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Gene: PRICKLE3 (prickle planar cell polarity protein 3) Homo sapiens

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Symbol:

PRICKLE3

Name:

prickle planar cell polarity protein 3

RGD ID:

1350042

HGNC Page

HGNC:6645

Description:

Predicted to enable zinc ion binding activity. Predicted to be involved in cell projection organization. Located in mitochondrion.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

LIM domain only protein 6; LMO-6; LMO6; LOAM; LOAS; Pk3; prickle homolog 3; prickle-like protein 3; triple LIM domain protein 6

RGD Orthologs

Alliance Orthologs

More Info

more info ...

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	X	49,174,802 - 49,186,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	49,174,802 - 49,186,528 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	49,031,151 - 49,042,826 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,918,850 - 48,929,720 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	48,788,276 - 48,799,147	NCBI
Celera	X	52,621,593 - 52,632,463 (+)	NCBI		Celera
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	46,689,176 - 46,699,847 (-)	NCBI		HuRef
CHM1_1	X	49,064,231 - 49,075,097 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	48,586,552 - 48,598,227 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
PRICKLE3	Human	congenital disorder of glycosylation type IIm		IAGP	(Homo sapiens) more ...	8554872	ClinVar more ...	ClinVar	PMID:28492532
PRICKLE3	Human	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	ClinVar	PMID:28492532
PRICKLE3	Human	immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Insulin-dependent diabetes mellitus secretory diarrhea syndrome	ClinVar	PMID:11137992 more ...
PRICKLE3	Human	Leber hereditary optic neuropathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Leber optic atrophy	ClinVar	PMID:32516135
PRICKLE3	Human	neurodegeneration with brain iron accumulation 5		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Beta-propeller protein-associated neurodegeneration	ClinVar	PMID:28492532
PRICKLE3	Human	sensorineural hearing loss		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	ClinVar	PMID:27876815
PRICKLE3	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868
PRICKLE3	Human	Thrombocytopenia 1		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Thrombocytopenia and X-linked	ClinVar	PMID:28492532
PRICKLE3	Human	Wiskott-Aldrich syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: WISKOTT-ALDRICH SYNDROME 1	ClinVar	PMID:28492532
PRICKLE3	Human	X-linked epilepsy with variable learning disabilities and behavior disorders		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar more ...	ClinVar	PMID:28492532
PRICKLE3	Human	X-linked severe congenital neutropenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: X-linked severe congenital neutropenia	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	Leber hereditary optic neuropathy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	Leber plus disease		ISS	Prickle3 (Mus musculus)	13592920		MouseDO

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	Leber Optic Atrophy, Susceptibility To		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	17alpha-ethynylestradiol	affects expression	ISO	Prickle3 (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of PRICKLE3 mRNA	CTD	PMID:17555576
PRICKLE3	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Prickle3 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PRICKLE3 mRNA	CTD	PMID:17942748
PRICKLE3	Human	17alpha-ethynylestradiol	increases expression	ISO	Prickle3 (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of PRICKLE3 mRNA	CTD	PMID:17942748
PRICKLE3	Human	17beta-estradiol	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Estradiol results in decreased expression of PRICKLE3 mRNA	CTD	PMID:32145629
PRICKLE3	Human	17beta-estradiol	increases expression	EXP		6480464	Estradiol results in increased expression of PRICKLE3 mRNA	CTD	PMID:31614463
PRICKLE3	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Prickle3 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PRICKLE3 mRNA	CTD	PMID:17942748
PRICKLE3	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of PRICKLE3 mRNA	CTD	PMID:33387578
PRICKLE3	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Prickle3 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of PRICKLE3 mRNA	CTD	PMID:21570461
PRICKLE3	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of PRICKLE3 mRNA	CTD	PMID:21215274
PRICKLE3	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Prickle3 (Rattus norvegicus)	6480464	AHR protein alternative form affects the reaction [Tetrachlorodibenzodioxin results in decreased expression of PRICKLE3 mRNA]	CTD	PMID:21215274
PRICKLE3	Human	aflatoxin B1	increases methylation	EXP		6480464	Aflatoxin B1 results in increased methylation of PRICKLE3 polyA tail	CTD	PMID:30157460
PRICKLE3	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of PRICKLE3 3' UTR and Benzo(a)pyrene results in increased methylation of PRICKLE3 promoter	CTD	PMID:27901495
PRICKLE3	Human	bisphenol A	increases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of PRICKLE3 mRNA	CTD	PMID:25181051
PRICKLE3	Human	bisphenol A	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of PRICKLE3 mRNA	CTD	PMID:32145629 and PMID:35192832
PRICKLE3	Human	bisphenol A	increases methylation	ISO	Prickle3 (Rattus norvegicus)	6480464	bisphenol A results in increased methylation of PRICKLE3 gene	CTD	PMID:28505145
PRICKLE3	Human	bisphenol F	decreases expression	ISO	Prickle3 (Mus musculus)	6480464	bisphenol F results in decreased expression of PRICKLE3 mRNA	CTD	PMID:38685157
PRICKLE3	Human	C60 fullerene	increases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	fullerene C60 results in increased expression of PRICKLE3 mRNA	CTD	PMID:19167457
PRICKLE3	Human	chrysene	increases expression	ISO	Prickle3 (Mus musculus)	6480464	chrysene results in increased expression of PRICKLE3 mRNA	CTD	PMID:26377693
PRICKLE3	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of PRICKLE3 mRNA	CTD	PMID:27392435
PRICKLE3	Human	Cuprizon	increases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Cuprizone results in increased expression of PRICKLE3 mRNA	CTD	PMID:26577399
PRICKLE3	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of PRICKLE3 mRNA	CTD	PMID:25562108
PRICKLE3	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of PRICKLE3 mRNA	CTD	PMID:37042841
PRICKLE3	Human	dicrotophos	increases expression	EXP		6480464	dicrotophos results in increased expression of PRICKLE3 mRNA	CTD	PMID:28302478
PRICKLE3	Human	fipronil	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	fipronil results in decreased expression of PRICKLE3 mRNA	CTD	PMID:23962444
PRICKLE3	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of PRICKLE3 protein	CTD	PMID:37730182
PRICKLE3	Human	kojic acid	decreases expression	EXP		6480464	kojic acid results in decreased expression of PRICKLE3 mRNA	CTD	PMID:16595896
PRICKLE3	Human	lead diacetate	increases expression	ISO	Prickle3 (Mus musculus)	6480464	lead acetate results in increased expression of PRICKLE3 mRNA	CTD	PMID:21829687
PRICKLE3	Human	methamphetamine	increases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Methamphetamine results in increased expression of PRICKLE3 mRNA	CTD	PMID:19564919
PRICKLE3	Human	paracetamol	affects expression	ISO	Prickle3 (Mus musculus)	6480464	Acetaminophen affects the expression of PRICKLE3 mRNA	CTD	PMID:17562736
PRICKLE3	Human	paracetamol	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Acetaminophen results in decreased expression of PRICKLE3 mRNA	CTD	PMID:33387578
PRICKLE3	Human	potassium dichromate	increases expression	ISO	Prickle3 (Mus musculus)	6480464	Potassium Dichromate results in increased expression of PRICKLE3 mRNA	CTD	PMID:23608068
PRICKLE3	Human	silicon dioxide	increases expression	EXP		6480464	Silicon Dioxide results in increased expression of PRICKLE3 mRNA	CTD	PMID:34973136
PRICKLE3	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PRICKLE3 mRNA	CTD	PMID:22714537
PRICKLE3	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of PRICKLE3 mRNA	CTD	PMID:38568856
PRICKLE3	Human	sodium fluoride	decreases expression	ISO	Prickle3 (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of PRICKLE3 mRNA	CTD	PMID:27862939
PRICKLE3	Human	sunitinib	decreases expression	EXP		6480464	Sunitinib results in decreased expression of PRICKLE3 mRNA	CTD	PMID:31533062
PRICKLE3	Human	tamoxifen	affects expression	ISO	Prickle3 (Mus musculus)	6480464	Tamoxifen affects the expression of PRICKLE3 mRNA	CTD	PMID:17555576
PRICKLE3	Human	thioacetamide	decreases expression	ISO	Prickle3 (Rattus norvegicus)	6480464	Thioacetamide results in decreased expression of PRICKLE3 mRNA	CTD	PMID:34492290
PRICKLE3	Human	titanium dioxide	increases expression	EXP		6480464	titanium dioxide results in increased expression of PRICKLE3 mRNA	CTD	PMID:34973136
PRICKLE3	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PRICKLE3 gene	CTD	PMID:29154799

