CPXCR1 (CPX chromosome region candidate 1)

Gene: CPXCR1 (CPX chromosome region candidate 1) Homo sapiens

Analyze

Symbol:

CPXCR1

Name:

CPX chromosome region candidate 1

RGD ID:

1345373

HGNC Page

HGNC:2332

Description:

This gene is one of several genes identified in a region of the X chromosome associated with an X-linked cleft palate (CPX) disorder. The encoded protein contains a motif similar to a motif found in zinc-finger proteins. Mutation analysis of this gene has not revealed any mutation which causes the CPX disorder. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Sep 2011]

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cancer/testis antigen 77; CPX chromosomal region candidate gene 1 protein; CPX chromosome region, candidate 1; CT77

RGD Orthologs

Alliance Genes

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	88,747,225 - 88,754,781 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	88,747,225 - 88,754,785 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	88,002,226 - 88,009,782 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	87,888,882 - 87,896,442 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	87,808,400 - 87,815,924	NCBI
Celera	X	88,237,233 - 88,244,795 (+)	NCBI		Celera
Cytogenetic Map	X	q21.31	NCBI
HuRef	X	81,584,524 - 81,592,013 (+)	NCBI		HuRef
CHM1_1	X	87,894,934 - 87,902,486 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	87,173,865 - 87,181,413 (+)	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)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

aflatoxin B1 (EXP)

benzo[a]pyrene (EXP)

cadmium atom (EXP)

cadmium dichloride (EXP)

ethyl methanesulfonate (EXP)

formaldehyde (EXP)

levonorgestrel (EXP)

methyl methanesulfonate (EXP)

testosterone undecanoate (EXP)

valproic acid (EXP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Autism (IAGP)

References

References - curated

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:11499681	PMID:12477932	PMID:22808956	PMID:28428959	PMID:33961781	PMID:36724073

Genomics

Comparative Map Data

CPXCR1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	88,747,225 - 88,754,781 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	88,747,225 - 88,754,785 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	88,002,226 - 88,009,782 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	87,888,882 - 87,896,442 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	87,808,400 - 87,815,924	NCBI
Celera	X	88,237,233 - 88,244,795 (+)	NCBI		Celera
Cytogenetic Map	X	q21.31	NCBI
HuRef	X	81,584,524 - 81,592,013 (+)	NCBI		HuRef
CHM1_1	X	87,894,934 - 87,902,486 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	87,173,865 - 87,181,413 (+)	NCBI		T2T-CHM13v2.0

Cpxcr1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	115,358,641 - 115,388,480 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	115,358,641 - 115,388,480 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	116,448,944 - 116,478,783 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	116,448,944 - 116,478,783 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	113,562,553 - 113,592,392 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	112,565,888 - 112,595,727 (+)	NCBI		MGSCv36	mm8
Celera	X	103,190,094 - 103,216,220 (+)	NCBI		Celera
Cytogenetic Map	X	E1	NCBI
cM Map	X	49.48	NCBI

Cpxcr1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	85,961,382 - 85,999,133 (+)	NCBI		GRCr8
mRatBN7.2	X	81,756,909 - 81,794,661 (+)	NCBI	mRatBN7.2	mRatBN7.2
Rnor_6.0	X	49,243,273 - 49,244,985 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	49,439,477 - 49,440,823 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	105,400,416 - 105,401,304 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	83,024,554 - 83,026,266 (+)	NCBI		Celera
Cytogenetic Map	X	q31	NCBI

CPXCR1
(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	88,186,114 - 88,194,265 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	88,189,724 - 88,197,875 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	77,782,925 - 77,790,478 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	87,873,523 - 87,881,071 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	87,879,705 - 87,880,610 (+)	Ensembl	panpan1.1		panPan2

Cpxcr1
(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	74,823,750 - 74,830,931 (-)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936499	12,832,833 - 12,833,807 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

CPXCR1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	X	71,778,455 - 71,779,240 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

CPXCR1
(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	77,383,299 - 77,390,491 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666067	3,355,466 - 3,356,885 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Variants

Variants in CPXCR1
16 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1	copy number loss	See cases [RCV000050772]	ChrX:79372269..91308122 [GRCh38] ChrX:78627766..90563121 [GRCh37] ChrX:78514422..90449777 [NCBI36] ChrX:Xq21.1-21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 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 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 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 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 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(chrX:88378629-89096387)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052439]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052439]\|See cases [RCV000052439]	ChrX:88378629..89096387 [GRCh38] ChrX:87633630..88351388 [GRCh37] ChrX:87520286..88238044 [NCBI36] ChrX:Xq21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033048.5(CPXCR1):c.483C>T (p.Phe161=)	single nucleotide variant	Malignant melanoma [RCV000073267]	ChrX:88753897 [GRCh38] ChrX:88008898 [GRCh37] ChrX:87895554 [NCBI36] ChrX:Xq21.31	not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31(chrX:88622231-88893669)x0	copy number loss	See cases [RCV000134743]	ChrX:88622231..88893669 [GRCh38] ChrX:87877232..88148670 [GRCh37] ChrX:87763888..88035326 [NCBI36] ChrX:Xq21.31	uncertain significance
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 Xp11.22-q21.31(chrX:53985575-92203108)x1	copy number loss	See cases [RCV000135306]	ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31	pathogenic
GRCh38/hg38 Xq21.31(chrX:88567637-89230989)x2	copy number gain	See cases [RCV000135395]	ChrX:88567637..89230989 [GRCh38] ChrX:87822638..88485988 [GRCh37] ChrX:87709294..88372644 [NCBI36] ChrX:Xq21.31	uncertain significance
GRCh38/hg38 Xq21.31(chrX:88622228-88893649)x0	copy number loss	See cases [RCV000134907]	ChrX:88622228..88893649 [GRCh38] ChrX:87877229..88148650 [GRCh37] ChrX:87763885..88035306 [NCBI36] ChrX:Xq21.31	uncertain significance\|conflicting data from submitters
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 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 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:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
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 Xq21.31(chrX:88496462-88829953)x1	copy number loss	See cases [RCV000138237]	ChrX:88496462..88829953 [GRCh38] ChrX:87751463..88084954 [GRCh37] ChrX:87638119..87971610 [NCBI36] ChrX:Xq21.31	uncertain significance
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xq21.31(chrX:88596063-88882623)x1	copy number loss	See cases [RCV000138908]	ChrX:88596063..88882623 [GRCh38] ChrX:87851064..88137624 [GRCh37] ChrX:87737720..88024280 [NCBI36] ChrX:Xq21.31	conflicting data from submitters
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 Xq21.1-21.31(chrX:80722314-92152619)x0	copy number loss	See cases [RCV000139635]	ChrX:80722314..92152619 [GRCh38] ChrX:79977813..91407618 [GRCh37] ChrX:79864469..91294274 [NCBI36] ChrX:Xq21.1-21.31	pathogenic
GRCh38/hg38 Xq21.31-22.1(chrX:87807750-100286152)x3	copy number gain	See cases [RCV000141398]	ChrX:87807750..100286152 [GRCh38] ChrX:87062750..99541150 [GRCh37] ChrX:86949406..99427806 [NCBI36] ChrX:Xq21.31-22.1	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 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 Xq21.31(chrX:88735551-89004034)x1	copy number loss	See cases [RCV000142274]	ChrX:88735551..89004034 [GRCh38] ChrX:87990552..88259035 [GRCh37] ChrX:87877208..88145691 [NCBI36] ChrX:Xq21.31	uncertain significance
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 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-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31(chrX:87272593-89485330)x0	copy number loss	See cases [RCV000143345]	ChrX:87272593..89485330 [GRCh38] ChrX:86527596..88740329 [GRCh37] ChrX:86414252..88626985 [NCBI36] ChrX:Xq21.31	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-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 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: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 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 Xp22.33-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
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 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-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: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 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	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:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31(chrX:88002288-88348495)x0	copy number loss	See cases [RCV000445759]	ChrX:88002288..88348495 [GRCh37] ChrX:Xq21.31	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)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:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-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 Xq21.31(chrX:87838375-88164567)x0	copy number loss	See cases [RCV000510268]	ChrX:87838375..88164567 [GRCh37] ChrX:Xq21.31	uncertain significance
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 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 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 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	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 Xq21.1-28(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:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq21.31(chrX:87837389-88164567)x1	copy number loss	See cases [RCV000511025]	ChrX:87837389..88164567 [GRCh37] ChrX:Xq21.31	uncertain significance
GRCh37/hg19 Xq21.31(chrX:87838375-88164567)x1	copy number loss	See cases [RCV000511106]	ChrX:87838375..88164567 [GRCh37] ChrX:Xq21.31	uncertain significance
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 Xq21.31(chrX:88009699-88684010)x2	copy number gain	See cases [RCV000510771]	ChrX:88009699..88684010 [GRCh37] ChrX:Xq21.31	uncertain significance
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
NM_033048.6(CPXCR1):c.508A>C (p.Thr170Pro)	single nucleotide variant	Inborn genetic diseases [RCV003266188]	ChrX:88753922 [GRCh38] ChrX:88008923 [GRCh37] ChrX:Xq21.31	uncertain significance
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 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:86794810-96275443)x1	copy number loss	not provided [RCV000684355]	ChrX:86794810..96275443 [GRCh37] ChrX:Xq21.31-21.33	pathogenic
GRCh37/hg19 Xq21.31(chrX:87837390-88157081)x1	copy number loss	not provided [RCV000753644]	ChrX:87837390..88157081 [GRCh37] ChrX:Xq21.31	benign
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: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)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [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:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)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
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 Xq21.1-28(chrX:84387417-155233731)x1	copy number loss	not provided [RCV001007322]	ChrX:84387417..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033048.6(CPXCR1):c.755G>C (p.Gly252Ala)	single nucleotide variant	not provided [RCV000954795]	ChrX:88754169 [GRCh38] ChrX:88009170 [GRCh37] ChrX:Xq21.31	benign
NM_033048.6(CPXCR1):c.305C>A (p.Ser102Tyr)	single nucleotide variant	not provided [RCV000887365]	ChrX:88753719 [GRCh38] ChrX:88008720 [GRCh37] ChrX:Xq21.31	benign
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 Xq13.3-21.31(chrX:74667077-90312981)x1	copy number loss	not provided [RCV000847338]	ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	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 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_033048.6(CPXCR1):c.370T>A (p.Phe124Ile)	single nucleotide variant	not provided [RCV000887366]	ChrX:88753784 [GRCh38] ChrX:88008785 [GRCh37] ChrX:Xq21.31	likely benign
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 Xq21.31(chrX:87838375-88164567)x0	copy number loss	not provided [RCV001259010]	ChrX:87838375..88164567 [GRCh37] ChrX:Xq21.31	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 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 loss	Turner syndrome [RCV002280668]	ChrX:1..155270560 [GRCh37] ChrX:Xp22.33-q28	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 Xq13.2-21.31(chrX:72095006-88455505)	copy number gain	not specified [RCV002053147]	ChrX:72095006..88455505 [GRCh37] ChrX:Xq13.2-21.31	uncertain significance
GRCh37/hg19 Xq21.31(chrX:87837389-88164567)x1	copy number loss	not provided [RCV001836574]	ChrX:87837389..88164567 [GRCh37] ChrX:Xq21.31	likely benign
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 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 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [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 Xq21.1-24(chrX:76794355-119282836)x3	copy number gain	not provided [RCV002291535]	ChrX:76794355..119282836 [GRCh37] ChrX:Xq21.1-24	pathogenic
GRCh37/hg19 Xq21.31-21.33(chrX:87082472-95826084)x3	copy number gain	not provided [RCV002473518]	ChrX:87082472..95826084 [GRCh37] ChrX:Xq21.31-21.33	uncertain significance
NM_033048.6(CPXCR1):c.466C>G (p.Leu156Val)	single nucleotide variant	Inborn genetic diseases [RCV002869967]	ChrX:88753880 [GRCh38] ChrX:88008881 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.97T>C (p.Ser33Pro)	single nucleotide variant	Inborn genetic diseases [RCV002783081]	ChrX:88753511 [GRCh38] ChrX:88008512 [GRCh37] ChrX:Xq21.31	likely benign
NM_033048.6(CPXCR1):c.96G>T (p.Glu32Asp)	single nucleotide variant	Inborn genetic diseases [RCV002783080]	ChrX:88753510 [GRCh38] ChrX:88008511 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.788T>C (p.Met263Thr)	single nucleotide variant	Inborn genetic diseases [RCV002951352]	ChrX:88754202 [GRCh38] ChrX:88009203 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.751A>G (p.Lys251Glu)	single nucleotide variant	Inborn genetic diseases [RCV002879419]	ChrX:88754165 [GRCh38] ChrX:88009166 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.524G>A (p.Arg175Gln)	single nucleotide variant	Inborn genetic diseases [RCV002679952]	ChrX:88753938 [GRCh38] ChrX:88008939 [GRCh37] ChrX:Xq21.31	likely benign
NM_033048.6(CPXCR1):c.401T>A (p.Leu134His)	single nucleotide variant	Inborn genetic diseases [RCV003204795]	ChrX:88753815 [GRCh38] ChrX:88008816 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.529T>C (p.Tyr177His)	single nucleotide variant	Inborn genetic diseases [RCV003179503]	ChrX:88753943 [GRCh38] ChrX:88008944 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.832T>C (p.Cys278Arg)	single nucleotide variant	Inborn genetic diseases [RCV003201171]	ChrX:88754246 [GRCh38] ChrX:88009247 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.677A>G (p.Lys226Arg)	single nucleotide variant	Inborn genetic diseases [RCV003338277]	ChrX:88754091 [GRCh38] ChrX:88009092 [GRCh37] ChrX:Xq21.31	uncertain significance
GRCh37/hg19 Xq21.31(chrX:87838376-88098049)x2	copy number gain	not provided [RCV003483965]	ChrX:87838376..88098049 [GRCh37] ChrX:Xq21.31	uncertain significance
GRCh37/hg19 Xq21.31(chrX:87847607-88259035)x2	copy number gain	not provided [RCV003483967]	ChrX:87847607..88259035 [GRCh37] ChrX:Xq21.31	uncertain significance
NM_033048.6(CPXCR1):c.242G>A (p.Arg81Gln)	single nucleotide variant	not provided [RCV003430605]	ChrX:88753656 [GRCh38] ChrX:88008657 [GRCh37] ChrX:Xq21.31	likely benign
GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	copy number gain	not provided [RCV003485304]	ChrX:77212972..118576590 [GRCh37] ChrX:Xq21.1-24	pathogenic
GRCh37/hg19 Xq13.2-21.31(chrX:73620711-90395211)x1	copy number loss	not provided [RCV003483923]	ChrX:73620711..90395211 [GRCh37] ChrX:Xq13.2-21.31	pathogenic
GRCh37/hg19 Xq13.1-22.1(chrX:68040342-100863081)	copy number gain	not specified [RCV003986197]	ChrX:68040342..100863081 [GRCh37] ChrX:Xq13.1-22.1	pathogenic
GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	346
Count of miRNA genes:	199
Interacting mature miRNAs:	202
Transcripts:	ENST00000276127, ENST00000373111
Prediction methods:	Miranda, Pita, Rnahybrid
Result types:	miRGate_prediction

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

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

Markers in Region

DXS7669

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	88,009,866 - 88,010,031	UniSTS	GRCh37
Build 36	X	87,896,522 - 87,896,687	RGD	NCBI36
Celera	X	88,244,875 - 88,245,040	RGD
Cytogenetic Map	X	q21.3	UniSTS
HuRef	X	81,592,093 - 81,592,258	UniSTS

CPXCR1_9763

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	88,008,956 - 88,009,843	UniSTS	GRCh37
Build 36	X	87,895,612 - 87,896,499	RGD	NCBI36
Celera	X	88,243,965 - 88,244,852	RGD
HuRef	X	81,591,187 - 81,592,070	UniSTS

Expression

RNA-SEQ Expression

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

	alimentary part of gastrointestinal system	circulatory system	endocrine system	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system	adipose tissue	appendage
High
Medium	1										146
Low	4		3		10		5	3	17		237	12			2
Below cutoff	95	50	89	30	92	25	155	55	277	21	82	171	8	41	73

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_021312	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001184771	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_033048	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF284767	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK098646	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL031116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC027614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU570042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000276127 ⟹ ENSP00000276127

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	88,747,225 - 88,754,781 (+)	Ensembl

RefSeq Acc Id:

ENST00000373111 ⟹ ENSP00000362203

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	88,747,235 - 88,754,780 (+)	Ensembl

RefSeq Acc Id:

ENST00000614120 ⟹ ENSP00000484986

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	88,749,318 - 88,754,785 (+)	Ensembl

RefSeq Acc Id:

NM_001184771 ⟹ NP_001171700

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	88,747,225 - 88,754,781 (+)	NCBI
GRCh37	X	88,002,226 - 88,009,786 (+)	RGD
Celera	X	88,237,233 - 88,244,795 (+)	RGD
HuRef	X	81,584,524 - 81,592,013 (+)	RGD
CHM1_1	X	87,894,934 - 87,902,486 (+)	NCBI
T2T-CHM13v2.0	X	87,173,865 - 87,181,413 (+)	NCBI

Sequence:

show sequence

AGGAGTAAGTGGAGAGGTAGAGGGCAGAAGAAAAGGGGTCAAGAAGGCAGGACCCCGTGAAGCA
CACCTTTCCTAAGGATTTTGACGAATGAGAATGAAGATAAACTGGTGCATCTGACAAGCCTTAG
ATGACCTCCAGCAACTTCAGTTCTCACCGAATTACTGCATTTCAGCCTTACTGAGAAGCAGCCA
GTCATACTATCCTCAAATTTTAACCCAGGATGAGTTATCCTACTAAAGAAGGAAGTGATACAGC
TGGAAATGCTCACAAAAATTCTGAAAATGAGCCTCCTAATGACTGTAGTACAGACATAGAGTCT
CCATCTGCTGATCCCAATATGATCTATCAGGTAGAAACCAACCCAATAAACAGGGAGCCAGGCA
CAGCAACCTCCCAGGAAGATGTTGTTCCTCAAGCAGCAGAAAACAGCGAGCTCGAAACAGAGAT
CCAAAAAGATCAACGAGAAGAAGATCTAAAAGAAGAGCTTCTTCTACTTCAGACCCCCATTCCC
AGAAAATTGGTCTCTCACAAGCCCTTAAATGATAGATCAAGATCCCACTCAGGGAAAGTTGAGA
TGAAAGCAAACAATTTCCCCATAAATCACAAAACTCGTTTTCGACTTTCAACTTCATGGAGAGT
CCCATTTATTAACAGTCATGAGATAAGAAGTATGATTCTCCATCTGCTATGTGATAGATATTTC
TCTCAGGCTGCAGGGTGTCAGAATACCATGTGGGTAAAGCGAAAATATATAGCATGTCTTTACC
ATCCAAATAGTTTCACCCATCACGAGAGAGCCATAACATTTAGAAGGCCTTCGAGGGTGCACTA
CTACCGTCCCCTCACTGAGAGAATGACATCAGGAAAATTTTGCAAATCAACTGACACTAAAGGG
AAATGTAGATTCCGTGCTATTGTGAGGTCTGTGCTCTTTGTGTCACAGATACAAATTGAAAGTA
TTTTTAATATAAAAGGTTTTGTGGATATATTGACATATATCCATACCATGAATGTTATGATCAC
AAACACCAATAATGGTTGGAAATACTTTTGTCCCATCTGTGGAAGGCTTTTTAACACTTACTCT
GAATTAAGACAACATTCATGCAGCTCTTCTGGGAATTAAATTAAATTGGGGTAAATTCATTTTA
AAATATAACTTCTAAAATTCATAATTTGACTACTAAAGTAAGACAAAATTGCATGAACATAAAT
TTTAGTATTATTAGAGGGAGTAGCAGAAAGGAACACAAACTAATAGTACCTCTCAGTAAGAAAT
ACCTATGGGGAGTGAGGAAACATCTGTTTATACTTTGCTTTTACAAGTACATCATTGAAATATC
AGACCTGTCATCTATATTGAGTCAGCATTTGAACCAAGTAAATGTTTTCACTGTCTTAACATCT
ATTTCTGTAGATGTAAATATTGTTAACATAAAAGAATCCAAGTTAACAGGATCCTGACTAAGAT
AGCAAACATATATTGGAAGGCCAGACAAAGTTCTACCAAGTGTTTCCAGAGATTCTGCTACATG
TATTATCTGAAATGTTCTCCATATATTCAATAAAAACCAATTTGAAGACATA

hide sequence

RefSeq Acc Id:

NM_033048 ⟹ NP_149037

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	88,747,225 - 88,754,781 (+)	NCBI
GRCh37	X	88,002,226 - 88,009,786 (+)	RGD
Build 36	X	87,888,882 - 87,896,442 (+)	NCBI Archive
Celera	X	88,237,233 - 88,244,795 (+)	RGD
HuRef	X	81,584,524 - 81,592,013 (+)	RGD
CHM1_1	X	87,894,934 - 87,902,486 (+)	NCBI
T2T-CHM13v2.0	X	87,173,865 - 87,181,413 (+)	NCBI

Sequence:

show sequence

AGGAGTAAGTGGAGAGGTAGAGGGCAGAAGAAAAGGGGTCAAGAAGGCAGGACCCCGTGAAGCA
CACCTTTCCTAAGGATTTTGACGAATGAGAATGAAGATAAACTGTGAGTTGAAAGTGAAAGAGA
AAGCATAAGGGATCTTAGGTGCATCTGACAAGCCTTAGATGACCTCCAGCAACTTCAGTTCTCA
CCGAATTACTGCATTTCAGCCTTACTGAGAAGCAGCCAGTCATACTATCCTCAAATTTTAACCC
AGGATGAGTTATCCTACTAAAGAAGGAAGTGATACAGCTGGAAATGCTCACAAAAATTCTGAAA
ATGAGCCTCCTAATGACTGTAGTACAGACATAGAGTCTCCATCTGCTGATCCCAATATGATCTA
TCAGGTAGAAACCAACCCAATAAACAGGGAGCCAGGCACAGCAACCTCCCAGGAAGATGTTGTT
CCTCAAGCAGCAGAAAACAGCGAGCTCGAAACAGAGATCCAAAAAGATCAACGAGAAGAAGATC
TAAAAGAAGAGCTTCTTCTACTTCAGACCCCCATTCCCAGAAAATTGGTCTCTCACAAGCCCTT
AAATGATAGATCAAGATCCCACTCAGGGAAAGTTGAGATGAAAGCAAACAATTTCCCCATAAAT
CACAAAACTCGTTTTCGACTTTCAACTTCATGGAGAGTCCCATTTATTAACAGTCATGAGATAA
GAAGTATGATTCTCCATCTGCTATGTGATAGATATTTCTCTCAGGCTGCAGGGTGTCAGAATAC
CATGTGGGTAAAGCGAAAATATATAGCATGTCTTTACCATCCAAATAGTTTCACCCATCACGAG
AGAGCCATAACATTTAGAAGGCCTTCGAGGGTGCACTACTACCGTCCCCTCACTGAGAGAATGA
CATCAGGAAAATTTTGCAAATCAACTGACACTAAAGGGAAATGTAGATTCCGTGCTATTGTGAG
GTCTGTGCTCTTTGTGTCACAGATACAAATTGAAAGTATTTTTAATATAAAAGGTTTTGTGGAT
ATATTGACATATATCCATACCATGAATGTTATGATCACAAACACCAATAATGGTTGGAAATACT
TTTGTCCCATCTGTGGAAGGCTTTTTAACACTTACTCTGAATTAAGACAACATTCATGCAGCTC
TTCTGGGAATTAAATTAAATTGGGGTAAATTCATTTTAAAATATAACTTCTAAAATTCATAATT
TGACTACTAAAGTAAGACAAAATTGCATGAACATAAATTTTAGTATTATTAGAGGGAGTAGCAG
AAAGGAACACAAACTAATAGTACCTCTCAGTAAGAAATACCTATGGGGAGTGAGGAAACATCTG
TTTATACTTTGCTTTTACAAGTACATCATTGAAATATCAGACCTGTCATCTATATTGAGTCAGC
ATTTGAACCAAGTAAATGTTTTCACTGTCTTAACATCTATTTCTGTAGATGTAAATATTGTTAA
CATAAAAGAATCCAAGTTAACAGGATCCTGACTAAGATAGCAAACATATATTGGAAGGCCAGAC
AAAGTTCTACCAAGTGTTTCCAGAGATTCTGCTACATGTATTATCTGAAATGTTCTCCATATAT
TCAATAAAAACCAATTTGAAGACATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001171700	(Get FASTA)	NCBI Sequence Viewer
	NP_149037	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH27614	(Get FASTA)	NCBI Sequence Viewer
	AAK69720	(Get FASTA)	NCBI Sequence Viewer
	BAC05363	(Get FASTA)	NCBI Sequence Viewer
	BAG36506	(Get FASTA)	NCBI Sequence Viewer
	EAW98549	(Get FASTA)	NCBI Sequence Viewer
	EAW98550	(Get FASTA)	NCBI Sequence Viewer
	EAW98551	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000276127
	ENSP00000276127.4
	ENSP00000362203
	ENSP00000362203.1
	ENSP00000484986.1
GenBank Protein	Q8N123	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_149037 ⟸ NM_033048

- UniProtKB:

Q8N123 (UniProtKB/Swiss-Prot), D3DTE7 (UniProtKB/Swiss-Prot), B2R9F9 (UniProtKB/Swiss-Prot), Q96RS3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSSPTKEGSDTAGNAHKNSENEPPNDCSTDIESPSADPNMIYQVETNPINREPGTATSQEDVVP
QAAENSELETEIQKDQREEDLKEELLLLQTPIPRKLVSHKPLNDRSRSHSGKVEMKANNFPINH
KTRFRLSTSWRVPFINSHEIRSMILHLLCDRYFSQAAGCQNTMWVKRKYIACLYHPNSFTHHER
AITFRRPSRVHYYRPLTERMTSGKFCKSTDTKGKCRFRAIVRSVLFVSQIQIESIFNIKGFVDI
LTYIHTMNVMITNTNNGWKYFCPICGRLFNTYSELRQHSCSSSGN

hide sequence

RefSeq Acc Id:

NP_001171700 ⟸ NM_001184771

- UniProtKB:

Q8N123 (UniProtKB/Swiss-Prot), D3DTE7 (UniProtKB/Swiss-Prot), B2R9F9 (UniProtKB/Swiss-Prot), Q96RS3 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSSPTKEGSDTAGNAHKNSENEPPNDCSTDIESPSADPNMIYQVETNPINREPGTATSQEDVVP
QAAENSELETEIQKDQREEDLKEELLLLQTPIPRKLVSHKPLNDRSRSHSGKVEMKANNFPINH
KTRFRLSTSWRVPFINSHEIRSMILHLLCDRYFSQAAGCQNTMWVKRKYIACLYHPNSFTHHER
AITFRRPSRVHYYRPLTERMTSGKFCKSTDTKGKCRFRAIVRSVLFVSQIQIESIFNIKGFVDI
LTYIHTMNVMITNTNNGWKYFCPICGRLFNTYSELRQHSCSSSGN

hide sequence

RefSeq Acc Id:

ENSP00000362203 ⟸ ENST00000373111

RefSeq Acc Id:

ENSP00000484986 ⟸ ENST00000614120

RefSeq Acc Id:

ENSP00000276127 ⟸ ENST00000276127

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8N123-F1-model_v2	AlphaFold	Q8N123	1-301	view protein structure

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:2332	AgrOrtholog
COSMIC	CPXCR1	COSMIC
Ensembl Genes	ENSG00000147183	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000276127	ENTREZGENE
	ENST00000276127.9	UniProtKB/Swiss-Prot
	ENST00000373111	ENTREZGENE
	ENST00000373111.5	UniProtKB/Swiss-Prot
	ENST00000614120.1	UniProtKB/Swiss-Prot
GTEx	ENSG00000147183	GTEx
HGNC ID	HGNC:2332	ENTREZGENE
Human Proteome Map	CPXCR1	Human Proteome Map
InterPro	Znf_C2H2_type	UniProtKB/Swiss-Prot
KEGG Report	hsa:53336	UniProtKB/Swiss-Prot
NCBI Gene	53336	ENTREZGENE
OMIM	301055	OMIM
PharmGKB	PA26852	PharmGKB
PROSITE	ZINC_FINGER_C2H2_2	UniProtKB/Swiss-Prot
UniProt	B2R9F9	ENTREZGENE
	CPXCR_HUMAN	UniProtKB/Swiss-Prot
	D3DTE7	ENTREZGENE
	Q8N123	ENTREZGENE
	Q96RS3	ENTREZGENE
UniProt Secondary	B2R9F9	UniProtKB/Swiss-Prot
	D3DTE7	UniProtKB/Swiss-Prot
	Q96RS3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	CPXCR1	CPX chromosome region candidate 1		CPX chromosome region, candidate 1	Symbol and/or name change	5135510	APPROVED
2011-09-13	CPXCR1	CPX chromosome region, candidate 1	CPXCR1	CPX chromosome region, candidate 1	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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