UBL4A (ubiquitin like 4A) - Rat Genome Database

Name: UBL4A
Creator: Rat Genome Database
License: Creative Commons CC BY 4.0
Keywords: Rat Gene RGD Genome

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Gene: UBL4A (ubiquitin like 4A) Homo sapiens

Analyze

Symbol:

UBL4A

Name:

ubiquitin like 4A

RGD ID:

1348580

HGNC Page

HGNC

Description:

Exhibits chaperone binding activity. Involved in tail-anchored membrane protein insertion into ER membrane. Localizes to BAT3 complex; membrane; and nucleoplasm; INTERACTS WITH 17beta-estradiol; aflatoxin B1; aflatoxin B2.

Type:

protein-coding

RefSeq Status:

VALIDATED

Also known as:

DX254E; DXS254E; G6PD; GDX; GET5; MDY2; TMA24; ubiquitin-like 4; ubiquitin-like 4A; ubiquitin-like protein 4A; ubiquitin-like protein GDX; UBL4

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Ubl4a (ubiquitin-like 4A)	HGNC	Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Ubl4a (ubiquitin-like 4A)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther, PhylomeDB
Chinchilla lanigera (long-tailed chinchilla):	Ubl4a (ubiquitin like 4A)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	UBL4A (ubiquitin like 4A)	NCBI	Ortholog
Canis lupus familiaris (dog):	UBL4A (ubiquitin like 4A)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Ubl4a (ubiquitin like 4A)	NCBI	Ortholog
Sus scrofa (pig):	UBL4A (ubiquitin like 4A)	HGNC	Ensembl, NCBI, OrthoDB
Chlorocebus sabaeus (African green monkey):	UBL4A (ubiquitin like 4A)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Ubl4a (ubiquitin like 4A)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Gm44504 (predicted readthrough transcript (NMD candidate), 44504)	HGNC	HomoloGene
Alliance orthologs ³
Mus musculus (house mouse):	Ubl4a (ubiquitin-like 4A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|OMA\|PhylomeDB\|TreeFam)
Rattus norvegicus (Norway rat):	Ubl4a (ubiquitin-like 4A)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Gm44504 (predicted readthrough transcript (NMD candidate), 44504)	Alliance	DIOPT (Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|Roundup)
Danio rerio (zebrafish):	zgc:56596	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Saccharomyces cerevisiae (baker's yeast):	MDY2	Alliance	DIOPT (InParanoid\|OrthoFinder\|PhylomeDB)
Drosophila melanogaster (fruit fly):	CG7215	Alliance	DIOPT (InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)

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.p13 Ensembl	X	154,483,717 - 154,486,615 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	154,483,717 - 154,486,615 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	153,712,056 - 153,714,954 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,365,250 - 153,368,126 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	153,275,761 - 153,278,636	NCBI
Celera	X	153,873,107 - 153,875,983 (-)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,288,568 - 142,290,380 (-)	NCBI		HuRef
CHM1_1	X	153,623,701 - 153,626,654 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adrenoleukodystrophy (IAGP)

autistic disorder (IAGP)

severe congenital encephalopathy due to MECP2 mutation (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

1H-pyrazole (ISO)

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

2,6-dinitrotoluene (ISO)

3,4-methylenedioxymethamphetamine (ISO)

4,4'-diaminodiphenylmethane (ISO)

aflatoxin B1 (EXP,ISO)

aflatoxin B2 (EXP)

Aroclor 1254 (ISO)

bathocuproine disulfonic acid (EXP)

benzo[a]pyrene (EXP)

butan-1-ol (EXP)

butanal (EXP)

cadmium dichloride (ISO)

carbon nanotube (ISO)

diazinon (EXP)

dibutyl phthalate (ISO)

doxorubicin (EXP)

ethanol (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

leflunomide (EXP)

naphthalene (ISO)

poly(I:C) (ISO)

potassium chromate (EXP)

potassium dichromate (EXP)

progesterone (EXP)

pyrrolidine dithiocarbamate (EXP)

sodium arsenite (EXP)

Soman (ISO)

tetrachloromethane (ISO)

thapsigargin (ISO)

titanium dioxide (ISO)

topotecan (ISO)

trichostatin A (EXP)

triptonide (ISO)

valproic acid (EXP,ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

cellular protein modification process (TAS)

protein phosphopantetheinylation (IEA)

tail-anchored membrane protein insertion into ER membrane (IDA,IMP)

Cellular Component

BAT3 complex (IDA)

cytoplasm (IDA)

cytosol (IDA)

membrane (IDA)

nucleoplasm (IDA)

nucleus (IDA)