Biological Process

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	cell projection organization	involved_in	IEA	UniProtKB-KW:KW-0970	150520179		UniProt	GO_REF:0000043

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
PRICKLE3	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
PRICKLE3	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PRICKLE3	Human	mitochondrion	located_in	IEA	UniProtKB-KW:KW-0496	150520179		UniProt	GO_REF:0000043
PRICKLE3	Human	mitochondrion	located_in	IEA	UniProtKB:Q80VL3 and ensembl:ENSMUSP00000033485	150520179		Ensembl	GO_REF:0000107
PRICKLE3	Human	mitochondrion	located_in	IEA	UniProtKB-SubCell:SL-0173	150520179		UniProt	GO_REF:0000044
PRICKLE3	Human	mitochondrion	located_in	IDA		150520179	PMID:32516135	UniProt	PMID:32516135
PRICKLE3	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
PRICKLE3	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	metal ion binding	enables	IEA	UniProtKB-KW:KW-0479	150520179		UniProt	GO_REF:0000043
PRICKLE3	Human	protein binding	enables	IPI	UniProtKB:P00519 and UniProtKB:P06241	150520179	PMID:17474147	IntAct	PMID:17474147
PRICKLE3	Human	protein binding	enables	IPI	UniProtKB:O00204	150520179	PMID:25416956	IntAct	PMID:25416956
PRICKLE3	Human	protein binding	enables	IPI	UniProtKB:P03928	150520179	PMID:32516135	UniProt	PMID:32516135
PRICKLE3	Human	zinc ion binding	enables	IEA	InterPro:IPR010442	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	Leber optic atrophy		IAGP		8699517		HPO	MIM:308905
PRICKLE3	Human	Optic atrophy		IAGP		8699517		HPO	MIM:308905
PRICKLE3	Human	X-linked inheritance		IAGP		8699517		HPO	MIM:308905

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PRICKLE3	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
PRICKLE3	Human	Leber optic atrophy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Leber optic degeneration	ClinVar	PMID:32516135
PRICKLE3	Human	Progressive sensorineural hearing impairment		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Progressive sensorineural hearing impairment	ClinVar	PMID:27876815

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:9344658	PMID:12477932	PMID:15302935	PMID:15342556	PMID:15489334	PMID:17081983	PMID:17474147	PMID:20211142	PMID:20360068	PMID:23443559	PMID:24366813
PMID:25416956	PMID:26496610	PMID:26673895	PMID:26972000	PMID:28514442	PMID:28986522	PMID:29117863	PMID:29180619	PMID:32516135	PMID:33961781	PMID:35563538	PMID:37167062

PRICKLE3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	49,174,802 - 49,186,373 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	49,174,802 - 49,186,528 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	49,031,151 - 49,042,826 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	48,918,850 - 48,929,720 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	48,788,276 - 48,799,147	NCBI
Celera	X	52,621,593 - 52,632,463 (+)	NCBI		Celera
Cytogenetic Map	X	p11.23	NCBI
HuRef	X	46,689,176 - 46,699,847 (-)	NCBI		HuRef
CHM1_1	X	49,064,231 - 49,075,097 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	48,586,552 - 48,598,227 (-)	NCBI		T2T-CHM13v2.0

Prickle3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	7,523,616 - 7,535,086 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	7,523,499 - 7,534,425 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	7,657,379 - 7,668,197 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	7,657,260 - 7,668,186 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	7,235,659 - 7,245,312 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	6,815,492 - 6,825,145 (+)	NCBI		MGSCv36	mm8
MGSCv36	X	3,832,127 - 3,914,808 (+)	NCBI		MGSCv36	mm8
Celera	X	3,802,719 - 3,812,718 (-)	NCBI		Celera
Cytogenetic Map	X	A1.1	NCBI
cM Map	X	3.45	NCBI

Prickle3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	17,509,551 - 17,520,157 (-)	NCBI		GRCr8
mRatBN7.2	X	14,837,647 - 14,849,305 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	14,837,650 - 14,848,218 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	19,651,793 - 19,662,569 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	20,420,565 - 20,431,339 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	16,685,708 - 16,696,482 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	15,682,652 - 15,693,473 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	15,682,653 - 15,693,473 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	16,473,878 - 16,484,448 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	26,878,508 - 26,889,077 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	26,931,977 - 26,942,546 (-)	NCBI
Celera	X	14,920,980 - 14,931,582 (-)	NCBI		Celera
Cytogenetic Map	X	q12	NCBI

Prickle3
(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_004955543	662,438 - 673,662 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955543	662,438 - 673,386 (-)	NCBI	ChiLan1.0	ChiLan1.0

PRICKLE3
(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	X	50,666,421 - 50,678,526 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	50,670,220 - 50,681,916 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	41,474,569 - 41,486,986 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	49,327,145 - 49,338,613 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	49,327,145 - 49,338,613 (-)	Ensembl	panpan1.1		panPan2

PRICKLE3
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	X	42,276,316 - 42,285,428 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	42,275,900 - 42,285,321 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	16,655,446 - 16,664,565 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	42,418,291 - 42,427,520 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	42,418,294 - 42,427,517 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	42,402,367 - 42,411,486 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	42,390,018 - 42,399,136 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	42,484,780 - 42,493,899 (-)	NCBI		UU_Cfam_GSD_1.0

