ZNF830 (zinc finger protein 830) - Rat Genome Database

Name: ZNF830
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: ZNF830 (zinc finger protein 830) Homo sapiens

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Symbol:

ZNF830

Name:

zinc finger protein 830

RGD ID:

1605313

HGNC Page

HGNC:28291

Description:

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to be involved in several processes, including mitotic DNA integrity checkpoint signaling; nuclear DNA replication; and preantral ovarian follicle growth. Predicted to act upstream of or within several processes, including blastocyst growth; chromosome organization; and intestinal epithelial structure maintenance. Predicted to be located in nucleoplasm. Predicted to be part of spliceosomal complex. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

CCDC16; coiled-coil domain containing 16; coiled-coil domain-containing protein 16; hypothetical protein MGC20398; MGC20398; OMCG1; orphan maintenance of genome 1; sel-13 suppressor of lin-12 homolog; SEL13

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):	Zfp830 (zinc finger protein 830)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Zfp830 (zinc finger protein 830)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Znf830 (zinc finger protein 830)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ZNF830 (zinc finger protein 830)	NCBI	Ortholog
Canis lupus familiaris (dog):	ZNF830 (zinc finger protein 830)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Znf830 (zinc finger protein 830)	NCBI	Ortholog
Chlorocebus sabaeus (green monkey):	ZNF830 (zinc finger protein 830)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Znf830 (zinc finger protein 830)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	LIG3 (DNA ligase 3)	HGNC	EggNOG, Treefam
Rattus norvegicus (Norway rat):	Npm3 (nucleophosmin/nucleoplasmin, 3)	HGNC	OMA
Alliance orthologs ³
Mus musculus (house mouse):	Zfp830 (zinc finger protein 830)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Rattus norvegicus (Norway rat):	Zfp830 (zinc finger protein 830)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	zgc:77398	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	CG11839	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Caenorhabditis elegans (roundworm):	sel-13	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	znf830	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	znf830.S	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	17	34,961,540 - 34,963,777 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	34,961,540 - 34,963,777 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,288,559 - 33,290,796 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,312,662 - 30,314,318 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,198,746 - 30,200,402 (+)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,473,657 - 29,475,313 (+)	NCBI		HuRef
CHM1_1	17	33,352,802 - 33,354,458 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	35,908,554 - 35,910,791 (+)	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

COVID-19 (HEP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(-)-epigallocatechin 3-gallate (EXP)

1,2-dimethylhydrazine (ISO)

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

2-hydroxypropanoic acid (EXP)

2-methylcholine (EXP)

aflatoxin B1 (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

copper(II) sulfate (EXP)

Dibutyl phosphate (EXP)

diquat (ISO)

epoxiconazole (ISO)

folic acid (ISO)

FR900359 (EXP)

menadione (EXP)

phenobarbital (ISO)

potassium chromate (EXP)

potassium dichromate (EXP)

rac-lactic acid (EXP)

titanium dioxide (ISO)

topotecan (ISO)

trichloroethene (ISO)

urethane (EXP)

valproic acid (EXP,ISO)

vincristine (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

blastocyst growth (IEA,ISO)

cell division (IEA)

chromosome organization (IEA,ISO)

intestinal epithelial structure maintenance (IEA,ISO)

mitotic cell cycle (IEA,ISO)

mitotic DNA damage checkpoint signaling (IBA,IEA,ISO)

mitotic DNA replication checkpoint signaling (IBA,IEA,ISS)

mRNA processing (IEA)

negative regulation of apoptotic process (IEA,ISS)

nuclear DNA replication (IBA,IEA,ISO)

ovarian follicle development (IEA,ISS)

preantral ovarian follicle growth (IEA,ISS)

RNA processing (IEA,ISS)

RNA splicing (IEA)

Cellular Component

chromosome (IEA)

nuclear speck (IEA)

nucleoplasm (TAS)

nucleus (IBA,IEA)

spliceosomal complex (IEA)

Molecular Function

metal ion binding (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

zinc ion binding (IEA)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
2.	Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients.	Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.

Additional References at PubMed

PMID:8889548	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16344560	PMID:17081983	PMID:18029348	PMID:19773279	PMID:21873635	PMID:21988832	PMID:22365833	PMID:22939629
PMID:23066043	PMID:24981860	PMID:25599396	PMID:26186194	PMID:26344197	PMID:26496610	PMID:26627737	PMID:28514442	PMID:29244158	PMID:29298432	PMID:29395067	PMID:29568061
PMID:30021884	PMID:30033366	PMID:30585729	PMID:31586073	PMID:32296183	PMID:33961781	PMID:34079125	PMID:34133714	PMID:34373451	PMID:34597346	PMID:35013218	PMID:35271311
PMID:36092721	PMID:36373674	PMID:37689310	PMID:37827155

Genomics

Comparative Map Data

ZNF830
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	17	34,961,540 - 34,963,777 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	17	34,961,540 - 34,963,777 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	17	33,288,559 - 33,290,796 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	17	30,312,662 - 30,314,318 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	17	30,198,746 - 30,200,402 (+)	NCBI		Celera
Cytogenetic Map	17	q12	NCBI
HuRef	17	29,473,657 - 29,475,313 (+)	NCBI		HuRef
CHM1_1	17	33,352,802 - 33,354,458 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	17	35,908,554 - 35,910,791 (+)	NCBI		T2T-CHM13v2.0

Zfp830
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	11	82,655,171 - 82,658,448 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	11	82,655,171 - 82,656,761 (+)	Ensembl		GRCm39 Ensembl
GRCm38	11	82,764,345 - 82,767,622 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	11	82,764,345 - 82,765,935 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	11	82,577,847 - 82,581,124 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	11	82,580,546 - 82,582,985 (+)	NCBI		MGSCv36	mm8
Celera	11	92,383,838 - 92,387,115 (+)	NCBI		Celera
Cytogenetic Map	11	C	NCBI
cM Map	11	50.22	NCBI

Zfp830
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	68,198,903 - 68,200,367 (+)	NCBI		GRCr8
mRatBN7.2	10	67,701,340 - 67,702,804 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	67,701,073 - 67,704,523 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	72,321,409 - 72,322,873 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	71,826,784 - 71,828,248 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	67,288,612 - 67,290,076 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	70,118,250 - 70,119,714 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	70,118,250 - 70,119,716 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	69,748,958 - 69,750,422 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	70,983,767 - 70,985,231 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	66,645,667 - 66,647,131 (+)	NCBI		Celera
Cytogenetic Map	10	q26	NCBI

Znf830
(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_004955481	9,661,830 - 9,662,918 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955481	9,661,791 - 9,663,326 (+)	NCBI	ChiLan1.0	ChiLan1.0

ZNF830
(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	19	29,504,048 - 29,505,587 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	17	31,385,026 - 31,386,753 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	17	21,823,998 - 21,825,632 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	17	22,115,803 - 22,117,467 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	17	22,116,304 - 22,117,482 (-)	Ensembl	panpan1.1		panPan2

ZNF830
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	9	38,382,508 - 38,384,060 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	9	38,382,900 - 38,384,015 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	9	37,605,778 - 37,607,474 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	9	39,194,915 - 39,196,611 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	9	39,195,443 - 39,196,564 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	9	37,977,329 - 37,979,024 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	9	38,263,378 - 38,265,071 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	9	38,350,630 - 38,352,326 (-)	NCBI		UU_Cfam_GSD_1.0

Znf830
(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_024405602	37,365,448 - 37,367,386 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936538	244,188 - 245,300 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936538	243,557 - 245,353 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZNF830
(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	16	28,468,548 - 28,470,150 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	16	28,468,616 - 28,469,734 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666075	1,517,782 - 1,519,565 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Znf830
(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_004624875	2,853,472 - 2,854,572 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624875	2,853,426 - 2,854,925 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZNF830
19 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	copy number gain	See cases [RCV000511439]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	copy number gain	See cases [RCV000512441]	Chr17:526..81041938 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17q12(chr17:32654402-33353332)x3	copy number gain	not provided [RCV000683919]	Chr17:32654402..33353332 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q12(chr17:32351496-34455576)x1	copy number loss	not provided [RCV000683918]	Chr17:32351496..34455576 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3	copy number gain	not provided [RCV000739320]	Chr17:7214..81058310 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3	copy number gain	not provided [RCV000739325]	Chr17:12344..81057996 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3	copy number gain	not provided [RCV000739324]	Chr17:8547..81060040 [GRCh37] Chr17:17p13.3-q25.3	pathogenic
Single allele	deletion	Neurodevelopmental disorder [RCV000787392]	Chr17:31889285..33557612 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q12(chr17:33073917-33863479)x1	copy number loss	not provided [RCV001006894]	Chr17:33073917..33863479 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17p11.2-q21.2(chr17:21690653-38772647)x3	copy number gain	not provided [RCV000846852]	Chr17:21690653..38772647 [GRCh37] Chr17:17p11.2-q21.2	pathogenic
NM_052857.4(ZNF830):c.1000G>A (p.Glu334Lys)	single nucleotide variant	not specified [RCV004204935]	Chr17:34962566 [GRCh38] Chr17:33289585 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.597G>C (p.Glu199Asp)	single nucleotide variant	not specified [RCV004076729]	Chr17:34962163 [GRCh38] Chr17:33289182 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.200A>C (p.Gln67Pro)	single nucleotide variant	not specified [RCV004107422]	Chr17:34961766 [GRCh38] Chr17:33288785 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.151C>G (p.Leu51Val)	single nucleotide variant	not specified [RCV004171922]	Chr17:34961717 [GRCh38] Chr17:33288736 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.128C>T (p.Ala43Val)	single nucleotide variant	not specified [RCV004202966]	Chr17:34961694 [GRCh38] Chr17:33288713 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.524G>C (p.Arg175Thr)	single nucleotide variant	not specified [RCV004163375]	Chr17:34962090 [GRCh38] Chr17:33289109 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.811G>A (p.Asp271Asn)	single nucleotide variant	not specified [RCV004245255]	Chr17:34962377 [GRCh38] Chr17:33289396 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.685G>A (p.Ala229Thr)	single nucleotide variant	not specified [RCV004076720]	Chr17:34962251 [GRCh38] Chr17:33289270 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.728C>G (p.Ala243Gly)	single nucleotide variant	not specified [RCV004221230]	Chr17:34962294 [GRCh38] Chr17:33289313 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.178G>A (p.Val60Ile)	single nucleotide variant	not specified [RCV004257299]	Chr17:34961744 [GRCh38] Chr17:33288763 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.55G>A (p.Glu19Lys)	single nucleotide variant	not specified [RCV004249043]	Chr17:34961621 [GRCh38] Chr17:33288640 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.619A>G (p.Asn207Asp)	single nucleotide variant	not specified [RCV004248597]	Chr17:34962185 [GRCh38] Chr17:33289204 [GRCh37] Chr17:17q12	likely benign
NM_052857.4(ZNF830):c.239C>T (p.Ala80Val)	single nucleotide variant	not specified [RCV004280672]	Chr17:34961805 [GRCh38] Chr17:33288824 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.670G>C (p.Gly224Arg)	single nucleotide variant	not specified [RCV004268557]	Chr17:34962236 [GRCh38] Chr17:33289255 [GRCh37] Chr17:17q12	uncertain significance
GRCh37/hg19 17q11.2-12(chr17:30572862-35843988)	copy number loss	Chromosome 17q12 deletion syndrome [RCV003319594]	Chr17:30572862..35843988 [GRCh37] Chr17:17q11.2-12	pathogenic
NM_052857.4(ZNF830):c.342G>C (p.Lys114Asn)	single nucleotide variant	not specified [RCV004313354]	Chr17:34961908 [GRCh38] Chr17:33288927 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.301G>A (p.Val101Ile)	single nucleotide variant	not specified [RCV004363181]	Chr17:34961867 [GRCh38] Chr17:33288886 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.569A>G (p.Lys190Arg)	single nucleotide variant	not specified [RCV004361452]	Chr17:34962135 [GRCh38] Chr17:33289154 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.533G>A (p.Gly178Glu)	single nucleotide variant	not specified [RCV004343374]	Chr17:34962099 [GRCh38] Chr17:33289118 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.578C>T (p.Ser193Leu)	single nucleotide variant	not specified [RCV004360719]	Chr17:34962144 [GRCh38] Chr17:33289163 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.1041G>C (p.Glu347Asp)	single nucleotide variant	not specified [RCV004495042]	Chr17:34962607 [GRCh38] Chr17:33289626 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.185G>A (p.Ser62Asn)	single nucleotide variant	not specified [RCV004495043]	Chr17:34961751 [GRCh38] Chr17:33288770 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.317C>T (p.Pro106Leu)	single nucleotide variant	not specified [RCV004495044]	Chr17:34961883 [GRCh38] Chr17:33288902 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.380C>G (p.Ser127Cys)	single nucleotide variant	not specified [RCV004495045]	Chr17:34961946 [GRCh38] Chr17:33288965 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.964C>T (p.Arg322Trp)	single nucleotide variant	not specified [RCV004495046]	Chr17:34962530 [GRCh38] Chr17:33289549 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.29C>T (p.Pro10Leu)	single nucleotide variant	not specified [RCV004603550]	Chr17:34961595 [GRCh38] Chr17:33288614 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.698A>C (p.Glu233Ala)	single nucleotide variant	not specified [RCV004603552]	Chr17:34962264 [GRCh38] Chr17:33289283 [GRCh37] Chr17:17q12	uncertain significance
NC_000017.10:g.(?_32908096)_(33513578_?)dup	duplication	not provided [RCV004581454]	Chr17:32908096..33513578 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.4G>T (p.Ala2Ser)	single nucleotide variant	not specified [RCV004603551]	Chr17:34961570 [GRCh38] Chr17:33288589 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.1075G>T (p.Asp359Tyr)	single nucleotide variant	not specified [RCV004606887]	Chr17:34962641 [GRCh38] Chr17:33289660 [GRCh37] Chr17:17q12	uncertain significance
NM_052857.4(ZNF830):c.542G>C (p.Ser181Thr)	single nucleotide variant	not specified [RCV004603548]	Chr17:34962108 [GRCh38] Chr17:33289127 [GRCh37] Chr17:17q12	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	294
Count of miRNA genes:	151
Interacting mature miRNAs:	159
Transcripts:	ENST00000361952, ENST00000578339
Prediction methods:	Microtar, 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
1298406	BP16_H	Blood pressure QTL 16 (human)		0.0004	Blood pressure	hypertension susceptibility	17	14778647	40778647	Human

Markers in Region

D17S1382E

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,289,931 - 33,290,074	UniSTS	GRCh37
Build 36	17	30,314,044 - 30,314,187	RGD	NCBI36
Celera	17	30,200,128 - 30,200,271	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,475,039 - 29,475,182	UniSTS

MGC20398

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,289,338 - 33,289,471	UniSTS	GRCh37
Build 36	17	30,313,451 - 30,313,584	RGD	NCBI36
Celera	17	30,199,535 - 30,199,668	RGD
HuRef	17	29,474,446 - 29,474,579	UniSTS

D17S1561

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,289,918 - 33,290,142	UniSTS	GRCh37
Build 36	17	30,314,031 - 30,314,255	RGD	NCBI36
Celera	17	30,200,115 - 30,200,339	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,475,026 - 29,475,250	UniSTS
GeneMap99-GB4 RH Map	17	296.46	UniSTS
Whitehead-RH Map	17	312.7	UniSTS
Whitehead-YAC Contig Map	17		UniSTS

SHGC-56716

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	17	33,289,449 - 33,289,540	UniSTS	GRCh37
Build 36	17	30,313,562 - 30,313,653	RGD	NCBI36
Celera	17	30,199,646 - 30,199,737	RGD
Cytogenetic Map	17	q12	UniSTS
HuRef	17	29,474,557 - 29,474,648	UniSTS
TNG Radiation Hybrid Map	17	14620.0	UniSTS

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_052857	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC022903	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI866097	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK055707	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002913	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC011584	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG766126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM720333	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM969401	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471147	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068261	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB030670	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000361952 ⟹ ENSP00000354518

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	34,961,540 - 34,963,777 (+)	Ensembl

Ensembl Acc Id:

ENST00000578339 ⟹ ENSP00000463839

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	17	34,962,365 - 34,963,186 (+)	Ensembl

RefSeq Acc Id:

NM_052857 ⟹ NP_443089

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	17	34,961,540 - 34,963,777 (+)	NCBI
GRCh37	17	33,288,549 - 33,290,205 (+)	RGD
Build 36	17	30,312,662 - 30,314,318 (+)	NCBI Archive
Celera	17	30,198,746 - 30,200,402 (+)	RGD
HuRef	17	29,473,657 - 29,475,313 (+)	RGD
CHM1_1	17	33,352,802 - 33,354,458 (+)	NCBI
T2T-CHM13v2.0	17	35,908,554 - 35,910,791 (+)	NCBI

Sequence:

show sequence

AGAATCGTTTTGGGTCTGGTCGCCAAGATGGCGTCCTCCGCCTCCGCCCGGACTCCGGCAGGGA
AGCGAGTGATAAATCAGGAAGAATTGCGGCGGTTAATGAAGGAGAAGCAGCGTCTGAGCACCAG
TCGGAAACGGATAGAATCTCCATTCGCGAAGTACAACCGTTTGGGGCAGCTGAGTTGTGCCCTG
TGTAACACTCCGGTTAAGAGCGAGCTCCTGTGGCAGACTCACGTCCTGGGAAAGCAGCACCGAG
AGAAAGTGGCCGAGCTGAAAGGCGCGAAGGAAGCCAGCCAGGGTTCGTCCGCCAGTTCAGCGCC
TCATTCCGTCAAGAGGAAAGCGCCGGACGCAGACGACCAAGATGTCAAGAGAGCGAAGGCCACC
TTGGTGCCTCAGGTACAGCCCTCCACATCTGCGTGGACCACCAACTTTGACAAAATAGGAAAGG
AGTTCATTAGAGCGACTCCCAGTAAGCCTTCAGGACTCAGTTTACTCCCCGATTATGAAGATGA
GGAGGAGGAGGAAGAGGAGGAGGAAGGAGATGGAGAAAGAAAAAGGGGGGACGCCAGCAAGCCG
CTCTCCGACGCACAGGGCAAGGAGCACTCAGTTTCCTCTTCACGGGAGGTAACAAGTAGTGTGC
TGCCAAACGATTTCTTTAGTACTAATCCTCCCAAGGCCCCCATAATTCCTCATTCAGGGTCAAT
TGAGAAAGCAGAAATACATGAAAAAGTGGTGGAAAGGAGAGAAAACACCGCGGAAGCGTTACCG
GAAGGTTTTTTTGACGACCCTGAGGTAGATGCAAGAGTACGAAAGGTTGATGCTCCAAAAGATC
AGATGGACAAAGAGTGGGACGAATTCCAAAAAGCCATGAGGCAGGTCAACACTATTTCCGAAGC
CATAGTTGCCGAAGAGGATGAGGAGGGACGGTTGGACCGCCAGATTGGGGAGATCGATGAGCAG
ATAGAGTGTTACCGACGGGTGGAAAAGCTACGGAATCGCCAGGATGAAATAAAAAATAAACTTA
AAGAAATCCTGACCATAAAAGAACTGCAGAAAAAGGAAGAAGAGAATGCTGACAGCGATGATGA
GGGGGAACTACAGGATTTGTTGTCTCAGGATTGGAGGGTGAAAGGGGCATTGTTATAGGGTTTT
AAAGACCCAAGGTTTCTAACAGCCTCTGCTGTTGTATAAAAAGTGCTGTCTCTCAGTAGTATAG
CGGTTACTTCATGCCTCAAGATTTGGGTACCTGGATTGCTAAACTGGATTGTTGAGATAAAATG
AGCCAGTGAGCTACAGCACTTTGGAAAATTTGTGTAACATGTTTTTGAGGTAAAGTTGTTTTTG
AAATTTCTGAAGTGTTATATACCAAAATGCCAACATTTCCACGACAGACTTAACTGTATAATTT
CGTTGTAAAATCTGTAAGTTGTAAATATTGTACATAGTTAAATCTGTATTCTGTTTTGAATTTT
TTTAATTAATAGAAAGACCAACCGGCAAACTTTCAGATGAATGCTTACTGTGGTATTTGGAATG
TATGTATCTTCTGAACCCTACATCAAGTTGAAAAGGTTTGTTTTCTTGTTTCTTTGGTTTTTGT
ATGGTTTTTTAGAACACTTCATAAACACATAAGTCATTGTAGGTTAATCAGTTCTCTTAGTGTG
CTTTATTTTAAAAACATAAGAAAACTATATGCCAAACATGACCAAACCAATGATGGTCAGATGT
GGTTGCACATGAGAGTCACCTATGAAGCATTAAAATAATTAAAGTGTCTGAGGCCTTCCCCTTC
AATAAATCTGGGATTGGGCCCAGGCAACTGTGTTTTTTAAGCACCCAGGTTATTCTAATATATG
CCAGGGTTAGAGAGTAACTGCCCTAAATCCAGAACCCATTTATGTTTTTCAGGTTTTTTCTTTT
TCTTTAAATAACACATTCCATAAATTTGCTGTTTCTTGAATGAAGGAAAAAATATTATCTTTTA
TTTATTTCATCCAGCCTTAAATTTTGTTATTTGGTGGTAAATTAGGGTTCCTTGTTTGCAGGTC
CTATCTATTGTAGAAAGAATATTTAAGTTGTCTTTCCAGCAGTAACAATTGGCTCTTGCTGGTC
ATTGATAGTTTAAATCACTCCTTCCTTTAGAGATTGAGGTACTCAAATAGGAAAAGGGAATTAG
CAGTGTTCTGGAGTTGAAATGCATACAGCATATTCAAATAAAAGTGAGCAATAATAATAATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_443089	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH02913	(Get FASTA)	NCBI Sequence Viewer
	AAH09044	(Get FASTA)	NCBI Sequence Viewer
	AAH11584	(Get FASTA)	NCBI Sequence Viewer
	BAB70992	(Get FASTA)	NCBI Sequence Viewer
	BAG38036	(Get FASTA)	NCBI Sequence Viewer
	EAW80200	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000354518
	ENSP00000354518.3
	ENSP00000463839.1
GenBank Protein	Q96NB3	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_443089 ⟸ NM_052857

- UniProtKB:

Q96GZ5 (UniProtKB/Swiss-Prot), Q96F60 (UniProtKB/Swiss-Prot), Q9BU38 (UniProtKB/Swiss-Prot), Q96NB3 (UniProtKB/Swiss-Prot), B2RDT9 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MASSASARTPAGKRVINQEELRRLMKEKQRLSTSRKRIESPFAKYNRLGQLSCALCNTPVKSEL
LWQTHVLGKQHREKVAELKGAKEASQGSSASSAPHSVKRKAPDADDQDVKRAKATLVPQVQPST
SAWTTNFDKIGKEFIRATPSKPSGLSLLPDYEDEEEEEEEEEGDGERKRGDASKPLSDAQGKEH
SVSSSREVTSSVLPNDFFSTNPPKAPIIPHSGSIEKAEIHEKVVERRENTAEALPEGFFDDPEV
DARVRKVDAPKDQMDKEWDEFQKAMRQVNTISEAIVAEEDEEGRLDRQIGEIDEQIECYRRVEK
LRNRQDEIKNKLKEILTIKELQKKEEENADSDDEGELQDLLSQDWRVKGALL

hide sequence

Ensembl Acc Id:

ENSP00000354518 ⟸ ENST00000361952

Ensembl Acc Id:

ENSP00000463839 ⟸ ENST00000578339

Protein Domains

U1-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96NB3-F1-model_v2	AlphaFold	Q96NB3	1-372	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:28291	AgrOrtholog
COSMIC	ZNF830	COSMIC
Ensembl Genes	ENSG00000198783	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000361952	ENTREZGENE
	ENST00000361952.5	UniProtKB/Swiss-Prot
	ENST00000578339.1	UniProtKB/TrEMBL
Gene3D-CATH	Classic Zinc Finger	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000198783	GTEx
HGNC ID	HGNC:28291	ENTREZGENE
Human Proteome Map	ZNF830	Human Proteome Map
InterPro	Matrin/U1-like-C_Znf_C2H2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZNF830	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C2H2_type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:91603	UniProtKB/Swiss-Prot
NCBI Gene	91603	ENTREZGENE
PANTHER	PTHR13278	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZINC FINGER PROTEIN 830	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	zf-met	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA162410767	PharmGKB
PROSITE	ZINC_FINGER_C2H2_1	UniProtKB/Swiss-Prot
SMART	ZnF_U1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	beta-beta-alpha zinc fingers	UniProtKB/TrEMBL, UniProtKB/Swiss-Prot
UniProt	B2RDT9	ENTREZGENE, UniProtKB/TrEMBL
	J3QQQ3_HUMAN	UniProtKB/TrEMBL
	Q96F60	ENTREZGENE
	Q96GZ5	ENTREZGENE
	Q96NB3	ENTREZGENE
	Q9BU38	ENTREZGENE
	ZN830_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q96F60	UniProtKB/Swiss-Prot
	Q96GZ5	UniProtKB/Swiss-Prot
	Q9BU38	UniProtKB/Swiss-Prot

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