ARR3 (arrestin 3) - Rat Genome Database

Name: ARR3
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

Gene: ARR3 (arrestin 3) Homo sapiens

Analyze

Symbol:

ARR3

Name:

arrestin 3

RGD ID:

1350252

HGNC Page

HGNC:710

Description:

Predicted to enable G protein-coupled receptor binding activity. Predicted to be involved in G protein-coupled receptor internalization and visual perception. Predicted to act upstream of or within endocytosis and regulation of protein phosphorylation. Located in photoreceptor inner segment. Implicated in myopia.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

arrestin 3 retinal (X-arrestin); arrestin 3, retinal (X-arrestin); arrestin 4; arrestin-C; ARRX; C-arrestin; cArr; cone arrestin; MYP26; retinal cone arrestin-3; X-arrestin

RGD Orthologs

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Arr3 (arrestin 3, retinal)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Arr3 (arrestin 3)	HGNC	EggNOG, Ensembl, HomoloGene, NCBI, OMA, OrthoDB, OrthoMCL, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Arr3 (arrestin 3)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	ARR3 (arrestin 3)	NCBI	Ortholog
Canis lupus familiaris (dog):	ARR3 (arrestin 3)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Arr3 (arrestin 3)	NCBI	Ortholog
Sus scrofa (pig):	ARR3 (arrestin 3)	HGNC	Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Treefam
Chlorocebus sabaeus (green monkey):	ARR3 (arrestin 3)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Arr3 (arrestin 3)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Arr3 (arrestin 3)	Alliance	DIOPT (HGNC\|OrthoFinder\|PhylomeDB)
Mus musculus (house mouse):	Arr3 (arrestin 3, retinal)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	arr3b (arrestin 3b, retinal (X-arrestin))	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|ZFIN)
Danio rerio (zebrafish):	arr3a (arrestin 3a, retinal (X-arrestin))	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB\|ZFIN)
Caenorhabditis elegans (roundworm):	arr-1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	krz	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus tropicalis (tropical clawed frog):	arr3	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	arr3.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	X	70,268,334 - 70,281,883 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	70,268,305 - 70,281,840 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	69,488,184 - 69,501,690 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	69,404,910 - 69,418,415 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	69,271,222 - 69,284,711	NCBI
Celera	X	69,841,522 - 69,855,024 (+)	NCBI		Celera
Cytogenetic Map	X	q13.1	NCBI
HuRef	X	63,309,253 - 63,322,604 (+)	NCBI		HuRef
CHM1_1	X	69,382,163 - 69,395,648 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	68,701,653 - 68,715,201 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

epilepsy (IAGP)

genetic disease (IAGP)

Myopia 26, X-Linked, Female-Limited (IAGP)

syndromic microphthalmia 5 (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

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

6-propyl-2-thiouracil (ISO)

amitrole (ISO)

ammonium chloride (ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

cadmium dichloride (EXP)

copper atom (ISO)

copper(0) (ISO)

D-mannitol (ISO)

genistein (ISO)

gentamycin (ISO)

methoxychlor (ISO)

paclitaxel (EXP)

paracetamol (EXP)

propiconazole (ISO)

silicon dioxide (EXP)

titanium dioxide (ISO)

trichloroethene (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

endocytosis (IEA,ISO)

G protein-coupled receptor internalization (IBA)

regulation of protein phosphorylation (IEA,ISO)

signal transduction (IEA,TAS)

visual perception (IBA,IEA,TAS)

Cellular Component

cell projection (IEA)

cytoplasm (TAS)

photoreceptor inner segment (IDA,IEA)

photoreceptor outer segment (IEA)

synapse (IEA)

Molecular Function

G protein-coupled receptor binding (IBA)

opsin binding (IEA)

phosphoprotein binding (IEA)

protein binding (IPI,ISO)

protein domain specific binding (ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

eicosanoid signaling pathway (EXP)

visual phototransduction pathway (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

High myopia (IAGP)

Seizure (IAGP)

