RTL4 (retrotransposon Gag like 4)

Gene: RTL4 (retrotransposon Gag like 4) Homo sapiens

Analyze

Symbol:

RTL4

Name:

retrotransposon Gag like 4

RGD ID:

1603494

HGNC Page

HGNC:25214

Description:

Predicted to enable nucleic acid binding activity and zinc ion binding activity. Predicted to act upstream of or within cognition and norepinephrine metabolic process.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

FLJ46608; mammalian retrotransposon-derived 4; mammalian retrotransposon-derived protein 4; Mar4; Mart4; retrotransposon Gag-like protein 4; SIRH11; Sushi-Ichi retrotransposon homolog 11; ZCCHC16; zinc finger CCHC domain-containing protein 16; zinc finger CCHC-type containing 16; zinc finger, CCHC domain containing 16

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Rtl4 (retrotransposon Gag like 4)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Rtl4 (retrotransposon Gag like 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Rtl4 (retrotransposon Gag like 4)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RTL4 (retrotransposon Gag like 4)	NCBI	Ortholog
Canis lupus familiaris (dog):	RTL4 (retrotransposon Gag like 4)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rtl4 (retrotransposon Gag like 4)	NCBI	Ortholog
Sus scrofa (pig):	RTL4 (retrotransposon Gag like 4)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	RTL4 (retrotransposon Gag like 4)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rtl4 (retrotransposon Gag like 4)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rtl4 (retrotransposon Gag like 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rtl4 (retrotransposon Gag like 4)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)

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	112,083,013 - 112,457,514 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	112,083,016 - 112,457,514 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	111,326,241 - 111,700,742 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	111,212,909 - 111,587,129 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	111,805,763 - 112,184,591 (+)	NCBI		Celera
Cytogenetic Map	X	q23	NCBI
HuRef	X	100,946,374 - 101,322,365 (+)	NCBI		HuRef
CHM1_1	X	111,237,477 - 111,611,887 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	110,531,358 - 110,907,626 (+)	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)

schizophrenia (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dichloroethane (ISO)

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

aflatoxin B1 (EXP)

atrazine (ISO)

benzo[a]pyrene (EXP)

bisphenol A (EXP,ISO)

CGP 52608 (EXP)

decabromodiphenyl ether (ISO)

dibenzofurans (ISO)

dichloroacetic acid (ISO)

fulvestrant (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cognition (IEA,ISO)

norepinephrine metabolic process (IEA,ISO)

Molecular Function

metal ion binding (IEA)

nucleic acid binding (IEA)

protein binding (IPI)

zinc ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Schizophrenia (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:12477932	PMID:14702039	PMID:15716091	PMID:16093683	PMID:18029348	PMID:19260141	PMID:24927568	PMID:27446905	PMID:32296183	PMID:36543142

Genomics

Comparative Map Data

RTL4
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	112,083,013 - 112,457,514 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	112,083,016 - 112,457,514 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	111,326,241 - 111,700,742 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	111,212,909 - 111,587,129 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	111,805,763 - 112,184,591 (+)	NCBI		Celera
Cytogenetic Map	X	q23	NCBI
HuRef	X	100,946,374 - 101,322,365 (+)	NCBI		HuRef
CHM1_1	X	111,237,477 - 111,611,887 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	110,531,358 - 110,907,626 (+)	NCBI		T2T-CHM13v2.0

Rtl4
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	143,471,147 - 143,905,410 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	143,471,903 - 143,905,407 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	144,688,209 - 145,122,414 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	144,688,907 - 145,122,411 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	141,123,450 - 141,556,953 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	140,365,456 - 140,368,776 (+)	NCBI		MGSCv36	mm8
Celera	X	128,644,641 - 129,073,163 (+)	NCBI		Celera
Cytogenetic Map	X	F2	NCBI
cM Map	X	65.85	NCBI