Molecular Function

chaperone binding (IPI)

protein binding (IPI)

ubiquitin-like protein transferase activity (TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Schizophrenia (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:2829204	PMID:6533418	PMID:8733135	PMID:8889548	PMID:12477932	PMID:15489334	PMID:16196087	PMID:16344560	PMID:16872915	PMID:16916647	PMID:17081983	PMID:17207965
PMID:17558393	PMID:17643375	PMID:18029348	PMID:19615732	PMID:20467437	PMID:20676083	PMID:21139048	PMID:21516116	PMID:21636303	PMID:21832049	PMID:21853274	PMID:21890473
PMID:21963094	PMID:21987572	PMID:22053931	PMID:22190034	PMID:22190037	PMID:22658674	PMID:22912744	PMID:22939629	PMID:23000965	PMID:23142665	PMID:23246001	PMID:23349634
PMID:23533635	PMID:23602568	PMID:23665563	PMID:23723067	PMID:24424410	PMID:24581120	PMID:24811749	PMID:24816145	PMID:24885147	PMID:24981174	PMID:25036637	PMID:25147182
PMID:25415308	PMID:25416956	PMID:25499913	PMID:25535373	PMID:25713138	PMID:25752541	PMID:25959826	PMID:26186194	PMID:26344197	PMID:26389662	PMID:26496610	PMID:26752685
PMID:26972000	PMID:27193484	PMID:27432908	PMID:27545878	PMID:28514442	PMID:28775156	PMID:28821611	PMID:29180628	PMID:29384474	PMID:29549242	PMID:29685906	PMID:29911972
PMID:30021884	PMID:30146258	PMID:30455355	PMID:30833792	PMID:31073040	PMID:31288830	PMID:31451677	PMID:32203420	PMID:32296183	PMID:32694731	PMID:32814053	PMID:33060197

Genomics

Comparative Map Data

UBL4A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	154,483,717 - 154,486,615 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	154,483,717 - 154,486,615 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	153,712,056 - 153,714,954 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,365,250 - 153,368,126 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	153,275,761 - 153,278,636	NCBI
Celera	X	153,873,107 - 153,875,983 (-)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,288,568 - 142,290,380 (-)	NCBI		HuRef
CHM1_1	X	153,623,701 - 153,626,654 (-)	NCBI		CHM1_1

Ubl4a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	73,409,324 - 73,412,154 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	73,409,324 - 73,416,824 (-)	Ensembl
GRCm38	X	74,365,718 - 74,368,548 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	74,365,718 - 74,373,218 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	71,612,740 - 71,613,866 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	70,620,121 - 70,621,247 (-)	NCBI			mm8
Celera	X	65,621,216 - 65,622,342 (-)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	38.0	NCBI

Ubl4a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	152,151,242 - 152,154,094 (-)	NCBI
Rnor_6.0 Ensembl	X	156,340,925 - 156,343,777 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	156,340,919 - 156,343,771 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	1	152,081,056 - 152,083,908 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	160,239,300 - 160,242,152 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	1	135,742,562 - 135,745,414 (+)	NCBI		Celera
Cytogenetic Map	X	q37	NCBI

Ubl4a
(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_004955580	997,204 - 1,001,368 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955580	998,953 - 1,001,368 (-)	NCBI	ChiLan1.0	ChiLan1.0

UBL4A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	153,796,889 - 153,799,214 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	X	143,925,494 - 143,928,444 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

UBL4A
(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	122,195,500 - 122,196,579 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	122,195,502 - 122,196,577 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	125,337,154 - 125,338,233 (-)	NCBI
UMICH_Zoey_3.1	X	121,106,157 - 121,107,231 (-)	NCBI
UNSW_CanFamBas_1.0	X	123,621,230 - 123,622,309 (-)	NCBI
UU_Cfam_GSD_1.0	X	123,383,001 - 123,384,080 (-)	NCBI

Ubl4a
(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	119,500,690 - 119,503,571 (-)	NCBI
SpeTri2.0	NW_004936809	1,238,459 - 1,241,319 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

UBL4A
(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	125,007,122 - 125,013,980 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	125,007,121 - 125,009,657 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	143,575,797 - 143,578,331 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

UBL4A
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	128,733,219 - 128,736,150 (-)	NCBI
ChlSab1.1 Ensembl	X	128,732,876 - 128,736,077 (-)	Ensembl

Ubl4a
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624946	955,993 - 958,424 (-)	NCBI

Position Markers

ECD02004

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,080 - 153,713,925	UniSTS	GRCh37
Build 36	X	153,366,274 - 153,367,119	RGD	NCBI36
Celera	X	153,874,131 - 153,874,976	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,159 - 142,290,004	UniSTS

