LONRF3 (LON peptidase N-terminal domain and ring finger 3)

Gene: LONRF3 (LON peptidase N-terminal domain and ring finger 3) Homo sapiens

Analyze

Symbol:

LONRF3

Name:

LON peptidase N-terminal domain and ring finger 3

RGD ID:

1351493

HGNC Page

HGNC:21152

Description:

Predicted to enable ubiquitin protein ligase activity. Predicted to be located in cytoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

FLJ22612; LON peptidase N-terminal domain and RING finger protein 3; MGC119463; MGC119465; ring finger protein 127; RNF127

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	118,974,614 - 119,018,355 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	118,974,614 - 119,018,355 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	118,108,577 - 118,152,318 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	117,992,741 - 118,035,978 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	117,890,462 - 117,933,829	NCBI
Celera	X	118,563,552 - 118,606,769 (+)	NCBI		Celera
Cytogenetic Map	X	q24	NCBI
HuRef	X	107,601,847 - 107,645,056 (+)	NCBI		HuRef
CHM1_1	X	118,019,598 - 118,062,840 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	117,352,354 - 117,396,078 (+)	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)

syndromic X-linked intellectual disability Cabezas type (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-schisandrin B (ISO)

17beta-estradiol (EXP)

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

4-hydroxyphenyl retinamide (ISO)

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

aflatoxin B1 (EXP,ISO)

alpha-Zearalanol (ISO)

amphetamine (ISO)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[b]fluoranthene (ISO)

bisphenol A (ISO)

bromobenzene (ISO)

buta-1,3-diene (ISO)

butanal (EXP)

carbon nanotube (ISO)

CGP 52608 (EXP)

chloroprene (ISO)

choline (ISO)

cisplatin (EXP)

cocaine (ISO)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

cyproconazole (ISO)

dibutyl phthalate (ISO)

dichloroacetic acid (ISO)

diquat (ISO)

dorsomorphin (EXP)

endosulfan (ISO)

entinostat (EXP)

epoxiconazole (ISO)

ethanol (ISO)

flutamide (ISO)

folic acid (ISO)

furan (ISO)

gentamycin (ISO)

graphene oxide (ISO)

Indeno[1,2,3-cd]pyrene (ISO)

isoprenaline (ISO)

L-methionine (ISO)

lead diacetate (ISO)

leflunomide (EXP)

mercury dichloride (ISO)

methylmercury chloride (EXP)

ozone (ISO)

p-chloromercuribenzoic acid (EXP)

paracetamol (ISO)

parathion (ISO)

perfluorohexanesulfonic acid (ISO)

perfluorooctanoic acid (ISO)

phenobarbital (EXP,ISO)

pirinixic acid (ISO)

propanal (EXP)

propiconazole (ISO)

resveratrol (EXP)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenate (ISO)

sodium arsenite (ISO)

sotorasib (EXP)

tetrachloromethane (ISO)

thioacetamide (ISO)

trametinib (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

trimellitic anhydride (ISO)

Triptolide (ISO)

triptonide (ISO)

valproic acid (EXP,ISO)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

cytoplasm (IEA)

Molecular Function

metal ion binding (IEA)

protein binding (IPI)

ubiquitin protein ligase activity (IBA,IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8744354	PMID:12477932	PMID:14702039	PMID:15489334	PMID:15761153	PMID:15772651	PMID:16344560	PMID:20195357	PMID:21873635	PMID:23414517	PMID:23898208	PMID:25416956
PMID:26186194	PMID:28514442	PMID:28986522	PMID:29507755	PMID:31343991	PMID:31536960	PMID:31753913	PMID:32296183	PMID:33961781	PMID:35944360	PMID:37499664

Genomics

Comparative Map Data

LONRF3
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	118,974,614 - 119,018,355 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	118,974,614 - 119,018,355 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	118,108,577 - 118,152,318 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	117,992,741 - 118,035,978 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	117,890,462 - 117,933,829	NCBI
Celera	X	118,563,552 - 118,606,769 (+)	NCBI		Celera
Cytogenetic Map	X	q24	NCBI
HuRef	X	107,601,847 - 107,645,056 (+)	NCBI		HuRef
CHM1_1	X	118,019,598 - 118,062,840 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	117,352,354 - 117,396,078 (+)	NCBI		T2T-CHM13v2.0

Lonrf3
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	35,592,011 - 35,630,510 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	35,592,006 - 35,625,994 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	36,328,358 - 36,366,857 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	36,328,353 - 36,362,341 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	33,868,404 - 33,906,851 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	32,759,854 - 32,798,301 (+)	NCBI		MGSCv36	mm8
Celera	X	23,057,065 - 23,095,512 (+)	NCBI		Celera
Cytogenetic Map	X	A3.3	NCBI
cM Map	X	20.72	NCBI

Lonrf3
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	120,430,975 - 120,469,648 (+)	NCBI		GRCr8
mRatBN7.2	X	115,565,214 - 115,603,886 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	115,565,267 - 115,598,809 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	117,666,080 - 117,699,622 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	121,235,236 - 121,268,768 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	118,781,366 - 118,814,905 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	122,937,987 - 122,973,289 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	122,938,009 - 122,973,321 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	123,088,000 - 123,121,296 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	8,567,873 - 8,601,662 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	114,799,529 - 114,833,063 (+)	NCBI		Celera
Cytogenetic Map	X	q34	NCBI

Lonrf3
(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_004955534	979,399 - 1,016,626 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955534	979,399 - 1,016,626 (-)	NCBI	ChiLan1.0	ChiLan1.0

LONRF3
(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	118,332,903 - 118,381,437 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	118,336,515 - 118,385,041 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	107,981,907 - 108,026,549 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	118,446,872 - 118,490,198 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	118,447,033 - 118,490,198 (+)	Ensembl	panpan1.1		panPan2

LONRF3
(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	91,105,938 - 91,146,468 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	91,106,496 - 91,141,790 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	77,180,108 - 77,220,266 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	92,844,627 - 92,884,791 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	92,844,813 - 92,884,410 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	90,297,738 - 90,337,893 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	92,056,439 - 92,096,577 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	91,784,878 - 91,825,040 (+)	NCBI		UU_Cfam_GSD_1.0

Lonrf3
(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	90,107,900 - 90,146,869 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936479	10,840,448 - 10,879,906 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936479	10,840,630 - 10,880,494 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

LONRF3
(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	97,494,328 - 97,534,185 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	97,494,305 - 97,547,813 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	114,089,552 - 114,141,833 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

LONRF3
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Vero_WHO_p1.0	NW_023666065	31,721,739 - 31,766,666 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Lonrf3
(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_004624895	2,926,556 - 2,965,198 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624895	2,926,646 - 2,969,821 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in LONRF3
25 total Variants