Rtl4
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	113,027,697 - 113,438,382 (+)	NCBI		GRCr8
mRatBN7.2	X	108,231,052 - 108,641,768 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	108,633,651 - 108,640,050 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	X	115,908,999 - 116,402,406 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	116,399,611 - 116,400,516 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	116,465,029 - 116,543,231 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	33,404,885 - 33,405,790 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	107,618,493 - 108,025,880 (+)	NCBI		Celera
Cytogenetic Map	X	q34	NCBI

Rtl4
(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	NW_004955490	3,403,958 - 3,497,789 (-)	NCBI	ChiLan1.0	ChiLan1.0

RTL4
(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	111,916,075 - 111,946,035 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	111,919,823 - 111,949,643 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	101,191,619 - 101,570,815 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	112,024,468 - 112,027,070 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

RTL4
(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	85,117,015 - 85,609,928 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	85,512,467 - 85,513,375 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	71,610,796 - 71,623,667 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	87,193,067 - 87,205,938 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	87,202,198 - 87,203,106 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	84,656,673 - 84,669,544 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	86,331,789 - 86,344,656 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	86,168,927 - 86,181,831 (+)	NCBI		UU_Cfam_GSD_1.0

Rtl4
(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	84,383,324 - 84,757,393 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936499	2,901,534 - 2,904,565 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RTL4
(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	92,223,747 - 92,335,430 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	91,920,451 - 92,333,326 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	106,588,456 - 106,697,981 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RTL4
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	99,857,087 - 100,206,786 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	100,203,031 - 100,203,963 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	25,548,015 - 25,552,986 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rtl4
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624803	3,016,865 - 3,494,115 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in RTL4
12 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:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 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 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 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 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 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
NM_001004308.2(ZCCHC16):c.4G>A (p.Glu2Lys)	single nucleotide variant	Malignant melanoma [RCV000073044]	ChrX:112454732 [GRCh38] ChrX:111697960 [GRCh37] ChrX:111584616 [NCBI36] ChrX:Xq23	not provided
NM_001004308.2(ZCCHC16):c.222C>T (p.Phe74=)	single nucleotide variant	Malignant melanoma [RCV000073045]	ChrX:112454950 [GRCh38] ChrX:111698178 [GRCh37] ChrX:111584834 [NCBI36] ChrX:Xq23	not provided
NM_001004308.2(ZCCHC16):c.-327T>A	single nucleotide variant	Lung cancer [RCV000102188]	ChrX:112131004 [GRCh38] ChrX:111374232 [GRCh37] ChrX:Xq23	uncertain significance
NM_001004308.2(ZCCHC16):c.-230+153750C>A	single nucleotide variant	Lung cancer [RCV000102189]	ChrX:112284851 [GRCh38] ChrX:111528079 [GRCh37] ChrX:Xq23	uncertain significance
NM_001004308.2(ZCCHC16):c.-229-35827C>A	single nucleotide variant	Lung cancer [RCV000102190]	ChrX:112418673 [GRCh38] ChrX:111661901 [GRCh37] ChrX:Xq23	uncertain significance
NM_001004308.2(ZCCHC16):c.-229-13877G>A	single nucleotide variant	Lung cancer [RCV000102191]	ChrX:112440623 [GRCh38] ChrX:111683851 [GRCh37] ChrX:Xq23	uncertain significance
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)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: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:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)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: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 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 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:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 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 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 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 Xq21.1-28(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-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 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 Xq21.32-23(chrX:93591590-112530092)x3	copy number gain	See cases [RCV000139204]	ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq23(chrX:111797433-113018368)x8	copy number gain	See cases [RCV000139829]	ChrX:111797433..113018368 [GRCh38] ChrX:111040661..112261596 [GRCh37] ChrX:110927317..112148252 [NCBI36] ChrX:Xq23	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 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 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 Xq23(chrX:112336424-112725076)x3	copy number gain	See cases [RCV000143001]	ChrX:112336424..112725076 [GRCh38] ChrX:111579652..111968304 [GRCh37] ChrX:111466308..111854960 [NCBI36] ChrX:Xq23	likely benign
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 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 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 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)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)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: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:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [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:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