ECD02822

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,715,208 - 153,716,024	UniSTS	GRCh37
Build 36	X	153,368,402 - 153,369,218	RGD	NCBI36
Celera	X	153,876,259 - 153,877,075	RGD
Cytogenetic Map	X	q28	UniSTS

ECD09314

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,993 - 153,714,626	UniSTS	GRCh37
Build 36	X	153,367,187 - 153,367,820	RGD	NCBI36
Celera	X	153,875,044 - 153,875,677	RGD
Cytogenetic Map	X	q28	UniSTS

ECD10048

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,358 - 153,712,971	UniSTS	GRCh37
Build 36	X	153,365,552 - 153,366,165	RGD	NCBI36
Celera	X	153,873,409 - 153,874,022	RGD
Cytogenetic Map	X	q28	UniSTS

ECD13455

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,711,623 - 153,712,140	UniSTS	GRCh37
Build 36	X	153,364,817 - 153,365,334	RGD	NCBI36
Celera	X	153,872,674 - 153,873,191	RGD
Cytogenetic Map	X	q28	UniSTS

REN89753

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,710,948 - 153,711,193	UniSTS	GRCh37
Build 36	X	153,364,142 - 153,364,387	RGD	NCBI36
Celera	X	153,871,999 - 153,872,244	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,288,257 - 142,288,502	UniSTS

REN89756

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,711,617 - 153,711,887	UniSTS	GRCh37
Build 36	X	153,364,811 - 153,365,081	RGD	NCBI36
Celera	X	153,872,668 - 153,872,938	RGD
Cytogenetic Map	X	q28	UniSTS

REN89757

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,711,835 - 153,712,090	UniSTS	GRCh37
Build 36	X	153,365,029 - 153,365,284	RGD	NCBI36
Celera	X	153,872,886 - 153,873,141	RGD
Cytogenetic Map	X	q28	UniSTS

REN89758

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,062 - 153,712,316	UniSTS	GRCh37
Build 36	X	153,365,256 - 153,365,510	RGD	NCBI36
Celera	X	153,873,113 - 153,873,367	RGD
Cytogenetic Map	X	q28	UniSTS

REN89759

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,296 - 153,712,545	UniSTS	GRCh37
Build 36	X	153,365,490 - 153,365,739	RGD	NCBI36
Celera	X	153,873,347 - 153,873,596	RGD
Cytogenetic Map	X	q28	UniSTS

REN89760

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,484 - 153,712,745	UniSTS	GRCh37
Build 36	X	153,365,678 - 153,365,939	RGD	NCBI36
Celera	X	153,873,535 - 153,873,796	RGD
Cytogenetic Map	X	q28	UniSTS

REN89761

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,732 - 153,712,985	UniSTS	GRCh37
Build 36	X	153,365,926 - 153,366,179	RGD	NCBI36
Celera	X	153,873,783 - 153,874,036	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,288,811 - 142,289,064	UniSTS

REN89762

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,976 - 153,713,224	UniSTS	GRCh37
Build 36	X	153,366,170 - 153,366,418	RGD	NCBI36
Celera	X	153,874,027 - 153,874,275	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,055 - 142,289,303	UniSTS

REN89763

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,169 - 153,713,396	UniSTS	GRCh37
Build 36	X	153,366,363 - 153,366,590	RGD	NCBI36
Celera	X	153,874,220 - 153,874,447	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,248 - 142,289,475	UniSTS

REN89764

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,364 - 153,713,625	UniSTS	GRCh37
Build 36	X	153,366,558 - 153,366,819	RGD	NCBI36
Celera	X	153,874,415 - 153,874,676	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,443 - 142,289,704	UniSTS

REN89765

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,617 - 153,713,884	UniSTS	GRCh37
Build 36	X	153,366,811 - 153,367,078	RGD	NCBI36
Celera	X	153,874,668 - 153,874,935	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,696 - 142,289,963	UniSTS

REN89766

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,868 - 153,714,120	UniSTS	GRCh37
Build 36	X	153,367,062 - 153,367,314	RGD	NCBI36
Celera	X	153,874,919 - 153,875,171	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,289,947 - 142,290,199	UniSTS

REN89767

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,714,096 - 153,714,346	UniSTS	GRCh37
Build 36	X	153,367,290 - 153,367,540	RGD	NCBI36
Celera	X	153,875,147 - 153,875,397	RGD
Cytogenetic Map	X	q28	UniSTS

REN89768

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,714,336 - 153,714,594	UniSTS	GRCh37
Build 36	X	153,367,530 - 153,367,788	RGD	NCBI36
Celera	X	153,875,387 - 153,875,645	RGD
Cytogenetic Map	X	q28	UniSTS