Prickle3
(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	X	34,810,353 - 34,820,245 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936721	1,050,801 - 1,060,574 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936721	1,050,755 - 1,060,603 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PRICKLE3
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	43,218,277 - 43,230,367 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	43,218,271 - 43,230,368 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	48,066,244 - 48,078,307 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PRICKLE3
(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	X	46,271,001 - 46,286,440 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	46,266,985 - 46,283,689 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666076	11,835,728 - 11,847,007 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Prickle3
(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_004624893	913,755 - 927,122 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624893	916,340 - 927,128 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PRICKLE3
60 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:47859417-52789530)x3	copy number gain	See cases [RCV000052390]	ChrX:47859417..52789530 [GRCh38] ChrX:47835880..52818575 [GRCh37] ChrX:47603760..52835300 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48344666-52664916)x2	copy number gain	See cases [RCV000051992]	ChrX:48344666..52664916 [GRCh38] ChrX:48204101..52616581 [GRCh37] ChrX:48089045..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp11.23(chrX:48612125-49292405)x2	copy number gain	See cases [RCV000054185]	ChrX:48612125..49292405 [GRCh38] ChrX:48510591..49148873 [GRCh37] ChrX:48355457..49035817 [NCBI36] ChrX:Xp11.23	uncertain significance
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48260861-52664916)x2	copy number gain	See cases [RCV000136829]	ChrX:48260861..52664916 [GRCh38] ChrX:48120296..52616581 [GRCh37] ChrX:48005240..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.23(chrX:44765664-49343053)x3	copy number gain	See cases [RCV000137271]	ChrX:44765664..49343053 [GRCh38] ChrX:44624910..49218180 [GRCh37] ChrX:44509854..49105124 [NCBI36] ChrX:Xp11.3-11.23	likely pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x1	copy number loss	See cases [RCV000138107]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52693966 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48310313-52614698)x1	copy number loss	See cases [RCV000203435]	ChrX:48310313..52614698 [GRCh37] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x3	copy number gain	See cases [RCV000449147]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_006150.5(PRICKLE3):c.609C>A (p.Ser203Arg)	single nucleotide variant	Progressive sensorineural hearing impairment [RCV000417122]	ChrX:49178431 [GRCh38] ChrX:49034780 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_006150.5(PRICKLE3):c.1822C>G (p.Arg608Gly)	single nucleotide variant	not specified [RCV004281589]	ChrX:49175699 [GRCh38] ChrX:49032048 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48224454-52813336)x3	copy number gain	See cases [RCV000512224]	ChrX:48224454..52813336 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48290189-52154997)x4	copy number gain	See cases [RCV000512561]	ChrX:48290189..52154997 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_006150.5(PRICKLE3):c.284G>A (p.Trp95Ter)	single nucleotide variant	not provided [RCV000999425]	ChrX:49183762 [GRCh38] ChrX:49040215 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:47179068-54424785)x2	copy number gain	not provided [RCV001537899]	ChrX:47179068..54424785 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
Single allele	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)	single nucleotide variant	Leber optic atrophy [RCV001281698]	ChrX:49183889 [GRCh38] ChrX:49040342 [GRCh37] ChrX:Xp11.23	risk factor
NC_000023.10:g.(?_48382160)_(49856876_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV001305099]\|SLC35A2-congenital disorder of glycosylation [RCV001308190]	ChrX:48382160..49856876 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_46466387)_(50659607_?)del	deletion	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV003116676]	ChrX:46466387..50659607 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_46466387)_(51241672_?)del	deletion	not provided [RCV003154905]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_006150.5(PRICKLE3):c.1783C>T (p.Leu595Phe)	single nucleotide variant	not specified [RCV004109883]	ChrX:49175738 [GRCh38] ChrX:49032087 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.611G>A (p.Arg204His)	single nucleotide variant	not specified [RCV004165491]	ChrX:49178429 [GRCh38] ChrX:49034778 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.68G>C (p.Arg23Pro)	single nucleotide variant	not specified [RCV004153793]	ChrX:49184685 [GRCh38] ChrX:49041138 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.791C>T (p.Thr264Met)	single nucleotide variant	not specified [RCV004205052]	ChrX:49178157 [GRCh38] ChrX:49034506 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.533C>G (p.Pro178Arg)	single nucleotide variant	not provided [RCV003435917]\|not specified [RCV004169376]	ChrX:49179282 [GRCh38] ChrX:49035631 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
NM_006150.5(PRICKLE3):c.1009C>T (p.Arg337Cys)	single nucleotide variant	not specified [RCV004101364]	ChrX:49177149 [GRCh38] ChrX:49033498 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.806G>A (p.Arg269His)	single nucleotide variant	not specified [RCV004114320]	ChrX:49178142 [GRCh38] ChrX:49034491 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.743G>A (p.Arg248His)	single nucleotide variant	not specified [RCV004187890]	ChrX:49178297 [GRCh38] ChrX:49034646 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.511C>T (p.Arg171Cys)	single nucleotide variant	not specified [RCV004137436]	ChrX:49179304 [GRCh38] ChrX:49035653 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3	copy number gain	See cases [RCV000134956]	ChrX:43361870..50931794 [GRCh38] ChrX:43221119..50674794 [GRCh37] ChrX:43106063..50691534 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48022053-52664916)x3	copy number gain	See cases [RCV000135801]	ChrX:48022053..52664916 [GRCh38] ChrX:47881447..52616581 [GRCh37] ChrX:47766391..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.23-11.21(chrX:48344666-58055036)x3	copy number gain	See cases [RCV000135958]	ChrX:48344666..58055036 [GRCh38] ChrX:48204101..58081470 [GRCh37] ChrX:48089045..58098195 [NCBI36] ChrX:Xp11.23-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
GRCh38/hg38 Xp11.23-11.22(chrX:48429509-52664916)x3	copy number gain	See cases [RCV000138106]	ChrX:48429509..52664916 [GRCh38] ChrX:48287896..52616581 [GRCh37] ChrX:48172840..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp11.23-11.22(chrX:48386298-52664916)x2	copy number gain	See cases [RCV000139185]	ChrX:48386298..52664916 [GRCh38] ChrX:48245740..52616581 [GRCh37] ChrX:48130684..52710691 [NCBI36] ChrX:Xp11.23-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp11.23-11.22(chrX:48953927-53273903)x2	copy number gain	See cases [RCV000141869]	ChrX:48953927..53273903 [GRCh38] ChrX:48811187..53303085 [GRCh37] ChrX:48696131..53319810 [NCBI36] ChrX:Xp11.23-11.22	pathogenic
GRCh38/hg38 Xp11.3-11.22(chrX:46971389-54130971)x3	copy number gain	See cases [RCV000141567]	ChrX:46971389..54130971 [GRCh38] ChrX:46818746..53957191 [GRCh37] ChrX:46703690..54174129 [NCBI36] ChrX:Xp11.3-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.3-q21.1(chrX:44734936-79676121)x3	copy number gain	See cases [RCV000240019]	ChrX:44734936..79676121 [GRCh37] ChrX:Xp11.3-q21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_006150.5(PRICKLE3):c.722G>A (p.Arg241His)	single nucleotide variant	not specified [RCV004285948]	ChrX:49178318 [GRCh38] ChrX:49034667 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48317353-51497588)x2	copy number gain	See cases [RCV000447617]	ChrX:48317353..51497588 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48156672-52672728)x1	copy number loss	not provided [RCV000684331]	ChrX:48156672..52672728 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp11.23-q13.2(chrX:48115450-73424191)x1	copy number loss	not provided [RCV000753535]	ChrX:48115450..73424191 [GRCh37] ChrX:Xp11.23-q13.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
46,Y,inv(X)(p21.1q13.3)	inversion	Elevated circulating creatine kinase concentration [RCV000856573]	ChrX:32196272..75245806 [GRCh37] ChrX:Xp21.1-q13.3	likely pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224266-52744574)x2	copy number gain	not provided [RCV000847795]	ChrX:48224266..52744574 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_47001716)_(50659607_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV003122411]\|Neurodegeneration with brain iron accumulation 5 [RCV003105408]\|SLC35A2-congenital disorder of glycosylation [RCV003122412]	ChrX:47001716..50659607 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
