ZCCHC18 (zinc finger CCHC-type containing 18)

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Gene: ZCCHC18 (zinc finger CCHC-type containing 18) Homo sapiens

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Symbol:

ZCCHC18

Name:

zinc finger CCHC-type containing 18

RGD ID:

2291777

HGNC Page

HGNC:32459

Description:

Predicted to enable metal ion binding activity. Predicted to be active in nucleus.

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

paraneoplastic Ma antigen family member 7B; PNMA7B; Putative zinc finger CCHC domain-containing protein 18; Sizn2; zinc finger CCHC domain-containing protein 18; zinc finger, CCHC domain containing 12 pseudogene 1; zinc finger, CCHC domain containing 18 pseudogene

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	104,112,523 - 104,115,842 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	104,112,131 - 104,115,842 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	103,357,214 - 103,360,533 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	103,245,459 - 103,247,194 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	103,831,726 - 103,835,152 (+)	NCBI		Celera
Cytogenetic Map	X	q22.2	NCBI
HuRef	X	92,984,685 - 92,988,111 (+)	NCBI		HuRef
CHM1_1	X	103,267,996 - 103,271,422 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	102,543,724 - 102,547,043 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

autistic disorder (IAGP)

autosomal hemophilia A (IAGP)

factor VIII deficiency (IAGP)

Pelizaeus-Merzbacher disease (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(+)-catechin (EXP)

1,2-dichloroethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

4,4'-sulfonyldiphenol (ISO)

5-fluorouracil (ISO)

acrylamide (EXP)

aflatoxin B1 (EXP)

all-trans-retinoic acid (ISO)

antirheumatic drug (EXP)

arsenite(3-) (ISO)

benzo[a]pyrene (EXP)

bis(2-ethylhexyl) phthalate (ISO)

bisphenol A (ISO)

butanal (EXP)

dorsomorphin (EXP)

entinostat (EXP)

folic acid (ISO)

methoxyacetic acid (ISO)

mono(2-ethylhexyl) phthalate (ISO)

Monobutylphthalate (ISO)

N-nitrosodiethylamine (ISO)

paracetamol (ISO)

pentanal (EXP)

phenylmercury acetate (EXP)

pioglitazone (ISO)

progesterone (EXP)

propanal (EXP)

quercitrin (EXP)

SB 431542 (EXP)

streptozocin (ISO)

sunitinib (EXP)

temozolomide (EXP)

titanium dioxide (ISO)

trichostatin A (EXP)

triphenyl phosphate (EXP)

valproic acid (EXP,ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Cellular Component

nucleus (IBA)

Molecular Function

metal ion binding (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

Sudanophilic leukodystrophy (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:15146197	PMID:15772651	PMID:16344560	PMID:21873635	PMID:22340173	PMID:28065597	PMID:30862715	PMID:32393512	PMID:33660365

Genomics

Comparative Map Data

ZCCHC18
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	104,112,523 - 104,115,842 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	104,112,131 - 104,115,842 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	103,357,214 - 103,360,533 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	103,245,459 - 103,247,194 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	103,831,726 - 103,835,152 (+)	NCBI		Celera
Cytogenetic Map	X	q22.2	NCBI
HuRef	X	92,984,685 - 92,988,111 (+)	NCBI		HuRef
CHM1_1	X	103,267,996 - 103,271,422 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	102,543,724 - 102,547,043 (+)	NCBI		T2T-CHM13v2.0

Zcchc18
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	135,893,128 - 135,899,221 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	135,893,904 - 135,899,221 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	136,992,379 - 136,998,472 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	136,993,155 - 136,998,472 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	133,527,694 - 133,531,462 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	132,339,519 - 132,343,287 (+)	NCBI		MGSCv36	mm8
Celera	X	120,277,630 - 120,281,400 (+)	NCBI		Celera
Cytogenetic Map	X	F1	NCBI
cM Map	X	59.1	NCBI

Zcchc18
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955548	956,736 - 959,379 (+)	NCBI	ChiLan1.0	ChiLan1.0

ZCCHC18
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	X	103,619,260 - 103,622,647 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	103,622,860 - 103,626,248 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	93,236,493 - 93,239,874 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	103,615,135 - 103,618,442 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	103,616,710 - 103,617,923 (+)	Ensembl	panpan1.1		panPan2

ZCCHC18
(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	77,456,000 - 77,457,859 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	63,651,997 - 63,653,550 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	79,074,557 - 79,076,110 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	79,073,063 - 79,076,113 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	76,558,710 - 76,560,264 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	78,261,597 - 78,263,149 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	77,994,188 - 77,995,741 (+)	NCBI		UU_Cfam_GSD_1.0

Zcchc18
(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	77,363,547 - 77,366,818 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936499	10,293,483 - 10,294,414 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ZCCHC18
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	X	84,870,668 - 84,875,040 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	98,830,960 - 98,834,099 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ZCCHC18
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	91,992,497 - 91,999,568 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666065	16,904,925 - 16,912,026 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Zcchc18
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624803	13,029,580 - 13,031,549 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ZCCHC18
17 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 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 Xq21.1-23(chrX:77544283-110500317)x1	copy number loss	See cases [RCV000051668]	ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23	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 Xq22.1-22.3(chrX:101407698-106274188)x1	copy number loss	See cases [RCV000051715]	ChrX:101407698..106274188 [GRCh38] ChrX:100772737..105517404 [GRCh37] ChrX:100549342..105404060 [NCBI36] ChrX:Xq22.1-22.3	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:102070552-108264804)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051716]\|See cases [RCV000051716]	ChrX:102070552..108264804 [GRCh38] ChrX:101325524..107508034 [GRCh37] ChrX:101212180..107394690 [NCBI36] ChrX:Xq22.1-22.3	pathogenic
GRCh38/hg38 Xq22.2-22.3(chrX:103350604-104513304)x0	copy number loss	See cases [RCV000051717]	ChrX:103350604..104513304 [GRCh38] ChrX:102605532..103757985 [GRCh37] ChrX:102492188..103644641 [NCBI36] ChrX:Xq22.2-22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xq21.31-22.3(chrX:89372737-106174548)x3	copy number gain	See cases [RCV000052440]	ChrX:89372737..106174548 [GRCh38] ChrX:88627736..105418541 [GRCh37] ChrX:88514392..105305197 [NCBI36] ChrX:Xq21.31-22.3	pathogenic
GRCh38/hg38 Xq22.1-22.3(chrX:101620923-107632397)x3	copy number gain	See cases [RCV000052441]	ChrX:101620923..107632397 [GRCh38] ChrX:100875913..106875627 [GRCh37] ChrX:100762569..106762283 [NCBI36] ChrX:Xq22.1-22.3	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 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.1-23(chrX:100597687-111651116)x4	copy number gain	See cases [RCV000136029]	ChrX:100597687..111651116 [GRCh38] ChrX:99852684..110894344 [GRCh37] ChrX:99739340..110781000 [NCBI36] ChrX:Xq22.1-23	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:102197284-156003242)x1	copy number loss	See cases [RCV000137415]	ChrX:102197284..156003242 [GRCh38] ChrX:101452257..155232907 [GRCh37] ChrX:101338913..154886101 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 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 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.32-23(chrX:93591590-112530092)x3	copy number gain	See cases [RCV000139204]	ChrX:93591590..112530092 [GRCh38] ChrX:92846589..111773320 [GRCh37] ChrX:92733245..111659976 [NCBI36] ChrX:Xq21.32-23	pathogenic
GRCh38/hg38 Xq21.33-22.3(chrX:95823036-104957737)x1	copy number loss	See cases [RCV000139979]	ChrX:95823036..104957737 [GRCh38] ChrX:95078035..104202418 [GRCh37] ChrX:94964691..104089074 [NCBI36] ChrX:Xq21.33-22.3	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	copy number loss	See cases [RCV000142372]	ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 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 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 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 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)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq22.1-24(chrX:99931059-120328627)x1	copy number loss	Premature ovarian failure [RCV000225336]	ChrX:99931059..120328627 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xq21.33-26.1(chrX:95498487-129063677)x3	copy number gain	See cases [RCV000446318]	ChrX:95498487..129063677 [GRCh37] ChrX:Xq21.33-26.1	pathogenic
GRCh37/hg19 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 Xq22.1-22.2(chrX:99611312-103506684)	copy number gain	See cases [RCV000447561]	ChrX:99611312..103506684 [GRCh37] ChrX:Xq22.1-22.2	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 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)x0	copy number loss	See cases [RCV000448347]	ChrX:103046942..104214535 [GRCh37] ChrX:Xq22.2-22.3	likely pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2	copy number gain	See cases [RCV000448592]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 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\|uncertain significance
GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1	copy number loss	See cases [RCV000511514]	ChrX:86776682..114054291 [GRCh37] ChrX:Xq21.31-23	pathogenic\|uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 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 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:96499476-151870013)x3	copy number gain	See cases [RCV000512365]	ChrX:96499476..151870013 [GRCh37] ChrX:Xq21.33-28	uncertain significance
GRCh37/hg19 Xq22.1-28(chrX:98495811-155233731)x1	copy number loss	See cases [RCV000512372]	ChrX:98495811..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 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 Xq22.2(chrX:102718261-103490112)x2	copy number gain	not provided [RCV000684366]	ChrX:102718261..103490112 [GRCh37] ChrX:Xq22.2	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	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] 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: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
NM_001143978.3(ZCCHC18):c.967A>G (p.Thr323Ala)	single nucleotide variant	not provided [RCV001573138]	ChrX:104115078 [GRCh38] ChrX:103359769 [GRCh37] ChrX:Xq22.2	likely benign
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:102436725-105520605)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993773]	ChrX:102436725..105520605 [GRCh37] ChrX:Xq22.1-22.3	uncertain significance
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 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq22.1-22.3(chrX:101029649-106702784)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993775]	ChrX:101029649..106702784 [GRCh37] ChrX:Xq22.1-22.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:100866604-103411980)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993772]	ChrX:100866604..103411980 [GRCh37] ChrX:Xq22.1-22.2	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 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xq22.1-22.2(chrX:102543473-103398234)x0	copy number loss	not provided [RCV000993779]	ChrX:102543473..103398234 [GRCh37] ChrX:Xq22.1-22.2	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xq22.1-22.3(chrX:102066350-105409822)x1	copy number loss	Early Onset Neurological Disease Trait [RCV000993774]	ChrX:102066350..105409822 [GRCh37] ChrX:Xq22.1-22.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.32-23(chrX:91829757-113050225)x1	copy number loss	Xq21.32q23 deletion [RCV001579312]	ChrX:91829757..113050225 [GRCh37] ChrX:Xq21.32-23	pathogenic
GRCh37/hg19 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 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
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.1-24(chrX:101982475-116885339)	copy number gain	not specified [RCV002053166]	ChrX:101982475..116885339 [GRCh37] ChrX:Xq22.1-24	pathogenic
GRCh37/hg19 Xq22.2-22.3(chrX:103046942-104214535)	copy number loss	not specified [RCV002053169]	ChrX:103046942..104214535 [GRCh37] ChrX:Xq22.2-22.3	likely pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV001834509]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)	copy number gain	not specified [RCV002053170]	ChrX:103158718..111556067 [GRCh37] ChrX:Xq22.2-23	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	pathogenic
GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	copy number loss	not provided [RCV002474518]	ChrX:93805850..118913329 [GRCh37] ChrX:Xq21.33-24	pathogenic
NC_000023.11:g.(?_103776506)_(103799000_104817980)del	deletion	Pelizaeus-Merzbacher disease [RCV000011827]	ChrX:103776506..103799000 [GRCh38] ChrX:Xq22.2-22.3	pathogenic
NC_000023.11:g.(103477300_103776506)_(104039333_104817980)dup	duplication	Pelizaeus-Merzbacher disease [RCV000011842]	ChrX:103776506..104039333 [GRCh38] ChrX:Xq22.2-22.3	pathogenic
NM_001143978.3(ZCCHC18):c.1156G>A (p.Glu386Lys)	single nucleotide variant	not specified [RCV004161092]	ChrX:104115267 [GRCh38] ChrX:103359958 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.86T>C (p.Leu29Pro)	single nucleotide variant	not specified [RCV004236231]	ChrX:104114197 [GRCh38] ChrX:103358888 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.863C>T (p.Ser288Leu)	single nucleotide variant	not specified [RCV004233579]	ChrX:104114974 [GRCh38] ChrX:103359665 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.433G>T (p.Ala145Ser)	single nucleotide variant	not specified [RCV004172871]	ChrX:104114544 [GRCh38] ChrX:103359235 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.685C>T (p.Arg229Trp)	single nucleotide variant	not specified [RCV004149396]	ChrX:104114796 [GRCh38] ChrX:103359487 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.566G>A (p.Arg189His)	single nucleotide variant	not specified [RCV004182490]	ChrX:104114677 [GRCh38] ChrX:103359368 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.844G>T (p.Val282Leu)	single nucleotide variant	not specified [RCV004196451]	ChrX:104114955 [GRCh38] ChrX:103359646 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.971G>A (p.Ser324Asn)	single nucleotide variant	not specified [RCV004131551]	ChrX:104115082 [GRCh38] ChrX:103359773 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.512A>C (p.Asn171Thr)	single nucleotide variant	not specified [RCV004344873]	ChrX:104114623 [GRCh38] ChrX:103359314 [GRCh37] ChrX:Xq22.2	uncertain significance
GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	copy number loss	not provided [RCV003483927]	ChrX:91274467..126799984 [GRCh37] ChrX:Xq21.31-25	pathogenic
GRCh37/hg19 Xq21.33-22.3(chrX:96349060-106950847)x3	copy number gain	not provided [RCV003485308]	ChrX:96349060..106950847 [GRCh37] ChrX:Xq21.33-22.3	pathogenic
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	copy number gain	not provided [RCV003485304]	ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24	pathogenic
NM_001143978.3(ZCCHC18):c.891C>T (p.Phe297=)	single nucleotide variant	not provided [RCV003432285]	ChrX:104115002 [GRCh38] ChrX:103359693 [GRCh37] ChrX:Xq22.2	likely benign
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_001143978.3(ZCCHC18):c.129A>C (p.Arg43Ser)	single nucleotide variant	not specified [RCV004483429]	ChrX:104114240 [GRCh38] ChrX:103358931 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.607C>A (p.Gln203Lys)	single nucleotide variant	not specified [RCV004483430]	ChrX:104114718 [GRCh38] ChrX:103359409 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.633G>C (p.Glu211Asp)	single nucleotide variant	not specified [RCV004483431]	ChrX:104114744 [GRCh38] ChrX:103359435 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.737T>C (p.Val246Ala)	single nucleotide variant	not specified [RCV004483432]	ChrX:104114848 [GRCh38] ChrX:103359539 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.8G>C (p.Ser3Thr)	single nucleotide variant	not specified [RCV004483433]	ChrX:104114119 [GRCh38] ChrX:103358810 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.958T>C (p.Ser320Pro)	single nucleotide variant	not specified [RCV004483434]	ChrX:104115069 [GRCh38] ChrX:103359760 [GRCh37] ChrX:Xq22.2	uncertain significance
NM_001143978.3(ZCCHC18):c.1087G>A (p.Asp363Asn)	single nucleotide variant	not specified [RCV004686166]	ChrX:104115198 [GRCh38] ChrX:103359889 [GRCh37] ChrX:Xq22.2	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_001143978.3(ZCCHC18):c.830A>C (p.Glu277Ala)	single nucleotide variant	not specified [RCV004686165]	ChrX:104114941 [GRCh38] ChrX:103359632 [GRCh37] ChrX:Xq22.2	uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup	duplication	Hereditary factor VIII deficiency disease [RCV004768478]	ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	891
Count of miRNA genes:	568
Interacting mature miRNAs:	641
Transcripts:	ENST00000422784, ENST00000423478, ENST00000537356, ENST00000603049, ENST00000605784
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

SGC33118

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,364,246 - 103,364,371	UniSTS	GRCh37
Build 36	X	103,250,902 - 103,251,027	RGD	NCBI36
Celera	X	103,838,865 - 103,838,990	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	92,992,092 - 92,992,217	UniSTS
GeneMap99-GB4 RH Map	X	276.22	UniSTS
Whitehead-RH Map	X	236.4	UniSTS
NCBI RH Map	X	540.9	UniSTS

SGC34091

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,367,021 - 103,367,144	UniSTS	GRCh37
Build 36	X	103,253,677 - 103,253,800	RGD	NCBI36
Celera	X	103,841,638 - 103,841,761	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	92,994,834 - 92,994,957	UniSTS
GeneMap99-GB4 RH Map	X	275.02	UniSTS
Whitehead-RH Map	X	271.6	UniSTS

RH79967

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,364,266 - 103,364,469	UniSTS	GRCh37
Build 36	X	103,250,922 - 103,251,125	RGD	NCBI36
Celera	X	103,838,885 - 103,839,088	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	92,992,112 - 92,992,315	UniSTS
GeneMap99-GB4 RH Map	X	275.4	UniSTS

RH104213

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,374,922 - 103,375,069	UniSTS	GRCh37
Build 36	X	103,261,578 - 103,261,725	RGD	NCBI36
Celera	X	103,849,539 - 103,849,686	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	93,002,601 - 93,002,748	UniSTS
GeneMap99-GB4 RH Map	X	275.02	UniSTS

SHGC-132991

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,360,327 - 103,360,515	UniSTS	GRCh37
Build 36	X	103,246,983 - 103,247,171	RGD	NCBI36
Celera	X	103,834,946 - 103,835,134	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	92,987,905 - 92,988,093	UniSTS
TNG Radiation Hybrid Map	X	22771.0	UniSTS

L77846

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,375,520 - 103,375,659	UniSTS	GRCh37
Build 36	X	103,262,176 - 103,262,315	RGD	NCBI36
Celera	X	103,850,137 - 103,850,276	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	93,003,199 - 93,003,338	UniSTS

SHGC-58402

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,360,362 - 103,360,514	UniSTS	GRCh37
Build 36	X	103,247,018 - 103,247,170	RGD	NCBI36
Celera	X	103,834,981 - 103,835,133	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	92,987,940 - 92,988,092	UniSTS

RH69847

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,367,076 - 103,367,209	UniSTS	GRCh37
Build 36	X	103,253,732 - 103,253,865	RGD	NCBI36
Celera	X	103,841,693 - 103,841,826	RGD
Cytogenetic Map	X	q22.2	UniSTS
GeneMap99-GB4 RH Map	X	277.43	UniSTS
NCBI RH Map	X	539.4	UniSTS

L77847

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	103,375,500 - 103,375,596	UniSTS	GRCh37
Build 36	X	103,262,156 - 103,262,252	RGD	NCBI36
Celera	X	103,850,117 - 103,850,213	RGD
Cytogenetic Map	X	q22.2	UniSTS
HuRef	X	93,003,179 - 93,003,275	UniSTS

Expression

RNA-SEQ Expression

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2367	2772	2249	4967	1678	2259	1	580	1911	419	2264	7109	6414	51	3733	1	824	1716	1569	171	1

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001143978	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NR_026694	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011531012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054327572	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC234783	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF086548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI656548	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN272796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA166381	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA503483	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA781887	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA790216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA808943	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z82254	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000422784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,544 - 104,115,842 (+)	Ensembl

Ensembl Acc Id:

ENST00000423478

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,131 - 104,112,872 (+)	Ensembl

Ensembl Acc Id:

ENST00000537356 ⟹ ENSP00000473824

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,511 - 104,115,604 (+)	Ensembl

Ensembl Acc Id:

ENST00000603049

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,889 - 104,113,580 (+)	Ensembl

Ensembl Acc Id:

ENST00000605784

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,887 - 104,113,640 (+)	Ensembl

Ensembl Acc Id:

ENST00000611638 ⟹ ENSP00000482195

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,526 - 104,115,846 (+)	Ensembl

Ensembl Acc Id:

ENST00000650639 ⟹ ENSP00000498828

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	104,112,523 - 104,115,842 (+)	Ensembl

RefSeq Acc Id:

NM_001143978 ⟹ NP_001137450

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	104,112,523 - 104,115,842 (+)	NCBI
GRCh37	X	103,357,107 - 103,360,533 (+)	RGD
Celera	X	103,831,726 - 103,835,152 (+)	RGD
HuRef	X	92,984,795 - 92,988,116 (+)	NCBI
CHM1_1	X	103,268,106 - 103,271,427 (+)	NCBI
T2T-CHM13v2.0	X	102,543,724 - 102,547,043 (+)	NCBI

Sequence:

show sequence

GCTCTTTTGTCTCAGTCGCCAGAGACTGAAAGCAACCGCGGCTGCCCGGAGGGCCGAACTGGAG
GGTGGGCGCAGCCTTGGCTGCCTTGGGAACCGTGCTGCCTCGACTCGGCTACCCCTCGCTGGGC
GGTCGTGCGCACTCGCTAGGTCGGGCAGCCCCGGGTCGCTTAGCGGCCGAGGAGGCGGCAGAGA
TCCCGTTCCCCTGCAGAGCTACGGGGACCGGAAGGCGAAACAGAGCTGTGGACGCGGGAGCACA
TGCTGCCCACCAGTGGAGCACAAGTAAAGAAAGAACGCGCGATTGCCCGGCGCGGAGAGGGGTG
GGGGAAGCCCCGCCAGGACTGGGCGGCGCCCGGCTTGGAGAATCAGTAACTGCGAGGCAGGGGA
TGGAGCACTCCCTTGGCCTGGTTGCGCTGAGGAAGGAGTTGTGGTTCATCTGGATGCTGCCGAC
TGGATAGGATTTAGGATTTGCCTGGATTAAGGTCATCAAAGCCGAATCCGAACTTGAATTCTGT
GCGGCGGATTGCAGAGCTGTCTTGAGGCCCTGAGGACTGGGATCTGCGACACCCAGTGGACAAA
AGTCGGCCGTACCCCAGAGGCTAATTTTCTCACGGCAGGCACCTGTTGCAGAGGCTGCACGTAA
AATAAAGGCGAACGCTAGTTTCCGAGCTCATGTAAGAATCTGAGAAATAACGGGGGAAACGTTG
ACAAGGGGGTGTGATTGAGACCTGAGGCCATGAGGTTAATGGTTTCTTATTATCATAAATCTGT
GACACACAACCATTGAGTTCCGTTTTGAGGGCCCAGTATCAGCTCCCAACACTATGTCATCTAG
AATTAGAAGCAACAGTTGTCGCCCCTCCTGGAGTACAGGCAGGAGGGGATGGATGTGGCTCTGA
AAAACTACCTACTAGCCCAGGGACACCTGCTAGCTCTGGAATGTTGTAATTGCCAGTCTCCTGC
AGGGTATTGTTAAGGCACTGGGCAGATATAAAATGCACTGCAAGGCTATTCAGGAAGATAGAGA
ATGCTACTGCAGACTGCTTCCCCACAGCCCACTATCTTATTAACCTTTTTTACTTTCCTTAGAA
TCCCTACTGAAATATAAGGCAGGCACAGCCCAGGAACGTTGCTTTGGAGAATCCTGCAGATAAG
GCTTTTCCAAAAAGCGCGAGCATCTTGTTGTATTCAGATACCCTATCGTCGTCAGTCATGGCTA
GCATCACTGCGTGTGTGGGTAACAGCAGGCAGCAGAATGCACCTTTGCCGCCTTGGGCCCATTC
CATGTTGAGGTCTCTGGGGAGGAGTCTCTGTCCTTTAGTGGTCAAAATGGCAGAGAGAAACATG
AAGTTGTTCTCAGGAAGAGTGGTGCCAGCCCAGGGGAAAGAAACCTTTGAAAACTGGCTGATCC
AAGTCAATGAGGTCCTGCCAGATTGGAGTATGTCTGAGGAGGAAAAACTCAAGCGCTTGATGAA
AACACTTAGGGGCCCTGCCCGGGAGGTCATGCGTTTGCTTCAGGCGGCCAACCCCAACCTAAGT
GTAGCAGATTTCTTGCGGGCAATGAAATTGGTGTTTGGGGAGTCTGAAAGCAGTGTGACTGCCC
ATGGTAAATTTTTTAACACCCTGCAGGCACAAGGGGAGAAAGCCTCCCTTTATGTGATCCGTTT
AGAGGTGCAGCTCCAGAATGCTATTCAGGCAGGCATCCTAGCTGAGAAAGATGCAAACCAGACT
CGCTTGCAACAGCTTCTTTTAGGCGCTGAGCTGAATAGGGACCTGCGCTTCAGGCTTAAGCATC
TTCTCAGGATGTATGCAAATAAGCAGGAGCGGCTTCCCAATTTCCTGGAGTTAATCAAGATGAT
AAGGGAGGAAGAGGATTGGGATGATGCTTTTATTAAACGGAAGCGGCCGAAAAGGTCTGAGCCA
ATAATGGAGAGGGCAGCCAGCCCTGTGGCATTTCAGGGCGCCCAGCCAATAGCAATCAGCAGTG
CTGACTGTAACTGCAACGTGATAGAAATAGATGATACCCTTGATGACTCTGATGAGGATGTGAT
CCTGGTGGTGTCTCTGTACCCTTCACTGACACCTACAGGTGCCCCTCCCTTCAGAGGAAGAGCC
AGACCTCTGGATCAAGTGCTGGTTATTGATTCCCCCAACAATTCTGGGGCTCAGTCTCTTTCTA
CCAGTGGTGGTTCTGGGTATAAGAATGATGGTCCTGGGAATATTCGTAGAGCCAGGAAGCGAAA
ATACACAACCCGCTGCTCATATTGTGGGGAGGAGGGCCACTCAAAAGAAACCTGTGACAATGAG
AGCAACAAGGCCCAGGTTTTTGAGAATCTGATCATCACCCTGCAGGAGCTGACACATACAGAGG
AGAGGTCAAAAGAGGTCCCTGGAGAACACAGTGATGCTTCTGAGCCACAGTAAGGATCTAGTCC
AGCCCTAAATGAGTCCTTGACTGTATTCAGAGTCTGGTAATGGGAATAACAGGAGAGGGGGGTG
GGTTTCTAACTGCATGAATTAATCCACAAAGCAGTTTTCCTTTGGGAAGGAGAAGAGGTCTTGC
ATACCAGCACAGTGGATGGGGAATGGTGTGACCTCTGTCCCTGCTCTCTTCTCTGCTGGCTTAA
GGGTCTATTCTCCATGTGTCTATTTCTTTGATGACTTTATACTTTTTATGAAAGGAGCATCTTT
TCATTAAACCTTCAAAAATAAAGGAAGATACAAAAACTAAAGTACAAATTACCTGAAACTCAGC
ACCCTTTTGTAACCATTGTCAGCCCTTTGGTGAATGTCCTTCCAGATATCTCCCTGTACCTGTG
TACCCAGATAGATATATGTATAGATAAGAGTGACCAAATATAAGTGCTGTTCTATACTGTGTAT
TTTTCACCAAATAATGTATCTCGTGGACTTCTATGTCGATGAATATATATAAATATCTAA

hide sequence

RefSeq Acc Id:

NR_026694

RefSeq Status:

VALIDATED

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	104,112,523 - 104,115,842 (+)	NCBI
GRCh37	X	103,357,107 - 103,360,533 (+)	RGD
Celera	X	103,831,726 - 103,835,152 (+)	RGD
HuRef	X	92,984,795 - 92,988,116 (+)	NCBI
CHM1_1	X	103,268,106 - 103,271,427 (+)	NCBI
T2T-CHM13v2.0	X	102,543,724 - 102,547,043 (+)	NCBI

Sequence:

show sequence

GCTCTTTTGTCTCAGTCGCCAGAGACTGAAAGCAACCGCGGCTGCCCGGAGGGCCGAACTGGAG
GGTGGGCGCAGCCTTGGCTGCCTTGGGAACCGTGCTGCCTCGACTCGGCTACCCCTCGCTGGGC
GGTCGTGCGCACTCGCTAGGTCGGGCAGCCCCGGGTCGCTTAGCGGCCGAGGAGGCGGCAGAGA
TCCCGTTCCCCTGCAGAGCTACGGGGACCGGAAGGCGAAACAGAGCTGTGGACGCGGGAGCACA
TGCTGCCCACCAGTGGAGCACAAGTAAAGAAAGAACGCGCGATTGCCCGGCGCGGAGAGGGGTG
GGGGAAGCCCCGCCAGGACTGGGCGGCGCCCGGCTTGGAGAATCAGTAACTGCGAGGCAGGGGA
TGGAGCACTCCCTTGGCCTGGTTGCGCTGAGGAAGGAGTTGTGGTTCATCTGGATGCTGCCGAC
TGGATAGGATTTAGGATTTGCCTGGATTAAGGTCATCAAAGCCGAATCCGAACTTGAATTCTGT
GCGGCGGATTGCAGAGCTGTCTTGAGGCCCTGAGGACTGGGATCTGCGACACCCAGTGGACAAA
AGTCGGCCGTACCCCAGAGGCTAATTTTCTCACGGCAGGCACCTGTTGCAGAGGCTGCACGTAA
AATAAAGGCGAACGCTAGTTTCCGAGCTCATGAGCTGACACATACAGAGGAGAGGTCAAAAGAG
GTCCCTGGAGAACACAGTGATGCTTCTGAGCCACAGTAAGGATCTAGTCCAGCCCTAAATGAGT
CCTTGACTGTATTCAGAGTCTGGTAATGGGAATAACAGGAGAGGGGGGTGGGTTTCTAACTGCA
TGAATTAATCCACAAAGCAGTTTTCCTTTGGGAAGGAGAAGAGGTCTTGCATACCAGCACAGTG
GATGGGGAATGGTGTGACCTCTGTCCCTGCTCTCTTCTCTGCTGGCTTAAGGGTCTATTCTCCA
TGTGTCTATTTCTTTGATGACTTTATACTTTTTATGAAAGGAGCATCTTTTCATTAAACCTTCA
AAAATAAAGGAAGATACAAAAACTAAAGTACAAATTACCTGAAACTCAGCACCCTTTTGTAACC
ATTGTCAGCCCTTTGGTGAATGTCCTTCCAGATATCTCCCTGTACCTGTGTACCCAGATAGATA
TATGTATAGATAAGAGTGACCAAATATAAGTGCTGTTCTATACTGTGTATTTTTCACCAAATAA
TGTATCTCGTGGACTTCTATGTCGATGAATATATATAAATATCTAA

hide sequence

RefSeq Acc Id:

XM_011531012 ⟹ XP_011529314

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	104,112,523 - 104,115,842 (+)	NCBI

Sequence:

show sequence

AGTAGCTTCGGGGCCGGAGGCTGTGCGGCGAGGCCGCCCCCTCGCCCCGCTGATTGGCCGCGTC
GCCCGGCCCGTCACGCTCTTTTGTCTCAGTCGCCAGAGACTGAAAGCAACCGCGGCTGCCCGGA
GGGCCGAACTGGAGGGTGGGCGCAGCCTTGGCTGCCTTGGGAACCGTGCTGCCTCGACTCGGCT
ACCCCTCGCTGGGCGGTCGTGCGCACTCGCTAGGTCGGGCAGCCCCGGGTCGCTTAGCGGCCGA
GGAGGCGGCAGAGATCCCGTTCCCCTGCAGAGCTACGGGGACCGGAAGGCGAAACAGAGCTGTG
GACGCGGGAGCACATGCTGCCCACCAGTGGAGCACAAGTAAAGAAAGAACGCGCGATTGCCCGG
CGCGGAGAGGGGTGGGGGAAGCCCCGCCAGGACTGGGCGGCGCCCGGCTTGGAGAATCAGTAAC
TGCGAGGCAGGGGATGGAGCACTCCCTTGGCCTGGTTGCGCTGAGGAAGGAGTTGTGGTTCATC
TGGATGCTGCCGACTGGATAGGATTTAGGATTTGCCTGGATTAAGGTCATCAAAGCCGAATCCG
AACTTGAATTCTGTGCGGCGGATTGCAGAGCTGGTAGGGCGAGGGTCTCCCGGAGGAAATTCTT
GAGGCCCTGAGGACTGGGATCTGCGACACCCAGTGGACAAAAGTCGGCCGTACCCCAGAGGCTA
ATTTTCTCACGGCAGGCACCTGTTGCAGAGGCTGCACGTAAAATAAAGGCGAACGCTAGTTTCC
GAGCTCATGTAAGAATCTGAGAAATAACGGGGGAAACGTTGACAAGGGGGTGTGATTGAGACCT
GAGGCCATGAGGTTAATGGTTTCTTATTATCATAAATCTGTGACACACAACCATTGAGTTCCGT
TTTGAGGGCCCAGTATCAGCTCCCAACACTATGTCATCTAGAATTAGAAGCAACAGTTGTCGCC
CCTCCTGGAGTACAGGCAGGAGGGGATGGATGTGGCTCTGAAAAACTACCTACTAGCCCAGGGA
CACCTGCTAGCTCTGGAATGTTGTAATTGCCAGTCTCCTGCAGGGTATTGTTAAGGCACTGGGC
AGATATAAAATGCACTGCAAGGCTATTCAGGAAGATAGAGAATGCTACTGCAGACTGCTTCCCC
ACAGCCCACTATCTTATTAACCTTTTTTACTTTCCTTAGAATCCCTACTGAAATATAAGGCAGG
CACAGCCCAGGAACGTTGCTTTGGAGAATCCTGCAGATAAGGCTTTTCCAAAAAGCGCGAGCAT
CTTGTTGTATTCAGATACCCTATCGTCGTCAGTCATGGCTAGCATCACTGCGTGTGTGGGTAAC
AGCAGGCAGCAGAATGCACCTTTGCCGCCTTGGGCCCATTCCATGTTGAGGTCTCTGGGGAGGA
GTCTCTGTCCTTTAGTGGTCAAAATGGCAGAGAGAAACATGAAGTTGTTCTCAGGAAGAGTGGT
GCCAGCCCAGGGGAAAGAAACCTTTGAAAACTGGCTGATCCAAGTCAATGAGGTCCTGCCAGAT
TGGAGTATGTCTGAGGAGGAAAAACTCAAGCGCTTGATGAAAACACTTAGGGGCCCTGCCCGGG
AGGTCATGCGTTTGCTTCAGGCGGCCAACCCCAACCTAAGTGTAGCAGATTTCTTGCGGGCAAT
GAAATTGGTGTTTGGGGAGTCTGAAAGCAGTGTGACTGCCCATGGTAAATTTTTTAACACCCTG
CAGGCACAAGGGGAGAAAGCCTCCCTTTATGTGATCCGTTTAGAGGTGCAGCTCCAGAATGCTA
TTCAGGCAGGCATCCTAGCTGAGAAAGATGCAAACCAGACTCGCTTGCAACAGCTTCTTTTAGG
CGCTGAGCTGAATAGGGACCTGCGCTTCAGGCTTAAGCATCTTCTCAGGATGTATGCAAATAAG
CAGGAGCGGCTTCCCAATTTCCTGGAGTTAATCAAGATGATAAGGGAGGAAGAGGATTGGGATG
ATGCTTTTATTAAACGGAAGCGGCCGAAAAGGTCTGAGCCAATAATGGAGAGGGCAGCCAGCCC
TGTGGCATTTCAGGGCGCCCAGCCAATAGCAATCAGCAGTGCTGACTGTAACTGCAACGTGATA
GAAATAGATGATACCCTTGATGACTCTGATGAGGATGTGATCCTGGTGGTGTCTCTGTACCCTT
CACTGACACCTACAGGTGCCCCTCCCTTCAGAGGAAGAGCCAGACCTCTGGATCAAGTGCTGGT
TATTGATTCCCCCAACAATTCTGGGGCTCAGTCTCTTTCTACCAGTGGTGGTTCTGGGTATAAG
AATGATGGTCCTGGGAATATTCGTAGAGCCAGGAAGCGAAAATACACAACCCGCTGCTCATATT
GTGGGGAGGAGGGCCACTCAAAAGAAACCTGTGACAATGAGAGCAACAAGGCCCAGGTTTTTGA
GAATCTGATCATCACCCTGCAGGAGCTGACACATACAGAGGAGAGGTCAAAAGAGGTCCCTGGA
GAACACAGTGATGCTTCTGAGCCACAGTAAGGATCTAGTCCAGCCCTAAATGAGTCCTTGACTG
TATTCAGAGTCTGGTAATGGGAATAACAGGAGAGGGGGGTGGGTTTCTAACTGCATGAATTAAT
CCACAAAGCAGTTTTCCTTTGGGAAGGAGAAGAGGTCTTGCATACCAGCACAGTGGATGGGGAA
TGGTGTGACCTCTGTCCCTGCTCTCTTCTCTGCTGGCTTAAGGGTCTATTCTCCATGTGTCTAT
TTCTTTGATGACTTTATACTTTTTATGAAAGGAGCATCTTTTCATTAAACCTTCAAAAATAAAG
GAAGATACAAAAACTAAAGTACAAATTACCTGAAACTCAGCACCCTTTTGTAACCATTGTCAGC
CCTTTGGTGAATGTCCTTCCAGATATCTCCCTGTACCTGTGTACCCAGATAGATATATGTATAG
ATAAGAGTGACCAAATATAAGTGCTGTTCTATACTGTGTATTTTTCACCAAATAATGTATCTCG
TGGACTTCTATGTCGATGAATATATATAAATATCTAACTTCATGTCTCTGTGTGATGTTACTTT
TAGAAAGATAAAGAAAAATGAAACTAAATATAGAAGCTATAAGGGGGGGTCATACCATGAGGAG
GGGTTTTTATCGACCTCATTTATAGGAAAGGAGAAAGGAAGCTGAAATGGACTGAATATCTCCC
ATACAACCCCTTAACACAACTGACCTGTCTCCTAGGTCATAGAGCCAACCCCTGCACCCATGAG
TTAATAATGTTCCAATGTTTTCTTCTTGAACATATCATGAGACATCAGATGGGGAACGGGGGGG
GGACAAAAATTGAAAATGGGTATTCCAGAGGCTCCATTCCTGTTTGTATTGGGAAGGGACAACT
ACTCCTGCCCGATCTCTTGACCTCAGATTAGAGGGTGATAAAAGATGACATGTGACCTCTATCC
CTGAGGGTCCCAAGTTTCTGGTAGGTACAGTAGTCCCTATCTTCACGAAGAGGTCAAAACTGGC
AAGGAGCAGGGGGGAATGATTTCATTTAAGGCAAGGAGTGGAGTGAAATGAATGCAGACCTGAG
GACCTGAGGGAGTTTGCCTGGGAGGAAAGAGGGGGTCCCTGGGCTGACAAGACAGGGTGTGCAG
CAGCCAGAGCTGGCACCTCAGGGAAAGGAGCACAGAGCTATGTAGGTGGAGGACAGGAGGACAG
GGGAGAGGGGGAGGGGTATGATGGCCAAGCTGGTGGGCTCCCATCTACAGTGACAGGGACAGGA
GGCCTGGCAGAAACTGCAGACCCACAGGTTTCACACAGAACCCTGGGCTATGTTGTAGGGGGAG
TGGAGGTTAGGACTCTAATTAGGCTAGCAGGCTGATGGGGACAAAAGGGTCTAGGCTGAGGCCC
CCAGGGAGGAGTAGAAGCCACACACTGCAAGGAGCCCAATGCAGCCTTCCCGGGGCTGCCAGGC
CCAGAATCCACCTTGGAGTGCTCTCCTTCCAGAATCACCTCCAACTCTGCTCTTCCCTGGGCCC
TTTCCCTTGCTTCATCCACATCCCCATAATCCCATTCCTATCCCCACTGCTCCATCCATATCCC
CACAATCTCATTCCTATCACCCCTGCTCCATCCATATACCTACAATTACATTCCTATCCCCTCT
GCTCAATCTATATCCTCACAGTCTCATTCATACCCCCCTGCTCCATCCATATCCCCACAATCCC
ATTCAGTTCCCCCCTGCTCCATGCACATCCCCACAATCTCATTCAGATCCTTCCTGCTCCATCT
GTATCCTCAGTCTCATTCCTATCCGCCCTGCTCCATCCATATCCCCACAATCTCATTCAGATCC
CCACTGCCCCATCCATATCCCCACAATCTCATTCATATCCCCCCTGCTCCATCCATATCCCCAC
AATCTCATTCAGATCCCCCCTGCTTCATCCATATCCCCGCAATCTCATTCCTATCCCCCTTGCT
CCATCCATTTTATCACAGTCTCACTTTACCACCACTCCCCTTCCCTGGAGCCACACTCACCTCT
TGGTGGAGGGAGATGGAGGCTCAGCTTCATGTGCTCTGCCCATCACCACCTCCCCCTCCTCCGC
ATTCCATGATGGCCTTAAGCCTCAGCCTCCTTAATGCTCATGGCCAGTAGACTGGGAGGGCCCC
TCTGCCTCTGACCTTTTAGCTGAGAACTGAGCAGGAGTAAAGGTCCAAGAGACCCACTTTTTGC
ATCCCTCTGGGGCACCTCTGGCTCCTGGCAGCCACCTCCATCTCACCACAGGCAAAGAGGACCC
CACCACCCACGCAGGAGGCAGCTTCATCAAGCCCCCAAAGCCACAGGGTCCCCCAACACTACCT
GGCTCTTACAGCCCCCTATTCCTCCCTACCTCTCCCAAAGTCTATCCTTGGAGGGGATTTGCCC
ACTCATCTCTCCAAGATTAGAATATAGTTCCCCTTGCTGCTCACCTTTTCTCAAATTCACTCTA
TAAATGCTATTGAATGATTTACCTAGATATGCTGTCATAATTTCTTTCTGAAACCAGGTAGAGT
GAAAAGAGGAATAAATGCTACACCTACCCCCATCCTCCTTTTCACTGGAGTTAGCTTGGAGGTT
CAAGATCATTACTTTGAAACCCTGCTGTGTAATTCATCCCCTTTCCTTCCCCCCCATCCTGTCC
TCTGTTGTGTAAACCTGAAACTGTCTAAATTTTTACTTCACCAAAATGATGCAAAAGTGAGACT
TTTTATTTCATTTTGTGTCACACTGGCTTTCCTTTATTCAAGAAGTATGTATTTTCCCTAATTG
GAAGACAAAGAAGACTTGGAGTGATTACAGGGTTAAGTGAAAGAAGGCTTTTAAAAAATTTTGT
GTTTGATACCCTTCATTTATAATTATTGTTTTTCCTTTCCTTTCTCCCTTCATTCTCATTAGTC
GCCAAGAGATGAAAATTGCTCTTTTGTCTTGTCAGGAGAAACCAGCCTTTGAATGACCTCCTTT
TGCAATATCTCCCTCCTTCTTGATACTATTTTCCCTTGTTTCCATGACATCCATCTCATGGTTT
CCCTCTCCCAGATCTTTTTGATGCCTACTTCTCAGTGTCTTTTGCCGAATATTCTTTCCCTTCC
TGATCCTTCCACAATAGCAATAAAAATTAAAATCACTGCAAGTGCGATTTATTCCAAGCTTATT
ACATGCCAGGCACCCAGTGCCAAGCCTTTAAAATGCATTATTAGCTTTTCATAGCAACTCCCTT
AAGATAAGCATGACTTTCTATTTCTAACTTGCTATTAATTTAATTACTATTAATTGACACATAT
TTCAGATGATGAAACAGGCTGGGAAGTTAGGAAACGTACTTAGGGTCATGTAATTATTTAGTGG
TACAGTCAAGGATAAGACACTGGACTGACTGATCCCAAAGTCTGTGTTCCTTACTTGAGTTAGC
CATCATGTGCACAGCACCCCATGAGGTAGGTGTTACTATTATATAAAGATGATACATGAGGAAA
GCAAGGTCAACAGACATAATTAGCCAAATATCATAGCAGCAAGTGGCTTGTGCGCCATACACAA
GGATGCAGCCTTTAAGGAATACTTGTGTGACACAGGCCACCTTTCTTTCACATCCTCTTGTTGC
AGCTATCCTTCCTGCTGCCTGGCAACCATCCCCTCCCCCTTCAGAGTTGCATTATCACATTCAG
TTCAGGTATCAAGTTTCCAGTCTATGCTTTTGGTGCAAATGGTTTTGAATTTGATGTATGCAAG
AGGAGACAGCTGCAACAATGAGTGGAGGAGAGATAAATTGTTCAATTCATGGTGCTGGGGGGAA
CTTCATTACCTGATTGGAAAAAAGGTCAGTTTCCTTTCTCCCATGACACTAAATATGAATCCCA
GATACATTTGAGCAGTAAATGTAGATTTTATGCAATTATGTATTAATTCTTCTTTAATCGTATA
TTTTGTTATAAAATGAATAAAAAGAATCAAATGTTCAAAAGCAACCCCTTTTAAAGCTGCAACA
CAATACATGTTAAACCTCTGGGTTGGAGAGAACTTTCTATGGTTAAGAGTAATGAAAGAAAGTA
TAAAAGAAAAGACTGATAACTCAGAAGACAGCATTAACAGAAATAAAATACCAACAGTAAGCTG
AGAAACATTGGCAACAAATATCATGGAAAGGGGGCAGGGCTGGCAACAAATAAGAGAAGCAATA
ATAACAGCAAATCTGTATTGTGTTTAGATAGTTAACATTTATTAAGGTCTTACAAAGTGCCAGG
CATATTCTACAAGCTCTACATGGCTTTATACTTCATTTCATTCTTACAACAAGCCCTGAGATAG
ATCTTATCTTAAAATTTCCACATTCTAAAACACTCTTTAAGCGGGGGGCGGGGGGAGCAGAGGA
AAGTGCATAAAATATAAATTTACAGCTTAACAAATTATTATAAAGCAAATCACCATAAAGATCA
AGAAACAGAACAGATCAGAACTCCAGAAATTCCCATAAGTCCTTGCCCAATCACAACCTCTTTC
CTCTCTCCAAAACAAAACAAAACACTCTCATGACAGTTTTAGCTGTTGCTTTCTTACTTTCCTT
TATAGCTTTACCACTCAAATATAGATGCCCAAACACTACTGTTTCTGGAGCTTTATGTAAATAG
AACTATAATGCATATATCCTTCTATATCCAGCTCATTGCCCTTACAATTATGCTTCTGAGATTC
AACCTGGTTGCATGCGGCATCGGTTCATCATTCTCAGTATTGTGTTACAGCTTTCCATTCTACG
ACTTTACAAGAAATTATCCTTTTACTGTCGGTGGACATTTGGACTGTTTCCAGTTGGGGACAAT
TATGAAAAATGTTGCTAAGAACATGTTTTTAATGTCTCCTGGTACATATGTGCACACACAAGGT
ATATATGTAGGAGAGGAATTGCTGGCTCATAGATTGTGTATATTTTCAACTTCACTAGATACCA
CCAAACTGTATATCAAAGTTGTACCAATTCCCACTTCCACCATCAATGTTTGAGAGTTCCTGTT
GCTCCACATCCTCACAAACACTTGACATTGTCAACAAAGCTTCATAACTTTTGCTTGAGGTTTT
GTACGTCTATTATTACATTTAGTTCAAGGTAATTGTGTATACTACTATAAATTAAATATTGGTT
TAAATTTCATTTTCTAAGGGCTTGTTGATGGTATATAGAAATATAACTGGTCTTTTGATGTTGA
TATTGTACACTGACTTTGCTAATCTCTTAATAATTTTAATCTGTAGCTTCCTTAGAATTTTCTG
CATACACAAGCATGTCATCTGTGAATGATGGTAGTTTTATTTCTTCTTTCCCAATCCATATACA
TTTCTTTTTCTTACCTTACTGCATCGACTGGGACCTAGAGTACAACTAGTGAGAAGAGACATTC
TTGTCCTATTCCTGAACTCAAGGGACCACTTTGAGCAATTCAACATTAAGTGGATGCTTGCTGC
AGGTTTTTAGTAAATACCACTTATCAGTTTAAAAATGTTTCCTTCCATTCCTAATTTACCATAA
GTTTTTAAAATAATCAATGGATGCTGAATTTTATGAAATGCTTTTTCTGTATCTATTATATATG
CTTTTTTCTCATTTATTAGTTAAAATGCTAAATTACATTATTTGGGTTTCTAATAATAAACCAA
CCAGGCATTCCTGAAATAAACAAGATTTGGTCCTGATTTATTACAATTGTTATATATTGCTGGA
TTCAATTTGCTAATATTTTGTTTAGGATTTTTAGATCTATGTCTGTAAGAGAGATTCACCTGTA
ATTTTCCTTTCTGTATAATGTCTTTGTGAGATTTTGGTATCAAAGGTTTGCTGGCCTCCTAAAA
CTAGTTGAGGAATACAATTCTTCTTTGGCTTTCTTCATTTAAAAACCAGGCAACTGAGGTCCAA
GGTGTTTAGATTATTTTTCATAACTGCATTAAATCCAATTATTTACTTGTATCCATGATTTATT
AAACCAGCCTCTTTAGAGCCA

hide sequence

RefSeq Acc Id:

XM_054327572 ⟹ XP_054183547

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	102,543,724 - 102,547,043 (+)	NCBI

Protein Sequences


Protein RefSeqs	NP_001137450	(Get FASTA)	NCBI Sequence Viewer
	XP_011529314	(Get FASTA)	NCBI Sequence Viewer
	XP_054183547	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000473824.1
	ENSP00000498828
	ENSP00000498828.1
GenBank Protein	P0CG32	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_001137450 ⟸ NM_001143978

- UniProtKB:

P0CG32 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MASITACVGNSRQQNAPLPPWAHSMLRSLGRSLCPLVVKMAERNMKLFSGRVVPAQGKETFENW
LIQVNEVLPDWSMSEEEKLKRLMKTLRGPAREVMRLLQAANPNLSVADFLRAMKLVFGESESSV
TAHGKFFNTLQAQGEKASLYVIRLEVQLQNAIQAGILAEKDANQTRLQQLLLGAELNRDLRFRL
KHLLRMYANKQERLPNFLELIKMIREEEDWDDAFIKRKRPKRSEPIMERAASPVAFQGAQPIAI
SSADCNCNVIEIDDTLDDSDEDVILVVSLYPSLTPTGAPPFRGRARPLDQVLVIDSPNNSGAQS
LSTSGGSGYKNDGPGNIRRARKRKYTTRCSYCGEEGHSKETCDNESNKAQVFENLIITLQELTH
TEERSKEVPGEHSDASEPQ

hide sequence

RefSeq Acc Id:	XP_011529314 ⟸ XM_011531012
- Peptide Label:	isoform X1
- UniProtKB:	P0CG32 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MASITACVGNSRQQNAPLPPWAHSMLRSLGRSLCPLVVKMAERNMKLFSGRVVPAQGKETFENW LIQVNEVLPDWSMSEEEKLKRLMKTLRGPAREVMRLLQAANPNLSVADFLRAMKLVFGESESSV TAHGKFFNTLQAQGEKASLYVIRLEVQLQNAIQAGILAEKDANQTRLQQLLLGAELNRDLRFRL KHLLRMYANKQERLPNFLELIKMIREEEDWDDAFIKRKRPKRSEPIMERAASPVAFQGAQPIAI SSADCNCNVIEIDDTLDDSDEDVILVVSLYPSLTPTGAPPFRGRARPLDQVLVIDSPNNSGAQS LSTSGGSGYKNDGPGNIRRARKRKYTTRCSYCGEEGHSKETCDNESNKAQVFENLIITLQELTH TEERSKEVPGEHSDASEPQ hide sequence

Ensembl Acc Id:

ENSP00000498828 ⟸ ENST00000650639

Ensembl Acc Id:

ENSP00000482195 ⟸ ENST00000611638

Ensembl Acc Id:

ENSP00000473824 ⟸ ENST00000537356

RefSeq Acc Id:	XP_054183547 ⟸ XM_054327572
- Peptide Label:	isoform X1
- UniProtKB:	P0CG32 (UniProtKB/Swiss-Prot)

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P0CG32-F1-model_v2	AlphaFold	P0CG32	1-403	view protein structure

Promoters

RGD ID:

6809004

Promoter ID:

HG_KWN:67649

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

NM_001143978, OTTHUMT00000057759, OTTHUMT00000057760

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	103,243,624 - 103,244,124 (+)	MPROMDB

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:32459	AgrOrtholog
COSMIC	ZCCHC18	COSMIC
Ensembl Genes	ENSG00000166707	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000422784	ENTREZGENE
	ENST00000537356.3	UniProtKB/Swiss-Prot
	ENST00000650639	ENTREZGENE
	ENST00000650639.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000166707	GTEx
HGNC ID	HGNC:32459	ENTREZGENE
Human Proteome Map	ZCCHC18	Human Proteome Map
InterPro	PNMA	UniProtKB/Swiss-Prot
	PNMA_C	UniProtKB/Swiss-Prot
KEGG Report	hsa:644353	UniProtKB/Swiss-Prot
NCBI Gene	644353	ENTREZGENE
OMIM	301122	OMIM
PANTHER	PTHR23095	UniProtKB/Swiss-Prot
	ZINC FINGER CCHC DOMAIN-CONTAINING PROTEIN 18	UniProtKB/Swiss-Prot
Pfam	PNMA	UniProtKB/Swiss-Prot
PharmGKB	PA162409569	PharmGKB
UniProt	P0CG32	ENTREZGENE, UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-02-16	ZCCHC18	zinc finger CCHC-type containing 18		zinc finger, CCHC domain containing 18	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 Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

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