X-linked inheritance (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Photoreceptor signaling: supporting vision across a wide range of light intensities.	Arshavsky VY and Burns ME, J Biol Chem. 2012 Jan 13;287(3):1620-6. Epub 2011 Nov 10.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	The functional cycle of visual arrestins in photoreceptor cells.	Gurevich VV, etal., Prog Retin Eye Res. 2011 Nov;30(6):405-30. Epub 2011 Jul 29.
4.	Identification of a short linear sequence present in the C-terminal tail of the rat follitropin receptor that modulates arrestin-3 binding in a phosphorylation-independent fashion.	Kishi H, etal., J Biol Chem 2002 Jun 14;277(24):21939-46.
5.	PID Annotation Import Pipeline	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
6.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8224247	PMID:8308033	PMID:8612728	PMID:9852134	PMID:9931451	PMID:11063754	PMID:11729201	PMID:11877451	PMID:12477932	PMID:12486395	PMID:12824223	PMID:12850288
PMID:12853434	PMID:12918707	PMID:15489334	PMID:15772651	PMID:16169070	PMID:16189514	PMID:17353931	PMID:17620599	PMID:17680991	PMID:18802075	PMID:19001375	PMID:20056609
PMID:20460384	PMID:21203429	PMID:21516116	PMID:21873635	PMID:22242112	PMID:22378779	PMID:22523077	PMID:23139825	PMID:23704327	PMID:24292834	PMID:24412749	PMID:24867953
PMID:25416956	PMID:25425623	PMID:27829781	PMID:28514442	PMID:28733084	PMID:29944985	PMID:30021884	PMID:30591558	PMID:32296183	PMID:32814053	PMID:33961781	PMID:35001458
PMID:36180177	PMID:36250246	PMID:36658650	PMID:36724073	PMID:37795829	PMID:38517428

Genomics

Comparative Map Data

ARR3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	70,268,334 - 70,281,883 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	70,268,305 - 70,281,840 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	69,488,184 - 69,501,690 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	69,404,910 - 69,418,415 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	69,271,222 - 69,284,711	NCBI
Celera	X	69,841,522 - 69,855,024 (+)	NCBI		Celera
Cytogenetic Map	X	q13.1	NCBI
HuRef	X	63,309,253 - 63,322,604 (+)	NCBI		HuRef
CHM1_1	X	69,382,163 - 69,395,648 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	68,701,653 - 68,715,201 (+)	NCBI		T2T-CHM13v2.0

Arr3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	99,649,086 - 99,662,099 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	99,649,103 - 99,662,099 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	100,605,480 - 100,618,493 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	100,605,497 - 100,618,493 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	97,800,836 - 97,813,832 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	96,808,275 - 96,821,212 (+)	NCBI		MGSCv36	mm8
Celera	X	87,531,523 - 87,544,518 (+)	NCBI		Celera
Cytogenetic Map	X	C3	NCBI
cM Map	X	43.72	NCBI

Arr3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	69,739,959 - 69,752,300 (+)	NCBI		GRCr8
mRatBN7.2	X	65,699,881 - 65,712,224 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	65,698,699 - 65,712,153 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	67,183,297 - 67,195,639 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	70,683,687 - 70,696,028 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	68,244,588 - 68,256,931 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	70,438,590 - 70,452,140 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	70,438,617 - 70,452,067 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	71,310,209 - 71,323,756 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	88,602,380 - 88,614,721 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	X	88,684,283 - 88,688,153 (+)	NCBI
Celera	X	66,058,741 - 66,071,082 (+)	NCBI		Celera
Cytogenetic Map	X	q22	NCBI

Arr3
(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_004955475	9,819,792 - 9,835,200 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955475	9,819,783 - 9,835,526 (+)	NCBI	ChiLan1.0	ChiLan1.0

ARR3
(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	69,945,634 - 69,959,110 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	69,949,236 - 69,962,712 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	59,536,796 - 59,550,274 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	69,596,163 - 69,609,624 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	69,596,163 - 69,609,624 (+)	Ensembl	panpan1.1		panPan2

ARR3
(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	54,725,034 - 54,730,920 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	54,718,323 - 54,730,852 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	45,544,260 - 45,556,911 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	55,684,406 - 55,697,072 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	55,684,472 - 55,697,004 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	53,653,383 - 53,666,039 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	54,984,189 - 54,997,103 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	54,911,364 - 54,924,024 (+)	NCBI		UU_Cfam_GSD_1.0

