HELQ (helicase, POLQ like) - Rat Genome Database

Name: HELQ
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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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

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

chromosome 4q21 deletion syndrome (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

2,2',4,4'-Tetrabromodiphenyl ether (ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-palmitoylglycerol (EXP)

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

acrylamide (EXP)

aflatoxin B1 (ISO)

amphetamine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

Bisphenol A diglycidyl ether (ISO)

bisphenol F (EXP)

chlorpyrifos (ISO)

choline (ISO)

copper atom (ISO)

copper(0) (ISO)

coumarin (EXP)

crocidolite asbestos (EXP)

Cuprizon (ISO)

cyclosporin A (EXP)

dexamethasone (EXP)

dicrotophos (EXP)

dorsomorphin (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

folic acid (ISO)

formaldehyde (EXP)

hydrogen peroxide (EXP)

indometacin (EXP)

iron dichloride (EXP)

L-methionine (ISO)

leflunomide (EXP)

maneb (ISO)

methoxychlor (ISO)

methyl methanesulfonate (EXP)

methylmercury chloride (EXP)

N,N-diethyl-m-toluamide (ISO)

paracetamol (ISO)

paraquat (ISO)

permethrin (ISO)

resveratrol (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

T-2 toxin (ISO)

theophylline (EXP)

thioacetamide (ISO)

titanium dioxide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin looping (IEA)

chromatin remodeling (IEA)

DNA double-strand break processing involved in repair via single-strand annealing (IDA)

DNA duplex unwinding (IEA)

DNA repair (IEA)

double-strand break repair via alternative nonhomologous end joining (IDA)

double-strand break repair via homologous recombination (IMP)

double-strand break repair via synthesis-dependent strand annealing (IDA)

positive regulation of double-strand break repair via homologous recombination (IEA,ISS)

Cellular Component

chromosome (IEA)

nucleus (IDA,IEA)

site of DNA damage (IDA)

Molecular Function

ATP binding (IEA)

ATP hydrolysis activity (IEA)

ATP-dependent H2AZ histone chaperone activity (IEA)

ATP-dependent H3-H4 histone complex chaperone activity (IEA)

chromatin extrusion motor activity (IEA)

cohesin loader activity (IEA)

DNA binding (IEA)

DNA clamp loader activity (IEA)

double-stranded DNA helicase activity (IEA)

forked DNA-dependent helicase activity (IEA)

four-way junction helicase activity (IEA)

helicase activity (IEA)

hydrolase activity (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

single-stranded 3'-5' DNA helicase activity (IDA,IEA)

References

References - curated

#	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

Additional References at PubMed

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

Genomics

Comparative Map Data

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

Variants in HELQ
88 total Variants

Clinical 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.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.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.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.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.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.1064T>C (p.Leu355Ser)	single nucleotide variant	not specified [RCV004403919]	Chr4:83448910 [GRCh38] Chr4:84370063 [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

miRNA Target Status

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.

QTLs in Region (GRCh38)

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
406964069	GWAS613045_H	severe acute respiratory syndrome, COVID-19 QTL GWAS613045 (human)		1e-13	severe acute respiratory syndrome, COVID-19		4	83410615	83410616	Human
406966789	GWAS615765_H	age at menopause QTL GWAS615765 (human)		6e-172	age at menopause		4	83446452	83446453	Human
407049046	GWAS698022_H	age at menopause QTL GWAS698022 (human)		2e-19	age at menopause		4	83452469	83452470	Human
407091157	GWAS740133_H	age at menopause QTL GWAS740133 (human)		4e-08	age at menopause		4	83443598	83443599	Human
406901147	GWAS550123_H	age at menopause QTL GWAS550123 (human)		9e-23	age at menopause		4	83452469	83452470	Human
407026905	GWAS675881_H	upper aerodigestive tract neoplasm QTL GWAS675881 (human)		1e-08	upper aerodigestive tract neoplasm		4	83453327	83453328	Human
407090895	GWAS739871_H	age at menarche QTL GWAS739871 (human)		7e-08	age at menarche		4	83452469	83452470	Human
407208442	GWAS857418_H	upper aerodigestive tract neoplasm QTL GWAS857418 (human)		0.000005	upper aerodigestive tract neoplasm		4	83430000	83430001	Human

