ATP13A1 (ATPase 13A1) - Rat Genome Database

Name: ATP13A1
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: ATP13A1 (ATPase 13A1) Homo sapiens

Analyze

Symbol:

ATP13A1

Name:

ATPase 13A1

RGD ID:

1346886

HGNC Page

HGNC:24215

Description:

Enables membrane protein dislocase activity. Involved in extraction of mislocalized protein from ER membrane. Located in membrane.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

ATP13A; ATPase type 13A1; cation transporting ATPase; CGI-152; DKFZp761L1623; endoplasmic reticulum P5A-ATPase; endoplasmic reticulum transmembrane helix translocase; FLJ31858; FLJ41786; FLJ43873; FLJ90317; KIAA1825; manganese-transporting ATPase 13A1; probable cation-transporting ATPase 13A1

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):	Atp13a1 (ATPase type 13A1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Atp13a1 (ATPase 13A1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Atp13a1 (ATPase 13A1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ATP13A1 (ATPase 13A1)	NCBI	Ortholog
Canis lupus familiaris (dog):	ATP13A1 (ATPase 13A1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Atp13a1 (ATPase 13A1)	NCBI	Ortholog
Sus scrofa (pig):	ATP13A1 (ATPase 13A1)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	ATP13A1 (ATPase 13A1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Atp13a1 (ATPase 13A1)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Arhgef2 (Rho/Rac guanine nucleotide exchange factor 2)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Atp13a1 (ATPase 13A1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Atp13a1 (ATPase type 13A1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	atp13a1 (ATPase 13A1)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Drosophila melanogaster (fruit fly):	CG6230	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Saccharomyces cerevisiae (baker's yeast):	SPF1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Caenorhabditis elegans (roundworm):	catp-8	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	atp13a1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	atp13a1.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	19	19,645,198 - 19,663,676 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	19,645,198 - 19,663,676 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	19,756,007 - 19,774,485 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	19,617,009 - 19,633,925 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	19,617,008 - 19,633,925	NCBI
Celera	19	19,660,082 - 19,678,574 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	19,318,428 - 19,336,925 (-)	NCBI		HuRef
CHM1_1	19	19,757,093 - 19,775,596 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	19,782,708 - 19,801,186 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

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

2,6-dinitrotoluene (ISO)

3-chloropropane-1,2-diol (ISO)

4,4'-diaminodiphenylmethane (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

Bisphenol B (EXP)

cadmium dichloride (ISO)

caffeine (EXP)

chlorpyrifos (ISO)

cisplatin (EXP)

clofibric acid (ISO)

crocidolite asbestos (EXP)

diazinon (ISO)

dicrotophos (EXP)

doxorubicin (EXP)

epoxiconazole (ISO)

fenthion (ISO)

flutamide (ISO)

FR900359 (EXP)

gentamycin (ISO)

glyphosate (ISO)

inulin (ISO)

ivermectin (EXP)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

paracetamol (EXP,ISO)

perfluorooctane-1-sulfonic acid (ISO)

pirinixic acid (ISO)

quercetin (EXP)

resveratrol (ISO)

temozolomide (EXP)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

extraction of mislocalized protein from ER membrane (IBA,IDA)

intracellular calcium ion homeostasis (IBA)

manganese ion transmembrane transport (IEA)

monoatomic cation transmembrane transport (IEA)

monoatomic ion transmembrane transport (TAS)

protein transport (IEA)

transmembrane transport (IBA,IEA)

Cellular Component

endoplasmic reticulum (IEA)

endoplasmic reticulum membrane (IBA,IEA,ISS,TAS)

membrane (HDA,IEA)

Molecular Function

ABC-type manganese transporter activity (TAS)

ATP binding (IEA)

ATP hydrolysis activity (IEA)

ATPase-coupled monoatomic cation transmembrane transporter activity (IBA)

membrane protein dislocase activity (IBA,IDA,IEA)

metal ion binding (IEA)

P-type ion transporter activity (IBA)

P-type transmembrane transporter activity (IEA)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Esophageal atresia (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:11347906	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16335952	PMID:16344560	PMID:17081983	PMID:19913121	PMID:19946888	PMID:20628086	PMID:21873635	PMID:21988832
PMID:22810586	PMID:23864651	PMID:25343990	PMID:25921289	PMID:26186194	PMID:26344197	PMID:26638075	PMID:27342126	PMID:28298427	PMID:28514442	PMID:28533407	PMID:28692057
PMID:28986522	PMID:29357390	PMID:29509190	PMID:29961565	PMID:30404004	PMID:30948266	PMID:31056421	PMID:31073040	PMID:31091453	PMID:31527615	PMID:31871319	PMID:31980649
PMID:32296183	PMID:32344865	PMID:32513696	PMID:32614325	PMID:32694731	PMID:32788342	PMID:32973005	PMID:33024031	PMID:33060197	PMID:33845483	PMID:33957083	PMID:33961781
PMID:34079125	PMID:34186245	PMID:34226595	PMID:34373451	PMID:34597346	PMID:34672954	PMID:34968463	PMID:35013556	PMID:35271311	PMID:35748872	PMID:35914814	PMID:35944360
PMID:36114006	PMID:36215168	PMID:36217030	PMID:36244648	PMID:36264797	PMID:36610398	PMID:36949045	PMID:37774976	PMID:37827155

Genomics

Comparative Map Data

ATP13A1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	19,645,198 - 19,663,676 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	19,645,198 - 19,663,676 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	19,756,007 - 19,774,485 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	19,617,009 - 19,633,925 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	19	19,617,008 - 19,633,925	NCBI
Celera	19	19,660,082 - 19,678,574 (-)	NCBI		Celera
Cytogenetic Map	19	p13.11	NCBI
HuRef	19	19,318,428 - 19,336,925 (-)	NCBI		HuRef
CHM1_1	19	19,757,093 - 19,775,596 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	19,782,708 - 19,801,186 (-)	NCBI		T2T-CHM13v2.0