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:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [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 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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: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 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 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2	copy number gain	See cases [RCV000448592]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xq23(chrX:111555207-112320992)x3	copy number gain	See cases [RCV000510493]	ChrX:111555207..112320992 [GRCh37] ChrX:Xq23	likely benign
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-q28	pathogenic\|uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	copy number loss	See cases [RCV000511514]	ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23	pathogenic\|uncertain significance
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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	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:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq23-24(chrX:111149921-117993284)x3	copy number gain	See cases [RCV000510739]	ChrX:111149921..117993284 [GRCh37] ChrX:Xq23-24	likely 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 Xq23(chrX:111549784-112337512)x3	copy number gain	See cases [RCV000510946]	ChrX:111549784..112337512 [GRCh37] ChrX:Xq23	uncertain significance
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	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 Xq21.33-28(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 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	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 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	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 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Schizophrenia [RCV000754364]	ChrX:110074915..115196481 [GRCh38] ChrX:Xq23	likely 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
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	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 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	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 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
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 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	copy number loss	Xq21.32q23 deletion [RCV001579312]	ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23	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 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 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	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 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 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 Xq22.3-23(chrX:104782507-112949573)x2	copy number gain	not provided [RCV001795543]	ChrX:104782507..112949573 [GRCh37] ChrX:Xq22.3-23	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	copy number gain	not specified [RCV002053170]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	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 Xq22.1-24(chrX:101982475-116885339)	copy number gain	not specified [RCV002053166]	ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24	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:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
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 Xq21.33-24(chrX:93805850-118913329)x1	copy number loss	not provided [RCV002474518]	ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24	pathogenic
GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	copy number loss	not provided [RCV002475804]	ChrX:108922296..111549785 [GRCh37] ChrX:Xq23	pathogenic
NM_001395362.2(RTL4):c.449C>T (p.Ala150Val)	single nucleotide variant	not specified [RCV004248674]	ChrX:112455177 [GRCh38] ChrX:111698405 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.552C>A (p.Phe184Leu)	single nucleotide variant	not specified [RCV004254009]	ChrX:112455280 [GRCh38] ChrX:111698508 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.742A>G (p.Thr248Ala)	single nucleotide variant	not specified [RCV004268324]	ChrX:112455470 [GRCh38] ChrX:111698698 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.355A>T (p.Ser119Cys)	single nucleotide variant	not specified [RCV004362403]	ChrX:112455083 [GRCh38] ChrX:111698311 [GRCh37] ChrX:Xq23	uncertain significance
GRCh37/hg19 Xq23-25(chrX:110921170-124327177)x2	copy number gain	not provided [RCV003483973]	ChrX:110921170..124327177 [GRCh37] ChrX:Xq23-25	pathogenic
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	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_001395362.2(RTL4):c.872G>A (p.Arg291Lys)	single nucleotide variant	not provided [RCV003432398]\|not specified [RCV004364661]	ChrX:112455600 [GRCh38] ChrX:111698828 [GRCh37] ChrX:Xq23	likely benign\|uncertain significance
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_001395362.2(RTL4):c.172C>T (p.Leu58Phe)	single nucleotide variant	not specified [RCV004454767]	ChrX:112454900 [GRCh38] ChrX:111698128 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.818G>A (p.Arg273His)	single nucleotide variant	not specified [RCV004454775]	ChrX:112455546 [GRCh38] ChrX:111698774 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.14C>T (p.Thr5Met)	single nucleotide variant	not specified [RCV004454766]	ChrX:112454742 [GRCh38] ChrX:111697970 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.656A>G (p.His219Arg)	single nucleotide variant	not specified [RCV004454772]	ChrX:112455384 [GRCh38] ChrX:111698612 [GRCh37] ChrX:Xq23	likely benign
NM_001395362.2(RTL4):c.179A>G (p.His60Arg)	single nucleotide variant	not specified [RCV004454768]	ChrX:112454907 [GRCh38] ChrX:111698135 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.569A>T (p.Asp190Val)	single nucleotide variant	not specified [RCV004454771]	ChrX:112455297 [GRCh38] ChrX:111698525 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.548A>C (p.Gln183Pro)	single nucleotide variant	not specified [RCV004454770]	ChrX:112455276 [GRCh38] ChrX:111698504 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.76C>T (p.Arg26Trp)	single nucleotide variant	not specified [RCV004454773]	ChrX:112454804 [GRCh38] ChrX:111698032 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.873A>T (p.Arg291Ser)	single nucleotide variant	not specified [RCV004454776]	ChrX:112455601 [GRCh38] ChrX:111698829 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.293T>C (p.Leu98Pro)	single nucleotide variant	not specified [RCV004454769]	ChrX:112455021 [GRCh38] ChrX:111698249 [GRCh37] ChrX:Xq23	uncertain significance
NM_001395362.2(RTL4):c.77G>A (p.Arg26Gln)	single nucleotide variant	not specified [RCV004454774]	ChrX:112454805 [GRCh38] ChrX:111698033 [GRCh37] ChrX:Xq23	likely benign