Markers in Region

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

Expression

RNA-SEQ Expression

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

Sequence

Nucleotide Sequences


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

GAGAGCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCC
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACA
TACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATG
TTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGTTGCACATGATTGGTGAAGGAAG
CCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACGACTCAAATT
ATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAGCAGAATATT
ATACCAGTCAATTTAGACCAGTTGAGTTAAAAGAATATCTGAAAATAAATGATACAATATATGA
AGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGAT
ACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTGACAGAAGTTATTCCCAATTATT
CCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATT
TTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATGTGAGGTGATTAAGAACTTGAAG
AATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATC
ACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGGAGGCCTACTCCACAGGAGTGCT
CTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATT
TTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAATCAATATAAACAGATGATTGGCA
GAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAA
ACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTGTTACAGCCATCTTGTTCAGGAA
TTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTG
ATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTCAGCAAAAGGTTTTATTGAAAGA
AAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAA
AAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAATTTTCATATTACAAAGTTGGGAC
GTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAA
AGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAATCTACCTAACAACCCCCTATGAT
CTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAG
CAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCTTTATTGGGAAGAAAGCATCAGG
CCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTT
TATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAAAAATTTAATATGCCTCGAGGAT
ATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGA
GCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACTTACCAAGAAGCTGACTTACTGT
GTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGT
TATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATGCAAATCCTGAAGTGCTCGTAAG
GACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTG
CATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTACTAAGATTGCCTTCTGATTTCC
CTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGA
ATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACTTTATAAATGAAAAAATACATTT
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
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACA
TACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATG
TTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAA
AGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGG
TGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACG
ACTCAAATTATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAG
CAGAATATTATACCAGTCAATTTAGACCAGTATGTACCTAAGGTTGAGTTAAAAGAATATCTGA
AAATAAATGATACAATATATGAAGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCT
TCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTG
ACAGAAGTTATTCCCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATG
TAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATG
TGAGGTGATTAAGAACTTGAAGAATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACT
ATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGG
AGGCCTACTCCACAGGAGTGCTCTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAA
CCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAAT
CAATATAAACAGATGATTGGCAGAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCC
TCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTG
TTACAGCCATCTTGTTCAGGAATTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGT
TTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTC
AGCAAAAGGTTTTATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCT
GACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAAT
TTTCATATTACAAAGTTGGGACGTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACA
TTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAAT
CTACCTAACAACCCCCTATGATCTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGG
CAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCT
TTATTGGGAAGAAAGCATCAGGCCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAG
GCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAA
AAATTTAATATGCCTCGAGGATATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTT
GTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACT
TACCAAGAAGCTGACTTACTGTGTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTT
TTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATG
CAAATCCTGAAGTGCTCGTAAGGACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGT
TTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTA
CTAAGATTGCCTTCTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATC
TGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACT
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
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACA
TACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATG
TTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAA
AGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGG
TGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAGTTGA
GTTAAAAGAATATCTGAAAATAAATGATACAATATATGAAGTTGACAGCAAAGCTGAGAATGGC
ATGACTTTTTCACGTCTTCTTAATTATAAGTATTCTGATACCCTAAAAAAGATGGATCCTGATC
ACTTGGTAGCATTGGTGACAGAAGTTATTCCCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAA
GAAGAACTGTGAAAATGTAGCAGAAATGATATGCAAATTTTTAAGCAAGGAATATCTGAAACAT
AAGGAGAAAGAAAAATGTGAGGTGATTAAGAACTTGAAGAATATTGGCAATGGCAACCTGTGTC
CTGTTTTAAAGCGCACTATCCCATTTGGAGTTGCCTATCACCACAGTGGCTTAACAAGTGATGA
AAGGAAACTCTTGGAGGAGGCCTACTCCACAGGAGTGCTCTGTCTTTTTACCTGCACATCTACC
CTAGCGGCAGGTGTCAACCTACCAGCTCGAAGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGG
AATTTTTAAAGAGGAATCAATATAAACAGATGATTGGCAGAGCTGGTCGTGCTGGAATAGATAC
TATTGGGGAGAGTATCCTCATATTGCAAGAAAAAGACAAACAACAGGTATTGGAGTTAATAACT
AAACCATTGGAAAACTGTTACAGCCATCTTGTTCAGGAATTCACCAAGGGAATCCAAACATTAT
TTCTCTCTTTGATTGGTTTGAAGATTGCAACGAATCTTGATGACATCTATCATTTCATGAATGG
TACATTTTTTGGTGTTCAGCAAAAGGTTTTATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTT
GAATCACTTAGATACCTGACAGAAAAAGGACTCCTACAAAAAGACACTATTTATAAGTCTGAAG
AAGAGGTCCAATATAATTTTCATATTACAAAGTTGGGACGTGCTTCATTTAAGGGAACTATAGA
TTTAGCTTATTGTGACATTCTGTACAGAGACTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAA
AGCCTTCTTCATCTAATCTACCTAACAACCCCCTATGATCTGGTTTCACAGTGTAACCCTGATT
GGATGATATACTTCAGGCAGTTTAGCCAACTCAGTCCAGCAGAACAAAATGTAGCTGCCATTCT
TGGAGTCTCTGAAAGCTTTATTGGGAAGAAAGCATCAGGCCAAGCCATCGGAAAGAAGGTGGAC
AAGAACGTTGTCAACAGGCTATATCTGTCTTTTGTTCTTTATACCTTGCTCAAAGAGACCAACA
TTTGGACTGTATCTGAAAAATTTAATATGCCTCGAGGATATATACAAAATCTTCTCACTGGAAC
TGCCTCATTCTCATCTTGTGTGTTACATTTCTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGA
GCCCTTTTGGTAGAACTTACCAAGAAGCTGACTTACTGTGTAAAGGCAGAATTAATCCCTCTCA
TGGAAGTTACTGGAGTTTTAGAGGGTCGAGCAAAACAGTTATACAGTGCAGGTTACAAAAGTCT
AATGCACTTAGCTAATGCAAATCCTGAAGTGCTCGTAAGGACAATTGATCATTTATCAAGACGC
CAAGCCAAGCAAATTGTTTCATCAGCAAAGATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAG
AAGAGGTAGAAGAGTTACTAAGATTGCCTTCTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGA
CAAAGCATGAAGCTATCTGATGAGAATTTTCATATATGAATTATTTATTGTACATGTGTGTTAT
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
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGCCTA
ATGACAGTGAAGTGGACATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCA
AGTTGACGACCTGGAACAAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTT
GCCACTGAAAATCTTTGCTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACC
TTACTGAATTACAAACTGATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGA
ACCTGGAGCTGATCTTTTGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAG
AACTCTTCAAATGATTTGGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACA
ACACTGTGAATGAGGAACTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTC
TTCCAAAGTCAGAACTAGTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAAT
GCCATGACTGGAAATGCGAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACA
CTCTCCTATCTGAGGAAATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGG
TCCTTTTTATTCATTACCCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAA
TTATATGGTAATGCTTTTTGCTGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGT
GCAAGTAAATAGAAGCAAATGCTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATC
AGTGATCTCTCAGCCCCTTCCATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTC
ACAGTCACACTTATCAAACCAGTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTA
ATTCCTCATCTATAAGAAAGGGATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATG
CCAAATTCAATGTTGGTAATGATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAG
TAAATTACCCCACTCTAATTCTGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTG
AGACGTCTAAACACAGTGTTACTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGA
TGCTATTGACTACACCCTTCTTGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTT
TTGACCCCGATTGTCTAGTAGAGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGT
CTTCTCTACCAAAACCTAGCTGTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAA
GTCAGTTATTAGTAATACTGTTGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGC
TACCTCTCCCCACGGGTGCATCCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCA
AAGCTAGACATCTTTAAAGACAGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGC
TTCCTTGGGCCACTTTGGAAAAAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGC
TGATGAGCCAAGAAAAAAAATTGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAA
TTTGTGTTGGGCCACATTCAAAGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTG
TTTTAAGTGCAAAGAAGCAATAATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGG
TCCTTGCATATATTTCAGATATGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGG
AGGGTCAGCCCCATCAACCTTCCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAA
TGATATGAAAACTTGGGTTCTTGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAA
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
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGGTAATGCTTT
TTGCTGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGTGCAAGTAAATAGAAGCA
AATGCTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATCAGTGATCTCTCAGCCCC
TTCCATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTCACAGTCACACTTATCAA
ACCAGTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTAATTCCTCATCTATAAGA
AAGGGATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATGCCAAATTCAATGTTGGT
AATGATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAGTAAATTACCCCACTCTA
ATTCTGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTGAGACGTCTAAACACAGT
GTTACTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGATGCTATTGACTACACCC
TTCTTGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTTTTGACCCCGATTGTCTA
GTAGAGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGTCTTCTCTACCAAAACCT
AGCTGTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAAGTCAGTTATTAGTAATA
CTGTTGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGCTACCTCTCCCCACGGGT
GCATCCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCAAAGCTAGACATCTTTAA
AGACAGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGCTTCCTTGGGCCACTTTG
GAAAAAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGCTGATGAGCCAAGAAAAA
AAATTGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACAT
TCAAAGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTGTTTTAAGTGCAAAGAAG
CAATAATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGGTCCTTGCATATATTTCA
GATATGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGGAGGGTCAGCCCCATCAA
CCTTCCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAATGATATGAAAACTTGGG
TTCTTGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAACAAAGTCTAATAAAAGA
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
CTTCCATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTG
CCATGGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAG
CTTGGGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGTGCCCGGAGATGAGGGGAAAGAG
GAGGAGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTAC
AGCCCCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGA
CCTCCTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGCCTAATGACAGTGAAGTGGAC
ATGTTTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAAC
AAAAATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTG
CTCGGAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACT
GATAAGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTT
TGTATGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTT
GGGTGATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAA
CTGCCCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTA
GTTCAGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGC
GAAGGCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAA
ATTAATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTAC
CCAGCAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGAATGGCAACA
TACTTGTTTAACATTGAATTCTGTGCAAGAAAGAAAAAATTTAATATATTCCTTGCCAACAAGT
GGTGGAAAAACCCTCGTGGCTGAGATTTTAATGCTGCAAGAACTGCTTTGCTGTCGGAAAGATG
TTTTAATGATTCTTCCATATGTGGCAATTGTCCAAGAAAAGATTTCAGGTTTGTCAAGTTTTGG
TATAGAACTCGGTTTCTTTGTTGAAGAATATGCTGGAAGCAAAGGAAGATTTCCTCCAACTAAA
AGAAGGGAAAAGAAATCACTCTATATTGCCACTATTGAAAAAGGACATAGCTTGGTGAACTCCT
TGATTGAAACTGGAAGAATTGACAGTCTGGGTCTGGTTGTTGTAGACGAGTTGCACATGATTGG
TGAAGGAAGCCGTGGAGCTACACTGGAAATGACCCTAGCAAAAATCCTCTACACTAGCAAAACG
ACTCAAATTATTGGTATGAGTGCAACATTAAACAATGTTGAAGACCTACAAAAGTTTCTTCAAG
CAGAATATTATACCAGTCAATTTAGACCAGTTGAGTTAAAAGAATATCTGAAAATAAATGATAC
AATATATGAAGTTGACAGCAAAGCTGAGAATGGCATGACTTTTTCACGTCTTCTTAATTATAAG
TATTCTGATACCCTAAAAAAGATGGATCCTGATCACTTGGTAGCATTGGTGACAGAAGTTATTC
CCAATTATTCCTGCTTAGTTTTTTGTCCTAGTAAGAAGAACTGTGAAAATGTAGCAGAAATGAT
ATGCAAATTTTTAAGCAAGGAATATCTGAAACATAAGGAGAAAGAAAAATGTGAGGTGATTAAG
AACTTGAAGAATATTGGCAATGGCAACCTGTGTCCTGTTTTAAAGCGCACTATCCCATTTGGAG
TTGCCTATCACCACAGTGGCTTAACAAGTGATGAAAGGAAACTCTTGGAGGAGGCCTACTCCAC
AGGAGTGCTCTGTCTTTTTACCTGCACATCTACCCTAGCGGCAGGTGTCAACCTACCAGCTCGA
AGAGTTATTTTAAGAGCTCCCTATGTTGCTAAGGAATTTTTAAAGAGGAATCAATATAAACAGA
TGATTGGCAGAGCTGGTCGTGCTGGAATAGATACTATTGGGGAGAGTATCCTCATATTGCAAGA
AAAAGACAAACAACAGGTATTGGAGTTAATAACTAAACCATTGGAAAACTGTTACAGCCATCTT
GTTCAGGAATTCACCAAGGGAATCCAAACATTATTTCTCTCTTTGATTGGTTTGAAGATTGCAA
CGAATCTTGATGACATCTATCATTTCATGAATGGTACATTTTTTGGTGTTCAGCAAAAGGTTTT
ATTGAAAGAAAAAAGTCTCTGGGAAATAACTGTTGAATCACTTAGATACCTGACAGAAAAAGGA
CTCCTACAAAAAGACACTATTTATAAGTCTGAAGAAGAGGTCCAATATAATTTTCATATTACAA
AGTTGGGACGTGCTTCATTTAAGGGAACTATAGATTTAGCTTATTGTGACATTCTGTACAGAGA