GRCh37/hg19 Xp11.23-11.22(chrX:48307437-50657313)x3	copy number gain	not provided [RCV001007303]	ChrX:48307437..50657313 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48102202-52685635)x2	copy number gain	not provided [RCV001258953]	ChrX:48102202..52685635 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48178413-52686510)x2	copy number gain	not provided [RCV001258954]	ChrX:48178413..52686510 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NC_000023.10:g.(?_48932462)_(49840657_?)dup	duplication	Insulin-dependent diabetes mellitus secretory diarrhea syndrome [RCV001922920]	ChrX:48932462..49840657 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NC_000023.10:g.(?_48368209)_(51241672_?)dup	duplication	Neurodegeneration with brain iron accumulation 5 [RCV004579591]\|SLC35A2-congenital disorder of glycosylation [RCV004579592]\|X-linked severe congenital neutropenia [RCV003111119]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NC_000023.10:g.(?_48368209)_(51241672_?)del	deletion	not provided [RCV003116321]	ChrX:48368209..51241672 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NC_000023.10:g.(?_48932462)_(49089771_?)dup	duplication	not provided [RCV003116323]	ChrX:48932462..49089771 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_006150.5(PRICKLE3):c.1130C>T (p.Pro377Leu)	single nucleotide variant	not provided [RCV003436001]\|not specified [RCV004287525]	ChrX:49177028 [GRCh38] ChrX:49033377 [GRCh37] ChrX:Xp11.23	likely benign\|uncertain significance
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.4-11.22(chrX:39525562-52832596)x3	copy number gain	not provided [RCV002474503]	ChrX:39525562..52832596 [GRCh37] ChrX:Xp11.4-11.22	pathogenic
NM_006150.5(PRICKLE3):c.1264C>T (p.Pro422Ser)	single nucleotide variant	not specified [RCV004178095]	ChrX:49176257 [GRCh38] ChrX:49032606 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.874A>G (p.Met292Val)	single nucleotide variant	not specified [RCV004232733]	ChrX:49178074 [GRCh38] ChrX:49034423 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1063C>T (p.Pro355Ser)	single nucleotide variant	not specified [RCV004155045]	ChrX:49177095 [GRCh38] ChrX:49033444 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1210G>A (p.Ala404Thr)	single nucleotide variant	not specified [RCV004211418]	ChrX:49176948 [GRCh38] ChrX:49033297 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.578T>C (p.Ile193Thr)	single nucleotide variant	not specified [RCV004096762]	ChrX:49178462 [GRCh38] ChrX:49034811 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1403G>T (p.Arg468Leu)	single nucleotide variant	not specified [RCV004256649]	ChrX:49176118 [GRCh38] ChrX:49032467 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1813C>G (p.Arg605Gly)	single nucleotide variant	not specified [RCV004265812]	ChrX:49175708 [GRCh38] ChrX:49032057 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1103T>C (p.Leu368Pro)	single nucleotide variant	not specified [RCV004359163]	ChrX:49177055 [GRCh38] ChrX:49033404 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp21.1-11.22(chrX:36355238-54106257)x1	copy number loss	not provided [RCV003483920]	ChrX:36355238..54106257 [GRCh37] ChrX:Xp21.1-11.22	pathogenic
GRCh37/hg19 Xp11.23-11.22(chrX:48224455-52832596)x3	copy number gain	not provided [RCV003485288]	ChrX:48224455..52832596 [GRCh37] ChrX:Xp11.23-11.22	pathogenic
NM_006150.5(PRICKLE3):c.796G>T (p.Ala266Ser)	single nucleotide variant	not provided [RCV003438289]	ChrX:49178152 [GRCh38] ChrX:49034501 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.909C>T (p.Tyr303=)	single nucleotide variant	not provided [RCV003438288]	ChrX:49178039 [GRCh38] ChrX:49034388 [GRCh37] ChrX:Xp11.23	likely benign
NM_006150.5(PRICKLE3):c.1394C>T (p.Ala465Val)	single nucleotide variant	not provided [RCV003438287]	ChrX:49176127 [GRCh38] ChrX:49032476 [GRCh37] ChrX:Xp11.23	likely benign
NM_006150.5(PRICKLE3):c.717C>T (p.Cys239=)	single nucleotide variant	not provided [RCV003438290]	ChrX:49178323 [GRCh38] ChrX:49034672 [GRCh37] ChrX:Xp11.23	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_006150.5(PRICKLE3):c.120C>A (p.His40Gln)	single nucleotide variant	not specified [RCV004515030]	ChrX:49184633 [GRCh38] ChrX:49041086 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1211C>T (p.Ala404Val)	single nucleotide variant	not specified [RCV004515031]	ChrX:49176947 [GRCh38] ChrX:49033296 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1235C>T (p.Thr412Ile)	single nucleotide variant	not specified [RCV004515032]	ChrX:49176923 [GRCh38] ChrX:49033272 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1358C>T (p.Ser453Phe)	single nucleotide variant	not specified [RCV004515033]	ChrX:49176163 [GRCh38] ChrX:49032512 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1589G>A (p.Arg530His)	single nucleotide variant	not specified [RCV004515034]	ChrX:49175932 [GRCh38] ChrX:49032281 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1814G>C (p.Arg605Pro)	single nucleotide variant	not specified [RCV004515035]	ChrX:49175707 [GRCh38] ChrX:49032056 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.209G>A (p.Cys70Tyr)	single nucleotide variant	not specified [RCV004515036]	ChrX:49183837 [GRCh38] ChrX:49040290 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.583G>T (p.Gly195Cys)	single nucleotide variant	not specified [RCV004515039]	ChrX:49178457 [GRCh38] ChrX:49034806 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.233G>A (p.Arg78His)	single nucleotide variant	not specified [RCV004515037]	ChrX:49183813 [GRCh38] ChrX:49040266 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1066C>T (p.Arg356Cys)	single nucleotide variant	not specified [RCV004515025]	ChrX:49177092 [GRCh38] ChrX:49033441 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1138C>T (p.Arg380Cys)	single nucleotide variant	not specified [RCV004515026]	ChrX:49177020 [GRCh38] ChrX:49033369 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1153G>A (p.Gly385Ser)	single nucleotide variant	not specified [RCV004515027]	ChrX:49177005 [GRCh38] ChrX:49033354 [GRCh37] ChrX:Xp11.23	uncertain significance
NC_000023.10:g.(?_46466387)_(51241672_?)dup	duplication	Epilepsy, X-linked 1, with variable learning disabilities and behavior disorders [RCV004580271]	ChrX:46466387..51241672 [GRCh37] ChrX:Xp11.23-11.22	uncertain significance
NM_006150.5(PRICKLE3):c.645C>G (p.Cys215Trp)	single nucleotide variant	not specified [RCV004846119]	ChrX:49178395 [GRCh38] ChrX:49034744 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1127G>C (p.Gly376Ala)	single nucleotide variant	not specified [RCV004846120]	ChrX:49177031 [GRCh38] ChrX:49033380 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.553A>G (p.Ile185Val)	single nucleotide variant	not specified [RCV004846125]	ChrX:49179262 [GRCh38] ChrX:49035611 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1399G>A (p.Gly467Ser)	single nucleotide variant	not specified [RCV004846123]	ChrX:49176122 [GRCh38] ChrX:49032471 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1091G>A (p.Arg364Gln)	single nucleotide variant	not specified [RCV004087165]	ChrX:49177067 [GRCh38] ChrX:49033416 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.562G>A (p.Glu188Lys)	single nucleotide variant	not specified [RCV004339352]	ChrX:49179253 [GRCh38] ChrX:49035602 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.491G>A (p.Arg164Gln)	single nucleotide variant	not specified [RCV004352192]	ChrX:49179324 [GRCh38] ChrX:49035673 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1135C>T (p.Arg379Cys)	single nucleotide variant	not specified [RCV004361258]	ChrX:49177023 [GRCh38] ChrX:49033372 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
NM_006150.5(PRICKLE3):c.473G>A (p.Arg158Gln)	single nucleotide variant	not specified [RCV004515038]	ChrX:49179342 [GRCh38] ChrX:49035691 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1052G>A (p.Arg351His)	single nucleotide variant	not specified [RCV004515024]	ChrX:49177106 [GRCh38] ChrX:49033455 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1187C>T (p.Ala396Val)	single nucleotide variant	not specified [RCV004515029]	ChrX:49176971 [GRCh38] ChrX:49033320 [GRCh37] ChrX:Xp11.23	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_006150.5(PRICKLE3):c.281C>T (p.Ala94Val)	single nucleotide variant	not specified [RCV004648611]	ChrX:49183765 [GRCh38] ChrX:49040218 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1709T>A (p.Leu570Gln)	single nucleotide variant	not specified [RCV004648612]	ChrX:49175812 [GRCh38] ChrX:49032161 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.610C>T (p.Arg204Cys)	single nucleotide variant	not specified [RCV004846113]	ChrX:49178430 [GRCh38] ChrX:49034779 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.200G>A (p.Arg67His)	single nucleotide variant	not specified [RCV004846114]	ChrX:49183846 [GRCh38] ChrX:49040299 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.647T>C (p.Phe216Ser)	single nucleotide variant	not specified [RCV004846115]	ChrX:49178393 [GRCh38] ChrX:49034742 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.1840G>A (p.Val614Met)	single nucleotide variant	not specified [RCV004846116]	ChrX:49175681 [GRCh38] ChrX:49032030 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.211C>T (p.Arg71Trp)	single nucleotide variant	not specified [RCV004846118]	ChrX:49183835 [GRCh38] ChrX:49040288 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.944G>A (p.Gly315Glu)	single nucleotide variant	not specified [RCV004846124]	ChrX:49178004 [GRCh38] ChrX:49034353 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.199C>T (p.Arg67Cys)	single nucleotide variant	not specified [RCV004846121]	ChrX:49183847 [GRCh38] ChrX:49040300 [GRCh37] ChrX:Xp11.23	uncertain significance
NM_006150.5(PRICKLE3):c.202A>C (p.Ile68Leu)	single nucleotide variant	not specified [RCV004846122]	ChrX:49183844 [GRCh38] ChrX:49040297 [GRCh37] ChrX:Xp11.23	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3473
Count of miRNA genes:	1090
Interacting mature miRNAs:	1356
Transcripts:	ENST00000376310, ENST00000376317, ENST00000417014, ENST00000432913, ENST00000453382, ENST00000536904, ENST00000538114, ENST00000540849
Prediction methods:	Miranda, Pita, 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.