Arr3
(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	47,432,077 - 47,445,740 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936762	1,194,166 - 1,208,844 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936762	1,194,251 - 1,207,914 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ARR3
(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	56,296,596 - 56,310,506 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	56,295,107 - 56,310,507 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	63,491,381 - 63,505,290 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ARR3
(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	60,111,875 - 60,127,144 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	60,114,643 - 60,127,255 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	1,958,268 - 1,971,777 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Arr3
(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 1.0	NW_004624903	246,888 - 255,169 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ARR3
27 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_004312.3(ARR3):c.298C>T (p.Arg100Ter)	single nucleotide variant	Myopia 26, X-linked, female-limited [RCV000548664]	ChrX:70276234 [GRCh38] ChrX:69496084 [GRCh37] ChrX:Xq13.1	pathogenic
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: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 Xq13.1(chrX:69880987-70415042)x3	copy number gain	See cases [RCV000051136]	ChrX:69880987..70415042 [GRCh38] ChrX:69100823..69634892 [GRCh37] ChrX:69017548..69551617 [NCBI36] ChrX:Xq13.1	uncertain significance
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	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: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 Xq11.1-13.1(chrX:62712219-71136309)x2	copy number gain	See cases [RCV000052415]	ChrX:62712219..71136309 [GRCh38] ChrX:61931689..70356159 [GRCh37] ChrX:61848414..70272884 [NCBI36] ChrX:Xq11.1-13.1	pathogenic
GRCh38/hg38 Xq12-21.1(chrX:67621041-76868590)x2	copy number gain	See cases [RCV000052416]	ChrX:67621041..76868590 [GRCh38] ChrX:66840883..76009501 [GRCh37] ChrX:66757608..76005403 [NCBI36] ChrX:Xq12-21.1	pathogenic
GRCh38/hg38 Xq12-13.3(chrX:68382004-75243150)x2	copy number gain	See cases [RCV000052417]	ChrX:68382004..75243150 [GRCh38] ChrX:67601846..74462985 [GRCh37] ChrX:67518571..74379710 [NCBI36] ChrX:Xq12-13.3	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 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 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-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-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
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 Xp22.33-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-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 Xq11.1-21.1(chrX:62712219-78605009)x3	copy number gain	See cases [RCV000134569]	ChrX:62712219..78605009 [GRCh38] ChrX:61931689..77860506 [GRCh37] ChrX:61848414..77747162 [NCBI36] ChrX:Xq11.1-21.1	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 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
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 Xp11.22-q21.31(chrX:53985575-92203108)x1	copy number loss	See cases [RCV000135306]	ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31	pathogenic
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: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 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 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 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	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 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 Xp22.2-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: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 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
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 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-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-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 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq12-21.1(chrX:66445907-78172208)x3	copy number gain	See cases [RCV000142336]	ChrX:66445907..78172208 [GRCh38] ChrX:65665749..77427705 [GRCh37] ChrX:65582474..77314361 [NCBI36] ChrX:Xq12-21.1	pathogenic
GRCh38/hg38 Xq13.1(chrX:69839596-70301821)x1	copy number loss	See cases [RCV000142507]	ChrX:69839596..70301821 [GRCh38] ChrX:69059438..69521671 [GRCh37] ChrX:68976163..69438396 [NCBI36] ChrX:Xq13.1	likely pathogenic\|uncertain significance
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 Xq13.1(chrX:69991690-70536572)x2	copy number gain	See cases [RCV000143093]	ChrX:69991690..70536572 [GRCh38] ChrX:69211540..69756422 [GRCh37] ChrX:69128265..69673147 [NCBI36] ChrX:Xq13.1	uncertain significance
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 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-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 Xp11.21-q13.3(chrX:56431359-76557419)x1	copy number loss	See cases [RCV000143131]	ChrX:56431359..76557419 [GRCh38] ChrX:56457792..75777827 [GRCh37] ChrX:56474517..75694231 [NCBI36] ChrX:Xp11.21-q13.3	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-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