Clinical 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: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: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)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:10679-156013167)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-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 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
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 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	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-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: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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	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 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	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: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 Xq24(chrX:118469705-119051420)x3	copy number gain	See cases [RCV000054235]	ChrX:118469705..119051420 [GRCh38] ChrX:117603668..118185383 [GRCh37] ChrX:117487696..118069411 [NCBI36] ChrX:Xq24	uncertain significance
GRCh38/hg38 Xq24(chrX:118537419-119000684)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054243]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054243]\|See cases [RCV000054243]	ChrX:118537419..119000684 [GRCh38] ChrX:117671382..118134647 [GRCh37] ChrX:117555410..118018675 [NCBI36] ChrX:Xq24	uncertain significance
NM_001031855.2(LONRF3):c.1060-2421C>T	single nucleotide variant	Malignant melanoma [RCV000073053]	ChrX:118986987 [GRCh38] ChrX:118120950 [GRCh37] ChrX:118004978 [NCBI36] ChrX:Xq24	not provided
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: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: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: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 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	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 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	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 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	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 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	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-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 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	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 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
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 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	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 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	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 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
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-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 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
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 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	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 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	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 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 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	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:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] 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: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 Xq22.1-24(chrX:99931059-120328627)x1	copy number loss	Premature ovarian failure [RCV000225336]	ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24	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 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:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [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 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 Xp22.33-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:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001031855.3(LONRF3):c.569G>A (p.Arg190Gln)	single nucleotide variant	not specified [RCV004317802]	ChrX:118975349 [GRCh38] ChrX:118109312 [GRCh37] ChrX:Xq24	uncertain significance
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 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	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:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..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 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	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 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:168546-155196888)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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	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: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 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	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 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 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	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 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	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 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-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
NM_001031855.3(LONRF3):c.1749T>G (p.Ile583Met)	single nucleotide variant	not specified [RCV004307355]	ChrX:119011911 [GRCh38] ChrX:118145874 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	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
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	copy number gain	not provided [RCV000684377]	ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	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 Xq24(chrX:118053103-119334499)x2	copy number gain	not provided [RCV000753733]	ChrX:118053103..119334499 [GRCh37] ChrX:Xq24	uncertain significance
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 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	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
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-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
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
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 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	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
NM_001031855.3(LONRF3):c.613G>A (p.Ala205Thr)	single nucleotide variant	not specified [RCV004292323]	ChrX:118975393 [GRCh38] ChrX:118109356 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.2104G>A (p.Glu702Lys)	single nucleotide variant	not specified [RCV004286437]	ChrX:119014336 [GRCh38] ChrX:118148299 [GRCh37] ChrX:Xq24	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 Xq24-26.1(chrX:117119895-129850963)x2	copy number gain	not provided [RCV001007336]	ChrX:117119895..129850963 [GRCh37] ChrX:Xq24-26.1	pathogenic
GRCh37/hg19 Xq24-26.1(chrX:117120780-129850994)x3	copy number gain	not provided [RCV001259495]	ChrX:117120780..129850994 [GRCh37] ChrX:Xq24-26.1	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	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 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	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 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:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [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
NC_000023.10:g.(?_117629935)_(119761021_?)dup	duplication	not provided [RCV003109599]	ChrX:117629935..119761021 [GRCh37] ChrX:Xq24	uncertain significance
NC_000023.10:g.(?_117629935)_(119761021_?)del	deletion	X-linked intellectual disability Cabezas type [RCV003113287]	ChrX:117629935..119761021 [GRCh37] ChrX:Xq24	pathogenic
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 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_001031855.3(LONRF3):c.242G>A (p.Gly81Glu)	single nucleotide variant	not provided [RCV002291399]	ChrX:118975022 [GRCh38] ChrX:118108985 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	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
GRCh37/hg19 Xq24(chrX:117651370-118792490)x2	copy number gain	not provided [RCV002472458]	ChrX:117651370..118792490 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	copy number loss	not provided [RCV002474518]	ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24	pathogenic
GRCh37/hg19 Xq24(chrX:117953425-118198969)x2	copy number gain	not provided [RCV002474711]	ChrX:117953425..118198969 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1231A>G (p.Ser411Gly)	single nucleotide variant	not specified [RCV004148121]	ChrX:118989579 [GRCh38] ChrX:118123542 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.388A>G (p.Ser130Gly)	single nucleotide variant	not specified [RCV004216208]	ChrX:118975168 [GRCh38] ChrX:118109131 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.691G>A (p.Gly231Ser)	single nucleotide variant	not specified [RCV004162909]	ChrX:118975471 [GRCh38] ChrX:118109434 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1960A>G (p.Ile654Val)	single nucleotide variant	not specified [RCV004124492]	ChrX:119013187 [GRCh38] ChrX:118147150 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.298G>A (p.Val100Met)	single nucleotide variant	not specified [RCV004114824]	ChrX:118975078 [GRCh38] ChrX:118109041 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.115C>A (p.Pro39Thr)	single nucleotide variant	not specified [RCV004117609]	ChrX:118974895 [GRCh38] ChrX:118108858 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1241G>T (p.Gly414Val)	single nucleotide variant	not specified [RCV004235593]	ChrX:118989589 [GRCh38] ChrX:118123552 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.139G>T (p.Ala47Ser)	single nucleotide variant	not specified [RCV004132630]	ChrX:118974919 [GRCh38] ChrX:118108882 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1295C>T (p.Thr432Met)	single nucleotide variant	not specified [RCV004239254]	ChrX:118989643 [GRCh38] ChrX:118123606 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.2246G>A (p.Arg749Gln)	single nucleotide variant	not specified [RCV004281116]	ChrX:119017656 [GRCh38] ChrX:118151619 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.120G>T (p.Lys40Asn)	single nucleotide variant	not specified [RCV004340719]	ChrX:118974900 [GRCh38] ChrX:118108863 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.278T>C (p.Leu93Pro)	single nucleotide variant	not specified [RCV004352187]	ChrX:118975058 [GRCh38] ChrX:118109021 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.2267G>A (p.Arg756Gln)	single nucleotide variant	not specified [RCV004336865]	ChrX:119017677 [GRCh38] ChrX:118151640 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq24(chrX:117968938-118302994)x3	copy number gain	not provided [RCV003485313]	ChrX:117968938..118302994 [GRCh37] ChrX:Xq24	uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	pathogenic
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	copy number gain	not provided [RCV003483973]	ChrX:110921170..124327177 [GRCh37] ChrX:Xq23-25	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	copy number gain	not provided [RCV003485304]	ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24	pathogenic
NM_001031855.3(LONRF3):c.1060-2382C>T	single nucleotide variant	not provided [RCV003432457]	ChrX:118987026 [GRCh38] ChrX:118120989 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.39C>T (p.Pro13=)	single nucleotide variant	not provided [RCV003432456]\|not specified [RCV004364664]	ChrX:118974819 [GRCh38] ChrX:118108782 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.2025T>C (p.Tyr675=)	single nucleotide variant	not provided [RCV003432460]	ChrX:119014257 [GRCh38] ChrX:118148220 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.2220A>G (p.Leu740=)	single nucleotide variant	not provided [RCV003432461]	ChrX:119017630 [GRCh38] ChrX:118151593 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.1073T>C (p.Leu358Pro)	single nucleotide variant	not provided [RCV003432458]	ChrX:118989421 [GRCh38] ChrX:118123384 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.1299G>T (p.Gly433=)	single nucleotide variant	not provided [RCV003432459]	ChrX:118989647 [GRCh38] ChrX:118123610 [GRCh37] ChrX:Xq24	likely benign
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_001031855.3(LONRF3):c.68C>T (p.Ser23Leu)	single nucleotide variant	not specified [RCV004410385]	ChrX:118974848 [GRCh38] ChrX:118108811 [GRCh37] ChrX:Xq24	likely benign
NM_001031855.3(LONRF3):c.628C>G (p.Arg210Gly)	single nucleotide variant	not specified [RCV004410384]	ChrX:118975408 [GRCh38] ChrX:118109371 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.601G>C (p.Ala201Pro)	single nucleotide variant	not specified [RCV004410383]	ChrX:118975381 [GRCh38] ChrX:118109344 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.463G>T (p.Gly155Cys)	single nucleotide variant	not specified [RCV004410382]	ChrX:118975243 [GRCh38] ChrX:118109206 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.2223G>T (p.Lys741Asn)	single nucleotide variant	not specified [RCV004410381]	ChrX:119017633 [GRCh38] ChrX:118151596 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1946C>T (p.Ala649Val)	single nucleotide variant	not specified [RCV004410380]	ChrX:119013173 [GRCh38] ChrX:118147136 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.16A>G (p.Ile6Val)	single nucleotide variant	not specified [RCV004410379]	ChrX:118974796 [GRCh38] ChrX:118108759 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1664A>G (p.Asn555Ser)	single nucleotide variant	not specified [RCV004410378]	ChrX:119011826 [GRCh38] ChrX:118145789 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1618A>G (p.Lys540Glu)	single nucleotide variant	not specified [RCV004410377]	ChrX:119009213 [GRCh38] ChrX:118143176 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.140C>A (p.Ala47Glu)	single nucleotide variant	not specified [RCV004410376]	ChrX:118974920 [GRCh38] ChrX:118108883 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.1402G>A (p.Ala468Thr)	single nucleotide variant	not specified [RCV004410375]	ChrX:118990547 [GRCh38] ChrX:118124510 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.131A>T (p.Glu44Val)	single nucleotide variant	not specified [RCV004410374]	ChrX:118974911 [GRCh38] ChrX:118108874 [GRCh37] ChrX:Xq24	uncertain significance
NM_001031855.3(LONRF3):c.110C>T (p.Pro37Leu)	single nucleotide variant	not specified [RCV004410373]	ChrX:118974890 [GRCh38] ChrX:118108853 [GRCh37] ChrX:Xq24	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1315
Count of miRNA genes:	517
Interacting mature miRNAs:	602
Transcripts:	ENST00000304778, ENST00000371628, ENST00000422289, ENST00000439603, ENST00000472173, ENST00000481285
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.

Markers in Region

RNF127_2789

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	118,151,436 - 118,151,969	UniSTS	GRCh37
Build 36	X	118,035,464 - 118,035,997	RGD	NCBI36
Celera	X	118,606,255 - 118,606,788	RGD
HuRef	X	107,644,542 - 107,645,075	UniSTS

LONRF3

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	118,147,009 - 118,147,134	UniSTS	GRCh37
Celera	X	118,601,826 - 118,601,951	UniSTS
HuRef	X	107,640,113 - 107,640,238	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

443

156

124

545

122

Low

2351

2655

1265

555

1281

400

3712

1819

2574

332

1334

1007

166

1189

2573

Below cutoff

320

424

465

247

1079

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_012577	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001031855	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001289109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024778	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_110311	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005262476	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011531398	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029845	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442517	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047442519	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327872	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327873	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327874	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327875	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327876	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327877	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755724	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001755725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_938554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK026265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091777	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097641	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290198	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL772284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC098283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC099847	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC100671	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC103491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471161	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA249558	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000304778 ⟹ ENSP00000307732

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,974,614 - 119,018,355 (+)	Ensembl

RefSeq Acc Id:

ENST00000371628 ⟹ ENSP00000360690

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,974,618 - 119,018,355 (+)	Ensembl

RefSeq Acc Id:

ENST00000422289 ⟹ ENSP00000408894

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,976,332 - 119,018,355 (+)	Ensembl

RefSeq Acc Id:

ENST00000439603 ⟹ ENSP00000414519

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,975,362 - 119,017,987 (+)	Ensembl

RefSeq Acc Id:

ENST00000472173

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,976,332 - 119,017,983 (+)	Ensembl

RefSeq Acc Id:

ENST00000481285 ⟹ ENSP00000435426

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	118,974,618 - 119,017,983 (+)	Ensembl

RefSeq Acc Id:

NM_001031855 ⟹ NP_001027026

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,618 - 119,018,355 (+)	NCBI
GRCh37	X	118,108,577 - 118,152,816 (+)	NCBI
Build 36	X	117,992,741 - 118,035,978 (+)	NCBI Archive
Celera	X	118,563,552 - 118,606,769 (+)	RGD
HuRef	X	107,601,753 - 107,645,424 (+)	NCBI
CHM1_1	X	118,019,462 - 118,063,208 (+)	NCBI
T2T-CHM13v2.0	X	117,352,358 - 117,396,078 (+)	NCBI