CTTGAAGAAAGGTCTTGAAGGACTTGTGCTTGAAAGCCTTCTTCATCTAATCTACCTAACAACC
CCCTATGATCTGGTTTCACAGTGTAACCCTGATTGGATGATATACTTCAGGCAGTTTAGCCAAC
TCAGTCCAGCAGAACAAAATGTAGCTGCCATTCTTGGAGTCTCTGAAAGCTTTATTGGGAAGAA
AGCATCAGGCCAAGCCATCGGAAAGAAGGTGGACAAGAACGTTGTCAACAGGCTATATCTGTCT
TTTGTTCTTTATACCTTGCTCAAAGAGACCAACATTTGGACTGTATCTGAAAAATTTAATATGC
CTCGAGGATATATACAAAATCTTCTCACTGGAACTGCCTCATTCTCATCTTGTGTGTTACATTT
CTGTGAGGAGCTTGAGGAGTTTTGGGTTTACAGAGCCCTTTTGGTAGAACTTACCAAGAAGCTG
ACTTACTGTGTAAAGGCAGAATTAATCCCTCTCATGGAAGTTACTGGAGTTTTAGAGGGTCGAG
CAAAACAGTTATACAGTGCAGGTTACAAAAGTCTAATGCACTTAGCTAATGCAAATCCTGAAGT
GCTCGTAAGGACAATTGATCATTTATCAAGACGCCAAGCCAAGCAAATTGTTTCATCAGCAAAG
ATGCTGTTGCATGAAAAAGCAGAAGCCCTGCAAGAAGAGGTAGAAGAGTTACTAAGATTGCCTT
CTGATTTCCCTGGTGCTGTGGCTTCTTCCACTGACAAAGCATGAAGCTATCTGATGAGAATTTT
CATATATGAATTATTTATTGTACATGTGTGTTATTAAAGATAACTTATACTTTATAAATGAAAA
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
GCTAACTTGGGGTCTTTTCCCAAGGTGGATGTAGAAGCGGGCTCCGGCGTCCCACTCTCCCTTC
CATATGGGCTTAGCGTCTGGGTCACTGAGAACGACGTCTGAATAGGGCCCTGGGTCCTTGCCAT
GGATGAATGTGGTTCCCGCATCCGCCGGCGGGTGTCTCTCCCCAAAAGGAACCGTCCAAGCTTG
GGGTGTATTTTTGGCGCTCCCACCGCGGCCGAGCTCGAGCCCGGAGATGAGGGGAAAGAGGAGG
AGGAAATGGTGGCTGAGAACAGGAGGCGGAAAACCGCGGGCGTACTGCCGGTTGAGGTACAGCC
CCTTCTACTCTCAGATTCCCCGGAATGTCTCGTCCTTGGAGGTGGTGATACAAACCCGGACCTC
CTACGTCACATGCCCACTGACAGAGGGGTGGGAGACCAGGTACGGAGGACTTGGAACTTGAAAC
TGCAAACTTTTGGCATCCTTCCCAGATGCAAAGAGTTGACCAGTTTTATCGCCTTCGTTTACTT
CTCTCGTCTTCGTTACCACTGTTAATCGGCACTTAGGAGCCTAATGACAGTGAAGTGGACATGT
TTGGTGACTATGATAGCTTTACTGAAAACTCCTTTATAGCTCAAGTTGACGACCTGGAACAAAA
ATATATGCAACTCCCTGAACATAAGAAACATGCTACAGACTTTGCCACTGAAAATCTTTGCTCG
GAAAGTATCAAAAACAAACTCAGCATTACTACCATAGGCAACCTTACTGAATTACAAACTGATA
AGCACACAGAGAACCAGAGTGGATATGAAGGTGTCACTATTGAACCTGGAGCTGATCTTTTGTA
TGATGTACCTTCCTCACAGGCTATATACTTTGAAAATTTGCAGAACTCTTCAAATGATTTGGGT
GATCATTCTATGAAAGAAAGGGATTGGAAGTCATCCTCTCACAACACTGTGAATGAGGAACTGC
CCCATAATTGCATAGAGCAACCCCAGCAAAATGATGAGTCCTCTTCCAAAGTCAGAACTAGTTC
AGATATGAACAGGAGAAAAAGTATTAAAGATCATCTAAAAAATGCCATGACTGGAAATGCGAAG
GCCCAGACACCAATATTTTCTAGAAGTAAACAGCTCAAAGACACTCTCCTATCTGAGGAAATTA
ATGTTGCTAAGAAAACAGTTGAGTCATCATCAAATGACCTTGGTCCTTTTTATTCATTACCCAG
CAAAGTGAGAGACCTTTATGCCCAATTCAAGGGAATTGAAAAATTATATGGTAATGCTTTTTGC
TGGAATAAAAAAATTTTTTTCCTATCATTACCATAATATTAGTGCAAGTAAATAGAAGCAAATG
CTTTCATGGTCCATACTGTTTCTCATTTTGAAAACAAAAGATCAGTGATCTCTCAGCCCCTTCC
ATTCCTACCTGTCCTGCTACCACTGAACCTCTTTCCTTCCCTCACAGTCACACTTATCAAACCA
GTTATCCTTTCTGTCTGTTTCCTTACCTGACATAATTCCTCTAATTCCTCATCTATAAGAAAGG
GATAATAAGTTGTTAGCAAGTCAGATTCTGGTTCAAAGACATGCCAAATTCAATGTTGGTAATG
ATTTTCAATAATTATATTGGTAGCTTCTAAGTAAGAACTTTAGTAAATTACCCCACTCTAATTC
TGGGTTCTGTGCTCTCATTCTCTCACTTAAGATCTGATGACTGAGACGTCTAAACACAGTGTTA
CTTTTAATGTTTACCTTACCTGACTTCTCAATAACTTACCTGATGCTATTGACTACACCCTTCT
TGAAATTCTTGTTTCTGGATGTCCTTACAACCACTCCTGTTTTTTGACCCCGATTGTCTAGTAG
AGATCCTCAGCTTTCTTAGTTGTATTTCCTTGGCTGGCTCTGTCTTCTCTACCAAAACCTAGCT
GTTGTGGTATGTCTTTGACACTCACATGTCTTGAGTGAAAGAAGTCAGTTATTAGTAATACTGT
TGATTAAACCAAACATCTTTCCCCCCACACCAGCAGCCGCAGCTACCTCTCCCCACGGGTGCAT
CCCTGCCACCACCCAGATGCTCTGCCTTGTGCTGCCTTTCCCAAAGCTAGACATCTTTAAAGAC
AGCTGCAATTAAGTTTTAAGTCAGGGATGTCCAATCTTTTGGCTTCCTTGGGCCACTTTGGAAA
AAGTATTGTCTTGAGCCACAATAAAATACAGTAACACGATAGCTGATGAGCCAAGAAAAAAAAT
TGCAAAAAAAAAAATCTCATAATGTTTTAAGAAAGTTTACAAATTTGTGTTGGGCCACATTCAA
AGCCATTCTGGGCCTCATGAGGGCCGTGGGTTGGACAAACTTGTTTTAAGTGCAAAGAAGCAAT
AATATTAAGAAGGTATCTTGTAATGTTTTTCAAAAATCCAGGGTCCTTGCATATATTTCAGATA
TGTGTCATTTTAGACCAAGAAGGGACAGTTGCTGCCATACTGGAGGGTCAGCCCCATCAACCTT
CCACTTCGTAAGTTTTCTGGAACTCCTGTTAGGATCTTATGAATGATATGAAAACTTGGGTTCT
TGCAGAGAAGACAATCAGGTTGGAGAAGCAGAACTACAGGAAACAAAGTCTAATAAAAGACTCT
ACAAGAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