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1318
Count of miRNA genes:	829
Interacting mature miRNAs:	929
Transcripts:	ENST00000340433
Prediction methods:	Miranda, Pita, Rnahybrid
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region

DXS8021

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,445,112 - 111,445,316	UniSTS	GRCh37
Build 36	X	111,331,768 - 111,331,972	RGD	NCBI36
Celera	X	111,923,376 - 111,923,580	RGD
Cytogenetic Map	X	q23	UniSTS
Marshfield Genetic Map	X	66.04	RGD
Marshfield Genetic Map	X	66.04	UniSTS
Genethon Genetic Map	X	117.5	UniSTS
deCODE Assembly Map	X	107.24	UniSTS

DXS1059

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,325,980 - 111,326,101	UniSTS	GRCh37
GRCh37	X	111,325,975 - 111,326,164	UniSTS	GRCh37
Build 36	X	111,212,631 - 111,212,820	RGD	NCBI36
Celera	X	111,805,485 - 111,805,674	RGD
Celera	X	111,805,490 - 111,805,611	UniSTS
Cytogenetic Map	X	q23	UniSTS
Marshfield Genetic Map	X	68.2	UniSTS
Marshfield Genetic Map	X	68.2	RGD
Genethon Genetic Map	X	121.0	UniSTS
TNG Radiation Hybrid Map	X	24906.0	UniSTS
GeneMap99-GB4 RH Map	X	285.33	UniSTS
Whitehead-YAC Contig Map	X		UniSTS
GeneMap99-G3 RH Map	X	3368.0	UniSTS

AL008893

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,588,525 - 111,588,692	UniSTS	GRCh37
Build 36	X	111,475,181 - 111,475,348	RGD	NCBI36
Celera	X	112,073,156 - 112,073,323	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,210,883 - 101,211,050	UniSTS

DXS8375

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,389,315 - 111,389,393	UniSTS	GRCh37
Build 36	X	111,275,971 - 111,276,049	RGD	NCBI36
Celera	X	111,868,692 - 111,868,770	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,010,110 - 101,010,188	UniSTS

DXS7360

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,365,286 - 111,365,401	UniSTS	GRCh37
Build 36	X	111,251,942 - 111,252,057	RGD	NCBI36
Celera	X	111,844,796 - 111,844,911	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	100,985,932 - 100,986,047	UniSTS

AL032556

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,559,865 - 111,560,029	UniSTS	GRCh37
Build 36	X	111,446,521 - 111,446,685	RGD	NCBI36
Celera	X	112,044,496 - 112,044,660	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,182,366 - 101,182,530	UniSTS

AL032613

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,554,788 - 111,554,970	UniSTS	GRCh37
Build 36	X	111,441,444 - 111,441,626	RGD	NCBI36
Celera	X	112,033,024 - 112,033,206	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,177,825 - 101,178,007	UniSTS

G63165

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,688,625 - 111,688,939	UniSTS	GRCh37
Build 36	X	111,575,281 - 111,575,595	RGD	NCBI36
Celera	X	112,172,784 - 112,173,098	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,310,376 - 101,310,690	UniSTS

