CCDC160 (coiled-coil domain containing 160)

Gene: CCDC160 (coiled-coil domain containing 160) Homo sapiens

Analyze

Symbol:

CCDC160

Name:

coiled-coil domain containing 160

RGD ID:

3379453

HGNC Page

HGNC:37286

Description:

ASSOCIATED WITH Autism; autistic disorder; genetic disease; INTERACTS WITH 17beta-hydroxy-5alpha-androstan-3-one; all-trans-retinoic acid; benzo[a]pyrene

Type:

protein-coding

RefSeq Status:

VALIDATED

Previously known as:

coiled-coil domain-containing protein 160; UPF0625 coiled-coil domain-containing protein ENSP00000359845

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	134,237,182 - 134,246,842 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	134,237,047 - 134,246,842 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	133,371,212 - 133,380,872 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	133,198,743 - 133,207,474 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	133,757,928 - 133,766,658 (+)	NCBI		Celera
Cytogenetic Map	X	q26.2	NCBI
HuRef	X	122,768,714 - 122,777,335 (+)	NCBI		HuRef
CHM1_1	X	133,282,850 - 133,291,579 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	132,562,356 - 132,572,021 (+)	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)

genetic disease (IAGP)

HRPT-related hyperuricemia (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

4,4'-sulfonyldiphenol (ISO)

all-trans-retinoic acid (EXP,ISO)

benzo[a]pyrene (EXP)

bisphenol A (ISO)

butanal (EXP)

carbon nanotube (ISO)

chlordecone (ISO)

gentamycin (ISO)

mono(2-ethylhexyl) phthalate (ISO)

nickel atom (EXP)

pentanal (EXP)

pirinixic acid (EXP)

propanal (EXP)

sunitinib (EXP)

titanium dioxide (ISO)

triclosan (EXP)

valproic acid (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (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:12477932	PMID:15772651	PMID:21873635	PMID:24556642	PMID:31586073

Genomics

Comparative Map Data

CCDC160
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	134,237,182 - 134,246,842 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	134,237,047 - 134,246,842 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	133,371,212 - 133,380,872 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	133,198,743 - 133,207,474 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	X	133,757,928 - 133,766,658 (+)	NCBI		Celera
Cytogenetic Map	X	q26.2	NCBI
HuRef	X	122,768,714 - 122,777,335 (+)	NCBI		HuRef
CHM1_1	X	133,282,850 - 133,291,579 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	132,562,356 - 132,572,021 (+)	NCBI		T2T-CHM13v2.0

Ccdc160
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	51,880,045 - 51,888,351 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	51,880,077 - 51,888,345 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	52,791,200 - 52,799,474 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	52,791,200 - 52,799,468 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	50,144,377 - 50,152,645 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	49,035,827 - 49,044,095 (+)	NCBI		MGSCv36	mm8
Celera	X	40,206,719 - 40,214,990 (+)	NCBI		Celera
Cytogenetic Map	X	A5	NCBI
cM Map	X	29.19	NCBI

Ccdc160
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	137,389,066 - 137,399,452 (+)	NCBI		GRCr8
mRatBN7.2	X	132,468,141 - 132,478,616 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	132,468,213 - 132,478,431 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	134,633,168 - 134,640,840 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	138,215,112 - 138,222,784 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	135,780,835 - 135,788,507 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	140,168,880 - 140,177,402 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	140,175,861 - 140,176,829 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	140,215,829 - 140,226,017 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Celera	X	131,369,245 - 131,377,763 (+)	NCBI		Celera
Cytogenetic Map	X	q36	NCBI

Ccdc160
(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_004955473	725,193 - 736,944 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955473	725,822 - 742,698 (-)	NCBI	ChiLan1.0	ChiLan1.0

CCDC160
(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	133,669,620 - 133,680,173 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	133,673,219 - 133,683,772 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	123,383,867 - 123,393,449 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	133,683,665 - 133,692,595 (+)	NCBI	panpan1.1	PanPan1.1	panPan2

CCDC160
(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	104,944,321 - 104,951,481 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	91,053,414 - 91,061,854 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	106,802,809 - 106,811,262 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	106,800,466 - 106,811,632 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	104,215,955 - 104,224,394 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	106,081,926 - 106,090,371 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	105,867,187 - 105,875,632 (+)	NCBI		UU_Cfam_GSD_1.0

Ccdc160
(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	103,081,585 - 103,093,478 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936691	863,903 - 875,565 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CCDC160
(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	110,159,912 - 110,170,350 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	110,159,833 - 110,170,354 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	126,245,597 - 126,256,152 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

CCDC160
(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	109,391,323 - 109,401,455 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	109,400,094 - 109,401,068 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	46,983,528 - 46,992,970 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Ccdc160
(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_004624797	13,921,830 - 13,932,973 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in CCDC160
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133909683-135211108)x1	copy number loss	See cases [RCV000050881]	ChrX:133909683..135211108 [GRCh38] ChrX:133043710..134345039 [GRCh37] ChrX:132871376..134172705 [NCBI36] ChrX:Xq26.2-26.3	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 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:116264813-155980575)x1	copy number loss	See cases [RCV000051728]	ChrX:116264813..155980575 [GRCh38] ChrX:115396069..155210240 [GRCh37] ChrX:115310097..154863434 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 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 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26101-155999293)x3	copy number gain	See cases [RCV000052322]	ChrX:26101..155999293 [GRCh38] ChrX:76101..155228958 [GRCh37] ChrX:16101..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2790845-155699618)x3	copy number gain	See cases [RCV000052359]	ChrX:2790845..155699618 [GRCh38] ChrX:2708886..154929279 [GRCh37] ChrX:2718886..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:237659-156022362)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052327]\|See cases [RCV000052327]	ChrX:237659..156022362 [GRCh38] ChrX:154326..155252027 [GRCh37] ChrX:94326..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:114533139-156022206)x1	copy number loss	See cases [RCV000134947]	ChrX:114533139..156022206 [GRCh38] ChrX:113767592..155251871 [GRCh37] ChrX:113673848..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79093152-156003229)x1	copy number loss	See cases [RCV000136083]	ChrX:79093152..156003229 [GRCh38] ChrX:78348649..155232894 [GRCh37] ChrX:78235305..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111745722-154555423)x3	copy number gain	See cases [RCV000136030]	ChrX:111745722..154555423 [GRCh38] ChrX:110988950..153783638 [GRCh37] ChrX:110875606..153436832 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 Xq26.2-26.3(chrX:133960528-134514299)x3	copy number gain	See cases [RCV000137403]	ChrX:133960528..134514299 [GRCh38] ChrX:133094555..133648329 [GRCh37] ChrX:132922221..133475995 [NCBI36] ChrX:Xq26.2-26.3	pathogenic
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq23-27.1(chrX:117260292-140201321)x3	copy number gain	See cases [RCV000138145]	ChrX:117260292..140201321 [GRCh38] ChrX:116394255..139283477 [GRCh37] ChrX:116278283..139111143 [NCBI36] ChrX:Xq23-27.1	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq26.2-26.3(chrX:133532321-137519462)x2	copy number gain	See cases [RCV000140818]	ChrX:133532321..137519462 [GRCh38] ChrX:132666349..136601621 [GRCh37] ChrX:132494015..136429287 [NCBI36] ChrX:Xq26.2-26.3	likely pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [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:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [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:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:77670699-155233731)x1	copy number loss	See cases [RCV002285075]	ChrX:77670699..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [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 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 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 Xq26.2-26.3(chrX:133190453-133660600)x3	copy number gain	See cases [RCV000446293]	ChrX:133190453..133660600 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:133107292-134142245)x2	copy number gain	See cases [RCV000446156]	ChrX:133107292..134142245 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:105694656-155224707)x1	copy number loss	See cases [RCV000445891]	ChrX:105694656..155224707 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.2-26.3(chrX:132183437-134848915)x2	copy number gain	See cases [RCV000512017]	ChrX:132183437..134848915 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
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 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..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 Xq26.2-26.3(chrX:133081342-135086194)x0	copy number loss	See cases [RCV000510757]	ChrX:133081342..135086194 [GRCh37] ChrX:Xq26.2-26.3	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 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-26.3(chrX:126759247-135790885)x1	copy number loss	not provided [RCV000684387]	ChrX:126759247..135790885 [GRCh37] ChrX:Xq25-26.3	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.1-28(chrX:99324651-155233731)x1	copy number loss	not provided [RCV000684363]	ChrX:99324651..155233731 [GRCh37] ChrX:Xq22.1-28	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:117998704-140159954)x3	copy number gain	not provided [RCV000684377]	ChrX:117998704..140159954 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq24-27.1(chrX:120777368-139345946)x1	copy number loss	not provided [RCV000684380]	ChrX:120777368..139345946 [GRCh37] ChrX:Xq24-27.1	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autism [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NM_001353453.3(CCDC160):c.854del (p.Leu285fs)	deletion	not provided [RCV000929223]	ChrX:134245654 [GRCh38] ChrX:133379684 [GRCh37] ChrX:Xq26.2	benign
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.32-28(chrX:92814516-155233731)x1	copy number loss	not provided [RCV000845672]	ChrX:92814516..155233731 [GRCh37] ChrX:Xq21.32-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	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 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_001353453.3(CCDC160):c.20A>T (p.His7Leu)	single nucleotide variant	Inborn genetic diseases [RCV001265767]	ChrX:134244820 [GRCh38] ChrX:133378850 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq26.2-26.3(chrX:132268495-134235471)x2	copy number gain	not provided [RCV001260046]	ChrX:132268495..134235471 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
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 Xp22.33-q28(chrX:1-155270560)	copy number gain	46,XX sex reversal 1 [RCV002280665]\|Hypotonia [RCV002280667]\|Trisomy X syndrome [RCV002280666]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-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
NC_000023.10:g.(?_132670132)_(133634127_?)del	deletion	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV001390562]	ChrX:132670132..133634127 [GRCh37] ChrX:Xq26.2-26.3	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 Xq26.2-26.3(chrX:133107292-134142245)	copy number gain	not specified [RCV002053187]	ChrX:133107292..134142245 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
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 Xq26.2-26.3(chrX:133190453-133660600)	copy number gain	not specified [RCV002053188]	ChrX:133190453..133660600 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
NC_000023.10:g.(?_132670152)_(133634107_?)dup	duplication	Partial hypoxanthine-guanine phosphoribosyltransferase deficiency [RCV003122161]	ChrX:132670152..133634107 [GRCh37] ChrX:Xq26.2-26.3	uncertain significance
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:1-155270560)	copy number loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-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 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_001353453.3(CCDC160):c.172G>C (p.Glu58Gln)	single nucleotide variant	not specified [RCV004204295]	ChrX:134244972 [GRCh38] ChrX:133379002 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.707T>G (p.Leu236Arg)	single nucleotide variant	not specified [RCV004074191]	ChrX:134245507 [GRCh38] ChrX:133379537 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.302C>A (p.Ser101Tyr)	single nucleotide variant	not specified [RCV004270087]	ChrX:134245102 [GRCh38] ChrX:133379132 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.67C>G (p.Leu23Val)	single nucleotide variant	not specified [RCV004274605]	ChrX:134244867 [GRCh38] ChrX:133378897 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.581C>T (p.Thr194Met)	single nucleotide variant	not specified [RCV004263286]	ChrX:134245381 [GRCh38] ChrX:133379411 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.423G>A (p.Met141Ile)	single nucleotide variant	not specified [RCV004302098]	ChrX:134245223 [GRCh38] ChrX:133379253 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.107C>T (p.Thr36Met)	single nucleotide variant	not specified [RCV004341644]	ChrX:134244907 [GRCh38] ChrX:133378937 [GRCh37] ChrX:Xq26.2	likely benign
GRCh37/hg19 Xq26.1-26.3(chrX:129627661-135812056)x1	copy number loss	not provided [RCV003483932]	ChrX:129627661..135812056 [GRCh37] ChrX:Xq26.1-26.3	pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_001353453.3(CCDC160):c.462G>A (p.Leu154=)	single nucleotide variant	not provided [RCV003439873]	ChrX:134245262 [GRCh38] ChrX:133379292 [GRCh37] ChrX:Xq26.2	likely benign
NM_001353453.3(CCDC160):c.198T>C (p.Tyr66=)	single nucleotide variant	not provided [RCV003439872]	ChrX:134244998 [GRCh38] ChrX:133379028 [GRCh37] ChrX:Xq26.2	likely benign
NM_001353453.3(CCDC160):c.937TCA[1] (p.Ser315del)	microsatellite	not provided [RCV003439874]	ChrX:134245735..134245737 [GRCh38] ChrX:133379765..133379767 [GRCh37] ChrX:Xq26.2	uncertain significance
GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	copy number loss	not specified [RCV003986202]	ChrX:103405294..155233731 [GRCh37] ChrX:Xq22.2-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	copy number loss	not provided [RCV004442761]	ChrX:121656905..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	copy number loss	See cases [RCV004442781]	ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_001353453.3(CCDC160):c.347A>G (p.Asp116Gly)	single nucleotide variant	not specified [RCV004434974]	ChrX:134245147 [GRCh38] ChrX:133379177 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.280A>G (p.Asn94Asp)	single nucleotide variant	not specified [RCV004434973]	ChrX:134245080 [GRCh38] ChrX:133379110 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.34A>G (p.Met12Val)	single nucleotide variant	not specified [RCV004434975]	ChrX:134244834 [GRCh38] ChrX:133378864 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.836G>A (p.Ser279Asn)	single nucleotide variant	not specified [RCV004434977]	ChrX:134245636 [GRCh38] ChrX:133379666 [GRCh37] ChrX:Xq26.2	uncertain significance
NM_001353453.3(CCDC160):c.452A>G (p.Asn151Ser)	single nucleotide variant	not specified [RCV004434976]	ChrX:134245252 [GRCh38] ChrX:133379282 [GRCh37] ChrX:Xq26.2	uncertain significance

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	192
Count of miRNA genes:	143
Interacting mature miRNAs:	153
Transcripts:	ENST00000370809, ENST00000517294
Prediction methods:	Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

117

Low

567

243

444

162

1633

301

3471

272

1040

465

140

117

1245

Below cutoff

1457

1489

915

192

504

191

2304

1407

195

279

951

979

1415

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001101357	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001353453	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001393996	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005262410	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004409	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017958	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471107	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF547991	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459428	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000370809 ⟹ ENSP00000359845

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	134,237,182 - 134,246,842 (+)	Ensembl

RefSeq Acc Id:

ENST00000517294 ⟹ ENSP00000427951

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	134,237,047 - 134,246,207 (+)	Ensembl

RefSeq Acc Id:

ENST00000695460 ⟹ ENSP00000511932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	134,237,182 - 134,246,842 (+)	Ensembl

RefSeq Acc Id:

ENST00000695461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	134,237,213 - 134,243,319 (+)	Ensembl

RefSeq Acc Id:

NM_001101357 ⟹ NP_001094827

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	134,237,182 - 134,246,207 (+)	NCBI
GRCh37	X	133,371,077 - 133,380,237 (+)	NCBI
Build 36	X	133,198,743 - 133,207,474 (+)	NCBI Archive
Celera	X	133,757,928 - 133,766,658 (+)	RGD
HuRef	X	122,768,714 - 122,777,335 (+)	RGD
CHM1_1	X	133,282,850 - 133,291,579 (+)	NCBI
T2T-CHM13v2.0	X	132,562,356 - 132,571,388 (+)	NCBI

Sequence:

show sequence

AACCGCGCGGCCCGCGCTGGCGCTGCACTGCGGTGGCTCAGCCCGGAGCCGGCCCGGCGGGGTC
GCGGTGGCCAGAGCCGAACGGGGGGCTGCCGCGCGCGGGTGGTGGTTGTCTTTGAGGAAGAGAG
GTTCGGGCTCTCCAGACGGCATCCACGCTTCCAGATATTGGAAGAGGTGCCTGGAGAAATGGAT
GCTAGAAGAAAACACTGGAAGGAGAATATGTTTACTCCTTTTTTTAGTGCACAAGATGTTCTAG
AAGAGACTTCTGAGCCTGAATCTTCTTCTGAACAAACGACTGCAGATAGCAGCAAGGGAATGGA
AGAAATTTATAATTTGTCCAGTAGAAAGTTTCAGGAAGAAAGTAAATTTAAGAGGAAAAAATAT
ATTTTCCAACTAAATGAAATAGAACAAGAACAAAATTTAAGAGAGAACAAGAGAAACATTTCAA
AGAATGAAACAGACACAAATTCTGCATCCTATGAATCATCTAATGTGGATGTTACAACAGAAGA
AAGCTTTAACAGCACAGAAGATAACTCTACCTGCAGTACAGATAACTTACCAGCTCTACTAAGA
CAAGACATAAGAAAGAAATTTATGGAAAGAATGTCTCCAAAACTTTGCCTGAATCTTTTGAATG
AAGAACTGGAAGAACTTAATATGAAATACAGAAAAATAGAAGAGGAATTTGAAAATGCTGAAAA
AGAACTTTTGCACTACAAAAAAGAAATATTCACAAAACCCCTAAATTTTCAAGAAACAGAGACG
GATGCTTCAAAAAGTGACTATGAACTTCAAGCTTTAAGAAATGACCTGTCTGAAAAAGCAACAA
ATGTAAAAAACTTAAGTGAACAGCTCCAGCAAGCCAAAGAAGTCATCCACAAATTGAACCTAGA
GAACAGAAATTTAAAAGAAGCTGTTAGGAAGTTAAAGCATCAAACCGAGGTTGGAAATGTGCTC
CTAAAAGAAGAAATGAAATCATATTATGAATTAGAAATGGCAAAGATCCGCGGAGAGCTCAGTG
TCATCAAGAATGAACTGAGAACTGAGAAGACCCTACAAGCAAGAAATAACAGAGCCTTGGAGTT
GCTTAGAAAATACTATGCTTCTTCAATGGTAACATCATCAAGTATCCTTGACCACTTTACTGGG
GATTTTTTTTAAAACTTAAAAAAATCCTTCCAGTAGGCAAGTCATTGAGCCAAATCAGTGTTTA
TTGTATTTTCTTTGCGTATTACTTAAAATATATGTAATAGGATGTTATTTTCATTTTCAGTAAA
TCACAGTATCTATAAAACATATACATGTTTCCAAGCTTCTGCTTTCTCTTTCTGATGAAGTTAT
TGCAGGAATACAAATGGAAACGAAGCTTTGGAAATCTCATATCAGAGTGTGTGTGTGTGTGTGT
GTGTGTGTGTGTACACACACACATATATTCACTCAAAAACACATAATGATTCACCAAATCATTT
ATGAATACAAATCAGCAATTTTGTGATCTCGTAAGCAAATATGTCTTTGGCACGTGAATATTTT
TCCATCTGTGTTCATTGATGTTAACAATAAAAATCTTGTTTATGTGTATAAGCCTAA

hide sequence

RefSeq Acc Id:

NM_001353453 ⟹ NP_001340382

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	134,237,182 - 134,246,842 (+)	NCBI
T2T-CHM13v2.0	X	132,562,356 - 132,572,021 (+)	NCBI

Sequence:

show sequence

AACCGCGCGGCCCGCGCTGGCGCTGCACTGCGGTGGCTCAGCCCGGAGCCGGCCCGGCGGGGTC
GCGGTGGCCAGAGCCGAACGGGGGGCTGCCGCGCGCGGGTGGTGGTTGTCTTTGAGGAAGAGAG
GTTCGGGCTCTCCAGACGGCATCCACGCTTCCAGGGAGGGAGGCGGAATTTTCTTTTTTCCAGT
TCAAACTGGAGAAGGAGGGCAGAGATATCCAGTAGACAGAAGATCTTGGACCCCAGGAAGTATA
TTGGAAGAGGTGCCTGGAGAAATGGATGCTAGAAGAAAACACTGGAAGGAGAATATGTTTACTC
CTTTTTTTAGTGCACAAGATGTTCTAGAAGAGACTTCTGAGCCTGAATCTTCTTCTGAACAAAC
GACTGCAGATAGCAGCAAGGGAATGGAAGAAATTTATAATTTGTCCAGTAGAAAGTTTCAGGAA
GAAAGTAAATTTAAGAGGAAAAAATATATTTTCCAACTAAATGAAATAGAACAAGAACAAAATT
TAAGAGAGAACAAGAGAAACATTTCAAAGAATGAAACAGACACAAATTCTGCATCCTATGAATC
ATCTAATGTGGATGTTACAACAGAAGAAAGCTTTAACAGCACAGAAGATAACTCTACCTGCAGT
ACAGATAACTTACCAGCTCTACTAAGACAAGACATAAGAAAGAAATTTATGGAAAGAATGTCTC
CAAAACTTTGCCTGAATCTTTTGAATGAAGAACTGGAAGAACTTAATATGAAATACAGAAAAAT
AGAAGAGGAATTTGAAAATGCTGAAAAAGAACTTTTGCACTACAAAAAAGAAATATTCACAAAA
CCCCTAAATTTTCAAGAAACAGAGACGGATGCTTCAAAAAGTGACTATGAACTTCAAGCTTTAA
GAAATGACCTGTCTGAAAAAGCAACAAATGTAAAAAACTTAAGTGAACAGCTCCAGCAAGCCAA
AGAAGTCATCCACAAATTGAACCTAGAGAACAGAAATTTAAAAGAAGCTGTTAGGAAGTTAAAG
CATCAAACCGAGGTTGGAAATGTGCTCCTAAAAGAAGAAATGAAATCATATTATGAATTAGAAA
TGGCAAAGATCCGCGGAGAGCTCAGTGTCATCAAGAATGAACTGAGAACTGAGAAGACCCTACA
AGCAAGAAATAACAGAGCCTTGGAGTTGCTTAGAAAATACTATGCTTCTTCAATGGTAACATCA
TCAAGTATCCTTGACCACTTTACTGGGGATTTTTTTTAAAACTTAAAAAAATCCTTCCAGTAGG
CAAGTCATTGAGCCAAATCAGTGTTTATTGTATTTTCTTTGCGTATTACTTAAAATATATGTAA
TAGGATGTTATTTTCATTTTCAGTAAATCACAGTATCTATAAAACATATACATGTTTCCAAGCT
TCTGCTTTCTCTTTCTGATGAAGTTATTGCAGGAATACAAATGGAAACGAAGCTTTGGAAATCT
CATATCAGAGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTACACACACACATATATTCACTCAAA
AACACATAATGATTCACCAAATCATTTATGAATACAAATCAGCAATTTTGTGATCTCGTAAGCA
AATATGTCTTTGGCACGTGAATATTTTTCCATCTGTGTTCATTGATGTTAACAATAAAAATCTT
GTTTATGTGTATAAGCCTAA

hide sequence

RefSeq Acc Id:

NM_001393996 ⟹ NP_001380925

RefSeq Status:

VALIDATED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	134,237,182 - 134,246,207 (+)	NCBI
T2T-CHM13v2.0	X	132,562,356 - 132,571,388 (+)	NCBI

Sequence:

show sequence

AACCGCGCGGCCCGCGCTGGCGCTGCACTGCGGTGGCTCAGCCCGGAGCCGGCCCGGCGGGGTC
GCGGTGGCCAGAGCCGAACGGGGGGCTGCCGCGCGCGGGTGGTGGTTGTCTTTGAGGAAGAGAG
GTTCGGGCTCTCCAGACGGCATCCACGCTTCCAGTTCAAACTGGAGAAGGAGGGCAGAGATATC
CAGTAGACAGAAGATCTTGGACCCCAGGAAGTATATTGGAAGAGGTGCCTGGAGAAATGGATGC
TAGAAGAAAACACTGGAAGGAGAATATGTTTACTCCTTTTTTTAGTGCACAAGATGTTCTAGAA
GAGACTTCTGAGCCTGAATCTTCTTCTGAACAAACGACTGCAGATAGCAGCAAGGGAATGGAAG
AAATTTATAATTTGTCCAGTAGAAAGTTTCAGGAAGAAAGTAAATTTAAGAGGAAAAAATATAT
TTTCCAACTAAATGAAATAGAACAAGAACAAAATTTAAGAGAGAACAAGAGAAACATTTCAAAG
AATGAAACAGACACAAATTCTGCATCCTATGAATCATCTAATGTGGATGTTACAACAGAAGAAA
GCTTTAACAGCACAGAAGATAACTCTACCTGCAGTACAGATAACTTACCAGCTCTACTAAGACA
AGACATAAGAAAGAAATTTATGGAAAGAATGTCTCCAAAACTTTGCCTGAATCTTTTGAATGAA
GAACTGGAAGAACTTAATATGAAATACAGAAAAATAGAAGAGGAATTTGAAAATGCTGAAAAAG
AACTTTTGCACTACAAAAAAGAAATATTCACAAAACCCCTAAATTTTCAAGAAACAGAGACGGA
TGCTTCAAAAAGTGACTATGAACTTCAAGCTTTAAGAAATGACCTGTCTGAAAAAGCAACAAAT
GTAAAAAACTTAAGTGAACAGCTCCAGCAAGCCAAAGAAGTCATCCACAAATTGAACCTAGAGA
ACAGAAATTTAAAAGAAGCTGTTAGGAAGTTAAAGCATCAAACCGAGGTTGGAAATGTGCTCCT
AAAAGAAGAAATGAAATCATATTATGAATTAGAAATGGCAAAGATCCGCGGAGAGCTCAGTGTC
ATCAAGAATGAACTGAGAACTGAGAAGACCCTACAAGCAAGAAATAACAGAGCCTTGGAGTTGC
TTAGAAAATACTATGCTTCTTCAATGGTAACATCATCAAGTATCCTTGACCACTTTACTGGGGA
TTTTTTTTAAAACTTAAAAAAATCCTTCCAGTAGGCAAGTCATTGAGCCAAATCAGTGTTTATT
GTATTTTCTTTGCGTATTACTTAAAATATATGTAATAGGATGTTATTTTCATTTTCAGTAAATC
ACAGTATCTATAAAACATATACATGTTTCCAAGCTTCTGCTTTCTCTTTCTGATGAAGTTATTG
CAGGAATACAAATGGAAACGAAGCTTTGGAAATCTCATATCAGAGTGTGTGTGTGTGTGTGTGT
GTGTGTGTGTACACACACACATATATTCACTCAAAAACACATAATGATTCACCAAATCATTTAT
GAATACAAATCAGCAATTTTGTGATCTCGTAAGCAAATATGTCTTTGGCACGTGAATATTTTTC
CATCTGTGTTCATTGATGTTAACAATAAAAATCTTGTTTATGTGTATAAGCCTAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001094827	(Get FASTA)	NCBI Sequence Viewer
	NP_001340382	(Get FASTA)	NCBI Sequence Viewer
	NP_001380925	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	A6NGH7	(Get FASTA)	NCBI Sequence Viewer
	CCO13702	(Get FASTA)	NCBI Sequence Viewer
	EAX11768	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359845
	ENSP00000359845.4
	ENSP00000427951
	ENSP00000427951.1
	ENSP00000511932
	ENSP00000511932.1

RefSeq Acc Id:

NP_001094827 ⟸ NM_001101357

- UniProtKB:

A6NGH7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDARRKHWKENMFTPFFSAQDVLEETSEPESSSEQTTADSSKGMEEIYNLSSRKFQEESKFKRK
KYIFQLNEIEQEQNLRENKRNISKNETDTNSASYESSNVDVTTEESFNSTEDNSTCSTDNLPAL
LRQDIRKKFMERMSPKLCLNLLNEELEELNMKYRKIEEEFENAEKELLHYKKEIFTKPLNFQET
ETDASKSDYELQALRNDLSEKATNVKNLSEQLQQAKEVIHKLNLENRNLKEAVRKLKHQTEVGN
VLLKEEMKSYYELEMAKIRGELSVIKNELRTEKTLQARNNRALELLRKYYASSMVTSSSILDHF
TGDFF

hide sequence

RefSeq Acc Id:

NP_001340382 ⟸ NM_001353453

- UniProtKB:

A6NGH7 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MDARRKHWKENMFTPFFSAQDVLEETSEPESSSEQTTADSSKGMEEIYNLSSRKFQEESKFKRK
KYIFQLNEIEQEQNLRENKRNISKNETDTNSASYESSNVDVTTEESFNSTEDNSTCSTDNLPAL
LRQDIRKKFMERMSPKLCLNLLNEELEELNMKYRKIEEEFENAEKELLHYKKEIFTKPLNFQET
ETDASKSDYELQALRNDLSEKATNVKNLSEQLQQAKEVIHKLNLENRNLKEAVRKLKHQTEVGN
VLLKEEMKSYYELEMAKIRGELSVIKNELRTEKTLQARNNRALELLRKYYASSMVTSSSILDHF
TGDFF

hide sequence

RefSeq Acc Id:

ENSP00000359845 ⟸ ENST00000370809

RefSeq Acc Id:

ENSP00000427951 ⟸ ENST00000517294

RefSeq Acc Id:	NP_001380925 ⟸ NM_001393996
- UniProtKB:	A6NGH7 (UniProtKB/Swiss-Prot)

RefSeq Acc Id:

ENSP00000511932 ⟸ ENST00000695460

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-A6NGH7-F1-model_v2	AlphaFold	A6NGH7	1-325	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:37286	AgrOrtholog
COSMIC	CCDC160	COSMIC
Ensembl Genes	ENSG00000203952	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000370809	ENTREZGENE
	ENST00000370809.5	UniProtKB/Swiss-Prot
	ENST00000517294	ENTREZGENE
	ENST00000517294.5	UniProtKB/Swiss-Prot
	ENST00000695460	ENTREZGENE
	ENST00000695460.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000203952	GTEx
HGNC ID	HGNC:37286	ENTREZGENE
Human Proteome Map	CCDC160	Human Proteome Map
KEGG Report	hsa:347475	UniProtKB/Swiss-Prot
NCBI Gene	347475	ENTREZGENE
PANTHER	COILED-COIL DOMAIN-CONTAINING PROTEIN 160	UniProtKB/Swiss-Prot
	COILED-COIL DOMAIN-CONTAINING PROTEIN 160	UniProtKB/Swiss-Prot
PharmGKB	PA165756450	PharmGKB
UniProt	A6NGH7	ENTREZGENE, UniProtKB/Swiss-Prot
	L0R6E5_HUMAN	UniProtKB/TrEMBL

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

Imported Human Phenotype Annotations - ClinVar