SMS (spermine synthase) - Rat Genome Database

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

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Gene: SMS (spermine synthase) Homo sapiens

Analyze

Symbol:

SMS

Name:

spermine synthase

RGD ID:

1345734

HGNC Page

HGNC

Description:

Predicted to have spermine synthase activity. Predicted to be involved in spermine biosynthetic process. Localizes to extracellular exosome. Implicated in syndromic X-linked intellectual disability Snyder type.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

MRSR; Snyder-Robinson X-linked mental retardation syndrome; spermidine aminopropyltransferase; SPMSY; SpS; SRS

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):	Sms (spermine synthase)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Sms (spermine synthase)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Sms (spermine synthase)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SMS (spermine synthase)	NCBI	Ortholog
Canis lupus familiaris (dog):	SMS (spermine synthase)	HGNC	EggNOG, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Sms (spermine synthase)	NCBI	Ortholog
Sus scrofa (pig):	SMS (spermine synthase)	HGNC	EggNOG, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	SMS (spermine synthase)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Sms (spermine synthase)	NCBI	Ortholog
Other homologs ²
Mus musculus (house mouse):	Sms-ps (spermine synthase, pseudogene)	HGNC	HomoloGene, OrthoDB
Alliance orthologs ³
Mus musculus (house mouse):	Sms (spermine synthase)	Alliance	DIOPT (HGNC\|TreeFam)
Rattus norvegicus (Norway rat):	Sms (spermine synthase)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|TreeFam)
Mus musculus (house mouse):	Sms-ps (spermine synthase, pseudogene)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Danio rerio (zebrafish):	sms (spermine synthase)	Alliance	DIOPT (PhylomeDB\|TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	Sms	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)

Related Pseudogenes:

LOC100132039 LOC100419037 LOC642590 LOC646347 SMSP1

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	21,940,709 - 21,994,837 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	21,940,709 - 21,994,837 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	21,958,827 - 22,012,955 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	21,868,763 - 21,922,876 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	21,718,498 - 21,772,611	NCBI
Celera	X	26,079,796 - 26,133,909 (+)	NCBI
Cytogenetic Map	X	p22.11	NCBI
HuRef	X	19,699,279 - 19,753,795 (+)	NCBI		HuRef
CHM1_1	X	21,989,118 - 22,043,385 (+)	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

autistic disorder (IAGP)

genetic disease (IAGP)

intellectual disability (IAGP)

Neurodevelopmental Disorders (IAGP)

rheumatoid arthritis (EXP)

Smith-Magenis syndrome (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

syndromic X-linked intellectual disability Snyder type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,1-dichloroethene (ISO)

1,2-dichloroethane (ISO)

17beta-hydroxy-17-methylestra-4,9,11-trien-3-one (EXP)

17beta-hydroxy-5alpha-androstan-3-one (EXP)

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

2-hydroxypropanoic acid (EXP)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4,4'-diaminodiphenylmethane (ISO)

5-fluorouracil (EXP)

6-propyl-2-thiouracil (ISO)

6alpha-methylprednisolone (EXP)

aflatoxin B2 (EXP)

arsenous acid (EXP)

atrazine (EXP)

azathioprine (EXP)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (EXP,ISO)

bisphenol A (EXP)

cadmium dichloride (EXP)

carbon nanotube (ISO)

chloropicrin (EXP)

dexamethasone (EXP)

diarsenic trioxide (EXP)

ethanol (ISO)

folic acid (ISO)

furan (ISO)

indometacin (EXP)

methotrexate (EXP)

methyl methanesulfonate (EXP)

N-nitrosodiethylamine (ISO)

oxaliplatin (ISO)

paracetamol (ISO)

pirinixic acid (ISO)

piroxicam (EXP)

prednisolone (EXP)

propiconazole (ISO)

rac-lactic acid (EXP)

sodium arsenite (EXP)

sodium aurothiomalate (EXP)

sunitinib (EXP)

T-2 toxin (EXP)

tetrahydropalmatine (EXP)

topotecan (ISO)

triphenyl phosphate (ISO)

triptonide (ISO)

valproic acid (EXP)

vancomycin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

methionine metabolic process (TAS)

polyamine metabolic process (TAS)

spermine biosynthetic process (IBA,IEA,ISO)

spermine metabolic process (ISO)

Cellular Component

cytosol (TAS)

extracellular exosome (HDA)

Molecular Function

spermine synthase activity (IBA,IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

arginine and proline metabolic pathway (IEA)

beta-alanine metabolic pathway (IEA)

cysteine and methionine metabolic pathway (IEA)

glutathione metabolic pathway (IEA)

methionine cycle/metabolic pathway (TAS)

polyamine metabolic pathway (TAS)

spermidine metabolic pathway (EXP)

spermine metabolic pathway (EXP,ISO,TAS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of the Leydig cells (IAGP)

Abnormality of the pinna (IAGP)

Absent speech (IAGP)

Anteverted nares (IAGP)

Arachnodactyly (IAGP)

Asymmetry of the ears (IAGP)

Bifid uvula (IAGP)

Brachycephaly (IAGP)

Broad-based gait (IAGP)

Bulbous nose (IAGP)

Camptodactyly (IAGP)

Cerebral edema (IAGP)

Cleft palate (IAGP)

Cryptorchidism (IAGP)

Cupped ear (IAGP)

Decreased muscle mass (IAGP)

Dental crowding (IAGP)

Difficulty standing (IAGP)

Disproportionate tall stature (IAGP)

Dysarthria (IAGP)

Ectopic kidney (IAGP)

EEG abnormality (IAGP)

Everted lower lip vermilion (IAGP)

Facial asymmetry (IAGP)

Focal motor seizure (IAGP)

Generalized hypotonia (IAGP)

Generalized myoclonic seizure (IAGP)

High myopia (IAGP)

High palate (IAGP)

High, narrow palate (IAGP)

Hyperextensibility of the finger joints (IAGP)

Hypertelorism (IAGP)

Hypospadias (IAGP)

Hypotonia (IAGP)

Inability to walk (IAGP)

Infantile muscular hypotonia (IAGP)

Intellectual disability (IAGP)

Intellectual disability, mild (IAGP)

Intellectual disability, profound (IAGP)

Kyphoscoliosis (IAGP)

Long face (IAGP)

Long fingers (IAGP)

Long hallux (IAGP)

Long palm (IAGP)

Long toe (IAGP)

Low-set ears (IAGP)

Mandibular prognathia (IAGP)

Megalencephaly (IAGP)

Myoclonus (IAGP)

Narrow face (IAGP)

Narrow mouth (IAGP)

Narrow palm (IAGP)

Nasal speech (IAGP)

Osteoporosis (IAGP)

Patchy hypo- and hyperpigmentation (IAGP)

Pectus carinatum (IAGP)

Pectus excavatum (IAGP)

Prominent nasal bridge (IAGP)

Proptosis (IAGP)

Recurrent fractures (IAGP)

Schizophrenia (IAGP)

Seizure (IAGP)

Short philtrum (IAGP)

Short stature (IAGP)

Slender toe (IAGP)

Small earlobe (IAGP)

Smooth philtrum (IAGP)

Sparse eyebrow (IAGP)

Synophrys (IAGP)

Talipes equinovarus (IAGP)

Tall stature (IAGP)

Testicular atrophy (IAGP)

Thick lower lip vermilion (IAGP)

Thickened helices (IAGP)

Unilateral ptosis (IAGP)

Unsteady gait (IAGP)

Upslanted palpebral fissure (IAGP)

Webbed neck (IAGP)

Wide intermamillary distance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated


1.	Eloranta TO, etal., J Biochem. 1990 Oct;108(4):593-8.
2.	GOA_HUMAN data from the GO Consortium
3.	Lu SC and Mato JM, Physiol Rev. 2012 Oct;92(4):1515-42. doi: 10.1152/physrev.00047.2011.
4.	OMIM Disease Annotation Pipeline
5.	Pipeline to import KEGG annotations from KEGG into RGD
6.	Pipeline to import SMPDB annotations from SMPDB into RGD
7.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	RGD automated import pipeline for gene-chemical interactions
9.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10.	Wallace HM, etal., Biochem J. 2003 Nov 15;376(Pt 1):1-14.

Additional References at PubMed

PMID:5823961	PMID:7546290	PMID:8826448	PMID:9299240	PMID:9847074	PMID:12477932	PMID:12665801	PMID:14508504	PMID:15489334	PMID:15592455	PMID:15772651	PMID:16169070
PMID:18367445	PMID:18550699	PMID:19206178	PMID:19277733	PMID:19322201	PMID:20059804	PMID:21152090	PMID:21318891	PMID:21647366	PMID:21873635	PMID:21900206	PMID:22258329
PMID:22863883	PMID:22939629	PMID:23376485	PMID:23408511	PMID:23455922	PMID:23468611	PMID:23533145	PMID:23696453	PMID:23805436	PMID:25921289	PMID:26344197	PMID:26496610
PMID:26761001	PMID:28675297	PMID:29791485	PMID:29955894	PMID:30021884	PMID:30575818	PMID:30733278	PMID:32416067	PMID:32591507	PMID:32694731	PMID:32838743

Genomics

Comparative Map Data

SMS
(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	21,940,709 - 21,994,837 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	21,940,709 - 21,994,837 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	21,958,827 - 22,012,955 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	21,868,763 - 21,922,876 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	21,718,498 - 21,772,611	NCBI
Celera	X	26,079,796 - 26,133,909 (+)	NCBI
Cytogenetic Map	X	p22.11	NCBI
HuRef	X	19,699,279 - 19,753,795 (+)	NCBI		HuRef
CHM1_1	X	21,989,118 - 22,043,385 (+)	NCBI		CHM1_1

Sms
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	156,226,847 - 156,275,283 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	156,226,851 - 156,275,283 (-)	Ensembl
GRCm38	X	157,443,851 - 157,492,287 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	157,443,855 - 157,492,287 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	153,881,886 - 153,929,978 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	152,788,059 - 152,836,139 (-)	NCBI			mm8
Celera	X	140,696,273 - 140,722,448 (-)	NCBI		Celera
Cytogenetic Map	X	F4	NCBI
cM Map	X	72.48	NCBI

Sms
(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	37,516,949 - 37,572,657 (+)	NCBI
Rnor_6.0 Ensembl	X	40,363,646 - 40,415,109 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	40,363,646 - 40,415,110 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	40,674,244 - 40,725,968 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	58,816,210 - 58,870,980 (+)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	X	38,144,381 - 38,195,833 (+)	NCBI		Celera
Cytogenetic Map	X	q21	NCBI

Sms
(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_004955509	2,276,878 - 2,329,620 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955509	2,277,501 - 2,328,612 (+)	NCBI	ChiLan1.0	ChiLan1.0

SMS
(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	21,952,477 - 21,980,209 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	X	14,571,432 - 14,625,601 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

SMS
(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	17,749,020 - 17,803,351 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	17,749,530 - 17,802,999 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	17,724,469 - 17,762,827 (+)	NCBI
UMICH_Zoey_3.1	X	17,741,907 - 17,796,615 (+)	NCBI
UNSW_CanFamBas_1.0	X	17,763,366 - 17,818,317 (+)	NCBI
UU_Cfam_GSD_1.0	X	17,823,900 - 17,878,940 (+)	NCBI

Sms
(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	10,755,764 - 10,814,207 (+)	NCBI
SpeTri2.0	NW_004936624	2,345,573 - 2,402,157 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SMS
(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	18,118,468 - 18,169,396 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	18,118,332 - 18,169,396 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	19,300,734 - 19,353,814 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SMS
(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	20,418,435 - 20,475,227 (+)	NCBI
ChlSab1.1 Ensembl	X	20,418,494 - 20,476,276 (+)	Ensembl
Vero_WHO_p1.0	NW_023666056	22,273,775 - 22,330,746 (+)	NCBI

Sms
(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_004624829	6,883,018 - 6,931,646 (+)	NCBI

Position Markers

DXS7924

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	21,964,720 - 21,964,819	UniSTS	GRCh37
Build 36	X	21,874,641 - 21,874,740	RGD	NCBI36
Celera	X	26,085,675 - 26,085,774	RGD
Cytogenetic Map	X	p22.1	UniSTS
HuRef	X	19,705,493 - 19,705,592	UniSTS

SMS_8632

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	6	71,317,471 - 71,318,315	UniSTS	GRCh37
GRCh37	1	160,865,491 - 160,866,339	UniSTS	GRCh37
Build 36	1	159,132,115 - 159,132,963	RGD	NCBI36
Celera	1	133,933,683 - 133,934,531	RGD
Celera	6	71,705,885 - 71,706,729	UniSTS
HuRef	6	68,515,624 - 68,516,468	UniSTS
HuRef	1	132,221,806 - 132,222,654	UniSTS

L47638

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	22,012,363 - 22,012,538	UniSTS	GRCh37
Build 36	X	21,922,284 - 21,922,459	RGD	NCBI36
Celera	X	26,133,317 - 26,133,492	RGD
Cytogenetic Map	X	p22.1	UniSTS
HuRef	X	19,753,203 - 19,753,378	UniSTS

WI-17538

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	21,990,048 - 21,990,148	UniSTS	GRCh37
Build 36	X	21,899,969 - 21,900,069	RGD	NCBI36
Celera	X	26,111,001 - 26,111,101	RGD
Cytogenetic Map	X	p22.1	UniSTS
HuRef	X	19,730,872 - 19,730,972	UniSTS
GeneMap99-GB4 RH Map	X	97.2	UniSTS
Whitehead-RH Map	X	18.1	UniSTS
NCBI RH Map	X	43.0	UniSTS

DXS7528

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	21,979,316 - 21,979,540	UniSTS	GRCh37
Build 36	X	21,889,237 - 21,889,461	RGD	NCBI36
Celera	X	26,100,269 - 26,100,493	RGD
Cytogenetic Map	X	p22.1	UniSTS
HuRef	X	19,720,094 - 19,720,318	UniSTS
Whitehead-RH Map	X	18.2	UniSTS
Whitehead-YAC Contig Map	X		UniSTS
NCBI RH Map	X	43.0	UniSTS

G19647

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p22.1	UniSTS

A001U03

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	p22.1	UniSTS
GeneMap99-GB4 RH Map	6	306.13	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1027
Count of miRNA genes:	699
Interacting mature miRNAs:	796
Transcripts:	ENST00000379404, ENST00000404933, ENST00000415881, ENST00000457085, ENST00000478094
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

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	2		3	2		2	4	1	1	1	3	7
Medium	2429	2598	1669	570	1663	412	4296	2046	3633	416	1445	1599	172		1204	2737	4
Low	8	392	54	52	287	51	56	150	99	2	11	7	3	1		51	1	2
Below cutoff		1			1				1

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_009228	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001258423	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004595	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005274582	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545568	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029753	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029754	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029755	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452427	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AD001528	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293455	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313834	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009898	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC085621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U53331	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U72789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U73023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z49099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000379404 ⟹ ENSP00000368714

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	21,940,715 - 21,994,473 (+)	Ensembl

RefSeq Acc Id:

ENST00000404933 ⟹ ENSP00000385746

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	21,940,709 - 21,994,837 (+)	Ensembl

RefSeq Acc Id:

ENST00000457085 ⟹ ENSP00000407366

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	21,941,045 - 21,978,111 (+)	Ensembl

RefSeq Acc Id:

ENST00000478094

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	21,940,778 - 21,977,989 (+)	Ensembl

RefSeq Acc Id:

NM_001258423 ⟹ NP_001245352

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,940,709 - 21,994,837 (+)	NCBI
GRCh37	X	21,958,691 - 22,025,798 (+)	NCBI
HuRef	X	19,699,279 - 19,753,795 (+)	NCBI
CHM1_1	X	21,989,118 - 22,043,385 (+)	NCBI

Sequence:

show sequence

GTTTCCACCATTAGCGAGGCCTCACACCCGGCGCTCCAAGTTCGGGGCTGGAGGCGTCCCGGCT
TCCTCCCTCCCGGAGCGGGACCGGCCCCGCCCCCGCGCCCCGGGTCGCTCCCGGCGGCCCCTCC
CACCTCCTAGTCCTGGCCTCCCCGGGCGCAGCACACTCCCAGCCGGCCGCAGCCTGACACGCCG
CGCGGCCCCCCAGTCTCCCGCGGCTGCTCCCCCAGGCATGGCACAGGGCCTCGCCTCACTATGG
CAGCAGCACGGCACAGCACGCTCGACTTCATGCTCGGCGCCAAAGCTGATGGTGAGACCATTCT
AAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCACACCTGGCAGGAC
CATGGCTATTTAGCAACCTACACAAACAAGAACGGCAGATTACCACCCATAGTGCGAGGAGGAG
CCATCGACAGATACTGGCCCACCGCCGACGGGCGCCTGGTTGAATATGACATAGATGAAGTGGT
ATATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAATATT
CTCATCCTTAGTGGGGATGTTAATTTGGCAGAGAGTGATTTGGCATATACCCGGGCCATCATGG
GCAGTGGCAAAGAAGATTACACTGGCAAAGATGTACTCATTCTGGGAGGTGGAGACGGAGGCAT
ATTGTGTGAAATAGTCAAACTAAAACCAAAGATGGTCACTATGGTAGAGATTGACCAAATGGTG
ATTGATGGGTGTAAGAAATACATGCGAAAAACGTGTGGCGATGTCTTAGACAATCTTAAAGGAG
ACTGCTATCAGGTTCTAATAGAAGACTGTATCCCGGTACTGAAGAGGTACGCCAAAGAAGGGAG
AGAATTTGATTATGTGATTAATGATTTGACAGCTGTTCCAATCTCCACGTCTCCAGAAGAAGAT
TCCACATGGGAGTTTCTCAGACTGATTCTTGACCTCTCAATGAAAGTGTTGAAACAGGATGGGA
AATATTTTACACAGGGGAACTGTGTCAATCTGACAGAAGCACTGTCGCTCTATGAAGAACAGCT
GGGGCGCCTGTATTGTCCTGTGGAATTTTCAAAGGAGATCGTCTGTGTCCCTTCATACTTGGAA
TTGTGGGTATTTTACACTGTTTGGAAGAAAGCTAAACCCTGAAGATCAGTAGCCCCTAATCACA
TGTGCTGCAAATAGCCTTCCTGACCTCCATATGCTGTACATGACATCAAAATGAGTCAGGCAAT
TGATTGTGAATTCCTTAAAGTTTTCCTTTTTTTAATAATTATTTTTAATTTAAAAAAGCAAATG
GAAAATGTATATTTTGATGAGCTTAGGGTGTTTTTTTTTTGAAAGTCAGCTGAAGGATGGTTAG
ACAGCACAGCGAAGACTGCTAAATGCACTGACCCCCCCCATTAGAATGTGATTTTTGTTCCTTT
TTATTTCTCTGTGGGCTTTTGTTTTTGTTTTTGTTTTGGTAGATCTTCAATTTGGATATTTGGA
GGAGTGAACATCGTTGTTTTGCTGGAGGGAAGATCTTGATGGTGTTTCTTTCCCCAAAAATTGA
CTTAGATATTAAAATTTGGTGCTTATAAGAGAGAGTTAAAAAAAAATAGGATTGCTTCAATTAA
AATTACAAAAGAGACA

hide sequence

RefSeq Acc Id:

NM_004595 ⟹ NP_004586

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,940,709 - 21,994,837 (+)	NCBI
GRCh37	X	21,958,691 - 22,025,798 (+)	NCBI
Build 36	X	21,868,763 - 21,922,876 (+)	NCBI Archive
HuRef	X	19,699,279 - 19,753,795 (+)	NCBI
CHM1_1	X	21,989,118 - 22,043,385 (+)	NCBI

Sequence:

show sequence

GTTTCCACCATTAGCGAGGCCTCACACCCGGCGCTCCAAGTTCGGGGCTGGAGGCGTCCCGGCT
TCCTCCCTCCCGGAGCGGGACCGGCCCCGCCCCCGCGCCCCGGGTCGCTCCCGGCGGCCCCTCC
CACCTCCTAGTCCTGGCCTCCCCGGGCGCAGCACACTCCCAGCCGGCCGCAGCCTGACACGCCG
CGCGGCCCCCCAGTCTCCCGCGGCTGCTCCCCCAGGCATGGCACAGGGCCTCGCCTCACTATGG
CAGCAGCACGGCACAGCACGCTCGACTTCATGCTCGGCGCCAAAGCTGATGGTGAGACCATTCT
AAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCACACCTGGCAGGAC
CATGGCTATTTAGCAACCTACACAAACAAGAACGGCAGCTTTGCCAATTTGAGAATTTACCCAC
ATGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGTGATGCGCAAGGCAAAGAAGAGATCGA
CAGTATTTTGAACAAAGTAGAGGAAAGAATGAAAGAATTGAGTCAGGACAGTACTGGGCGGGTG
AAACGATTACCACCCATAGTGCGAGGAGGAGCCATCGACAGATACTGGCCCACCGCCGACGGGC
GCCTGGTTGAATATGACATAGATGAAGTGGTATATGACGAAGATTCACCTTATCAAAATATAAA
AATTCTACACTCGAAGCAGTTTGGAAATATTCTCATCCTTAGTGGGGATGTTAATTTGGCAGAG
AGTGATTTGGCATATACCCGGGCCATCATGGGCAGTGGCAAAGAAGATTACACTGGCAAAGATG
TACTCATTCTGGGAGGTGGAGACGGAGGCATATTGTGTGAAATAGTCAAACTAAAACCAAAGAT
GGTCACTATGGTAGAGATTGACCAAATGGTGATTGATGGGTGTAAGAAATACATGCGAAAAACG
TGTGGCGATGTCTTAGACAATCTTAAAGGAGACTGCTATCAGGTTCTAATAGAAGACTGTATCC
CGGTACTGAAGAGGTACGCCAAAGAAGGGAGAGAATTTGATTATGTGATTAATGATTTGACAGC
TGTTCCAATCTCCACGTCTCCAGAAGAAGATTCCACATGGGAGTTTCTCAGACTGATTCTTGAC
CTCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTTTACACAGGGGAACTGTGTCAATCTGA
CAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCCTGTGGAATTTTCAAA
GGAGATCGTCTGTGTCCCTTCATACTTGGAATTGTGGGTATTTTACACTGTTTGGAAGAAAGCT
AAACCCTGAAGATCAGTAGCCCCTAATCACATGTGCTGCAAATAGCCTTCCTGACCTCCATATG
CTGTACATGACATCAAAATGAGTCAGGCAATTGATTGTGAATTCCTTAAAGTTTTCCTTTTTTT
AATAATTATTTTTAATTTAAAAAAGCAAATGGAAAATGTATATTTTGATGAGCTTAGGGTGTTT
TTTTTTTGAAAGTCAGCTGAAGGATGGTTAGACAGCACAGCGAAGACTGCTAAATGCACTGACC
CCCCCCATTAGAATGTGATTTTTGTTCCTTTTTATTTCTCTGTGGGCTTTTGTTTTTGTTTTTG
TTTTGGTAGATCTTCAATTTGGATATTTGGAGGAGTGAACATCGTTGTTTTGCTGGAGGGAAGA
TCTTGATGGTGTTTCTTTCCCCAAAAATTGACTTAGATATTAAAATTTGGTGCTTATAAGAGAG
AGTTAAAAAAAAATAGGATTGCTTCAATTAAAATTACAAAAGAGACAAAAAAAAAAAAAAAAAA
AAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005274582 ⟹ XP_005274639

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,959,623 - 21,994,837 (+)	NCBI

Sequence:

show sequence

AGAAACATCTGAACGTGGTTTTAAAGCAGCTACCTGATTTCAAATTGGATTGGAATCCAGTTTC
CTTTCCTCTTTTAGGTTTAGGGGTCTATCAAGAAAAATCAGAAAGCTGCTTTATGTGTGAAGGG
ACATTGTGCACAACCTGAGCCTGGCTGTCAGGTTATCTGACGTTAGGATCTGGGGTTTAGGGGA
AAGGATGCCTGCGTTTGTGCTTCCCCTTGCGGGGGAGTTGCAGACTGGCTCTATTGCCAGCCAG
CTCGCACACCATCTTCCCGTGGAGAGAGTGCAGATCCCTGAAAGGAGCAGGCAAGAAGGGGCCG
GGTATAAGCCTGACCAAAGGTGGGCCCTTGGACTTAGGTGGCAAGTGCTGATGGTGAGACCATT
CTAAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCACACCTGGCAGG
ACCATGGCTATTTAGCAACCTACACAAACAAGAACGGCAGCTTTGCCAATTTGAGAATTTACCC
ACATGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGTGATGCGCAAGGCAAAGAAGAGATC
GACAGTATTTTGAACAAAGTAGAGGAAAGAATGAAAGAATTGAGTCAGGACAGTACTGGGCGGG
TGAAACGATTACCACCCATAGTGCGAGGAGGAGCCATCGACAGATACTGGCCCACCGCCGACGG
GCGCCTGGTTGAATATGACATAGATGAAGTGGTATATGACGAAGATTCACCTTATCAAAATATA
AAAATTCTACACTCGAAGCAGTTTGGAAATATTCTCATCCTTAGTGGGGATGTTAATTTGGCAG
AGAGTGATTTGGCATATACCCGGGCCATCATGGGCAGTGGCAAAGAAGATTACACTGGCAAAGA
TGTACTCATTCTGGGAGGTGGAGACGGAGGCATATTGTGTGAAATAGTCAAACTAAAACCAAAG
ATGGTCACTATGGTAGAGATTGACCAAATGGTGATTGATGGGTGTAAGAAATACATGCGAAAAA
CGTGTGGCGATGTCTTAGACAATCTTAAAGGAGACTGCTATCAGGTTCTAATAGAAGACTGTAT
CCCGGTACTGAAGAGGTACGCCAAAGAAGGGAGAGAATTTGATTATGTGATTAATGATTTGACA
GCTGTTCCAATCTCCACGTCTCCAGAAGAAGATTCCACATGGGAGTTTCTCAGACTGATTCTTG
ACCTCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTTTACACAGGGGAACTGTGTCAATCT
GACAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCCTGTGGAATTTTCA
AAGGAGATCGTCTGTGTCCCTTCATACTTGGAATTGTGGGTATTTTACACTGTTTGGAAGAAAG
CTAAACCCTGAAGATCAGTAGCCCCTAATCACATGTGCTGCAAATAGCCTTCCTGACCTCCATA
TGCTGTACATGACATCAAAATGAGTCAGGCAATTGATTGTGAATTCCTTAAAGTTTTCCTTTTT
TTAATAATTATTTTTAATTTAAAAAAGCAAATGGAAAATGTATATTTTGATGAGCTTAGGGTGT
TTTTTTTTTGAAAGTCAGCTGAAGGATGGTTAGACAGCACAGCGAAGACTGCTAAATGCACTGA
CCCCCCCCATTAGAATGTGATTTTTGTTCCTTTTTATTTCTCTGTGGGCTTTTGTTTTTGTTTT
TGTTTTGGTAGATCTTCAATTTGGATATTTGGAGGAGTGAACATCGTTGTTTTGCTGGAGGGAA
GATCTTGATGGTGTTTCTTTCCCCAAAAATTGACTTAGATATTAAAATTTGGTGCTTATAAGAG
AGAGTTAAAAAAAAATAGGATTGCTTCAATTAAAATTACAAAAGAGACA

hide sequence

RefSeq Acc Id:

XM_011545568 ⟹ XP_011543870

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,941,207 - 21,994,837 (+)	NCBI

Sequence:

show sequence

GCTCGGGGAGTCCCCGGGCTGCCGGGCGCGGGCGGACCCCCCATGGGACGAGGGTTGCAGGGAC
TGCGGCGGAGCGAGGCGTGACCCGCGCGGCGAGCCCGGGCTGGGGGCGTGCGCCGAGCGGGGCT
GCCCGCGCGACCTTTTCCTGTTCTTGCAGGCGGCTGATGGTGAGACCATTCTAAAAGGCCTCCA
GTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCACACCTGGCAGGACCATGGCTATTTA
GCAACCTACACAAACAAGAACGGCAGCTTTGCCAATTTGAGAATTTACCCACATGGATTGGTGT
TGCTGGACCTTCAGAGTTATGATGGTGATGCGCAAGGCAAAGAAGAGATCGACAGTATTTTGAA
CAAAGTAGAGGAAAGAATGAAAGAATTGAGTCAGGACAGTACTGGGCGGGTGAAACGATTACCA
CCCATAGTGCGAGGAGGAGCCATCGACAGATACTGGCCCACCGCCGACGGGCGCCTGGTTGAAT
ATGACATAGATGAAGTGGTATATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTC
GAAGCAGTTTGGAAATATTCTCATCCTTAGTGGGGATGTTAATTTGGCAGAGAGTGATTTGGCA
TATACCCGGGCCATCATGGGCAGTGGCAAAGAAGATTACACTGGCAAAGATGTACTCATTCTGG
GAGGTGGAGACGGAGGCATATTGTGTGAAATAGTCAAACTAAAACCAAAGATGGTCACTATGGT
AGAGATTGACCAAATGGTGATTGATGGGTGTAAGAAATACATGCGAAAAACGTGTGGCGATGTC
TTAGACAATCTTAAAGGAGACTGCTATCAGGTTCTAATAGAAGACTGTATCCCGGTACTGAAGA
GGTACGCCAAAGAAGGGAGAGAATTTGATTATGTGATTAATGATTTGACAGCTGTTCCAATCTC
CACGTCTCCAGAAGAAGATTCCACATGGGAGTTTCTCAGACTGATTCTTGACCTCTCAATGAAA
GTGTTGAAACAGGATGGGAAATATTTTACACAGGGGAACTGTGTCAATCTGACAGAAGCACTGT
CGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCCTGTGGAATTTTCAAAGGAGATCGTCTG
TGTCCCTTCATACTTGGAATTGTGGGTATTTTACACTGTTTGGAAGAAAGCTAAACCCTGAAGA
TCAGTAGCCCCTAATCACATGTGCTGCAAATAGCCTTCCTGACCTCCATATGCTGTACATGACA
TCAAAATGAGTCAGGCAATTGATTGTGAATTCCTTAAAGTTTTCCTTTTTTTAATAATTATTTT
TAATTTAAAAAAGCAAATGGAAAATGTATATTTTGATGAGCTTAGGGTGTTTTTTTTTTGAAAG
TCAGCTGAAGGATGGTTAGACAGCACAGCGAAGACTGCTAAATGCACTGACCCCCCCCATTAGA
ATGTGATTTTTGTTCCTTTTTATTTCTCTGTGGGCTTTTGTTTTTGTTTTTGTTTTGGTAGATC
TTCAATTTGGATATTTGGAGGAGTGAACATCGTTGTTTTGCTGGAGGGAAGATCTTGATGGTGT
TTCTTTCCCCAAAAATTGACTTAGATATTAAAATTTGGTGCTTATAAGAGAGAGTTAAAAAAAA
ATAGGATTGCTTCAATTAAAATTACAAAAGAGACA

hide sequence

RefSeq Acc Id:

XM_017029753 ⟹ XP_016885242

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,940,730 - 21,993,391 (+)	NCBI

Sequence:

show sequence

AGCACACTCCCAGCCGGCCGCAGCCTGACACGCCGCGCGGCCCCCCAGTCTCCCGCGGCTGCTC
CCCCAGGCATGGCACAGGGCCTCGCCTCACTATGGCAGCAGCACGGCACAGCACGCTCGACTTC
ATGCTCGGCGCCAAAGCTGATGGTGAGACCATTCTAAAAGGCCTCCAGTCCATTTTCCAGGAGC
AGGGGATGGCGGAGTCGGTGCACACCTGGCAGGACCATGGCTATTTAGCAACCTACACAAACAA
GAACGGCAGCTTTGCCAATTTGAGAATTTACCCACATGGATTGGTGTTGCTGGACCTTCAGAGT
TATGATGGTGATGCGCAAGGCAAAGAAGAGATCGACAGTATTTTGAACAAAGTAGAGGAAAGAA
TGAAAGAATTGAGTCAGGACAGTACTGGGCGGGTGAAACGATTACCACCCATAGTGCGAGGAGG
AGCCATCGACAGATACTGGCCCACCGCCGACGGGCGCCTGGTTGAATATGACATAGATGAAGTG
GTATATGACGAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAATA
TTCTCATCCTTAGTGGGGATGTTAATTTGGCAGAGAGTGATTTGGCATATACCCGGGCCATCAT
GGGCAGTGGCAAAGAAGATTACACTGGCAAAGATGTACTCATTCTGGGAGGTGGAGACGGAGGC
ATATTGTGTGAAATAGTCAAACTAAAACCAAAGATGGTCACTATGGTAGAGATTGACCAAATGG
TGATTGATGGGTGTAAGAAATACATGCGAAAAACGTGTGGCGATGTCTTAGACAATCTTAAAGG
AGACTGCTATCAGGTTCTAATAGAAGACTGTATCCCGGTACTGAAGAGGTACGCCAAAGAAGGG
AGAGAATTTGATTATGTGATTAATGATTTGACAGCTGTTCCAATCTCCACGTCTCCAGAAGAAG
ATTCCACATGGGAGTTTCTCAGACTGATTCTTGACCTCTCAATGAAAGTGTTGAAACAGGATGG
GAAATATTTTACACAGGGGAACTGTGTCAATCTGACAGAAGCACTGTCGCTCTATGAAGAACAG
CTGGGGCGCCTGTATTGTCCTGTGGAATTTTCAAAGGAGATCGTCTGTGTCCCTTCATACTTGG
AATTGTATCCTTTGACCGTGACATTCTGTTGCCAGATCAAAGCACCCAAGTAAATCATATGCCA
ATGAAAAAATTTAAATCACAATAATAAACAATTAGCTTAGCCATAGAGTATATAAAGCCCTGGT
TCTCCAGCTTAGGTGCACATTGGAATCCCCTGAGAAGCTTTAAATAAAATCTGAGATTCTAGAC
TTCCATTCTCAAAAGTTTTGGGGTCTGGCTTGCCACAGCTTTCCAGGTGCTTTTAATGATCAAG
CACTACTGGTCTAAAGCATTGGTTCTCAAAGGTGTTGCCAGACCTGCAGCATCGCTCAAGAACT
AGTTAGACATGGACATTCTCAAGCCCCACCCCAACCTGCTGCCCAATCAGAGGAATTCTGGAGG
TGGGGGCCCAGTGACCTGTTCTACCAGCCCTCCCAGGGATTTATGTGCACCTGAAAAGTTTGAG
AAGCCCTAGTCTAAAATAACCACCCTACCTGTGGCAGGTAAAATGTCTAAAGACACTCATTCTA
CTCTTACATTAAAATAACCTGACATTAATACTAGTTTCTACACTTGATGCTAATTTGCAACAGA
AATCGAGAACTAGAATGATGTTGGGGACTGCACGGTTAACATTGGTGTTCTCTGTTAGTTCCGC
TTAGTAAAGTTAGTCTAGAGAAGTAAAACACAGAAAGAAAAAA

hide sequence

RefSeq Acc Id:

XM_017029754 ⟹ XP_016885243

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,959,882 - 21,993,384 (+)	NCBI

Sequence:

show sequence

GCACACCATCTTCCCGTGGAGAGAGTGCAGATCCCTGAAAGGAGCAGGCAAGAAGGGGCCGGGT
ATAAGCCTGACCAAAGGTGGGCCCTTGGACTTAGGTGGCAAGTGCTGATGGTGAGACCATTCTA
AAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCGGTGCACACCTGGCAGGACC
ATGGCTATTTAGCAACCTACACAAACAAGAACGGCAGCTTTGCCAATTTGAGAATTTACCCACA
TGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGTGATGCGCAAGGCAAAGAAGAGATCGAC
AGTATTTTGAACAAAGTAGAGGAAAGAATGAAAGAATTGAGTCAGGACAGTACTGGGCGGGTGA
AACGATTACCACCCATAGTGCGAGGAGGAGCCATCGACAGATACTGGCCCACCGCCGACGGGCG
CCTGGTTGAATATGACATAGATGAAGTGGTATATGACGAAGATTCACCTTATCAAAATATAAAA
ATTCTACACTCGAAGCAGTTTGGAAATATTCTCATCCTTAGTGGGGATGTTAATTTGGCAGAGA
GTGATTTGGCATATACCCGGGCCATCATGGGCAGTGGCAAAGAAGATTACACTGGCAAAGATGT
ACTCATTCTGGGAGGTGGAGACGGAGGCATATTGTGTGAAATAGTCAAACTAAAACCAAAGATG
GTCACTATGGTAGAGATTGACCAAATGGTGATTGATGGGTGTAAGAAATACATGCGAAAAACGT
GTGGCGATGTCTTAGACAATCTTAAAGGAGACTGCTATCAGGTTCTAATAGAAGACTGTATCCC
GGTACTGAAGAGGTACGCCAAAGAAGGGAGAGAATTTGATTATGTGATTAATGATTTGACAGCT
GTTCCAATCTCCACGTCTCCAGAAGAAGATTCCACATGGGAGTTTCTCAGACTGATTCTTGACC
TCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTTTACACAGGGGAACTGTGTCAATCTGAC
AGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTGTCCTGTGGAATTTTCAAAG
GAGATCGTCTGTGTCCCTTCATACTTGGAATTGTATCCTTTGACCGTGACATTCTGTTGCCAGA
TCAAAGCACCCAAGTAAATCATATGCCAATGAAAAAATTTAAATCACAATAATAAACAATTAGC
TTAGCCATAGAGTATATAAAGCCCTGGTTCTCCAGCTTAGGTGCACATTGGAATCCCCTGAGAA
GCTTTAAATAAAATCTGAGATTCTAGACTTCCATTCTCAAAAGTTTTGGGGTCTGGCTTGCCAC
AGCTTTCCAGGTGCTTTTAATGATCAAGCACTACTGGTCTAAAGCATTGGTTCTCAAAGGTGTT
GCCAGACCTGCAGCATCGCTCAAGAACTAGTTAGACATGGACATTCTCAAGCCCCACCCCAACC
TGCTGCCCAATCAGAGGAATTCTGGAGGTGGGGGCCCAGTGACCTGTTCTACCAGCCCTCCCAG
GGATTTATGTGCACCTGAAAAGTTTGAGAAGCCCTAGTCTAAAATAACCACCCTACCTGTGGCA
GGTAAAATGTCTAAAGACACTCATTCTACTCTTACATTAAAATAACCTGACATTAATACTAGTT
TCTACACTTGATGCTAATTTGCAACAGAAATCGAGAACTAGAATGATGTTGGGGACTGCACGGT
TAACATTGGTGTTCTCTGTTAGTTCCGCTTAGTAAAGTTAGTCTAGAGAAGTAAAACACAGAAA

hide sequence

RefSeq Acc Id:

XM_017029755 ⟹ XP_016885244

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,941,169 - 21,993,384 (+)	NCBI

Sequence:

show sequence

CCCGCGCTCCCACGCGGGCTCGCCGCCTTCGCGCTCCCGCTCGGGGAGTCCCCGGGCTGCCGGG
CGCGGGCGGACCCCCCATGGGACGAGGGTTGCAGGGACTGCGGCGGAGCGAGGCGTGACCCGCG
CGGCGAGCCCGGGCTGGGGGCGTGCGCCGAGCGGGGCTGCCCGCGCGACCTTTTCCTGTTCTTG
CAGGCGGCTGATGGTGAGACCATTCTAAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGG
CGGAGTCGGTGCACACCTGGCAGGACCATGGCTATTTAGCAACCTACACAAACAAGAACGGCAG
CTTTGCCAATTTGAGAATTTACCCACATGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGT
GATGCGCAAGGCAAAGAAGAGATCGACAGTATTTTGAACAAAGTAGAGGAAAGAATGAAAGAAT
TGAGTCAGGACAGTACTGGGCGGGTGAAACGATTACCACCCATAGTGCGAGGAGGAGCCATCGA
CAGATACTGGCCCACCGCCGACGGGCGCCTGGTTGAATATGACATAGATGAAGTGGTATATGAC
GAAGATTCACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAATATTCTCATCC
TTAGTGGGGATGTTAATTTGGCAGAGAGTGATTTGGCATATACCCGGGCCATCATGGGCAGTGG
CAAAGAAGATTACACTGGCAAAGATGTACTCATTCTGGGAGGTGGAGACGGAGGCATATTGTGT
GAAATAGTCAAACTAAAACCAAAGATGGTCACTATGGTAGAGATTGACCAAATGGTGATTGATG
GGTGTAAGAAATACATGCGAAAAACGTGTGGCGATGTCTTAGACAATCTTAAAGGAGACTGCTA
TCAGGTTCTAATAGAAGACTGTATCCCGGTACTGAAGAGGTACGCCAAAGAAGGGAGAGAATTT
GATTATGTGATTAATGATTTGACAGCTGTTCCAATCTCCACGTCTCCAGAAGAAGATTCCACAT
GGGAGTTTCTCAGACTGATTCTTGACCTCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTT
TACACAGGGGAACTGTGTCAATCTGACAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGC
CTGTATTGTCCTGTGGAATTTTCAAAGGAGATCGTCTGTGTCCCTTCATACTTGGAATTGTATC
CTTTGACCGTGACATTCTGTTGCCAGATCAAAGCACCCAAGTAAATCATATGCCAATGAAAAAA
TTTAAATCACAATAATAAACAATTAGCTTAGCCATAGAGTATATAAAGCCCTGGTTCTCCAGCT
TAGGTGCACATTGGAATCCCCTGAGAAGCTTTAAATAAAATCTGAGATTCTAGACTTCCATTCT
CAAAAGTTTTGGGGTCTGGCTTGCCACAGCTTTCCAGGTGCTTTTAATGATCAAGCACTACTGG
TCTAAAGCATTGGTTCTCAAAGGTGTTGCCAGACCTGCAGCATCGCTCAAGAACTAGTTAGACA
TGGACATTCTCAAGCCCCACCCCAACCTGCTGCCCAATCAGAGGAATTCTGGAGGTGGGGGCCC
AGTGACCTGTTCTACCAGCCCTCCCAGGGATTTATGTGCACCTGAAAAGTTTGAGAAGCCCTAG
TCTAAAATAACCACCCTACCTGTGGCAGGTAAAATGTCTAAAGACACTCATTCTACTCTTACAT
TAAAATAACCTGACATTAATACTAGTTTCTACACTTGATGCTAATTTGCAACAGAAATCGAGAA
CTAGAATGATGTTGGGGACTGCACGGTTAACATTGGTGTTCTCTGTTAGTTCCGCTTAGTAAAG
TTAGTCTAGAGAAGTAAAACACAGAAA

hide sequence

RefSeq Acc Id:

XM_024452427 ⟹ XP_024308195

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,966,983 - 21,994,837 (+)	NCBI

Sequence:

show sequence

GGTGGAGAATGTTTATCGCTCATGTCATGACAAGGGATAAGTGACACTGACAACTTTGTTCAGC
TGATGGTGAGACCATTCTAAAAGGCCTCCAGTCCATTTTCCAGGAGCAGGGGATGGCGGAGTCG
GTGCACACCTGGCAGGACCATGGCTATTTAGCAACCTACACAAACAAGAACGGCAGCTTTGCCA
ATTTGAGAATTTACCCACATGGATTGGTGTTGCTGGACCTTCAGAGTTATGATGGTGATGCGCA
AGGCAAAGAAGAGATCGACAGTATTTTGAACAAAGTAGAGGAAAGAATGAAAGAATTGAGTCAG
GACAGTACTGGGCGGGTGAAACGATTACCACCCATAGTGCGAGGAGGAGCCATCGACAGATACT
GGCCCACCGCCGACGGGCGCCTGGTTGAATATGACATAGATGAAGTGGTATATGACGAAGATTC
ACCTTATCAAAATATAAAAATTCTACACTCGAAGCAGTTTGGAAATATTCTCATCCTTAGTGGG
GATGTTAATTTGGCAGAGAGTGATTTGGCATATACCCGGGCCATCATGGGCAGTGGCAAAGAAG
ATTACACTGGCAAAGATGTACTCATTCTGGGAGGTGGAGACGGAGGCATATTGTGTGAAATAGT
CAAACTAAAACCAAAGATGGTCACTATGGTAGAGATTGACCAAATGGTGATTGATGGGTGTAAG
AAATACATGCGAAAAACGTGTGGCGATGTCTTAGACAATCTTAAAGGAGACTGCTATCAGGTTC
TAATAGAAGACTGTATCCCGGTACTGAAGAGGTACGCCAAAGAAGGGAGAGAATTTGATTATGT
GATTAATGATTTGACAGCTGTTCCAATCTCCACGTCTCCAGAAGAAGATTCCACATGGGAGTTT
CTCAGACTGATTCTTGACCTCTCAATGAAAGTGTTGAAACAGGATGGGAAATATTTTACACAGG
GGAACTGTGTCAATCTGACAGAAGCACTGTCGCTCTATGAAGAACAGCTGGGGCGCCTGTATTG
TCCTGTGGAATTTTCAAAGGAGATCGTCTGTGTCCCTTCATACTTGGAATTGTGGGTATTTTAC
ACTGTTTGGAAGAAAGCTAAACCCTGAAGATCAGTAGCCCCTAATCACATGTGCTGCAAATAGC
CTTCCTGACCTCCATATGCTGTACATGACATCAAAATGAGTCAGGCAATTGATTGTGAATTCCT
TAAAGTTTTCCTTTTTTTAATAATTATTTTTAATTTAAAAAAGCAAATGGAAAATGTATATTTT
GATGAGCTTAGGGTGTTTTTTTTTTGAAAGTCAGCTGAAGGATGGTTAGACAGCACAGCGAAGA
CTGCTAAATGCACTGACCCCCCCCATTAGAATGTGATTTTTGTTCCTTTTTATTTCTCTGTGGG
CTTTTGTTTTTGTTTTTGTTTTGGTAGATCTTCAATTTGGATATTTGGAGGAGTGAACATCGTT
GTTTTGCTGGAGGGAAGATCTTGATGGTGTTTCTTTCCCCAAAAATTGACTTAGATATTAAAAT
TTGGTGCTTATAAGAGAGAGTTAAAAAAAAATAGGATTGCTTCAATTAAAATTACAAAAGAGAC
A

hide sequence

Protein Sequences


Protein RefSeqs	NP_001245352	(Get FASTA)	NCBI Sequence Viewer
	NP_004586	(Get FASTA)	NCBI Sequence Viewer
	XP_005274639	(Get FASTA)	NCBI Sequence Viewer
	XP_011543870	(Get FASTA)	NCBI Sequence Viewer
	XP_016885242	(Get FASTA)	NCBI Sequence Viewer
	XP_016885243	(Get FASTA)	NCBI Sequence Viewer
	XP_016885244	(Get FASTA)	NCBI Sequence Viewer
	XP_024308195	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB61308	(Get FASTA)	NCBI Sequence Viewer
	AAD08634	(Get FASTA)	NCBI Sequence Viewer
	AAH09898	(Get FASTA)	NCBI Sequence Viewer
	AAH85621	(Get FASTA)	NCBI Sequence Viewer
	BAG36567	(Get FASTA)	NCBI Sequence Viewer
	BAG56951	(Get FASTA)	NCBI Sequence Viewer
	CAA88921	(Get FASTA)	NCBI Sequence Viewer
	EAW98984	(Get FASTA)	NCBI Sequence Viewer
	EAW98985	(Get FASTA)	NCBI Sequence Viewer
	EAW98986	(Get FASTA)	NCBI Sequence Viewer
	P52788	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_004586 ⟸ NM_004595
- Peptide Label:	isoform 1
- UniProtKB:	P52788 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIY PHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTAD GRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGK DVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDC IPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVN LTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP hide sequence

RefSeq Acc Id:	NP_001245352 ⟸ NM_001258423
- Peptide Label:	isoform 2
- UniProtKB:	P52788 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGRLPPIVRG GAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAI MGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLK GDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQD GKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELWVFYTVWKKAKP hide sequence

RefSeq Acc Id:

XP_005274639 ⟸ XM_005274582

- Peptide Label:

isoform X3

- Sequence:

show sequence

MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMK
ELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNIL
ILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVI
DGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDS
TWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP

hide sequence

RefSeq Acc Id:

XP_011543870 ⟸ XM_011545568

- Peptide Label:

isoform X3

- Sequence:

show sequence

MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMK
ELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNIL
ILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVI
DGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDS
TWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP

hide sequence

RefSeq Acc Id:

XP_016885242 ⟸ XM_017029753

- Peptide Label:

isoform X1

- Sequence:

show sequence

MAAARHSTLDFMLGAKADGETILKGLQSIFQEQGMAESVHTWQDHGYLATYTNKNGSFANLRIY
PHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMKELSQDSTGRVKRLPPIVRGGAIDRYWPTAD
GRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNILILSGDVNLAESDLAYTRAIMGSGKEDYTGK
DVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVIDGCKKYMRKTCGDVLDNLKGDCYQVLIEDC
IPVLKRYAKEGREFDYVINDLTAVPISTSPEEDSTWEFLRLILDLSMKVLKQDGKYFTQGNCVN
LTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLELYPLTVTFCCQIKAPK

hide sequence

RefSeq Acc Id:

XP_016885244 ⟸ XM_017029755

- Peptide Label:

isoform X2

- Sequence:

show sequence

MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMK
ELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNIL
ILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVI
DGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDS
TWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
YPLTVTFCCQIKAPK

hide sequence

RefSeq Acc Id:

XP_016885243 ⟸ XM_017029754

- Peptide Label:

isoform X2

- Sequence:

show sequence

MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMK
ELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNIL
ILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVI
DGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDS
TWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
YPLTVTFCCQIKAPK

hide sequence

RefSeq Acc Id:

XP_024308195 ⟸ XM_024452427

- Peptide Label:

isoform X3

- Sequence:

show sequence

MAESVHTWQDHGYLATYTNKNGSFANLRIYPHGLVLLDLQSYDGDAQGKEEIDSILNKVEERMK
ELSQDSTGRVKRLPPIVRGGAIDRYWPTADGRLVEYDIDEVVYDEDSPYQNIKILHSKQFGNIL
ILSGDVNLAESDLAYTRAIMGSGKEDYTGKDVLILGGGDGGILCEIVKLKPKMVTMVEIDQMVI
DGCKKYMRKTCGDVLDNLKGDCYQVLIEDCIPVLKRYAKEGREFDYVINDLTAVPISTSPEEDS
TWEFLRLILDLSMKVLKQDGKYFTQGNCVNLTEALSLYEEQLGRLYCPVEFSKEIVCVPSYLEL
WVFYTVWKKAKP

hide sequence

RefSeq Acc Id:

ENSP00000407366 ⟸ ENST00000457085

RefSeq Acc Id:

ENSP00000385746 ⟸ ENST00000404933

RefSeq Acc Id:

ENSP00000368714 ⟸ ENST00000379404

Protein Domains

PABS

Promoters

RGD ID:

6809281

Promoter ID:

HG_KWN:66230

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000379404, OTTHUMT00000056030, OTTHUMT00000056032, OTTHUMT00000056033, UC004DAF.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	21,868,516 - 21,869,352 (+)	MPROMDB

RGD ID:

13604912

Promoter ID:

EPDNEW_H28640

Type:

initiation region

Name:

SMS_2

Description:

spermine synthase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28641

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,940,596 - 21,940,656	EPDNEW

RGD ID:

13604914

Promoter ID:

EPDNEW_H28641

Type:

initiation region

Name:

SMS_1

Description:

spermine synthase

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28640

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	21,940,741 - 21,940,801	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_004595.5(SMS):c.329+5G>A	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000012389]	ChrX:21972576 [GRCh38] ChrX:21990694 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)	single nucleotide variant	Inborn genetic diseases [RCV000210586]\|Syndromic X-linked intellectual disability Snyder type [RCV000012390]\|not provided [RCV000414369]	ChrX:21967312 [GRCh38] ChrX:21985430 [GRCh37] ChrX:Xp22.11	pathogenic\|likely pathogenic
NM_004595.5(SMS):c.395T>G (p.Val132Gly)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000012391]	ChrX:21977126 [GRCh38] ChrX:21995244 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1	copy number loss	See cases [RCV000052993]	ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
NM_004595.5(SMS):c.174T>A (p.Phe58Leu)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000055902]	ChrX:21971900 [GRCh38] ChrX:21990018 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.200G>A (p.Gly67Glu)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000055903]	ChrX:21971926 [GRCh38] ChrX:21990044 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.443A>G (p.Gln148Arg)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000055905]	ChrX:21977174 [GRCh38] ChrX:21995292 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.449T>C (p.Ile150Thr)	single nucleotide variant	Snyder Robinson syndrome [RCV000055906]	ChrX:21977180 [GRCh38] ChrX:21995298 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.983A>C (p.Tyr328Ser)	single nucleotide variant	Snyder Robinson syndrome [RCV000055907]	ChrX:21992634 [GRCh38] ChrX:22010752 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.104T>A (p.Met35Lys)	single nucleotide variant	not provided [RCV000081159]	ChrX:21967250 [GRCh38] ChrX:21985368 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.983A>G (p.Tyr328Cys)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000074415]	ChrX:21992634 [GRCh38] ChrX:22010752 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.1026A>C (p.Ser342=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000717145]\|Syndromic X-linked intellectual disability Snyder type [RCV000601014]\|not provided [RCV000889845]\|not specified [RCV000173807]	ChrX:21992677 [GRCh38] ChrX:22010795 [GRCh37] ChrX:Xp22.11	benign\|likely benign\|conflicting interpretations of pathogenicity
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
NM_004595.5(SMS):c.569C>T (p.Thr190Ile)	single nucleotide variant	History of neurodevelopmental disorder [RCV000716750]\|not provided [RCV000930025]\|not specified [RCV000179446]	ChrX:21978023 [GRCh38] ChrX:21996141 [GRCh37] ChrX:Xp22.11	benign\|likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.978G>A (p.Ser326=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000718834]\|not provided [RCV000173806]	ChrX:21992629 [GRCh38] ChrX:22010747 [GRCh37] ChrX:Xp22.11	likely benign\|conflicting interpretations of pathogenicity\|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 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 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 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2	copy number gain	See cases [RCV000134875]	ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	copy number loss	See cases [RCV000135551]	ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1	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 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	copy number loss	See cases [RCV000138069]	ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	copy number loss	See cases [RCV000143496]	ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1	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
NM_004595.5(SMS):c.330A>G (p.Arg110=)	single nucleotide variant	not specified [RCV000192724]	ChrX:21977061 [GRCh38] ChrX:21995179 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.714C>T (p.Gly238=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000717166]\|not specified [RCV000194134]	ChrX:21978930 [GRCh38] ChrX:21997048 [GRCh37] ChrX:Xp22.11	likely benign\|uncertain significance
NM_004595.5(SMS):c.699G>A (p.Met233Ile)	single nucleotide variant	not provided [RCV000179890]	ChrX:21978915 [GRCh38] ChrX:21997033 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.661-5C>T	single nucleotide variant	not provided [RCV000179891]	ChrX:21978872 [GRCh38] ChrX:21996990 [GRCh37] ChrX:Xp22.11	conflicting interpretations of pathogenicity\|uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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 Xp22.33-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:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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 Xp22.33-21.1(chrX:71267-35809046)x1	copy number loss	See cases [RCV000240335]	ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	copy number gain	See cases [RCV000240441]	ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_004595.5(SMS):c.638C>A (p.Pro213Gln)	single nucleotide variant	Inborn genetic diseases [RCV000622379]	ChrX:21978092 [GRCh38] ChrX:21996210 [GRCh37] ChrX:Xp22.11	uncertain significance
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	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 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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
NM_004595.5(SMS):c.661-4G>T	single nucleotide variant	not specified [RCV000417669]	ChrX:21978873 [GRCh38] ChrX:21996991 [GRCh37] ChrX:Xp22.11	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22063592)x2	copy number gain	See cases [RCV000512061]	ChrX:21708594..22063592 [GRCh37] ChrX:Xp22.12-22.11	uncertain significance
NM_004595.5(SMS):c.831G>T (p.Leu277Phe)	single nucleotide variant	not provided [RCV000480904]	ChrX:21984384 [GRCh38] ChrX:22002502 [GRCh37] ChrX:Xp22.11	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	copy number loss	See cases [RCV000510590]	ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
NM_004595.5(SMS):c.665A>T (p.Asp222Val)	single nucleotide variant	SMS-Related Disorder [RCV000509103]\|not provided [RCV000522772]	ChrX:21978881 [GRCh38] ChrX:21996999 [GRCh37] ChrX:Xp22.11	likely pathogenic\|not provided
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 Xp22.33-21.1(chrX:168546-35841052)x1	copy number loss	See cases [RCV000510308]	ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	copy number loss	See cases [RCV000511350]	ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2	copy number gain	See cases [RCV000511443]	ChrX:15290524..29747172 [GRCh37] ChrX:Xp22.2-21.2	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.12-22.11(chrX:21708594-22054641)x3	copy number gain	See cases [RCV000511611]	ChrX:21708594..22054641 [GRCh37] ChrX:Xp22.12-22.11	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	copy number gain	See cases [RCV000512204]	ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.820A>G (p.Ile274Val)	single nucleotide variant	History of neurodevelopmental disorder [RCV000716920]	ChrX:21984373 [GRCh38] ChrX:22002491 [GRCh37] ChrX:Xp22.11	uncertain significance
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	copy number loss	not provided [RCV000684183]	ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.789C>T (p.Tyr263=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000718024]	ChrX:21984342 [GRCh38] ChrX:22002460 [GRCh37] ChrX:Xp22.11	likely benign
NM_004595.5(SMS):c.114G>A (p.Ser38=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000718959]\|not provided [RCV000934691]	ChrX:21967260 [GRCh38] ChrX:21985378 [GRCh37] ChrX:Xp22.11	likely benign
NM_004595.5(SMS):c.561A>G (p.Glu187=)	single nucleotide variant	History of neurodevelopmental disorder [RCV000721049]\|not provided [RCV000918745]	ChrX:21978015 [GRCh38] ChrX:21996133 [GRCh37] ChrX:Xp22.11	benign
NM_004595.5(SMS):c.505+3A>G	single nucleotide variant	History of neurodevelopmental disorder [RCV000720966]\|not provided [RCV001302433]	ChrX:21977239 [GRCh38] ChrX:21995357 [GRCh37] ChrX:Xp22.11	uncertain significance
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754363]	ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)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 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_004595.5(SMS):c.581T>G (p.Val194Gly)	single nucleotide variant	Smith-Magenis syndrome [RCV000760247]	ChrX:21978035 [GRCh38] ChrX:21996153 [GRCh37] ChrX:Xp22.11	likely pathogenic
GRCh37/hg19 Xp22.11(chrX:21956780-21977221)x1	copy number loss	not provided [RCV001007273]	ChrX:21956780..21977221 [GRCh37] ChrX:Xp22.11	uncertain significance
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
NM_004595.5(SMS):c.171C>T (p.Ser57=)	single nucleotide variant	not provided [RCV000902528]	ChrX:21971897 [GRCh38] ChrX:21990015 [GRCh37] ChrX:Xp22.11	benign
NC_000023.10:g.(?_21990015)_(22292386_?)del	deletion	not provided [RCV001031815]	ChrX:21990015..22292386 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	copy number gain	not provided [RCV000767802]	ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
NM_004595.5(SMS):c.45C>G (p.Ala15=)	single nucleotide variant	not provided [RCV000975280]	ChrX:21940869 [GRCh38] ChrX:21958987 [GRCh37] ChrX:Xp22.11	likely benign
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849766]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849768]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
NM_004595.5(SMS):c.388C>T (p.Arg130Cys)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001007564]	ChrX:21977119 [GRCh38] ChrX:21995237 [GRCh37] ChrX:Xp22.11	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2	copy number gain	not provided [RCV000846248]	ChrX:21999106..22054641 [GRCh37] ChrX:Xp22.11	uncertain significance
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2	copy number gain	not provided [RCV000846605]	ChrX:21999106..22054641 [GRCh37] ChrX:Xp22.11	uncertain significance
GRCh37/hg19 Xp22.12-21.1(chrX:20925922-35511818)x1	copy number loss	not provided [RCV000847678]	ChrX:20925922..35511818 [GRCh37] ChrX:Xp22.12-21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	copy number gain	not provided [RCV000849574]	ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	copy number loss	not provided [RCV001007559]	ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	copy number loss	not provided [RCV001007223]	ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.799G>A (p.Gly267Arg)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV000985012]	ChrX:21984352 [GRCh38] ChrX:22002470 [GRCh37] ChrX:Xp22.11	uncertain significance
GRCh37/hg19 Xp22.11(chrX:21999106-22054641)x2	copy number gain	not provided [RCV000846247]	ChrX:21999106..22054641 [GRCh37] ChrX:Xp22.11	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
NM_004595.5(SMS):c.328C>G (p.Arg110Gly)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001250132]	ChrX:21972570 [GRCh38] ChrX:21990688 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_004595.5(SMS):c.908_911del (p.Met303fs)	deletion	Syndromic X-linked intellectual disability Snyder type [RCV000853623]	ChrX:21985184..21985187 [GRCh38] ChrX:22003302..22003305 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.63C>T (p.Thr21=)	single nucleotide variant	not provided [RCV000976024]	ChrX:21967209 [GRCh38] ChrX:21985327 [GRCh37] ChrX:Xp22.11	benign
NM_004595.5(SMS):c.13C>G (p.Arg5Gly)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001169877]	ChrX:21940837 [GRCh38] ChrX:21958955 [GRCh37] ChrX:Xp22.11	uncertain significance
NC_000023.11:g.(?_21977061)_(22077702_?)del	deletion	not provided [RCV001031635]	ChrX:21995179..22095820 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.3G>A (p.Met1Ile)	single nucleotide variant	not provided [RCV000999350]	ChrX:21940827 [GRCh38] ChrX:21958945 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.410A>G (p.Asp137Gly)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001171510]	ChrX:21977141 [GRCh38] ChrX:21995259 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_004595.5(SMS):c.905C>T (p.Ser302Leu)	single nucleotide variant	Intellectual disability [RCV001249470]	ChrX:21985183 [GRCh38] ChrX:22003301 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.844A>G (p.Ile282Val)	single nucleotide variant	not provided [RCV001041036]	ChrX:21984397 [GRCh38] ChrX:22002515 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.872C>A (p.Thr291Lys)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001197950]	ChrX:21985150 [GRCh38] ChrX:22003268 [GRCh37] ChrX:Xp22.11	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.608G>A (p.Gly203Asp)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001255181]	ChrX:21978062 [GRCh38] ChrX:21996180 [GRCh37] ChrX:Xp22.11	pathogenic
NM_004595.5(SMS):c.1019A>G (p.Glu340Gly)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001329289]	ChrX:21992670 [GRCh38] ChrX:22010788 [GRCh37] ChrX:Xp22.11	uncertain significance
NM_004595.5(SMS):c.350G>T (p.Gly117Val)	single nucleotide variant	not provided [RCV001311824]	ChrX:21977081 [GRCh38] ChrX:21995199 [GRCh37] ChrX:Xp22.11	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
NM_004595.5(SMS):c.587T>C (p.Ile196Thr)	single nucleotide variant	Syndromic X-linked intellectual disability Snyder type [RCV001310252]	ChrX:21978041 [GRCh38] ChrX:21996159 [GRCh37] ChrX:Xp22.11	likely pathogenic
NM_004595.5(SMS):c.330-10C>G	single nucleotide variant	not provided [RCV001289229]	ChrX:21977051 [GRCh38] ChrX:21995169 [GRCh37] ChrX:Xp22.11	uncertain significance

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:11123	AgrOrtholog
COSMIC	SMS	COSMIC
Ensembl Genes	ENSG00000102172	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000368714	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000385746	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000407366	UniProtKB/TrEMBL
Ensembl Transcript	ENST00000379404	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000404933	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000457085	UniProtKB/TrEMBL
Gene3D-CATH	2.30.140.10	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	3.30.160.110	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000102172	GTEx
HGNC ID	HGNC:11123	ENTREZGENE
Human Proteome Map	SMS	Human Proteome Map
InterPro	PABS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PABS_CS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SAM-dependent_MTases	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Sirohaem_synthase-like_central	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Spermidine_synt_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Spermidine_synt_N_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Spermine_synthase_animal	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SpmSyn_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:6611	UniProtKB/Swiss-Prot
NCBI Gene	6611	ENTREZGENE
OMIM	300105	OMIM
	309583	OMIM
PANTHER	PTHR46315	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Spermine_synt_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SpmSyn_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA35972	PharmGKB
PROSITE	PABS_1	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	PABS_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF53335	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	H7C2R7_HUMAN	UniProtKB/TrEMBL
	P52788	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	A6NHA7	UniProtKB/Swiss-Prot
	A6NI34	UniProtKB/Swiss-Prot
	B2R9M0	UniProtKB/Swiss-Prot
	O00544	UniProtKB/Swiss-Prot
	Q9UQS1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-22	SMS	spermine synthase	SRS	Snyder-Robinson X-linked mental retardation syndrome	Data Merged	737654	PROVISIONAL
2012-05-08	SMS	spermine synthase	SMS	spermine synthase	Symbol and/or name change	5135510	APPROVED
2011-08-17	SMS	spermine synthase	SMS	spermine synthase	Symbol and/or name change	5135510	APPROVED

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

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

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

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

Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Disease Annotations - OMIM

RGD Manual Annotations

Imported Annotations - SMPDB

Imported Annotations - KEGG (archival)