AL031567

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,582,258 - 111,582,434	UniSTS	GRCh37
Build 36	X	111,468,914 - 111,469,090	RGD	NCBI36
Celera	X	112,066,889 - 112,067,065	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,204,681 - 101,204,856	UniSTS

SHGC-81698

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,480,737 - 111,481,076	UniSTS	GRCh37
Build 36	X	111,367,393 - 111,367,732	RGD	NCBI36
Celera	X	111,958,978 - 111,959,317	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,101,706 - 101,102,045	UniSTS

WI-10731

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,607,890 - 111,608,139	UniSTS	GRCh37
Build 36	X	111,494,546 - 111,494,795	RGD	NCBI36
Celera	X	112,092,521 - 112,092,770	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,230,167 - 101,230,416	UniSTS
Whitehead-RH Map	X	268.2	UniSTS

DXS7801

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,619,890 - 111,620,041	UniSTS	GRCh37
Build 36	X	111,506,546 - 111,506,697	RGD	NCBI36
Celera	X	112,104,521 - 112,104,672	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,242,167 - 101,242,318	UniSTS

G20691

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,626,508 - 111,626,654	UniSTS	GRCh37
GRCh37	2	27,848,642 - 27,848,788	UniSTS	GRCh37
Build 36	X	111,513,164 - 111,513,310	RGD	NCBI36
Celera	X	112,111,139 - 112,111,285	RGD
Celera	2	27,694,098 - 27,694,244	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	X	q23	UniSTS
HuRef	2	27,590,288 - 27,590,434	UniSTS

A006C05

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	27,848,642 - 27,848,788	UniSTS	GRCh37
GRCh37	X	111,626,508 - 111,626,653	UniSTS	GRCh37
Build 36	X	111,513,164 - 111,513,309	RGD	NCBI36
Celera	X	112,111,139 - 112,111,284	RGD
Celera	2	27,694,098 - 27,694,244	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
Cytogenetic Map	X	q23	UniSTS
HuRef	2	27,590,288 - 27,590,434	UniSTS
HuRef	X	101,249,136 - 101,249,281	UniSTS
GeneMap99-GB4 RH Map	2	97.89	UniSTS

DXS7299

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,351,358 - 111,351,483	UniSTS	GRCh37
Build 36	X	111,238,014 - 111,238,139	RGD	NCBI36
Celera	X	111,830,867 - 111,830,992	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	100,971,736 - 100,971,861	UniSTS

AL031553

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,539,283 - 111,539,522	UniSTS	GRCh37
Build 36	X	111,425,939 - 111,426,178	RGD	NCBI36
Celera	X	112,017,522 - 112,017,761	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,160,127 - 101,160,366	UniSTS

DXS7369

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,616,554 - 111,616,625	UniSTS	GRCh37
Build 36	X	111,503,210 - 111,503,281	RGD	NCBI36
Celera	X	112,101,185 - 112,101,256	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,238,831 - 101,238,902	UniSTS

WI-18604

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	2	27,848,574 - 27,848,673	UniSTS	GRCh37
GRCh37	X	111,626,622 - 111,626,721	UniSTS	GRCh37
Build 36	X	111,513,278 - 111,513,377	RGD	NCBI36
Celera	2	27,694,030 - 27,694,129	UniSTS
Celera	X	112,111,253 - 112,111,352	RGD
Cytogenetic Map	X	q23	UniSTS
Cytogenetic Map	2	p23.3	UniSTS
HuRef	2	27,590,220 - 27,590,319	UniSTS
HuRef	X	101,249,250 - 101,249,349	UniSTS

RH47718

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,602,722 - 111,602,885	UniSTS	GRCh37
Build 36	X	111,489,378 - 111,489,541	RGD	NCBI36
Celera	X	112,087,353 - 112,087,516	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	101,224,999 - 101,225,162	UniSTS
GeneMap99-GB4 RH Map	X	287.52	UniSTS
NCBI RH Map	X	561.2	UniSTS