Atp13a1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	70,243,813 - 70,260,399 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	8	70,243,813 - 70,260,399 (+)	Ensembl		GRCm39 Ensembl
GRCm38	8	69,791,163 - 69,807,749 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	69,791,163 - 69,807,749 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	72,315,062 - 72,331,648 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	8	72,720,223 - 72,736,734 (+)	NCBI		MGSCv36	mm8
Celera	8	72,342,175 - 72,358,761 (+)	NCBI		Celera
Cytogenetic Map	8	B3.3	NCBI
cM Map	8	33.88	NCBI

Atp13a1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	16	19,649,065 - 19,665,126 (-)	NCBI		GRCr8
mRatBN7.2	16	19,615,156 - 19,631,546 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	16	19,615,160 - 19,631,214 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	16	19,656,960 - 19,673,119 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	16	20,794,949 - 20,811,107 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	16	19,709,941 - 19,726,100 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	16	21,364,087 - 21,380,142 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	21,364,101 - 21,380,331 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	21,278,076 - 21,294,131 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	16	20,100,481 - 20,116,536 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	16	20,100,478 - 20,117,029 (-)	NCBI
Celera	16	19,804,187 - 19,820,230 (-)	NCBI		Celera
Cytogenetic Map	16	p14	NCBI

Atp13a1
(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_004955524	2,365,646 - 2,378,253 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955524	2,365,605 - 2,378,459 (+)	NCBI	ChiLan1.0	ChiLan1.0

ATP13A1
(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	20	24,506,350 - 24,525,791 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	23,512,804 - 23,531,679 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	19,082,441 - 19,100,915 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	20,078,314 - 20,095,715 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	20,078,319 - 20,095,721 (-)	Ensembl	panpan1.1		panPan2

ATP13A1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	20	43,618,574 - 43,634,999 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	20	43,618,589 - 43,635,000 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	20	43,534,160 - 43,550,585 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	20	44,104,027 - 44,120,452 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	20	44,104,015 - 44,120,460 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	20	43,341,948 - 43,358,372 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	20	43,751,241 - 43,767,666 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	20	44,027,140 - 44,043,565 (+)	NCBI		UU_Cfam_GSD_1.0