D1S2714

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	11	q23.1	UniSTS
Cytogenetic Map	X	p11.23	UniSTS
Marshfield Genetic Map	1	161.05	RGD
Marshfield Genetic Map	1	161.05	UniSTS
Genethon Genetic Map	1	165.7	UniSTS

DXS9785

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	49,044,358 - 49,044,501	UniSTS	GRCh37
Build 36	X	48,931,302 - 48,931,445	RGD	NCBI36
Celera	X	52,619,868 - 52,620,011	RGD
Cytogenetic Map	X	p11.23	UniSTS
Cytogenetic Map	X	p11.23-p11.22	UniSTS
HuRef	X	46,701,429 - 46,701,572	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4972	1726	2351	6	624	1946	465	2270	7301	6467	53	3728	1	852	1744	1617	174	1


RefSeq Transcripts	NG_017135	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001307979	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006150	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA524273	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AC232271	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF196779	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ011654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK299407	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300866	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK303308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314788	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC002468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016856	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM981706	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BP227957	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471224	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR457211	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC407811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U93305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000376310

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,179,405 - 49,186,389 (-)	Ensembl

Ensembl Acc Id:

ENST00000376317 ⟹ ENSP00000365494

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,179,806 - 49,186,528 (-)	Ensembl

Ensembl Acc Id:

ENST00000432913 ⟹ ENSP00000390620

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,177,989 - 49,184,898 (-)	Ensembl

Ensembl Acc Id:

ENST00000453382 ⟹ ENSP00000388599

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,175,621 - 49,184,789 (-)	Ensembl

Ensembl Acc Id:

ENST00000540849 ⟹ ENSP00000446051

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,175,264 - 49,184,893 (-)	Ensembl

Ensembl Acc Id:

ENST00000599218 ⟹ ENSP00000470248

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,174,802 - 49,186,373 (-)	Ensembl

Ensembl Acc Id:

ENST00000611313

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,183,594 - 49,186,392 (-)	Ensembl

Ensembl Acc Id:

ENST00000614014

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	49,177,137 - 49,179,283 (-)	Ensembl

RefSeq Acc Id:

NM_001307979 ⟹ NP_001294908

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,174,802 - 49,184,893 (-)	NCBI
CHM1_1	X	49,063,476 - 49,073,671 (-)	NCBI
T2T-CHM13v2.0	X	48,586,552 - 48,596,747 (-)	NCBI