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
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	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-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
NM_004312.3(ARR3):c.1052C>T (p.Pro351Leu)	single nucleotide variant	Anophthalmia-microphthalmia syndrome [RCV000207379]\|not provided [RCV001573333]	ChrX:70280804 [GRCh38] ChrX:69500654 [GRCh37] ChrX:Xq13.1	likely benign\|uncertain significance
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:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [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:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q21.1(chrX:55240087-78225374)x1	copy number loss	See cases [RCV000511311]	ChrX:55240087..78225374 [GRCh37] ChrX:Xp11.21-q21.1	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 Xq13.1(chrX:69455964-69509119)x2	copy number gain	See cases [RCV000239916]	ChrX:69455964..69509119 [GRCh37] ChrX:Xq13.1	uncertain significance
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:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [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 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	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
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:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [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 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	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 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 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	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:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [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-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-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 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	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 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-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq13.1(chrX:68903474-69583031)x3	copy number gain	See cases [RCV000511184]	ChrX:68903474..69583031 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
NM_004312.3(ARR3):c.239T>C (p.Leu80Pro)	single nucleotide variant	Myopia 26, X-linked, female-limited [RCV000527050]	ChrX:70276175 [GRCh38] ChrX:69496025 [GRCh37] ChrX:Xq13.1	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_004312.3(ARR3):c.893C>A (p.Ala298Asp)	single nucleotide variant	Myopia 26, X-linked, female-limited [RCV000538305]	ChrX:70278629 [GRCh38] ChrX:69498479 [GRCh37] ChrX:Xq13.1	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Seizure [RCV000677113]	ChrX:69478269..69722349 [GRCh37] ChrX:Xq13.1	likely pathogenic
Single allele	duplication	not provided [RCV000677968]	ChrX:69455964..69509119 [GRCh37] ChrX:Xq13.1	uncertain significance
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 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	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 Xq13.1(chrX:69404829-69678142)x2	copy number gain	not provided [RCV000753574]	ChrX:69404829..69678142 [GRCh37] ChrX:Xq13.1	benign
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:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [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
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] 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 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_004312.3(ARR3):c.100+7G>A	single nucleotide variant	not provided [RCV000921560]	ChrX:70269910 [GRCh38] ChrX:69489760 [GRCh37] ChrX:Xq13.1	likely benign
NM_004312.3(ARR3):c.346-4C>T	single nucleotide variant	not provided [RCV000882849]	ChrX:70276429 [GRCh38] ChrX:69496279 [GRCh37] ChrX:Xq13.1	benign
NM_004312.3(ARR3):c.621C>T (p.His207=)	single nucleotide variant	not provided [RCV000882850]	ChrX:70277727 [GRCh38] ChrX:69497577 [GRCh37] ChrX:Xq13.1	benign
NM_004312.3(ARR3):c.896C>G (p.Ser299Cys)	single nucleotide variant	not provided [RCV000881605]	ChrX:70278632 [GRCh38] ChrX:69498482 [GRCh37] ChrX:Xq13.1	benign
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-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	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 Xq13.1(chrX:69437265-69583031)x2	copy number gain	not provided [RCV000845985]	ChrX:69437265..69583031 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_004312.3(ARR3):c.1030C>T (p.Leu344=)	single nucleotide variant	not provided [RCV000939462]	ChrX:70280782 [GRCh38] ChrX:69500632 [GRCh37] ChrX:Xq13.1	likely benign
GRCh37/hg19 Xq13.1(chrX:69216192-69529923)x3	copy number gain	not provided [RCV002473475]	ChrX:69216192..69529923 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xq13.1(chrX:69218433-69535034)x3	copy number gain	not provided [RCV001259002]	ChrX:69218433..69535034 [GRCh37] ChrX:Xq13.1	uncertain significance
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	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 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-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
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79123671)	copy number gain	not specified [RCV002053135]	ChrX:61877278..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61974855-79123671)	copy number gain	not specified [RCV002053136]	ChrX:61974855..79123671 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