Atp13a1
(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_024405118	202,293,877 - 202,310,240 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936596	1,842,480 - 1,859,389 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936596	1,842,469 - 1,859,379 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ATP13A1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	2	58,267,709 - 58,285,378 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	2	58,267,489 - 58,285,383 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	2	58,410,649 - 58,428,080 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ATP13A1
(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	6	18,103,954 - 18,122,230 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	18,103,942 - 18,115,580 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666074	1,176,785 - 1,195,082 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Atp13a1
(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_004624908	2,369,461 - 2,382,647 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624908	2,369,302 - 2,382,364 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ATP13A1
79 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	copy number gain	See cases [RCV000050635]	Chr19:17176767..34924150 [GRCh38] Chr19:17287576..35415054 [GRCh37] Chr19:17148576..40106894 [NCBI36] Chr19:19p13.11-q13.11	pathogenic
GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	copy number gain	See cases [RCV000052912]	Chr19:13974677..27839676 [GRCh38] Chr19:14085489..28330584 [GRCh37] Chr19:13946489..33022424 [NCBI36] Chr19:19p13.12-q11	pathogenic
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	copy number gain	See cases [RCV000136696]	Chr19:15133594..24193591 [GRCh38] Chr19:15244405..24376393 [GRCh37] Chr19:15105405..24168233 [NCBI36] Chr19:19p13.12-12	pathogenic\|likely pathogenic
chr19:19230868-24115369 complex variant	complex	Breast ductal adenocarcinoma [RCV000207223]	Chr19:19230868..24115369 [GRCh37] Chr19:19p13.11-12	uncertain significance
GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3	copy number gain	not provided [RCV000752593]	Chr19:16526787..24631604 [GRCh37] Chr19:19p13.11-11	pathogenic
NM_020410.3(ATP13A1):c.2833A>C (p.Ser945Arg)	single nucleotide variant	not specified [RCV004315130]	Chr19:19647489 [GRCh38] Chr19:19758298 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_020410.3(ATP13A1):c.1994C>T (p.Ser665Phe)	single nucleotide variant	not specified [RCV004298633]	Chr19:19653890 [GRCh38] Chr19:19764699 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
NM_020410.3(ATP13A1):c.1122C>T (p.Asp374=)	single nucleotide variant	not provided [RCV000929467]	Chr19:19656145 [GRCh38] Chr19:19766954 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.672C>G (p.Ser224Arg)	single nucleotide variant	not provided [RCV000892119]	Chr19:19659606 [GRCh38] Chr19:19770415 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.496G>A (p.Gly166Arg)	single nucleotide variant	not provided [RCV000971963]	Chr19:19659782 [GRCh38] Chr19:19770591 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.2610C>T (p.Gly870=)	single nucleotide variant	not provided [RCV000949060]	Chr19:19649589 [GRCh38] Chr19:19760398 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.1068C>T (p.Ser356=)	single nucleotide variant	not provided [RCV000949061]	Chr19:19656675 [GRCh38] Chr19:19767484 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.3256C>G (p.Gln1086Glu)	single nucleotide variant	not provided [RCV000948475]	Chr19:19645978 [GRCh38] Chr19:19756787 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.2643C>T (p.Leu881=)	single nucleotide variant	not provided [RCV000929623]	Chr19:19647749 [GRCh38] Chr19:19758558 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.2364C>T (p.Asp788=)	single nucleotide variant	not provided [RCV000965432]	Chr19:19649912 [GRCh38] Chr19:19760721 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.3576G>A (p.Gln1192=)	single nucleotide variant	not provided [RCV000894339]	Chr19:19645461 [GRCh38] Chr19:19756270 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.875G>A (p.Arg292Gln)	single nucleotide variant	not specified [RCV004283950]	Chr19:19657025 [GRCh38] Chr19:19767834 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1666G>A (p.Glu556Lys)	single nucleotide variant	not provided [RCV000963704]	Chr19:19654690 [GRCh38] Chr19:19765499 [GRCh37] Chr19:19p13.11	benign
GRCh37/hg19 19p13.11(chr19:19709006-19793143)x1	copy number loss	not provided [RCV000848096]	Chr19:19709006..19793143 [GRCh37] Chr19:19p13.11	uncertain significance
GRCh37/hg19 19p13.11(chr19:19560981-19962412)x3	copy number gain	not provided [RCV000849580]	Chr19:19560981..19962412 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3243C>T (p.Pro1081=)	single nucleotide variant	not provided [RCV000916910]	Chr19:19646210 [GRCh38] Chr19:19757019 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.1790C>T (p.Ala597Val)	single nucleotide variant	Esophageal atresia [RCV000984716]	Chr19:19654566 [GRCh38] Chr19:19765375 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.33G>T (p.Val11=)	single nucleotide variant	not provided [RCV000919758]	Chr19:19663634 [GRCh38] Chr19:19774443 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.3189T>G (p.Phe1063Leu)	single nucleotide variant	not provided [RCV000963020]	Chr19:19646264 [GRCh38] Chr19:19757073 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.810A>G (p.Leu270=)	single nucleotide variant	not provided [RCV000890840]	Chr19:19657090 [GRCh38] Chr19:19767899 [GRCh37] Chr19:19p13.11	benign
NM_020410.3(ATP13A1):c.2640G>T (p.Ala880=)	single nucleotide variant	not provided [RCV000889163]	Chr19:19647752 [GRCh38] Chr19:19758561 [GRCh37] Chr19:19p13.11	benign
GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	copy number gain	not provided [RCV001259370]	Chr19:14286624..20956753 [GRCh37] Chr19:19p13.12-12	pathogenic
GRCh37/hg19 19p13.11-q13.2(chr19:19546923-41313229)x3	copy number gain	Specific learning disability [RCV001801194]	Chr19:19546923..41313229 [GRCh37] Chr19:19p13.11-q13.2	pathogenic
NM_020410.3(ATP13A1):c.2224C>T (p.Arg742Trp)	single nucleotide variant	not specified [RCV004305291]	Chr19:19652597 [GRCh38] Chr19:19763406 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1998G>C (p.Gln666His)	single nucleotide variant	not specified [RCV004310886]	Chr19:19653886 [GRCh38] Chr19:19764695 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.94C>A (p.Pro32Thr)	single nucleotide variant	not specified [RCV004237722]	Chr19:19663573 [GRCh38] Chr19:19774382 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.937G>T (p.Ala313Ser)	single nucleotide variant	not specified [RCV004165574]	Chr19:19656886 [GRCh38] Chr19:19767695 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.980G>A (p.Arg327His)	single nucleotide variant	not specified [RCV004108916]	Chr19:19656763 [GRCh38] Chr19:19767572 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2732C>G (p.Ser911Cys)	single nucleotide variant	not specified [RCV004117165]	Chr19:19647660 [GRCh38] Chr19:19758469 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2027C>T (p.Thr676Ile)	single nucleotide variant	not specified [RCV004245751]	Chr19:19653857 [GRCh38] Chr19:19764666 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.272G>A (p.Ser91Asn)	single nucleotide variant	not specified [RCV004210629]	Chr19:19663395 [GRCh38] Chr19:19774204 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1221C>A (p.Asp407Glu)	single nucleotide variant	not specified [RCV004111994]	Chr19:19655926 [GRCh38] Chr19:19766735 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3198C>A (p.Phe1066Leu)	single nucleotide variant	not specified [RCV004154105]	Chr19:19646255 [GRCh38] Chr19:19757064 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2515C>T (p.Arg839Cys)	single nucleotide variant	not specified [RCV004129919]	Chr19:19649761 [GRCh38] Chr19:19760570 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.29C>T (p.Ala10Val)	single nucleotide variant	not specified [RCV004108637]	Chr19:19663638 [GRCh38] Chr19:19774447 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.43G>A (p.Ala15Thr)	single nucleotide variant	not specified [RCV004206592]	Chr19:19663624 [GRCh38] Chr19:19774433 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3437T>C (p.Ile1146Thr)	single nucleotide variant	not specified [RCV004144288]	Chr19:19645714 [GRCh38] Chr19:19756523 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2374G>A (p.Val792Met)	single nucleotide variant	not specified [RCV004189326]	Chr19:19649902 [GRCh38] Chr19:19760711 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2687C>T (p.Pro896Leu)	single nucleotide variant	not specified [RCV004102432]	Chr19:19647705 [GRCh38] Chr19:19758514 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2651A>G (p.Asn884Ser)	single nucleotide variant	not specified [RCV004070001]	Chr19:19647741 [GRCh38] Chr19:19758550 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.574G>A (p.Val192Met)	single nucleotide variant	not specified [RCV004163792]	Chr19:19659704 [GRCh38] Chr19:19770513 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.836C>T (p.Ser279Leu)	single nucleotide variant	not specified [RCV004163164]	Chr19:19657064 [GRCh38] Chr19:19767873 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.17C>T (p.Ala6Val)	single nucleotide variant	not specified [RCV004223080]	Chr19:19663650 [GRCh38] Chr19:19774459 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.248C>T (p.Ala83Val)	single nucleotide variant	not specified [RCV004186285]	Chr19:19663419 [GRCh38] Chr19:19774228 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1660G>A (p.Gly554Arg)	single nucleotide variant	not specified [RCV004158869]	Chr19:19654696 [GRCh38] Chr19:19765505 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.638C>T (p.Ser213Leu)	single nucleotide variant	not specified [RCV004132417]	Chr19:19659640 [GRCh38] Chr19:19770449 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2084A>T (p.His695Leu)	single nucleotide variant	not specified [RCV004195546]	Chr19:19653800 [GRCh38] Chr19:19764609 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.682G>A (p.Glu228Lys)	single nucleotide variant	not specified [RCV004069213]	Chr19:19657404 [GRCh38] Chr19:19768213 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1103G>A (p.Ser368Asn)	single nucleotide variant	not specified [RCV004159418]	Chr19:19656164 [GRCh38] Chr19:19766973 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2512G>A (p.Ala838Thr)	single nucleotide variant	not specified [RCV004078462]	Chr19:19649764 [GRCh38] Chr19:19760573 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.392C>T (p.Thr131Ile)	single nucleotide variant	not specified [RCV004170297]	Chr19:19663275 [GRCh38] Chr19:19774084 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3221G>A (p.Arg1074His)	single nucleotide variant	not specified [RCV004148066]	Chr19:19646232 [GRCh38] Chr19:19757041 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.416C>T (p.Ala139Val)	single nucleotide variant	not specified [RCV004100124]	Chr19:19659968 [GRCh38] Chr19:19770777 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3551C>T (p.Ala1184Val)	single nucleotide variant	not specified [RCV004169781]	Chr19:19645486 [GRCh38] Chr19:19756295 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2650A>G (p.Asn884Asp)	single nucleotide variant	not specified [RCV004092927]	Chr19:19647742 [GRCh38] Chr19:19758551 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1139G>A (p.Arg380Gln)	single nucleotide variant	not specified [RCV004174635]	Chr19:19656128 [GRCh38] Chr19:19766937 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2948C>T (p.Thr983Ile)	single nucleotide variant	not specified [RCV004168390]	Chr19:19647286 [GRCh38] Chr19:19758095 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.40G>A (p.Gly14Arg)	single nucleotide variant	not specified [RCV004101738]	Chr19:19663627 [GRCh38] Chr19:19774436 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3163A>G (p.Ile1055Val)	single nucleotide variant	not specified [RCV004089256]	Chr19:19646290 [GRCh38] Chr19:19757099 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.2431C>T (p.Leu811Phe)	single nucleotide variant	not specified [RCV004279824]	Chr19:19649845 [GRCh38] Chr19:19760654 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3158A>G (p.Tyr1053Cys)	single nucleotide variant	not specified [RCV004256253]	Chr19:19646295 [GRCh38] Chr19:19757104 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1078A>T (p.Met360Leu)	single nucleotide variant	not specified [RCV004257575]	Chr19:19656665 [GRCh38] Chr19:19767474 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.377G>C (p.Cys126Ser)	single nucleotide variant	not specified [RCV004280332]	Chr19:19663290 [GRCh38] Chr19:19774099 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3495C>G (p.Ile1165Met)	single nucleotide variant	not specified [RCV004269838]	Chr19:19645656 [GRCh38] Chr19:19756465 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.394C>G (p.Pro132Ala)	single nucleotide variant	not specified [RCV004276620]	Chr19:19663273 [GRCh38] Chr19:19774082 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2816G>A (p.Arg939Gln)	single nucleotide variant	not specified [RCV004249904]	Chr19:19647506 [GRCh38] Chr19:19758315 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2951C>T (p.Thr984Met)	single nucleotide variant	not specified [RCV004264375]	Chr19:19647283 [GRCh38] Chr19:19758092 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3244G>A (p.Glu1082Lys)	single nucleotide variant	not specified [RCV004271155]	Chr19:19646209 [GRCh38] Chr19:19757018 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.517G>A (p.Glu173Lys)	single nucleotide variant	not specified [RCV004257902]	Chr19:19659761 [GRCh38] Chr19:19770570 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2701A>G (p.Thr901Ala)	single nucleotide variant	not specified [RCV004252813]	Chr19:19647691 [GRCh38] Chr19:19758500 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.176T>C (p.Leu59Ser)	single nucleotide variant	not specified [RCV004328257]	Chr19:19663491 [GRCh38] Chr19:19774300 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2671G>A (p.Glu891Lys)	single nucleotide variant	not specified [RCV004290078]	Chr19:19647721 [GRCh38] Chr19:19758530 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1333T>C (p.Phe445Leu)	single nucleotide variant	not specified [RCV004335283]	Chr19:19655591 [GRCh38] Chr19:19766400 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1145A>G (p.His382Arg)	single nucleotide variant	not specified [RCV004350565]	Chr19:19656122 [GRCh38] Chr19:19766931 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.67G>A (p.Asp23Asn)	single nucleotide variant	not specified [RCV004353244]	Chr19:19663600 [GRCh38] Chr19:19774409 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2443G>A (p.Gly815Ser)	single nucleotide variant	not specified [RCV004342418]	Chr19:19649833 [GRCh38] Chr19:19760642 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2471C>T (p.Pro824Leu)	single nucleotide variant	not specified [RCV004364034]	Chr19:19649805 [GRCh38] Chr19:19760614 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.275G>T (p.Ser92Ile)	single nucleotide variant	not specified [RCV004348869]	Chr19:19663392 [GRCh38] Chr19:19774201 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1590C>T (p.Cys530=)	single nucleotide variant	not provided [RCV003423469]	Chr19:19655184 [GRCh38] Chr19:19765993 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.1308G>A (p.Arg436=)	single nucleotide variant	not provided [RCV003423470]	Chr19:19655616 [GRCh38] Chr19:19766425 [GRCh37] Chr19:19p13.11	likely benign
NM_020410.3(ATP13A1):c.3054C>G (p.Thr1018=)	single nucleotide variant	not provided [RCV003415162]	Chr19:19647180 [GRCh38] Chr19:19757989 [GRCh37] Chr19:19p13.11	likely benign
GRCh37/hg19 19p13.11-12(chr19:18926463-21100330)x1	copy number loss	not specified [RCV003986109]	Chr19:18926463..21100330 [GRCh37] Chr19:19p13.11-12	uncertain significance
NM_020410.3(ATP13A1):c.1744G>A (p.Asp582Asn)	single nucleotide variant	not specified [RCV004425744]	Chr19:19654612 [GRCh38] Chr19:19765421 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3568G>A (p.Val1190Ile)	single nucleotide variant	not specified [RCV004425753]	Chr19:19645469 [GRCh38] Chr19:19756278 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1030C>A (p.Arg344Ser)	single nucleotide variant	not specified [RCV004425738]	Chr19:19656713 [GRCh38] Chr19:19767522 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1202C>T (p.Thr401Met)	single nucleotide variant	not specified [RCV004425740]	Chr19:19656065 [GRCh38] Chr19:19766874 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1706G>A (p.Arg569Gln)	single nucleotide variant	not specified [RCV004425742]	Chr19:19654650 [GRCh38] Chr19:19765459 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.413A>G (p.Lys138Arg)	single nucleotide variant	not specified [RCV004425754]	Chr19:19659971 [GRCh38] Chr19:19770780 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.964A>G (p.Ile322Val)	single nucleotide variant	not specified [RCV004425759]	Chr19:19656859 [GRCh38] Chr19:19767668 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1393G>C (p.Glu465Gln)	single nucleotide variant	not specified [RCV004425741]	Chr19:19655531 [GRCh38] Chr19:19766340 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1737G>C (p.Gln579His)	single nucleotide variant	not specified [RCV004425743]	Chr19:19654619 [GRCh38] Chr19:19765428 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2383C>A (p.Leu795Met)	single nucleotide variant	not specified [RCV004425747]	Chr19:19649893 [GRCh38] Chr19:19760702 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.50C>T (p.Pro17Leu)	single nucleotide variant	not specified [RCV004425755]	Chr19:19663617 [GRCh38] Chr19:19774426 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1045G>A (p.Glu349Lys)	single nucleotide variant	not specified [RCV003988746]	Chr19:19656698 [GRCh38] Chr19:19767507 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.1039G>A (p.Val347Ile)	single nucleotide variant	not specified [RCV004425739]	Chr19:19656704 [GRCh38] Chr19:19767513 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2257A>G (p.Thr753Ala)	single nucleotide variant	not specified [RCV004425745]	Chr19:19651767 [GRCh38] Chr19:19762576 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2420A>G (p.Tyr807Cys)	single nucleotide variant	not specified [RCV004425748]	Chr19:19649856 [GRCh38] Chr19:19760665 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3262G>A (p.Val1088Met)	single nucleotide variant	not specified [RCV004425749]	Chr19:19645972 [GRCh38] Chr19:19756781 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3565C>T (p.Arg1189Cys)	single nucleotide variant	not specified [RCV004425751]	Chr19:19645472 [GRCh38] Chr19:19756281 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.85G>T (p.Gly29Trp)	single nucleotide variant	not specified [RCV004425758]	Chr19:19663582 [GRCh38] Chr19:19774391 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.2343G>T (p.Gln781His)	single nucleotide variant	not specified [RCV004425746]	Chr19:19649933 [GRCh38] Chr19:19760742 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3445C>T (p.Leu1149Phe)	single nucleotide variant	not specified [RCV004425750]	Chr19:19645706 [GRCh38] Chr19:19756515 [GRCh37] Chr19:19p13.11	uncertain significance
NM_020410.3(ATP13A1):c.3097C>T (p.Arg1033Cys)	single nucleotide variant	not specified [RCV004349431]	Chr19:19647137 [GRCh38] Chr19:19757946 [GRCh37] Chr19:19p13.11	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	5397
Count of miRNA genes:	986
Interacting mature miRNAs:	1224
Transcripts:	ENST00000291503, ENST00000357324, ENST00000455627, ENST00000467160, ENST00000469641, ENST00000471063, ENST00000473243, ENST00000474955, ENST00000487364, ENST00000491221, ENST00000492774, ENST00000496082, ENST00000497156, ENST00000497556, ENST00000497762
Prediction methods:	Microtar, 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

RH98505

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	19,756,125 - 19,756,249	UniSTS	GRCh37
Build 36	19	19,617,125 - 19,617,249	RGD	NCBI36
Celera	19	19,660,200 - 19,660,324	RGD
Cytogenetic Map	19	p13.11	UniSTS
HuRef	19	19,318,546 - 19,318,670	UniSTS
GeneMap99-GB4 RH Map	19	105.51	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

2435

2604

1629

531

1856

372

4141

1743

3362

370

1457

1605

175

1204

2575

Low

387

216

454

372

213

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_020410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AB058728	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC011458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF288687	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026044	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK056420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074798	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK095287	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK123780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK130125	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK172778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL834180	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009302	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC069211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471106	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA103408	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000291503 ⟹ ENSP00000291503

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,200 - 19,662,116 (-)	Ensembl

RefSeq Acc Id:

ENST00000357324 ⟹ ENSP00000349877

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,198 - 19,663,676 (-)	Ensembl

RefSeq Acc Id:

ENST00000455627 ⟹ ENSP00000411891

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,657,102 - 19,663,232 (-)	Ensembl

RefSeq Acc Id:

ENST00000467160

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,198 - 19,647,711 (-)	Ensembl

RefSeq Acc Id:

ENST00000469641

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,203 - 19,653,396 (-)	Ensembl

RefSeq Acc Id:

ENST00000471063

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,653,718 - 19,654,562 (-)	Ensembl

RefSeq Acc Id:

ENST00000473243

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,203 - 19,656,732 (-)	Ensembl

RefSeq Acc Id:

ENST00000474955

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,655,544 - 19,659,744 (-)	Ensembl

RefSeq Acc Id:

ENST00000487364

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,659,941 - 19,663,673 (-)	Ensembl

RefSeq Acc Id:

ENST00000491221

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,651,140 - 19,653,936 (-)	Ensembl

RefSeq Acc Id:

ENST00000492774

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,656,886 - 19,659,745 (-)	Ensembl

RefSeq Acc Id:

ENST00000496082

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,653,777 - 19,655,584 (-)	Ensembl

RefSeq Acc Id:

ENST00000497156

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,653,777 - 19,655,451 (-)	Ensembl

RefSeq Acc Id:

ENST00000497556

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,645,203 - 19,655,451 (-)	Ensembl

RefSeq Acc Id:

ENST00000497762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	19,654,543 - 19,655,685 (-)	Ensembl

RefSeq Acc Id:

NM_020410 ⟹ NP_065143

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	19,645,198 - 19,663,676 (-)	NCBI
GRCh37	19	19,756,007 - 19,774,512 (-)	NCBI
Build 36	19	19,617,009 - 19,633,925 (-)	NCBI Archive
Celera	19	19,660,082 - 19,678,574 (-)	RGD
HuRef	19	19,318,428 - 19,336,925 (-)	RGD
CHM1_1	19	19,757,093 - 19,775,596 (-)	NCBI
T2T-CHM13v2.0	19	19,782,708 - 19,801,186 (-)	NCBI

Sequence:

show sequence

GCTAGGAAAGATGGCGGCAGCGGCGGCGGTGGGCAACGCGGTGCCCTGCGGGGCCCGGCCTTGC
GGGGTCCGGCCTGACGGGCAGCCCAAGCCCGGGCCGCAGCCGCGCGCGCTCCTTGCCGCCGGGC
CGGCGCTCATAGCGAACGGTGACGAGCTGGTGGCTGCCGTGTGGCCGTACCGGCGGTTGGCGCT
GTTGCGGCGCCTCACGGTGCTGCCATTCGCCGGGCTGCTTTACCCGGCCTGGTTGGGTGCCGCA
GCCGCTGGCTGCTGGGGCTGGGGCAGCAGTTGGGTGCAGATCCCCGAAGCTGCGCTGCTCGTGC
TTGCCACCATCTGCCTCGCGCACGCGCTCACTGTCCTCTCGGGGCATTGGTCTGTGCACGCGCA
TTGCGCGCTCACCTGCACCCCGGAGTACGACCCCAGCAAAGCGACCTTTGTGAAGGTGGTGCCA
ACCCCCAACAATGGCTCCACGGAGCTCGTGGCCCTGCACCGCAATGAGGGCGAAGACGGGCTTG
AGGTGCTGTCCTTCGAATTCCAGAAGATCAAGTATTCCTACGATGCCCTGGAGAAGAAGCAGTT
TCTCCCCGTGGCCTTTCCTGTGGGAAACGCCTTCTCATACTATCAGAGCAACAGAGGCTTCCAG
GAAGACTCAGAGATCCGAGCAGCTGAGAAGAAATTTGGGAGCAACAAGGCCGAGATGGTGGTGC
CTGACTTCTCGGAGCTTTTCAAGGAGAGAGCCACAGCCCCCTTCTTTGTATTTCAGGTGTTCTG
TGTGGGGCTCTGGTGCCTGGATGAGTACTGGTACTACAGCGTCTTTACGCTATCCATGCTGGTG
GCGTTCGAGGCCTCGCTGGTGCAGCAGCAGATGCGGAACATGTCGGAGATCCGGAAGATGGGCA
ACAAGCCCCACATGATCCAGGTCTACCGAAGCCGCAAGTGGAGGCCCATTGCCAGTGATGAGAT
CGTACCAGGGGACATCGTCTCCATCGGCCGCTCCCCACAGGAGAACCTGGTGCCATGTGACGTG
CTTCTGCTGCGAGGCCGCTGCATCGTAGACGAGGCCATGCTCACGGGGGAGTCCGTGCCACAGA
TGAAGGAGCCCATCGAAGACCTCAGCCCAGACCGGGTGCTGGACCTCCAGGCTGATTCCCGGCT
GCACGTCATCTTCGGGGGCACCAAGGTGGTGCAGCACATCCCCCCACAGAAAGCCACCACGGGC
CTGAAGCCGGTTGACAGCGGGTGCGTGGCCTACGTCCTGCGGACCGGATTCAACACATCCCAGG
GCAAGCTGCTGCGCACCATCCTCTTCGGGGTCAAGAGGGTGACTGCGAACAACCTGGAGACCTT
CATCTTCATCCTCTTCCTCCTGGTGTTTGCCATCGCTGCAGCTGCCTATGTATGGATTGAAGGT
ACCAAGGACCCCAGCCGGAACCGCTACAAGCTGTTTCTGGAGTGCACCCTGATCCTCACCTCGG
TCGTGCCTCCTGAGCTGCCCATCGAGCTGTCCCTGGCCGTCAACACCTCCCTCATCGCCCTGGC
CAAGCTCTACATGTACTGCACAGAGCCCTTCCGGATCCCCTTTGCTGGCAAGGTCGAGGTGTGC
TGCTTTGACAAGACGGGGACGTTGACCAGTGACAGCCTGGTGGTGCGCGGTGTGGCCGGGCTGA
GAGACGGGAAGGAGGTGACCCCAGTGTCCAGCATCCCTGTAGAAACACACCGGGCCCTGGCCTC
GTGCCACTCGCTCATGCAGCTGGACGACGGCACCCTCGTGGGTGACCCTCTAGAGAAGGCCATG
CTGACGGCCGTGGACTGGACGCTGACCAAAGATGAGAAAGTATTCCCCCGAAGTATTAAAACTC
AGGGGCTGAAAATTCACCAGCGCTTTCATTTTGCCAGTGCCCTGAAGCGAATGTCCGTGCTTGC
CTCGTATGAGAAGCTGGGCTCCACCGACCTCTGCTACATCGCGGCCGTGAAGGGGGCCCCCGAA
ACTCTGCACTCCATGTTCTCCCAGTGCCCGCCCGACTACCACCACATCCACACCGAGATCTCCC
GGGAAGGAGCCCGCGTCCTGGCGCTGGGGTACAAGGAGCTGGGACACCTCACTCACCAGCAGGC
CCGGGAGGTCAAGCGGGAGGCCCTGGAGTGCAGCCTCAAGTTCGTCGGCTTCATTGTGGTCTCC
TGCCCGCTCAAGGCTGACTCCAAGGCCGTGATCCGGGAGATCCAGAATGCGTCCCACCGGGTGG
TCATGATCACGGGAGACAACCCGCTCACTGCATGCCACGTGGCCCAGGAGCTGCACTTCATTGA
AAAGGCCCACACGCTGATCCTGCAGCCTCCCTCCGAGAAAGGCCGGCAGTGCGAGTGGCGCTCC
ATTGACGGCAGCATCGTGCTGCCCCTGGCCCGGGGCTCCCCAAAGGCACTGGCCCTGGAGTACG
CACTGTGCCTCACAGGCGACGGCTTGGCCCACCTGCAGGCCACCGACCCCCAGCAGCTGCTCCG
CCTCATCCCCCATGTGCAGGTGTTCGCCCGTGTGGCTCCCAAGCAGAAGGAGTTTGTCATCACC
AGCCTGAAGGAGCTGGGCTACGTGACCCTCATGTGTGGGGATGGCACCAACGACGTGGGCGCCC
TGAAGCATGCTGACGTGGGTGTGGCGCTCTTGGCCAATGCCCCTGAGCGGGTTGTCGAGCGGCG
ACGGCGGCCCCGGGACAGCCCAACCCTGAGCAACAGTGGCATCAGAGCCACCTCCAGGACAGCC
AAGCAGCGGTCGGGGCTCCCTCCCTCCGAGGAGCAGCCAACCTCCCAGAGGGACCGCCTGAGCC
AGGTGCTGCGAGACCTCGAGGACGAGAGTACGCCCATTGTGAAACTGGGGGATGCCAGCATCGC
AGCACCCTTCACCTCCAAGCTCTCATCCATCCAGTGCATCTGCCACGTGATCAAGCAGGGCCGC
TGCACGCTGGTGACCACGCTACAGATGTTCAAGATCCTGGCGCTCAATGCCCTCATCCTGGCCT
ACAGCCAGAGCGTCCTCTACCTGGAGGGAGTCAAGTTCAGTGACTTCCAGGCCACCCTACAGGG
GCTGCTGCTGGCCGGCTGCTTCCTCTTCATCTCCCGTTCCAAGCCCCTCAAGACCCTCTCCCGA
GAACGGCCCCTGCCCAACATCTTCAACCTGTACACCATCCTCACCGTCATGCTCCAGTTCTTTG
TGCACTTCCTGAGCCTTGTCTACCTGTACCGTGAGGCCCAGGCCCGGAGCCCCGAGAAGCAGGA
GCAGTTCGTGGACTTGTACAAGGAGTTTGAGCCAAGCCTGGTCAACAGCACCGTCTACATCATG
GCCATGGCCATGCAGATGGCCACCTTCGCCATCAATTACAAAGGCCCGCCCTTCATGGAGAGCC
TGCCCGAGAACAAGCCCCTGGTGTGGAGTCTGGCAGTTTCACTCCTGGCCATCATTGGCCTGCT
CCTCGGCTCCTCGCCCGACTTCAACAGCCAGTTTGGCCTCGTGGACATCCCTGTGGAGTTCAAG
CTGGTCATTGCCCAGGTCCTGCTCCTGGACTTCTGCCTGGCGCTCCTGGCCGACCGCGTCCTGC
AGTTCTTCCTGGGGACCCCGAAGCTGAAAGTGCCTTCCTGAGATGGCAGTGCTGGTACCCACTG
CCCACCCTGGCTGCCGCTGGGCGGGAACCCCAACAGGGCCCCGGGAGGGAACCCTGCCCCCAAC
CCCCCACAGCAAGGCTGTACAGTCTCGCCCTTGGAAGACTGAGCTGGGACCCCCACAGCCATCC
GCTGGCTTGGCCAGCAGAACCAGCCCCAAGCCAGCACCTTTGGTAAATAAAGCAGCATCTGAGA
TTTTAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_065143	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAG01173	(Get FASTA)	NCBI Sequence Viewer
	AAH09302	(Get FASTA)	NCBI Sequence Viewer
	AAH69211	(Get FASTA)	NCBI Sequence Viewer
	BAB15334	(Get FASTA)	NCBI Sequence Viewer
	BAB47454	(Get FASTA)	NCBI Sequence Viewer
	BAB84985	(Get FASTA)	NCBI Sequence Viewer
	BAC11294	(Get FASTA)	NCBI Sequence Viewer
	BAC85690	(Get FASTA)	NCBI Sequence Viewer
	BAC86325	(Get FASTA)	NCBI Sequence Viewer
	BAD18759	(Get FASTA)	NCBI Sequence Viewer
	BAG51704	(Get FASTA)	NCBI Sequence Viewer
	BAG53019	(Get FASTA)	NCBI Sequence Viewer
	CAD38877	(Get FASTA)	NCBI Sequence Viewer
	EAW84847	(Get FASTA)	NCBI Sequence Viewer
	EAW84848	(Get FASTA)	NCBI Sequence Viewer
	EAW84849	(Get FASTA)	NCBI Sequence Viewer
	EAW84850	(Get FASTA)	NCBI Sequence Viewer
	EAW84851	(Get FASTA)	NCBI Sequence Viewer
	EAW84852	(Get FASTA)	NCBI Sequence Viewer
	EAW84853	(Get FASTA)	NCBI Sequence Viewer
	EAW84854	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000291503.5
	ENSP00000349877
	ENSP00000349877.6
	ENSP00000411891.1
GenBank Protein	Q9HD20	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_065143 ⟸ NM_020410

- UniProtKB:

Q6ZMG7 (UniProtKB/Swiss-Prot), Q6NT90 (UniProtKB/Swiss-Prot), B3KTA7 (UniProtKB/Swiss-Prot), B3KPJ2 (UniProtKB/Swiss-Prot), Q9H6C6 (UniProtKB/Swiss-Prot), Q9HD20 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAAAAVGNAVPCGARPCGVRPDGQPKPGPQPRALLAAGPALIANGDELVAAVWPYRRLALLRR
LTVLPFAGLLYPAWLGAAAAGCWGWGSSWVQIPEAALLVLATICLAHALTVLSGHWSVHAHCAL
TCTPEYDPSKATFVKVVPTPNNGSTELVALHRNEGEDGLEVLSFEFQKIKYSYDALEKKQFLPV
AFPVGNAFSYYQSNRGFQEDSEIRAAEKKFGSNKAEMVVPDFSELFKERATAPFFVFQVFCVGL
WCLDEYWYYSVFTLSMLVAFEASLVQQQMRNMSEIRKMGNKPHMIQVYRSRKWRPIASDEIVPG
DIVSIGRSPQENLVPCDVLLLRGRCIVDEAMLTGESVPQMKEPIEDLSPDRVLDLQADSRLHVI
FGGTKVVQHIPPQKATTGLKPVDSGCVAYVLRTGFNTSQGKLLRTILFGVKRVTANNLETFIFI
LFLLVFAIAAAAYVWIEGTKDPSRNRYKLFLECTLILTSVVPPELPIELSLAVNTSLIALAKLY
MYCTEPFRIPFAGKVEVCCFDKTGTLTSDSLVVRGVAGLRDGKEVTPVSSIPVETHRALASCHS
LMQLDDGTLVGDPLEKAMLTAVDWTLTKDEKVFPRSIKTQGLKIHQRFHFASALKRMSVLASYE
KLGSTDLCYIAAVKGAPETLHSMFSQCPPDYHHIHTEISREGARVLALGYKELGHLTHQQAREV
KREALECSLKFVGFIVVSCPLKADSKAVIREIQNASHRVVMITGDNPLTACHVAQELHFIEKAH
TLILQPPSEKGRQCEWRSIDGSIVLPLARGSPKALALEYALCLTGDGLAHLQATDPQQLLRLIP
HVQVFARVAPKQKEFVITSLKELGYVTLMCGDGTNDVGALKHADVGVALLANAPERVVERRRRP
RDSPTLSNSGIRATSRTAKQRSGLPPSEEQPTSQRDRLSQVLRDLEDESTPIVKLGDASIAAPF
TSKLSSIQCICHVIKQGRCTLVTTLQMFKILALNALILAYSQSVLYLEGVKFSDFQATLQGLLL
AGCFLFISRSKPLKTLSRERPLPNIFNLYTILTVMLQFFVHFLSLVYLYREAQARSPEKQEQFV
DLYKEFEPSLVNSTVYIMAMAMQMATFAINYKGPPFMESLPENKPLVWSLAVSLLAIIGLLLGS
SPDFNSQFGLVDIPVEFKLVIAQVLLLDFCLALLADRVLQFFLGTPKLKVPS

hide sequence

RefSeq Acc Id:

ENSP00000291503 ⟸ ENST00000291503

RefSeq Acc Id:

ENSP00000411891 ⟸ ENST00000455627

RefSeq Acc Id:

ENSP00000349877 ⟸ ENST00000357324

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9HD20-F1-model_v2	AlphaFold	Q9HD20	1-1204	view protein structure

Promoters

RGD ID:

6795153

Promoter ID:

HG_KWN:29373

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329010

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,617,619 - 19,618,119 (-)	MPROMDB

RGD ID:

6795157

Promoter ID:

HG_KWN:29374

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, Lymphoblastoid

Transcripts:

UC002NNE.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,621,561 - 19,623,782 (-)	MPROMDB

RGD ID:

6795154

Promoter ID:

HG_KWN:29375

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329009, OTTHUMT00000329019, OTTHUMT00000329020

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,624,331 - 19,624,831 (-)	MPROMDB

RGD ID:

6795156

Promoter ID:

HG_KWN:29376

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329016, OTTHUMT00000329017, OTTHUMT00000329018, UC002NNF.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,628,071 - 19,628,571 (-)	MPROMDB

RGD ID:

6795152

Promoter ID:

HG_KWN:29377

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

OTTHUMT00000329008

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,628,534 - 19,629,034 (-)	MPROMDB

RGD ID:

6795150

Promoter ID:

HG_KWN:29379

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, K562, Lymphoblastoid

Transcripts:

ENST00000291503

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,633,836 - 19,634,437 (-)	MPROMDB

RGD ID:

6795155

Promoter ID:

HG_KWN:29380

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:

NM_020410, OTTHUMT00000329012, OTTHUMT00000329013

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	19,635,161 - 19,635,661 (-)	MPROMDB

RGD ID:

7239269

Promoter ID:

EPDNEW_H25380

Type:

multiple initiation site

Name:

ATP13A1_1

Description:

ATPase 13A1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25381

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	19,663,676 - 19,663,736	EPDNEW

RGD ID:

7239271

Promoter ID:

EPDNEW_H25381

Type:

initiation region

Name:

ATP13A1_2

Description:

ATPase 13A1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25380

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	19,664,039 - 19,664,099	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:24215	AgrOrtholog
COSMIC	ATP13A1	COSMIC
Ensembl Genes	ENSG00000105726	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000291503.9	UniProtKB/Swiss-Prot
	ENST00000357324	ENTREZGENE
	ENST00000357324.11	UniProtKB/Swiss-Prot
	ENST00000455627.1	UniProtKB/TrEMBL
Gene3D-CATH	3.40.1110.10	UniProtKB/Swiss-Prot
	3.40.50.1000	UniProtKB/Swiss-Prot
	Calcium-transporting ATPase, cytoplasmic transduction domain A	UniProtKB/Swiss-Prot
GTEx	ENSG00000105726	GTEx
HGNC ID	HGNC:24215	ENTREZGENE
Human Proteome Map	ATP13A1	Human Proteome Map
InterPro	ATPase_P-typ_cyto_dom_N	UniProtKB/Swiss-Prot
	ATPase_P-typ_P_site	UniProtKB/Swiss-Prot
	ATPase_P-typ_TM_dom_sf	UniProtKB/Swiss-Prot
	ATPase_P-typ_transduc_dom_A_sf	UniProtKB/Swiss-Prot
	HAD-like_sf	UniProtKB/Swiss-Prot
	HAD_sf	UniProtKB/Swiss-Prot
	P-type_TPase_V	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	P5A-type_ATPase	UniProtKB/Swiss-Prot
	P_typ_ATPase	UniProtKB/Swiss-Prot
	P_typ_ATPase_HD_dom	UniProtKB/Swiss-Prot
KEGG Report	hsa:57130	UniProtKB/Swiss-Prot
NCBI Gene	57130	ENTREZGENE
OMIM	619118	OMIM
PANTHER	CATION-TRANSPORTING ATPASE-RELATED	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENDOPLASMIC RETICULUM TRANSMEMBRANE HELIX TRANSLOCASE	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	E1-E2_ATPase	UniProtKB/Swiss-Prot
PharmGKB	PA134988892	PharmGKB
PRINTS	CATATPASE	UniProtKB/Swiss-Prot
PROSITE	ATPASE_E1_E2	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF56784	UniProtKB/Swiss-Prot
	SSF81653	UniProtKB/Swiss-Prot
	SSF81660	UniProtKB/Swiss-Prot
	SSF81665	UniProtKB/Swiss-Prot
UniProt	AT131_HUMAN	UniProtKB/Swiss-Prot
	B3KPJ2	ENTREZGENE
	B3KTA7	ENTREZGENE
	H7C3H2_HUMAN	UniProtKB/TrEMBL
	Q6NT90	ENTREZGENE
	Q6ZMG7	ENTREZGENE
	Q9H6C6	ENTREZGENE
	Q9HD20	ENTREZGENE
UniProt Secondary	B3KPJ2	UniProtKB/Swiss-Prot
	B3KTA7	UniProtKB/Swiss-Prot
	Q6NT90	UniProtKB/Swiss-Prot
	Q6ZMG7	UniProtKB/Swiss-Prot
	Q9H6C6	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	ATP13A1	ATPase 13A1		ATPase type 13A1	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 Human Phenotype Annotations - ClinVar