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
	ENSP00000424186.1
	ENSP00000424539
	ENSP00000424539.1
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 MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQ PLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFIAQVDDLEQ KYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLL YDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTS SDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLP SKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDV LMILPYVAIVQEKISGLSSFGIELGFFVEEYAGSKGRFPPTKRREKKSLYIATIEKGHSLVNSL IETGRIDSLGLVVVDELHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQKFLQA EYYTSQFRPVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIP NYSCLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGV AYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQM IGRAGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKGIQTLFLSLIGLKIAT NLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITK LGRASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQL SPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMP RGYIQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVLEGRA KQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPS DFPGAVASSTDKA hide sequence

RefSeq Acc Id:	NP_001284684 ⟸ NM_001297755
- Peptide Label:	isoform 2
- UniProtKB:	E3W980 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQ PLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFIAQVDDLEQ KYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLL YDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTS SDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLP SKVRDLYAQFKGIEKLYEWQHTCLTLNSVQERKNLIYSLPTSGGKTLVAEILMLQELLCCRKDV LMILPYVAIVQEKLHMIGEGSRGATLEMTLAKILYTSKTTQIIGMSATLNNVEDLQKFLQAEYY TSQFRPVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYS CLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGVAYH HSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGR AGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKGIQTLFLSLIGLKIATNLD DIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGR ASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPA EQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGY IQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAELIPLMEVTGVLEGRAKQL YSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFP GAVASSTDKA hide sequence