Sequence:

show sequence

CTCTGCCTCGGTTGTGTCCCGCTCCCCCGCACTCTGGGCGCTGTCCCAGCCTGCCCAGCGCTGCCCAGCCTCCAGAGGCAGAGGACCCAGACCGGGGCCAGCCCTGCAACTCCTGTAGGGAGCAGTGC
CCTGGCTTCCTGCTCCACGGCTGGAGAAAGATCTGCCAGCATTGCAAATGCCCGCGGGAGGAGCATGCAGTGCACGCGGTGCCTGTGGACCTGGAACGCATCATGTGTCGGCTAATCTCGGACTTCCA
GCGCCACTCCATCTCCGACGACGACTCAGGCTGTGCATCGGAGGAGTATGCCTGGGTGCCCCCAGGCCTTAAGCCGGAGCAGGTATATCAATTTTTCAGCTGCCTCCCAGAGGACAAGGTCCCCTACG
TCAACAGTCCTGGGGAGAAATACAGGATCAAGCAGCTGCTGCACCAGCTGCCCCCACACGACAGTGAGGCACAGTACTGCACAGCACTGGAAGAGGAGGAAAAGAAAGAGCTCCGAGCCTTTAGCCAG
CAGCGGAAGCGGGAGAATCTGGGGCGTGGCATCGTGCGCATCTTCCCGGTGACCATCACTGGGGCCATCTGTGAGGAGTGCGGAAAGCAGATTGGAGGTGGGGACATCGCAGTGTTTGCCAGCCGTGC
AGGCCTGGGTGCCTGCTGGCACCCACAGTGCTTCGTGTGTACCACGTGCCAGGAACTGCTGGTTGACCTCATCTACTTCTACCATGTTGGCAAGGTCTACTGCGGGCGTCACCATGCCGAATGCCTGC
GTCCACGCTGCCAAGCCTGTGACGAGATCATCTTCTCCCCTGAGTGCACGGAGGCTGAGGGCCGCCACTGGCACATGGATCACTTCTGCTGCTTTGAGTGTGAAGCTTCACTAGGAGGGCAGCGCTAT
GTCATGCGTCAGAGCCGCCCCCACTGCTGCGCCTGCTACGAGGCCCGCCACGCGGAGTACTGTGATGGCTGTGGGGAGCACATCGGCCTGGACCAAGGCCAGATGGCTTACGAGGGCCAGCACTGGCA
TGCCTCAGACCGCTGCTTCTGCTGTAGTCGCTGTGGGCGGGCCCTGCTGGGCCGCCCATTCCTGCCACGCCGAGGCCTAATCTTCTGCTCTCGAGCCTGCAGCCTTGGGTCCGAGCCCACAGCTCCAG
GGCCGAGCCGCCGCAGCTGGAGTGCCGGCCCTGTCACAGCCCCACTTGCAGCCTCCACAGCCTCTTTCTCTGCTGTGAAGGGGGCATCAGAGACCACCACCAAAGGCACCAGCACAGAGTTAGCGCCA
GCTACAGGCCCTGAGGAGCCCTCCCGCTTTCTGAGAGGGGCTCCCCACCGCCACTCCATGCCGGAACTGGGGCTCCGCAGTGTCCCCGAGCCGCCCCCAGAGTCCCCCGGCCAGCCTAACCTGCGCCC
AGATGATAGTGCCTTCGGTCGTCAGAGCACCCCACGCGTCAGCTTCCGCGACCCTCTGGTGTCTGAAGGAGGCCCGCGCCGGACCCTGAGTGCACCCCCGGCCCAGCGCCGCAGGCCACGCAGTCCCC
CACCCAGGGCCCCCAGCCGTCGCCGCCACCATCATCATAATCACCATCACCATCACAACCGCCACCCAAGCAGACGTCGCCACTATCAATGTGACGCGGGATCAGGGTCAGACTCGGAATCTTGCTCC
AGCTCGCCCTCCAGTTCCAGTTCCGAATCATCAGAGGATGATGGCTTCTTCCTAGGAGAGCGCATCCCTCTGCCCCCGCATTTGTGCAGGCCCATGCCTGCTCAGGACACTGCAATGGAGACCTTCAA
CTCCCCATCTTTATCGCTCCCCAGGGACTCTCGCGCAGGGATGCCTCGTCAGGCCCGAGACAAGAACTGCATCGTGGCTTGAAGGCAGGCCGTCCTGGAGGGGGCTCCATTCTCCAGTCAGAGTAGAT
GATGAGGCCCATGCCCCTCACCCCCACGCCCCGCCCCTACAACCTAAGTCATAAATCCTCTTCCTCCCTCCTTTATCAGTTTGTTTCTATTTTTGTTTCTGTTTTAGAGACTTGGTCTACCCTATTGC
CCAGGCTGGAGTGCAGTGGTGTGATCAGGGCTCACTGCAGCCTCAAAAGTTTTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCTCGTGTCAGCGTTCCCAGCTAAT
TTTTTAATTTTTTGGTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTAGAACTCCTGGGCTCAAGCAATCCTCCCGCAGCCTCCCAAAGGACTGGGATTACAGGCATGAGCCACCGCACCGGG
CCTCTCGTTTGTATTATTGAAGTAATTTAATATTTGTTGTAAAACAGGCCTGGCTTCTTTGCCTCCTTGCCCCAGCTGTTTCCACTCCATTTCCCCCTCCTGATGCTTGAAATTTACCCACATTTGAT
GAAAGGATTACTTTATTCATTATCGTATATTTTAACAATGTTTATTATTCATTTATCCCTCTATAGAACCACCACCCACACCGAGGAGATTATTTGGAGTGGGTCCCAACCTAGGGCCTGGACTCTGA
AATCTAACTCCCCACTTCCCTCATTTTGTGACTTAGGTGGGGGCATGGTTCAGTCAGAACTGGTGTCTCCTATTGGATCGTGCAGAAGGAGGACCTAGGCACACACATATGGTGGCCACACCCAGGAG
GGTTGATTGGCAGGCTGGAAGACAAAAGTCTCCCAATAAAGGCACTTTTACCTCAAA

hide sequence

RefSeq Acc Id:

NM_006150 ⟹ NP_006141

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,174,802 - 49,186,373 (-)	NCBI
GRCh37	X	49,031,546 - 49,042,981 (-)	NCBI
Build 36	X	48,918,850 - 48,929,720 (-)	NCBI Archive
Celera	X	52,621,593 - 52,632,463 (+)	RGD
HuRef	X	46,689,176 - 46,699,847 (-)	RGD
CHM1_1	X	49,063,476 - 49,075,174 (-)	NCBI
T2T-CHM13v2.0	X	48,586,552 - 48,598,227 (-)	NCBI

