISO)
maneb  (ISO)
medroxyprogesterone acetate  (EXP)
mercury dibromide  (EXP)
mercury dichloride  (ISO)
Mesaconitine  (ISO)
methamphetamine  (ISO)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP,ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
nickel atom  (ISO)
nicotine  (EXP)
nifedipine  (ISO)
Nutlin-3  (EXP)
p-chloromercuribenzoic acid  (EXP)
panobinostat  (EXP)
paraquat  (ISO)
parathion  (EXP)
PCB138  (ISO)
pentanal  (EXP)
phenylmercury acetate  (EXP)
progesterone  (EXP)
propanal  (EXP)
puromycin  (ISO)
quercetin  (EXP)
rac-lactic acid  (EXP)
Riluzole  (ISO)
rotenone  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
staurosporine  (ISO)
terbufos  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tributylstannane  (ISO)
trichostatin A  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
U-73122  (ISO)
undecane  (ISO)
valproic acid  (EXP,ISO)
verapamil  (ISO)
vorinostat  (EXP)
zinc sulfate  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Effects of brain ischemia on intermediate filaments of rat hippocampus. Camargo-De-Morais M, etal., Neurochem Res. 1996 May;21(5):595-602.
2. Regulation between O-GlcNAcylation and phosphorylation of neurofilament-M and their dysregulation in Alzheimer disease. Deng Y, etal., FASEB J. 2008 Jan;22(1):138-45. Epub 2007 Aug 8.
3. Regulation of neurofilament gene expression by thyroid hormone in the developing rat brain. Ghosh S, etal., Neuroreport. 1999 Aug 2;10(11):2361-5.
4. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
5. mRNA levels of all three neurofilament proteins decline following nerve transection. Goldstein ME, etal., Brain Res. 1988 Jun;427(3):287-91.
6. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
7. O-glycosylation of the tail domain of neurofilament protein M in human neurons and in spinal cord tissue of a rat model of amyotrophic lateral sclerosis (ALS). Ludemann N, etal., J Biol Chem. 2005 Sep 9;280(36):31648-58. Epub 2005 Jul 8.
8. Impaired Neurofilament Integrity and Neuronal Morphology in Different Models of Focal Cerebral Ischemia and Human Stroke Tissue. Mages B, etal., Front Cell Neurosci. 2018 Jun 18;12:161. doi: 10.3389/fncel.2018.00161. eCollection 2018.
9. Temporal changes in beta-tubulin and neurofilament mRNA levels after transection of adult rat retinal ganglion cell axons in the optic nerve. McKerracher L, etal., J Neurosci. 1993 Jun;13(6):2617-26.
10. Malnutrition induces an increase in intermediate filament protein content of rat cerebral cortex. Paz MM, etal., J Nutr. 1991 Sep;121(9):1349-54. doi: 10.1093/jn/121.9.1349.
11. Insulin deficiency rather than hyperglycemia accounts for impaired neurotrophic responses and nerve fiber regeneration in type 1 diabetic neuropathy. Pierson CR, etal., J Neuropathol Exp Neurol. 2003 Mar;62(3):260-71.
12. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
13. The neurofilament middle molecular mass subunit carboxyl-terminal tail domains is essential for the radial growth and cytoskeletal architecture of axons but not for regulating neurofilament transport rate. Rao MV, etal., J Cell Biol 2003 Dec 8;163(5):1021-31.
14. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
15. Neurotrophin-3 prevents the proximal accumulation of neurofilament proteins in sensory neurons of streptozocin-induced diabetic rats. Sayers NM, etal., Diabetes. 2003 Sep;52(9):2372-80.
16. Thyroid hormones stimulate expression and modification of cytoskeletal protein during rat sciatic nerve regeneration. Schenker M, etal., Brain Res. 2002 Dec 13;957(2):259-70.
17. [Tetramethylpyrazine accelerated spinal cord repair through regulation of caspase-3 and neurofilament protein expression: an acute spinal cord injury model in rats]. Shen ZX, etal., Zhong Nan Da Xue Xue Bao Yi Xue Ban. 2008 Aug;33(8):693-9.
18. Selective solubilization of high-molecular-mass neurofilament subunit during nerve regeneration. Tsuda M, etal., J Neurochem. 2000 Feb;74(2):860-8.
19. Mass spectrometric phosphoproteome analysis of HIV-infected brain reveals novel phosphorylation sites and differential phosphorylation patterns. Uzasci L, etal., Proteomics Clin Appl. 2016 Feb;10(2):126-35. doi: 10.1002/prca.201400134. Epub 2015 Aug 12.
20. Congenital hypothyroidism is associated with intermediate filament misregulation, glutamate transporters down-regulation and MAPK activation in developing rat brain. Zamoner A, etal., Neurotoxicology. 2008 Nov;29(6):1092-9. doi: 10.1016/j.neuro.2008.09.004. Epub 2008 Sep 18.
Additional References at PubMed
PMID:1348579   PMID:1537832   PMID:2450354   PMID:2557834   PMID:3608989   PMID:7790359   PMID:7829101   PMID:8344946   PMID:8620924   PMID:8702840   PMID:10762698   PMID:11563628  
PMID:12122054   PMID:12133495   PMID:12477932   PMID:12963086   PMID:14583397   PMID:14662745   PMID:15032605   PMID:15290901   PMID:15342556   PMID:15822905   PMID:16084104   PMID:16734940  
PMID:17043677   PMID:17498690   PMID:18029348   PMID:19034380   PMID:20195357   PMID:20201926   PMID:20213320   PMID:20381070   PMID:20471030   PMID:20562859   PMID:20624930   PMID:21565611  
PMID:21816823   PMID:21828286   PMID:21873635   PMID:21956116   PMID:22020285   PMID:22586326   PMID:24244333   PMID:24489003   PMID:24636402   PMID:24984263   PMID:25253489   PMID:25609649  
PMID:25959826   PMID:25963833   PMID:26186194   PMID:26460568   PMID:26496610   PMID:27173435   PMID:28225217   PMID:28514442   PMID:28584012   PMID:28634551   PMID:29128334   PMID:29212245  
PMID:29615496   PMID:30021884   PMID:30029677   PMID:30258100   PMID:31180492   PMID:31586073   PMID:32296183   PMID:32450002   PMID:33961781   PMID:34001208   PMID:34079125   PMID:34244482  
PMID:34349018   PMID:34662580   PMID:34709266   PMID:34728620   PMID:35013218   PMID:35235311   PMID:35271311   PMID:35446349   PMID:35575683   PMID:35914814   PMID:36200879   PMID:36634849  
PMID:36898370   PMID:37616343   PMID:38280479   PMID:38697112   PMID:39147351  


Genomics

Comparative Map Data
NEFM
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38824,913,761 - 24,919,093 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl824,913,758 - 24,919,098 (+)EnsemblGRCh38hg38GRCh38
GRCh37824,771,274 - 24,776,606 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 36824,827,179 - 24,832,511 (+)NCBINCBI36Build 36hg18NCBI36
Build 34824,827,211 - 24,832,511NCBI
Celera823,734,685 - 23,740,017 (+)NCBICelera
Cytogenetic Map8p21.2NCBI
HuRef823,315,978 - 23,321,310 (+)NCBIHuRef
CHM1_1824,973,582 - 24,978,914 (+)NCBICHM1_1
T2T-CHM13v2.0825,188,914 - 25,194,246 (+)NCBIT2T-CHM13v2.0
Nefm
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391468,356,994 - 68,362,453 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1468,320,039 - 68,362,295 (-)EnsemblGRCm39 Ensembl
GRCm381468,119,545 - 68,125,004 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1468,082,590 - 68,124,846 (-)EnsemblGRCm38mm10GRCm38
MGSCv371468,737,602 - 68,743,061 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361467,073,367 - 67,078,143 (-)NCBIMGSCv36mm8
Celera1465,887,284 - 65,892,688 (-)NCBICelera
Cytogenetic Map14D1NCBI
cM Map1435.46NCBI
Nefm
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81546,535,857 - 46,541,161 (-)NCBIGRCr8
mRatBN7.21542,360,449 - 42,365,753 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1542,360,454 - 42,365,755 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1544,225,130 - 44,230,434 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01545,375,350 - 45,380,655 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01543,820,704 - 43,826,010 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01544,855,307 - 44,860,604 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1544,855,310 - 44,860,604 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01546,736,787 - 46,741,632 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41547,698,371 - 47,703,350 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11547,714,153 - 47,719,121 (-)NCBI
Celera1542,015,992 - 42,021,311 (-)NCBICelera
Cytogenetic Map15p12NCBI
Nefm
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495540347,920,408 - 47,926,922 (+)NCBIChiLan1.0ChiLan1.0
NEFM
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2743,421,006 - 43,426,459 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1819,155,199 - 19,160,653 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0824,181,335 - 24,186,701 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1821,097,646 - 21,103,263 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl821,098,005 - 21,107,468 (+)Ensemblpanpan1.1panPan2
NEFM
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12532,493,517 - 32,498,615 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2532,493,675 - 32,498,570 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2533,076,970 - 33,082,075 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02532,692,550 - 32,697,657 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2532,692,550 - 32,697,640 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12532,647,982 - 32,653,102 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02532,497,397 - 32,502,517 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02532,663,548 - 32,668,651 (-)NCBIUU_Cfam_GSD_1.0
Nefm
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494310,410,240 - 10,415,458 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049367571,663,399 - 1,668,075 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049367571,662,905 - 1,668,707 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
NEFM
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1148,955,346 - 8,967,211 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21410,117,172 - 10,122,612 (-)NCBISscrofa10.2Sscrofa10.2susScr3
NEFM
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1823,039,187 - 23,044,668 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl823,039,282 - 23,044,667 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605219,128,898 - 19,136,687 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Nefm
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475820,030,450 - 20,036,105 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in NEFM
78 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2(chr8:23961808-25436108)x3 copy number gain See cases [RCV000052167] Chr8:23961808..25436108 [GRCh38]
Chr8:23819321..25293624 [GRCh37]
Chr8:23875266..25349541 [NCBI36]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p21.2(chr8:24463803-25049184)x3 copy number gain See cases [RCV000052168] Chr8:24463803..25049184 [GRCh38]
Chr8:24321316..24906699 [GRCh37]
Chr8:24377206..24962616 [NCBI36]
Chr8:8p21.2		 uncertain significance
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31210737)x1 copy number loss See cases [RCV000054237] Chr8:24910364..31210737 [GRCh38]
Chr8:24767877..31068253 [GRCh37]
Chr8:24823781..31187795 [NCBI36]
Chr8:8p21.2-12		 pathogenic
NM_005382.2(NEFM):c.1006G>A (p.Gly336Ser) single nucleotide variant not provided [RCV000056971] Chr8:24914799 [GRCh38]
Chr8:24772312 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.104T>A (p.Phe35Tyr) single nucleotide variant not provided [RCV000056972] Chr8:24913897 [GRCh38]
Chr8:24771410 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.1104T>C (p.Asn368=) single nucleotide variant not provided [RCV000056973] Chr8:24915628 [GRCh38]
Chr8:24773141 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.1420A>G (p.Thr474Ala) single nucleotide variant not provided [RCV000056974] Chr8:24917275 [GRCh38]
Chr8:24774788 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.1423G>A (p.Ala475Thr) single nucleotide variant not provided [RCV000056975] Chr8:24917278 [GRCh38]
Chr8:24774791 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2089G>C (p.Gly697Arg) single nucleotide variant not provided [RCV000056976] Chr8:24917944 [GRCh38]
Chr8:24775457 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2153T>C (p.Val718Ala) single nucleotide variant not provided [RCV000056977] Chr8:24918008 [GRCh38]
Chr8:24775521 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2174C>A (p.Pro725Gln) single nucleotide variant not provided [RCV000056978] Chr8:24918029 [GRCh38]
Chr8:24775542 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2263G>T (p.Val755Leu) single nucleotide variant not provided [RCV000056979] Chr8:24918118 [GRCh38]
Chr8:24775631 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2487_2489del (p.Val830del) deletion not provided [RCV000056980] Chr8:24918340..24918342 [GRCh38]
Chr8:24775853..24775855 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.2572G>A (p.Val858Ile) single nucleotide variant not provided [RCV000056981] Chr8:24918427 [GRCh38]
Chr8:24775940 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.387T>G (p.Ile129Met) single nucleotide variant not provided [RCV000056982] Chr8:24914180 [GRCh38]
Chr8:24771693 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.447G>C (p.Ala149=) single nucleotide variant not provided [RCV000056983] Chr8:24914240 [GRCh38]
Chr8:24771753 [GRCh37]
Chr8:8p21.2		 not provided
NM_005382.2(NEFM):c.837C>A (p.Ser279Arg) single nucleotide variant not provided [RCV000056984] Chr8:24914630 [GRCh38]
Chr8:24772143 [GRCh37]
Chr8:8p21.2		 not provided
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormal fetal cardiovascular morphology [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p21.2-12(chr8:24910364-31196357)x1 copy number loss See cases [RCV000136120] Chr8:24910364..31196357 [GRCh38]
Chr8:24767877..31053873 [GRCh37]
Chr8:24823781..31173415 [NCBI36]
Chr8:8p21.2-12		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2		 uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23		 pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21		 pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1		 pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1		 pathogenic
Single allele duplication Gestational diabetes mellitus uncontrolled [RCV000161539] Chr8:24604793..25028671 [GRCh37]
Chr8:8p21.2		 not provided
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
Single allele complex 8p inverted duplication/deletion syndrome [RCV002280753] Chr8:158048..43019304 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autism [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.2-q12.1(chr8:24772064-24813176)x3 copy number gain See cases [RCV000446588] Chr8:24772064..24813176 [GRCh37]
Chr8:8p21.2-q12.1		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:24514488-34808438) copy number gain See cases [RCV000448582] Chr8:24514488..34808438 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12		 not provided
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_005382.2(NEFM):c.2033C>G (p.Ala678Gly) single nucleotide variant not specified [RCV004303455] Chr8:24917888 [GRCh38]
Chr8:24775401 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:24314161-24933369)x3 copy number gain not provided [RCV000682989] Chr8:24314161..24933369 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2		 pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.2(chr8:24677490-25061807)x3 copy number gain not provided [RCV000747481] Chr8:24677490..25061807 [GRCh37]
Chr8:8p21.2		 benign
GRCh37/hg19 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_005382.2(NEFM):c.678G>T (p.Ser226=) single nucleotide variant not provided [RCV000892915] Chr8:24914471 [GRCh38]
Chr8:24771984 [GRCh37]
Chr8:8p21.2		 benign
NM_005382.2(NEFM):c.12G>A (p.Thr4=) single nucleotide variant not provided [RCV000880641] Chr8:24913805 [GRCh38]
Chr8:24771318 [GRCh37]
Chr8:8p21.2		 benign
GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1 copy number loss not provided [RCV000847303] Chr8:23501519..24907990 [GRCh37]
Chr8:8p21.2		 pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p21.2-21.1(chr8:24305969-28673405)x1 copy number loss not provided [RCV001006090] Chr8:24305969..28673405 [GRCh37]
Chr8:8p21.2-21.1		 pathogenic
GRCh37/hg19 8p21.2(chr8:24677568-25116307)x3 copy number gain not provided [RCV001006091] Chr8:24677568..25116307 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1876G>A (p.Gly626Ser) single nucleotide variant not specified [RCV004298329] Chr8:24917731 [GRCh38]
Chr8:24775244 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1702G>A (p.Glu568Lys) single nucleotide variant not specified [RCV004305753] Chr8:24917557 [GRCh38]
Chr8:24775070 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1787C>A (p.Ala596Asp) single nucleotide variant not provided [RCV000898017] Chr8:24917642 [GRCh38]
Chr8:24775155 [GRCh37]
Chr8:8p21.2		 benign
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12		 likely pathogenic
NM_005382.2(NEFM):c.2594G>C (p.Gly865Ala) single nucleotide variant not provided [RCV001356704]|not specified [RCV004034470] Chr8:24918449 [GRCh38]
Chr8:24775962 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.2(chr8:24221648-24947015)x3 copy number gain not provided [RCV001829105] Chr8:24221648..24947015 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
Single allele complex See cases [RCV002292428] Chr8:6999114..11935023 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30187456)x1 copy number loss See cases [RCV002286343] Chr8:158048..30187456 [GRCh37]
Chr8:8p23.3-12		 pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:19779604-26531980)x4 copy number gain not provided [RCV002279745] Chr8:19779604..26531980 [GRCh37]
Chr8:8p21.3-21.2		 pathogenic
GRCh37/hg19 8p21.2(chr8:24709967-24924326)x3 copy number gain not provided [RCV002474745] Chr8:24709967..24924326 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2597G>A (p.Gly866Glu) single nucleotide variant not specified [RCV004164363] Chr8:24918452 [GRCh38]
Chr8:24775965 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1628C>T (p.Ala543Val) single nucleotide variant not specified [RCV004139764] Chr8:24917483 [GRCh38]
Chr8:24774996 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1777G>A (p.Glu593Lys) single nucleotide variant not specified [RCV004227571] Chr8:24917632 [GRCh38]
Chr8:24775145 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.475G>A (p.Ala159Thr) single nucleotide variant not specified [RCV004241218] Chr8:24914268 [GRCh38]
Chr8:24771781 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1501G>C (p.Ala501Pro) single nucleotide variant not specified [RCV004080556] Chr8:24917356 [GRCh38]
Chr8:24774869 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.503A>G (p.Lys168Arg) single nucleotide variant not specified [RCV004199697] Chr8:24914296 [GRCh38]
Chr8:24771809 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.578C>A (p.Ala193Glu) single nucleotide variant not specified [RCV004603396] Chr8:24914371 [GRCh38]
Chr8:24771884 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2461A>C (p.Ser821Arg) single nucleotide variant not specified [RCV004178483] Chr8:24918316 [GRCh38]
Chr8:24775829 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1909G>A (p.Glu637Lys) single nucleotide variant not specified [RCV004120358] Chr8:24917764 [GRCh38]
Chr8:24775277 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1978C>G (p.Pro660Ala) single nucleotide variant not specified [RCV004130135] Chr8:24917833 [GRCh38]
Chr8:24775346 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2338G>A (p.Glu780Lys) single nucleotide variant not specified [RCV004109530] Chr8:24918193 [GRCh38]
Chr8:24775706 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2725G>C (p.Val909Leu) single nucleotide variant not specified [RCV004156075] Chr8:24918580 [GRCh38]
Chr8:24776093 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.628A>C (p.Ile210Leu) single nucleotide variant not specified [RCV004113222] Chr8:24914421 [GRCh38]
Chr8:24771934 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.124C>G (p.Arg42Gly) single nucleotide variant not specified [RCV004107104] Chr8:24913917 [GRCh38]
Chr8:24771430 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2515G>T (p.Ala839Ser) single nucleotide variant not specified [RCV004123707] Chr8:24918370 [GRCh38]
Chr8:24775883 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1578A>C (p.Glu526Asp) single nucleotide variant not specified [RCV004196534] Chr8:24917433 [GRCh38]
Chr8:24774946 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.915G>C (p.Gln305His) single nucleotide variant not specified [RCV004253491] Chr8:24914708 [GRCh38]
Chr8:24772221 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.611G>A (p.Arg204His) single nucleotide variant not specified [RCV004277825] Chr8:24914404 [GRCh38]
Chr8:24771917 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2653G>A (p.Glu885Lys) single nucleotide variant not specified [RCV004280477] Chr8:24918508 [GRCh38]
Chr8:24776021 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p21.3-21.2(chr8:21925038-26372195)x1 copy number loss not provided [RCV003223292] Chr8:21925038..26372195 [GRCh37]
Chr8:8p21.3-21.2		 likely pathogenic
GRCh38/hg38 8p23.1-12(chr8:12721809-30183737)x1 copy number loss Microcephaly [RCV003327707] Chr8:12721809..30183737 [GRCh38]
Chr8:8p23.1-12		 pathogenic
NM_005382.2(NEFM):c.2147A>G (p.Glu716Gly) single nucleotide variant not specified [RCV004341962] Chr8:24918002 [GRCh38]
Chr8:24775515 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.254A>G (p.Asn85Ser) single nucleotide variant not specified [RCV004359911] Chr8:24914047 [GRCh38]
Chr8:24771560 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.226G>A (p.Asp76Asn) single nucleotide variant not specified [RCV004364077] Chr8:24914019 [GRCh38]
Chr8:24771532 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.2-11.21(chr8:2201405-41723095)x3 copy number gain not provided [RCV003484713] Chr8:2201405..41723095 [GRCh37]
Chr8:8p23.2-11.21		 pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12560782-38748763)x3 copy number gain not provided [RCV003484724] Chr8:12560782..38748763 [GRCh37]
Chr8:8p23.1-11.22		 pathogenic
GRCh37/hg19 8p23.1-21.1(chr8:12490999-28150620)x1 copy number loss not provided [RCV003483018] Chr8:12490999..28150620 [GRCh37]
Chr8:8p23.1-21.1		 pathogenic
GRCh37/hg19 8p23.1-11.23(chr8:11945856-37902453)x3 copy number gain not provided [RCV003484722] Chr8:11945856..37902453 [GRCh37]
Chr8:8p23.1-11.23		 pathogenic
GRCh37/hg19 8p22-11.1(chr8:14240573-43824035)x3 copy number gain not provided [RCV003484725] Chr8:14240573..43824035 [GRCh37]
Chr8:8p22-11.1		 pathogenic
Single allele duplication not provided [RCV003448693] Chr8:12530550..43483193 [GRCh37]
Chr8:8p23.1-11.1		 pathogenic
GRCh37/hg19 8p21.2-12(chr8:23754939-30219110)x1 copy number loss not specified [RCV003986748] Chr8:23754939..30219110 [GRCh37]
Chr8:8p21.2-12		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-11.21(chr8:158048-41600696)x3 copy number gain not specified [RCV003986756] Chr8:158048..41600696 [GRCh37]
Chr8:8p23.3-11.21		 pathogenic
GRCh37/hg19 8p21.3-11.1(chr8:20136266-43786723)x3 copy number gain not specified [RCV003986767] Chr8:20136266..43786723 [GRCh37]
Chr8:8p21.3-11.1		 pathogenic
NM_005382.2(NEFM):c.1004G>A (p.Arg335His) single nucleotide variant not specified [RCV004485592] Chr8:24914797 [GRCh38]
Chr8:24772310 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1424C>G (p.Ala475Gly) single nucleotide variant not specified [RCV004485602] Chr8:24917279 [GRCh38]
Chr8:24774792 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2294G>A (p.Gly765Glu) single nucleotide variant not specified [RCV004485647] Chr8:24918149 [GRCh38]
Chr8:24775662 [GRCh37]
Chr8:8p21.2		 likely benign
NM_005382.2(NEFM):c.2666C>A (p.Thr889Asn) single nucleotide variant not specified [RCV004485675] Chr8:24918521 [GRCh38]
Chr8:24776034 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.38C>G (p.Ala13Gly) single nucleotide variant not specified [RCV004485688] Chr8:24913831 [GRCh38]
Chr8:24771344 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.661G>A (p.Asp221Asn) single nucleotide variant not specified [RCV004485697] Chr8:24914454 [GRCh38]
Chr8:24771967 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.766G>A (p.Val256Met) single nucleotide variant not specified [RCV004485704] Chr8:24914559 [GRCh38]
Chr8:24772072 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1730G>T (p.Gly577Val) single nucleotide variant not specified [RCV004485615] Chr8:24917585 [GRCh38]
Chr8:24775098 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1741G>A (p.Glu581Lys) single nucleotide variant not specified [RCV004485619] Chr8:24917596 [GRCh38]
Chr8:24775109 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.361T>C (p.Tyr121His) single nucleotide variant not specified [RCV004485683] Chr8:24914154 [GRCh38]
Chr8:24771667 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2485G>T (p.Val829Phe) single nucleotide variant not specified [RCV004485659] Chr8:24918340 [GRCh38]
Chr8:24775853 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.71T>C (p.Phe24Ser) single nucleotide variant not specified [RCV004485699] Chr8:24913864 [GRCh38]
Chr8:24771377 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2056C>T (p.Pro686Ser) single nucleotide variant not specified [RCV004485636] Chr8:24917911 [GRCh38]
Chr8:24775424 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1844C>T (p.Ser615Phe) single nucleotide variant not specified [RCV004485628] Chr8:24917699 [GRCh38]
Chr8:24775212 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2606C>G (p.Ala869Gly) single nucleotide variant not specified [RCV004485669] Chr8:24918461 [GRCh38]
Chr8:24775974 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1847C>T (p.Pro616Leu) single nucleotide variant not specified [RCV004641471] Chr8:24917702 [GRCh38]
Chr8:24775215 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.965G>A (p.Arg322His) single nucleotide variant not specified [RCV004654710] Chr8:24914758 [GRCh38]
Chr8:24772271 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.520G>A (p.Asp174Asn) single nucleotide variant not specified [RCV004654711] Chr8:24914313 [GRCh38]
Chr8:24771826 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2117A>T (p.Glu706Val) single nucleotide variant not specified [RCV004641472] Chr8:24917972 [GRCh38]
Chr8:24775485 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1970C>T (p.Pro657Leu) single nucleotide variant not specified [RCV004654712] Chr8:24917825 [GRCh38]
Chr8:24775338 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1252A>C (p.Ser418Arg) single nucleotide variant not specified [RCV004654713] Chr8:24917107 [GRCh38]
Chr8:24774620 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1697A>C (p.Gln566Pro) single nucleotide variant not specified [RCV004829691] Chr8:24917552 [GRCh38]
Chr8:24775065 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.172G>T (p.Ala58Ser) single nucleotide variant not specified [RCV004829692] Chr8:24913965 [GRCh38]
Chr8:24771478 [GRCh37]
Chr8:8p21.2		 uncertain significance
GRCh37/hg19 8p23.3-21.2(chr8:158049-24812752)x1 copy number loss not provided [RCV004819357] Chr8:158049..24812752 [GRCh37]
Chr8:8p23.3-21.2		 pathogenic
NM_005382.2(NEFM):c.31C>G (p.Pro11Ala) single nucleotide variant not specified [RCV004829690] Chr8:24913824 [GRCh38]
Chr8:24771337 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2255C>T (p.Ser752Leu) single nucleotide variant not specified [RCV004829693] Chr8:24918110 [GRCh38]
Chr8:24775623 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1435G>A (p.Glu479Lys) single nucleotide variant not specified [RCV004829697] Chr8:24917290 [GRCh38]
Chr8:24774803 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2703A>C (p.Glu901Asp) single nucleotide variant not specified [RCV004829698] Chr8:24918558 [GRCh38]
Chr8:24776071 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2356G>A (p.Glu786Lys) single nucleotide variant not specified [RCV004829701] Chr8:24918211 [GRCh38]
Chr8:24775724 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.773G>A (p.Arg258His) single nucleotide variant not specified [RCV004829699] Chr8:24914566 [GRCh38]
Chr8:24772079 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.562C>T (p.Arg188Cys) single nucleotide variant not specified [RCV004829700] Chr8:24914355 [GRCh38]
Chr8:24771868 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2619C>G (p.Ile873Met) single nucleotide variant not specified [RCV004829689] Chr8:24918474 [GRCh38]
Chr8:24775987 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1432G>C (p.Glu478Gln) single nucleotide variant not specified [RCV004829695] Chr8:24917287 [GRCh38]
Chr8:24774800 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.1694A>G (p.Glu565Gly) single nucleotide variant not specified [RCV004829696] Chr8:24917549 [GRCh38]
Chr8:24775062 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.610C>G (p.Arg204Gly) single nucleotide variant not specified [RCV004829694] Chr8:24914403 [GRCh38]
Chr8:24771916 [GRCh37]
Chr8:8p21.2		 uncertain significance
NM_005382.2(NEFM):c.2109G>T (p.Glu703Asp) single nucleotide variant not specified [RCV004829688] Chr8:24917964 [GRCh38]
Chr8:24775477 [GRCh37]
Chr8:8p21.2		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1425
Count of miRNA genes:448
Interacting mature miRNAs:514
Transcripts:ENST00000221166, ENST00000433454, ENST00000437366, ENST00000518131, ENST00000521540, ENST00000523467
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
1298482BP2_HBlood pressure QTL 2 (human)1.8Blood pressurediastolic8695325632953256Human
1558703SCL6_HSerum cholesterol level QTL 1 (human)1.2Lipid levelHDL cholesterol81246863538468635Human

Markers in Region
PMC125376P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,776,380 - 24,776,599UniSTSGRCh37
Build 36824,832,285 - 24,832,504RGDNCBI36
Celera823,739,791 - 23,740,010RGD
HuRef823,321,084 - 23,321,303UniSTS
NEF3_219  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371056,360,295 - 56,360,933UniSTSGRCh37
GRCh37824,775,971 - 24,776,603UniSTSGRCh37
Build 36824,831,876 - 24,832,508RGDNCBI36
Celera1049,623,439 - 49,624,077UniSTS
Celera823,739,382 - 23,740,014RGD
HuRef1050,344,320 - 50,344,958UniSTS
HuRef823,320,675 - 23,321,307UniSTS
D8S1927  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,776,238 - 24,776,574UniSTSGRCh37
Build 36824,832,143 - 24,832,479RGDNCBI36
Celera823,739,649 - 23,739,985RGD
Cytogenetic Map8p21UniSTS
HuRef823,320,942 - 23,321,278UniSTS
Whitehead-YAC Contig Map8 UniSTS
MARC_16085-16086:1013616869:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37824,771,753 - 24,772,265UniSTSGRCh37
Build 36824,827,658 - 24,828,170RGDNCBI36
Celera823,735,164 - 23,735,676RGD
HuRef823,316,457 - 23,316,969UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
1122 2289 2757 2102 4879 1419 1888 2 384 1305 230 2135 6119 5604 30 3701 758 1591 1392 168 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008388 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001105541 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF106564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF181990 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294681 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK296226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002421 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC071752 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096757 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI496345 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP247321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP311096 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC318935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC332005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC352660 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EF560737 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S46954 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y00067 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000221166   ⟹   ENSP00000221166
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,913,761 - 24,919,093 (+)Ensembl
Ensembl Acc Id: ENST00000433454   ⟹   ENSP00000412295
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,914,942 - 24,919,098 (+)Ensembl
Ensembl Acc Id: ENST00000437366   ⟹   ENSP00000410137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,913,764 - 24,919,090 (+)Ensembl
Ensembl Acc Id: ENST00000518131   ⟹   ENSP00000427872
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,913,761 - 24,918,976 (+)Ensembl
Ensembl Acc Id: ENST00000521540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,913,764 - 24,918,615 (+)Ensembl
Ensembl Acc Id: ENST00000523467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl824,913,758 - 24,915,692 (+)Ensembl
RefSeq Acc Id: NM_001105541   ⟹   NP_001099011
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,914,987 - 24,919,093 (+)NCBI
GRCh37824,770,712 - 24,776,607 (+)NCBI
Build 36824,828,360 - 24,832,511 (+)NCBI Archive
HuRef823,315,978 - 23,321,310 (+)ENTREZGENE
CHM1_1824,974,763 - 24,978,914 (+)NCBI
T2T-CHM13v2.0825,190,140 - 25,194,246 (+)NCBI
Sequence:
RefSeq Acc Id: NM_005382   ⟹   NP_005373
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,913,761 - 24,919,093 (+)NCBI
GRCh37824,770,712 - 24,776,607 (+)NCBI
Build 36824,827,179 - 24,832,511 (+)NCBI Archive
HuRef823,315,978 - 23,321,310 (+)ENTREZGENE
CHM1_1824,973,582 - 24,978,914 (+)NCBI
T2T-CHM13v2.0825,188,914 - 25,194,246 (+)NCBI
Sequence:
RefSeq Acc Id: NP_005373   ⟸   NM_005382
- Peptide Label: isoform 1
- UniProtKB: E9PBF7 (UniProtKB/Swiss-Prot),   B4DGN2 (UniProtKB/Swiss-Prot),   Q4QRK6 (UniProtKB/Swiss-Prot),   P07197 (UniProtKB/Swiss-Prot),   E7ESP9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001099011   ⟸   NM_001105541
- Peptide Label: isoform 2
- UniProtKB: Q9UK51 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000427872   ⟸   ENST00000518131
Ensembl Acc Id: ENSP00000221166   ⟸   ENST00000221166
Ensembl Acc Id: ENSP00000412295   ⟸   ENST00000433454
Ensembl Acc Id: ENSP00000410137   ⟸   ENST00000437366
Protein Domains
IF rod

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P07197-F1-model_v2 AlphaFold P07197 1-916 view protein structure

Promoters
RGD ID:6806897
Promoter ID:HG_KWN:60944
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour
Transcripts:NM_001105541,   OTTHUMT00000254954,   UC010LUD.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36824,827,236 - 24,828,402 (+)MPROMDB
RGD ID:7212899
Promoter ID:EPDNEW_H12195
Type:multiple initiation site
Name:NEFM_1
Description:neurofilament medium
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38824,913,761 - 24,913,821EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:7734 AgrOrtholog
COSMIC NEFM COSMIC
Ensembl Genes ENSG00000104722 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000221166 ENTREZGENE
  ENST00000221166.10 UniProtKB/Swiss-Prot
  ENST00000433454 ENTREZGENE
  ENST00000433454.3 UniProtKB/Swiss-Prot
  ENST00000437366.2 UniProtKB/TrEMBL
  ENST00000518131.5 UniProtKB/TrEMBL
Gene3D-CATH 1.20.5.170 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Single helix bin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Vasodilator-stimulated phosphoprotein UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000104722 GTEx
HGNC ID HGNC:7734 ENTREZGENE
Human Proteome Map NEFM Human Proteome Map
InterPro IF_conserved UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_rod_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermed_filament_DNA-bd UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Intermediate_filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Keratin_I UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:4741 UniProtKB/Swiss-Prot
NCBI Gene 4741 ENTREZGENE
OMIM 162250 OMIM
PANTHER GLIAL FIBRILLARY ACIDIC PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR45652:SF3 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Filament_head UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB NEFM RGD, PharmGKB
PRINTS TYPE1KERATIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE IF_ROD_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  IF_ROD_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART Filament UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Intermediate filament protein, coiled coil region UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A5YM63_HUMAN UniProtKB/TrEMBL
  B4DGN2 ENTREZGENE
  E7EMV2_HUMAN UniProtKB/TrEMBL
  E7ESP9 ENTREZGENE, UniProtKB/TrEMBL
  E9PBF7 ENTREZGENE
  NFM_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q4QRK6 ENTREZGENE
  Q9UK51 ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary B4DGN2 UniProtKB/Swiss-Prot
  E9PBF7 UniProtKB/Swiss-Prot
  Q4QRK6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2021-03-29 NEFM  neurofilament medium chain  NEFM  neurofilament medium  Symbol and/or name change 19259463 PROVISIONAL
2016-12-13 NEFM  neurofilament medium  NEFM  neurofilament, medium polypeptide  Symbol and/or name change 5135510 APPROVED