RefSeq Acc Id:

NP_001284686 ⟸ NM_001297757

- Peptide Label:

isoform 4

- Sequence:

show sequence

MTFSRLLNYKYSDTLKKMDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKH
KEKEKCEVIKNLKNIGNGNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTST
LAAGVNLPARRVILRAPYVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELIT
KPLENCYSHLVQEFTKGIQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEITV
ESLRYLTEKGLLQKDTIYKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKKGLEGLVLE
SLLHLIYLTTPYDLVSQCNPDWMIYFRQFSQLSPAEQNVAAILGVSESFIGKKASGQAIGKKVD
KNVVNRLYLSFVLYTLLKETNIWTVSEKFNMPRGYIQNLLTGTASFSSCVLHFCEELEEFWVYR
ALLVELTKKLTYCVKAELIPLMEVTGVLEGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRR
QAKQIVSSAKMLLHEKAEALQEEVEELLRLPSDFPGAVASSTDKA

hide sequence

RefSeq Acc Id:

NP_001284685 ⟸ NM_001297756

- Peptide Label:

isoform 3

- Sequence:

show sequence

MLKTYKSFFKQNIIPVNLDQYVPKVELKEYLKINDTIYEVDSKAENGMTFSRLLNYKYSDTLKK
MDPDHLVALVTEVIPNYSCLVFCPSKKNCENVAEMICKFLSKEYLKHKEKEKCEVIKNLKNIGN
GNLCPVLKRTIPFGVAYHHSGLTSDERKLLEEAYSTGVLCLFTCTSTLAAGVNLPARRVILRAP
YVAKEFLKRNQYKQMIGRAGRAGIDTIGESILILQEKDKQQVLELITKPLENCYSHLVQEFTKG
IQTLFLSLIGLKIATNLDDIYHFMNGTFFGVQQKVLLKEKSLWEITVESLRYLTEKGLLQKDTI
YKSEEEVQYNFHITKLGRASFKGTIDLAYCDILYRDLKKGLEGLVLESLLHLIYLTTPYDLVSQ
CNPDWMIYFRQFSQLSPAEQNVAAILGVSESFIGKKASGQAIGKKVDKNVVNRLYLSFVLYTLL
KETNIWTVSEKFNMPRGYIQNLLTGTASFSSCVLHFCEELEEFWVYRALLVELTKKLTYCVKAE
LIPLMEVTGVLEGRAKQLYSAGYKSLMHLANANPEVLVRTIDHLSRRQAKQIVSSAKMLLHEKA
EALQEEVEELLRLPSDFPGAVASSTDKA

hide sequence

RefSeq Acc Id:

NP_001284687 ⟸ NM_001297758

- Peptide Label:

isoform 5

- Sequence:

show sequence

MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEPN
DSEVDMFGDYDSFTENSFIAQVDDLEQKYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNL
TELQTDKHTENQSGYEGVTIEPGADLLYDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHN
TVNEELPHNCIEQPQQNDESSSKVRTSSDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDT
LLSEEINVAKKTVESSSNDLGPFYSLPSKVRDLYAQFKGIEKLYGNAFCWNKKIFFLSLP

hide sequence

RefSeq Acc Id:

NP_001284688 ⟸ NM_001297759

- Peptide Label:

isoform 6

- Sequence:

show sequence

MDECGSRIRRRVSLPKRNRPSLGCIFGAPTAAELEPGDEGKEEEEMVAENRRRKTAGVLPVEVQ
PLLLSDSPECLVLGGGDTNPDLLRHMPTDRGVGDQPNDSEVDMFGDYDSFTENSFIAQVDDLEQ
KYMQLPEHKKHATDFATENLCSESIKNKLSITTIGNLTELQTDKHTENQSGYEGVTIEPGADLL
YDVPSSQAIYFENLQNSSNDLGDHSMKERDWKSSSHNTVNEELPHNCIEQPQQNDESSSKVRTS
SDMNRRKSIKDHLKNAMTGNAKAQTPIFSRSKQLKDTLLSEEINVAKKTVESSSNDLGPFYSLP
SKVRDLYAQFKGIEKLYGNAFCWNKKIFFLSLP

hide sequence

Ensembl Acc Id:

ENSP00000295488 ⟸ ENST00000295488

Ensembl Acc Id:

ENSP00000424186 ⟸ ENST00000508591

Ensembl Acc Id:

ENSP00000424539 ⟸ ENST00000510985

Protein Domains

Helicase ATP-binding Helicase C-terminal

Protein Structures

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

Promoters

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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18536	AgrOrtholog
COSMIC	HELQ	COSMIC
Ensembl Genes	ENSG00000163312	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000295488	ENTREZGENE
	ENST00000295488.8	UniProtKB/Swiss-Prot
	ENST00000508591.5	UniProtKB/TrEMBL
	ENST00000510985	ENTREZGENE
	ENST00000510985.1	UniProtKB/TrEMBL
Gene3D-CATH	1.10.3380.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	5' to 3' exonuclease, C-terminal subdomain	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000163312	GTEx
HGNC ID	HGNC:18536	ENTREZGENE
Human Proteome Map	HELQ	Human Proteome Map
InterPro	DEAD/DEAH_box_helicase_dom	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Hel308/SKI2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_ATP-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HTH_61	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	POLQ-like_helical	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	WH_DNA-bd_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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, UniProtKB/TrEMBL
	HELICASE POLQ-LIKE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	DEAD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Helicase_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HTH_61	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	POLQ_helical	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA164720529	PharmGKB
PROSITE	HELICASE_ATP_BIND_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	HELICASE_CTER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	DEXDc	UniProtKB/Swiss-Prot
	HELICc	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	Sec63 N-terminal domain-like	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF46785	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar