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Gene: HELQ (helicase, POLQ like) Homo sapiens

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Symbol:

HELQ

Name:

helicase, POLQ like

RGD ID:

1605893

HGNC Page

HGNC:18536

Description:

Enables single-stranded 3'-5' DNA helicase activity. Involved in DNA double-strand break processing involved in repair via single-strand annealing; double-strand break repair via alternative nonhomologous end joining; and double-strand break repair via synthesis-dependent strand annealing. Is active in nucleus and site of DNA damage.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

DNA helicase HEL308; HEL308; helicase POLQ-like; helicase, POLQ-like; MGC20604; mus308-like helicase; POLQ-like helicase

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):	Helq (helicase, POLQ-like)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Helq (helicase, POLQ-like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Helq (helicase, POLQ like)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HELQ (helicase, POLQ like)	NCBI	Ortholog
Canis lupus familiaris (dog):	HELQ (helicase, POLQ like)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Helq (helicase, POLQ like)	NCBI	Ortholog
Sus scrofa (pig):	HELQ (helicase, POLQ like)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HELQ (helicase, POLQ like)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Helq (helicase, POLQ like)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Nisch (nischarin)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Helq (helicase, POLQ-like)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Helq (helicase, POLQ-like)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	helq (helicase, POLQ like)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	helq-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	mus301	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	helq.S	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	helq	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)

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	4	83,407,346 - 83,455,883 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	83,407,343 - 83,455,855 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	84,328,499 - 84,377,036 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	84,547,523 - 84,596,049 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	81,618,948 - 81,667,478 (-)	NCBI		Celera
Cytogenetic Map	4	q21.23	NCBI
HuRef	4	80,071,300 - 80,119,800 (-)	NCBI		HuRef
CHM1_1	4	84,305,076 - 84,353,599 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	86,737,435 - 86,785,950 (-)	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)
HELQ	Human	chromosome 4q21 deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 4q21 deletion syndrome	ClinVar

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
HELQ	Human	2,2',4,4'-Tetrabromodiphenyl ether	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Flame Retardants results in increased abundance of 2 more ...	CTD	PMID:38995820
HELQ	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Helq (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of HELQ mRNA	CTD	PMID:21570461
HELQ	Human	2-palmitoylglycerol	increases expression	EXP		6480464	2-palmitoylglycerol results in increased expression of HELQ mRNA	CTD	PMID:37199045
HELQ	Human	3,4-methylenedioxymethamphetamine	increases expression	ISO	Helq (Mus musculus)	6480464	N-Methyl-3 and 4-methylenedioxyamphetamine results in increased expression of HELQ mRNA	CTD	PMID:20188158
HELQ	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HELQ mRNA	CTD	PMID:28628672
HELQ	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of HELQ mRNA	CTD	PMID:32763439
HELQ	Human	aflatoxin B1	increases expression	ISO	Helq (Mus musculus)	6480464	Aflatoxin B1 results in increased expression of HELQ mRNA	CTD	PMID:19770486
HELQ	Human	amphetamine	decreases expression	ISO	Helq (Rattus norvegicus)	6480464	Amphetamine results in decreased expression of HELQ mRNA	CTD	PMID:30779732
HELQ	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of HELQ mRNA	CTD	PMID:22316170
HELQ	Human	bisphenol A	affects expression	ISO	Helq (Rattus norvegicus)	6480464	bisphenol A affects the expression of HELQ mRNA	CTD	PMID:25181051
HELQ	Human	bisphenol A	increases expression	ISO	Helq (Mus musculus)	6480464	bisphenol A results in increased expression of HELQ mRNA	CTD	PMID:33221593
HELQ	Human	bisphenol A	affects splicing	ISO	Helq (Mus musculus)	6480464	bisphenol A affects the splicing of HELQ mRNA	CTD	PMID:37894381
HELQ	Human	bisphenol A	increases methylation	ISO	Helq (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of HELQ gene	CTD	PMID:28505145
HELQ	Human	bisphenol A	decreases methylation	ISO	Helq (Mus musculus)	6480464	bisphenol A results in decreased methylation of HELQ promoter	CTD	PMID:27312807
HELQ	Human	bisphenol A	increases expression	ISO	Helq (Rattus norvegicus)	6480464	bisphenol A results in increased expression of HELQ mRNA	CTD	PMID:30816183 and PMID:32528016
HELQ	Human	Bisphenol A diglycidyl ether	affects splicing	ISO	Helq (Mus musculus)	6480464	bisphenol A diglycidyl ether affects the splicing of HELQ mRNA	CTD	PMID:36464114
HELQ	Human	bisphenol AF	affects splicing	ISO	Helq (Mus musculus)	6480464	bisphenol AF affects the splicing of HELQ mRNA	CTD	PMID:36464114
HELQ	Human	bisphenol F	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HELQ mRNA	CTD	PMID:28628672
HELQ	Human	chlorpyrifos	decreases expression	ISO	Helq (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of HELQ mRNA	CTD	PMID:37019170
HELQ	Human	choline	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HELQ gene	CTD	PMID:20938992
HELQ	Human	copper atom	multiple interactions	ISO	Helq (Rattus norvegicus)	6480464	[Copper co-treated with Dietary Sucrose] results in increased expression of HELQ mRNA	CTD	PMID:26033743
HELQ	Human	copper atom	increases expression	ISO	Helq (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of HELQ mRNA	CTD	PMID:26033743
HELQ	Human	copper(0)	multiple interactions	ISO	Helq (Rattus norvegicus)	6480464	[Copper co-treated with Dietary Sucrose] results in increased expression of HELQ mRNA	CTD	PMID:26033743
HELQ	Human	copper(0)	increases expression	ISO	Helq (Rattus norvegicus)	6480464	Copper deficiency results in increased expression of HELQ mRNA	CTD	PMID:26033743
HELQ	Human	coumarin	decreases phosphorylation	EXP		6480464	coumarin results in decreased phosphorylation of HELQ protein	CTD	PMID:35688186
HELQ	Human	crocidolite asbestos	increases expression	EXP		6480464	Asbestos and Crocidolite results in increased expression of HELQ mRNA	CTD	PMID:18687144
HELQ	Human	Cuprizon	increases expression	ISO	Helq (Rattus norvegicus)	6480464	Cuprizone results in increased expression of HELQ mRNA	CTD	PMID:27523638
HELQ	Human	cyclosporin A	decreases expression	EXP		6480464	Cyclosporine results in decreased expression of HELQ mRNA	CTD	PMID:20106945
HELQ	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HELQ mRNA	CTD	PMID:28628672
HELQ	Human	dicrotophos	decreases expression	EXP		6480464	dicrotophos results in decreased expression of HELQ mRNA	CTD	PMID:28302478
HELQ	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of HELQ mRNA	CTD	PMID:27188386
HELQ	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of HELQ mRNA	CTD	PMID:29803840
HELQ	Human	epoxiconazole	decreases expression	ISO	Helq (Mus musculus)	6480464	epoxiconazole results in decreased expression of HELQ mRNA	CTD	PMID:35436446
HELQ	Human	folic acid	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HELQ gene	CTD	PMID:20938992
HELQ	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of HELQ mRNA	CTD	PMID:23649840
HELQ	Human	hydrogen peroxide	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of HELQ protein	CTD	PMID:18951874
HELQ	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol F] results in increased expression of HELQ mRNA	CTD	PMID:28628672
HELQ	Human	iron dichloride	decreases expression	EXP		6480464	ferrous chloride results in decreased expression of HELQ mRNA	CTD	PMID:35984750
HELQ	Human	L-methionine	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of HELQ gene	CTD	PMID:20938992
HELQ	Human	leflunomide	increases expression	EXP		6480464	leflunomide results in increased expression of HELQ mRNA	CTD	PMID:28988120
HELQ	Human	maneb	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of HELQ mRNA	CTD	PMID:36117858
HELQ	Human	methoxychlor	affects methylation	ISO	Helq (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of HELQ gene	CTD	PMID:35440735
HELQ	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of HELQ mRNA	CTD	PMID:23649840
HELQ	Human	methylmercury chloride	decreases expression	EXP		6480464	methylmercuric chloride results in decreased expression of HELQ mRNA	CTD	PMID:28001369
HELQ	Human	N,N-diethyl-m-toluamide	multiple interactions	ISO	Helq (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in decreased methylation of HELQ gene	CTD	PMID:33148267
HELQ	Human	paracetamol	increases expression	ISO	Helq (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of HELQ mRNA	CTD	PMID:33387578
HELQ	Human	paraquat	multiple interactions	ISO	Helq (Mus musculus)	6480464	[Maneb co-treated with Paraquat] results in decreased expression of HELQ mRNA	CTD	PMID:36117858
HELQ	Human	permethrin	multiple interactions	ISO	Helq (Rattus norvegicus)	6480464	[Permethrin co-treated with DEET] results in decreased methylation of HELQ gene	CTD	PMID:33148267
HELQ	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of HELQ mRNA	CTD	PMID:23557933
HELQ	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of HELQ mRNA	CTD	PMID:27188386
HELQ	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of HELQ mRNA	CTD	PMID:38568856
HELQ	Human	T-2 toxin	increases expression	ISO	Helq (Rattus norvegicus)	6480464	T-2 Toxin results in increased expression of HELQ mRNA	CTD	PMID:26141394
HELQ	Human	theophylline	multiple interactions	EXP		6480464	[Hydrogen Peroxide co-treated with Theophylline] results in decreased expression of HELQ protein	CTD	PMID:18951874
HELQ	Human	thioacetamide	increases expression	ISO	Helq (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of HELQ mRNA	CTD	PMID:23411599
HELQ	Human	titanium dioxide	increases expression	ISO	Helq (Mus musculus)	6480464	titanium dioxide results in increased expression of HELQ mRNA	CTD	PMID:23557971
HELQ	Human	titanium dioxide	decreases methylation	ISO	Helq (Mus musculus)	6480464	titanium dioxide results in decreased methylation of HELQ gene	CTD	PMID:35295148
HELQ	Human	titanium dioxide	increases methylation	ISO	Helq (Mus musculus)	6480464	titanium dioxide results in increased methylation of HELQ gene	CTD	PMID:35295148
HELQ	Human	trichostatin A	increases expression	EXP		6480464	trichostatin A results in increased expression of HELQ mRNA	CTD	PMID:24935251
HELQ	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of HELQ mRNA	CTD	PMID:37042841
HELQ	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of HELQ gene	CTD	PMID:29154799
HELQ	Human	valproic acid	multiple interactions	EXP		6480464	[NOG protein co-treated with Valproic Acid co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of HELQ mRNA	CTD	PMID:27188386
HELQ	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of HELQ mRNA	CTD	PMID:24935251 and PMID:26272509
HELQ	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of HELQ mRNA	CTD	PMID:23179753
HELQ	Human	vinclozolin	decreases expression	ISO	Helq (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of HELQ mRNA	CTD	PMID:23555832