REN89769

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,714,441 - 153,714,667	UniSTS	GRCh37
Build 36	X	153,367,635 - 153,367,861	RGD	NCBI36
Celera	X	153,875,492 - 153,875,718	RGD
Cytogenetic Map	X	q28	UniSTS

REN89770

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,714,656 - 153,714,923	UniSTS	GRCh37
Build 36	X	153,367,850 - 153,368,117	RGD	NCBI36
Celera	X	153,875,707 - 153,875,974	RGD
Cytogenetic Map	X	q28	UniSTS

REN89771

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,714,688 - 153,714,924	UniSTS	GRCh37
Build 36	X	153,367,882 - 153,368,118	RGD	NCBI36
Celera	X	153,875,739 - 153,875,975	RGD
Cytogenetic Map	X	q28	UniSTS

REN89772

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,715,207 - 153,715,440	UniSTS	GRCh37
Build 36	X	153,368,401 - 153,368,634	RGD	NCBI36
Celera	X	153,876,258 - 153,876,491	RGD
Cytogenetic Map	X	q28	UniSTS

REN89773

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,715,392 - 153,715,651	UniSTS	GRCh37
Build 36	X	153,368,586 - 153,368,845	RGD	NCBI36
Celera	X	153,876,443 - 153,876,702	RGD
Cytogenetic Map	X	q28	UniSTS

REN89774

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,715,642 - 153,715,881	UniSTS	GRCh37
Build 36	X	153,368,836 - 153,369,075	RGD	NCBI36
Celera	X	153,876,693 - 153,876,932	RGD
Cytogenetic Map	X	q28	UniSTS

REN89775

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,715,858 - 153,716,128	UniSTS	GRCh37
Build 36	X	153,369,052 - 153,369,322	RGD	NCBI36
Celera	X	153,876,909 - 153,877,179	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,292,962 - 142,293,232	UniSTS

REN89776

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,716,106 - 153,716,379	UniSTS	GRCh37
Build 36	X	153,369,300 - 153,369,573	RGD	NCBI36
Celera	X	153,877,157 - 153,877,430	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,293,210 - 142,293,483	UniSTS

REN89777

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,716,327 - 153,716,583	UniSTS	GRCh37
Build 36	X	153,369,521 - 153,369,777	RGD	NCBI36
Celera	X	153,877,378 - 153,877,634	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,293,431 - 142,293,687	UniSTS

REN89778

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,716,560 - 153,716,806	UniSTS	GRCh37
Build 36	X	153,369,754 - 153,370,000	RGD	NCBI36
Celera	X	153,877,611 - 153,877,857	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,293,664 - 142,293,910	UniSTS

stSG604086

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,009 - 153,713,142	UniSTS	GRCh37
Build 36	X	153,365,203 - 153,366,336	RGD	NCBI36
Celera	X	153,873,060 - 153,874,193	RGD

stSG604087

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,713,123 - 153,714,306	UniSTS	GRCh37
Build 36	X	153,366,317 - 153,367,500	RGD	NCBI36
Celera	X	153,874,174 - 153,875,357	RGD
Cytogenetic Map	X	q28	UniSTS

UBL4_8788

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,282 - 153,713,139	UniSTS	GRCh37
Build 36	X	153,365,476 - 153,366,333	RGD	NCBI36
Celera	X	153,873,333 - 153,874,190	RGD

STS-J03589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,711,947 - 153,712,069	UniSTS	GRCh37
Build 36	X	153,365,141 - 153,365,263	RGD	NCBI36
Celera	X	153,872,998 - 153,873,120	RGD
Cytogenetic Map	X	q28	UniSTS
GeneMap99-GB4 RH Map	X	350.95	UniSTS

WI-12102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,712,099 - 153,712,250	UniSTS	GRCh37
Build 36	X	153,365,293 - 153,365,444	RGD	NCBI36
Celera	X	153,873,150 - 153,873,301	RGD
Cytogenetic Map	X	q28	UniSTS
GeneMap99-GB4 RH Map	X	353.15	UniSTS
Whitehead-RH Map	X	326.4	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	4464
Count of miRNA genes:	1095
Interacting mature miRNAs:	1343
Transcripts:	ENST00000369653, ENST00000369660, ENST00000417913, ENST00000421431, ENST00000477777, ENST00000481237
Prediction methods:	Microtar, 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.

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

2431

2684

1678

582

1683

423

4352

2127

3576

404

1223

1608

174

1186

2787

Low

307

268

158

236

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_014235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC244090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000405	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293227	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC020254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC043346	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC053589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM711450	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX664739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CK826435	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA012854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DR003955	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	J03589	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L44140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M35604	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000369653 ⟹ ENSP00000358667

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,485,193 - 154,486,615 (-)	Ensembl

RefSeq Acc Id:

ENST00000369660 ⟹ ENSP00000358674

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,483,717 - 154,486,615 (-)	Ensembl

RefSeq Acc Id:

ENST00000417913 ⟹ ENSP00000397223

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,485,376 - 154,486,586 (-)	Ensembl

RefSeq Acc Id:

ENST00000421431

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,484,283 - 154,486,612 (-)	Ensembl

RefSeq Acc Id:

ENST00000477777

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,485,353 - 154,486,102 (-)	Ensembl

RefSeq Acc Id:

ENST00000481237

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,486,042 - 154,486,584 (-)	Ensembl

RefSeq Acc Id:

ENST00000630530 ⟹ ENSP00000486867

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,485,926 - 154,486,584 (-)	Ensembl

RefSeq Acc Id:

NM_014235 ⟹ NP_055050

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,483,717 - 154,486,615 (-)	NCBI
GRCh37	X	153,712,056 - 153,714,932 (-)	RGD
Build 36	X	153,365,250 - 153,368,126 (-)	NCBI Archive
Celera	X	153,873,107 - 153,875,983 (-)	RGD
HuRef	X	142,288,568 - 142,290,380 (-)	ENTREZGENE
CHM1_1	X	153,623,701 - 153,626,654 (-)	NCBI

Sequence:

show sequence

GGTTCCAGCGCGCGCCCGGGGCGGCGGCGCGCGGCGGGGGGTGGTTGGGGTGCGCGCCGGCCCG
AGTGGACGCCGTCGCGACCGCCATGCAGCTGACGGTGAAGGCGCTGCAGGGCCGCGAGTGCAGC
CTGCAGGTGCCAGAGGACGAGCTGGTGTCCACGCTGAAGCAGCTGGTCTCCGAGAAGCTGAACG
TCCCAGTGCGCCAGCAGCGGCTGCTGTTCAAGGGCAAGGCCCTGGCAGATGGGAAACGACTCTC
GGATTATAGCATCGGGCCCAACTCCAAGCTCAACCTAGTGGTCAAACCCCTGGAGAAGGTGCTA
CTAGAAGAAGGCGAGGCCCAGAGGCTGGCCGACTCCCCACCCCCGCAGGTCTGGCAGCTGATCT
CCAAAGTCTTGGCCCGCCACTTCAGTGCGGCAGATGCCAGCAGGGTCCTGGAACAGCTACAGAG
GGATTACGAGAGGTCCCTGAGTCGCCTGACGCTGGACGACATCGAACGGTTGGCCAGCCGCTTC
CTGCACCCTGAAGTGACTGAGACAATGGAGAAGGGCTTCTCCAAATAGAATTCTCGGAGCATGG
GGAGGTGCCCAACGCCAGGCTACCGCTGCATGTCGCACTAAGTGTGTTCTCCTGTTGCAGTTGG
GCTCATCATCATCATAGCTGGCATGTACCTGGCTCTGGCCAGGTGCTAGGCACTCCTCACAGCT
TGACCTGGGTTTGCTTCCACACCCTCAGAAGAGGAGAGCCGGCACAGCAGAGGCACCGGCGATG
AAGTGGCACAGCCCCAGTCGGAATCCAGCGGCTTCTGAAAGTGCCTTGGTGTGAGAAGGAGGAA
GGGGCCGCTTGGAGAGCTGGGCTCTCGCATGTCATGTTTAGCCCACTGAGAATATACCCTCAGG
TGACTCCCTCCCGATCCTGAAAGGGAAAGCAGCTGTCACCTGACTTCTGGCGGGTCCAACATAG
CCCTCAGCTTACCTCTGCAGGAGGCCAAGTGACAGCCAGCCCTGGAACCCCCCGACCCCCGCAG
CTGCTGCAGCCAGTGTGCCAGTGTGCGTTCGACAAATGGAAAAGCAGATTGGGGCCAGGGAGTC
AGCAAGGCACCCCAGCTCTGTGATGTGACTTTGGGCGAGTCTCAGTGCCACTTGGTCCCCAGCC
ATGGACTCTATACAGTGAGGGCCACTCACCGACCTGAGTCAGTGTCCTCTGTCTCACAGGGCCC
CTCTCCCTTCTGTTCAGTAAACAAACTGAAGCCAAAAATGAAGCCGTGGCCAAGTGTGACCCAG
AGATGGGGTGTCCTGGCCCTTAGTGACACAGCTCCTCTCTGGGGCACCCTATCTGCTTGTCTCG
TCCAGGAAGCGTTAGGGCTGATGGGTGACTCAGCAAGGCAGTGTCAGAGCTGGGACTGGGCGTA
GGCCTTTGTCCTCATCCCCAGCACTGGCCTCCCTGTGGAAGATGAACATATCCCAGCCACCTGT
GTACAGGGGCTCACTTTGTGTGCTCCTTGTTGCCTGAGAAGAAACCTTGGGGTGCCAGGGTGGG
GGCAGAAGCATGGACTGGGTTCCGGTTCATCCTCCTCCACCCTGCCGTGTGTGTGGGCACAAGA
GGACATCTAACCACCTGCTCCTTGGAGGAGGCCCCCAGGGGTGGTAGAGGCTGGAAGGAAGCCA
CATCAGGAGGACGCCACTCCGGCCCTTCACCCTTGCCAAGTGAGCTGCTCACAGTGTGGTCAGG
GCTGCGCGTGCTGGAGGCCCTCCTGCCTGGGCCTTGTGGGGCAAATATTGGGTCCCCAGGCTGG
AAAGATGGACAGAGGCCCAATGGGTGAAGGCTTTGAAGAGCACACAGAAGCCCCTGGCCCCCCA
CGAGAGCTGGAGAGCCATGTATATGGCTTCAAAGCCACCTACGGCAGGGACACACTCGTGAGCA
TGTGTGGCCTGCAGTTCAGGTGATACATTTACCAGTGTTCTTGTTTGTGTGGTGCCAGGAAATT
GATTTTGGAAAAAGTGAAATAACATTAAAGGTGAATGTGAGGCTTCTACTTTTATCCAAAAGGA
GCTATATTAGCTAGGCTGTTTCTGATATCCAATCATTGGTTTAACAATAAAGGCAATTTGTTTA
ATCAGTTAACGGAAATTTCTTGGCTTATGAAAGTGAAAAGTCCAGTGGTATTGGCATTGGCAGC
AGGTGAGCAATTTCACCCAGTGTCTTCTGCCTCCCTCTGCGTTGGTATCTGCTACATCCCAGGC
CACCACCTCCGAGGATGAAAAGATGGCTGCCTGCAGCTTCCACGGAATCCCTCCCTCACTGCCA
GAGCAGCATCTTCTCTGTGTACCACCTCTGCTGTCTCAGATGCCCCCAGCAAATAAACACTCTT
CTCGTTGGTCAGAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_055050	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA36790	(Get FASTA)	NCBI Sequence Viewer
	AAA92650	(Get FASTA)	NCBI Sequence Viewer
	AAH43346	(Get FASTA)	NCBI Sequence Viewer
	AAH53589	(Get FASTA)	NCBI Sequence Viewer
	BAG56766	(Get FASTA)	NCBI Sequence Viewer
	EAW72700	(Get FASTA)	NCBI Sequence Viewer
	P11441	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_055050 ⟸ NM_014235
- UniProtKB:	P11441 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MQLTVKALQGRECSLQVPEDELVSTLKQLVSEKLNVPVRQQRLLFKGKALADGKRLSDYSIGPN SKLNLVVKPLEKVLLEEGEAQRLADSPPPQVWQLISKVLARHFSAADASRVLEQLQRDYERSLS RLTLDDIERLASRFLHPEVTETMEKGFSK hide sequence

RefSeq Acc Id:

ENSP00000397223 ⟸ ENST00000417913

RefSeq Acc Id:

ENSP00000358674 ⟸ ENST00000369660

RefSeq Acc Id:

ENSP00000358667 ⟸ ENST00000369653

RefSeq Acc Id:

ENSP00000486867 ⟸ ENST00000630530

Protein Domains

Ubiquitin-like

Promoters

RGD ID:

6815709

Promoter ID:

HG_MRA:17419

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

M35604

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,366,056 - 153,366,556 (-)	MPROMDB

RGD ID:

6809355

Promoter ID:

HG_KWN:68666

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000037238, OTTHUMT00000037239, OTTHUMT00000037240, OTTHUMT00000037241, OTTHUMT00000316173, OTTHUMT00000320638

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,367,556 - 153,368,647 (-)	MPROMDB

RGD ID:

6853648

Promoter ID:

EP28011

Type:

single initiation site

Name:

HS_UBL4

Description:

[X-linked gene downstream of G6PD gene], GDX gene.

SO ACC ID:

SO:0000170

Source:

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

Tissues & Cell Lines:

housekeeping gene

Experiment Methods:

Nuclease protection; Sequencing of a full-length cDNA

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,368,152 - 153,368,212	EPD

RGD ID:

13628636

Promoter ID:

EPDNEW_H29556

Type:

initiation region

Name:

UBL4A_2

Description:

ubiquitin like 4A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29558

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,486,599 - 154,486,659	EPDNEW

RGD ID:

13628640

Promoter ID:

EPDNEW_H29558

Type:

initiation region

Name:

UBL4A_1

Description:

ubiquitin like 4A

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29556

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,487,823 - 154,487,883	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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 Xq28(chrX:150036146-156022206)x3	copy number gain	See cases [RCV000050946]	ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28	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 Xq28(chrX:149989929-156022206)x3	copy number gain	See cases [RCV000050657]	ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28	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 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 Xq27.3-28(chrX:145879711-156022206)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|See cases [RCV000051747]	ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq28(chrX:153296806-155699618)x1	copy number loss	See cases [RCV000051750]	ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28	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 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	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 Xq26.3-28(chrX:136956500-156020993)x1	copy number loss	See cases [RCV000051732]	ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28	pathogenic
GRCh38/hg38 Xq28(chrX:154394598-154554969)x1	copy number loss	See cases [RCV000051760]	ChrX:154394598..154554969 [GRCh38] ChrX:153622940..153783184 [GRCh37] ChrX:153276134..153436378 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-155998166)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|See cases [RCV000051746]	ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28	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 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 Xq28(chrX:153932045-155611794)x3	copy number gain	See cases [RCV000052529]	ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|See cases [RCV000052490]	ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	copy number gain	See cases [RCV000052491]	ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2	copy number gain	See cases [RCV000052471]	ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2	copy number gain	See cases [RCV000052474]	ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3	copy number gain	See cases [RCV000052475]	ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28	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 Xq28(chrX:154336596-154642063)x2	copy number gain	See cases [RCV000054320]	ChrX:154336596..154642063 [GRCh38] ChrX:153564946..153870337 [GRCh37] ChrX:153218140..153523531 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2	copy number gain	See cases [RCV000054321]	ChrX:154348522..154594454 [GRCh38] ChrX:153576890..153822717 [GRCh37] ChrX:153230084..153475911 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	copy number gain	See cases [RCV000054322]	ChrX:154394598..154626056 [GRCh38] ChrX:153622940..153854307 [GRCh37] ChrX:153276134..153507501 [NCBI36] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153576750-154563104)x1	copy number loss	See cases [RCV000663390]	ChrX:153576750..154563104 [GRCh37] ChrX:Xq28	pathogenic
NM_019848.4(SLC10A3):c.1237C>A (p.Gln413Lys)	single nucleotide variant	Malignant melanoma [RCV000063953]	ChrX:154487704 [GRCh38] ChrX:153716043 [GRCh37] ChrX:153369237 [NCBI36] ChrX:Xq28	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 Xq27.1-28(chrX:139333024-155978689)x1	copy number loss	See cases [RCV000133818]	ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28	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)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: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 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 Xq27.3-28(chrX:144627217-155434735)x3	copy number gain	See cases [RCV000133725]	ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28	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 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 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 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 Xq28(chrX:153296806-154604471)x2	copy number gain	See cases [RCV000135451]	ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28	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 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 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	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 Xq27.1-28(chrX:140783390-155611114)x2	copy number gain	See cases [RCV000135881]	ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28	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 Xq27.2-28(chrX:141650284-156022206)x1	copy number loss	See cases [RCV000136912]	ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28	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 Xq28(chrX:153322656-155522304)x2	copy number gain	See cases [RCV000136716]	ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28	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 Xq28(chrX:151750863-155522304)x1	copy number loss	See cases [RCV000136718]	ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28	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 Xq28(chrX:153276277-156003242)x3	copy number gain	See cases [RCV000137498]	ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28	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 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 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 Xq26.3-28(chrX:137118983-156003242)x1	copy number loss	See cases [RCV000137257]	ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
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 Xq27.3-28(chrX:143553831-156003229)x1	copy number loss	See cases [RCV000138679]	ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28	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 Xq28(chrX:153727116-154555423)x2	copy number gain	See cases [RCV000138393]	ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28	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 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 Xq21.1-28(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 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 Xq28(chrX:154348522-154770053)x2	copy number gain	See cases [RCV000140492]	ChrX:154348522..154770053 [GRCh38] ChrX:153576890..153998328 [GRCh37] ChrX:153230084..153651522 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139530928-156003229)x1	copy number loss	See cases [RCV000139724]	ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28	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 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	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 Xq28(chrX:148951460-155434653)x2	copy number gain	See cases [RCV000143002]	ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28	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: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 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [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 Xq28(chrX:153627408-154089925)x2	copy number gain	See cases [RCV000240046]	ChrX:153627408..154089925 [GRCh37] ChrX:Xq28	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 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 Xq27.3-28(chrX:142174780-155250222)x2	copy number gain	See cases [RCV000240530]	ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28	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 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	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: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 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xq28(chrX:152228560-154930047)x2	copy number gain	See cases [RCV000447331]	ChrX:152228560..154930047 [GRCh37] ChrX:Xq28	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: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 Xq28(chrX:150253008-155233731)x1	copy number loss	See cases [RCV000446761]	ChrX:150253008..155233731 [GRCh37] ChrX:Xq28	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 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	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 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2	copy number gain	See cases [RCV000510478]	ChrX:151201777..154741703 [GRCh37] ChrX:Xq28	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 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
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 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:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	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 Xq28(chrX:151963528-155233731)x1	copy number loss	See cases [RCV000510866]	ChrX:151963528..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1	copy number loss	See cases [RCV000510920]	ChrX:151311551..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	copy number gain	See cases [RCV000511034]	ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
NC_000023.10:g.(?_153295726)_(153786885_?)dup	duplication	Severe neonatal-onset encephalopathy with microcephaly [RCV000645139]	ChrX:153295726..153786885 [GRCh37] ChrX:Xq28	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 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:138331745-155233731)x1	copy number loss	not provided [RCV000684397]	ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	copy number loss	not provided [RCV000684401]	ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	copy number gain	not provided [RCV000684402]	ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28	pathogenic
GRCh37/hg19 Xq28(chrX:153581543-153858492)x2	copy number gain	not provided [RCV000684413]	ChrX:153581543..153858492 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4	copy number gain	not provided [RCV000684414]	ChrX:153621005..153868484 [GRCh37] ChrX:Xq28	uncertain significance
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
GRCh37/hg19 Xq28(chrX:153560741-153761134)x2	copy number gain	not provided [RCV000684744]	ChrX:153560741..153761134 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3	copy number gain	not provided [RCV000684745]	ChrX:153560741..153858492 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153609873-153815499)x3	copy number gain	not provided [RCV000847592]	ChrX:153609873..153815499 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq27.1-28(chrX:138750575-155246749)x1	copy number loss	not provided [RCV000753810]	ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:153675171-153717512)x3	copy number gain	not provided [RCV000753939]	ChrX:153675171..153717512 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1	copy number loss	not provided [RCV000753815]	ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28	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
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_014235.5(UBL4A):c.222G>A (p.Leu74=)	single nucleotide variant	not provided [RCV000950305]	ChrX:154485912 [GRCh38] ChrX:153714251 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	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)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NC_000023.10:g.(?_152954020)_(154096327_?)del	deletion	Adrenoleukodystrophy [RCV000815921]	ChrX:152954020..154096327 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153566612-153731506)x2	copy number gain	not provided [RCV000847027]	ChrX:153566612..153731506 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2	copy number gain	not provided [RCV000845970]	ChrX:153556428..153868487 [GRCh37] ChrX:Xq28	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:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	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 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	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 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely 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 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

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12505	AgrOrtholog
COSMIC	UBL4A	COSMIC
Ensembl Genes	ENSG00000102178	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000358667	UniProtKB/TrEMBL
	ENSP00000358674	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000397223	UniProtKB/TrEMBL
	ENSP00000486867	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000369653	UniProtKB/TrEMBL
	ENST00000369660	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000417913	UniProtKB/TrEMBL
	ENST00000630530	UniProtKB/TrEMBL
GTEx	ENSG00000102178	GTEx
HGNC ID	HGNC:12505	ENTREZGENE
Human Proteome Map	UBL4A	Human Proteome Map
InterPro	Ubiquitin	UniProtKB/Swiss-Prot
	Ubiquitin-like_dom	UniProtKB/TrEMBL
	Ubiquitin-like_domsf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ubiquitin_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ubiquitin_dom	UniProtKB/Swiss-Prot
	Ubiquitin_dom	UniProtKB/TrEMBL
	Ubl4_C_TUGS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:8266	UniProtKB/Swiss-Prot
NCBI Gene	8266	ENTREZGENE
OMIM	312070	OMIM
Pfam	Tugs	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ubiquitin	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37152	PharmGKB
PRINTS	UBIQUITIN	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE	UBIQUITIN_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	UBIQUITIN_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	UBQ	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF54236	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	F8WB70_HUMAN	UniProtKB/TrEMBL
	F8WCT8_HUMAN	UniProtKB/TrEMBL
	P11441	ENTREZGENE
	Q5HY81_HUMAN	UniProtKB/TrEMBL
	UBL4A_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	Q5HY80	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-12-08	UBL4A	ubiquitin like 4A		ubiquitin-like 4A	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - ClinVar