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 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	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-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_004312.3(ARR3):c.214C>T (p.Arg72Ter)	single nucleotide variant	ARR3-related condition [RCV003408193]\|Myopia 26, X-linked, female-limited [RCV002267571]	ChrX:70276150 [GRCh38] ChrX:69496000 [GRCh37] ChrX:Xq13.1	pathogenic
NM_004312.3(ARR3):c.1106C>T (p.Thr369Met)	single nucleotide variant	Inborn genetic diseases [RCV002859566]	ChrX:70281705 [GRCh38] ChrX:69501555 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.844C>T (p.Arg282Trp)	single nucleotide variant	Inborn genetic diseases [RCV002997740]	ChrX:70278580 [GRCh38] ChrX:69498430 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.574C>G (p.Gln192Glu)	single nucleotide variant	Inborn genetic diseases [RCV002916975]	ChrX:70277494 [GRCh38] ChrX:69497344 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.836G>A (p.Cys279Tyr)	single nucleotide variant	Inborn genetic diseases [RCV002697824]	ChrX:70278572 [GRCh38] ChrX:69498422 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.1069G>T (p.Ala357Ser)	single nucleotide variant	Inborn genetic diseases [RCV002804536]	ChrX:70281101 [GRCh38] ChrX:69500951 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.983G>C (p.Cys328Ser)	single nucleotide variant	Inborn genetic diseases [RCV002813771]	ChrX:70280272 [GRCh38] ChrX:69500122 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.554G>C (p.Arg185Pro)	single nucleotide variant	Inborn genetic diseases [RCV002814186]	ChrX:70277474 [GRCh38] ChrX:69497324 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.132A>C (p.Leu44Phe)	single nucleotide variant	Inborn genetic diseases [RCV003174212]	ChrX:70270131 [GRCh38] ChrX:69489981 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.317G>T (p.Gly106Val)	single nucleotide variant	Inborn genetic diseases [RCV003306754]	ChrX:70276253 [GRCh38] ChrX:69496103 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.417T>G (p.Ile139Met)	single nucleotide variant	Inborn genetic diseases [RCV003386790]	ChrX:70276680 [GRCh38] ChrX:69496530 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.553C>T (p.Arg185Cys)	single nucleotide variant	Myopia 26, X-linked, female-limited [RCV003459035]	ChrX:70277473 [GRCh38] ChrX:69497323 [GRCh37] ChrX:Xq13.1	benign
GRCh37/hg19 Xq13.1(chrX:68923582-69563323)x3	copy number gain	not provided [RCV003485298]	ChrX:68923582..69563323 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.577C>T (p.Pro193Ser)	single nucleotide variant	not provided [RCV003438480]	ChrX:70277497 [GRCh38] ChrX:69497347 [GRCh37] ChrX:Xq13.1	likely benign
NM_004312.3(ARR3):c.649A>G (p.Ile217Val)	single nucleotide variant	not provided [RCV003438481]	ChrX:70277755 [GRCh38] ChrX:69497605 [GRCh37] ChrX:Xq13.1	likely benign
NM_004312.3(ARR3):c.103G>A (p.Gly35Ser)	single nucleotide variant	ARR3-related condition [RCV003408611]\|not provided [RCV003699090]	ChrX:70270102 [GRCh38] ChrX:69489952 [GRCh37] ChrX:Xq13.1	uncertain significance
NM_004312.3(ARR3):c.915G>A (p.Pro305=)	single nucleotide variant	not provided [RCV003438482]	ChrX:70280204 [GRCh38] ChrX:69500054 [GRCh37] ChrX:Xq13.1	likely benign
NM_004312.3(ARR3):c.972G>C (p.Leu324=)	single nucleotide variant	not provided [RCV003438483]	ChrX:70280261 [GRCh38] ChrX:69500111 [GRCh37] ChrX:Xq13.1	likely benign
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	copy number gain	not specified [RCV003986197]	ChrX:68040342..100863081 [GRCh37] ChrX:Xq13.1-22.1	pathogenic
GRCh37/hg19 Xq11.1-21.1(chrX:61877278-79122848)	copy number gain	not specified [RCV003986211]	ChrX:61877278..79122848 [GRCh37] ChrX:Xq11.1-21.1	pathogenic
NM_004312.3(ARR3):c.27C>T (p.Ser9=)	single nucleotide variant	ARR3-related condition [RCV003979180]	ChrX:70269680 [GRCh38] ChrX:69489530 [GRCh37] ChrX:Xq13.1	benign
NM_004312.3(ARR3):c.330C>A (p.Tyr110Ter)	single nucleotide variant	ARR3-related condition [RCV003902289]	ChrX:70276266 [GRCh38] ChrX:69496116 [GRCh37] ChrX:Xq13.1	likely pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NC_000023.11:g.(?_66445907)_(78172208_?)dup	duplication	Xq13q21 duplication [RCV003885331]	ChrX:66445907..78172208 [GRCh38] ChrX:Xq12-21.1	pathogenic
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
GRCh38/hg38 Xq13.1(chrX:69880987-70512644)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054209]\|See cases [RCV000054209]	ChrX:69880987..70512644 [GRCh38] ChrX:69100823..69732494 [GRCh37] ChrX:69017548..69649219 [NCBI36] ChrX:Xq13.1	uncertain significance
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
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:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_004312.3(ARR3):c.556C>T (p.Arg186Cys)	single nucleotide variant	Inborn genetic diseases [RCV003239440]	ChrX:70277476 [GRCh38] ChrX:69497326 [GRCh37] ChrX:Xq13.1	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	991
Count of miRNA genes:	633
Interacting mature miRNAs:	683
Transcripts:	ENST00000307959, ENST00000374495, ENST00000477379, ENST00000480877
Prediction methods:	Microtar, 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.