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)
HELQ	Human	DNA damage response	involved_in	IEA	UniProtKB-KW:KW-0227	150520179		UniProt	GO_REF:0000043
HELQ	Human	DNA double-strand break processing involved in repair via single-strand annealing	involved_in	IDA		150520179	PMID:34937945	UniProt	PMID:34937945
HELQ	Human	DNA repair	involved_in	IEA	UniProtKB-KW:KW-0234	150520179		UniProt	GO_REF:0000043
HELQ	Human	double-strand break repair via alternative nonhomologous end joining	involved_in	IDA		150520179	PMID:34937945	UniProt	PMID:34937945
HELQ	Human	double-strand break repair via homologous recombination	involved_in	IMP		150520179	PMID:19995904	UniProt	PMID:19995904
HELQ	Human	double-strand break repair via synthesis-dependent strand annealing	involved_in	IDA		150520179	PMID:34937945	UniProt	PMID:34937945
HELQ	Human	positive regulation of double-strand break repair via homologous recombination	involved_in	IEA	UniProtKB:Q2VPA6 and ensembl:ENSMUSP00000041599	150520179		Ensembl	GO_REF:0000107
HELQ	Human	positive regulation of double-strand break repair via homologous recombination	involved_in	ISS	UniProtKB:Q2VPA6	150520179		UniProt	GO_REF:0000024

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)
HELQ	Human	chromosome	located_in	IEA	UniProtKB-KW:KW-0158	150520179		UniProt	GO_REF:0000043
HELQ	Human	chromosome	located_in	IEA	UniProtKB-SubCell:SL-0468	150520179		UniProt	GO_REF:0000044
HELQ	Human	nucleus	is_active_in	IDA		150520179	PMID:34937945	UniProt	PMID:34937945
HELQ	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
HELQ	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
HELQ	Human	site of DNA damage	is_active_in	IDA		150520179	PMID:34937945	UniProt	PMID:34937945

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)
HELQ	Human	ATP binding	enables	IEA	InterPro:IPR011545	150520179		InterPro	GO_REF:0000002
HELQ	Human	ATP binding	enables	IEA	UniProtKB-KW:KW-0067	150520179		UniProt	GO_REF:0000043
HELQ	Human	ATP hydrolysis activity	enables	IEA	RHEA:13065	150520179		RHEA	GO_REF:0000116
HELQ	Human	DNA binding	enables	IEA	UniProtKB-KW:KW-0238	150520179		UniProt	GO_REF:0000043
HELQ	Human	helicase activity	enables	IEA	UniProtKB-KW:KW-0347	150520179		UniProt	GO_REF:0000043
HELQ	Human	hydrolase activity	enables	IEA	UniProtKB-KW:KW-0378	150520179		UniProt	GO_REF:0000043
HELQ	Human	nucleic acid binding	enables	IEA	InterPro:IPR011545	150520179		InterPro	GO_REF:0000002
HELQ	Human	nucleotide binding	enables	IEA	UniProtKB-KW:KW-0547	150520179		UniProt	GO_REF:0000043
HELQ	Human	protein binding	enables	IPI	UniProtKB:O43502	150520179	PMID:24005329	IntAct	PMID:24005329
HELQ	Human	single-stranded 3'-5' DNA helicase activity	enables	IDA		150520179	PMID:11751861 more ...	FlyBase	PMID:11751861 more ...

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889549	PMID:11751861	PMID:12477932	PMID:12794064	PMID:16344560	PMID:18029348	PMID:18270339	PMID:19995904	PMID:20379614	PMID:20800603	PMID:21398521	PMID:21437268
PMID:21873635	PMID:22267201	PMID:22939629	PMID:24005329	PMID:24005565	PMID:24658182	PMID:24981860	PMID:26190809	PMID:26351136	PMID:26871637	PMID:28000895	PMID:28738244
PMID:29572031	PMID:29883609	PMID:30686591	PMID:33485349	PMID:34316696	PMID:34672775	PMID:34937945	PMID:35559673	PMID:36718939	PMID:37777152	PMID:37897354	PMID:38540391
PMID:38720471

HELQ
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	83,407,346 - 83,455,883 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	83,407,343 - 83,455,855 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	84,328,499 - 84,377,036 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	84,547,523 - 84,596,049 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	4	81,618,948 - 81,667,478 (-)	NCBI		Celera
Cytogenetic Map	4	q21.23	NCBI
HuRef	4	80,071,300 - 80,119,800 (-)	NCBI		HuRef
CHM1_1	4	84,305,076 - 84,353,599 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	86,737,435 - 86,785,950 (-)	NCBI		T2T-CHM13v2.0

Helq
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	100,910,010 - 100,946,529 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	100,910,011 - 100,946,464 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	100,762,144 - 100,798,661 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	100,762,145 - 100,798,598 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	101,191,167 - 101,227,619 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	101,002,447 - 101,038,902 (-)	NCBI		MGSCv36	mm8
Celera	5	98,090,213 - 98,126,676 (-)	NCBI		Celera
Cytogenetic Map	5	E4	NCBI
cM Map	5	48.52	NCBI

Helq
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	9,122,978 - 9,167,310 (+)	NCBI		GRCr8
mRatBN7.2	14	8,818,582 - 8,862,926 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	8,818,592 - 8,862,960 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	8,786,509 - 8,836,501 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	10,086,357 - 10,136,345 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	8,782,970 - 8,832,966 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	10,446,981 - 10,491,042 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	10,446,993 - 10,491,190 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	10,394,947 - 10,439,008 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	10,102,501 - 10,137,153 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	14	8,927,629 - 8,971,937 (+)	NCBI		Celera
Cytogenetic Map	14	p22	NCBI

Helq
(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_004955474	6,281,231 - 6,322,615 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955474	6,280,955 - 6,322,702 (+)	NCBI	ChiLan1.0	ChiLan1.0

HELQ
(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	3	46,607,651 - 46,656,212 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	46,797,016 - 46,849,457 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	40,740,392 - 40,788,907 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	46,586,882 - 46,635,108 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	46,586,882 - 46,635,108 (+)	Ensembl	panpan1.1		panPan2

HELQ
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	32	7,245,867 - 7,290,138 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	32	7,245,230 - 7,290,014 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	32	34,595,411 - 34,639,694 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	32	7,267,433 - 7,311,664 (-)	NCBI		ROS_Cfam_1.0
UMICH_Zoey_3.1	32	7,337,423 - 7,380,288 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	32	7,206,724 - 7,251,379 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	32	32,710,331 - 32,754,719 (+)	NCBI		UU_Cfam_GSD_1.0

Helq
(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_024405285	5,062,206 - 5,104,054 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936738	1,224,312 - 1,265,786 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936738	1,224,072 - 1,265,887 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HELQ
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	135,026,315 - 135,061,043 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	135,026,117 - 135,061,051 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	144,322,634 - 144,357,373 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HELQ
(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	7	31,799,072 - 31,846,942 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	7	31,797,747 - 31,846,760 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	10,394,630 - 10,442,558 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Helq
(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_004624900	375,216 - 419,672 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624900	375,081 - 419,698 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in HELQ
111 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	copy number loss	See cases [RCV000050786]	Chr4:75453111..84094295 [GRCh38] Chr4:76378321..85015448 [GRCh37] Chr4:76597345..85234472 [NCBI36] Chr4:4q21.1-21.23	pathogenic
GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	copy number gain	See cases [RCV000051772]	Chr4:51831622..97505618 [GRCh38] Chr4:52697788..98426769 [GRCh37] Chr4:52392545..98645792 [NCBI36] Chr4:4q12-22.3	pathogenic
GRCh38/hg38 4q13.2-21.23(chr4:67869564-85517308)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053294]\|See cases [RCV000053294]	Chr4:67869564..85517308 [GRCh38] Chr4:68735282..86438461 [GRCh37] Chr4:68417877..86657485 [NCBI36] Chr4:4q13.2-21.23	pathogenic
GRCh38/hg38 4q13.3-22.1(chr4:74031395-90421127)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053296]\|See cases [RCV000053296]	Chr4:74031395..90421127 [GRCh38] Chr4:74897112..91342278 [GRCh37] Chr4:75115976..91561301 [NCBI36] Chr4:4q13.3-22.1	pathogenic
GRCh38/hg38 4q21.21-22.1(chr4:79575748-92412449)x1	copy number loss	See cases [RCV000053297]	Chr4:79575748..92412449 [GRCh38] Chr4:80496902..93333600 [GRCh37] Chr4:80715926..93552623 [NCBI36] Chr4:4q21.21-22.1	pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81733333-83448842)x1	copy number loss	See cases [RCV000053299]	Chr4:81733333..83448842 [GRCh38] Chr4:82654487..84369995 [GRCh37] Chr4:82873511..84589019 [NCBI36] Chr4:4q21.22-21.23	pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81802008-83437114)x1	copy number loss	See cases [RCV000053300]	Chr4:81802008..83437114 [GRCh38] Chr4:82723161..84358267 [GRCh37] Chr4:82942185..84577291 [NCBI36] Chr4:4q21.22-21.23	pathogenic
GRCh38/hg38 4q21.22-21.3(chr4:82248692-86778340)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053319]\|See cases [RCV000053319]	Chr4:82248692..86778340 [GRCh38] Chr4:83169845..87699493 [GRCh37] Chr4:83388869..87918517 [NCBI36] Chr4:4q21.22-21.3	pathogenic
NM_133636.3(HELQ):c.25C>T (p.Arg9Cys)	single nucleotide variant	Malignant melanoma [RCV000061060]	Chr4:83455669 [GRCh38] Chr4:84376822 [GRCh37] Chr4:84595846 [NCBI36] Chr4:4q21.23	not provided
GRCh38/hg38 4q21.21-22.3(chr4:80879777-94809447)x1	copy number loss	See cases [RCV000134977]	Chr4:80879777..94809447 [GRCh38] Chr4:81800931..95730598 [GRCh37] Chr4:82019955..95949621 [NCBI36] Chr4:4q21.21-22.3	pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:79786514-85832807)x1	copy number loss	See cases [RCV000136865]	Chr4:79786514..85832807 [GRCh38] Chr4:80707668..86753960 [GRCh37] Chr4:80926692..86972984 [NCBI36] Chr4:4q21.21-21.23	pathogenic
GRCh38/hg38 4q21.21-24(chr4:80427023-100855441)x1	copy number loss	See cases [RCV000137269]	Chr4:80427023..100855441 [GRCh38] Chr4:81348177..101776598 [GRCh37] Chr4:81567201..101995621 [NCBI36] Chr4:4q21.21-24	pathogenic
GRCh38/hg38 4q21.21-21.23(chr4:80908016-84329610)x1	copy number loss	See cases [RCV000137863]	Chr4:80908016..84329610 [GRCh38] Chr4:81829170..85250763 [GRCh37] Chr4:82048194..85469787 [NCBI36] Chr4:4q21.21-21.23	likely pathogenic
GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	copy number gain	See cases [RCV000138312]	Chr4:72262258..86002147 [GRCh38] Chr4:73127975..86923300 [GRCh37] Chr4:73346839..87142324 [NCBI36] Chr4:4q13.3-21.3	pathogenic
GRCh38/hg38 4q21.21-21.3(chr4:80043949-86948317)x1	copy number loss	See cases [RCV000140416]	Chr4:80043949..86948317 [GRCh38] Chr4:80965103..87869469 [GRCh37] Chr4:81184127..88088493 [NCBI36] Chr4:4q21.21-21.3	pathogenic
GRCh38/hg38 4q21.22-21.23(chr4:81675848-83970410)x1	copy number loss	See cases [RCV000143321]	Chr4:81675848..83970410 [GRCh38] Chr4:82597002..84891563 [GRCh37] Chr4:82816026..85110587 [NCBI36] Chr4:4q21.22-21.23	likely pathogenic
GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	copy number gain	See cases [RCV000143458]	Chr4:68686088..95294456 [GRCh38] Chr4:69551806..96215607 [GRCh37] Chr4:69234401..96434630 [NCBI36] Chr4:4q13.2-22.3	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82283358-90341831)x1	copy number loss	See cases [RCV000447691]	Chr4:82283358..90341831 [GRCh37] Chr4:4q21.21-22.1	pathogenic
GRCh37/hg19 4q21.23(chr4:84317758-85090749)x1	copy number loss	See cases [RCV000447752]	Chr4:84317758..85090749 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:83954528-85807754)x1	copy number loss	See cases [RCV000510348]	Chr4:83954528..85807754 [GRCh37] Chr4:4q21.22-21.23	uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1	copy number loss	not provided [RCV000682426]	Chr4:81314915..96636651 [GRCh37] Chr4:4q21.21-22.3	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
NM_133636.5(HELQ):c.106C>T (p.Pro36Ser)	single nucleotide variant	HELQ-related disorder [RCV003905828]\|not provided [RCV000961135]	Chr4:83455588 [GRCh38] Chr4:84376741 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.53A>G (p.Asn18Ser)	single nucleotide variant	HELQ-related disorder [RCV003926215]\|not provided [RCV000963613]	Chr4:83455641 [GRCh38] Chr4:84376794 [GRCh37] Chr4:4q21.23	benign\|likely benign
GRCh37/hg19 4q13.3-21.23(chr4:72680879-86426232)x1	copy number loss	not provided [RCV001005556]	Chr4:72680879..86426232 [GRCh37] Chr4:4q13.3-21.23	pathogenic
GRCh37/hg19 4q21.22-21.23(chr4:82593140-85651685)x1	copy number loss	not provided [RCV001005566]	Chr4:82593140..85651685 [GRCh37] Chr4:4q21.22-21.23	pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:82043901-88334228)	copy number loss	not provided [RCV000767792]	Chr4:82043901..88334228 [GRCh37] Chr4:4q21.21-22.1	pathogenic
NM_133636.5(HELQ):c.1192A>G (p.Ile398Val)	single nucleotide variant	not specified [RCV004292453]	Chr4:83447035 [GRCh38] Chr4:84368188 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.23(chr4:84294408-84427489)x1	copy number loss	not provided [RCV000846714]	Chr4:84294408..84427489 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.21-22.1(chr4:80482400-92572499)x1	copy number loss	See cases [RCV000790579]	Chr4:80482400..92572499 [GRCh37] Chr4:4q21.21-22.1	pathogenic
GRCh37/hg19 4q21.1-21.23(chr4:78769297-84968832)x1	copy number loss	not provided [RCV000846933]	Chr4:78769297..84968832 [GRCh37] Chr4:4q21.1-21.23	pathogenic
NM_133636.5(HELQ):c.1069T>C (p.Tyr357His)	single nucleotide variant	not specified [RCV004305211]	Chr4:83448905 [GRCh38] Chr4:84370058 [GRCh37] Chr4:4q21.23	uncertain significance
Single allele	deletion	Chromosome 4q21 deletion syndrome [RCV001172266]	Chr4:83196931..85540706 [GRCh37] Chr4:4q21.22-21.23	pathogenic
GRCh37/hg19 4q21.23(chr4:84142481-84840424)x3	copy number gain	not provided [RCV002473659]	Chr4:84142481..84840424 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.22-21.23(chr4:84053945-85081980)x3	copy number gain	See cases [RCV001194563]	Chr4:84053945..85081980 [GRCh37] Chr4:4q21.22-21.23	uncertain significance
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1	copy number loss	See cases [RCV001263040]	Chr4:71412409..87920784 [GRCh37] Chr4:4q13.3-21.3	pathogenic
GRCh37/hg19 4q21.23(chr4:84317758-85090749)	copy number loss	not specified [RCV002053439]	Chr4:84317758..85090749 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q13.3-22.1(chr4:75737340-91131156)	copy number gain	not specified [RCV002053429]	Chr4:75737340..91131156 [GRCh37] Chr4:4q13.3-22.1	pathogenic
GRCh37/hg19 4q21.21-22.2(chr4:79780152-94873225)	copy number loss	not specified [RCV002053432]	Chr4:79780152..94873225 [GRCh37] Chr4:4q21.21-22.2	pathogenic
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3	copy number gain	not provided [RCV001827738]	Chr4:52866944..143582507 [GRCh37] Chr4:4q12-31.21	pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:80467886-93362064)x1	copy number loss	not provided [RCV001829208]	Chr4:80467886..93362064 [GRCh37] Chr4:4q21.21-22.1	pathogenic
GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421)	copy number loss	not specified [RCV002053435]	Chr4:81054789..90667421 [GRCh37] Chr4:4q21.21-22.1	pathogenic
GRCh37/hg19 4q21.23(chr4:84134525-84984297)	copy number loss	not specified [RCV002053438]	Chr4:84134525..84984297 [GRCh37] Chr4:4q21.23	uncertain significance
NC_000004.11:g.(?_84185352)_(84406225_?)del	deletion	not provided [RCV003119650]	Chr4:84185352..84406225 [GRCh37] Chr4:4q21.23	pathogenic
NM_133636.5(HELQ):c.1823A>G (p.His608Arg)	single nucleotide variant	not specified [RCV004308262]	Chr4:83437083 [GRCh38] Chr4:84358236 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.22-21.23(chr4:84048377-84744105)x1	copy number loss	See cases [RCV002287566]	Chr4:84048377..84744105 [GRCh37] Chr4:4q21.22-21.23	pathogenic
NM_133636.5(HELQ):c.1772A>G (p.Glu591Gly)	single nucleotide variant	not specified [RCV004103064]	Chr4:83439899 [GRCh38] Chr4:84361052 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.776T>G (p.Met259Arg)	single nucleotide variant	not specified [RCV004210042]	Chr4:83453467 [GRCh38] Chr4:84374620 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3277G>A (p.Ala1093Thr)	single nucleotide variant	not specified [RCV004187219]	Chr4:83407482 [GRCh38] Chr4:84328635 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.901G>T (p.Val301Phe)	single nucleotide variant	not specified [RCV004222943]	Chr4:83453342 [GRCh38] Chr4:84374495 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2909G>C (p.Gly970Ala)	single nucleotide variant	not specified [RCV004149545]	Chr4:83421603 [GRCh38] Chr4:84342756 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1945A>G (p.Ser649Gly)	single nucleotide variant	not specified [RCV004235928]	Chr4:83436961 [GRCh38] Chr4:84358114 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.265C>T (p.His89Tyr)	single nucleotide variant	not specified [RCV004169692]	Chr4:83455429 [GRCh38] Chr4:84376582 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2836A>C (p.Lys946Gln)	single nucleotide variant	not specified [RCV004163757]	Chr4:83421676 [GRCh38] Chr4:84342829 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1043C>T (p.Ser348Phe)	single nucleotide variant	not specified [RCV004230879]	Chr4:83448931 [GRCh38] Chr4:84370084 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.416A>T (p.His139Leu)	single nucleotide variant	not specified [RCV004091638]	Chr4:83453827 [GRCh38] Chr4:84374980 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.136A>G (p.Met46Val)	single nucleotide variant	not specified [RCV004202369]	Chr4:83455558 [GRCh38] Chr4:84376711 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2798A>G (p.Asn933Ser)	single nucleotide variant	not specified [RCV004115823]	Chr4:83421714 [GRCh38] Chr4:84342867 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2782G>A (p.Asp928Asn)	single nucleotide variant	not specified [RCV004147756]	Chr4:83421730 [GRCh38] Chr4:84342883 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1867A>C (p.Ile623Leu)	single nucleotide variant	not specified [RCV004109263]	Chr4:83437039 [GRCh38] Chr4:84358192 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3159A>T (p.Leu1053Phe)	single nucleotide variant	not specified [RCV004090558]	Chr4:83416770 [GRCh38] Chr4:84337923 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.682C>T (p.His228Tyr)	single nucleotide variant	not specified [RCV004217671]	Chr4:83453561 [GRCh38] Chr4:84374714 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2647A>G (p.Asn883Asp)	single nucleotide variant	not specified [RCV004082288]	Chr4:83427592 [GRCh38] Chr4:84348745 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.475A>G (p.Ile159Val)	single nucleotide variant	not specified [RCV004106738]	Chr4:83453768 [GRCh38] Chr4:84374921 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1988T>C (p.Val663Ala)	single nucleotide variant	not specified [RCV004182996]	Chr4:83436918 [GRCh38] Chr4:84358071 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3125A>G (p.Asn1042Ser)	single nucleotide variant	not specified [RCV004174647]	Chr4:83416804 [GRCh38] Chr4:84337957 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3108G>A (p.Met1036Ile)	single nucleotide variant	not specified [RCV004221057]	Chr4:83416821 [GRCh38] Chr4:84337974 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.961A>G (p.Ser321Gly)	single nucleotide variant	not specified [RCV004275567]	Chr4:83453282 [GRCh38] Chr4:84374435 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.499G>A (p.Glu167Lys)	single nucleotide variant	not specified [RCV004275408]	Chr4:83453744 [GRCh38] Chr4:84374897 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.931A>G (p.Asn311Asp)	single nucleotide variant	not specified [RCV004273133]	Chr4:83453312 [GRCh38] Chr4:84374465 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.479C>A (p.Thr160Asn)	single nucleotide variant	not specified [RCV004254609]	Chr4:83453764 [GRCh38] Chr4:84374917 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2419A>G (p.Thr807Ala)	single nucleotide variant	not specified [RCV004273436]	Chr4:83429623 [GRCh38] Chr4:84350776 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1909C>G (p.Pro637Ala)	single nucleotide variant	not specified [RCV004273377]	Chr4:83436997 [GRCh38] Chr4:84358150 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2489T>C (p.Ile830Thr)	single nucleotide variant	not specified [RCV004259007]	Chr4:83429553 [GRCh38] Chr4:84350706 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.19C>T (p.Arg7Cys)	single nucleotide variant	not specified [RCV004296554]	Chr4:83455675 [GRCh38] Chr4:84376828 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2620A>G (p.Thr874Ala)	single nucleotide variant	not specified [RCV004258459]	Chr4:83427619 [GRCh38] Chr4:84348772 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh38/hg38 4q21.21-23(chr4:79123548-99457773)x1	copy number loss	Chromosome 4q21 deletion syndrome [RCV003327709]	Chr4:79123548..99457773 [GRCh38] Chr4:4q21.21-23	pathogenic
NM_133636.5(HELQ):c.1505A>G (p.Asn502Ser)	single nucleotide variant	not specified [RCV004349793]	Chr4:83443575 [GRCh38] Chr4:84364728 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.691G>T (p.Val231Leu)	single nucleotide variant	not specified [RCV004353058]	Chr4:83453552 [GRCh38] Chr4:84374705 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1925A>G (p.Tyr642Cys)	single nucleotide variant	not specified [RCV004342782]	Chr4:83436981 [GRCh38] Chr4:84358134 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.523G>A (p.Glu175Lys)	single nucleotide variant	not specified [RCV004337496]	Chr4:83453720 [GRCh38] Chr4:84374873 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.658G>A (p.Glu220Lys)	single nucleotide variant	not specified [RCV004337497]	Chr4:83453585 [GRCh38] Chr4:84374738 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.22-21.23(chr4:84048378-84973081)x3	copy number gain	not provided [RCV003484186]	Chr4:84048378..84973081 [GRCh37] Chr4:4q21.22-21.23	uncertain significance
NM_133636.5(HELQ):c.2679T>C (p.Phe893=)	single nucleotide variant	HELQ-related disorder [RCV003919191]\|not provided [RCV003439372]	Chr4:83426090 [GRCh38] Chr4:84347243 [GRCh37] Chr4:4q21.23	likely benign
GRCh37/hg19 4q21.21-22.3(chr4:81558759-95965995)x1	copy number loss	not specified [RCV003986493]	Chr4:81558759..95965995 [GRCh37] Chr4:4q21.21-22.3	pathogenic
NM_133636.5(HELQ):c.3280G>A (p.Val1094Met)	single nucleotide variant	HELQ-related disorder [RCV003917018]	Chr4:83407479 [GRCh38] Chr4:84328632 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1753C>T (p.Pro585Ser)	single nucleotide variant	HELQ-related disorder [RCV003976431]	Chr4:83439918 [GRCh38] Chr4:84361071 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1004A>C (p.Lys335Thr)	single nucleotide variant	HELQ-related disorder [RCV003957098]	Chr4:83453239 [GRCh38] Chr4:84374392 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1059A>G (p.Lys353=)	single nucleotide variant	HELQ-related disorder [RCV003944775]	Chr4:83448915 [GRCh38] Chr4:84370068 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.376C>T (p.Leu126=)	single nucleotide variant	HELQ-related disorder [RCV003959218]	Chr4:83453867 [GRCh38] Chr4:84375020 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1808+10T>C	single nucleotide variant	HELQ-related disorder [RCV003981590]	Chr4:83439853 [GRCh38] Chr4:84361006 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1654A>C (p.Asn552His)	single nucleotide variant	HELQ-related disorder [RCV003944587]	Chr4:83441313 [GRCh38] Chr4:84362466 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1012+51T>C	single nucleotide variant	HELQ-related disorder [RCV003967257]	Chr4:83453180 [GRCh38] Chr4:84374333 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.381A>G (p.Glu127=)	single nucleotide variant	HELQ-related disorder [RCV003921942]	Chr4:83453862 [GRCh38] Chr4:84375015 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1662+7T>C	single nucleotide variant	HELQ-related disorder [RCV003916806]	Chr4:83441298 [GRCh38] Chr4:84362451 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.224T>A (p.Leu75His)	single nucleotide variant	HELQ-related disorder [RCV003917065]	Chr4:83455470 [GRCh38] Chr4:84376623 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.47A>G (p.Lys16Arg)	single nucleotide variant	HELQ-related disorder [RCV003937373]	Chr4:83455647 [GRCh38] Chr4:84376800 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.108C>G (p.Pro36=)	single nucleotide variant	HELQ-related disorder [RCV003929739]	Chr4:83455586 [GRCh38] Chr4:84376739 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1901G>A (p.Arg634His)	single nucleotide variant	HELQ-related disorder [RCV003932163]	Chr4:83437005 [GRCh38] Chr4:84358158 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.2627A>T (p.Tyr876Phe)	single nucleotide variant	HELQ-related disorder [RCV003922108]	Chr4:83427612 [GRCh38] Chr4:84348765 [GRCh37] Chr4:4q21.23	benign
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	copy number gain	not provided [RCV003885507]	Chr4:45455621..191003541 [GRCh37] Chr4:4p12-q35.2	pathogenic
NM_133636.5(HELQ):c.704T>C (p.Leu235Pro)	single nucleotide variant	HELQ-related disorder [RCV003973943]	Chr4:83453539 [GRCh38] Chr4:84374692 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1482T>C (p.Ile494=)	single nucleotide variant	HELQ-related disorder [RCV003974353]	Chr4:83443598 [GRCh38] Chr4:84364751 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1662+6A>G	single nucleotide variant	HELQ-related disorder [RCV003981209]	Chr4:83441299 [GRCh38] Chr4:84362452 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.2115T>G (p.Ile705Met)	single nucleotide variant	HELQ-related disorder [RCV003906939]	Chr4:83432201 [GRCh38] Chr4:84353354 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1428A>C (p.Thr476=)	single nucleotide variant	HELQ-related disorder [RCV003941948]	Chr4:83446051 [GRCh38] Chr4:84367204 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.2776-8C>G	single nucleotide variant	HELQ-related disorder [RCV003914704]	Chr4:83421744 [GRCh38] Chr4:84342897 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.150C>T (p.Asn50=)	single nucleotide variant	HELQ-related disorder [RCV003911759]	Chr4:83455544 [GRCh38] Chr4:84376697 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1036T>C (p.Leu346=)	single nucleotide variant	HELQ-related disorder [RCV003977260]	Chr4:83448938 [GRCh38] Chr4:84370091 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1470G>A (p.Thr490=)	single nucleotide variant	HELQ-related disorder [RCV003907088]	Chr4:83443610 [GRCh38] Chr4:84364763 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.2355G>A (p.Gln785=)	single nucleotide variant	HELQ-related disorder [RCV003951362]	Chr4:83429687 [GRCh38] Chr4:84350840 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.2325T>C (p.His775=)	single nucleotide variant	HELQ-related disorder [RCV003973981]	Chr4:83429717 [GRCh38] Chr4:84350870 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.1192-4C>G	single nucleotide variant	HELQ-related disorder [RCV003952290]	Chr4:83447039 [GRCh38] Chr4:84368192 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.1646G>A (p.Arg549His)	single nucleotide variant	HELQ-related disorder [RCV003954305]	Chr4:83441321 [GRCh38] Chr4:84362474 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.2524A>G (p.Ile842Val)	single nucleotide variant	not specified [RCV004403925]	Chr4:83427715 [GRCh38] Chr4:84348868 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.916G>A (p.Val306Ile)	single nucleotide variant	HELQ-related disorder [RCV003982500]	Chr4:83453327 [GRCh38] Chr4:84374480 [GRCh37] Chr4:4q21.23	benign
NM_133636.5(HELQ):c.16T>G (p.Ser6Ala)	single nucleotide variant	not specified [RCV004403920]	Chr4:83455678 [GRCh38] Chr4:84376831 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1780G>A (p.Ala594Thr)	single nucleotide variant	not specified [RCV004403921]	Chr4:83439891 [GRCh38] Chr4:84361044 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2075C>G (p.Ala692Gly)	single nucleotide variant	not specified [RCV004403922]	Chr4:83432241 [GRCh38] Chr4:84353394 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2417T>C (p.Leu806Pro)	single nucleotide variant	not specified [RCV004403923]	Chr4:83429625 [GRCh38] Chr4:84350778 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3215A>G (p.Lys1072Arg)	single nucleotide variant	not specified [RCV004403928]	Chr4:83407544 [GRCh38] Chr4:84328697 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.445T>A (p.Cys149Ser)	single nucleotide variant	not specified [RCV004403929]	Chr4:83453798 [GRCh38] Chr4:84374951 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.481A>G (p.Thr161Ala)	single nucleotide variant	not specified [RCV004403930]	Chr4:83453762 [GRCh38] Chr4:84374915 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.54C>G (p.Asn18Lys)	single nucleotide variant	not specified [RCV004403932]	Chr4:83455640 [GRCh38] Chr4:84376793 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.5A>G (p.Asp2Gly)	single nucleotide variant	not specified [RCV004403933]	Chr4:83455689 [GRCh38] Chr4:84376842 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.749C>A (p.Ser250Tyr)	single nucleotide variant	not specified [RCV004403934]	Chr4:83453494 [GRCh38] Chr4:84374647 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.781A>G (p.Arg261Gly)	single nucleotide variant	not specified [RCV004403935]	Chr4:83453462 [GRCh38] Chr4:84374615 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3111C>G (p.His1037Gln)	single nucleotide variant	not specified [RCV004626166]	Chr4:83416818 [GRCh38] Chr4:84337971 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1874A>G (p.Asn625Ser)	single nucleotide variant	not specified [RCV004626167]	Chr4:83437032 [GRCh38] Chr4:84358185 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.3067C>G (p.Arg1023Gly)	single nucleotide variant	not specified [RCV004626168]	Chr4:83416862 [GRCh38] Chr4:84338015 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2021C>T (p.Ala674Val)	single nucleotide variant	not specified [RCV004626169]	Chr4:83436885 [GRCh38] Chr4:84358038 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1934G>A (p.Ser645Asn)	single nucleotide variant	not specified [RCV004630325]	Chr4:83436972 [GRCh38] Chr4:84358125 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1484G>C (p.Gly495Ala)	single nucleotide variant	not specified [RCV004630328]	Chr4:83443596 [GRCh38] Chr4:84364749 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1924T>C (p.Tyr642His)	single nucleotide variant	not specified [RCV004630326]	Chr4:83436982 [GRCh38] Chr4:84358135 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1987G>A (p.Val663Met)	single nucleotide variant	not specified [RCV004630329]	Chr4:83436919 [GRCh38] Chr4:84358072 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3022G>A (p.Ala1008Thr)	single nucleotide variant	not specified [RCV004630330]	Chr4:83418134 [GRCh38] Chr4:84339287 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2128C>T (p.Arg710Cys)	single nucleotide variant	not specified [RCV004630331]	Chr4:83432188 [GRCh38] Chr4:84353341 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1301A>T (p.Tyr434Phe)	single nucleotide variant	not specified [RCV004630332]	Chr4:83446926 [GRCh38] Chr4:84368079 [GRCh37] Chr4:4q21.23	uncertain significance
GRCh37/hg19 4q21.23(chr4:84288749-84952657)x3	copy number gain	not provided [RCV004819479]	Chr4:84288749..84952657 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2648A>G (p.Asn883Ser)	single nucleotide variant	not specified [RCV004931136]	Chr4:83427591 [GRCh38] Chr4:84348744 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2716A>G (p.Ile906Val)	single nucleotide variant	not specified [RCV004931137]	Chr4:83426053 [GRCh38] Chr4:84347206 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.739G>A (p.Asp247Asn)	single nucleotide variant	not specified [RCV004931138]	Chr4:83453504 [GRCh38] Chr4:84374657 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3127C>T (p.Pro1043Ser)	single nucleotide variant	not specified [RCV004931139]	Chr4:83416802 [GRCh38] Chr4:84337955 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.754A>G (p.Lys252Glu)	single nucleotide variant	not specified [RCV004931140]	Chr4:83453489 [GRCh38] Chr4:84374642 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.2146A>C (p.Ile716Leu)	single nucleotide variant	not specified [RCV004931141]	Chr4:83432170 [GRCh38] Chr4:84353323 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.3139G>A (p.Val1047Ile)	single nucleotide variant	not specified [RCV004931142]	Chr4:83416790 [GRCh38] Chr4:84337943 [GRCh37] Chr4:4q21.23	likely benign
NM_133636.5(HELQ):c.2461G>A (p.Glu821Lys)	single nucleotide variant	not specified [RCV004931143]	Chr4:83429581 [GRCh38] Chr4:84350734 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.63C>G (p.Ser21Arg)	single nucleotide variant	not specified [RCV004931144]	Chr4:83455631 [GRCh38] Chr4:84376784 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.370G>C (p.Asp124His)	single nucleotide variant	not specified [RCV004931145]	Chr4:83453873 [GRCh38] Chr4:84375026 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.178C>G (p.Pro60Ala)	single nucleotide variant	not specified [RCV004931146]	Chr4:83455516 [GRCh38] Chr4:84376669 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.331T>G (p.Tyr111Asp)	single nucleotide variant	not specified [RCV004931147]	Chr4:83453912 [GRCh38] Chr4:84375065 [GRCh37] Chr4:4q21.23	uncertain significance
NM_133636.5(HELQ):c.1064T>C (p.Leu355Ser)	single nucleotide variant	not specified [RCV004403919]	Chr4:83448910 [GRCh38] Chr4:84370063 [GRCh37] Chr4:4q21.23	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	824
Count of miRNA genes:	537
Interacting mature miRNAs:	572
Transcripts:	ENST00000295488, ENST00000440639, ENST00000508591, ENST00000510985, ENST00000512539, ENST00000515482
Prediction methods:	Miranda, Rnahybrid
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
407049046	GWAS698022_H	age at menopause QTL GWAS698022 (human)		2e-19	age at menopause		4	83452469	83452470	Human
597066960	GWAS1163034_H	age at menopause QTL GWAS1163034 (human)		4e-08	age at menopause		4	83443598	83443599	Human
597230241	GWAS1326315_H	age at menopause QTL GWAS1326315 (human)		6e-172	age at menopause		4	83446452	83446453	Human
597067406	GWAS1163480_H	age at menarche QTL GWAS1163480 (human)		7e-08	age at menarche		4	83452469	83452470	Human
597063743	GWAS1159817_H	age at menopause QTL GWAS1159817 (human)		9e-23	age at menopause		4	83452469	83452470	Human
597204546	GWAS1300620_H	upper aerodigestive tract neoplasm QTL GWAS1300620 (human)		0.000005	upper aerodigestive tract neoplasm		4	83430000	83430001	Human
597336401	GWAS1432475_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1432475 (human)		1e-13	severe acute respiratory syndrome, COVID-19		4	83410615	83410616	Human
407026905	GWAS675881_H	upper aerodigestive tract neoplasm QTL GWAS675881 (human)		1e-08	upper aerodigestive tract neoplasm		4	83453327	83453328	Human

D6S1576

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	29,008,444 - 29,008,832	UniSTS	GRCh37
GRCh37	4	84,333,054 - 84,333,266	UniSTS	GRCh37
GRCh37	6	36,541,695 - 36,541,910	UniSTS	GRCh37
Build 36	6	36,649,673 - 36,649,888	RGD	NCBI36
Celera	6	30,614,554 - 30,614,942	UniSTS
Celera	6	38,096,741 - 38,096,956	RGD
Celera	4	81,623,503 - 81,623,715	UniSTS
Cytogenetic Map	6	p22.1	UniSTS
HuRef	6	28,815,847 - 28,816,235	UniSTS
HuRef	19	50,789,361 - 50,789,946	UniSTS
HuRef	4	80,075,855 - 80,076,067	UniSTS
HuRef	6	36,260,597 - 36,260,812	UniSTS
Marshfield Genetic Map	6	50.75	RGD
Genethon Genetic Map	6	51.2	UniSTS
TNG Radiation Hybrid Map	6	19818.0	UniSTS
GeneMap99-GB4 RH Map	6	134.05	UniSTS

SHGC-36904

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	84,328,587 - 84,328,689	UniSTS	GRCh37
Build 36	4	84,547,611 - 84,547,713	RGD	NCBI36
Celera	4	81,619,036 - 81,619,138	RGD
Cytogenetic Map	4	q21.23	UniSTS
HuRef	4	80,071,388 - 80,071,490	UniSTS
TNG Radiation Hybrid Map	4	50096.0	UniSTS
Stanford-G3 RH Map	4	4591.0	UniSTS
NCBI RH Map	4	1028.0	UniSTS
GeneMap99-G3 RH Map	4	4575.0	UniSTS

D4S2520E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	84,328,622 - 84,328,708	UniSTS	GRCh37
Build 36	4	84,547,646 - 84,547,732	RGD	NCBI36
Celera	4	81,619,071 - 81,619,157	RGD
Cytogenetic Map	4	q21.23	UniSTS
HuRef	4	80,071,423 - 80,071,509	UniSTS
GeneMap99-GB4 RH Map	4	448.81	UniSTS
NCBI RH Map	4	998.5	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	4973	1726	2351	6	624	1951	465	2269	7306	6472	53	3734	1	852	1744	1617	174	1


RefSeq Transcripts	NM_001297755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297757	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001297759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_133636	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_123737	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA150438	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC096768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF436845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI627810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK126255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128665	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK308395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK312725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL512702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065814	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095473	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC111502	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM986846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK000270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK905810	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB081240	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KU178846	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000295488 ⟹ ENSP00000295488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,407,346 - 83,455,823 (-)	Ensembl

Ensembl Acc Id:

ENST00000440639

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,453,757 - 83,455,823 (-)	Ensembl

Ensembl Acc Id:

ENST00000508591 ⟹ ENSP00000424186

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,407,343 - 83,455,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000510985 ⟹ ENSP00000424539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,407,373 - 83,455,823 (-)	Ensembl

Ensembl Acc Id:

ENST00000512539

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,407,367 - 83,427,726 (-)	Ensembl

Ensembl Acc Id:

ENST00000515482

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	83,453,720 - 83,455,855 (-)	Ensembl

RefSeq Acc Id:

NM_001297755 ⟹ NP_001284684

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,407,346 - 83,455,823 (-)	NCBI
CHM1_1	4	84,305,073 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,737,435 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCCCTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAGCTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTACAGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGACATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTGCTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTTTGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAACTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGCGAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTACCCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACA
TACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGTGGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATG
TTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGTTGCACATGATTGGTGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACGACTCAAATT
ATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAGCAGAATATTATACCAGTCAATTTAGACCAGTTGAGTTAAAAGAATATCTGAAAATAAATGATACAATATATGA
AGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTGACAGAAGTTATTCCCAATTATT
CCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATGTGAGGTGATTAAGAACTTGAAG
AATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGGAGGCCTACTCCACAGGAGTGCT
CTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAATCAATATAAACAGATGATTGGCA
GAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTGTTACAGCCATCTTGTTCAGGAA
TTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTCAGCAAAAGGTTTTATTGAAAGA
AAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAATTTTCATATTACAAAGTTGGGAC
GTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAATCTACCTAACAACCCCCTATGAT
CTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCTTTATTGGGAAGAAAGCATCAGG
CCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAAAAATTTAATATGCCTCGAGGAT
ATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACTTACCAAGAAGCTGACTTACTGT
GTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATGCAAATCCTGAAGTGCTCGTAAG
GACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTACTAAGATTGCCTTCTGATTTCC
CTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACTTTATAAATGAAAAAATACATTT
CAGTTATACATTAA

hide sequence

RefSeq Acc Id:

NM_001297756 ⟹ NP_001284685

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,407,346 - 83,455,823 (-)	NCBI
CHM1_1	4	84,305,073 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,737,435 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACATACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATGTTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAAAGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGGTGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACG
ACTCAAATTATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAGCAGAATATTATACCAGTCAATTTAGACCAGTATGTACCTAAGGTTGAGTTAAAAGAATATCTGA
AAATAAATGATACAATATATGAAGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTG
ACAGAAGTTATTCCCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATG
TGAGGTGATTAAGAACTTGAAGAATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGG
AGGCCTACTCCACAGGAGTGCTCTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAAT
CAATATAAACAGATGATTGGCAGAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTG
TTACAGCCATCTTGTTCAGGAATTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTC
AGCAAAAGGTTTTATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAAT
TTTCATATTACAAAGTTGGGACGTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAAT
CTACCTAACAACCCCCTATGATCTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCT
TTATTGGGAAGAAAGCATCAGGCCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAA
AAATTTAATATGCCTCGAGGATATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACT
TACCAAGAAGCTGACTTACTGTGTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATG
CAAATCCTGAAGTGCTCGTAAGGACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTA
CTAAGATTGCCTTCTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACT
TTATAAATGAAAAAATACATTTCAGTTATACATTAA

hide sequence

RefSeq Acc Id:

NM_001297757 ⟹ NP_001284686

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,407,346 - 83,455,823 (-)	NCBI
CHM1_1	4	84,305,073 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,737,435 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACATACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATGTTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAAAGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGGTGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAGTTGA
GTTAAAAGAATATCTGAAAATAAATGATACAATATATGAAGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATC
ACTTGGTAGCATTGGTGACAGAAGTTATTCCCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACAT
AAGGAGAAAGAAAAATGTGAGGTGATTAAGAACTTGAAGAATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGA
AAGGAAACTCTTGGAGGAGGCCTACTCCACAGGAGTGCTCTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGG
AATTTTTAAAGAGGAATCAATATAAACAGATGATTGGCAGAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACT
AAACCATTGGAAAACTGTTACAGCCATCTTGTTCAGGAATTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGG
TACATTTTTTGGTGTTCAGCAAAAGGTTTTATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAG
AAGAGGTCCAATATAATTTTCATATTACAAAGTTGGGACGTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAA
AGCCTTCTTCATCTAATCTACCTAACAACCCCCTATGATCTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCT
TGGAGTCTCTGAAAGCTTTATTGGGAAGAAAGCATCAGGCCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACA
TTTGGACTGTATCTGAAAAATTTAATATGCCTCGAGGATATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGA
GCCCTTTTGGTAGAACTTACCAAGAAGCTGACTTACTGTGTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCT
AATGCACTTAGCTAATGCAAATCCTGAAGTGCTCGTAAGGACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAG
AAGAGGTAGAAGAGTTACTAAGATTGCCTTCTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTAT
TAAAGATAACTTATACTTTATAAATGAAAAAATACATTTCAGTTATACATTAA

hide sequence

RefSeq Acc Id:

NM_001297758 ⟹ NP_001284687

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,451,866 - 83,455,823 (-)	NCBI
CHM1_1	4	84,349,593 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,781,933 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGCCTA
ATGACAGTGAAGTGGACATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTT
GCCACTGAAAATCTTTGCTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGA
ACCTGGAGCTGATCTTTTGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACA
ACACTGTGAATGAGGAACTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAAT
GCCATGACTGGAAATGCGAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGG
TCCTTTTTATTCATTACCCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGGTAATGCTTTTTGCTGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGT
GCAAGTAAATAGAAGCAAATGCTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATCAGTGATCTCTCAGCCCCTTCCATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTC
ACAGTCACACTTATCAAACCAGTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTAATTCCTCATCTATAAGAAAGGGATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATG
CCAAATTCAATGTTGGTAATGATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAGTAAATTACCCCACTCTAATTCTGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTG
AGACGTCTAAACACAGTGTTACTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGATGCTATTGACTACACCCTTCTTGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTT
TTGACCCCGATTGTCTAGTAGAGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGTCTTCTCTACCAAAACCTAGCTGTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAA
GTCAGTTATTAGTAATACTGTTGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGCTACCTCTCCCCACGGGTGCATCCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCA
AAGCTAGACATCTTTAAAGACAGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGCTTCCTTGGGCCACTTTGGAAAAAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGC
TGATGAGCCAAGAAAAAAAATTGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACATTCAAAGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTG
TTTTAAGTGCAAAGAAGCAATAATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGGTCCTTGCATATATTTCAGATATGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGG
AGGGTCAGCCCCATCAACCTTCCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAATGATATGAAAACTTGGGTTCTTGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAA
CAAAGTCTAATAAAAGACTCTACAAGAA

hide sequence

RefSeq Acc Id:

NM_001297759 ⟹ NP_001284688

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,451,866 - 83,455,823 (-)	NCBI
CHM1_1	4	84,349,593 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,781,933 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGGTAATGCTTTTTGCTGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGTGCAAGTAAATAGAAGCA
AATGCTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATCAGTGATCTCTCAGCCCCTTCCATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTCACAGTCACACTTATCAA
ACCAGTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTAATTCCTCATCTATAAGAAAGGGATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATGCCAAATTCAATGTTGGT
AATGATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAGTAAATTACCCCACTCTAATTCTGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTGAGACGTCTAAACACAGT
GTTACTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGATGCTATTGACTACACCCTTCTTGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTTTTGACCCCGATTGTCTA
GTAGAGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGTCTTCTCTACCAAAACCTAGCTGTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAAGTCAGTTATTAGTAATA
CTGTTGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGCTACCTCTCCCCACGGGTGCATCCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCAAAGCTAGACATCTTTAA
AGACAGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGCTTCCTTGGGCCACTTTGGAAAAAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGCTGATGAGCCAAGAAAAA
AAATTGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACATTCAAAGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTGTTTTAAGTGCAAAGAAG
CAATAATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGGTCCTTGCATATATTTCAGATATGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGGAGGGTCAGCCCCATCAA
CCTTCCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAATGATATGAAAACTTGGGTTCTTGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAACAAAGTCTAATAAAAGA
CTCTACAAGAA

hide sequence

RefSeq Acc Id:

NM_133636 ⟹ NP_598375

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,407,346 - 83,455,823 (-)	NCBI
GRCh37	4	84,328,496 - 84,377,162 (-)	NCBI
Build 36	4	84,547,523 - 84,596,049 (-)	NCBI Archive
Celera	4	81,618,948 - 81,667,478 (-)	RGD
HuRef	4	80,071,300 - 80,119,800 (-)	RGD
CHM1_1	4	84,305,073 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,737,435 - 86,785,890 (-)	NCBI

Sequence:

show sequence

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAGGAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACATACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATGTTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAAAGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGGTGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACG
ACTCAAATTATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAGCAGAATATTATACCAGTCAATTTAGACCAGTTGAGTTAAAAGAATATCTGAAAATAAATGATAC
AATATATGAAGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTGACAGAAGTTATTC
CCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATGTGAGGTGATTAAG
AACTTGAAGAATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGGAGGCCTACTCCAC
AGGAGTGCTCTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAATCAATATAAACAGA
TGATTGGCAGAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTGTTACAGCCATCTT
GTTCAGGAATTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTCAGCAAAAGGTTTT
ATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAATTTTCATATTACAA
AGTTGGGACGTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAATCTACCTAACAACC
CCCTATGATCTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCTTTATTGGGAAGAA
AGCATCAGGCCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAAAAATTTAATATGC
CTCGAGGATATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACTTACCAAGAAGCTG
ACTTACTGTGTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATGCAAATCCTGAAGT
GCTCGTAAGGACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTACTAAGATTGCCTT
CTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACTTTATAAATGAAAA
AATACATTTCAGTTATACATTAA

hide sequence

RefSeq Acc Id:

NR_123737

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,451,866 - 83,455,883 (-)	NCBI
CHM1_1	4	84,349,593 - 84,353,610 (-)	NCBI
T2T-CHM13v2.0	4	86,781,933 - 86,785,950 (-)	NCBI

Sequence:

show sequence

ACGTGAGGCTTATGATTGGACAGGGTAGAAGTTTATGCGTGCTTCCGGTCCGCGAGCCCTGAGA
GCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCCCTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCAT
GGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAGCTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGAGCCCGGAGATGAGGGGAAAGAGGAGG
AGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTACAGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTC
CTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGGTACGGAGGACTTGGAACTTGAAACTGCAAACTTTTGGCATCCTTCCCAGATGCAAAGAGTTGACCAGTTTTATCGCCTTCGTTTACTT
CTCTCGTCTTCGTTACCACTGTTAATCGGCACTTAGGAGCCTAATGACAGTGAAGTGGACATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAA
ATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTGCTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATA
AGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTTTGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGT
GATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAACTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTC
AGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGCGAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTA
ATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTACCCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGGTAATGCTTTTTGC
TGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGTGCAAGTAAATAGAAGCAAATGCTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATCAGTGATCTCTCAGCCCCTTCC
ATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTCACAGTCACACTTATCAAACCAGTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTAATTCCTCATCTATAAGAAAGG
GATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATGCCAAATTCAATGTTGGTAATGATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAGTAAATTACCCCACTCTAATTC
TGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTGAGACGTCTAAACACAGTGTTACTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGATGCTATTGACTACACCCTTCT
TGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTTTTGACCCCGATTGTCTAGTAGAGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGTCTTCTCTACCAAAACCTAGCT
GTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAAGTCAGTTATTAGTAATACTGTTGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGCTACCTCTCCCCACGGGTGCAT
CCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCAAAGCTAGACATCTTTAAAGACAGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGCTTCCTTGGGCCACTTTGGAAA
AAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGCTGATGAGCCAAGAAAAAAAATTGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACATTCAA
AGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTGTTTTAAGTGCAAAGAAGCAATAATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGGTCCTTGCATATATTTCAGATA
TGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGGAGGGTCAGCCCCATCAACCTTCCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAATGATATGAAAACTTGGGTTCT
TGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAACAAAGTCTAATAAAAGACTCTACAAGAAAAAAAAAAAAAAA

hide sequence


Protein RefSeqs	NP_001284684	(Get FASTA)	NCBI Sequence Viewer
	NP_001284685	(Get FASTA)	NCBI Sequence Viewer
	NP_001284686	(Get FASTA)	NCBI Sequence Viewer
	NP_001284687	(Get FASTA)	NCBI Sequence Viewer
	NP_001284688	(Get FASTA)	NCBI Sequence Viewer
	NP_598375	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH15428	(Get FASTA)	NCBI Sequence Viewer
	AAH95473	(Get FASTA)	NCBI Sequence Viewer
	AAL85274	(Get FASTA)	NCBI Sequence Viewer
	ALQ34303	(Get FASTA)	NCBI Sequence Viewer
	ALQ34304	(Get FASTA)	NCBI Sequence Viewer
	BAC87559	(Get FASTA)	NCBI Sequence Viewer
	CAH56359	(Get FASTA)	NCBI Sequence Viewer
	EAX05934	(Get FASTA)	NCBI Sequence Viewer
	EAX05935	(Get FASTA)	NCBI Sequence Viewer
	EAX05936	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000295488
	ENSP00000295488.3
	ENSP00000424539
GenBank Protein	Q8TDG4	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_598375 ⟸ NM_133636
- Peptide Label:	isoform 1
- UniProtKB:	Q8TDG4 (UniProtKB/Swiss-Prot), Q6ZTS4 (UniProtKB/Swiss-Prot), Q6ZQX4 (UniProtKB/Swiss-Prot), Q659B8 (UniProtKB/Swiss-Prot), Q502W9 (UniProtKB/Swiss-Prot), Q05DF9 (UniProtKB/Swiss-Prot), Q96EX7 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQPLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFIAQVDDLEQ KYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTS SDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDV LMILPYVAIVQEKISGLSSFGIELGFFVEEYAGSKGRFPPTKRREKKSLYIATIEKGHSLVNSLIETGRIDSLGLVVVDELHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQKFLQA EYYTSQFRPVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGV AYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKGIQTLFLSLIGLKIAT NLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQL SPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGYIQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVLEGRA KQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFPGAVASSTDKA hide sequence

RefSeq Acc Id:	NP_001284684 ⟸ NM_001297755
- Peptide Label:	isoform 2
- UniProtKB:	E3W980 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQPLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFIAQVDDLEQ KYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTS SDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDV LMILPYVAIVQEKLHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQKFLQAEYYTSQFRPVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYS CLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGR AGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKGIQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGR ASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGY IQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVLEGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFP GAVASSTDKA hide sequence

RefSeq Acc Id:

NP_001284686 ⟸ NM_001297757

- Peptide Label:

isoform 4

- Sequence:

show sequence

MTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKH
KEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELIT
KPLENCYSHLVQEFTKGIQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKKGLEGLVLE
SLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGYIQNLLTGTASFSSCVLHFCEELEEFWVYR
ALLVELTKKLTYCVKAELIPLMEVTGVLEGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFPGAVASSTDKA

hide sequence

RefSeq Acc Id:

NP_001284685 ⟸ NM_001297756

- Peptide Label:

isoform 3

- Sequence:

show sequence

MLKTYKSFFKQNIIPVNLDQYVPKVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGN
GNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKG
IQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQ
CNPDWMIYFRQFSQLSPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGYIQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAE
LIPLMEVTGVLEGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFPGAVASSTDKA

hide sequence

RefSeq Acc Id:

NP_001284687 ⟸ NM_001297758

- Peptide Label:

isoform 5

- Sequence:

show sequence

MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEPNDSEVDMFGDYDSFTENSFIAQVDDLEQKYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNL
TELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTSSDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDT
LLSEEINVAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIEKLYGNAFCWNKKIFFLSLP

hide sequence

Protein Domains

Helicase ATP-binding Helicase C-terminal

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8TDG4-F1-model_v2	AlphaFold	Q8TDG4	1-1101	view protein structure

RGD ID:

6867888

Promoter ID:

EPDNEW_H7109

Type:

initiation region

Name:

HELQ_1

Description:

helicase, POLQ-like

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H7112

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	83,455,823 - 83,455,883	EPDNEW

RGD ID:

6802015

Promoter ID:

HG_KWN:48631

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:

OTTHUMT00000252810, OTTHUMT00000252820, UC003HOL.2, UC003HON.1, UC003HOO.1, UC003HOP.1, UC003HOQ.1, UC010IKB.1, UC010IKC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	84,595,731 - 84,596,231 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	HELQ	COSMIC
Ensembl Genes	ENSG00000163312	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000295488	ENTREZGENE
	ENST00000295488.8	UniProtKB/Swiss-Prot
	ENST00000510985	ENTREZGENE
Gene3D-CATH	1.10.3380.20	UniProtKB/Swiss-Prot
	3.40.50.300	UniProtKB/Swiss-Prot
	5' to 3' exonuclease, C-terminal subdomain	UniProtKB/Swiss-Prot
GTEx	ENSG00000163312	GTEx
HGNC ID	HGNC:18536	ENTREZGENE
Human Proteome Map	HELQ	Human Proteome Map
InterPro	DEAD/DEAH_box_helicase_dom	UniProtKB/Swiss-Prot
	Hel308/SKI2	UniProtKB/Swiss-Prot
	Helicase_ATP-bd	UniProtKB/Swiss-Prot
	Helicase_C	UniProtKB/Swiss-Prot
	HTH_61	UniProtKB/Swiss-Prot
	P-loop_NTPase	UniProtKB/Swiss-Prot
	POLQ-like_helical	UniProtKB/Swiss-Prot
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:113510	UniProtKB/Swiss-Prot
NCBI Gene	113510	ENTREZGENE
OMIM	606769	OMIM
PANTHER	DNA POLYMERASE THETA, PUTATIVE (AFU_ORTHOLOGUE AFUA_1G05260)-RELATED	UniProtKB/Swiss-Prot
	HELICASE POLQ-LIKE	UniProtKB/Swiss-Prot
Pfam	DEAD	UniProtKB/Swiss-Prot
	Helicase_C	UniProtKB/Swiss-Prot
	HTH_61	UniProtKB/Swiss-Prot
	POLQ_helical	UniProtKB/Swiss-Prot
PharmGKB	PA164720529	PharmGKB
PROSITE	HELICASE_ATP_BIND_1	UniProtKB/Swiss-Prot
	HELICASE_CTER	UniProtKB/Swiss-Prot
SMART	DEXDc	UniProtKB/Swiss-Prot
	HELICc	UniProtKB/Swiss-Prot
Superfamily-SCOP	Sec63 N-terminal domain-like	UniProtKB/Swiss-Prot
	SSF46785	UniProtKB/Swiss-Prot
	SSF52540	UniProtKB/Swiss-Prot
UniProt	A0A0S2Z5V3_HUMAN	UniProtKB/TrEMBL
	A0A0S2Z5X5_HUMAN	UniProtKB/TrEMBL
	E3W980	ENTREZGENE, UniProtKB/TrEMBL
	E3W982_HUMAN	UniProtKB/TrEMBL
	HELQ_HUMAN	UniProtKB/Swiss-Prot
	Q05DF9	ENTREZGENE
	Q502W9	ENTREZGENE
	Q659B8	ENTREZGENE
	Q6ZQX4	ENTREZGENE
	Q6ZTS4	ENTREZGENE
	Q8TDG4	ENTREZGENE
	Q96EX7	ENTREZGENE
UniProt Secondary	Q05DF9	UniProtKB/Swiss-Prot
	Q502W9	UniProtKB/Swiss-Prot
	Q659B8	UniProtKB/Swiss-Prot
	Q6ZQX4	UniProtKB/Swiss-Prot
	Q6ZTS4	UniProtKB/Swiss-Prot
	Q96EX7	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-06-20	HELQ	helicase, POLQ like	HELQ	helicase, POLQ-like	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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Imported Disease Annotations - ClinVar