Sequence:

show sequence

ATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTCGGTG
GCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCGGTCC
CTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGATGCT
GAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGCGGCC
CAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACGCGGG
AGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGCAGGC
AGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTCCGAG
CGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTCCCGC
AAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGGCGGC
GGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTGCCGG
AAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAACTGT
GCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCGCCTT
GATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCCGCTG
CGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCGTCGC
AACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCAAGTA
CAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGATTTAT
TTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGCCCGA
TGGGTTTTAAGGCACATTTCAGAAAAGCCCAAGCCTTAGCCACCCTAGGCAAGGTGGAGGAGGC
ACTAAGGGAGTTTCTCTACTGTGTATCCCTTGATGGAAAGAACAAGAGAGCAAGATGTGAAGCC
CAAAGAGACAATCTGGAGCTCCCACATTGTTCTAGTCAGGAGGAAGCAGCAGCCAGGGGAGATG
GCAGCAGTCTGATGGACCCAGCTAAAGTGAAGGGGGATGGTCAGCAGCACCACATGAAAGACCA
GGAAGAAGAGGAGGAGAAGTGGGATGCTACCTCTCCAAAAGCTGCTTCCAGCAAGACTGGAAAA
TGCCAGGAAAAGAAAAGGAAACATTGCCAGATTGAATCCCAAGAAGAAACGGGGATGCCTAATA
AAGCCTCCAAGCAAGATCCTCCCACTGATCAGGGGGACAAACCTGCTCTCAGTTTACCACTTGC
ATCTTTCGACGCATCTGACCTTGAATGCGCTCTATGTATGAGATTATTCTATGAGCCAGTCACA
ACACCTTGCGGGCATACTTTTTGCTTAAAATGCCTAGAAAGATGCCTAGATCACAACGCAAAGT
GTCCATTGTGCAAAGACGGTCTTTCACAGTGCTTGGCATCAAGAAAATACAGCAAAAATGTAAT
AATGGAGGAGCTCATAGCTAAATTCCTTCCAGAAGAACTGAAGGAACGAAGGAAGCTTTATGAA
GAGGAAATGGAAGAACTTTCTAACCTTAATAAGAATGTGCCTATTTTCGTGTGTACTATGGCCT
ATCCCACCGTTCCTTGTCCCCTGCACATCTTTGAGCCTTGTTACCGCCTGATGATTCGTAGATG
CATTGAGACAGGCACGAGACAGTTTGGCATGTGCCTTGGAGATCCTGTCAAAGGGTTTGCAGAA
TATGGCTGCATCCTAGAGATCAGAAATGTTCAATTCTTTGCTGATGGCCGCTCAGTGGTTGACA
GCATAGGCAAGAGGCGCTTCAGGGTGCTCCATCAGAGCCAGCGGGATGGCTACAACACAGCCGA
CATTGAATACATTGAAGACCAAAAGGTTCAGGGAGAGGATTGTGCTGAGCTCATGGGATTACAT
AACTGTGTCTATCAGCAAGCATCATTGTGGTTTCATTCGCTCAAATTATCCCTAAAGAATCGGA
TACTCAATCACTTTGGTCCCATGCCGGAGAAAGACGCCGATCCTCAGATGAACCCGAATGGCCC
AGCCTGGTGCTGGTGGATGTTAGCAGTTCTTCCCTTGGAAAGCCGAGCTCAGCTCCCCTTCCTA
GCAATGAGGTCCTTAAAGGACAGACTGAATGGTATTCGACGAGTCCTGGCCTTCATATCCCGAA
ACCAAAACTAGTGAGTGGATTGCCGAAGAGGAGCTCCCACCTTCCCCACTGCCGTCGGGGGGAG
TCTTCTTGTAAATATATCTAATTGCAATAATATCTTAACAGAAGGGGGTGTCAAACAGAGGCAT
CAGCCTGCTGTTGATCACAGAGAGAAATTGAGTAGAAAGACCAAAAGAATGTGACCTATTTGAA
ACTTTCTGTCTTAAGATGCTTCTTGACATGCTGCATAACTACATAAACAGCAGAGGTGTTTAAG
AGCCCAGAAAAACATAATTTGATTTTAACATTAAAATTTCCAAAAGTTTAAAGTGGTTTTGCTT
TAATATTCTTTCTTTCATAGATCAATGACTGTGTGGTTGAAATGTGAAAACAAAGATACTAATA
ATGTTGCTGTATAATTTCACTGACTTGAGGTCTCATTCCAAATGGTTCAGGTTTTATAGAGCAT
TGTGTAAAATAATGTTCATACTTCTTTCTGTTTTAATAATTTATTTTTTGCACTACTGTATCCT
TTTTTCTACATGTATGTTTGTAACTATTTAAGCGTACATTGCTGAAAAGTCCATTGCTTTATTT
ATTGATGTGGTTTACCATGTACCTAGGGGGAAATAACAATACTAGAAGTGTGCAGTTTTTGCTT
TTATCTTTTTTTTACTACAATGACACTAGTTCTTAG

hide sequence

RefSeq Acc Id:

NM_001289109 ⟹ NP_001276038

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,976,332 - 119,018,355 (+)	NCBI
HuRef	X	107,601,753 - 107,645,424 (+)	NCBI
CHM1_1	X	118,021,180 - 118,063,208 (+)	NCBI
T2T-CHM13v2.0	X	117,354,072 - 117,396,078 (+)	NCBI

Sequence:

show sequence

ATCCCACGAGCATGTGCGGGGGGAGGGGGAGCGCTTGCGCCCCGCTGCCCTGTGACTCATTGTC
ACCGCTTCCTATCACACGATCCTCGGCTGAAATAGATGCCCCCCCTTGCCCGCCCCGCCAACCC
GTAGCCTGTGCCCTCGCCTCCAACCCCTTTAACCTGGCCAGCCCGGCGGGAGGCCGGCGCGGCA
ACTGCTTGGGGATCCCTGGGGACCGTGGGCTGGCTACGAATGGGTCACGCCTCTGTCCCGCTTT
TCAGTGCCGCCTGGGAGGGTTGGGTGGGCTTTGCAGCTTCAAGGGTAACGTGGGCAGTCCCCCA
TCTCCAGCTAGACTAGGGCACCCGAATTTCCCCAGGGAGCCGCTCTCTGACCCACCACGCCTGG
ACCCAGGAAGTGGCTGCTGAGCCGCCAGCCGGTGTTGCCCAGCTCTGGCAGTTTGCCAGGAGCT
CGGCCGTGGGGCGCGGTGTCTGGCGAAGCATGCCGGGGAGGAGGCAGCAGGGCTGGGCAGGCAG
GGCCCTGGGATCCGAGGGTGTCCTGGACCTGACTCTGTGGAGTGGAGGAGGGGTGTGGGCCGGA
GTCTCCACGTGTTTAATCTCCACTCAAGCTTGCAACAGCTCCAAATGACCACTTGCTTTATAGC
AATCGGTCTCAGATTTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAG
CATGTAAGCTCCGCCCGATGGGTTTTAAGGCACATTTCAGAAAAGCCCAAGCCTTAGCCACCCT
AGGCAAGGTGGAGGAGGCACTAAGGGAGTTTCTCTACTGTGTATCCCTTGATGGAAAGAACAAG
AGAGCAAGATGTGAAGCCCAAAGACTTCTCCTTAGTTTCTTTTCACCATCAGTCCCGGGGGATT
CTCAGGAACATTCTCCCGATATCCTGAAGCTGTTGGCACCTCACCCTAGATTAAAGGAAAACGT
AGAGTCAATGACTACTGAAGTTACCAGCCATAATCTACCAAGGTTGTTACAGGACAATCTGGAG
CTCCCACATTGTTCTAGTCAGGAGGAAGCAGCAGCCAGGGGAGATGGCAGCAGTCTGATGGACC
CAGCTAAAGTGAAGGGGGATGGTCAGCAGCACCACATGAAAGACCAGGAAGAAGAGGAGGAGAA
GTGGGATGCTACCTCTCCAAAAGCTGCTTCCAGCAAGACTGGAAAATGCCAGGAAAAGAAAAGG
AAACATTGCCAGATTGAATCCCAAGAAGAAACGGGGATGCCTAATAAAGCCTCCAAGCAAGATC
CTCCCACTGATCAGGGGGACAAACCTGCTCTCAGTTTACCACTTGCATCTTTCGACGCATCTGA
CCTTGAATGCGCTCTATGTATGAGATTATTCTATGAGCCAGTCACAACACCTTGCGGGCATACT
TTTTGCTTAAAATGCCTAGAAAGATGCCTAGATCACAACGCAAAGTGTCCATTGTGCAAAGACG
GTCTTTCACAGTGCTTGGCATCAAGAAAATACAGCAAAAATGTAATAATGGAGGAGCTCATAGC
TAAATTCCTTCCAGAAGAACTGAAGGAACGAAGGAAGCTTTATGAAGAGGAAATGGAAGAACTT
TCTAACCTTAATAAGAATGTGCCTATTTTCGTGTGTACTATGGCCTATCCCACCGTTCCTTGTC
CCCTGCACATCTTTGAGCCTTGTTACCGCCTGATGATTCGTAGATGCATTGAGACAGGCACGAG
ACAGTTTGGCATGTGCCTTGGAGATCCTGTCAAAGGGTTTGCAGAATATGGCTGCATCCTAGAG
ATCAGAAATGTTCAATTCTTTGCTGATGGCCGCTCAGTGGTTGACAGCATAGGCAAGAGGCGCT
TCAGGGTGCTCCATCAGAGCCAGCGGGATGGCTACAACACAGCCGACATTGAATACATTGAAGA
CCAAAAGGTTCAGGGAGAGGATTGTGCTGAGCTCATGGGATTACATAACTGTGTCTATCAGCAA
GCATCATTGTGGTTTCATTCGCTCAAATTATCCCTAAAGAATCGGATACTCAATCACTTTGGTC
CCATGCCGGAGAAAGACGCCGATCCTCAGATGAACCCGAATGGCCCAGCCTGGTGCTGGTGGAT
GTTAGCAGTTCTTCCCTTGGAAAGCCGAGCTCAGCTCCCCTTCCTAGCAATGAGGTCCTTAAAG
GACAGACTGAATGGTATTCGACGAGTCCTGGCCTTCATATCCCGAAACCAAAACTAGTGAGTGG
ATTGCCGAAGAGGAGCTCCCACCTTCCCCACTGCCGTCGGGGGGAGTCTTCTTGTAAATATATC
TAATTGCAATAATATCTTAACAGAAGGGGGTGTCAAACAGAGGCATCAGCCTGCTGTTGATCAC
AGAGAGAAATTGAGTAGAAAGACCAAAAGAATGTGACCTATTTGAAACTTTCTGTCTTAAGATG
CTTCTTGACATGCTGCATAACTACATAAACAGCAGAGGTGTTTAAGAGCCCAGAAAAACATAAT
TTGATTTTAACATTAAAATTTCCAAAAGTTTAAAGTGGTTTTGCTTTAATATTCTTTCTTTCAT
AGATCAATGACTGTGTGGTTGAAATGTGAAAACAAAGATACTAATAATGTTGCTGTATAATTTC
ACTGACTTGAGGTCTCATTCCAAATGGTTCAGGTTTTATAGAGCATTGTGTAAAATAATGTTCA
TACTTCTTTCTGTTTTAATAATTTATTTTTTGCACTACTGTATCCTTTTTTCTACATGTATGTT
TGTAACTATTTAAGCGTACATTGCTGAAAAGTCCATTGCTTTATTTATTGATGTGGTTTACCAT
GTACCTAGGGGGAAATAACAATACTAGAAGTGTGCAGTTTTTGCTTTTATCTTTTTTTTACTAC
AATGACACTAGTTCTTAG

hide sequence

RefSeq Acc Id:

NM_024778 ⟹ NP_079054

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,018,355 (+)	NCBI
GRCh37	X	118,108,577 - 118,152,816 (+)	NCBI
Build 36	X	117,992,741 - 118,035,978 (+)	NCBI Archive
Celera	X	118,563,552 - 118,606,769 (+)	RGD
HuRef	X	107,601,753 - 107,645,424 (+)	NCBI
CHM1_1	X	118,019,462 - 118,063,208 (+)	NCBI
T2T-CHM13v2.0	X	117,352,354 - 117,396,078 (+)	NCBI

Sequence:

show sequence

AGTTATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTC
GGTGGCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCG
GTCCCTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGA
TGCTGAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGC
GGCCCAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACG
CGGGAGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGC
AGGCAGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTC
CGAGCGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTC
CCGCAAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGG
CGGCGGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTG
CCGGAAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAA
CTGTGCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCG
CCTTGATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCC
GCTGCGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCG
TCGCAACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCA
AGTACAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGAT
TTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGC
CCGATGGGTTTTAAGGACAATCTGGAGCTCCCACATTGTTCTAGTCAGGAGGAAGCAGCAGCCA
GGGGAGATGGCAGCAGTCTGATGGACCCAGCTAAAGTGAAGGGGGATGGTCAGCAGCACCACAT
GAAAGACCAGGAAGAAGAGGAGGAGAAGTGGGATGCTACCTCTCCAAAAGCTGCTTCCAGCAAG
ACTGGAAAATGCCAGGAAAAGAAAAGGAAACATTGCCAGATTGAATCCCAAGAAGAAACGGGGA
TGCCTAATAAAGCCTCCAAGCAAGATCCTCCCACTGATCAGGGGGACAAACCTGCTCTCAGTTT
ACCACTTGCATCTTTCGACGCATCTGACCTTGAATGCGCTCTATGTATGAGATTATTCTATGAG
CCAGTCACAACACCTTGCGGGCATACTTTTTGCTTAAAATGCCTAGAAAGATGCCTAGATCACA
ACGCAAAGTGTCCATTGTGCAAAGACGGTCTTTCACAGTGCTTGGCATCAAGAAAATACAGCAA
AAATGTAATAATGGAGGAGCTCATAGCTAAATTCCTTCCAGAAGAACTGAAGGAACGAAGGAAG
CTTTATGAAGAGGAAATGGAAGAACTTTCTAACCTTAATAAGAATGTGCCTATTTTCGTGTGTA
CTATGGCCTATCCCACCGTTCCTTGTCCCCTGCACATCTTTGAGCCTTGTTACCGCCTGATGAT
TCGTAGATGCATTGAGACAGGCACGAGACAGTTTGGCATGTGCCTTGGAGATCCTGTCAAAGGG
TTTGCAGAATATGGCTGCATCCTAGAGATCAGAAATGTTCAATTCTTTGCTGATGGCCGCTCAG
TGGTTGACAGCATAGGCAAGAGGCGCTTCAGGGTGCTCCATCAGAGCCAGCGGGATGGCTACAA
CACAGCCGACATTGAATACATTGAAGACCAAAAGGTTCAGGGAGAGGATTGTGCTGAGCTCATG
GGATTACATAACTGTGTCTATCAGCAAGCATCATTGTGGTTTCATTCGCTCAAATTATCCCTAA
AGAATCGGATACTCAATCACTTTGGTCCCATGCCGGAGAAAGACGCCGATCCTCAGATGAACCC
GAATGGCCCAGCCTGGTGCTGGTGGATGTTAGCAGTTCTTCCCTTGGAAAGCCGAGCTCAGCTC
CCCTTCCTAGCAATGAGGTCCTTAAAGGACAGACTGAATGGTATTCGACGAGTCCTGGCCTTCA
TATCCCGAAACCAAAACTAGTGAGTGGATTGCCGAAGAGGAGCTCCCACCTTCCCCACTGCCGT
CGGGGGGAGTCTTCTTGTAAATATATCTAATTGCAATAATATCTTAACAGAAGGGGGTGTCAAA
CAGAGGCATCAGCCTGCTGTTGATCACAGAGAGAAATTGAGTAGAAAGACCAAAAGAATGTGAC
CTATTTGAAACTTTCTGTCTTAAGATGCTTCTTGACATGCTGCATAACTACATAAACAGCAGAG
GTGTTTAAGAGCCCAGAAAAACATAATTTGATTTTAACATTAAAATTTCCAAAAGTTTAAAGTG
GTTTTGCTTTAATATTCTTTCTTTCATAGATCAATGACTGTGTGGTTGAAATGTGAAAACAAAG
ATACTAATAATGTTGCTGTATAATTTCACTGACTTGAGGTCTCATTCCAAATGGTTCAGGTTTT
ATAGAGCATTGTGTAAAATAATGTTCATACTTCTTTCTGTTTTAATAATTTATTTTTTGCACTA
CTGTATCCTTTTTTCTACATGTATGTTTGTAACTATTTAAGCGTACATTGCTGAAAAGTCCATT
GCTTTATTTATTGATGTGGTTTACCATGTACCTAGGGGGAAATAACAATACTAGAAGTGTGCAG
TTTTTGCTTTTATCTTTTTTTTACTACAATGACACTAGTTCTTAG

hide sequence

RefSeq Acc Id:

NR_110311

RefSeq Status:

REVIEWED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,018,355 (+)	NCBI
HuRef	X	107,601,753 - 107,645,424 (+)	NCBI
CHM1_1	X	118,019,462 - 118,063,208 (+)	NCBI
T2T-CHM13v2.0	X	117,352,354 - 117,396,078 (+)	NCBI

Sequence:

show sequence

AGTTATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTC
GGTGGCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCG
GTCCCTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGA
TGCTGAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGC
GGCCCAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACG
CGGGAGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGC
AGGCAGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTC
CGAGCGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTC
CCGCAAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGG
CGGCGGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTG
CCGGAAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAA
CTGTGCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCG
CCTTGATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCC
GCTGCGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCG
TCGCAACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCA
AGTACAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGAT
TTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGC
CCGATGGGTTTTAAGGCACATTTCAGAAAAGCCCAAGCCTTAGCCACCCTAGGCAAGGTGGAGG
AGGCACTAAGGGAGTTTCTCTACTGTGTATCCCTTGATGGAAAGAACAAGAGAGCAAGATGTGA
AGCCCAAAGAGACAATCTGGAGCTCCCACATTGTTCTAGTCAGGAGGAAGCAGCAGCCAGGGGA
GATGGCAGCAGTCTGATGGACCCAGCTAAAGTGAAGGGGGATGGTCAGCAGCACCACATGAAAG
ACCAGGAAGAAGAGGAGGAGAAGTGGGATGCTACCTCTCCAAAAGCTGCTTCCAGCAAGACTGG
AAAATGCCAGGAAAAGAAAAGGAAACATTGCCAGATTGAATCCCAAGAAGAAACGGGGATGCCT
AATAAAGCCTCCAAGCAAGATCCTCCCACTGATCAGGGGGACAAACCTGCTCTCAGTTTACCAC
TTGCATCTTTCGACGCATCTGACCTTGAATGCGCTCTATGTATGAGATTATTCTATGAGCCAGT
CACAACACCTTGCGGGCATACTTTTTGCTTAAAATGCCTAGAAAGATGCCTAGATCACAACGCA
AAGTGTCCATTGTGCAAAGACGGTCTTTCACAGTGCTTGGCATCAAGAAAATACAGCAAAAATG
TAATAATGGAGGAGCTCATAGCTAAATTCCTTCCAGAAGAACTGAAGGAACGAAGGAAGCTTTA
TGAAGAGGAAATGGAAGAACTTTCTAACCTTAATAAGAATGTGCCTATTTTCGTGTGTACTATG
GCCTATCCCACCGTTCCTTGTCCCCTGCACATCTTTGAGCCTTGTTACCGCCTGATGATTCGTA
GATGCATTGAGACAGGCACGAGACAGTTTGGCATGTGCCTTGGAGATCCTGTCAAAGGGCACTG
CCTGTTGTGTAATTGAAGCTGTAACCCAGGGACAGGAAAATAGGCAGAAGTCCCTTGAGCCACA
GCATGGGGCTACAGAAATGGCTGGGTGCCAGCCCAGGGAAACAGAACTCATCAAGGATCTAGTC
TCTCGACTCCATTCTCAATAAACAGGTTTGCAGAATATGGCTGCATCCTAGAGATCAGAAATGT
TCAATTCTTTGCTGATGGCCGCTCAGTGGTTGACAGCATAGGCAAGAGGCGCTTCAGGGTGCTC
CATCAGAGCCAGCGGGATGGCTACAACACAGCCGACATTGAATACATTGAAGACCAAAAGGTTC
AGGGAGAGGATTGTGCTGAGCTCATGGGATTACATAACTGTGTCTATCAGCAAGCATCATTGTG
GTTTCATTCGCTCAAATTATCCCTAAAGAATCGGATACTCAATCACTTTGGTCCCATGCCGGAG
AAAGACGCCGATCCTCAGATGAACCCGAATGGCCCAGCCTGGTGCTGGTGGATGTTAGCAGTTC
TTCCCTTGGAAAGCCGAGCTCAGCTCCCCTTCCTAGCAATGAGGTCCTTAAAGGACAGACTGAA
TGGTATTCGACGAGTCCTGGCCTTCATATCCCGAAACCAAAACTAGTGAGTGGATTGCCGAAGA
GGAGCTCCCACCTTCCCCACTGCCGTCGGGGGGAGTCTTCTTGTAAATATATCTAATTGCAATA
ATATCTTAACAGAAGGGGGTGTCAAACAGAGGCATCAGCCTGCTGTTGATCACAGAGAGAAATT
GAGTAGAAAGACCAAAAGAATGTGACCTATTTGAAACTTTCTGTCTTAAGATGCTTCTTGACAT
GCTGCATAACTACATAAACAGCAGAGGTGTTTAAGAGCCCAGAAAAACATAATTTGATTTTAAC
ATTAAAATTTCCAAAAGTTTAAAGTGGTTTTGCTTTAATATTCTTTCTTTCATAGATCAATGAC
TGTGTGGTTGAAATGTGAAAACAAAGATACTAATAATGTTGCTGTATAATTTCACTGACTTGAG
GTCTCATTCCAAATGGTTCAGGTTTTATAGAGCATTGTGTAAAATAATGTTCATACTTCTTTCT
GTTTTAATAATTTATTTTTTGCACTACTGTATCCTTTTTTCTACATGTATGTTTGTAACTATTT
AAGCGTACATTGCTGAAAAGTCCATTGCTTTATTTATTGATGTGGTTTACCATGTACCTAGGGG
GAAATAACAATACTAGAAGTGTGCAGTTTTTGCTTTTATCTTTTTTTTACTACAATGACACTAG
TTCTTAG

hide sequence

RefSeq Acc Id:

XM_005262476 ⟹ XP_005262533

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,018,355 (+)	NCBI
GRCh37	X	118,108,577 - 118,152,816 (+)	NCBI

Sequence:

show sequence

AGTTATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTC
GGTGGCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCG
GTCCCTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGA
TGCTGAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGC
GGCCCAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACG
CGGGAGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGC
AGGCAGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTC
CGAGCGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTC
CCGCAAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGG
CGGCGGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTG
CCGGAAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAA
CTGTGCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCG
CCTTGATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCC
GCTGCGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCG
TCGCAACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCA
AGTACAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGAT
TTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGC
CCGATGGGTTTTAAGGCACATTTCAGAAAAGCCCAAGCCTTAGCCACCCTAGGCAAGGTGGAGG
AGGCACTAAGGGAGTTTCTCTACTGTGTATCCCTTGATGGAAAGAACAAGAGAGCAAGATGTGA
AGCCCAAAGACTTCTCCTTAGTTTCTTTTCACCATCAGTCCCGGGGGATTCTCAGGAACATTCT
CCCGATATCCTGAAGCTGTTGGCACCTCACCCTAGATTAAAGGAAAACGTAGAGTCAATGACTA
CTGAAGTTACCAGCCATAATCTACCAAGGTTGTTACAGGACAATCTGGAGCTCCCACATTGTTC
TAGTCAGGAGGAAGCAGCAGCCAGGGGAGATGGCAGCAGTCTGATGGACCCAGCTAAAGTGAAG
GGGGATGGTCAGCAGCACCACATGAAAGACCAGGAAGAAGAGGAGGAGAAGTGGGATGCTACCT
CTCCAAAAGCTGCTTCCAGCAAGACTGGAAAATGCCAGGAAAAGAAAAGGAAACATTGCCAGAT
TGAATCCCAAGAAGAAACGGGGATGCCTAATAAAGCCTCCAAGCAAGATCCTCCCACTGATCAG
GGGGACAAACCTGCTCTCAGTTTACCACTTGCATCTTTCGACGCATCTGACCTTGAATGCGCTC
TATGTATGAGATTATTCTATGAGCCAGTCACAACACCTTGCGGGCATACTTTTTGCTTAAAATG
CCTAGAAAGATGCCTAGATCACAACGCAAAGTGTCCATTGTGCAAAGACGGTCTTTCACAGTGC
TTGGCATCAAGAAAATACAGCAAAAATGTAATAATGGAGGAGCTCATAGCTAAATTCCTTCCAG
AAGAACTGAAGGAACGAAGGAAGCTTTATGAAGAGGAAATGGAAGAACTTTCTAACCTTAATAA
GAATGTGCCTATTTTCGTGTGTACTATGGCCTATCCCACCGTTCCTTGTCCCCTGCACATCTTT
GAGCCTTGTTACCGCCTGATGATTCGTAGATGCATTGAGACAGGCACGAGACAGTTTGGCATGT
GCCTTGGAGATCCTGTCAAAGGGTTTGCAGAATATGGCTGCATCCTAGAGATCAGAAATGTTCA
ATTCTTTGCTGATGGCCGCTCAGTGGTTGACAGCATAGGCAAGAGGCGCTTCAGGGTGCTCCAT
CAGAGCCAGCGGGATGGCTACAACACAGCCGACATTGAATACATTGAAGACCAAAAGGTTCAGG
GAGAGGATTGTGCTGAGCTCATGGGATTACATAACTGTGTCTATCAGCAAGCATCATTGTGGTT
TCATTCGCTCAAATTATCCCTAAAGAATCGGATACTCAATCACTTTGGTCCCATGCCGGAGAAA
GACGCCGATCCTCAGATGAACCCGAATGGCCCAGCCTGGTGCTGGTGGATGTTAGCAGTTCTTC
CCTTGGAAAGCCGAGCTCAGCTCCCCTTCCTAGCAATGAGGTCCTTAAAGGACAGACTGAATGG
TATTCGACGAGTCCTGGCCTTCATATCCCGAAACCAAAACTAGTGAGTGGATTGCCGAAGAGGA
GCTCCCACCTTCCCCACTGCCGTCGGGGGGAGTCTTCTTGTAAATATATCTAATTGCAATAATA
TCTTAACAGAAGGGGGTGTCAAACAGAGGCATCAGCCTGCTGTTGATCACAGAGAGAAATTGAG
TAGAAAGACCAAAAGAATGTGACCTATTTGAAACTTTCTGTCTTAAGATGCTTCTTGACATGCT
GCATAACTACATAAACAGCAGAGGTGTTTAAGAGCCCAGAAAAACATAATTTGATTTTAACATT
AAAATTTCCAAAAGTTTAAAGTGGTTTTGCTTTAATATTCTTTCTTTCATAGATCAATGACTGT
GTGGTTGAAATGTGAAAACAAAGATACTAATAATGTTGCTGTATAATTTCACTGACTTGAGGTC
TCATTCCAAATGGTTCAGGTTTTATAGAGCATTGTGTAAAATAATGTTCATACTTCTTTCTGTT
TTAATAATTTATTTTTTGCACTACTGTATCCTTTTTTCTACATGTATGTTTGTAACTATTTAAG
CGTACATTGCTGAAAAGTCCATTGCTTTATTTATTGATGTGGTTTACCATGTACCTAGGGGGAA
ATAACAATACTAGAAGTGTGCAGTTTTTGCTTTTATCTTTTTTTTACTACAATGACACTAGTTC
TTAGACCATTTCCGTATCTATCCAAATGGATGCTTAAAAGAAGTTCAGAATGATGCTAAGATCA
TCTGTCTTCAGAGTCCACTTTTTTTTTTCAGTTTGAACTAAACAATATAAAATACTTAAGGGAT
TTGGCCTAGATTATGGTATATGCCAAGGTAAAGTAAAATAATTCATTTTCTGTGTGTAATACAG
AACAAAGCTGAAAGAATTATTTTTATTATAGGCATTTACTTCAGCAATCTAATTGTACGTGTAT
CTAATTTTTCCCCAGTGCAGTTAGGAATCGGATTTTGGGCAGGATCATAATTAACTCTTCAGAG
GAAATGGTGTTCAGTTTAGCACATCACAGTCATGCCCAACTAGCCTCCATAACCCACCTCTCCC
CGGGGTTCTGAGGATCAAGACCTGGACAGAAACACTTGATAAGGACTTTTTATTATTAAAATGT
AAATAAGACAAATAGAGTAGAACCCTATAAAAATCTTTTTAAAGGAACCAGATGGCCGGGCACG
GTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGGTCAGG
AGTTCGAGAGCAGCCTAACTAACATGATGAAACCCTGTCTCTACTAAAAATGGATACAAAATTA
GCCAGGCTTGGTGGTGTATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACA
TGAACCTGGGAGATGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAGCCTGGGCAAC
GAGCAAACCTGCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAGGGAACCAGATAATCTATTATT
TTACCTAAGTACTGCCTTTGCTTCTAGTTGCATGGGTGAAATATTTCAATGTATGGGGAGAATA
TAGGGTGAGGAGTAAGAGTAAGCCCTGATTTAGCTTGCTTAGTGCTAGTTTGAGTCCTTCAGTG
GCAGGACAGCCTGTAAAGTACCACAAGTATGGGAGTGTTATAATGGCAGAGTGAAACGATTAGA
GCAGGGAGGAAGTGAATTGTGCCATTAGTACCTTCATGCAAATTATACCATGTGATTTTGGACA
GTGAATGATTTTTGCATCATTCATTCACAGCCCATCACTCTGTTAAGGTGAGAGTGTAATTCTT
ACTTCTCCCATCACCACCTGTAGCTAGAAACAGGAAAGGGAGAATGAGATGATCCAGACAACAT
AAAAAAGATGCATGTAAGCAGAAACCAGATGGTCTTTTCTGCACTCACTTAATGGACATTATGT
TGCCAGAGTGTTGTGTTTATCAGATTTGATGTTTGGAGCTAGTCTGGGCAGGTGAAGAACAGAA
ATAGGCGGAAGTATAGGCATTATTTCTGCGCAAGCAAACTCCACAAAGCTCAGGGAGCAGAAAA
GACTCCCCCTCCCACCTGGTTCCCAGACCATGTGGTCATAACACAATCCTAATAGTTTCTGGTT
ATCTAGTGTAAATGCAACAAAGAAAAAGGCCCTAAGCTTCTCTACTTATTAGATATATTATTTT
TGGCAATTGATTTAACTTTTGCCAACCCTCAGTTTTCTAATCTATGAAATGATAGTGATAAGTT
CTGCATATAGGGTTGTTACGAAAATTAAATGAGATAATGTGTAAATCAATTAGCACAGTGTCTC
ACACCTAGAATGCACTCAAGAAATAATAGCTACTATTAGATTAGTCATAGTTATAGAATATCAT
CAAGGGCCTACATTTGTATAAAACACTGCCTTTACACACAATATCCACTTGAAACCCCTTTAAA
CTTAGTTGGGGGAATACATACCACTGATTTTTGGACCCATAATTTGATGATTTACAGATAATTC
TTTTGGGAATTAAATGTGTGTGAAAGTGAAATAACTGGAGAACAAATGAGGGTCAGAGATAGGG
ATCAATCCTATACCAGAAATTTTTTTCCTGCTTCAATAAGGGCTAGAAGGTAGTGCCCTATGTA
GGTCTAGGATTTCTTTCTTCCTTCCTTCCTTCCTTTCTTTTTCTTTTGTTCCCTCCCTCCCTCC
CTCTCTCTCTCTTTCCCTCCCTTCCTTCCTTCCTTTCTTTTTCCTTTCCTTTCCTTTCCTTTCT
TTCTTTTGTGTGTGTGTGTGTGTGTGCGAGTCTGAGTCTCACTCTGTCACCCAGGCTGGAGTGC
AGTGGCTCGATCTCAGTTCACTGCAACCTCCGCCTCCCAGGTTCAAGTGATTCCCTTGTCTCAG
CCCCCCAAGTAGCTGGGATTACAGGCACGCACCACCACGCCTGGCTAATTTTTGTAGTTTTAGT
AGAGATGGGGTTTCACCATGTTGGTCAAGCTAGTCTCGAACTCCTGACCTCAGGTGATCCATCT
GCCTGGGCCTCCCAAAGTGCTGGGATTACGGGCGTGGGTGTGAGCCACCGCACCCAGCCTAGGA
TTTCTGATAGAATGGAAGCCTTAAGTTCTAGCTCCATTAGAATAACCAACTTTTCACTCCCTGT
TCTCCAAAATGTATTGAGAACCTTACCCATCCCAGATGATGAGAGTTTACAATCTGTGACTTCT
GTTCTTAGTTGATAGTATTTCTTTATGTTGCCCAAAGTAACAGATTCAACAAAAAATGTACTGA
GATCCCCATGTACCAGGTACTGAGCCAAGTGATCTCACATACCTGAGCTCATTACATCATTTAT
TTCTCATACCAACCCTGCGAGAGCAGTTATTATCCCCATATTATGAATGAGAAAACTGAGCCTC
CACTATGTTAAATATTTTGTCTAGTTGCAAGGCAGGATGCAAGGCTAAGCTTTGGCTTTCTTTG
GGATGTACCTTAACGAGGTAATCAATTGGTCTTGAACATTTTTACACTGGGAAATTGGTTTTGC
TGCACAGCTTGGGAATGAAGGGTATACAGAAGAAAGACATAAGGCTAAATCTAGGCCAGAAAAA
TAAGACTTCCCCCACAGTAGATAGTGCCACTTATTTAGTTAGTTTTTCTGTCTATCATGACTGA
CCCAGTCTTTGCCTAGTAGGTTATATTTTGTATGTATGTATGTATGTATGTATGTCTTTGTGTG
TGTATGTGTGTGTGTGTATGTGTGTGTGTATATATATATATATATATATATATATATATATATA
TATATACACTAGGTAGCAAGCAGACATCATATCTTTCTGCTTTGTACTGTACTACTGCTGCTAG
CAAATAACCAGCAAAATGTAGAAAATGAAAAACCAATTTTCTGTAGACAACCTGGAGAAAAGAG
TGCCTGCCCCTGACTTAGCGGGGCAGAGAATGACAATTTTTAAAGTTTGCCTTTTCTGAAGGTT
GCTTTTAGCCCAGTGCTGCCTCAGCAGCAAGGGGCAAGCAGAGTCATTGCGCATGTGGCGCTTC
CAGCTCTACCTGTGGAGCTGGCCTGGGCTCAGATAATCCCCTGTGACTGGCCATTGGAGCGGCG
GAGCTCCTGAGGCTAGTTCACAGCACCCAGAGGTCTCTTACAGTCAACAGATTGCATACTGTTG
ACAGACTGCAATCCGTCTGTGTTCCCCACACCAACTCCATTTCCAAGATGGGAATTTTATTCAG
GAACTCATTTTTGAGTTCCCAACATGTTGACTTCGCATCCATTTCTGCTCACCAAGGCAGAACC
ATAGCAGTGGTGTGTGACAAAGATGCAAATGGAGGGCAGCCCAAACAATGGAAAAGAGAAGATT
TTCAGCCCATTCTTGGGGCTAAGTGAGGTTTTGATTTATGGTAGAAGACAGTTCTAAAAAGCAG
CTGGCAGCATGGGCTTCAATTTGTGGCCCTTCTGAGTTCAAACAGAAGGAAGGAAAAGGAGCCA
CATAAAGTGTACACATTCAATTCATCTTAGAATGATAGCTCCCACCTTATTACACTGTACAACT
ATTTAATAATCTGGGTTACACACATCCAGAGGTGAAATAAAGAAATTTTCACTTACAAATGTGT
ATTTCCAAACATGCTAAGTTAACCTCCAGAGAGAAGTGCCTGTAATCTCTGTTCCTGGTGTCAC
TTTAAAGCTTTTGCTTCATGACTGTAGCTGTTGTTTAAAATGTTTTTGCAGCAAACGCGATTTA
ACAGAAGTTTACAAAGCAACACTGTAGCTAATGCATAATTTTAAAAGTTGACTAACATTTATCT
ATTGTTAAAGCAACACTAATAATGGAATAAAAGGAAAGCAAATAGGCCAATGTGGCACCATAGG
CTTATTTTAGGTAAATTAGTTCCATCATCTTATGCAGTTGTAAGTAATGCCAGGATTAAAATAT
CAAGCAAGCCACGTAAACAGTGGCAAATGTGTGTGTGTTTTCCATTTGTTTGGTAAGCAGCCAT
TTTACTCTTGCACTGTAATGAACTGAAGGGAAATATAAGATAATGCTTTTTTCCCCCCATATTG
CTATTCAACTACCTCTATATGCTTGATTTCTTTTTAGGATTCCCATCCTCCAAATCTGTACAAA
AACGTTTCAGCTCATCTGTGTTGTAATAACAATGTGATACAGACAGTTTGTGTGAAAGTTGTTT
GTTCATTAAAAAATGTTTCCTATTGCCTCA

hide sequence

RefSeq Acc Id:

XM_011531398 ⟹ XP_011529700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,013,031 (+)	NCBI

Sequence:

show sequence

AGTTATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTC
GGTGGCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCG
GTCCCTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGA
TGCTGAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGC
GGCCCAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACG
CGGGAGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGC
AGGCAGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTC
CGAGCGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTC
CCGCAAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGG
CGGCGGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTG
CCGGAAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAA
CTGTGCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCG
CCTTGATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCC
GCTGCGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCG
TCGCAACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCA
AGTACAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGAT
TTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGC
CCGATGGGTTTTAAGGCACATTTCAGAAAAGCCCAAGCCTTAGCCACCCTAGGCAAGGTGGAGG
AGGCACTAAGGGAGTTTCTCTACTGTGTATCCCTTGATGGAAAGAACAAGAGAGCAAGATGTGA
AGCCCAAAGACTTCTCCTTAGTTTCTTTTCACCATCAGTCCCGGGGGATTCTCAGGAACATTCT
CCCGATATCCTGAAGCTGTTGGCACCTCACCCTAGATTAAAGGAAAACGTAGAGTCAATGACTA
CTGAAGTTACCAGCCATAATCTACCAAGGTTGTTACAGGACAATCTGGAGCTCCCACATTGTTC
TAGTCAGGAGGAAGCAGCAGCCAGGGGAGATGGCAGCAGTCTGATGGACCCAGCTAAAGTGAAG
GGGGATGGTCAGCAGCACCACATGAAAGACCAGGAAGAAGAGGAGGAGAAGTGGGATGCTACCT
CTCCAAAAGCTGCTTCCAGCAAGACTGGAAAATGCCAGGAAAAGAAAAGGAAACATTGCCAGAT
TGAATCCCAAGAAGAAACGGGGATGCCTAATAAAGCCTCCAAGCAAGATCCTCCCACTGATCAG
GGGGACAAACCTGCTCTCAGTTTACCACTTGCATCTTTCGACGCATCTGACCTTGAATGCGCTC
TATGTATGAGATTATTCTATGAGCCAGTCACAACACCTTGCGGGCATACTTTTTGCTTAAAATG
CCTAGAAAGATGCCTAGATCACAACGCAAAGTGTCCATTGTGCAAAGACGGTCTTTCACAGTGC
TTGGCATCAAGAAAATACAGCAAAAATGTAATAATGGAGGAGCTCATAGCTAAATTCCTTCCAG
AAGAACTGAAGGAACGAAGGAAGCTTTATGAAGAGGAAATGGAAGAACTTTCTAACCTTAATAA
GAATGTGCCTATTTTCGTGTGTACTATGGCCTATCCCACCGTTCCTTGTCCCCTGCACATCTTT
GAGCCTTGTTACCGCCTGATGATTCGTAGATGCATTGAGACAGGCACGAGACAGTTTGGCATGT
GCCTTGGAGATCCTGTCAAAGGGCACTGCCTGTTGTGTAATTGAAGCTGTAACCCAGGGACAGG
AAAATAGGCAGAAGTCCCTTGAGCCACAGCATGGGGCTACAGAAATGGCTGGGTGCCAGCCCAG
GGAAACAGAACTCATCAAGGATCTAGTCTCTCGACTCCATTCTCAATAAACAGGTTTGCAGAAT
ATGGCTGCATCCTAGAGATCAGAAATGTTCAATTCTTTGCTGATGGCCGCTCAGTGGTTGACAG
CATAGGCAAGAGGCGCTTC

hide sequence

RefSeq Acc Id:

XM_017029845 ⟹ XP_016885334

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,013,177 (+)	NCBI

Sequence:

show sequence

AGTTATTAGGCGGCGCGGGGCGGCCGGCATGGAGCTCCCGGAGGCGCGGCAGGGTCAGGAGCTC
GGTGGCATGGCGGCGGTGGCTGCCCCGATTTCCTCCAGCTGCCACTCCTTGCTTCGTGTCCCCG
GTCCCTAGACGCCTCGTCTCCTCCCGTGTCCCTCTTCCCATGGAGTCAGTACGGATCGAACAGA
TGCTGAGCTTGCCCGCTGAGGTCAGCAGCGACAACTTGGAGTCGGCGGAGCGAGGGGCATCAGC
GGCCCAAGTAGACATGGGCCCCCACCCAAAGGTGGCTGCAGAGGGCCCCGCACCTCTACCGACG
CGGGAGCCAGAGCAAGAGCAGTCTCCGGGGACCTCAACGCCGGAGAGCAAAGTCCTGCTCACGC
AGGCAGACGCCTTGGCGTCCCGGGGGCGAATCCGTGAAGCCCTCGAGGTGTATAGACAGCTCTC
CGAGCGGCAGCAGCTGGTGGCTGAGCAGCTGGAGCAGCTGGTGCGCTGCCTGGCGGAGAAAGTC
CCGCAAGGCGAGGCGCTGGCGCCGGCGCCCCCGGACGAGGGTAGCACTGCAAGCGGCACCGTGG
CGGCGGAAGAGACGGGGGCCGCCGCGGCTGCGGCGGCCACCGAGGTGTGGGACGGCTTTAAGTG
CCGGAAATGTCATGGGTTTCTATCAGACCCCGTGTCCTTGTCGTGTGGCCACACCTTTTGTAAA
CTGTGCCTGGAACGTGGGCGGGCCGCCGACCGGCGCTGTGCGCTGTGCGGGGTCAAGCTCTCCG
CCTTGATGGTGGCCACTGGGCGGGCGCGTGGAGCCCGGCGGGCTGGGCAGCAGCCGCCGCCGCC
GCTGCGAGTCAACGTGGTGCTCAGCGGCCTCCTCGGCAAGTTGTTTCCAGGCCCAGCGCGAGCG
TCGCAACTCCGGCACGAGGGCAACCGACTGTACCGCGAGCGCCAGGTGGAGGCGGCACTGCTCA
AGTACAACGAGGCAGTTAAGTTGGCTCCAAATGACCACTTGCTTTATAGCAATCGGTCTCAGAT
TTATTTCACCTTGGAGTCTCATGAGAATGCACTGCATGATGCAGAAATAGCATGTAAGCTCCGC
CCGATGGGTTTTAAGGACAATCTGGAGCTCCCACATTGTTCTAGTCAGGAGGAAGCAGCAGCCA
GGGGAGATGGCAGCAGTCTGATGGACCCAGCTAAAGTGAAGGGGGATGGTCAGCAGCACCACAT
GAAAGACCAGGAAGAAGAGGAGGAGAAGTGGGATGCTACCTCTCCAAAAGCTGCTTCCAGCAAG
ACTGGAAAATGCCAGGAAAAGAAAAGGAAACATTGCCAGATTGAATCCCAAGAAGAAACGGGGA
TGCCTAATAAAGCCTCCAAGCAAGATCCTCCCACTGATCAGGGGGACAAACCTGCTCTCAGTTT
ACCACTTGCATCTTTCGACGCATCTGACCTTGAATGCGCTCTATGTATGAGATTATTCTATGAG
CCAGTCACAACACCTTGCGGGCATACTTTTTGCTTAAAATGCCTAGAAAGATGCCTAGATCACA
ACGCAAAGTGTCCATTGTGCAAAGACGGTCTTTCACAGTGCTTGGCATCAAGAAAATACAGCAA
AAATGTAATAATGGAGGAGCTCATAGCTAAATTCCTTCCAGAAGAACTGAAGGAACGAAGGAAG
CTTTATGAAGAGGAAATGGAAGAACTTTCTAACCTTAATAAGAATGTGCCTATTTTCGTGTGTA
CTATGGCCTATCCCACCGTTCCTTGTCCCCTGCACATCTTTGAGCCTTGTTACCGCCTGATGAT
TCGTAGATGCATTGAGACAGGCACGAGACAGTTTGGCATGTGCCTTGGAGATCCTGTCAAAGGG
CACTGCCTGTTGTGTAATTGAAGCTGTAACCCAGGGACAGGAAAATAGGCAGAAGTCCCTTGAG
CCACAGCATGGGGCTACAGAAATGGCTGGGTGCCAGCCCAGGGAAACAGAACTCATCAAGGATC
TAGTCTCTCGACTCCATTCTCAATAAACAGGTTTGCAGAATATGGCTGCATCCTAGAGATCAGA
AATGTTCAATTCTTTGCTGATGGCCGCTCAGTGGTTGACAGCATAGGCAAGAGGCGCTTCAGGG
TGCTCCATCAGAGCCAGCGGGATGGCTACAACACAGCCGAC

hide sequence

RefSeq Acc Id:

XM_047442517 ⟹ XP_047298473

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,014,355 (+)	NCBI

RefSeq Acc Id:

XM_047442518 ⟹ XP_047298474

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,009,242 (+)	NCBI

RefSeq Acc Id:

XM_047442519 ⟹ XP_047298475

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,614 - 119,009,242 (+)	NCBI

RefSeq Acc Id:

XM_054327872 ⟹ XP_054183847

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,396,078 (+)	NCBI

RefSeq Acc Id:

XM_054327873 ⟹ XP_054183848

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,392,074 (+)	NCBI

RefSeq Acc Id:

XM_054327874 ⟹ XP_054183849

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,390,750 (+)	NCBI

RefSeq Acc Id:

XM_054327875 ⟹ XP_054183850

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,390,896 (+)	NCBI

RefSeq Acc Id:

XM_054327876 ⟹ XP_054183851

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,386,961 (+)	NCBI

RefSeq Acc Id:

XM_054327877 ⟹ XP_054183852

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	117,352,354 - 117,386,961 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001027026	(Get FASTA)	NCBI Sequence Viewer
	NP_001276038	(Get FASTA)	NCBI Sequence Viewer
	NP_079054	(Get FASTA)	NCBI Sequence Viewer
	XP_005262533	(Get FASTA)	NCBI Sequence Viewer
	XP_011529700	(Get FASTA)	NCBI Sequence Viewer
	XP_016885334	(Get FASTA)	NCBI Sequence Viewer
	XP_047298473	(Get FASTA)	NCBI Sequence Viewer
	XP_047298474	(Get FASTA)	NCBI Sequence Viewer
	XP_047298475	(Get FASTA)	NCBI Sequence Viewer
	XP_054183847	(Get FASTA)	NCBI Sequence Viewer
	XP_054183848	(Get FASTA)	NCBI Sequence Viewer
	XP_054183849	(Get FASTA)	NCBI Sequence Viewer
	XP_054183850	(Get FASTA)	NCBI Sequence Viewer
	XP_054183851	(Get FASTA)	NCBI Sequence Viewer
	XP_054183852	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH99847	(Get FASTA)	NCBI Sequence Viewer
	AAI00672	(Get FASTA)	NCBI Sequence Viewer
	AAI03492	(Get FASTA)	NCBI Sequence Viewer
	BAB15419	(Get FASTA)	NCBI Sequence Viewer
	BAC03744	(Get FASTA)	NCBI Sequence Viewer
	BAF82887	(Get FASTA)	NCBI Sequence Viewer
	BAG53499	(Get FASTA)	NCBI Sequence Viewer
	EAW89885	(Get FASTA)	NCBI Sequence Viewer
	EAW89886	(Get FASTA)	NCBI Sequence Viewer
	EAW89887	(Get FASTA)	NCBI Sequence Viewer
	EAW89888	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000307732
	ENSP00000307732.7
	ENSP00000360690
	ENSP00000360690.3
	ENSP00000408894
	ENSP00000408894.2
	ENSP00000414519.1
	ENSP00000435426.1
GenBank Protein	Q496Y0	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_079054 ⟸ NM_024778
- Peptide Label:	isoform 2
- UniProtKB:	A8K2D3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEGPAPLPTREPEQEQSPGTST PESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQLEQLVRCLAEKVPQGEALAPAPPDE GSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHGFLSDPVSLSCGHTFCKLCLERGRAADRRC ALCGVKLSALMVATGRARGARRAGQQPPPPLRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRE RQVEAALLKYNEAVKLAPNDHLLYSNRSQIYFTLESHENALHDAEIACKLRPMGFKDNLELPHC SSQEEAAARGDGSSLMDPAKVKGDGQQHHMKDQEEEEEKWDATSPKAASSKTGKCQEKKRKHCQ IESQEETGMPNKASKQDPPTDQGDKPALSLPLASFDASDLECALCMRLFYEPVTTPCGHTFCLK CLERCLDHNAKCPLCKDGLSQCLASRKYSKNVIMEELIAKFLPEELKERRKLYEEEMEELSNLN KNVPIFVCTMAYPTVPCPLHIFEPCYRLMIRRCIETGTRQFGMCLGDPVKGFAEYGCILEIRNV QFFADGRSVVDSIGKRRFRVLHQSQRDGYNTADIEYIEDQKVQGEDCAELMGLHNCVYQQASLW FHSLKLSLKNRILNHFGPMPEKDADPQMNPNGPAWCWWMLAVLPLESRAQLPFLAMRSLKDRLN GIRRVLAFISRNQN hide sequence

RefSeq Acc Id:	NP_001027026 ⟸ NM_001031855
- Peptide Label:	isoform 1
- UniProtKB:	Q8NB00 (UniProtKB/Swiss-Prot), Q5JPN6 (UniProtKB/Swiss-Prot), Q9H647 (UniProtKB/Swiss-Prot), Q496Y0 (UniProtKB/Swiss-Prot), A8K2D3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEGPAPLPTREPEQEQSPGTST PESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQLEQLVRCLAEKVPQGEALAPAPPDE GSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHGFLSDPVSLSCGHTFCKLCLERGRAADRRC ALCGVKLSALMVATGRARGARRAGQQPPPPLRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRE RQVEAALLKYNEAVKLAPNDHLLYSNRSQIYFTLESHENALHDAEIACKLRPMGFKAHFRKAQA LATLGKVEEALREFLYCVSLDGKNKRARCEAQRDNLELPHCSSQEEAAARGDGSSLMDPAKVKG DGQQHHMKDQEEEEEKWDATSPKAASSKTGKCQEKKRKHCQIESQEETGMPNKASKQDPPTDQG DKPALSLPLASFDASDLECALCMRLFYEPVTTPCGHTFCLKCLERCLDHNAKCPLCKDGLSQCL ASRKYSKNVIMEELIAKFLPEELKERRKLYEEEMEELSNLNKNVPIFVCTMAYPTVPCPLHIFE PCYRLMIRRCIETGTRQFGMCLGDPVKGFAEYGCILEIRNVQFFADGRSVVDSIGKRRFRVLHQ SQRDGYNTADIEYIEDQKVQGEDCAELMGLHNCVYQQASLWFHSLKLSLKNRILNHFGPMPEKD ADPQMNPNGPAWCWWMLAVLPLESRAQLPFLAMRSLKDRLNGIRRVLAFISRNQN hide sequence

RefSeq Acc Id:	XP_005262533 ⟸ XM_005262476
- Peptide Label:	isoform X1
- UniProtKB:	A8K2D3 (UniProtKB/TrEMBL)
- Sequence:	show sequence MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEGPAPLPTREPEQEQSPGTST PESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQLEQLVRCLAEKVPQGEALAPAPPDE GSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHGFLSDPVSLSCGHTFCKLCLERGRAADRRC ALCGVKLSALMVATGRARGARRAGQQPPPPLRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRE RQVEAALLKYNEAVKLAPNDHLLYSNRSQIYFTLESHENALHDAEIACKLRPMGFKAHFRKAQA LATLGKVEEALREFLYCVSLDGKNKRARCEAQRLLLSFFSPSVPGDSQEHSPDILKLLAPHPRL KENVESMTTEVTSHNLPRLLQDNLELPHCSSQEEAAARGDGSSLMDPAKVKGDGQQHHMKDQEE EEEKWDATSPKAASSKTGKCQEKKRKHCQIESQEETGMPNKASKQDPPTDQGDKPALSLPLASF DASDLECALCMRLFYEPVTTPCGHTFCLKCLERCLDHNAKCPLCKDGLSQCLASRKYSKNVIME ELIAKFLPEELKERRKLYEEEMEELSNLNKNVPIFVCTMAYPTVPCPLHIFEPCYRLMIRRCIE TGTRQFGMCLGDPVKGFAEYGCILEIRNVQFFADGRSVVDSIGKRRFRVLHQSQRDGYNTADIE YIEDQKVQGEDCAELMGLHNCVYQQASLWFHSLKLSLKNRILNHFGPMPEKDADPQMNPNGPAW CWWMLAVLPLESRAQLPFLAMRSLKDRLNGIRRVLAFISRNQN hide sequence

RefSeq Acc Id:	NP_001276038 ⟸ NM_001289109
- Peptide Label:	isoform 3
- UniProtKB:	B3KUN7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MGFKAHFRKAQALATLGKVEEALREFLYCVSLDGKNKRARCEAQRLLLSFFSPSVPGDSQEHSP DILKLLAPHPRLKENVESMTTEVTSHNLPRLLQDNLELPHCSSQEEAAARGDGSSLMDPAKVKG DGQQHHMKDQEEEEEKWDATSPKAASSKTGKCQEKKRKHCQIESQEETGMPNKASKQDPPTDQG DKPALSLPLASFDASDLECALCMRLFYEPVTTPCGHTFCLKCLERCLDHNAKCPLCKDGLSQCL ASRKYSKNVIMEELIAKFLPEELKERRKLYEEEMEELSNLNKNVPIFVCTMAYPTVPCPLHIFE PCYRLMIRRCIETGTRQFGMCLGDPVKGFAEYGCILEIRNVQFFADGRSVVDSIGKRRFRVLHQ SQRDGYNTADIEYIEDQKVQGEDCAELMGLHNCVYQQASLWFHSLKLSLKNRILNHFGPMPEKD ADPQMNPNGPAWCWWMLAVLPLESRAQLPFLAMRSLKDRLNGIRRVLAFISRNQN hide sequence

RefSeq Acc Id:

XP_011529700 ⟸ XM_011531398

- Peptide Label:

isoform X3

- Sequence:

show sequence

MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEGPAPLPTREPEQEQSPGTST
PESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQLEQLVRCLAEKVPQGEALAPAPPDE
GSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHGFLSDPVSLSCGHTFCKLCLERGRAADRRC
ALCGVKLSALMVATGRARGARRAGQQPPPPLRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRE
RQVEAALLKYNEAVKLAPNDHLLYSNRSQIYFTLESHENALHDAEIACKLRPMGFKAHFRKAQA
LATLGKVEEALREFLYCVSLDGKNKRARCEAQRLLLSFFSPSVPGDSQEHSPDILKLLAPHPRL
KENVESMTTEVTSHNLPRLLQDNLELPHCSSQEEAAARGDGSSLMDPAKVKGDGQQHHMKDQEE
EEEKWDATSPKAASSKTGKCQEKKRKHCQIESQEETGMPNKASKQDPPTDQGDKPALSLPLASF
DASDLECALCMRLFYEPVTTPCGHTFCLKCLERCLDHNAKCPLCKDGLSQCLASRKYSKNVIME
ELIAKFLPEELKERRKLYEEEMEELSNLNKNVPIFVCTMAYPTVPCPLHIFEPCYRLMIRRCIE
TGTRQFGMCLGDPVKGHCLLCN

hide sequence

RefSeq Acc Id:

XP_016885334 ⟸ XM_017029845

- Peptide Label:

isoform X4

- Sequence:

show sequence

MESVRIEQMLSLPAEVSSDNLESAERGASAAQVDMGPHPKVAAEGPAPLPTREPEQEQSPGTST
PESKVLLTQADALASRGRIREALEVYRQLSERQQLVAEQLEQLVRCLAEKVPQGEALAPAPPDE
GSTASGTVAAEETGAAAAAAATEVWDGFKCRKCHGFLSDPVSLSCGHTFCKLCLERGRAADRRC
ALCGVKLSALMVATGRARGARRAGQQPPPPLRVNVVLSGLLGKLFPGPARASQLRHEGNRLYRE
RQVEAALLKYNEAVKLAPNDHLLYSNRSQIYFTLESHENALHDAEIACKLRPMGFKDNLELPHC
SSQEEAAARGDGSSLMDPAKVKGDGQQHHMKDQEEEEEKWDATSPKAASSKTGKCQEKKRKHCQ
IESQEETGMPNKASKQDPPTDQGDKPALSLPLASFDASDLECALCMRLFYEPVTTPCGHTFCLK
CLERCLDHNAKCPLCKDGLSQCLASRKYSKNVIMEELIAKFLPEELKERRKLYEEEMEELSNLN
KNVPIFVCTMAYPTVPCPLHIFEPCYRLMIRRCIETGTRQFGMCLGDPVKGHCLLCN

hide sequence

RefSeq Acc Id:

ENSP00000414519 ⟸ ENST00000439603

RefSeq Acc Id:

ENSP00000360690 ⟸ ENST00000371628

RefSeq Acc Id:

ENSP00000435426 ⟸ ENST00000481285

RefSeq Acc Id:

ENSP00000307732 ⟸ ENST00000304778

RefSeq Acc Id:

ENSP00000408894 ⟸ ENST00000422289

RefSeq Acc Id:	XP_047298473 ⟸ XM_047442517
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_047298474 ⟸ XM_047442518
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_047298475 ⟸ XM_047442519
- Peptide Label:	isoform X6

RefSeq Acc Id:	XP_054183847 ⟸ XM_054327872
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054183848 ⟸ XM_054327873
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054183850 ⟸ XM_054327875
- Peptide Label:	isoform X4

RefSeq Acc Id:	XP_054183849 ⟸ XM_054327874
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054183851 ⟸ XM_054327876
- Peptide Label:	isoform X5

RefSeq Acc Id:	XP_054183852 ⟸ XM_054327877
- Peptide Label:	isoform X6

Protein Domains

Lon N-terminal RING-type

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q496Y0-F1-model_v2	AlphaFold	Q496Y0	1-759	view protein structure

Promoters

RGD ID:

6809005

Promoter ID:

HG_KWN:67864

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000365713, NM_001031855, OTTHUMT00000058016, UC004EQY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	117,992,581 - 117,993,552 (+)	MPROMDB

RGD ID:

6809003

Promoter ID:

HG_KWN:67865

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000058018, UC004EQZ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	117,994,101 - 117,994,601 (+)	MPROMDB

RGD ID:

13627938

Promoter ID:

EPDNEW_H29245

Type:

initiation region

Name:

LONRF3_1

Description:

LON peptidase N-terminal domain and ring finger 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29246

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,974,618 - 118,974,678	EPDNEW

RGD ID:

13627944

Promoter ID:

EPDNEW_H29246

Type:

initiation region

Name:

LONRF3_2

Description:

LON peptidase N-terminal domain and ring finger 3

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29245

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	118,975,362 - 118,975,422	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:21152	AgrOrtholog
COSMIC	LONRF3	COSMIC
Ensembl Genes	ENSG00000175556	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000304778	ENTREZGENE
	ENST00000304778.11	UniProtKB/Swiss-Prot
	ENST00000371628	ENTREZGENE
	ENST00000371628.8	UniProtKB/Swiss-Prot
	ENST00000422289	ENTREZGENE
	ENST00000422289.3	UniProtKB/TrEMBL
	ENST00000439603.5	UniProtKB/TrEMBL
	ENST00000481285	ENTREZGENE
	ENST00000481285.5	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	2.30.130.40	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.40.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000175556	GTEx
HGNC ID	HGNC:21152	ENTREZGENE
Human Proteome Map	LONRF3	Human Proteome Map
InterPro	Lon_prtase_N_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Lon_substr-bd	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PUA-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR-like_helical_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR_repeat	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_C3HC4_RING-type	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING/FYVE/PHD	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Znf_RING_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:79836	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	79836	ENTREZGENE
PANTHER	LON PEPTIDASE N-TERMINAL DOMAIN AND RING FINGER PROTEIN 3	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RING FINGER PROTEIN 127	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	LON_substr_bdg	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C3HC4	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	zf-C3HC4_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134900980	PharmGKB
PROSITE	LON_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR_REGION	UniProtKB/Swiss-Prot
	ZF_RING_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ZF_RING_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	LON	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	RING	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	TPR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	RING/U-box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48452	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF88697	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8K2D3	ENTREZGENE, UniProtKB/TrEMBL
	B3KUN7	ENTREZGENE, UniProtKB/TrEMBL
	H0Y7Q8_HUMAN	UniProtKB/TrEMBL
	LONF3_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q5JPN6	ENTREZGENE
	Q8NB00	ENTREZGENE
	Q9H647	ENTREZGENE
UniProt Secondary	Q5JPN6	UniProtKB/Swiss-Prot
	Q8NB00	UniProtKB/Swiss-Prot
	Q9H647	UniProtKB/Swiss-Prot

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Imported Disease Annotations - ClinVar

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