Sequence:

show sequence

GGACGCGCGGTGGCCTGACGGTCGCAAGGATTACATTCGCCTGACCCGGCCCGGCTTGACCCTG
CCCGGGCGCGCCATGTTCGCGCGTGGGTCCCGGAGGCGCCGCTCCGGGCGTGCGCCTCCAGAGGCAGAGGACCCAGACCGGGGCCAGCCCTGCAACTCCTGTAGGGAGCAGTGCCCTGGCTTCCTGCT
CCACGGCTGGAGAAAGATCTGCCAGCATTGCAAATGCCCGCGGGAGGAGCATGCAGTGCACGCGGTGCCTGTGGACCTGGAACGCATCATGTGTCGGCTAATCTCGGACTTCCAGCGCCACTCCATCT
CCGACGACGACTCAGGCTGTGCATCGGAGGAGTATGCCTGGGTGCCCCCAGGCCTTAAGCCGGAGCAGGTATATCAATTTTTCAGCTGCCTCCCAGAGGACAAGGTCCCCTACGTCAACAGTCCTGGG
GAGAAATACAGGATCAAGCAGCTGCTGCACCAGCTGCCCCCACACGACAGTGAGGCACAGTACTGCACAGCACTGGAAGAGGAGGAAAAGAAAGAGCTCCGAGCCTTTAGCCAGCAGCGGAAGCGGGA
GAATCTGGGGCGTGGCATCGTGCGCATCTTCCCGGTGACCATCACTGGGGCCATCTGTGAGGAGTGCGGAAAGCAGATTGGAGGTGGGGACATCGCAGTGTTTGCCAGCCGTGCAGGCCTGGGTGCCT
GCTGGCACCCACAGTGCTTCGTGTGTACCACGTGCCAGGAACTGCTGGTTGACCTCATCTACTTCTACCATGTTGGCAAGGTCTACTGCGGGCGTCACCATGCCGAATGCCTGCGTCCACGCTGCCAA
GCCTGTGACGAGATCATCTTCTCCCCTGAGTGCACGGAGGCTGAGGGCCGCCACTGGCACATGGATCACTTCTGCTGCTTTGAGTGTGAAGCTTCACTAGGAGGGCAGCGCTATGTCATGCGTCAGAG
CCGCCCCCACTGCTGCGCCTGCTACGAGGCCCGCCACGCGGAGTACTGTGATGGCTGTGGGGAGCACATCGGCCTGGACCAAGGCCAGATGGCTTACGAGGGCCAGCACTGGCATGCCTCAGACCGCT
GCTTCTGCTGTAGTCGCTGTGGGCGGGCCCTGCTGGGCCGCCCATTCCTGCCACGCCGAGGCCTAATCTTCTGCTCTCGAGCCTGCAGCCTTGGGTCCGAGCCCACAGCTCCAGGGCCGAGCCGCCGC
AGCTGGAGTGCCGGCCCTGTCACAGCCCCACTTGCAGCCTCCACAGCCTCTTTCTCTGCTGTGAAGGGGGCATCAGAGACCACCACCAAAGGCACCAGCACAGAGTTAGCGCCAGCTACAGGCCCTGA
GGAGCCCTCCCGCTTTCTGAGAGGGGCTCCCCACCGCCACTCCATGCCGGAACTGGGGCTCCGCAGTGTCCCCGAGCCGCCCCCAGAGTCCCCCGGCCAGCCTAACCTGCGCCCAGATGATAGTGCCT
TCGGTCGTCAGAGCACCCCACGCGTCAGCTTCCGCGACCCTCTGGTGTCTGAAGGAGGCCCGCGCCGGACCCTGAGTGCACCCCCGGCCCAGCGCCGCAGGCCACGCAGTCCCCCACCCAGGGCCCCC
AGCCGTCGCCGCCACCATCATCATAATCACCATCACCATCACAACCGCCACCCAAGCAGACGTCGCCACTATCAATGTGACGCGGGATCAGGGTCAGACTCGGAATCTTGCTCCAGCTCGCCCTCCAG
TTCCAGTTCCGAATCATCAGAGGATGATGGCTTCTTCCTAGGAGAGCGCATCCCTCTGCCCCCGCATTTGTGCAGGCCCATGCCTGCTCAGGACACTGCAATGGAGACCTTCAACTCCCCATCTTTAT
CGCTCCCCAGGGACTCTCGCGCAGGGATGCCTCGTCAGGCCCGAGACAAGAACTGCATCGTGGCTTGAAGGCAGGCCGTCCTGGAGGGGGCTCCATTCTCCAGTCAGAGTAGATGATGAGGCCCATGC
CCCTCACCCCCACGCCCCGCCCCTACAACCTAAGTCATAAATCCTCTTCCTCCCTCCTTTATCAGTTTGTTTCTATTTTTGTTTCTGTTTTAGAGACTTGGTCTACCCTATTGCCCAGGCTGGAGTGC
AGTGGTGTGATCAGGGCTCACTGCAGCCTCAAAAGTTTTGGGCTCAAGCTATCCTCCCACCTCAGCCTCCCAAGTAGCTGGGACTCCAGGCTCGTGTCAGCGTTCCCAGCTAATTTTTTAATTTTTTG
GTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTAGAACTCCTGGGCTCAAGCAATCCTCCCGCAGCCTCCCAAAGGACTGGGATTACAGGCATGAGCCACCGCACCGGGCCTCTCGTTTGTAT
TATTGAAGTAATTTAATATTTGTTGTAAAACAGGCCTGGCTTCTTTGCCTCCTTGCCCCAGCTGTTTCCACTCCATTTCCCCCTCCTGATGCTTGAAATTTACCCACATTTGATGAAAGGATTACTTT
ATTCATTATCGTATATTTTAACAATGTTTATTATTCATTTATCCCTCTATAGAACCACCACCCACACCGAGGAGATTATTTGGAGTGGGTCCCAACCTAGGGCCTGGACTCTGAAATCTAACTCCCCA
CTTCCCTCATTTTGTGACTTAGGTGGGGGCATGGTTCAGTCAGAACTGGTGTCTCCTATTGGATCGTGCAGAAGGAGGACCTAGGCACACACATATGGTGGCCACACCCAGGAGGGTTGATTGGCAGG
CTGGAAGACAAAAGTCTCCCAATAAAGGCACTTTTACCTCAAA

hide sequence


Protein RefSeqs	NP_001294908	(Get FASTA)	NCBI Sequence Viewer
	NP_006141	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB92357	(Get FASTA)	NCBI Sequence Viewer
	AAH02468	(Get FASTA)	NCBI Sequence Viewer
	AAH16856	(Get FASTA)	NCBI Sequence Viewer
	AAP36091	(Get FASTA)	NCBI Sequence Viewer
	BAG37320	(Get FASTA)	NCBI Sequence Viewer
	BAH13026	(Get FASTA)	NCBI Sequence Viewer
	BAH13360	(Get FASTA)	NCBI Sequence Viewer
	BAH13918	(Get FASTA)	NCBI Sequence Viewer
	BAH13938	(Get FASTA)	NCBI Sequence Viewer
	CAA09726	(Get FASTA)	NCBI Sequence Viewer
	CAG33492	(Get FASTA)	NCBI Sequence Viewer
	EAW50686	(Get FASTA)	NCBI Sequence Viewer
	EAW50687	(Get FASTA)	NCBI Sequence Viewer
	EAW50688	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000388599
	ENSP00000470248
	ENSP00000470248.1
GenBank Protein	O43900	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006141 ⟸ NM_006150
- Peptide Label:	isoform 1
- UniProtKB:	O76007 (UniProtKB/Swiss-Prot), B7Z8F2 (UniProtKB/Swiss-Prot), Q53XR5 (UniProtKB/Swiss-Prot), O43900 (UniProtKB/Swiss-Prot), Q6IAE4 (UniProtKB/TrEMBL), B2RBS3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFARGSRRRRSGRAPPEAEDPDRGQPCNSCREQCPGFLLHGWRKICQHCKCPREEHAVHAVPVDLERIMCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQVYQFFSCLPEDKVPYVNSPGEKYR IKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGGDIAVFASRAGLGACWHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDE IIFSPECTEAEGRHWHMDHFCCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCGEHIGLDQGQMAYEGQHWHASDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSA GPVTAPLAASTASFSAVKGASETTTKGTSTELAPATGPEEPSRFLRGAPHRHSMPELGLRSVPEPPPESPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAPSRRR HHHHNHHHHHNRHPSRRRHYQCDAGSGSDSESCSSSPSSSSSESSEDDGFFLGERIPLPPHLCRPMPAQDTAMETFNSPSLSLPRDSRAGMPRQARDKNCIVA hide sequence

RefSeq Acc Id:	NP_001294908 ⟸ NM_001307979
- Peptide Label:	isoform 2
- UniProtKB:	B7Z8D2 (UniProtKB/TrEMBL), H0Y413 (UniProtKB/TrEMBL)
- Sequence:	show sequence MCRLISDFQRHSISDDDSGCASEEYAWVPPGLKPEQVYQFFSCLPEDKVPYVNSPGEKYRIKQLLHQLPPHDSEAQYCTALEEEEKKELRAFSQQRKRENLGRGIVRIFPVTITGAICEECGKQIGGG DIAVFASRAGLGACWHPQCFVCTTCQELLVDLIYFYHVGKVYCGRHHAECLRPRCQACDEIIFSPECTEAEGRHWHMDHFCCFECEASLGGQRYVMRQSRPHCCACYEARHAEYCDGCGEHIGLDQGQ MAYEGQHWHASDRCFCCSRCGRALLGRPFLPRRGLIFCSRACSLGSEPTAPGPSRRSWSAGPVTAPLAASTASFSAVKGASETTTKGTSTELAPATGPEEPSRFLRGAPHRHSMPELGLRSVPEPPPE SPGQPNLRPDDSAFGRQSTPRVSFRDPLVSEGGPRRTLSAPPAQRRRPRSPPPRAPSRRRHHHHNHHHHHNRHPSRRRHYQCDAGSGSDSESCSSSPSSSSSESSEDDGFFLGERIPLPPHLCRPMPA QDTAMETFNSPSLSLPRDSRAGMPRQARDKNCIVA hide sequence

Ensembl Acc Id:

ENSP00000470248 ⟸ ENST00000599218

Ensembl Acc Id:

ENSP00000388599 ⟸ ENST00000453382

Ensembl Acc Id:

ENSP00000365494 ⟸ ENST00000376317

Protein Domains

LIM zinc-binding PET

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-O43900-F1-model_v2	AlphaFold	O43900	1-615	view protein structure

RGD ID:

6809145

Promoter ID:

HG_KWN:66749

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000060809, OTTHUMT00000060812

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,928,051 - 48,929,092 (-)	MPROMDB

RGD ID:

6809148

Promoter ID:

HG_KWN:66750

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000376310, OTTHUMT00000060810, OTTHUMT00000060811

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	48,929,569 - 48,930,069 (-)	MPROMDB

RGD ID:

13605296

Promoter ID:

EPDNEW_H28832

Type:

initiation region

Name:

PRICKLE3_1

Description:

prickle planar cell polarity protein 3

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	49,186,373 - 49,186,433	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PRICKLE3	COSMIC
Ensembl Genes	ENSG00000012211	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000453382	ENTREZGENE
	ENST00000599218	ENTREZGENE
	ENST00000599218.6	UniProtKB/Swiss-Prot
Gene3D-CATH	Cysteine Rich Protein	UniProtKB/Swiss-Prot
GTEx	ENSG00000012211	GTEx
HGNC ID	HGNC:6645	ENTREZGENE
Human Proteome Map	PRICKLE3	Human Proteome Map
InterPro	LIM1_prickle	UniProtKB/Swiss-Prot
	LIM2_prickle	UniProtKB/Swiss-Prot
	LIM3_prickle	UniProtKB/Swiss-Prot
	PET_domain	UniProtKB/Swiss-Prot
	PET_prickle	UniProtKB/Swiss-Prot
	Pk/Esn/Tes	UniProtKB/Swiss-Prot
	Znf_LIM	UniProtKB/Swiss-Prot
KEGG Report	hsa:4007	UniProtKB/Swiss-Prot
NCBI Gene	4007	ENTREZGENE
OMIM	300111	OMIM
PANTHER	LIM DOMAIN-CONTAINING PROTEIN	UniProtKB/Swiss-Prot
	PRICKLE PLANAR CELL POLARITY PROTEIN 3	UniProtKB/Swiss-Prot
Pfam	LIM	UniProtKB/Swiss-Prot
	PET	UniProtKB/Swiss-Prot
PharmGKB	PA162400060	PharmGKB
PROSITE	LIM_DOMAIN_1	UniProtKB/Swiss-Prot
	LIM_DOMAIN_2	UniProtKB/Swiss-Prot
	PET	UniProtKB/Swiss-Prot
SMART	LIM	UniProtKB/Swiss-Prot
Superfamily-SCOP	Glucocorticoid receptor-like (DNA-binding domain)	UniProtKB/Swiss-Prot
UniProt	A0A0A0MRT7_HUMAN	UniProtKB/TrEMBL
	B2RBS3	ENTREZGENE, UniProtKB/TrEMBL
	B7Z5U0_HUMAN	UniProtKB/TrEMBL
	B7Z8D2	ENTREZGENE, UniProtKB/TrEMBL
	B7Z8F2	ENTREZGENE
	F5H4N2_HUMAN	UniProtKB/TrEMBL
	H0Y413	ENTREZGENE, UniProtKB/TrEMBL
	H7BZP7_HUMAN	UniProtKB/TrEMBL
	O43900	ENTREZGENE
	O76007	ENTREZGENE
	PRIC3_HUMAN	UniProtKB/Swiss-Prot
	Q53XR5	ENTREZGENE
	Q6IAE4	ENTREZGENE, UniProtKB/TrEMBL
UniProt Secondary	B7Z8F2	UniProtKB/Swiss-Prot
	O76007	UniProtKB/Swiss-Prot
	Q53XR5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-01-19	PRICKLE3	prickle planar cell polarity protein 3		prickle homolog 3	Symbol and/or name change	5135510	APPROVED
2015-07-28	PRICKLE3	prickle homolog 3		prickle homolog 3 (Drosophila)	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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Imported Disease Annotations - MGI

Imported Disease Annotations - OMIM

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Imported Human Phenotype Annotations - ClinVar