Markers in Region

DXS7111

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	69,498,078 - 69,498,226	UniSTS	GRCh37
Build 36	X	69,414,803 - 69,414,951	RGD	NCBI36
Celera	X	69,851,412 - 69,851,560	RGD
Cytogenetic Map	X	cen-q21	UniSTS
HuRef	X	63,318,991 - 63,319,139	UniSTS

L77849

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	69,498,056 - 69,498,154	UniSTS	GRCh37
Build 36	X	69,414,781 - 69,414,879	RGD	NCBI36
Celera	X	69,851,390 - 69,851,488	RGD
Cytogenetic Map	X	cen-q21	UniSTS
HuRef	X	63,318,969 - 63,319,067	UniSTS

SHGC-30005

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	69,501,540 - 69,501,665	UniSTS	GRCh37
Build 36	X	69,418,265 - 69,418,390	RGD	NCBI36
Celera	X	69,854,874 - 69,854,999	RGD
Cytogenetic Map	X	q13.1	UniSTS
Cytogenetic Map	X	cen-q21	UniSTS
HuRef	X	63,322,454 - 63,322,579	UniSTS
TNG Radiation Hybrid Map	X	16139.0	UniSTS
GeneMap99-G3 RH Map	X	2145.0	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

High

Medium

Low

293

283

648

765

230

133

227

358

355

Below cutoff

1976

2525

1340

466

968

308

3264

1796

2771

250

1140

1147

158

1121

2159

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_050734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327056	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF033105	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH006313	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005466	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005467	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005468	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ005470	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC012096	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG472156	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471132	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456849	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	EU883571	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U03626	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000307959 ⟹ ENSP00000311538

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	70,268,334 - 70,281,840 (+)	Ensembl

RefSeq Acc Id:

ENST00000374495 ⟹ ENSP00000363619

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	70,268,305 - 70,281,232 (+)	Ensembl

RefSeq Acc Id:

ENST00000477379

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	70,268,334 - 70,270,009 (+)	Ensembl

RefSeq Acc Id:

ENST00000480877 ⟹ ENSP00000425505

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	70,268,346 - 70,276,707 (+)	Ensembl

RefSeq Acc Id:

ENST00000620997 ⟹ ENSP00000480426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	70,268,335 - 70,281,840 (+)	Ensembl

RefSeq Acc Id:

NM_004312 ⟹ NP_004303

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	70,268,334 - 70,281,840 (+)	NCBI
GRCh37	X	69,488,185 - 69,501,691 (+)	NCBI
Build 36	X	69,404,910 - 69,418,415 (+)	NCBI Archive
HuRef	X	63,309,253 - 63,322,604 (+)	ENTREZGENE
CHM1_1	X	69,382,163 - 69,395,648 (+)	NCBI
T2T-CHM13v2.0	X	68,701,653 - 68,715,158 (+)	NCBI