AL021629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	111,338,737 - 111,338,860	UniSTS	GRCh37
Build 36	X	111,225,393 - 111,225,516	RGD	NCBI36
Celera	X	111,818,246 - 111,818,369	RGD
Cytogenetic Map	X	q23	UniSTS
HuRef	X	100,958,880 - 100,959,003	UniSTS

DXS1059

Human Assembly	Chr	Position (strand)	Source
Cytogenetic Map	X	q23	UniSTS
TNG Radiation Hybrid Map	X	24906.0	UniSTS
GeneMap99-G3 RH Map	X	3368.0	UniSTS

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

adipose tissue

appendage

High

Medium

Low

164

136

Below cutoff

329

356

885

264

241

386

332

2429

174

470

424

211

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001004308	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001395362	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AK128465	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031176	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031223	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL392112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL929583	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC137433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX088563	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX119929	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459305	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000340433 ⟹ ENSP00000340590

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	112,274,472 - 112,457,134 (+)	Ensembl

RefSeq Acc Id:

ENST00000695808 ⟹ ENSP00000512188

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	112,083,025 - 112,457,245 (+)	Ensembl

RefSeq Acc Id:

ENST00000695839 ⟹ ENSP00000512211

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	112,083,016 - 112,457,514 (+)	Ensembl

RefSeq Acc Id:

NM_001004308 ⟹ NP_001004308

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	112,083,013 - 112,457,514 (+)	NCBI
GRCh37	X	111,326,253 - 111,700,473 (+)	RGD
Build 36	X	111,212,909 - 111,587,129 (+)	NCBI Archive
Celera	X	111,805,763 - 112,184,591 (+)	RGD
HuRef	X	100,946,374 - 101,322,365 (+)	ENTREZGENE
CHM1_1	X	111,237,477 - 111,611,887 (+)	NCBI
T2T-CHM13v2.0	X	110,531,358 - 110,907,626 (+)	NCBI

Sequence:

show sequence

GCAGCTCCGCGGCCAGGGGTGGAAGGAAGCCGCAGCCGCAGCCCCAAGTCAACCCCCGCTGCCC
CGTCCCACCGTCTCATCTCTCCCCCCTCGCAGAGACGGGGTTTCACCATGTTAGCCAGGATGGT
CTCGATCTCCTGACCTCGTGATCCACCTGCCTCGGCCTCCCAAACTGCTGGGATTACAGGCGTG
AGCCACTGCGCCCTGCCTGGACCATTGGCCTTTTCCATGAAGAAGAGGCAACATTGAGTGGCGG
ACAACACTTTTTGGCATCTCTCCAATTCAGCTGTTAGCATCTCCTAGTGTCTTCTTCACAGCTA
ACAGCTTTGGCTACTTGCTCATGACACTCCGTCTCTGATCACAGAGCAAATCCACTGTCTCCAT
TGGTTTCCAGTACTAGTACTCAATTCTACTCAATCCCACCTGATTCCAGGAGACATAATGGAGA
AGTGCACGAAATCATCATCTACCATGCAGGTAGAGCCTTCCTTTCTTCAGGCAGAGAATCTGAT
TCTGCGGCTTCAAATGCAGCATCCAACCACGGAGAACACTGCTAAAAGGGGCCAAGTCATGCCT
GCCCTGGCCACCACAGTGATGCCTGTACCATACTCACTTGAGCATCTCACCCAGTTTCATGGTG
ACCCTGCCAATTGCTCAGAGTTCCTCACTCAGGTGACTACCTACTTGACAGCTCTCCAAATCTC
TAATCCTGCAAATGATGCCCAGATCAAACTCTTTTTTGATTACCTATCTCAGCAGTTAGAAAGT
TGTGGGATCATATCTGGGCCTGACAAGAGTACCTTACTGAAGCAATATGAGAATCTTATTCTTG
AGTTCCAGCAGTCATTTGGTAAACCCACAAAACAGGAAATCAATCCTCTGATGAATGCTAAGTT
TGACAAAGGAGACAACTCCTCTCAGCAGGACCCTGCTACTTTCCACCTCCTCGCTCAAAATCTG
ATCTGTAATGAAACCAATCAGAGTGGTCAGTTCGAAAAGGCACTAGCTGATCCCAACCAGGATG
AAGAGAGTGTCACTGATATGATGGACAATCTTCCAGACCTGATCACTCAGTGCATTCAGTTGGA
CAAGAAACATAGTGACAGGCCAGAGCTCCTACAGTCAGAGACCCAGCTCCCATTGTTGGCTTCC
TTGATCCAACACCAAGCCCTCTTTAGCCCCACAGATCCACCACCCAAGAAAGGGCCTATACAGC
TGCGAGAAGGCCAGCTGCCTCTCACCCCAGCCAAACGAGCCCGCCAGCAAGAAACTCAGTTGTG
CCTCTACTGCAGCCAATCTGGTCACTTCACAAGAGATTGCCTTGCCAAACGTTCTCGAGCTCCG
GCAACGACAAATAACACAGCTCACCAGTAAGAGGAGACCAGGAAAGTCACTTTTTAAACTTACA
TCCCAGCCTTACTGATTTATAACCTGCATTAACTTTTAAAATACAGATGGGGAACTGTGACACC
ACTTTATAGGCAGTTATGAACTGACACGCTTTGGGGGAATTTAAACAATCAGATCTTGTTCATT
GGCAAATTACCCCTCACGAAACCTAACCCGAGAATGATGAAAACAATTCACAGGCACTTTCTGC
AGTTGGGATTAATTCTCCAAGAGCACCAAAAACCTGCAGGCAAAACTTTGCCCAGTCTGAGCCA
ATGAAAATAACCGTGGAAGCACATTGGGAACCTTATCCTGACCAATGGGTGACATCTGGGTTGA
GTTTGTGTCCCAAATCCTGAATCTTGTGTGCCTAGAAATGAGCCCAAGACTTTTACCTTCACCT
TTATTGGTCTGTATCCTAGTTTCCTGTTGGCTTAGGACCTTTGGCTGAAGTCCAAATGACATTC
CTATAATCTGCTTATATTCTCCTCCTAGAGTTTGGACCATGCTTCACCTATTGACTACGATCTA
CCTTCAGCATAAATCAACCTTCCTGGAACCACAGCTCTGCCACCCTTCCATAGAGCTATATGTT
TTGTTTCCATCTAAAGACTCATGCTTTCCCAACAAACAGAACCTCCTGGCTATTTACAAACCAG
ATTGAATGGGCATTTGAATACTGCTTGGAACTGTTGGTCCCTTTTTCTTTGCAGGCTAGCCCAT
CAGGCAGGTGTATGCTTTTAGCCAAGCCCACCAATTCCAACTTATTCCTCTCTTCTCCAACAAC
CCTACTTGAGGTTCCAGCATGTCTTATAGCCAAGTCAATATGCTCTAGGATAAGGATTTCTGAA
AGGTATTTAGTGAGAGTTGGGGATGGTGTGTCATAATTACTGTATCTGTAGCATGTCCTTGCTG
CCTTGGACAAGGGACCTGGCCAAATAAATCTCCACTGAAGACTGACAGCCAGACCCTGCAGTAG
TTTCTAACTCTAGAAGCCTCAATGTAGTCACCATCTAGGATTACTACTCATTGCTATTGAGCTC
TACCTTTATGGACCACCTCTGAAGTCCTTCATCTAATTGAGGATCTTAAAAAACAATGAATGGC
AAAAAACTTCCTACACTATCTCATCTGAAAAATCCTGGGGCACATACATTAAAACCATTTGTGC
ACAAAACTCAGGAAGTCGGGATTTTATTGCTTATGTTTTACTCTTGGTACACACCAGCTTTGTG
TAGATTCCTGATGCTTCTGAACAAAAGTAGTGTTATGCTAGAAAGGCAAAACTCCCTAAAATGT
TAAAACTGTTCAGCAATGATCACTGCTGGTAATTACCAGCCCTCTGTTCCCTGCTTCTTGTTTC
TGATGTATGTCCCCAAAATGGATATCCTGGAGAAATATCAGTAATCACATATTCCCTAGCAACC
ATCAAGGCCTCTCAGAACATGAAATCCCATTGTACTTTGGCTTTGTTTCTGGAGAATTATGCTA
ACTTTGACAATACTTAAACCTAACTAGGACCTTACTACTCTGATTCTGTAGCACCAATAAATAG
ATATTTTCACCTTG

hide sequence

RefSeq Acc Id:

NM_001395362 ⟹ NP_001382291

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	112,083,016 - 112,457,514 (+)	NCBI
T2T-CHM13v2.0	X	110,531,361 - 110,907,626 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001004308	(Get FASTA)	NCBI Sequence Viewer
	NP_001382291	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAI37431	(Get FASTA)	NCBI Sequence Viewer
	AAI37434	(Get FASTA)	NCBI Sequence Viewer
	BAC87453	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000340590.2
	ENSP00000512188
	ENSP00000512188.1
	ENSP00000512211
	ENSP00000512211.1
GenBank Protein	Q6ZR62	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001004308 ⟸ NM_001004308

- UniProtKB:

B2RPG1 (UniProtKB/Swiss-Prot), Q6ZR62 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MEKCTKSSSTMQVEPSFLQAENLILRLQMQHPTTENTAKRGQVMPALATTVMPVPYSLEHLTQF
HGDPANCSEFLTQVTTYLTALQISNPANDAQIKLFFDYLSQQLESCGIISGPDKSTLLKQYENL
ILEFQQSFGKPTKQEINPLMNAKFDKGDNSSQQDPATFHLLAQNLICNETNQSGQFEKALADPN
QDEESVTDMMDNLPDLITQCIQLDKKHSDRPELLQSETQLPLLASLIQHQALFSPTDPPPKKGP
IQLREGQLPLTPAKRARQQETQLCLYCSQSGHFTRDCLAKRSRAPATTNNTAHQ

hide sequence

RefSeq Acc Id:

ENSP00000340590 ⟸ ENST00000340433

RefSeq Acc Id:	NP_001382291 ⟸ NM_001395362
- UniProtKB:	Q6ZR62 (UniProtKB/Swiss-Prot), B2RPG1 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:

ENSP00000512188 ⟸ ENST00000695808

RefSeq Acc Id:

ENSP00000512211 ⟸ ENST00000695839

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q6ZR62-F1-model_v2	AlphaFold	Q6ZR62	1-310	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:25214	AgrOrtholog
COSMIC	RTL4	COSMIC
Ensembl Genes	ENSG00000187823	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000340433.4	UniProtKB/Swiss-Prot
	ENST00000695808	ENTREZGENE
	ENST00000695808.1	UniProtKB/Swiss-Prot
	ENST00000695839	ENTREZGENE
	ENST00000695839.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000187823	GTEx
HGNC ID	HGNC:25214	ENTREZGENE
Human Proteome Map	RTL4	Human Proteome Map
InterPro	LDOC1-rel	UniProtKB/Swiss-Prot
	Znf_CCHC	UniProtKB/Swiss-Prot
	Znf_CCHC_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:340595	UniProtKB/Swiss-Prot
NCBI Gene	340595	ENTREZGENE
PANTHER	PTHR15503	UniProtKB/Swiss-Prot
	RETROTRANSPOSON GAG-LIKE PROTEIN 4	UniProtKB/Swiss-Prot
PharmGKB	PA142670538	PharmGKB
PROSITE	ZF_CCHC	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF57756	UniProtKB/Swiss-Prot
UniProt	B2RPG1	ENTREZGENE
	Q6ZR62	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B2RPG1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-28	RTL4	retrotransposon Gag like 4	ZCCHC16	zinc finger CCHC-type containing 16	Symbol and/or name change	5135510	APPROVED
2016-02-16	ZCCHC16	zinc finger CCHC-type containing 16		zinc finger, CCHC domain containing 16	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar