HELB (DNA helicase B) - Rat Genome Database

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

Gene: HELB (DNA helicase B) Homo sapiens

Analyze

Symbol:

HELB

Name:

DNA helicase B

RGD ID:

1344471

HGNC Page

HGNC:17196

Description:

Enables 5'-3' DNA helicase activity and single-stranded DNA helicase activity. Involved in DNA damage response; DNA replication, synthesis of RNA primer; and regulation of DNA metabolic process. Located in several cellular components, including mitochondrion; nuclear lumen; and site of double-strand break.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

DHB; hDHB; helicase (DNA) B; helicase B

RGD Orthologs

Alliance Genes

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):	Helb (helicase (DNA) B)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Helb (DNA helicase B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Helb (DNA helicase B)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	HELB (DNA helicase B)	NCBI	Ortholog
Canis lupus familiaris (dog):	HELB (DNA helicase B)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Helb (DNA helicase B)	NCBI	Ortholog
Sus scrofa (pig):	HELB (DNA helicase B)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	HELB (DNA helicase B)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Helb (DNA helicase B)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Helb (DNA helicase B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Helb (helicase (DNA) B)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	helb (helicase (DNA) B)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	helb	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER)
Xenopus laevis (African clawed frog):	helb.L	Alliance	DIOPT (Xenbase)

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	12	66,302,493 - 66,343,643 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	66,302,493 - 66,343,643 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	66,696,273 - 66,737,423 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	64,982,623 - 65,018,225 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	64,982,622 - 65,018,225	NCBI
Celera	12	66,360,579 - 66,396,179 (+)	NCBI		Celera
Cytogenetic Map	12	q14.3	NCBI
HuRef	12	63,747,134 - 63,788,225 (+)	NCBI		HuRef
CHM1_1	12	66,663,371 - 66,704,434 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	66,281,949 - 66,323,096 (+)	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

genetic disease (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

1,2-dimethylhydrazine (ISO)

17alpha-ethynylestradiol (ISO)

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

4,4'-diaminodiphenylmethane (ISO)

5-aza-2'-deoxycytidine (EXP,ISO)

acrylamide (ISO)

all-trans-retinoic acid (ISO)

amiodarone (EXP)

amphetamine (ISO)

antirheumatic drug (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (EXP,ISO)

caffeine (EXP)

cannabidiol (EXP)

choline (ISO)

copper atom (ISO)

copper(0) (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

diethyl maleate (ISO)

folic acid (ISO)

FR900359 (EXP)

gentamycin (ISO)

L-methionine (ISO)

nickel atom (EXP)

paracetamol (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctane-1-sulfonic acid (ISO)

sunitinib (EXP)

tamoxifen (ISO)

thapsigargin (ISO)

trichloroethene (ISO)

tungsten (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

DNA damage response (IDA,IEA)

DNA duplex unwinding (IEA,ISO)

DNA repair (IEA)

DNA replication (IMP)

DNA replication, synthesis of primer (IDA)

DNA-templated DNA replication (IEA,ISO)

negative regulation of double-strand break repair via homologous recombination (IBA,IEA,IMP)

regulation of DNA double-strand break processing (IEA,IMP)

Cellular Component

chromosome (IEA)

cytoplasm (IDA,IEA)

cytosol (IDA)

DNA replication factor A complex (IDA)

mitochondrion (IDA)

nuclear body (IDA)

nucleoplasm (IDA)

nucleus (IDA,IEA)

site of double-strand break (IMP)

Molecular Function

5'-3' DNA helicase activity (IDA)

ATP binding (IEA)

ATP hydrolysis activity (IEA)

DNA helicase activity (IEA)

helicase activity (IEA)

hydrolase activity (IEA)

protein binding (ISO)

protein-containing complex binding (IPI)

single-stranded DNA helicase activity (IBA,IDA)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8889549	PMID:11557815	PMID:12181327	PMID:12477932	PMID:15146062	PMID:17148452	PMID:21873635	PMID:22194613	PMID:24126761	PMID:25617833	PMID:25798074	PMID:25933514
PMID:26186194	PMID:26496610	PMID:26774285	PMID:27634302	PMID:27705803	PMID:27723720	PMID:28514442	PMID:29507755	PMID:31452512	PMID:31536960	PMID:32455610	PMID:32478505
PMID:33472061	PMID:33961781	PMID:35385349	PMID:36779422	PMID:37689310	PMID:37827155

Genomics

Comparative Map Data

HELB
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	12	66,302,493 - 66,343,643 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	12	66,302,493 - 66,343,643 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	12	66,696,273 - 66,737,423 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	12	64,982,623 - 65,018,225 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	12	64,982,622 - 65,018,225	NCBI
Celera	12	66,360,579 - 66,396,179 (+)	NCBI		Celera
Cytogenetic Map	12	q14.3	NCBI
HuRef	12	63,747,134 - 63,788,225 (+)	NCBI		HuRef
CHM1_1	12	66,663,371 - 66,704,434 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	12	66,281,949 - 66,323,096 (+)	NCBI		T2T-CHM13v2.0

Helb
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	10	119,919,513 - 119,948,917 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	10	119,919,513 - 119,948,892 (-)	Ensembl		GRCm39 Ensembl
GRCm38	10	120,083,608 - 120,113,010 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	10	120,083,608 - 120,112,987 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	10	119,520,664 - 119,550,021 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	10	119,486,668 - 119,515,950 (-)	NCBI		MGSCv36	mm8
Celera	10	122,444,816 - 122,474,175 (-)	NCBI		Celera
Cytogenetic Map	10	D2	NCBI
cM Map	10	67.94	NCBI

Helb
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	57,474,115 - 57,502,221 (-)	NCBI		GRCr8
mRatBN7.2	7	55,588,510 - 55,615,979 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	55,588,798 - 55,615,585 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	57,495,018 - 57,522,059 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	59,698,184 - 59,725,225 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	59,475,558 - 59,502,601 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	64,860,641 - 64,888,146 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	64,860,666 - 64,887,448 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	65,077,799 - 65,104,947 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	59,311,833 - 59,338,961 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	7	52,345,910 - 52,373,763 (-)	NCBI		Celera
Cytogenetic Map	7	q22	NCBI

Helb
(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_004955458	12,929,447 - 12,974,154 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955458	12,929,345 - 12,971,059 (+)	NCBI	ChiLan1.0	ChiLan1.0

HELB
(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	10	28,008,361 - 28,053,267 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	12	28,004,273 - 28,049,547 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	12	22,571,448 - 22,607,417 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	12	23,078,732 - 23,114,134 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	12	23,078,732 - 23,114,134 (-)	Ensembl	panpan1.1		panPan2

HELB
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	8,766,023 - 8,797,055 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	8,765,617 - 8,798,092 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	8,696,318 - 8,727,628 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	8,877,731 - 8,909,045 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	8,877,775 - 8,908,065 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	8,754,221 - 8,785,523 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	8,999,596 - 9,030,904 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	9,120,841 - 9,152,148 (+)	NCBI		UU_Cfam_GSD_1.0

Helb
(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_024404945	49,763,884 - 49,791,906 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936545	4,318,227 - 4,346,525 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936545	4,318,256 - 4,346,438 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

HELB
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	30,645,656 - 30,697,232 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	30,645,378 - 30,696,488 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	33,919,789 - 33,965,657 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

HELB
(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	11	61,972,061 - 62,008,532 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	11	61,972,161 - 62,012,631 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666037	183,714,622 - 183,751,689 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Helb
(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_004624802	1,960,297 - 1,993,961 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624802	1,960,336 - 1,993,538 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in HELB
57 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 12q14.2-15(chr12:64368308-69123358)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052815]\|See cases [RCV000052815]	Chr12:64368308..69123358 [GRCh38] Chr12:64762088..69517138 [GRCh37] Chr12:63048355..67803405 [NCBI36] Chr12:12q14.2-15	pathogenic
GRCh38/hg38 12q14.3-15(chr12:65958499-69057308)x1	copy number loss	See cases [RCV000052816]	Chr12:65958499..69057308 [GRCh38] Chr12:66352279..69451088 [GRCh37] Chr12:64638546..67737355 [NCBI36] Chr12:12q14.3-15	pathogenic\|likely pathogenic
NM_033647.3(HELB):c.2000+250T>C	single nucleotide variant	Lung cancer [RCV000111205]	Chr12:66315633 [GRCh38] Chr12:66709413 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh38/hg38 12q14.1-14.3(chr12:60907151-66568077)x1	copy number loss	See cases [RCV000138985]	Chr12:60907151..66568077 [GRCh38] Chr12:61300932..66961857 [GRCh37] Chr12:59587199..65248124 [NCBI36] Chr12:12q14.1-14.3	pathogenic
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	copy number gain	See cases [RCV000139555]	Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33	pathogenic
GRCh38/hg38 12q14.3-15(chr12:65445176-71026337)x1	copy number loss	See cases [RCV000142445]	Chr12:65445176..71026337 [GRCh38] Chr12:65838956..71420117 [GRCh37] Chr12:64125223..69706384 [NCBI36] Chr12:12q14.3-15	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	copy number gain	See cases [RCV000258805]	Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33	pathogenic\|likely pathogenic
GRCh37/hg19 12q14.1-15(chr12:59495114-70574966)x1	copy number loss	See cases [RCV000447164]	Chr12:59495114..70574966 [GRCh37] Chr12:12q14.1-15	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	copy number gain	See cases [RCV000510482]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	copy number gain	See cases [RCV000511643]	Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_001370285.1(HELB):c.1985T>C (p.Val662Ala)	single nucleotide variant	Inborn genetic diseases [RCV003249488]	Chr12:66315368 [GRCh38] Chr12:66709148 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.755C>T (p.Pro252Leu)	single nucleotide variant	Inborn genetic diseases [RCV003259951]	Chr12:66306492 [GRCh38] Chr12:66700272 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.309A>T (p.Gln103His)	single nucleotide variant	Inborn genetic diseases [RCV003287967]	Chr12:66304852 [GRCh38] Chr12:66698632 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3	copy number gain	not provided [RCV000750246]	Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3	copy number gain	not provided [RCV000750253]	Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33	pathogenic
NM_001370285.1(HELB):c.3038T>C (p.Phe1013Ser)	single nucleotide variant	not provided [RCV000973495]	Chr12:66331521 [GRCh38] Chr12:66725301 [GRCh37] Chr12:12q14.3	benign
NM_001370285.1(HELB):c.3003C>T (p.Ser1001=)	single nucleotide variant	not provided [RCV000947474]	Chr12:66331486 [GRCh38] Chr12:66725266 [GRCh37] Chr12:12q14.3	benign
NM_001370285.1(HELB):c.799C>T (p.Leu267Phe)	single nucleotide variant	not provided [RCV000967279]	Chr12:66309727 [GRCh38] Chr12:66703507 [GRCh37] Chr12:12q14.3	benign
GRCh37/hg19 12q14.3(chr12:66285627-66718973)x3	copy number gain	not provided [RCV000848983]	Chr12:66285627..66718973 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12q14.3(chr12:66719794-67144575)x3	copy number gain	not provided [RCV000847196]	Chr12:66719794..67144575 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3260C>T (p.Thr1087Ile)	single nucleotide variant	Inborn genetic diseases [RCV003274727]	Chr12:66338098 [GRCh38] Chr12:66731878 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1942A>G (p.Ile648Val)	single nucleotide variant	not provided [RCV000963969]	Chr12:66315325 [GRCh38] Chr12:66709105 [GRCh37] Chr12:12q14.3	benign
NM_001370285.1(HELB):c.1460G>A (p.Arg487His)	single nucleotide variant	not provided [RCV000955447]	Chr12:66310388 [GRCh38] Chr12:66704168 [GRCh37] Chr12:12q14.3	benign
GRCh37/hg19 12q14.3-21.1(chr12:65251705-75263379)x1	copy number loss	not provided [RCV001537907]	Chr12:65251705..75263379 [GRCh37] Chr12:12q14.3-21.1	pathogenic
NM_001370285.1(HELB):c.2282C>T (p.Thr761Ile)	single nucleotide variant	Inborn genetic diseases [RCV003252518]	Chr12:66322768 [GRCh38] Chr12:66716548 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12q14.3-15(chr12:66045645-68872343)x1	copy number loss	not provided [RCV001832934]	Chr12:66045645..68872343 [GRCh37] Chr12:12q14.3-15	pathogenic
GRCh37/hg19 12q14.3(chr12:66649649-66924363)x3	copy number gain	not provided [RCV002473727]	Chr12:66649649..66924363 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12q14.2-15(chr12:64609458-70352103)x1	copy number loss	not provided [RCV002511748]	Chr12:64609458..70352103 [GRCh37] Chr12:12q14.2-15	pathogenic
NM_001370285.1(HELB):c.3244A>G (p.Thr1082Ala)	single nucleotide variant	Inborn genetic diseases [RCV002774558]	Chr12:66338082 [GRCh38] Chr12:66731862 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.704C>T (p.Ser235Leu)	single nucleotide variant	Inborn genetic diseases [RCV002859792]	Chr12:66306441 [GRCh38] Chr12:66700221 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2086A>T (p.Thr696Ser)	single nucleotide variant	Inborn genetic diseases [RCV002753179]	Chr12:66318723 [GRCh38] Chr12:66712503 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3223C>G (p.Pro1075Ala)	single nucleotide variant	Inborn genetic diseases [RCV002882799]	Chr12:66338061 [GRCh38] Chr12:66731841 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.644C>T (p.Pro215Leu)	single nucleotide variant	Inborn genetic diseases [RCV002734236]	Chr12:66306381 [GRCh38] Chr12:66700161 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.703T>A (p.Ser235Thr)	single nucleotide variant	Inborn genetic diseases [RCV002870227]	Chr12:66306440 [GRCh38] Chr12:66700220 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1366C>T (p.Arg456Trp)	single nucleotide variant	Inborn genetic diseases [RCV002694215]	Chr12:66310294 [GRCh38] Chr12:66704074 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.512A>C (p.Lys171Thr)	single nucleotide variant	Inborn genetic diseases [RCV002912235]	Chr12:66305055 [GRCh38] Chr12:66698835 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2534C>G (p.Thr845Ser)	single nucleotide variant	Inborn genetic diseases [RCV002925631]	Chr12:66324990 [GRCh38] Chr12:66718770 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2932C>A (p.Pro978Thr)	single nucleotide variant	Inborn genetic diseases [RCV002888018]	Chr12:66331415 [GRCh38] Chr12:66725195 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1783G>A (p.Val595Ile)	single nucleotide variant	Inborn genetic diseases [RCV002704752]	Chr12:66314088 [GRCh38] Chr12:66707868 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2369A>G (p.Asp790Gly)	single nucleotide variant	Inborn genetic diseases [RCV002760086]	Chr12:66324054 [GRCh38] Chr12:66717834 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1154T>C (p.Val385Ala)	single nucleotide variant	Inborn genetic diseases [RCV002698257]	Chr12:66310082 [GRCh38] Chr12:66703862 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.680G>A (p.Arg227Gln)	single nucleotide variant	Inborn genetic diseases [RCV002987324]	Chr12:66306417 [GRCh38] Chr12:66700197 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2759G>A (p.Arg920His)	single nucleotide variant	Inborn genetic diseases [RCV002697798]	Chr12:66331242 [GRCh38] Chr12:66725022 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3200A>G (p.Asn1067Ser)	single nucleotide variant	Inborn genetic diseases [RCV002765334]	Chr12:66338038 [GRCh38] Chr12:66731818 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.701G>C (p.Gly234Ala)	single nucleotide variant	Inborn genetic diseases [RCV002709263]	Chr12:66306438 [GRCh38] Chr12:66700218 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1987G>A (p.Asp663Asn)	single nucleotide variant	Inborn genetic diseases [RCV002936826]	Chr12:66315370 [GRCh38] Chr12:66709150 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.734A>G (p.Glu245Gly)	single nucleotide variant	Inborn genetic diseases [RCV002674807]	Chr12:66306471 [GRCh38] Chr12:66700251 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1222G>C (p.Asp408His)	single nucleotide variant	Inborn genetic diseases [RCV002935416]	Chr12:66310150 [GRCh38] Chr12:66703930 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2777T>C (p.Ile926Thr)	single nucleotide variant	Inborn genetic diseases [RCV002703466]	Chr12:66331260 [GRCh38] Chr12:66725040 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1141G>A (p.Asp381Asn)	single nucleotide variant	Inborn genetic diseases [RCV002941405]	Chr12:66310069 [GRCh38] Chr12:66703849 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3051G>T (p.Trp1017Cys)	single nucleotide variant	Inborn genetic diseases [RCV002934761]	Chr12:66331534 [GRCh38] Chr12:66725314 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.413G>A (p.Ser138Asn)	single nucleotide variant	Inborn genetic diseases [RCV002723414]	Chr12:66304956 [GRCh38] Chr12:66698736 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2942C>T (p.Pro981Leu)	single nucleotide variant	Inborn genetic diseases [RCV003190915]	Chr12:66331425 [GRCh38] Chr12:66725205 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3245C>T (p.Thr1082Ile)	single nucleotide variant	Inborn genetic diseases [RCV003186114]	Chr12:66338083 [GRCh38] Chr12:66731863 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3014C>T (p.Ser1005Leu)	single nucleotide variant	Inborn genetic diseases [RCV003173351]	Chr12:66331497 [GRCh38] Chr12:66725277 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.442G>C (p.Val148Leu)	single nucleotide variant	Inborn genetic diseases [RCV003199620]	Chr12:66304985 [GRCh38] Chr12:66698765 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2444C>T (p.Thr815Met)	single nucleotide variant	Inborn genetic diseases [RCV003302575]	Chr12:66324129 [GRCh38] Chr12:66717909 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1991A>G (p.Asn664Ser)	single nucleotide variant	Inborn genetic diseases [RCV003340433]	Chr12:66315374 [GRCh38] Chr12:66709154 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1892G>A (p.Gly631Asp)	single nucleotide variant	Inborn genetic diseases [RCV003344610]	Chr12:66315275 [GRCh38] Chr12:66709055 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2260G>A (p.Asp754Asn)	single nucleotide variant	Inborn genetic diseases [RCV003359106]	Chr12:66322746 [GRCh38] Chr12:66716526 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.467A>G (p.Asn156Ser)	single nucleotide variant	Inborn genetic diseases [RCV003344906]	Chr12:66305010 [GRCh38] Chr12:66698790 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.2471G>A (p.Arg824His)	single nucleotide variant	Inborn genetic diseases [RCV003364668]	Chr12:66324156 [GRCh38] Chr12:66717936 [GRCh37] Chr12:12q14.3	likely benign
NM_001370285.1(HELB):c.2758C>T (p.Arg920Cys)	single nucleotide variant	Inborn genetic diseases [RCV003351136]	Chr12:66331241 [GRCh38] Chr12:66725021 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.3173C>G (p.Ser1058Cys)	single nucleotide variant	Inborn genetic diseases [RCV003361810]	Chr12:66338011 [GRCh38] Chr12:66731791 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.17C>T (p.Pro6Leu)	single nucleotide variant	Inborn genetic diseases [RCV003374052]	Chr12:66302620 [GRCh38] Chr12:66696400 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1435T>G (p.Cys479Gly)	single nucleotide variant	Inborn genetic diseases [RCV003363643]	Chr12:66310363 [GRCh38] Chr12:66704143 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.302G>A (p.Ser101Asn)	single nucleotide variant	Inborn genetic diseases [RCV003378247]	Chr12:66304845 [GRCh38] Chr12:66698625 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.329C>T (p.Pro110Leu)	single nucleotide variant	Inborn genetic diseases [RCV003386587]	Chr12:66304872 [GRCh38] Chr12:66698652 [GRCh37] Chr12:12q14.3	uncertain significance
NM_001370285.1(HELB):c.1826A>G (p.Glu609Gly)	single nucleotide variant	Inborn genetic diseases [RCV003347893]	Chr12:66314131 [GRCh38] Chr12:66707911 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12q14.1-15(chr12:61755618-70035424)x1	copy number loss	not provided [RCV003483154]	Chr12:61755618..70035424 [GRCh37] Chr12:12q14.1-15	pathogenic
GRCh37/hg19 12q14.3(chr12:66460527-67175455)x3	copy number gain	not provided [RCV003484872]	Chr12:66460527..67175455 [GRCh37] Chr12:12q14.3	uncertain significance
GRCh37/hg19 12q14.3(chr12:65462762-66830065)x1	copy number loss	not specified [RCV003986967]	Chr12:65462762..66830065 [GRCh37] Chr12:12q14.3	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1126
Count of miRNA genes:	603
Interacting mature miRNAs:	670
Transcripts:	ENST00000247815, ENST00000440906, ENST00000536862, ENST00000542394, ENST00000545134, ENST00000545455
Prediction methods:	Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

GDB:312742

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	69,581,109 - 69,581,348	UniSTS	GRCh37
GRCh37	11	19,907,797 - 19,909,383	UniSTS	GRCh37
Build 36	11	69,290,290 - 69,290,529	RGD	NCBI36
Celera	11	20,040,509 - 20,042,095	UniSTS
Celera	11	66,878,147 - 66,878,366	RGD
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	11	p15.1	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
HuRef	12	63,777,835 - 63,779,102	UniSTS
HuRef	11	65,873,469 - 65,873,689	UniSTS

G66813

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	66,700,352 - 66,700,697	UniSTS	GRCh37
Build 36	12	64,986,619 - 64,986,964	RGD	NCBI36
Celera	12	66,364,573 - 66,364,918	RGD
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
HuRef	12	63,751,147 - 63,751,492	UniSTS

SHGC-34947

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	12	66,729,996 - 66,730,145	UniSTS	GRCh37
Build 36	12	65,016,263 - 65,016,412	RGD	NCBI36
Celera	12	66,394,217 - 66,394,366	RGD
Cytogenetic Map	12	q	UniSTS
Cytogenetic Map	12	q14.3	UniSTS
HuRef	12	63,780,799 - 63,780,948	UniSTS
Stanford-G3 RH Map	12	2739.0	UniSTS
GeneMap99-GB4 RH Map	12	287.88	UniSTS
Whitehead-RH Map	12	378.4	UniSTS
NCBI RH Map	12	518.7	UniSTS
GeneMap99-G3 RH Map	12	2685.0	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

Low

2147

1903

1501

528

1822

376

3163

832

1593

296

1403

1584

169

1175

1680

Below cutoff

288

1081

217

1190

1360

2137

120

1107

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001370285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033647	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_135081	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017020230	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047429893	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA070301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC078889	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF319995	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290894	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC037946	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC143411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471054	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068266	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DN997712	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000247815 ⟹ ENSP00000247815

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,302,493 - 66,338,199 (+)	Ensembl

RefSeq Acc Id:

ENST00000440906 ⟹ ENSP00000396955

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,302,579 - 66,338,158 (+)	Ensembl

RefSeq Acc Id:

ENST00000536862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,322,740 - 66,324,519 (+)	Ensembl

RefSeq Acc Id:

ENST00000542394 ⟹ ENSP00000439617

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,302,579 - 66,338,169 (+)	Ensembl

RefSeq Acc Id:

ENST00000545134 ⟹ ENSP00000443287

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,302,580 - 66,343,643 (+)	Ensembl

RefSeq Acc Id:

ENST00000545455

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	12	66,321,402 - 66,325,078 (+)	Ensembl

RefSeq Acc Id:

NM_001370285 ⟹ NP_001357214

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,493 - 66,338,199 (+)	NCBI
T2T-CHM13v2.0	12	66,281,949 - 66,317,650 (+)	NCBI

Sequence:

show sequence

AGGCCGTTCCCGGAAGTTGATGGCCTTACAGTCGTAGAACTGATTGGCTGATCATGACCATGCA
GTTAGCCAGGGTTTTCCCGAGTTGTTTGGGTTGAGTTCAGGAGAAGCATGGCCAGGTCGAGTCC
GTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGAC
TACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCA
GTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACAC
ACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTA
CAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACT
TTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTG
TGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAA
AACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAG
ATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCC
TCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAA
TTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGT
TGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTA
CAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTT
CTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATAT
GTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATAT
GTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAG
AAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTG
ACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCA
CACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGA
TTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTG
AAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACT
GGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGG
AAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAG
AAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGAT
TACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCT
ACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGG
TCAATTATAGCTTCTATTCATGGACTCAAACAATGATGACCACAAACAAACCATGGAAATTTTC
TTCGGTTAGAGTTCTGGTTGTGGATGAAGGGAGTTTGGTATCTGTAGGAATCTTCAAATCGGTC
TTAAATTTATTGTGTGAGCACTCCAAACTTTCTAAGCTTATTATCCTTGGTGACATTAGACAGT
TACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTTAAGTCAAGAAATTG
TGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGGACAATGCTACAAGA
ATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGATAATCCAACATTAC
CCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAGGATGCCAGTTCTCA
GTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTTTACTACAAGAAAAT
AACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGACTGTGATCTAATTA
ATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAGAGTAGACTTGTTTT
TGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACTTACTACCTGAAAAT
ATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTGGTACGCTTC
CTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGCAATGGAGAGATATT
TTTCATAACAAATGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTGACCATTAATAAT
ATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTCGCATAAAACATG
CATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTTGTCTATGTGGTGGG
GAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGGGCCGCTGCCGAGTG
TATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAGTTTTCCTAGAAAAA
CTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCTCCAGCAGATTTTCC
GTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAGCATCTCCACTCCCT
GTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTCTTCGCCTGATGAGA
GGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTAGATACAGATGATGA
TTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATGAAAGTCCAAGCAAA
ATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTTGAGACTGAATAATT
TAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAGTTTTATTTCAAATTGTT
CCGAGTAACTATGTTTTTCTATTGGAGACAAAATGAACATCGTAACGTCAAAGTACCAAGATAA
AAAAAGTTTCCTATAA

hide sequence

RefSeq Acc Id:

NM_033647 ⟹ NP_387467

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,493 - 66,343,643 (+)	NCBI
GRCh37	12	66,696,335 - 66,737,423 (+)	NCBI
Build 36	12	64,982,623 - 65,018,225 (+)	NCBI Archive
Celera	12	66,360,579 - 66,396,179 (+)	RGD
HuRef	12	63,747,134 - 63,788,225 (+)	NCBI
CHM1_1	12	66,663,361 - 66,704,434 (+)	NCBI
T2T-CHM13v2.0	12	66,281,949 - 66,323,096 (+)	NCBI

Sequence:

show sequence

AGGCCGTTCCCGGAAGTTGATGGCCTTACAGTCGTAGAACTGATTGGCTGATCATGACCATGCA
GTTAGCCAGGGTTTTCCCGAGTTGTTTGGGTTGAGTTCAGGAGAAGCATGGCCAGGTCGAGTCC
GTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGAC
TACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCA
GTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACAC
ACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTA
CAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACT
TTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTG
TGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAA
AACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAG
ATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCC
TCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAA
TTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGT
TGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTA
CAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTT
CTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATAT
GTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATAT
GTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAG
AAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTG
ACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCA
CACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGA
TTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTG
AAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACT
GGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGG
AAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAG
AAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGAT
TACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCT
ACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGG
TCAATTATAGCTTCTATTCATGGACTCAAACAATGATGACCACAAACAAACCATGGAAATTTTC
TTCGGTTAGAGTTCTGGTTGTGGATGAAGGGAGTTTGGTATCTGTAGGAATCTTCAAATCGGTC
TTAAATTTATTGTGTGAGCACTCCAAACTTTCTAAGCTTATTATCCTTGGTGACATTAGACAGT
TACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTTAAGTCAAGAAATTG
TGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGGACAATGCTACAAGA
ATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGATAATCCAACATTAC
CCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAGGATGCCAGTTCTCA
GTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTTTACTACAAGAAAAT
AACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGACTGTGATCTAATTA
ATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAGAGTAGACTTGTTTT
TGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACTTACTACCTGAAAAT
ATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTGGTACGCTTC
CTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGCAATGGAGAGATATT
TTTCATAACAAATGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTGACCATTAATAAT
ATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTCGCATAAAACATG
CATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTTGTCTATGTGGTGGG
GAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGGGCCGCTGCCGAGTG
TATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAGTTTTCCTAGAAAAA
CTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCTCCAGCAGATTTTCC
GTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAGCATCTCCACTCCCT
GTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTCTTCGCCTGATGAGA
GGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTAGATACAGATGATGA
TTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATGAAAGTCCAAGCAAA
ATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTTGAGACTGAATAATT
TAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAGTTTTATTTCAAATTGTT
CCGAGTAACTATGTTTTTCTATTGGAGACAAAATGAACATCGTAACGTCAAAGTACCAAGATAA
AAAAAGTTTCCTATAACTGGAGTTTTAAGAGATAGGGGTTCACCATGGTGCCCAGGCTGGTCTC
GAACTCCTGGACTCAGGCAGTCTGCCCACCTCGACCTCCCAAAGTGCTGGGATTACAGGTGTGA
GCCATCATGCTTGGTTCTTCTTTAATTCTTTGTAGTTTTCAGAGTATAAGTTTTGTATTTCTTT
TATTAAATTTACAATGCTCTTTGTT

hide sequence

RefSeq Acc Id:

NR_135080

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,493 - 66,338,199 (+)	NCBI
CHM1_1	12	66,663,361 - 66,699,002 (+)	NCBI
T2T-CHM13v2.0	12	66,281,949 - 66,317,650 (+)	NCBI

Sequence:

show sequence

AGGCCGTTCCCGGAAGTTGATGGCCTTACAGTCGTAGAACTGATTGGCTGATCATGACCATGCA
GTTAGCCAGGGTTTTCCCGAGTTGTTTGGGTTGAGTTCAGGAGAAGCATGGCCAGGTCGAGTCC
GTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGAC
TACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCA
GTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACAC
ACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTA
CAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACT
TTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTG
TGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAA
AACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAG
ATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCC
TCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAA
TTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGT
TGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTA
CAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTT
CTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATAT
GTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATAT
GTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAG
AAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTG
ACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCA
CACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGA
TTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTG
AAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACT
GGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGG
AAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAG
AAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGAT
TACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCT
ACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGG
TCAATTATAGCTTCTATTCATGGACTCAAACAATGATGACCACAAACAAACCATGGAAATTTTC
TTCGGTTAGAGTTCTGGTTGTGGATGAAGGGAGTTTGGTATCTGTAGGAATCTTCAAATCGGTC
TTAAATTTATTGTGTGAGCACTCCAAACTTTCTAAGCTTATTATCCTTGGTGACATTAGACAGT
TACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTTAAGTCAAGAAATTG
TGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGGACAATGCTACAAGA
ATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGATAATCCAACATTAC
CCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAGGATGCCAGTTCTCA
GTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTTTACTACAAGAAAAT
AACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGACTGTGATCTAATTA
ATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAGAGTAGACTTGTTTT
TGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACTTACTACCTGAAAAT
ATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTTTTCTGGTACGCTTC
CTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGCAATGGAGAGATATT
TTTCATAACAAATATAGAATATCTTTGAACGTATTTGAACGTAGAACATATTTGAAGGTATGCA
AAATAGTTCTTTGGTTTGGTGACAGGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTTTG
ACCATTAATAATATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTGTC
GCATAAAACATGCATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTTGT
CTATGTGGTGGGGAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGGGC
CGCTGCCGAGTGTATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAGTT
TTCCTAGAAAAACTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCTCC
AGCAGATTTTCCGTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAGCA
TCTCCACTCCCTGTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTCTT
CGCCTGATGAGAGGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTAGA
TACAGATGATGATTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATGAA
AGTCCAAGCAAAATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTTGA
GACTGAATAATTTAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAGTTTTA
TTTCAAATTGTTCCGAGTAACTATGTTTTTCTATTGGAGACAAAATGAACATCGTAACGTCAAA
GTACCAAGATAAAAAAAGTTTCCTATAA

hide sequence

RefSeq Acc Id:

NR_135081

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,493 - 66,338,199 (+)	NCBI
CHM1_1	12	66,663,361 - 66,699,002 (+)	NCBI
T2T-CHM13v2.0	12	66,281,949 - 66,317,650 (+)	NCBI

Sequence:

show sequence

AGGCCGTTCCCGGAAGTTGATGGCCTTACAGTCGTAGAACTGATTGGCTGATCATGACCATGCA
GTTAGCCAGGGTTTTCCCGAGTTGTTTGGGTTGAGTTCAGGAGAAGCATGGCCAGGTCGAGTCC
GTACCTGCGCCAACTTCAGGGACCTCTGCTCCCACCCAGGGATCTGGTGGAGGAGGACGACGAC
TACCTAAACGACGACGTGGAGGAGGATGAAGAGTCCGTGTTCATCGACGCCGAGGAGCTCTGCA
GTGGGGGCGTAAAGGCTGGCAGCCTCCCCGGGTGCCTCCGCGTTTCTATTTGTGATGAAAACAC
ACAAGAGACATGTAAAGTGTTTGGACGTTTTCCGATAACAGGTGCTTGGTGGAGAGTGAAGGTA
CAAGTAAAGCCTGTGGTGGGATCAAGGAGCTATCAATATCAAGTTCAAGGATTTCCGTCTTACT
TTTTGCAGTCTGATATGTCACCACCAAATCAAAAACATATCTGTGCTCTCTTTCTTAAAGAGTG
TGAGGTCTCCAGTGATGATGTTAATAAATTTTTAACATGGGTAAAGGAGGTATCAAACTACAAA
AACCTAAACTTTGAAAATCTTAGGGAAACACTAAGAACTTTCCACAAGGAAACTGGAAGGAAAG
ATCAAAAGCAGCCTACACAGAATGGTCAGGAAGAGTTGTTCCTAGACAATGAGATGAGTCTTCC
TCTGGAAAACACAATTCCATTTAGAAATGTAATGACAGCTTTGCAGTTTCCGAAGATAATGGAA
TTCCTTCCAGTTCTTCTGCCTCGACACTTTAAATGGATCATAGGGTCAGGTTCTAAAGAGATGT
TGAAAGAGATAGAAGAGATTTTAGGTACACATCCGTGGAAACTTGGATTTAGTAAAATAACCTA
CAGAGAGTGGAAACTCCTGCGATGTGAGGCAAGTTGGATAGCATTTTGTCAGTGTGAGTCTCTT
CTCCAGCTGATGACTGATTTGGAGAAGAATGCATTAATAATGTATTCCAGACTGAAGCAGATAT
GTAGAGAAGATGGGCACACATATGTTGAAGTGAATGACTTAACTTTGACATTGTCAAATCATAT
GTCATTTCATGCTGCTTCAGAGTCTCTGAAGTTTTTGAAGGATATTGGTGTGGTGACATATGAG
AAGTCCTGTGTCTTCCCTTATGACCTTTACCATGCTGAAAGAGCCATCGCCTTTTCAATTTGTG
ACCTGATGAAGAAACCTCCTTGGCATTTATGTGTCGATGTCGAAAAGGTGCTTGCCTCTATTCA
CACCACAAAACCTGAGAATTCAAGCGATGATGCATTGAATGAGAGCAAACCTGATGAAGTAAGA
TTAGAAAATCCTGTGGATGTTGTGGACACACAGGACAATGGTGACCATATTTGGACTAATGGTG
AAAATGAAATTAATGCAGAAATAAGTGAAGTTCAGCTGGATCAGGATCAGGTTGAAGTTCCACT
GGATCGGGATCAGGTGGCTGCTTTGGAAATGATTTGCTCCAATCCTGTGACAGTCATAAGTGGG
AAAGGTGGATGTGGGAAGACCACAATCGTTAGCCGTCTTTTTAAGCATATAGAGCAGTTGGAAG
AAAGAGAAGTAAAAAAAGCCTGTGAAGATTTTGAACAAGACCAGAATGCTTCAGAAGAATGGAT
TACCTTTACTGAGCAAAGTCAACTAGAGGCGGACAAGGCTATAGAAGTTTTGCTCACAGCACCT
ACAGGGAAAGCAGCTGGCTTACTAAGACAGAAAACTGGTCTTCATGCCTACACACTGTGTCAGG
TGACATTAGACAGTTACCCAGTATTGAACCTGGTAACTTGCTGAAAGATCTTTTTGAGACTCTT
AAGTCAAGAAATTGTGCTATTGAGCTAAAGACAAACCATAGAGCAGAATCTCAGCTCATTGTGG
ACAATGCTACAAGAATCTCAAGACGCCAATTTCCAAAATTTGATGCAGAACTAAATATCTCTGA
TAATCCAACATTACCCATCTCAATTCAAGATAAGACATTTATTTTTGTCAGGCTCCCAGAAGAG
GATGCCAGTTCTCAGTCATCTAAAACTAATCATCACTCTTGTTTATATTCTGCAGTTAAAACTT
TACTACAAGAAAATAACTTACAAAATGCAAAAACATCACAATTTATTGCATTTAGAAGGCAAGA
CTGTGATCTAATTAATGACTGCTGCTGCAAACACTACACAGGCCACCTCACCAAAGACCATCAG
AGTAGACTTGTTTTTGGAATTGGTGATAAAATTTGTTGTACCAGGAATGCATACCTCTCAGACT
TACTACCTGAAAATATCTCTGGAAGTCAGCAAAATAATGATCTAGATGCCAGTAGTGAAGACTT
TTCTGGTACGCTTCCTGATTTTGCTAAAAATAAGCGTGACTTTGAAAGTAACGTTCGACTGTGC
AATGGAGAGATATTTTTCATAACAAATGATGTAACTGATGTAACTTTTGGAAAGAGAAGATCTT
TGACCATTAATAATATGGCTGGCCTGGAAGTAACTGTGGATTTTAAGAAACTAATGAAATATTG
TCGCATAAAACATGCATGGGCAAGAACTATTCACACTTTTCAGGGGTCCGAGGAGCAAACAGTT
GTCTATGTGGTGGGGAAGGCGGGCCGCCAGCACTGGCAGCATGTCTACACCGCCGTGACCAGGG
GCCGCTGCCGAGTGTATGTGATTGCAGAGGAGTCTCAGCTCCGGAATGCCATTATGAAAAACAG
TTTTCCTAGAAAAACTCGTTTGAAACATTTCTTGCAAAGTAAGCTCTCCTCTAGCGGCGCACCT
CCAGCAGATTTTCCGTCCCCACGGAAGAGCTCTGGAGACAGTGGAGGACCCAGCACACCGTCAG
CATCTCCACTCCCTGTAGTCACAGACCACGCCATGACAAATGATGTCACCTGGAGCGAGGCCTC
TTCGCCTGATGAGAGGACACTCACCTTTGCTGAAAGATGGCAATTATCTTCACCTGATGGAGTA
GATACAGATGATGATTTACCAAAATCGCGAGCATCCAAAAGAACCTGTGGTGTGAATGATGATG
AAAGTCCAAGCAAAATTTTTATGGTGGGAGAATCTCCACAAGTGTCTTCCAGACTTCAGAATTT
GAGACTGAATAATTTAATTCCCAGGCAACTTTTCAAGCCCACCGATAATCAAGAAACTTAGTTT
TATTTCAAATTGTTCCGAGTAACTATGTTTTTCTATTGGAGACAAAATGAACATCGTAACGTCA
AAGTACCAAGATAAAAAAAGTTTCCTATAA

hide sequence

RefSeq Acc Id:

XM_047429893 ⟹ XP_047285849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,493 - 66,325,512 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001357214	(Get FASTA)	NCBI Sequence Viewer
	NP_387467	(Get FASTA)	NCBI Sequence Viewer
	XP_047285849	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAM73554	(Get FASTA)	NCBI Sequence Viewer
	BAF83583	(Get FASTA)	NCBI Sequence Viewer
	EAW97165	(Get FASTA)	NCBI Sequence Viewer
	EAW97166	(Get FASTA)	NCBI Sequence Viewer
	EAW97167	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000247815
	ENSP00000247815.5
	ENSP00000396955.2
	ENSP00000439617
	ENSP00000439617.1
	ENSP00000443287
	ENSP00000443287.1
GenBank Protein	Q8NG08	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_387467 ⟸ NM_033647

- UniProtKB:

Q4G0T2 (UniProtKB/Swiss-Prot), A8K4C9 (UniProtKB/Swiss-Prot), Q9H7L5 (UniProtKB/Swiss-Prot), Q8NG08 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MARSSPYLRQLQGPLLPPRDLVEEDDDYLNDDVEEDEESVFIDAEELCSGGVKAGSLPGCLRVS
ICDENTQETCKVFGRFPITGAWWRVKVQVKPVVGSRSYQYQVQGFPSYFLQSDMSPPNQKHICA
LFLKECEVSSDDVNKFLTWVKEVSNYKNLNFENLRETLRTFHKETGRKDQKQPTQNGQEELFLD
NEMSLPLENTIPFRNVMTALQFPKIMEFLPVLLPRHFKWIIGSGSKEMLKEIEEILGTHPWKLG
FSKITYREWKLLRCEASWIAFCQCESLLQLMTDLEKNALIMYSRLKQICREDGHTYVEVNDLTL
TLSNHMSFHAASESLKFLKDIGVVTYEKSCVFPYDLYHAERAIAFSICDLMKKPPWHLCVDVEK
VLASIHTTKPENSSDDALNESKPDEVRLENPVDVVDTQDNGDHIWTNGENEINAEISEVQLDQD
QVEVPLDRDQVAALEMICSNPVTVISGKGGCGKTTIVSRLFKHIEQLEEREVKKACEDFEQDQN
ASEEWITFTEQSQLEADKAIEVLLTAPTGKAAGLLRQKTGLHAYTLCQVNYSFYSWTQTMMTTN
KPWKFSSVRVLVVDEGSLVSVGIFKSVLNLLCEHSKLSKLIILGDIRQLPSIEPGNLLKDLFET
LKSRNCAIELKTNHRAESQLIVDNATRISRRQFPKFDAELNISDNPTLPISIQDKTFIFVRLPE
EDASSQSSKTNHHSCLYSAVKTLLQENNLQNAKTSQFIAFRRQDCDLINDCCCKHYTGHLTKDH
QSRLVFGIGDKICCTRNAYLSDLLPENISGSQQNNDLDASSEDFSGTLPDFAKNKRDFESNVRL
CNGEIFFITNDVTDVTFGKRRSLTINNMAGLEVTVDFKKLMKYCRIKHAWARTIHTFQGSEEQT
VVYVVGKAGRQHWQHVYTAVTRGRCRVYVIAEESQLRNAIMKNSFPRKTRLKHFLQSKLSSSGA
PPADFPSPRKSSGDSGGPSTPSASPLPVVTDHAMTNDVTWSEASSPDERTLTFAERWQLSSPDG
VDTDDDLPKSRASKRTCGVNDDESPSKIFMVGESPQVSSRLQNLRLNNLIPRQLFKPTDNQET

hide sequence

RefSeq Acc Id:	NP_001357214 ⟸ NM_001370285
- UniProtKB:	Q8NG08 (UniProtKB/Swiss-Prot), Q4G0T2 (UniProtKB/Swiss-Prot), A8K4C9 (UniProtKB/Swiss-Prot), Q9H7L5 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:

ENSP00000439617 ⟸ ENST00000542394

RefSeq Acc Id:

ENSP00000443287 ⟸ ENST00000545134

RefSeq Acc Id:

ENSP00000396955 ⟸ ENST00000440906

RefSeq Acc Id:

ENSP00000247815 ⟸ ENST00000247815

RefSeq Acc Id:	XP_047285849 ⟸ XM_047429893
- Peptide Label:	isoform X1
- UniProtKB:	F5H1I4 (UniProtKB/TrEMBL)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8NG08-F1-model_v2	AlphaFold	Q8NG08	1-1087	view protein structure

Promoters

RGD ID:

7224723

Promoter ID:

EPDNEW_H18108

Type:

initiation region

Name:

HELB_1

Description:

DNA helicase B

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	12	66,302,501 - 66,302,561	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17196	AgrOrtholog
COSMIC	HELB	COSMIC
Ensembl Genes	ENSG00000127311	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000247815	ENTREZGENE
	ENST00000247815.9	UniProtKB/Swiss-Prot
	ENST00000440906	ENTREZGENE
	ENST00000440906.6	UniProtKB/Swiss-Prot
	ENST00000542394	ENTREZGENE
	ENST00000542394.5	UniProtKB/TrEMBL
	ENST00000545134	ENTREZGENE
	ENST00000545134.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000127311	GTEx
HGNC ID	HGNC:17196	ENTREZGENE
Human Proteome Map	HELB	Human Proteome Map
InterPro	P-loop_NTPase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UvrD-like_helicase_C	UniProtKB/Swiss-Prot
KEGG Report	hsa:92797	UniProtKB/Swiss-Prot
NCBI Gene	92797	ENTREZGENE
OMIM	614539	OMIM
PANTHER	DNA HELICASE B	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	DNA2/NAM7 HELICASE FAMILY MEMBER	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	AAA_30	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UvrD_C_2	UniProtKB/Swiss-Prot
PharmGKB	PA134987279	PharmGKB
Superfamily-SCOP	SSF52540	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K4C9	ENTREZGENE
	F5H1I4	ENTREZGENE, UniProtKB/TrEMBL
	HELB_HUMAN	UniProtKB/Swiss-Prot
	Q4G0T2	ENTREZGENE
	Q8NG08	ENTREZGENE
	Q9H7L5	ENTREZGENE
UniProt Secondary	A8K4C9	UniProtKB/Swiss-Prot
	Q4G0T2	UniProtKB/Swiss-Prot
	Q9H7L5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-28	HELB	DNA helicase B		helicase (DNA) B	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