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Gene: NAXE (NAD(P)HX epimerase) Homo sapiens

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Symbol:

NAXE

Name:

NAD(P)HX epimerase

RGD ID:

1312295

HGNC Page

HGNC:18453

Description:

Predicted to enable NAD(P)HX epimerase activity. Involved in several processes, including membrane raft distribution; negative regulation of angiogenesis; and regulation of cholesterol efflux. Located in extracellular region.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

AI-BP; AIBP; apoA-I binding protein; APOA1BP; apolipoprotein A-I-binding protein; MGC119143; MGC119144; MGC119145; NAD(P)H-hydrate epimerase; PEBEL; yjeF N-terminal domain-containing protein 1; yjeF_N1; YJEFN1

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Naxe (NAD(P)HX epimerase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Naxe (NAD(P)HX epimerase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Naxe (NAD(P)HX epimerase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	NAXE (NAD(P)HX epimerase)	NCBI	Ortholog
Canis lupus familiaris (dog):	NAXE (NAD(P)HX epimerase)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Naxe (NAD(P)HX epimerase)	NCBI	Ortholog
Sus scrofa (pig):	NAXE (NAD(P)HX epimerase)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	NAXE (NAD(P)HX epimerase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Naxe (NAD(P)HX epimerase)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Naxe (NAD(P)HX epimerase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Naxe (NAD(P)HX epimerase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	NNR1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Naxe	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Caenorhabditis elegans (roundworm):	Y18D10A.3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	naxe	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	selenot	Alliance	DIOPT (Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	naxe.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	naxe	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)

Related Pseudogenes:

AC020904.1 AC136632.2

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	156,591,776 - 156,594,299 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	156,591,756 - 156,609,507 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	156,561,568 - 156,564,091 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	154,828,182 - 154,830,715 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	153,374,642 - 153,377,162	NCBI
Celera	1	129,632,348 - 129,634,881 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI
HuRef	1	127,919,237 - 127,921,770 (+)	NCBI		HuRef
CHM1_1	1	157,957,748 - 157,960,281 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	155,728,152 - 155,730,675 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	Charcot-Marie-Tooth disease type 2		IAGP	RGD:151720994	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:18585512\|PMID:18926329\|PMID:28492532
NAXE	Human	Charcot-Marie-Tooth disease type 2		IAGP	RGD:151790784	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:28492532\|PMID:29845577
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		IAGP	RGD:14696323	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	ClinVar	PMID:25741868\|PMID:27290639\|PMID:27616477\|PMID:28492532\|PMID:33798445
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		IAGP	RGD:598122811	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	ClinVar	PMID:25741868
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		IAGP	RGD:11531347	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	ClinVar	PMID:27122014
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		IAGP	RGD:11567771\|RGD:11567780\|RGD:11567782\|RGD:11567784	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	ClinVar	PMID:27616477
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy		IAGP	RGD:11567783	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy	ClinVar	PMID:27290639\|PMID:27616477
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:14696323	8554872	ClinVar Annotator: match by term: NAXE-related condition	ClinVar	PMID:25741868\|PMID:27290639\|PMID:27616477\|PMID:28492532\|PMID:33798445
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:156136167	8554872	ClinVar Annotator: match by term: NAXE-related condition	ClinVar	PMID:28492532
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:126744222\|RGD:126744226\|RGD:150407824\|RGD:150407832\|RGD:150542989\|RGD:150557077\|RGD:150557078\|RGD:151349615\|RGD:28876191	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	ClinVar	PMID:25741868
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:151727713	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	ClinVar
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:150546169	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	ClinVar	PMID:33798445
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:598125962	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	ClinVar	PMID:25741868\|PMID:38703036
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP	RGD:127304349\|RGD:127308456\|RGD:127308462\|RGD:127308466\|RGD:127308471\|RGD:127308479\|RGD:151820201\|RGD:156210945	8554872	ClinVar Annotator: match by term: Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 \| more ...	ClinVar	PMID:25741868\|PMID:28492532
NAXE	Human	gastrointestinal stromal tumor		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
NAXE	Human	genetic disease		IAGP	RGD:155946189\|RGD:156061873\|RGD:156179896\|RGD:156245890\|RGD:405769440	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
NAXE	Human	genetic disease		IAGP	RGD:156210945	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:25741868\|PMID:28492532
NAXE	Human	genetic disease		IAGP	RGD:150423969	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:28492532
NAXE	Human	immunodeficiency 42		IAGP	RGD:151819225	8554872	ClinVar Annotator: match by term: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete more ...	ClinVar	PMID:28492532
NAXE	Human	MHC class II deficiency		IAGP	RGD:151819225	8554872	ClinVar Annotator: match by term: MHC class II deficiency	ClinVar	PMID:28492532
NAXE	Human	parathyroid carcinoma		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532
NAXE	Human	severe congenital neutropenia 3		IAGP	RGD:151819225	8554872	ClinVar Annotator: match by term: Kostmann syndrome	ClinVar	PMID:28492532
NAXE	Human	severe congenital neutropenia 5		IAGP	RGD:151819225	8554872	ClinVar Annotator: match by term: Congenital neutropenia-myelofibrosis-nephromegaly syndrome	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	Early-Onset Progressive Encephalopathy with Brain Edema and/or Leukoencephalopathy 1		IAGP		7240710		OMIM

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1312296	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of NAXE mRNA	CTD	PMID:22206623
NAXE	Human	1,2-dimethylhydrazine	decreases expression	ISO	RGD:1312296	6480464	1,2-Dimethylhydrazine results in decreased expression of NAXE mRNA	CTD	PMID:22206623
NAXE	Human	17beta-estradiol	decreases expression	ISO	RGD:1312296	6480464	Estradiol results in decreased expression of NAXE mRNA	CTD	PMID:39298647
NAXE	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	RGD:1312296	6480464	2,3',4,4',5-pentachlorobiphenyl results in increased expression of NAXE mRNA	CTD	PMID:31388691
NAXE	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	RGD:1312296	6480464	Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to NAXE promoter]	CTD	PMID:19654925
NAXE	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	RGD:1312296	6480464	Tetrachlorodibenzodioxin affects the expression of NAXE mRNA	CTD	PMID:21570461
NAXE	Human	acetamide	decreases expression	ISO	RGD:1304699	6480464	acetamide results in decreased expression of NAXE mRNA	CTD	PMID:31881176
NAXE	Human	acrylamide	decreases expression	EXP		6480464	Acrylamide results in decreased expression of NAXE mRNA	CTD	PMID:32763439
NAXE	Human	actinomycin D	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of NAXE protein	CTD	PMID:38460933
NAXE	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of NAXE mRNA	CTD	PMID:24449571
NAXE	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of NAXE mRNA	CTD	PMID:33212167
NAXE	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to NAXE mRNA]	CTD	PMID:32406909
NAXE	Human	atrazine	decreases expression	EXP		6480464	Atrazine results in decreased expression of NAXE mRNA	CTD	PMID:22378314
NAXE	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	RGD:1312296	6480464	Diethylhexyl Phthalate results in increased expression of NAXE mRNA	CTD	PMID:33754040
NAXE	Human	bisphenol A	increases expression	ISO	RGD:1304699	6480464	bisphenol A results in increased expression of NAXE mRNA	CTD	PMID:25181051\|PMID:30816183\|PMID:32528016
NAXE	Human	bisphenol A	decreases expression	ISO	RGD:1312296	6480464	bisphenol A results in decreased expression of NAXE mRNA	CTD	PMID:33221593
NAXE	Human	bisphenol A	increases expression	EXP		6480464	bisphenol A results in increased expression of NAXE mRNA	CTD	PMID:25047013
NAXE	Human	C60 fullerene	decreases expression	ISO	RGD:1304699	6480464	fullerene C60 results in decreased expression of NAXE mRNA	CTD	PMID:19167457
NAXE	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of NAXE protein	CTD	PMID:24527689
NAXE	Human	cadmium dichloride	increases expression	ISO	RGD:1312296	6480464	Cadmium Chloride results in increased expression of NAXE mRNA	CTD	PMID:24982889
NAXE	Human	chlorpyrifos	increases expression	ISO	RGD:1312296	6480464	Chlorpyrifos results in increased expression of NAXE mRNA	CTD	PMID:37019170
NAXE	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of NAXE mRNA	CTD	PMID:19320972
NAXE	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of NAXE mRNA	CTD	PMID:20106945\|PMID:25562108
NAXE	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of NAXE mRNA	CTD	PMID:37042841
NAXE	Human	dibutyl phthalate	decreases expression	ISO	RGD:1312296	6480464	Dibutyl Phthalate results in decreased expression of NAXE mRNA	CTD	PMID:21266533
NAXE	Human	doxorubicin	increases expression	EXP		6480464	Doxorubicin results in increased expression of NAXE mRNA	CTD	PMID:29803840
NAXE	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of NAXE mRNA	CTD	PMID:27188386
NAXE	Human	fenthion	increases expression	ISO	RGD:1312296	6480464	Fenthion results in increased expression of NAXE mRNA	CTD	PMID:34813904
NAXE	Human	folic acid	multiple interactions	ISO	RGD:1312296	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of NAXE mRNA	CTD	PMID:22206623
NAXE	Human	gentamycin	increases expression	ISO	RGD:1304699	6480464	Gentamicins results in increased expression of NAXE mRNA	CTD	PMID:22061828
NAXE	Human	inulin	multiple interactions	ISO	RGD:1312296	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of NAXE mRNA	CTD	PMID:36331819
NAXE	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of NAXE protein	CTD	PMID:32959892
NAXE	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of NAXE mRNA	CTD	PMID:23649840
NAXE	Human	microcystin RR	decreases expression	EXP		6480464	microcystin RR results in decreased expression of NAXE protein	CTD	PMID:19111056
NAXE	Human	Nutlin-3	multiple interactions	EXP		6480464	[Dactinomycin co-treated with nutlin 3] results in increased secretion of NAXE protein	CTD	PMID:38460933
NAXE	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of NAXE mRNA	CTD	PMID:22230336
NAXE	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	RGD:1312296	6480464	[perfluorooctane sulfonic acid co-treated with Inulin] results in increased expression of NAXE mRNA; [perfluorooctane sulfonic more ...	CTD	PMID:36331819
NAXE	Human	perfluorooctanoic acid	increases expression	ISO	RGD:1312296	6480464	perfluorooctanoic acid results in increased expression of NAXE protein	CTD	PMID:28126411\|PMID:37422089
NAXE	Human	phenobarbital	decreases expression	EXP		6480464	Phenobarbital results in decreased expression of NAXE protein	CTD	PMID:35881160
NAXE	Human	phenobarbital	decreases expression	ISO	RGD:1312296	6480464	Phenobarbital results in decreased expression of NAXE protein	CTD	PMID:35881160
NAXE	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1,3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in increased expression of NAXE more ...	CTD	PMID:37664457
NAXE	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of NAXE mRNA	CTD	PMID:38568856
NAXE	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of NAXE mRNA	CTD	PMID:34032870
NAXE	Human	thalidomide	decreases expression	ISO	RGD:1312296	6480464	Thalidomide results in decreased expression of NAXE mRNA	CTD	PMID:26217789
NAXE	Human	thioacetamide	decreases expression	ISO	RGD:1304699	6480464	Thioacetamide results in decreased expression of NAXE mRNA	CTD	PMID:34492290
NAXE	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of NAXE mRNA	CTD	PMID:38568856
NAXE	Human	titanium dioxide	decreases methylation	ISO	RGD:1312296	6480464	titanium dioxide results in decreased methylation of APOA1BP gene	CTD	PMID:35295148
NAXE	Human	urethane	decreases expression	EXP		6480464	Urethane results in decreased expression of NAXE mRNA	CTD	PMID:28818685
NAXE	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of NAXE mRNA	CTD	PMID:23179753\|PMID:27188386
NAXE	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of NAXE mRNA	CTD	PMID:25979313
NAXE	Human	valproic acid	increases expression	ISO	RGD:1312296	6480464	Valproic Acid results in increased expression of NAXE mRNA	CTD	PMID:21427059

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	lipid transport	involved_in	IEA	UniProtKB-KW:KW-0445	150520179		UniProt	GO_REF:0000043
NAXE	Human	membrane raft distribution	involved_in	IMP	ZFIN:ZDB-MRPHLNO-130813-3	150520179	PMID:23719382	UniProt	PMID:23719382
NAXE	Human	metabolite repair	involved_in	IEA	UniProtKB:B0BNM1\|ensembl:ENSRNOP00000025986	150520179		Ensembl	GO_REF:0000107
NAXE	Human	negative regulation of angiogenesis	involved_in	IMP	ZFIN:ZDB-MRPHLNO-130813-3	150520179	PMID:23719382	UniProt	PMID:23719382
NAXE	Human	nicotinamide nucleotide metabolic process	involved_in	IMP		150520179	PMID:27616477	UniProt	PMID:27616477
NAXE	Human	regulation of cholesterol efflux	involved_in	IMP	ZFIN:ZDB-MRPHLNO-130813-3	150520179	PMID:23719382	UniProt	PMID:23719382
NAXE	Human	sprouting angiogenesis	involved_in	IMP	ZFIN:ZDB-MRPHLNO-130813-3	150520179	PMID:23719382	UniProt	PMID:23719382

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	cell body	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	cilium	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	cytosol	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	extracellular exosome	located_in	HDA		150520179	PMID:23533145	UniProt	PMID:23533145
NAXE	Human	extracellular region	located_in	IEA	UniProtKB-KW:KW-0964	150520179		UniProt	GO_REF:0000043
NAXE	Human	extracellular region	located_in	IEA	UniProtKB-SubCell:SL-0243	150520179		UniProt	GO_REF:0000044
NAXE	Human	extracellular region	located_in	IDA		150520179	PMID:11991719	UniProt	PMID:11991719
NAXE	Human	extracellular space	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	extracellular space	located_in	ISS	UniProtKB:Q0PIT9	150520179	PMID:22261194	BHF-UCL	PMID:22261194
NAXE	Human	mitochondrial matrix	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6806966
NAXE	Human	mitochondrion	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	mitochondrion	is_active_in	IBA	MGI:2180167\|PANTHER:PTN000325829	150520179		GO_Central	GO_REF:0000033
NAXE	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
NAXE	Human	mitochondrion	located_in	IEA	UniProtKB-SubCell:SL-0173	150520179		UniProt	GO_REF:0000044
NAXE	Human	mitochondrion	located_in	IEA	UniRule:UR000375952	150520179		UniProt	GO_REF:0000104
NAXE	Human	mitochondrion	located_in	HTP		150520179	PMID:34800366	FlyBase	PMID:34800366
NAXE	Human	nucleus	located_in	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	identical protein binding	enables	IEA	UniProtKB:Q8K4Z3\|ensembl:ENSMUSP00000029708	150520179		Ensembl	GO_REF:0000107
NAXE	Human	isomerase activity	enables	IEA	UniProtKB-KW:KW-0413	150520179		UniProt	GO_REF:0000043
NAXE	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
NAXE	Human	NAD(P)HX epimerase activity	enables	IEA	UniRule:UR000375952	150520179		UniProt	GO_REF:0000104
NAXE	Human	NAD(P)HX epimerase activity	enables	IBA	PANTHER:PTN000325829\|RGD:1304699\|SGD:S000005144	150520179		GO_Central	GO_REF:0000033
NAXE	Human	NAD(P)HX epimerase activity	enables	IEA	UniProtKB:B0BNM1\|ensembl:ENSRNOP00000025986	150520179		Ensembl	GO_REF:0000107
NAXE	Human	NAD(P)HX epimerase activity	enables	IEA	EC:5.1.99.6	150520179		UniProt	GO_REF:0000003
NAXE	Human	NAD(P)HX epimerase activity	enables	IEA	RHEA:32215\|RHEA:32227	150520179		RHEA	GO_REF:0000116
NAXE	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
NAXE	Human	protein binding	enables	IPI	UniProtKB:P02647\|UniProtKB:P02652	150520179	PMID:11991719	UniProt	PMID:11991719
NAXE	Human	protein binding	enables	IPI	UniProtKB:P02647	150520179	PMID:23719382	UniProt	PMID:23719382

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	Abducens palsy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Abnormal activity of mitochondrial respiratory chain		IAGP		8699517		HPO	MIM:617186\|PMID:27122014
NAXE	Human	Ataxia		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:617186\|PMID:27122014
NAXE	Human	Bradypnea		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Brain atrophy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Cerebellar edema		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Cerebral edema		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Cerebral white matter atrophy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Cervical myelopathy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Childhood onset		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Coma		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Death in childhood		IAGP		8699517		HPO	MIM:617186\|PMID:27122014\|PMID:27616477
NAXE	Human	Developmental regression		IAGP		8699517		HPO	MIM:617186\|PMID:27122014\|PMID:27616477
NAXE	Human	Dysarthria		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Elevated brain choline level by MRS		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Encephalopathy		IAGP		8699517		HPO	MIM:617186\|PMID:27122014
NAXE	Human	Fatigue		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Global brain atrophy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Global developmental delay		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Hypotonia		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Increased circulating lactate concentration		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Increased CSF lactate		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Infantile onset		IAGP		8699517		HPO	MIM:617186\|PMID:27122014\|PMID:27616477
NAXE	Human	Irritability		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Lactic acidosis		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Leukoencephalopathy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Myelopathy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Myoclonic seizure		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Nystagmus		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Rapidly progressive		IAGP		8699517		HPO	MIM:617186\|PMID:27122014
NAXE	Human	Respiratory failure		IAGP		8699517		HPO	MIM:617186\|PMID:27122014
NAXE	Human	Restlessness		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Rigidity		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Seizure		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Skin erosion		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Strabismus		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Tetraparesis		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Torticollis		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Tremor		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Ventriculomegaly		IAGP		8699517		HPO	MIM:617186\|PMID:27616477
NAXE	Human	Vertical supranuclear gaze palsy		IAGP		8699517		HPO	MIM:617186\|PMID:27616477

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
NAXE	Human	Gastrointestinal stroma tumor		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Gastrointestinal stromal tumor	ClinVar	PMID:28492532
NAXE	Human	Parathyroid carcinoma		IAGP	RGD:126734315	8554872	ClinVar Annotator: match by term: Parathyroid carcinoma	ClinVar	PMID:28492532

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:11991719	PMID:12477932	PMID:17521614	PMID:17533573	PMID:20000738	PMID:20634891	PMID:20855565	PMID:20877624	PMID:21873635	PMID:21900206	PMID:21994945	PMID:22261194
PMID:22360420	PMID:23376485	PMID:23533145	PMID:23719382	PMID:23793025	PMID:26114227	PMID:26344197	PMID:27122014	PMID:27616477	PMID:28515276	PMID:29618705	PMID:29654173
PMID:29791485	PMID:30022751	PMID:30135304	PMID:31536960	PMID:31586073	PMID:31745726	PMID:31758406	PMID:32020600	PMID:32707033	PMID:32787522	PMID:32963011	PMID:33356389
PMID:33729478	PMID:33932069	PMID:33961781	PMID:34120322	PMID:34800366	PMID:35007762	PMID:35256949	PMID:35271311	PMID:35446349	PMID:35545034	PMID:35696571	PMID:35819538
PMID:35831314	PMID:36215168	PMID:36773198	PMID:37054706	PMID:37827155	PMID:37832842

NAXE
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	156,591,776 - 156,594,299 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	156,591,756 - 156,609,507 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	156,561,568 - 156,564,091 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	154,828,182 - 154,830,715 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	153,374,642 - 153,377,162	NCBI
Celera	1	129,632,348 - 129,634,881 (+)	NCBI		Celera
Cytogenetic Map	1	q22	NCBI
HuRef	1	127,919,237 - 127,921,770 (+)	NCBI		HuRef
CHM1_1	1	157,957,748 - 157,960,281 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	155,728,152 - 155,730,675 (+)	NCBI		T2T-CHM13v2.0

Naxe
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	3	87,963,827 - 87,965,851 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	3	87,963,827 - 87,965,802 (-)	Ensembl		GRCm39 Ensembl
GRCm38	3	88,056,520 - 88,058,542 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	3	88,056,520 - 88,058,495 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	3	87,860,445 - 87,862,417 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	3	88,142,450 - 88,144,422 (-)	NCBI		MGSCv36	mm8
Celera	3	88,096,041 - 88,098,013 (-)	NCBI		Celera
Cytogenetic Map	3	F1	NCBI
cM Map	3	38.78	NCBI

Naxe
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	2	175,816,824 - 175,818,903 (-)	NCBI		GRCr8
mRatBN7.2	2	173,518,971 - 173,521,036 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	2	173,518,971 - 173,521,040 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	2	180,663,782 - 180,665,845 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	2	178,686,143 - 178,688,206 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	2	173,286,339 - 173,288,404 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	2	187,424,319 - 187,426,410 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	2	187,424,327 - 187,426,375 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	2	206,827,336 - 206,829,422 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	2	180,132,497 - 180,134,558 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	2	180,082,661 - 180,094,499 (-)	NCBI
Celera	2	167,466,212 - 167,468,273 (-)	NCBI		Celera
Cytogenetic Map	2	q34	NCBI

Naxe
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955545	2,682,385 - 2,684,518 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955545	2,682,384 - 2,687,348 (+)	NCBI	ChiLan1.0	ChiLan1.0

NAXE
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	93,237,467 - 93,252,885 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	92,971,984 - 92,987,394 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	131,935,295 - 131,937,843 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	135,758,868 - 135,761,416 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	135,758,868 - 135,761,416 (+)	Ensembl	panpan1.1		panPan2

NAXE
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	7	41,367,248 - 41,369,733 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	7	41,367,275 - 41,369,862 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	7	40,854,553 - 40,857,041 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	7	41,230,402 - 41,232,892 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	7	41,230,429 - 41,232,898 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	7	41,012,056 - 41,014,536 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	7	41,065,296 - 41,067,780 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	7	41,348,969 - 41,351,458 (-)	NCBI		UU_Cfam_GSD_1.0

Naxe
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	26,739,217 - 26,742,251 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936580	5,769,633 - 5,772,582 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936580	5,769,583 - 5,772,633 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

NAXE
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	4	93,490,537 - 93,496,396 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	4	93,493,234 - 93,495,912 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	4	102,289,153 - 102,291,831 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

NAXE
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	7,267,885 - 7,270,440 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	7,268,100 - 7,270,442 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666038	6,564,280 - 6,567,063 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Naxe
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla_female_1.0 Ensembl	NW_004624885	1,780,882 - 1,783,242 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624885	1,780,894 - 1,783,288 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in NAXE
132 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 1q22-23.1(chr1:156593261-156653428)x3	copy number gain	See cases [RCV000051554]	Chr1:156593261..156653428 [GRCh38] Chr1:156563053..156623220 [GRCh37] Chr1:154829677..154889844 [NCBI36] Chr1:1q22-23.1	uncertain significance
NM_144772.3(NAXE):c.435del (p.Arg145fs)	deletion	not provided [RCV005078542]	Chr1:156592588 [GRCh38] Chr1:156562380 [GRCh37] Chr1:1q22	pathogenic
GRCh38/hg38 1q22-23.1(chr1:156256495-156681863)x1	copy number loss	See cases [RCV000138561]	Chr1:156256495..156681863 [GRCh38] Chr1:156226286..156651655 [GRCh37] Chr1:154492910..154918279 [NCBI36] Chr1:1q22-23.1	likely pathogenic
GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	copy number gain	See cases [RCV000139902]	Chr1:154566501..157624084 [GRCh38] Chr1:154538977..157593874 [GRCh37] Chr1:152805601..155860498 [NCBI36] Chr1:1q21.3-23.1	pathogenic
GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	copy number gain	See cases [RCV000143515]	Chr1:149854269..180267197 [GRCh38] Chr1:149825831..180236332 [GRCh37] Chr1:148092455..178502955 [NCBI36] Chr1:1q21.2-25.2	pathogenic
NM_144772.3(NAXE):c.653A>T (p.Asp218Val)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576941]	Chr1:156593544 [GRCh38] Chr1:156563336 [GRCh37] Chr1:1q22	pathogenic\|not provided
NM_144772.3(NAXE):c.177C>A (p.Tyr59Ter)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576936]	Chr1:156591981 [GRCh38] Chr1:156561773 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.804_807delinsA (p.Lys270del)	indel	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576939]\|Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV000258817]	Chr1:156594021..156594024 [GRCh38] Chr1:156563813..156563816 [GRCh37] Chr1:1q22	pathogenic\|conflicting interpretations of pathogenicity
NM_144772.3(NAXE):c.196C>T (p.Gln66Ter)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576937]	Chr1:156592114 [GRCh38] Chr1:156561906 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.743del (p.Ala248fs)	deletion	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576940]	Chr1:156593960 [GRCh38] Chr1:156563752 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.516+1G>A	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576938]	Chr1:156592671 [GRCh38] Chr1:156562463 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.281C>A (p.Ala94Asp)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004576934]	Chr1:156592199 [GRCh38] Chr1:156561991 [GRCh37] Chr1:1q22	pathogenic\|uncertain significance
Single allele	inversion	Pediatric metastatic thyroid tumour [RCV000585807]	Chr1:154130985..156843877 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	copy number gain	not provided [RCV000585385]	Chr1:153751465..156660462 [GRCh37] Chr1:1q21.3-23.1	likely pathogenic
NM_144772.3(NAXE):c.733A>C (p.Lys245Gln)	single nucleotide variant	not provided [RCV000484708]	Chr1:156593950 [GRCh38] Chr1:156563742 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.468_478delinsATCCCTTTCCTTGGGG (p.Gln157fs)	indel	not provided [RCV000479500]	Chr1:156592622..156592632 [GRCh38] Chr1:156562414..156562424 [GRCh37] Chr1:1q22	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	copy number loss	not provided [RCV000684658]	Chr1:155636337..158024499 [GRCh37] Chr1:1q22-23.1	pathogenic
GRCh37/hg19 1q22-23.1(chr1:155999570-156844432)x3	copy number gain	not provided [RCV000684659]	Chr1:155999570..156844432 [GRCh37] Chr1:1q22-23.1	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
LMNA-NTRK1 fusion	fusion	Congenital fibrosarcoma [RCV000754610]	Chr1:156100565..156844697 [GRCh37] Chr1:1q22-23.1	pathogenic
NM_144772.3(NAXE):c.565G>A (p.Gly189Ser)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001095389]	Chr1:156593456 [GRCh38] Chr1:156563248 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.*116C>G	single nucleotide variant	not provided [RCV001609488]	Chr1:156594200 [GRCh38] Chr1:156563992 [GRCh37] Chr1:1q22	benign
NC_000001.11:g.156591769CCGGG[5]	microsatellite	not provided [RCV001708926]	Chr1:156591765..156591766 [GRCh38] Chr1:156561557..156561558 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.796G>A (p.Ala266Thr)	single nucleotide variant	not provided [RCV000900422]	Chr1:156594013 [GRCh38] Chr1:156563805 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.516+9C>A	single nucleotide variant	not provided [RCV000881145]	Chr1:156592679 [GRCh38] Chr1:156562471 [GRCh37] Chr1:1q22	benign\|likely benign
NM_144772.3(NAXE):c.354G>C (p.Gly118=)	single nucleotide variant	not provided [RCV000880360]	Chr1:156592427 [GRCh38] Chr1:156562219 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.597G>A (p.Pro199=)	single nucleotide variant	not provided [RCV000923805]	Chr1:156593488 [GRCh38] Chr1:156563280 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.326dup (p.Thr110fs)	duplication	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV001267663]\|Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV000785167]\|NAXE-related disorder [RCV003411725]\|not provided [RCV001873197]	Chr1:156592393..156592394 [GRCh38] Chr1:156562185..156562186 [GRCh37] Chr1:1q22	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	copy number gain	not provided [RCV000848811]	Chr1:155770505..156652136 [GRCh37] Chr1:1q22-23.1	uncertain significance
NM_144772.3(NAXE):c.490C>A (p.Pro164Thr)	single nucleotide variant	See cases [RCV003232997]	Chr1:156592644 [GRCh38] Chr1:156562436 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.517-219T>C	single nucleotide variant	not provided [RCV001679403]	Chr1:156593189 [GRCh38] Chr1:156562981 [GRCh37] Chr1:1q22	benign
NC_000001.11:g.156591768_156591769insTCGGGCCGGG	insertion	not provided [RCV001649722]	Chr1:156591765..156591766 [GRCh38] Chr1:156561557..156561558 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.213G>A (p.Glu71=)	single nucleotide variant	not provided [RCV000932639]	Chr1:156592131 [GRCh38] Chr1:156561923 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.756C>T (p.Thr252=)	single nucleotide variant	not provided [RCV000916880]	Chr1:156593973 [GRCh38] Chr1:156563765 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.473G>C (p.Cys158Ser)	single nucleotide variant	See cases [RCV003232627]	Chr1:156592627 [GRCh38] Chr1:156562419 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.257T>C (p.Leu86Pro)	single nucleotide variant	Inborn genetic diseases [RCV002570707]\|not provided [RCV001556033]	Chr1:156592175 [GRCh38] Chr1:156561967 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.11:g.156591769CCGGG[6]	microsatellite	not provided [RCV001636424]	Chr1:156591765..156591766 [GRCh38] Chr1:156561557..156561558 [GRCh37] Chr1:1q22	benign
NC_000001.11:g.156591622T>C	single nucleotide variant	not provided [RCV001677829]	Chr1:156591622 [GRCh38] Chr1:156561414 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.664+57T>G	single nucleotide variant	not provided [RCV001698657]	Chr1:156593612 [GRCh38] Chr1:156563404 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.664+94G>A	single nucleotide variant	not provided [RCV001641106]	Chr1:156593649 [GRCh38] Chr1:156563441 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.664+114A>T	single nucleotide variant	not provided [RCV001714086]	Chr1:156593669 [GRCh38] Chr1:156563461 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.664+28G>A	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554162]\|not provided [RCV001694106]	Chr1:156593583 [GRCh38] Chr1:156563375 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.517-175A>G	single nucleotide variant	not provided [RCV001652433]	Chr1:156593233 [GRCh38] Chr1:156563025 [GRCh37] Chr1:1q22	benign
NC_000001.11:g.156597920C>T	single nucleotide variant	not provided [RCV003409150]	Chr1:156597920 [GRCh38] Chr1:156567712 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.*22T>C	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554166]\|not provided [RCV001694107]	Chr1:156594106 [GRCh38] Chr1:156563898 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.430A>C (p.Lys144Gln)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001330393]	Chr1:156592584 [GRCh38] Chr1:156562376 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_130980840)_(248900000_?)dup	duplication	Gastrointestinal stromal tumor [RCV001300221]\|Parathyroid carcinoma [RCV001341077]	Chr1:130980840..248900000 [GRCh37] Chr1:1q12-44	uncertain significance
NM_144772.3(NAXE):c.385C>G (p.Arg129Gly)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001330392]	Chr1:156592458 [GRCh38] Chr1:156562250 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.651C>T (p.Ile217=)	single nucleotide variant	not provided [RCV001499263]	Chr1:156593542 [GRCh38] Chr1:156563334 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.292-14G>A	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554161]\|not provided [RCV001515840]	Chr1:156592351 [GRCh38] Chr1:156562143 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.846G>A (p.Glu282=)	single nucleotide variant	not provided [RCV001467121]	Chr1:156594063 [GRCh38] Chr1:156563855 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.55G>C (p.Val19Leu)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554159]\|not provided [RCV001517520]	Chr1:156591859 [GRCh38] Chr1:156561651 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.291+7G>A	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554160]\|not provided [RCV001517521]	Chr1:156592216 [GRCh38] Chr1:156562008 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.717A>C (p.Ile239=)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554163]\|not provided [RCV001517522]	Chr1:156593934 [GRCh38] Chr1:156563726 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.804G>A (p.Glu268=)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554164]\|not provided [RCV001517523]	Chr1:156594021 [GRCh38] Chr1:156563813 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.843C>T (p.Thr281=)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001554165]\|not provided [RCV001517524]	Chr1:156594060 [GRCh38] Chr1:156563852 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.128C>A (p.Ser43Ter)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV003236334]\|not provided [RCV004725695]	Chr1:156591932 [GRCh38] Chr1:156561724 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.776G>A (p.Gly259Glu)	single nucleotide variant	not provided [RCV001772641]	Chr1:156593993 [GRCh38] Chr1:156563785 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.668G>A (p.Trp223Ter)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001782498]	Chr1:156593885 [GRCh38] Chr1:156563677 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.611T>C (p.Leu204Pro)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001775336]	Chr1:156593502 [GRCh38] Chr1:156563294 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.229del (p.Gln77fs)	deletion	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001775337]	Chr1:156592146 [GRCh38] Chr1:156561938 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.180_182+1del	deletion	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001782499]	Chr1:156591984..156591987 [GRCh38] Chr1:156561776..156561779 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.536dup (p.Tyr180fs)	duplication	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001808873]	Chr1:156593426..156593427 [GRCh38] Chr1:156563218..156563219 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.811T>C (p.Tyr271His)	single nucleotide variant	not provided [RCV001896500]	Chr1:156594028 [GRCh38] Chr1:156563820 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.536T>C (p.Leu179Pro)	single nucleotide variant	not provided [RCV001911359]	Chr1:156593427 [GRCh38] Chr1:156563219 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_155581953)_(156851434_?)del	deletion	Charcot-Marie-Tooth disease type 2 [RCV001983077]	Chr1:155581953..156851434 [GRCh37] Chr1:1q22-23.1	pathogenic
NM_144772.3(NAXE):c.559A>G (p.Ile187Val)	single nucleotide variant	not provided [RCV001911538]	Chr1:156593450 [GRCh38] Chr1:156563242 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.262G>T (p.Gly88Trp)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV001844359]	Chr1:156592180 [GRCh38] Chr1:156561972 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.310A>C (p.Met104Leu)	single nucleotide variant	not provided [RCV001907744]	Chr1:156592383 [GRCh38] Chr1:156562175 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.541G>A (p.Glu181Lys)	single nucleotide variant	not provided [RCV001983749]	Chr1:156593432 [GRCh38] Chr1:156563224 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.484G>C (p.Asp162His)	single nucleotide variant	not provided [RCV002041546]	Chr1:156592638 [GRCh38] Chr1:156562430 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_149895434)_(156851434_?)dup	duplication	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency [RCV001958273]\|Congenital neutropenia-myelofibrosis-nephromegaly syndrome [RCV001958271]\|Kostmann syndrome [RCV003120769]\|MHC class II deficiency [RCV001992607]	Chr1:149895434..156851434 [GRCh37] Chr1:1q21.2-23.1	uncertain significance
NM_144772.3(NAXE):c.761G>A (p.Arg254His)	single nucleotide variant	not provided [RCV001963410]	Chr1:156593978 [GRCh38] Chr1:156563770 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.412C>T (p.Pro138Ser)	single nucleotide variant	not provided [RCV002000922]	Chr1:156592566 [GRCh38] Chr1:156562358 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.842_843delinsTT (p.Thr281Ile)	indel	not provided [RCV001931703]	Chr1:156594059..156594060 [GRCh38] Chr1:156563851..156563852 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.641T>C (p.Ile214Thr)	single nucleotide variant	not provided [RCV001875591]	Chr1:156593532 [GRCh38] Chr1:156563324 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.10:g.(?_154141761)_(156851434_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV001990060]	Chr1:154141761..156851434 [GRCh37] Chr1:1q21.3-23.1	uncertain significance
NM_144772.3(NAXE):c.1A>G (p.Met1Val)	single nucleotide variant	not provided [RCV002009905]	Chr1:156591805 [GRCh38] Chr1:156561597 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.845A>T (p.Glu282Val)	single nucleotide variant	not provided [RCV001865208]	Chr1:156594062 [GRCh38] Chr1:156563854 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.61C>T (p.Arg21Trp)	single nucleotide variant	not provided [RCV001974898]	Chr1:156591865 [GRCh38] Chr1:156561657 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.20T>C (p.Leu7Pro)	single nucleotide variant	not provided [RCV001932560]	Chr1:156591824 [GRCh38] Chr1:156561616 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.166G>C (p.Val56Leu)	single nucleotide variant	not provided [RCV001979524]	Chr1:156591970 [GRCh38] Chr1:156561762 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.202G>C (p.Val68Leu)	single nucleotide variant	NAXE-related disorder [RCV003948853]\|not provided [RCV001975652]	Chr1:156592120 [GRCh38] Chr1:156561912 [GRCh37] Chr1:1q22	likely benign\|uncertain significance
NM_144772.3(NAXE):c.26_40del (p.Gly9_Leu13del)	deletion	not provided [RCV002028700]	Chr1:156591822..156591836 [GRCh38] Chr1:156561614..156561628 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.560T>C (p.Ile187Thr)	single nucleotide variant	not provided [RCV001998777]	Chr1:156593451 [GRCh38] Chr1:156563243 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.533A>G (p.Glu178Gly)	single nucleotide variant	not provided [RCV001906374]	Chr1:156593424 [GRCh38] Chr1:156563216 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.241G>C (p.Asp81His)	single nucleotide variant	not provided [RCV001973041]	Chr1:156592159 [GRCh38] Chr1:156561951 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.846G>C (p.Glu282Asp)	single nucleotide variant	not provided [RCV001992717]	Chr1:156594063 [GRCh38] Chr1:156563855 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.487A>G (p.Ile163Val)	single nucleotide variant	not provided [RCV002013584]	Chr1:156592641 [GRCh38] Chr1:156562433 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.191A>C (p.Glu64Ala)	single nucleotide variant	not provided [RCV001921552]	Chr1:156592109 [GRCh38] Chr1:156561901 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.590G>A (p.Arg197Gln)	single nucleotide variant	not provided [RCV001917993]	Chr1:156593481 [GRCh38] Chr1:156563273 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.291+6_291+7inv	inversion	not provided [RCV001897384]	Chr1:156592215..156592216 [GRCh38] Chr1:156562007..156562008 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.246A>G (p.Gln82=)	single nucleotide variant	not provided [RCV002147023]	Chr1:156592164 [GRCh38] Chr1:156561956 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.330T>C (p.Thr110=)	single nucleotide variant	not provided [RCV002192155]	Chr1:156592403 [GRCh38] Chr1:156562195 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.517-15C>T	single nucleotide variant	not provided [RCV002116456]\|not specified [RCV005239269]	Chr1:156593393 [GRCh38] Chr1:156563185 [GRCh37] Chr1:1q22	benign\|likely benign
NM_144772.3(NAXE):c.825G>A (p.Leu275=)	single nucleotide variant	not provided [RCV002192183]	Chr1:156594042 [GRCh38] Chr1:156563834 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.306G>A (p.Thr102=)	single nucleotide variant	not provided [RCV002195868]	Chr1:156592379 [GRCh38] Chr1:156562171 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.165G>A (p.Thr55=)	single nucleotide variant	not provided [RCV002132438]	Chr1:156591969 [GRCh38] Chr1:156561761 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.627A>G (p.Gly209=)	single nucleotide variant	not provided [RCV002219869]	Chr1:156593518 [GRCh38] Chr1:156563310 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.665-12C>T	single nucleotide variant	not provided [RCV002143846]	Chr1:156593870 [GRCh38] Chr1:156563662 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.402+14G>A	single nucleotide variant	not provided [RCV002082925]	Chr1:156592489 [GRCh38] Chr1:156562281 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.57G>A (p.Val19=)	single nucleotide variant	not provided [RCV002199474]	Chr1:156591861 [GRCh38] Chr1:156561653 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.182+14T>C	single nucleotide variant	not provided [RCV002183030]	Chr1:156592000 [GRCh38] Chr1:156561792 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.516+10T>C	single nucleotide variant	not provided [RCV002120558]	Chr1:156592680 [GRCh38] Chr1:156562472 [GRCh37] Chr1:1q22	likely benign
NC_000001.10:g.(?_156554669)_(156568838_?)del	deletion	not provided [RCV003113644]	Chr1:156554669..156568838 [GRCh37] Chr1:1q23.1	pathogenic
NM_144772.3(NAXE):c.724A>G (p.Thr242Ala)	single nucleotide variant	not provided [RCV002296809]	Chr1:156593941 [GRCh38] Chr1:156563733 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.113C>T (p.Pro38Leu)	single nucleotide variant	not provided [RCV002303370]	Chr1:156591917 [GRCh38] Chr1:156561709 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.516+14G>A	single nucleotide variant	not provided [RCV002726891]	Chr1:156592684 [GRCh38] Chr1:156562476 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.516+4G>C	single nucleotide variant	not provided [RCV002618578]	Chr1:156592674 [GRCh38] Chr1:156562466 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.342C>T (p.Ile114=)	single nucleotide variant	not provided [RCV002795007]	Chr1:156592415 [GRCh38] Chr1:156562207 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.524C>T (p.Thr175Met)	single nucleotide variant	not provided [RCV002968089]	Chr1:156593415 [GRCh38] Chr1:156563207 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.703C>T (p.Pro235Ser)	single nucleotide variant	not provided [RCV002815374]	Chr1:156593920 [GRCh38] Chr1:156563712 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.370G>T (p.Gly124Cys)	single nucleotide variant	Inborn genetic diseases [RCV002839852]	Chr1:156592443 [GRCh38] Chr1:156562235 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.182+13C>G	single nucleotide variant	not provided [RCV002617514]	Chr1:156591999 [GRCh38] Chr1:156561791 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.174G>A (p.Lys58=)	single nucleotide variant	not provided [RCV002695065]	Chr1:156591978 [GRCh38] Chr1:156561770 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.757G>A (p.Gly253Ser)	single nucleotide variant	not provided [RCV002800382]	Chr1:156593974 [GRCh38] Chr1:156563766 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.842C>T (p.Thr281Ile)	single nucleotide variant	Inborn genetic diseases [RCV002868197]\|not provided [RCV003883906]	Chr1:156594059 [GRCh38] Chr1:156563851 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.758del (p.Gly253fs)	deletion	not provided [RCV002591083]	Chr1:156593974 [GRCh38] Chr1:156563766 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.402+7A>T	single nucleotide variant	not provided [RCV002760167]	Chr1:156592482 [GRCh38] Chr1:156562274 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.856C>T (p.Arg286Cys)	single nucleotide variant	not provided [RCV002953059]	Chr1:156594073 [GRCh38] Chr1:156563865 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.582C>T (p.Gly194=)	single nucleotide variant	NAXE-related disorder [RCV003963492]\|not provided [RCV002954056]	Chr1:156593473 [GRCh38] Chr1:156563265 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.23T>C (p.Leu8Pro)	single nucleotide variant	Inborn genetic diseases [RCV002713673]	Chr1:156591827 [GRCh38] Chr1:156561619 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.306G>T (p.Thr102=)	single nucleotide variant	not provided [RCV002852192]	Chr1:156592379 [GRCh38] Chr1:156562171 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.294A>G (p.Ala98=)	single nucleotide variant	not provided [RCV002914974]	Chr1:156592367 [GRCh38] Chr1:156562159 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.5C>T (p.Ser2Phe)	single nucleotide variant	not provided [RCV002740994]	Chr1:156591809 [GRCh38] Chr1:156561601 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.676G>C (p.Glu226Gln)	single nucleotide variant	not provided [RCV002828568]	Chr1:156593893 [GRCh38] Chr1:156563685 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.701A>G (p.Gln234Arg)	single nucleotide variant	Inborn genetic diseases [RCV002742216]	Chr1:156593918 [GRCh38] Chr1:156563710 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.71G>A (p.Ser24Asn)	single nucleotide variant	not provided [RCV003005830]	Chr1:156591875 [GRCh38] Chr1:156561667 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.183-6C>G	single nucleotide variant	not provided [RCV002596244]	Chr1:156592095 [GRCh38] Chr1:156561887 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.848G>T (p.Cys283Phe)	single nucleotide variant	not provided [RCV002574308]	Chr1:156594065 [GRCh38] Chr1:156563857 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.760C>T (p.Arg254Cys)	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV003330110]\|Inborn genetic diseases [RCV002918159]\|not provided [RCV002900513]	Chr1:156593977 [GRCh38] Chr1:156563769 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.59C>A (p.Pro20Gln)	single nucleotide variant	not provided [RCV002595382]	Chr1:156591863 [GRCh38] Chr1:156561655 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.658C>G (p.Pro220Ala)	single nucleotide variant	not provided [RCV003057851]	Chr1:156593549 [GRCh38] Chr1:156563341 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.108G>T (p.Trp36Cys)	single nucleotide variant	not provided [RCV003087207]	Chr1:156591912 [GRCh38] Chr1:156561704 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.664+18G>T	single nucleotide variant	not provided [RCV002938022]	Chr1:156593573 [GRCh38] Chr1:156563365 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.192G>A (p.Glu64=)	single nucleotide variant	not provided [RCV003027775]	Chr1:156592110 [GRCh38] Chr1:156561902 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.765C>T (p.Tyr255=)	single nucleotide variant	not provided [RCV002649293]	Chr1:156593982 [GRCh38] Chr1:156563774 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.664+4C>G	single nucleotide variant	not provided [RCV003009191]	Chr1:156593559 [GRCh38] Chr1:156563351 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.54_55delinsTC (p.Val19Leu)	indel	not provided [RCV002672132]	Chr1:156591858..156591859 [GRCh38] Chr1:156561650..156561651 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.237C>G (p.Ser79Arg)	single nucleotide variant	not provided [RCV002770083]\|not specified [RCV005239501]	Chr1:156592155 [GRCh38] Chr1:156561947 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.717A>T (p.Ile239=)	single nucleotide variant	not provided [RCV002580019]	Chr1:156593934 [GRCh38] Chr1:156563726 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.164C>T (p.Thr55Met)	single nucleotide variant	not provided [RCV003051425]	Chr1:156591968 [GRCh38] Chr1:156561760 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.473G>A (p.Cys158Tyr)	single nucleotide variant	not provided [RCV003129091]	Chr1:156592627 [GRCh38] Chr1:156562419 [GRCh37] Chr1:1q22	uncertain significance
NAXE, (GGGCC)n REPEAT EXPANSION, PROMOTER	microsatellite	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV004795361]		pathogenic
GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	copy number gain	Chromosome 1q21.1 duplication syndrome [RCV003329522]	Chr1:142535935..157648813 [GRCh37] Chr1:1q12-23.1	pathogenic
NM_144772.3(NAXE):c.779del (p.Gly260fs)	deletion	not specified [RCV003331727]	Chr1:156593991 [GRCh38] Chr1:156563783 [GRCh37] Chr1:1q22	uncertain significance
NC_000001.11:g.156598254C>T	single nucleotide variant	not provided [RCV003409152]	Chr1:156598254 [GRCh38] Chr1:156568046 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q22-23.1(chr1:156486831-156590431)x1	copy number loss	not provided [RCV003483416]	Chr1:156486831..156590431 [GRCh37] Chr1:1q22-23.1	uncertain significance
NM_144772.3(NAXE):c.73C>T (p.Gln25Ter)	single nucleotide variant	NAXE-related disorder [RCV003403045]	Chr1:156591877 [GRCh38] Chr1:156561669 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.182+11G>A	single nucleotide variant	not provided [RCV003547111]	Chr1:156591997 [GRCh38] Chr1:156561789 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.184C>T (p.Gln62Ter)	single nucleotide variant	not provided [RCV003813753]	Chr1:156592102 [GRCh38] Chr1:156561894 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.531T>C (p.Asp177=)	single nucleotide variant	not provided [RCV003672015]	Chr1:156593422 [GRCh38] Chr1:156563214 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.27C>T (p.Gly9=)	single nucleotide variant	not provided [RCV003723570]	Chr1:156591831 [GRCh38] Chr1:156561623 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.22C>T (p.Leu8=)	single nucleotide variant	not provided [RCV003734446]	Chr1:156591826 [GRCh38] Chr1:156561618 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.540T>G (p.Tyr180Ter)	single nucleotide variant	not provided [RCV003728155]	Chr1:156593431 [GRCh38] Chr1:156563223 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.665-19A>G	single nucleotide variant	not provided [RCV003821604]	Chr1:156593863 [GRCh38] Chr1:156563655 [GRCh37] Chr1:1q22	benign
NM_144772.3(NAXE):c.460T>C (p.Leu154=)	single nucleotide variant	not provided [RCV003821934]	Chr1:156592614 [GRCh38] Chr1:156562406 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.862C>T (p.Gln288Ter)	single nucleotide variant	not provided [RCV003863258]	Chr1:156594079 [GRCh38] Chr1:156563871 [GRCh37] Chr1:1q22	uncertain significance
GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	copy number gain	not specified [RCV003986717]	Chr1:144368497..158992086 [GRCh37] Chr1:1q21.1-23.1	pathogenic
NM_144772.3(NAXE):c.645C>T (p.Ala215=)	single nucleotide variant	not provided [RCV003722267]	Chr1:156593536 [GRCh38] Chr1:156563328 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.234C>T (p.Phe78=)	single nucleotide variant	not provided [RCV003712442]	Chr1:156592152 [GRCh38] Chr1:156561944 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.807G>A (p.Lys269=)	single nucleotide variant	not provided [RCV003862824]	Chr1:156594024 [GRCh38] Chr1:156563816 [GRCh37] Chr1:1q22	likely benign
GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	copy number loss	not specified [RCV003986928]	Chr1:154302443..156868186 [GRCh37] Chr1:1q21.3-23.1	pathogenic
GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	copy number gain	not specified [RCV003987261]	Chr1:146577511..157155587 [GRCh37] Chr1:1q21.1-23.1	pathogenic
NM_144772.3(NAXE):c.303C>T (p.Pro101=)	single nucleotide variant	not provided [RCV003710955]	Chr1:156592376 [GRCh38] Chr1:156562168 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.183-6C>T	single nucleotide variant	NAXE-related disorder [RCV003893956]	Chr1:156592095 [GRCh38] Chr1:156561887 [GRCh37] Chr1:1q22	likely benign
GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	copy number gain	not provided [RCV004577444]	Chr1:155709113..159191078 [GRCh37] Chr1:1q22-23.2	likely pathogenic
NM_144772.3(NAXE):c.589C>T (p.Arg197Trp)	single nucleotide variant	Inborn genetic diseases [RCV004470028]	Chr1:156593480 [GRCh38] Chr1:156563272 [GRCh37] Chr1:1q22	uncertain significance
NM_144772.3(NAXE):c.516+15T>C	single nucleotide variant	not provided [RCV005062607]	Chr1:156592685 [GRCh38] Chr1:156562477 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.664+2T>A	single nucleotide variant	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy [RCV005250480]	Chr1:156593557 [GRCh38] Chr1:156563349 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.502dup (p.Glu168fs)	duplication	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 [RCV005233249]	Chr1:156592652..156592653 [GRCh38] Chr1:156562444..156562445 [GRCh37] Chr1:1q22	likely pathogenic
NM_144772.3(NAXE):c.459A>G (p.Ala153=)	single nucleotide variant	not provided [RCV005080683]	Chr1:156592613 [GRCh38] Chr1:156562405 [GRCh37] Chr1:1q22	likely benign
NM_144772.3(NAXE):c.7_23dup (p.Leu10fs)	duplication	not provided [RCV005163239]	Chr1:156591810..156591811 [GRCh38] Chr1:156561602..156561603 [GRCh37] Chr1:1q22	pathogenic
NM_144772.3(NAXE):c.672C>T (p.Asp224=)	single nucleotide variant	not provided [RCV005194282]	Chr1:156593889 [GRCh38] Chr1:156563681 [GRCh37] Chr1:1q22	likely benign

Predicted Target Of

	Summary Value
Count of predictions:	979
Count of miRNA genes:	549
Interacting mature miRNAs:	622
Transcripts:	ENST00000368233, ENST00000368234, ENST00000368235, ENST00000467374, ENST00000488840
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1357381	BW57_H	Body weight QTL 57 (human)	1	0.0001	Body weight	fat free mass after exercise training	1	140630236	166630236	Human
597496737	GWAS1592811_H	protein measurement QTL GWAS1592811 (human)		1e-72	protein measurement		1	156593934	156593935	Human

WI-13531

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,563,946 - 156,564,071	UniSTS	GRCh37
Build 36	1	154,830,570 - 154,830,695	RGD	NCBI36
Celera	1	129,634,736 - 129,634,861	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q22	UniSTS
HuRef	1	127,921,625 - 127,921,750	UniSTS
GeneMap99-GB4 RH Map	1	538.71	UniSTS
Whitehead-RH Map	1	701.1	UniSTS

RH83

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,564,453 - 156,564,562	UniSTS	GRCh37
Build 36	1	154,831,077 - 154,831,186	RGD	NCBI36
Celera	1	129,635,243 - 129,635,352	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q22	UniSTS
HuRef	1	127,922,132 - 127,922,241	UniSTS

G60215

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,563,743 - 156,564,048	UniSTS	GRCh37
Build 36	1	154,830,367 - 154,830,672	RGD	NCBI36
Celera	1	129,634,533 - 129,634,838	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	127,921,422 - 127,921,727	UniSTS
TNG Radiation Hybrid Map	1	70061.0	UniSTS

D5S449E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,561,750 - 156,561,949	UniSTS	GRCh37
Build 36	1	154,828,374 - 154,828,573	RGD	NCBI36
Celera	1	129,632,540 - 129,632,739	RGD
Cytogenetic Map	1	q21	UniSTS
HuRef	1	127,919,429 - 127,919,628	UniSTS

RH15878

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,564,420 - 156,564,578	UniSTS	GRCh37
Build 36	1	154,831,044 - 154,831,202	RGD	NCBI36
Celera	1	129,635,210 - 129,635,368	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q22	UniSTS
HuRef	1	127,922,099 - 127,922,257	UniSTS
GeneMap99-GB4 RH Map	1	562.58	UniSTS
NCBI RH Map	1	1393.1	UniSTS

WIAF-2182

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	156,563,867 - 156,564,043	UniSTS	GRCh37
Build 36	1	154,830,491 - 154,830,667	RGD	NCBI36
Celera	1	129,634,657 - 129,634,833	RGD
Cytogenetic Map	1	q21	UniSTS
Cytogenetic Map	1	q22	UniSTS
HuRef	1	127,921,546 - 127,921,722	UniSTS
GeneMap99-GB4 RH Map	1	562.58	UniSTS
NCBI RH Map	1	1393.1	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

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	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_052542	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_144772	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017000319	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AJ315849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK294835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK298222	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK316083	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365181	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC056917	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100932	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100933	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG723681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ430064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471121	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000368233 ⟹ ENSP00000357216

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,778 - 156,593,876 (+)	Ensembl

Ensembl Acc Id:

ENST00000368234 ⟹ ENSP00000357217

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,762 - 156,594,131 (+)	Ensembl

Ensembl Acc Id:

ENST00000368235 ⟹ ENSP00000357218

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,776 - 156,594,299 (+)	Ensembl

Ensembl Acc Id:

ENST00000467374

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,776 - 156,594,261 (+)	Ensembl

Ensembl Acc Id:

ENST00000488840

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,593,275 - 156,594,129 (+)	Ensembl

Ensembl Acc Id:

ENST00000679369 ⟹ ENSP00000505883

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,599,383 (+)	Ensembl

Ensembl Acc Id:

ENST00000679649

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,595,741 (+)	Ensembl

Ensembl Acc Id:

ENST00000679702 ⟹ ENSP00000505913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,609,507 (+)	Ensembl

Ensembl Acc Id:

ENST00000679913

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,756 - 156,599,795 (+)	Ensembl

Ensembl Acc Id:

ENST00000680004 ⟹ ENSP00000506275

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,607,104 (+)	Ensembl

Ensembl Acc Id:

ENST00000680087 ⟹ ENSP00000505907

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,598,179 (+)	Ensembl

Ensembl Acc Id:

ENST00000680269 ⟹ ENSP00000505899

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,602,460 (+)	Ensembl

Ensembl Acc Id:

ENST00000680529

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,776 - 156,599,350 (+)	Ensembl

Ensembl Acc Id:

ENST00000680661 ⟹ ENSP00000505088

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,602,510 (+)	Ensembl

Ensembl Acc Id:

ENST00000681054 ⟹ ENSP00000506192

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,606,892 (+)	Ensembl

Ensembl Acc Id:

ENST00000681523 ⟹ ENSP00000505349

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,607,087 (+)	Ensembl

Ensembl Acc Id:

ENST00000681645

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,599,393 (+)	Ensembl

Ensembl Acc Id:

ENST00000681734 ⟹ ENSP00000506177

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,598,309 (+)	Ensembl

Ensembl Acc Id:

ENST00000681825

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,592,270 - 156,602,460 (+)	Ensembl

Ensembl Acc Id:

ENST00000681922

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	156,591,766 - 156,602,460 (+)	Ensembl

RefSeq Acc Id:

NM_144772 ⟹ NP_658985

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,591,776 - 156,594,299 (+)	NCBI
GRCh37	1	156,561,554 - 156,564,091 (+)	NCBI
Build 36	1	154,828,182 - 154,830,715 (+)	NCBI Archive
Celera	1	129,632,348 - 129,634,881 (+)	RGD
HuRef	1	127,919,237 - 127,921,770 (+)	ENTREZGENE
CHM1_1	1	157,957,748 - 157,960,281 (+)	NCBI
T2T-CHM13v2.0	1	155,728,152 - 155,730,675 (+)	NCBI

Sequence:

show sequence

GGGCCGGGGGCGCGCGCTCTGCGAGCTGGATGTCCAGGCTGCGGGCGCTGCTGGGCCTCGGGCTGCTGGTTGCGGGCTCGCGCGTGCCGCGGATCAAAAGCCAGACCATCGCCTGTCGCTCGGGACCC
ACCTGGTGGGGACCGCAGCGGCTGAACTCGGGTGGCCGCTGGGACTCAGAGGTCATGGCGAGCACGGTGGTGAAGTACCTGAGCCAGGAGGAGGCCCAGGCCGTGGACCAGGAGCTATTTAACGAATA
CCAGTTCAGCGTGGACCAACTTATGGAACTGGCCGGGCTGAGCTGTGCTACAGCCATCGCCAAGGCATATCCCCCCACGTCCATGTCCAGGAGCCCCCCTACTGTCCTGGTCATCTGTGGCCCGGGGA
ATAATGGAGGAGATGGTCTGGTCTGTGCTCGACACCTCAAACTCTTTGGCTACGAGCCAACCATCTATTACCCCAAAAGGCCTAACAAGCCCCTCTTCACTGCATTGGTGACCCAGTGTCAGAAAATG
GACATCCCTTTCCTTGGGGAAATGCCCGCAGAGCCCATGACGATTGATGAACTGTATGAGCTGGTGGTGGATGCCATCTTTGGCTTCAGCTTCAAGGGCGATGTTCGGGAACCGTTCCACAGCATCCT
GAGTGTCCTGAAGGGACTCACTGTGCCCATTGCCAGCATCGACATTCCCTCAGGATGGGACGTGGAGAAGGGAAATGCTGGAGGGATCCAGCCAGACTTGCTCATATCCCTCACAGCCCCCAAAAAAT
CTGCAACCCAGTTTACCGGTCGCTACCATTACCTGGGGGGTCGTTTTGTGCCACCTGCTCTGGAGAAGAAGTACCAGCTGAACCTGCCACCCTACCCTGACACCGAGTGTGTCTATCGTCTGCAGTGA
GGGAAGGTGGGTGGGTATTCTTCCCAATAAAGACTTAGAGCCCCTCTCTTCCAGAACTGTGGATTCCTGGGAGCTCCTCTGGCAATAAAAGTCAGTGAATGGTGGAAGTCAGAGACCAACCCTGGGGA
TTGGGTGCCATCTCTCTAGGGGTAACACAAAGGGCAAGAGGTTGCTATGGTATTTGGAAACAATGAAAATGGACTGTTAGATGCCAA

hide sequence


Protein RefSeqs	NP_658985	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH56917	(Get FASTA)	NCBI Sequence Viewer
	AAI00932	(Get FASTA)	NCBI Sequence Viewer
	AAI00933	(Get FASTA)	NCBI Sequence Viewer
	AAI00934	(Get FASTA)	NCBI Sequence Viewer
	AAI00935	(Get FASTA)	NCBI Sequence Viewer
	BAG57944	(Get FASTA)	NCBI Sequence Viewer
	BAG60492	(Get FASTA)	NCBI Sequence Viewer
	BAH14454	(Get FASTA)	NCBI Sequence Viewer
	CAC86580	(Get FASTA)	NCBI Sequence Viewer
	EAW52941	(Get FASTA)	NCBI Sequence Viewer
	EAW52942	(Get FASTA)	NCBI Sequence Viewer
	EAW52943	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000357218
	ENSP00000357218.3
	ENSP00000505349.1
	ENSP00000505899.1
	ENSP00000505913.1
	ENSP00000506192.1
	ENSP00000506275.1
GenBank Protein	Q8NCW5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_658985 ⟸ NM_144772
- Peptide Label:	precursor
- UniProtKB:	Q496C6 (UniProtKB/Swiss-Prot), B4DGY3 (UniProtKB/Swiss-Prot), Q5T3I2 (UniProtKB/Swiss-Prot), Q8NCW5 (UniProtKB/Swiss-Prot), B4DP80 (UniProtKB/TrEMBL)
- Sequence:	show sequence MSRLRALLGLGLLVAGSRVPRIKSQTIACRSGPTWWGPQRLNSGGRWDSEVMASTVVKYLSQEEAQAVDQELFNEYQFSVDQLMELAGLSCATAIAKAYPPTSMSRSPPTVLVICGPGNNGGDGLVCA RHLKLFGYEPTIYYPKRPNKPLFTALVTQCQKMDIPFLGEMPAEPMTIDELYELVVDAIFGFSFKGDVREPFHSILSVLKGLTVPIASIDIPSGWDVEKGNAGGIQPDLLISLTAPKKSATQFTGRYH YLGGRFVPPALEKKYQLNLPPYPDTECVYRLQ hide sequence

Ensembl Acc Id:

ENSP00000357218 ⟸ ENST00000368235

Ensembl Acc Id:

ENSP00000357217 ⟸ ENST00000368234

Ensembl Acc Id:

ENSP00000357216 ⟸ ENST00000368233

Ensembl Acc Id:

ENSP00000505088 ⟸ ENST00000680661

Protein Domains

YjeF N-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NCW5-F1-model_v2	AlphaFold	Q8NCW5	1-288	view protein structure

RGD ID:

6784613

Promoter ID:

HG_KWN:5540

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000081044, OTTHUMT00000081046, UC001FPG.1, UC001FPI.1, UC001FPJ.1, UC001FPK.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	154,827,196 - 154,828,527 (+)	MPROMDB

RGD ID:

6853022

Promoter ID:

EP74332

Type:

initiation region

Name:

HS_APOA1BP

Description:

Apolipoprotein A-I binding protein.

SO ACC ID:

SO:0000170

Source:

EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	154,828,182 - 154,828,242	EPD

RGD ID:

6784614

Promoter ID:

HG_KWN:5541

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000081048

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	154,828,766 - 154,830,097 (+)	MPROMDB

RGD ID:

6857596

Promoter ID:

EPDNEW_H1963

Type:

initiation region

Name:

NAXE_1

Description:

NADHX epimerase

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	156,591,776 - 156,591,836	EPDNEW

Database	Acc Id	Source(s)
COSMIC	NAXE	COSMIC
Ensembl Genes	ENSG00000163382	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000368235	ENTREZGENE
	ENST00000368235.8	UniProtKB/Swiss-Prot
	ENST00000679702.1	UniProtKB/Swiss-Prot
	ENST00000680004.1	UniProtKB/Swiss-Prot
	ENST00000680269.1	UniProtKB/Swiss-Prot
	ENST00000681054.1	UniProtKB/Swiss-Prot
	ENST00000681523.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.10260	UniProtKB/Swiss-Prot
GTEx	ENSG00000163382	GTEx
HGNC ID	HGNC:18453	ENTREZGENE
Human Proteome Map	NAXE	Human Proteome Map
InterPro	YjeF_N_dom	UniProtKB/Swiss-Prot
	YjeF_N_dom_sf	UniProtKB/Swiss-Prot
	YJEFN_prot_eukaryotes	UniProtKB/Swiss-Prot
KEGG Report	hsa:128240	UniProtKB/Swiss-Prot
NCBI Gene	128240	ENTREZGENE
OMIM	608862	OMIM
PANTHER	NAD(P)H-HYDRATE EPIMERASE	UniProtKB/Swiss-Prot
	PTHR13232	UniProtKB/Swiss-Prot
Pfam	YjeF_N	UniProtKB/Swiss-Prot
PharmGKB	PA38538	PharmGKB
PROSITE	YJEF_N	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF64153	UniProtKB/Swiss-Prot
UniProt	A0A7P0T9Y2_HUMAN	UniProtKB/TrEMBL
	A0A7P0TA18_HUMAN	UniProtKB/TrEMBL
	A0A7P0TAG8_HUMAN	UniProtKB/TrEMBL
	A0A7P0Z426_HUMAN	UniProtKB/TrEMBL
	B4DGY3	ENTREZGENE
	B4DP80	ENTREZGENE, UniProtKB/TrEMBL
	NNRE_HUMAN	UniProtKB/Swiss-Prot
	Q496C6	ENTREZGENE
	Q5T3I2	ENTREZGENE
	Q5T3I3_HUMAN	UniProtKB/TrEMBL
	Q5T3I4_HUMAN	UniProtKB/TrEMBL
	Q8NCW5	ENTREZGENE
UniProt Secondary	B4DGY3	UniProtKB/Swiss-Prot
	Q496C6	UniProtKB/Swiss-Prot
	Q5T3I2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-03-14	NAXE	NAD(P)HX epimerase	APOA1BP	apolipoprotein A-I binding protein	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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