Sequence:

show sequence

AGAGCTGGAGACTGATGTGAACTTCATCTCTCTCCCCAGAAAAGGCTCAACATCAACTATATAG
CCAACATGTCCAAGGTGTTTAAGAAGACCAGCTCCAATGGGAAGCTCTCCATCTACCTGGGGAA
ACGGGACTTCGTGGACCATGTGGACACGGTGGAACCCATTGACGGTGTTGTCCTGGTTGATCCT
GAGTACTTAAAATGTCGAAAGTTGTTTGTCATGTTGACATGTGCCTTTCGCTATGGCCGTGATG
ACTTGGAAGTGATTGGTCTGACGTTCCGAAAAGATCTGTATGTGCAGACCCTGCAAGTGGTCCC
AGCTGAATCCAGCAGCCCTCAGGGGCCCCTCACAGTCCTACAGGAGCGACTACTGCACAAGCTA
GGGGACAATGCCTACCCCTTTACCCTGCAGATGGTGACCAACCTGCCCTGTTCTGTGACACTGC
AGCCAGGTCCTGAAGATGCAGGAAAGCCCTGTGGGATTGACTTTGAAGTGAAGAGTTTCTGTGC
TGAAAACCCAGAGGAGACAGTCTCCAAGAGAGACTATGTGCGGCTGGTTGTCCGGAAAGTACAA
TTTGCACCACCGGAGGCAGGCCCTGGCCCCTCAGCCCAGACCATCCGCCGCTTCCTTCTGTCAG
CTCAGCCCCTACAACTCCAGGCCTGGATGGACAGGGAGGTTCACTACCACGGAGAACCCATCTC
TGTCAATGTTTCTATCAACAACTGCACCAACAAGGTCATCAAAAAAATCAAGATTTCAGTTGAC
CAGATCACAGATGTTGTCCTGTATTCACTAGACAAGTACACCAAGACTGTGTTCATTCAGGAAT
TCACGGAGACTGTAGCTGCTAATTCCAGCTTCTCCCAGAGCTTTGCAGTAACCCCAATCCTGGC
TGCCAGCTGCCAGAAACGGGGCCTGGCACTGGATGGCAAACTTAAGCATGAAGATACCAACCTG
GCCTCTAGCACAATTATTAGACCGGGAATGGACAAAGAGCTGCTGGGGATCCTGGTGTCCTACA
AAGTCAGAGTCAACCTGATGGTGTCCTGTGGTGGCATCCTAGGAGACCTGACAGCCAGCGATGT
TGGTGTGGAGCTACCCTTGGTCCTGATCCATCCGAAGCCATCTCATGAGGCCGCTAGCTCTGAG
GACATAGTCATCGAGGAGTTTACGCGGAAAGGCGAGGAGGAGAGCCAGAAGGCTGTGGAGGCTG
AGGGAGATGAGGGGAGCTGAGCACCTCGCTCTGGTGCCCGTCTGTGTGGGAGCCCCCACTGTAA
CACTCTAATAAATCAGTTTGTTCAGATGTG

hide sequence

RefSeq Acc Id:

XM_047442105 ⟹ XP_047298061

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	70,269,386 - 70,281,883 (+)	NCBI

RefSeq Acc Id:

XM_054327056 ⟹ XP_054183031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	68,702,705 - 68,715,201 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_004303	(Get FASTA)	NCBI Sequence Viewer
	XP_047298061	(Get FASTA)	NCBI Sequence Viewer
	XP_054183031	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB84302	(Get FASTA)	NCBI Sequence Viewer
	AAC27524	(Get FASTA)	NCBI Sequence Viewer
	AAC78395	(Get FASTA)	NCBI Sequence Viewer
	AAH12096	(Get FASTA)	NCBI Sequence Viewer
	ACG60645	(Get FASTA)	NCBI Sequence Viewer
	CAG33130	(Get FASTA)	NCBI Sequence Viewer
	EAX05348	(Get FASTA)	NCBI Sequence Viewer
	EAX05349	(Get FASTA)	NCBI Sequence Viewer
	EAX05350	(Get FASTA)	NCBI Sequence Viewer
	EAX05351	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000311538
	ENSP00000311538.8
	ENSP00000363619.3
	ENSP00000425505.1
GenBank Protein	P36575	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_004303 ⟸ NM_004312

- UniProtKB:

Q6IBF5 (UniProtKB/Swiss-Prot), Q5JT24 (UniProtKB/Swiss-Prot), Q5JT23 (UniProtKB/Swiss-Prot), B5B0B9 (UniProtKB/Swiss-Prot), Q96EN2 (UniProtKB/Swiss-Prot), P36575 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSKVFKKTSSNGKLSIYLGKRDFVDHVDTVEPIDGVVLVDPEYLKCRKLFVMLTCAFRYGRDDL
EVIGLTFRKDLYVQTLQVVPAESSSPQGPLTVLQERLLHKLGDNAYPFTLQMVTNLPCSVTLQP
GPEDAGKPCGIDFEVKSFCAENPEETVSKRDYVRLVVRKVQFAPPEAGPGPSAQTIRRFLLSAQ
PLQLQAWMDREVHYHGEPISVNVSINNCTNKVIKKIKISVDQITDVVLYSLDKYTKTVFIQEFT
ETVAANSSFSQSFAVTPILAASCQKRGLALDGKLKHEDTNLASSTIIRPGMDKELLGILVSYKV
RVNLMVSCGGILGDLTASDVGVELPLVLIHPKPSHEAASSEDIVIEEFTRKGEEESQKAVEAEG
DEGS

hide sequence

RefSeq Acc Id:

ENSP00000480426 ⟸ ENST00000620997

RefSeq Acc Id:

ENSP00000311538 ⟸ ENST00000307959

RefSeq Acc Id:

ENSP00000363619 ⟸ ENST00000374495

RefSeq Acc Id:

ENSP00000425505 ⟸ ENST00000480877

RefSeq Acc Id:	XP_047298061 ⟸ XM_047442105
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054183031 ⟸ XM_054327056
- Peptide Label:	isoform X1

Protein Domains

Arrestin-like N-terminal

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P36575-F1-model_v2	AlphaFold	P36575	1-388	view protein structure

Promoters

RGD ID:

13627367

Promoter ID:

EPDNEW_H28959

Type:

multiple initiation site

Name:

ARR3_1

Description:

arrestin 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	70,268,334 - 70,268,394	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:710	AgrOrtholog
COSMIC	ARR3	COSMIC
Ensembl Genes	ENSG00000120500	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000307959	ENTREZGENE
	ENST00000307959.9	UniProtKB/Swiss-Prot
	ENST00000374495.7	UniProtKB/Swiss-Prot
	ENST00000480877.6	UniProtKB/TrEMBL
Gene3D-CATH	2.60.40.640	UniProtKB/Swiss-Prot
	2.60.40.840	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000120500	GTEx
HGNC ID	HGNC:710	ENTREZGENE
Human Proteome Map	ARR3	Human Proteome Map
InterPro	Arrestin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Arrestin-like_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Arrestin_C	UniProtKB/Swiss-Prot
	Arrestin_C-like	UniProtKB/Swiss-Prot
	Arrestin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Arrestin_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ig_E-set	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:407	UniProtKB/Swiss-Prot
NCBI Gene	407	ENTREZGENE
OMIM	301770	OMIM
PANTHER	PTHR11792	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PTHR11792:SF19	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Arrestin_C	UniProtKB/Swiss-Prot
	Arrestin_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25004	PharmGKB
PRINTS	ARRESTIN	UniProtKB/Swiss-Prot
PROSITE	ARRESTINS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	Arrestin_C	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF81296	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	ARRC_HUMAN	UniProtKB/Swiss-Prot
	B5B0B9	ENTREZGENE
	D6RCT3_HUMAN	UniProtKB/TrEMBL
	P36575	ENTREZGENE
	Q5JT23	ENTREZGENE
	Q5JT24	ENTREZGENE
	Q6IBF5	ENTREZGENE
	Q96EN2	ENTREZGENE
UniProt Secondary	B5B0B9	UniProtKB/Swiss-Prot
	Q5JT23	UniProtKB/Swiss-Prot
	Q5JT24	UniProtKB/Swiss-Prot
	Q6IBF5	UniProtKB/Swiss-Prot
	Q96EN2	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-07-19	ARR3	arrestin 3		arrestin 3 retinal (X-arrestin)	Symbol and/or name change	5135510	APPROVED
2016-04-04	ARR3	arrestin 3 retinal (X-arrestin)		arrestin 3, retinal (X-arrestin)	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar

Send us a Message

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - PID (archival)

Imported Human Phenotype Annotations - HPO

Imported Human Phenotype Annotations - ClinVar