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Gene: PASD1 (PAS domain containing repressor 1) Homo sapiens

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Symbol:

PASD1

Name:

PAS domain containing repressor 1

RGD ID:

1346433

HGNC Page

HGNC:20686

Description:

Enables DNA-binding transcription factor binding activity and transcription regulator inhibitor activity. Involved in negative regulation of DNA-templated transcription and negative regulation of circadian rhythm. Located in nuclear speck. Part of Cry-Per complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

cancer/testis antigen 63; circadian clock protein PASD1; CT63; CT64; OXTES1; PAS domain containing 1; PAS domain-containing protein 1

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	151,563,675 - 151,676,739 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	151,563,675 - 151,676,739 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	150,732,147 - 150,845,211 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	150,482,663 - 150,595,867 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	150,402,661 - 150,515,777	NCBI
Celera	X	150,980,699 - 151,093,569 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	139,588,945 - 139,702,086 (+)	NCBI		HuRef
CHM1_1	X	150,606,474 - 150,720,157 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	149,831,967 - 149,945,045 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	autistic disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311
PASD1	Human	autosomal hemophilia A		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: AUTOSOMAL HEMOPHILIA A	ClinVar	PMID:31690835
PASD1	Human	factor VIII deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Factor 8 deficiency and congenital	ClinVar	PMID:31690835
PASD1	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:25741868
PASD1	Human	syndromic X-linked intellectual disability Lubs type		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Syndromic X-linked intellectual disability Lubs type	ClinVar	PMID:22679399 more ...

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of PASD1 intron	CTD	PMID:30157460
PASD1	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of PASD1 intron	CTD	PMID:30157460
PASD1	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of PASD1 mRNA	CTD	PMID:17183730
PASD1	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of PASD1 intron	CTD	PMID:30157460
PASD1	Human	methoxychlor	affects methylation	ISO	Pasd1 (Rattus norvegicus)	6480464	Methoxychlor affects the methylation of PASD1 gene	CTD	PMID:35440735
PASD1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PASD1 mRNA	CTD	PMID:25879800
PASD1	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of PASD1 mRNA	CTD	PMID:17183730
PASD1	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of PASD1 gene	CTD	PMID:29154799

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	circadian regulation of gene expression	involved_in	IBA	FB:FBgn0023076 more ...	150520179		GO_Central	GO_REF:0000033
PASD1	Human	circadian regulation of gene expression	involved_in	IEA	InterPro:IPR047230	150520179		InterPro	GO_REF:0000002
PASD1	Human	negative regulation of circadian rhythm	involved_in	IDA		150520179	PMID:25936801	UniProt	PMID:25936801
PASD1	Human	negative regulation of circadian rhythm	involved_in	IBA	PANTHER:PTN005275165 and UniProtKB:Q8IV76	150520179		GO_Central	GO_REF:0000033
PASD1	Human	negative regulation of DNA-templated transcription	involved_in	IDA		150520179	PMID:25936801	UniProt	PMID:25936801
PASD1	Human	negative regulation of DNA-templated transcription	involved_in	IBA	PANTHER:PTN005275165 and UniProtKB:Q8IV76	150520179		GO_Central	GO_REF:0000033
PASD1	Human	regulation of gene expression	involved_in	IEA	ARBA:ARBA00028334	150520179		UniProt	GO_REF:0000117
PASD1	Human	regulation of transcription by RNA polymerase II	involved_in	IBA	FB:FBgn0023076 more ...	150520179		GO_Central	GO_REF:0000033
PASD1	Human	rhythmic process	involved_in	IEA	UniProtKB-KW:KW-0090	150520179		UniProt	GO_REF:0000043

Cellular Component

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	CLOCK-BMAL transcription complex	part_of	IBA	FB:FBgn0023076 more ...	150520179		GO_Central	GO_REF:0000033
PASD1	Human	Cry-Per complex	part_of	IDA		150520179	PMID:25936801	UniProt	PMID:25936801
PASD1	Human	nuclear speck	located_in	IDA		150520179		HPA	GO_REF:0000052
PASD1	Human	nucleus	located_in	IDA		150520179	PMID:25936801	LIFEdb	GO_REF:0000054 and PMID:25936801
PASD1	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
PASD1	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044

Molecular Function

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	DNA-binding transcription factor activity, RNA polymerase II-specific	NOT\|enables	IBA	PANTHER:PTN001126940 and PANTHER:PTN005275165	150520179		GO_Central	GO_REF:0000033
PASD1	Human	DNA-binding transcription factor binding	enables	IPI	UniProtKB:O00327	150520179	PMID:25936801	GO_Central	PMID:25936801
PASD1	Human	RNA polymerase II cis-regulatory region sequence-specific DNA binding	NOT\|enables	IBA	PANTHER:PTN001126940 and PANTHER:PTN005275165	150520179		GO_Central	GO_REF:0000033
PASD1	Human	transcription regulator inhibitor activity	enables	IDA		150520179	PMID:25936801	GO_Central	PMID:25936801

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PASD1	Human	Autism		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism	ClinVar	PMID:21681106 and PMID:30208311

#	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

PMID:11076863	PMID:11256614	PMID:12477932	PMID:14702039	PMID:15122589	PMID:15162151	PMID:15489336	PMID:16112646	PMID:16344560	PMID:16381901	PMID:17024112	PMID:17114574
PMID:18029348	PMID:19552722	PMID:19886887	PMID:20861911	PMID:21832049	PMID:21873635	PMID:25936801	PMID:26892021	PMID:29507755	PMID:30745168	PMID:31478431	PMID:31558691

PASD1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	151,563,675 - 151,676,739 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	151,563,675 - 151,676,739 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	150,732,147 - 150,845,211 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	150,482,663 - 150,595,867 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	150,402,661 - 150,515,777	NCBI
Celera	X	150,980,699 - 151,093,569 (+)	NCBI		Celera
Cytogenetic Map	X	q28	NCBI
HuRef	X	139,588,945 - 139,702,086 (+)	NCBI		HuRef
CHM1_1	X	150,606,474 - 150,720,157 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	X	149,831,967 - 149,945,045 (+)	NCBI		T2T-CHM13v2.0

Pasd1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	70,976,044 - 70,984,477 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	70,964,553 - 70,984,476 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	71,932,438 - 71,940,871 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	71,920,947 - 71,940,870 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	69,177,777 - 69,186,210 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	68,185,158 - 68,193,589 (+)	NCBI		MGSCv36	mm8
Celera	X	62,910,537 - 62,918,969 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI
cM Map	X	37.14	NCBI

Pasd1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	154,662,718 - 154,684,001 (+)	NCBI		GRCr8
mRatBN7.2	X	149,617,933 - 149,639,214 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	149,620,972 - 149,638,675 (+)	Ensembl		mRatBN7.2 Ensembl
Rnor_6.0	16	70,001,708 - 70,006,009 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0	16	70,011,911 - 70,027,313 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	16	70,002,883 - 70,006,016 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	16	70,011,886 - 70,021,237 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	16	69,682,024 - 69,691,307 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Rnor_5.0	16	69,671,801 - 69,676,081 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
Cytogenetic Map	X	q37	NCBI

Pasd1
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955498	7,127,978 - 7,194,359 (+)	NCBI	ChiLan1.0	ChiLan1.0

PASD1
(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	151,629,609 - 151,743,545 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	151,633,214 - 151,747,150 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	141,180,256 - 141,255,777 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	151,099,674 - 151,212,970 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	151,137,752 - 151,213,277 (+)	Ensembl	panpan1.1		panPan2

PASD1
(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	119,536,333 - 119,629,452 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	119,536,268 - 119,629,451 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	104,919,486 - 105,012,600 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	121,757,069 - 121,850,397 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	121,791,664 - 121,850,396 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	118,477,290 - 118,570,412 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	120,960,499 - 121,053,616 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	120,843,098 - 120,936,196 (+)	NCBI		UU_Cfam_GSD_1.0

Pasd1
(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	117,087,246 - 117,159,898 (+)	NCBI		HiC_Itri_2

PASD1
(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	126,154,328 - 126,221,997 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	126,157,638 - 126,221,988 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666065	63,919,715 - 63,984,424 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Pasd1
(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_004624883	2,976,237 - 2,980,477 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PASD1
73 total 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
NM_173493.2(PASD1):c.629+6096A>G	single nucleotide variant	Lung cancer [RCV000102438]	ChrX:151631626 [GRCh38] ChrX:150800098 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq28(chrX:150036146-156022206)x3	copy number gain	See cases [RCV000050946]	ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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 Xq28(chrX:149989929-156022206)x3	copy number gain	See cases [RCV000050657]	ChrX:149989929..156022206 [GRCh38] ChrX:149158160..155251871 [GRCh37] ChrX:148908818..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq23-28(chrX:115417992-156022206)x1	copy number loss	See cases [RCV000051160]	ChrX:115417992..156022206 [GRCh38] ChrX:114652461..155251871 [GRCh37] ChrX:114558717..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:145879711-156022206)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051747]\|See cases [RCV000051747]	ChrX:145879711..156022206 [GRCh38] ChrX:146715565..155251871 [GRCh37] ChrX:144768921..154905065 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 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 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 Xq26.3-28(chrX:136956500-156020993)x1	copy number loss	See cases [RCV000051732]	ChrX:136956500..156020993 [GRCh38] ChrX:136038659..155250658 [GRCh37] ChrX:135866325..154903852 [NCBI36] ChrX:Xq26.3-28	pathogenic
GRCh38/hg38 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 Xq27.1-28(chrX:140445228-155998166)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051746]\|See cases [RCV000051746]	ChrX:140445228..155998166 [GRCh38] ChrX:139527393..155227831 [GRCh37] ChrX:139355059..154881025 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq25-28(chrX:123731372-155687381)x3	copy number gain	See cases [RCV000052445]	ChrX:123731372..155687381 [GRCh38] ChrX:122865222..154917042 [GRCh37] ChrX:122692903..154570236 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140226495-155687381)x2	copy number gain	See cases [RCV000052471]	ChrX:140226495..155687381 [GRCh38] ChrX:139308651..154917042 [GRCh37] ChrX:139136317..154570236 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:140445228-154604471)x2	copy number gain	See cases [RCV000052474]	ChrX:140445228..154604471 [GRCh38] ChrX:139527393..153832724 [GRCh37] ChrX:139355059..153485918 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:141160282-155699618)x3	copy number gain	See cases [RCV000052475]	ChrX:141160282..155699618 [GRCh38] ChrX:140254480..154929279 [GRCh37] ChrX:140082146..154582473 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_173493.2(PASD1):c.384G>A (p.Val128=)	single nucleotide variant	Malignant melanoma [RCV000073109]	ChrX:151621558 [GRCh38] ChrX:150790030 [GRCh37] ChrX:150540686 [NCBI36] ChrX:Xq28	not provided
NM_173493.2(PASD1):c.2209C>T (p.Pro737Ser)	single nucleotide variant	Malignant melanoma [RCV000073110]	ChrX:151676030 [GRCh38] ChrX:150844502 [GRCh37] ChrX:150595158 [NCBI36] ChrX:Xq28	not provided
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.1-28(chrX:139333024-155978689)x1	copy number loss	See cases [RCV000133818]	ChrX:139333024..155978689 [GRCh38] ChrX:138415183..155208354 [GRCh37] ChrX:138242849..154861548 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xq27.3-28(chrX:144627217-155434735)x3	copy number gain	See cases [RCV000133725]	ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 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 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.33-28(chrX:94462929-156001635)x3	copy number gain	See cases [RCV000136552]	ChrX:94462929..156001635 [GRCh38] ChrX:93717928..155231300 [GRCh37] ChrX:93604584..154884494 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 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: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 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 Xq27.1-28(chrX:140783390-155611114)x2	copy number gain	See cases [RCV000135881]	ChrX:140783390..155611114 [GRCh38] ChrX:139865555..154785891 [GRCh37] ChrX:139693221..154493969 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xq27.2-28(chrX:141650284-156022206)x1	copy number loss	See cases [RCV000136912]	ChrX:141650284..156022206 [GRCh38] ChrX:140738414..155251871 [GRCh37] ChrX:140566080..154905065 [NCBI36] ChrX:Xq27.2-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 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 Xq28(chrX:151159662-152145800)x2	copy number gain	See cases [RCV000136754]	ChrX:151159662..152145800 [GRCh38] ChrX:150328134..151314272 [GRCh37] ChrX:150078792..151064928 [NCBI36] ChrX:Xq28	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 Xq26.3-28(chrX:137118983-156003242)x1	copy number loss	See cases [RCV000137257]	ChrX:137118983..156003242 [GRCh38] ChrX:136201142..155232907 [GRCh37] ChrX:136028808..154886101 [NCBI36] ChrX:Xq26.3-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq25-28(chrX:123793526-156022206)x1	copy number loss	See cases [RCV000137167]	ChrX:123793526..156022206 [GRCh38] ChrX:122927376..155251871 [GRCh37] ChrX:122755057..154905065 [NCBI36] ChrX:Xq25-28	pathogenic\|uncertain significance
GRCh38/hg38 Xq21.33-28(chrX:95846285-156003242)x3	copy number gain	See cases [RCV000138020]	ChrX:95846285..156003242 [GRCh38] ChrX:95101284..155232907 [GRCh37] ChrX:94987940..154886101 [NCBI36] ChrX:Xq21.33-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106127173-156003242)x1	copy number loss	See cases [RCV000137887]	ChrX:106127173..156003242 [GRCh38] ChrX:105371166..155232907 [GRCh37] ChrX:105257822..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:143553831-156003229)x1	copy number loss	See cases [RCV000138679]	ChrX:143553831..156003229 [GRCh38] ChrX:142641674..155232894 [GRCh37] ChrX:142469340..154886088 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 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 Xq27.1-28(chrX:139530928-156003229)x1	copy number loss	See cases [RCV000139724]	ChrX:139530928..156003229 [GRCh38] ChrX:138613087..155232894 [GRCh37] ChrX:138440753..154886088 [NCBI36] ChrX:Xq27.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:89557622-156004066)x1	copy number loss	See cases [RCV000142016]	ChrX:89557622..156004066 [GRCh38] ChrX:88812621..155233731 [GRCh37] ChrX:88699277..154886925 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:119297670-156004066)x1	copy number loss	See cases [RCV000141743]	ChrX:119297670..156004066 [GRCh38] ChrX:118431633..155233731 [GRCh37] ChrX:118315661..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xq24-28(chrX:118856574-156004066)x1	copy number loss	See cases [RCV000142137]	ChrX:118856574..156004066 [GRCh38] ChrX:117990537..155233731 [GRCh37] ChrX:117874565..154886925 [NCBI36] ChrX:Xq24-28	pathogenic
GRCh38/hg38 Xq21.2-28(chrX:86626431-156004066)x1	copy number loss	See cases [RCV000142037]	ChrX:86626431..156004066 [GRCh38] ChrX:85881434..155233731 [GRCh37] ChrX:85768090..154886925 [NCBI36] ChrX:Xq21.2-28	pathogenic
GRCh38/hg38 Xq22.3-28(chrX:106722296-156004066)x1	copy number loss	See cases [RCV000142190]	ChrX:106722296..156004066 [GRCh38] ChrX:105965526..155233731 [GRCh37] ChrX:105852182..154886925 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq28(chrX:148951460-155434653)x2	copy number gain	See cases [RCV000143002]	ChrX:148951460..155434653 [GRCh38] ChrX:148956425..154664314 [GRCh37] ChrX:147840690..154317508 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq23-28(chrX:111050385-156022206)x1	copy number loss	See cases [RCV000142577]	ChrX:111050385..156022206 [GRCh38] ChrX:110293613..155251871 [GRCh37] ChrX:110180269..154905065 [NCBI36] ChrX:Xq23-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)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: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:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	copy number gain	See cases [RCV000240530]	ChrX:142174780..155250222 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	copy number loss	See cases [RCV000240337]	ChrX:121022022..155211482 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139586015-154774957)	copy number gain	Syndromic X-linked intellectual disability Lubs type [RCV003214133]	ChrX:139586015..154774957 [GRCh37] ChrX:Xq27.1-28	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:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1	copy number loss	See cases [RCV000446761]	ChrX:150253008..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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: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 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	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 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:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	copy number gain	See cases [RCV000511034]	ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_173493.3(PASD1):c.1835C>T (p.Pro612Leu)	single nucleotide variant	not specified [RCV004308351]	ChrX:151672580 [GRCh38] ChrX:150841052 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.349G>A (p.Val117Ile)	single nucleotide variant	not specified [RCV004330440]	ChrX:151621523 [GRCh38] ChrX:150789995 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1802C>T (p.Pro601Leu)	single nucleotide variant	not specified [RCV004301328]	ChrX:151672547 [GRCh38] ChrX:150841019 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq27.1-28(chrX:138331745-155233731)x1	copy number loss	not provided [RCV000684397]	ChrX:138331745..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.1-28(chrX:139504488-155233731)x1	copy number loss	not provided [RCV000684401]	ChrX:139504488..155233731 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq27.2-28(chrX:140388077-155233731)x3	copy number gain	not provided [RCV000684402]	ChrX:140388077..155233731 [GRCh37] ChrX:Xq27.2-28	pathogenic
GRCh37/hg19 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 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	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 Xq27.1-28(chrX:138750575-155246749)x1	copy number loss	not provided [RCV000753810]	ChrX:138750575..155246749 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:150838779-150992266)x2	copy number gain	not provided [RCV000753909]	ChrX:150838779..150992266 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1	copy number loss	not provided [RCV000753815]	ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 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
GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	pathogenic
GRCh37/hg19 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 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely 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 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely 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:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	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 Xq11.1-28(chrX:62685885-155233731)	copy number loss	Turner syndrome [RCV002280672]	ChrX:62685885..155233731 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60000-155234966)x1	copy number loss	not provided [RCV001537933]	ChrX:60000..155234966 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV001839062]	ChrX:140888048..154656872 [GRCh38] ChrX:Xq27.1-28	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 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	not provided [RCV001829212]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [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 Xq27.3-28(chrX:142401540-155233731)x1	copy number loss	See cases [RCV002292203]	ChrX:142401540..155233731 [GRCh37] ChrX:Xq27.3-28	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
NM_173493.3(PASD1):c.1421G>A (p.Cys474Tyr)	single nucleotide variant	not specified [RCV004328166]	ChrX:151671763 [GRCh38] ChrX:150840235 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.304T>G (p.Ser102Ala)	single nucleotide variant	not specified [RCV004310252]	ChrX:151621026 [GRCh38] ChrX:150789498 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq25-28(chrX:124749464-155233731)x1	copy number loss	not provided [RCV002474567]	ChrX:124749464..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
NM_173493.3(PASD1):c.1224C>G (p.His408Gln)	single nucleotide variant	not specified [RCV004209860]	ChrX:151671190 [GRCh38] ChrX:150839662 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.279T>G (p.Ile93Met)	single nucleotide variant	not specified [RCV004216081]	ChrX:151621001 [GRCh38] ChrX:150789473 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1594C>A (p.Leu532Met)	single nucleotide variant	not specified [RCV004230299]	ChrX:151672339 [GRCh38] ChrX:150840811 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1494G>T (p.Glu498Asp)	single nucleotide variant	not specified [RCV004113391]	ChrX:151672239 [GRCh38] ChrX:150840711 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1330C>T (p.Arg444Trp)	single nucleotide variant	not specified [RCV004240911]	ChrX:151671672 [GRCh38] ChrX:150840144 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1034A>G (p.Asp345Gly)	single nucleotide variant	not specified [RCV004173483]	ChrX:151664311 [GRCh38] ChrX:150832783 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.238C>T (p.Leu80Phe)	single nucleotide variant	not specified [RCV004153984]	ChrX:151620960 [GRCh38] ChrX:150789432 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1249C>T (p.Arg417Cys)	single nucleotide variant	not specified [RCV004180367]	ChrX:151671591 [GRCh38] ChrX:150840063 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1524G>C (p.Lys508Asn)	single nucleotide variant	not specified [RCV004189057]	ChrX:151672269 [GRCh38] ChrX:150840741 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1732G>A (p.Val578Met)	single nucleotide variant	not specified [RCV004159520]	ChrX:151672477 [GRCh38] ChrX:150840949 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1630C>G (p.Gln544Glu)	single nucleotide variant	not specified [RCV004176822]	ChrX:151672375 [GRCh38] ChrX:150840847 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1060G>T (p.Ala354Ser)	single nucleotide variant	not specified [RCV004112399]	ChrX:151664337 [GRCh38] ChrX:150832809 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.740T>C (p.Val247Ala)	single nucleotide variant	not specified [RCV004192465]	ChrX:151659735 [GRCh38] ChrX:150828207 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.526C>T (p.Leu176Phe)	single nucleotide variant	not specified [RCV004138641]	ChrX:151623044 [GRCh38] ChrX:150791516 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.713C>T (p.Ser238Leu)	single nucleotide variant	not specified [RCV004192505]	ChrX:151648698 [GRCh38] ChrX:150817170 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1610G>A (p.Arg537Gln)	single nucleotide variant	not specified [RCV004165113]	ChrX:151672355 [GRCh38] ChrX:150840827 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1859A>G (p.Gln620Arg)	single nucleotide variant	not specified [RCV004241931]	ChrX:151672604 [GRCh38] ChrX:150841076 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1768C>T (p.Pro590Ser)	single nucleotide variant	not specified [RCV004187727]	ChrX:151672513 [GRCh38] ChrX:150840985 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1523A>G (p.Lys508Arg)	single nucleotide variant	not specified [RCV004260199]	ChrX:151672268 [GRCh38] ChrX:150840740 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.959T>G (p.Met320Arg)	single nucleotide variant	not specified [RCV004279734]	ChrX:151664236 [GRCh38] ChrX:150832708 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1490G>C (p.Arg497Pro)	single nucleotide variant	not specified [RCV004253492]	ChrX:151672235 [GRCh38] ChrX:150840707 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.2315C>T (p.Pro772Leu)	single nucleotide variant	not specified [RCV004276300]	ChrX:151676136 [GRCh38] ChrX:150844608 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.14G>A (p.Gly5Glu)	single nucleotide variant	not specified [RCV004281143]	ChrX:151601567 [GRCh38] ChrX:150770039 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.19A>G (p.Lys7Glu)	single nucleotide variant	not specified [RCV004254120]	ChrX:151601572 [GRCh38] ChrX:150770044 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.2210C>T (p.Pro737Leu)	single nucleotide variant	not specified [RCV004354177]	ChrX:151676031 [GRCh38] ChrX:150844503 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	copy number loss	not provided [RCV003483930]	ChrX:119071609..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq28(chrX:150542033-151131340)x2	copy number gain	not provided [RCV003483981]	ChrX:150542033..151131340 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	copy number loss	not provided [RCV003483936]	ChrX:148598351..154943978 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	copy number loss	not provided [RCV003483929]	ChrX:118576752..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
NM_173493.3(PASD1):c.958A>G (p.Met320Val)	single nucleotide variant	not provided [RCV003432525]	ChrX:151664235 [GRCh38] ChrX:150832707 [GRCh37] ChrX:Xq28	benign
NM_173493.3(PASD1):c.1731C>T (p.Ile577=)	single nucleotide variant	not provided [RCV003432526]	ChrX:151672476 [GRCh38] ChrX:150840948 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.2047C>T (p.Leu683=)	single nucleotide variant	not provided [RCV003432527]	ChrX:151674058 [GRCh38] ChrX:150842530 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	copy number loss	not specified [RCV003986220]	ChrX:119395676..154930047 [GRCh37] ChrX:Xq24-28	pathogenic
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 Xq25-28(chrX:125253445-155233098)x1	copy number loss	See cases [RCV004442781]	ChrX:125253445..155233098 [GRCh37] ChrX:Xq25-28	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 Xq12-28(chrX:67292994-155240074)x3	copy number gain	not provided [RCV003885530]	ChrX:67292994..155240074 [GRCh37] ChrX:Xq12-28	pathogenic
NM_173493.3(PASD1):c.900C>A (p.Asp300Glu)	single nucleotide variant	not specified [RCV004502788]	ChrX:151664177 [GRCh38] ChrX:150832649 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1824A>C (p.Gln608His)	single nucleotide variant	not specified [RCV004502781]	ChrX:151672569 [GRCh38] ChrX:150841041 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1496A>C (p.Gln499Pro)	single nucleotide variant	not specified [RCV004502778]	ChrX:151672241 [GRCh38] ChrX:150840713 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1156G>A (p.Glu386Lys)	single nucleotide variant	not specified [RCV004502775]	ChrX:151671122 [GRCh38] ChrX:150839594 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.424C>T (p.Pro142Ser)	single nucleotide variant	not specified [RCV004502784]	ChrX:151622942 [GRCh38] ChrX:150791414 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.480T>G (p.Cys160Trp)	single nucleotide variant	not specified [RCV004502785]	ChrX:151622998 [GRCh38] ChrX:150791470 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1712C>A (p.Pro571Gln)	single nucleotide variant	not specified [RCV004502780]	ChrX:151672457 [GRCh38] ChrX:150840929 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1801C>G (p.Pro601Ala)	single nucleotide variant	EBV-positive nodal T- and NK-cell lymphoma [RCV004557864]	ChrX:151672546 [GRCh38] ChrX:150841018 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1964T>C (p.Leu655Ser)	single nucleotide variant	not specified [RCV004502782]	ChrX:151673975 [GRCh38] ChrX:150842447 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.536A>G (p.Gln179Arg)	single nucleotide variant	not specified [RCV004502787]	ChrX:151623054 [GRCh38] ChrX:150791526 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1187A>C (p.Gln396Pro)	single nucleotide variant	not specified [RCV004502777]	ChrX:151671153 [GRCh38] ChrX:150839625 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1163C>T (p.Thr388Ile)	single nucleotide variant	not specified [RCV004502776]	ChrX:151671129 [GRCh38] ChrX:150839601 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.485C>G (p.Pro162Arg)	single nucleotide variant	not specified [RCV004502786]	ChrX:151623003 [GRCh38] ChrX:150791475 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.926A>G (p.Asp309Gly)	single nucleotide variant	not specified [RCV004502789]	ChrX:151664203 [GRCh38] ChrX:150832675 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1609C>T (p.Arg537Trp)	single nucleotide variant	not specified [RCV004502779]	ChrX:151672354 [GRCh38] ChrX:150840826 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.560C>T (p.Ser187Leu)	single nucleotide variant	not specified [RCV004664216]	ChrX:151625461 [GRCh38] ChrX:150793933 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1333C>A (p.Pro445Thr)	single nucleotide variant	not specified [RCV004650992]	ChrX:151671675 [GRCh38] ChrX:150840147 [GRCh37] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	copy number gain	Klinefelter syndrome [RCV004579655]	ChrX:2757837..156030895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
NM_173493.3(PASD1):c.2197G>C (p.Val733Leu)	single nucleotide variant	not specified [RCV004650993]	ChrX:151676018 [GRCh38] ChrX:150844490 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.272A>G (p.Gln91Arg)	single nucleotide variant	not specified [RCV004650994]	ChrX:151620994 [GRCh38] ChrX:150789466 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.502T>C (p.Tyr168His)	single nucleotide variant	not specified [RCV004650991]	ChrX:151623020 [GRCh38] ChrX:150791492 [GRCh37] ChrX:Xq28	uncertain significance
NC_000023.10:g.(?_54610638)_(154689386_?)dup	duplication	Hereditary factor VIII deficiency disease [RCV004768478]	ChrX:54610638..154689386 [GRCh37] ChrX:Xp11.22-q28	uncertain significance
NM_173493.3(PASD1):c.887T>C (p.Leu296Ser)	single nucleotide variant	not specified [RCV004836335]	ChrX:151664164 [GRCh38] ChrX:150832636 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.883C>G (p.Pro295Ala)	single nucleotide variant	not specified [RCV004836334]	ChrX:151664160 [GRCh38] ChrX:150832632 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.21G>C (p.Lys7Asn)	single nucleotide variant	not specified [RCV004836329]	ChrX:151601574 [GRCh38] ChrX:150770046 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1069C>G (p.Gln357Glu)	single nucleotide variant	not specified [RCV004836336]	ChrX:151664346 [GRCh38] ChrX:150832818 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.50C>A (p.Ser17Tyr)	single nucleotide variant	not specified [RCV004836332]	ChrX:151604667 [GRCh38] ChrX:150773139 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1417C>T (p.Pro473Ser)	single nucleotide variant	not specified [RCV004836324]	ChrX:151671759 [GRCh38] ChrX:150840231 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1557G>C (p.Lys519Asn)	single nucleotide variant	not specified [RCV004836337]	ChrX:151672302 [GRCh38] ChrX:150840774 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1631A>G (p.Gln544Arg)	single nucleotide variant	not specified [RCV004836333]	ChrX:151672376 [GRCh38] ChrX:150840848 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1255G>A (p.Val419Ile)	single nucleotide variant	not specified [RCV004836326]	ChrX:151671597 [GRCh38] ChrX:150840069 [GRCh37] ChrX:Xq28	likely benign
NM_173493.3(PASD1):c.1331G>A (p.Arg444Gln)	single nucleotide variant	not specified [RCV004836325]	ChrX:151671673 [GRCh38] ChrX:150840145 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq27.3-28(chrX:145075197-155233731)x1	copy number loss	not provided [RCV004819417]	ChrX:145075197..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
NM_173493.3(PASD1):c.1636C>T (p.Arg546Trp)	single nucleotide variant	not specified [RCV004830261]	ChrX:151672381 [GRCh38] ChrX:150840853 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1745G>A (p.Arg582Lys)	single nucleotide variant	not specified [RCV004830260]	ChrX:151672490 [GRCh38] ChrX:150840962 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.466G>C (p.Asp156His)	single nucleotide variant	not specified [RCV004836331]	ChrX:151622984 [GRCh38] ChrX:150791456 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1220A>C (p.Asp407Ala)	single nucleotide variant	not specified [RCV004836328]	ChrX:151671186 [GRCh38] ChrX:150839658 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1936C>A (p.Gln646Lys)	single nucleotide variant	not specified [RCV004836327]	ChrX:151673947 [GRCh38] ChrX:150842419 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1556A>C (p.Lys519Thr)	single nucleotide variant	not specified [RCV004836330]	ChrX:151672301 [GRCh38] ChrX:150840773 [GRCh37] ChrX:Xq28	uncertain significance
NM_173493.3(PASD1):c.1781C>T (p.Ser594Phe)	single nucleotide variant	not specified [RCV004836323]	ChrX:151672526 [GRCh38] ChrX:150840998 [GRCh37] ChrX:Xq28	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	709
Count of miRNA genes:	529
Interacting mature miRNAs:	567
Transcripts:	ENST00000370357, ENST00000464219
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597308973	GWAS1405047_H	vaginal microbiome measurement QTL GWAS1405047 (human)		0.000004	vaginal microbiome measurement		X	151669798	151669799	Human
596984270	GWAS1103789_H	telomere length QTL GWAS1103789 (human)		2e-11	telomere length		X	151583872	151583873	Human

c03503sbk

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,844,564 - 150,844,715	UniSTS	GRCh37
Build 36	X	150,595,220 - 150,595,371	RGD	NCBI36
Celera	X	151,092,922 - 151,093,073	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,701,439 - 139,701,590	UniSTS
GeneMap99-GB4 RH Map	X	345.35	UniSTS

SHGC-83595

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,790,164 - 150,790,454	UniSTS	GRCh37
Build 36	X	150,540,820 - 150,541,110	RGD	NCBI36
Celera	X	151,038,909 - 151,039,199	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,647,392 - 139,647,682	UniSTS
TNG Radiation Hybrid Map	X	30661.0	UniSTS

SHGC-147385

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,838,847 - 150,839,137	UniSTS	GRCh37
Build 36	X	150,589,503 - 150,589,793	RGD	NCBI36
Celera	X	151,087,205 - 151,087,495	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,695,726 - 139,696,016	UniSTS
TNG Radiation Hybrid Map	X	30671.0	UniSTS

SHGC-154220

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,808,938 - 150,809,274	UniSTS	GRCh37
Build 36	X	150,559,594 - 150,559,930	RGD	NCBI36
Celera	X	151,057,294 - 151,057,630	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,666,162 - 139,666,498	UniSTS
TNG Radiation Hybrid Map	X	30671.0	UniSTS

SHGC-106509

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,747,209 - 150,747,513	UniSTS	GRCh37
Build 36	X	150,497,865 - 150,498,169	RGD	NCBI36
Celera	X	150,995,898 - 150,996,202	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,604,054 - 139,604,358	UniSTS
TNG Radiation Hybrid Map	X	30641.0	UniSTS

SHGC-154179

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,810,334 - 150,810,646	UniSTS	GRCh37
Build 36	X	150,560,990 - 150,561,302	RGD	NCBI36
Celera	X	151,058,690 - 151,059,002	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,667,552 - 139,667,864	UniSTS
TNG Radiation Hybrid Map	X	30681.0	UniSTS

HSC268_(Di92)

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	150,790,951 - 150,791,199	UniSTS	GRCh37
Build 36	X	150,541,607 - 150,541,855	RGD	NCBI36
Celera	X	151,039,696 - 151,039,946	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	139,648,179 - 139,648,429	UniSTS

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

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
308	603	855	512	1318	316	467	1	87	249	40	660	1431	1327	18	1078	106	701	384	50


RefSeq Transcripts	NG_021218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_173493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011531102	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054326459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF274854	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK097552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY270020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY623425	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC040301	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX546454	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471169	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB095017	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB523527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000370357 ⟹ ENSP00000359382

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	151,563,675 - 151,676,739 (+)	Ensembl

Ensembl Acc Id:

ENST00000464219

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	151,563,729 - 151,676,515 (+)	Ensembl

RefSeq Acc Id:

NM_173493 ⟹ NP_775764

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	151,563,675 - 151,676,739 (+)	NCBI
GRCh37	X	150,732,007 - 150,845,211 (+)	ENTREZGENE
Build 36	X	150,482,663 - 150,595,867 (+)	NCBI Archive
HuRef	X	139,588,945 - 139,702,086 (+)	ENTREZGENE
CHM1_1	X	150,606,474 - 150,720,157 (+)	NCBI
T2T-CHM13v2.0	X	149,831,967 - 149,945,045 (+)	NCBI

Sequence:

show sequence

GCACTCTGGGGCCCACGCACTTCCCTGAAGAGTCTAGAAGCTGCTCCTCATTTCCAGACTTTCCGGGCGCCCACCAGGCTCCCGGGCTCTCACCGGAGACCACAGGGAGGAGCTTCAAGGTACCCCAA
GTCCCTGCGGCCTCCAGCAGTGAAGAGTTCCACAAGGGAGTCTTCCTACGTCACTGAATAATGAATGAAGATGAGAGGGGAAAAGAGAAGAGACAAAGTCAATCCAAAAAGCTCTCAAAGGAAATTAA
ACTGGATTCCATCATTTCCTACCTATGATTACTTCAACCAAGTGACGCTACAGTTATTAGATGGCTTTATGATTACACTGAGCACAGATGGAGTGATCATTTGTGTGGCTGAAAACATCTCTTCTCTT
CTTGGACATTTACCAGCTGAGATTGTGGGCAAAAAATTATTAAGCCTTCTGCCTGATGAAGAGAAAGATGAAGTCTACCAAAAGATTATTCTCAAATTTCCTTTACTAAACTCAGAAACACATATTGA
ATTTTGCTGTCATTTAAAAAGAGGAAATGTCGAACATGGTGATAGTTCTGCTTACGAAAACGTGAAATTTATTGTGAATGTAAGAGATATTTGTAATGAGTTTCCTGTGGTCTTTAGTGGCTTGTTTT
CCAGCCACCTCTGTGCTGACTTTGCTGCATGTGTTCCTCAGGAGGATCGGCTTTATCTTGTGGGAAATGTTTGCATTCTCAGGACTCAGCTCCTGCAGCAACTTTACACTTCAAAGGCAGTCAGTGAT
GAAGCTGTACTTACACAAGATTCAGATGAGGAACCTTTTGTGGGAGAGCTCAGTAGCTCTCAAGGTCAAAGAGGACACACTAGCATGAAAGCCGTGTACGTTGAACCCGCTGCTGCTGCTGCTGCTGC
TGCTATCTCAGACGACCAAATTGATATTGCAGAGGTTGAGCAGTATGGACCACAAGAAAACGTTCACATGTTTGTAGATTCTGATTCAACTTATTGCTCCAGTACAGTTTTCCTGGATACTATGCCTG
AATCTCCAGCCTTATCCTTGCAAGACTTTCGAGGTGAGCCTGAGGTGAATCCATTGTACAGGGCAGACCCAGTGGACCTGGAGTTCTCGGTGGATCAGGTGGACTCAGTGGACCAGGAGGGCCCAATG
GACCAGCAGGACCCAGAGAACCCAGTTGCCCCGTTGGACCAGGCAGGCCTGATGGATCCAGTGGATCCAGAGGACTCAGTGGACCTGGGGGCTGCTGGCGCAAGTGCTCAGCCATTACAGCCATCATC
ACCAGTTGCATATGACATCATTAGCCAGGAACTGGAACTGATGAAGAAGTTGAAGGAGCAGCTAGAAGAGAGGACTTGGTTGCTGCATGATGCCATCCAAAACCAGCAGAATGCATTGGAATTGATGA
TGGATCACCTTCAGAAGCAGCCAAACACATTACGCCACGTTGTCATTCCTGATCTCCAATCTTCGGAGGCAGTGCCCAAGAAACAACAGAAACAACACGCTGGGCAAGTGAAGCGGCCTCTCCCACAT
CCCAAGGACGTCAAGTGTTTCTGTGGTTTATCTTTATCCAACTCTCTCAAAAACACTGGGGAGCTTCAGGAGCCTTGTGTTGCCTTCAACCAGCAGCAACTGGTGCAGCAAGAACAACACCTGAAGGA
GCAGCAGCGGCAGCTGCGGGAGCAGCTGCAACAGCTGAGAGAGCAAAGGAAGGTGCAGAAGCAGAAGAAGATGCAGGAGAAGAAGAAGCTGCAGGAGCAGAAAATGCAGGAGAAGAAGAAGCTGCAGG
AGCAGAGGCGGCAAAAGAAGAAGAAGCTACAGGAGCGGAAGAAGTGGCAGGGGCAGATGCTACAGAAAGAGCCAGAGGAGGAGCAGCAGAAGCAGCAGCTGCAAGAGCAGCCACTGAAGCATAATGTC
ATCGTGGGGAATGAGAGGGTGCAGATATGCCTGCAAAACCCACGTGACGTATCTGTGCCCCTCTGCAATCACCCTGTTAGATTTTTACAGGCCCAACCCATTGTTCCTGTCCAGAGAGCAGCTGAACA
ACAGCCCTCTGGCTTCTATCAAGATGAAAACTGTGGGCAACAGGAAGATGAGAGTCAAAGTTTTTATCCTGAGGCGTATCAAGGGCCCCCCGTGAACCAGCTGCCATTGATAGATACCTCAAACTCTG
AGGCAATTTCTTCTTCCAGCATTCCTCAGTTTCCCATAACTTCAGACTCAACCATAAGCACCCTGGAGACCCCACAGGATTACATCCGGCTTTGGCAAGAGTTGTCTGATTCACTCGGTCCTGTTGTC
CAAGTGAACACTTGGTCTTGCGATGAGCAGGGCACCCTGCACGGCCAACCCACCTACCATCAGGTGCAAGTTTCTGAGGTAGGAGTCGAGGGACCTCCTGATCCACAGGCTTTCCAAGGCCCTGCTGC
ATACCAGCCAGACCAGATGAGATCTGCGGAGCAGACCAGATTGATGCCTGCAGAGCAACGTGACTCAAATAAGCCGTGCTAACAGTACTTTCATGACCAGTGATGAGGGGAAATGGGGGGAGGGGGCA
GGCCAATGAGGTCTGCATGGCCAGGGGACCTTCAAGGTGCGTAAAGTCCCTTGGGGTAGGGTTTAGTGGGTAGAGACTTATTTGTTTCCTGATAGGTTATGTTTGTAATTGTTTGTTAAGCACAGCCT
GTTTCTTGGAAGTTATGCTGTAGAGGCAGCCTGTGATCCGTAGTATGCTAGGGTGTGACAGCAGCCAGCCACAGCTGGATCTGATGTCTTGTCTGCCCCGCCCAGCTTTGCATATCCATGTTCTACCA
CAGGAAGGTGGCCTGCCAAGAGTCTGCTCAAAGTTTTCAACATAAAGAATAAAGAAAAAAAAATGCCAAAGTGCTTTTCAATCTAGTAAATCTAGAGGGTTGTTTTGTCTTAGCCACAAGAATTCCGA
GGTCTTGACCCTGATGATCAACCTGCCTCCCCTCCATAGTCTTGTTGGAGAAGCCCAGAGAGAATGGGACTCCAACTAAGGGAACCTGAAATCAACTCAATGGAGGCACTTCAGAGCTAAAATAATTA
TGGCTTCCTTGCTTAATAAACATTTTCGTTCACTGCAA

hide sequence

RefSeq Acc Id:

XM_011531102 ⟹ XP_011529404

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	151,563,675 - 151,676,739 (+)	NCBI

Sequence:

show sequence

GAGGGAACCGGCTCTGGCCTTGGCCAGCCCAGAAAGGGGCTCCCACAGTGCAGCGGTGGGCTGA
AGGGCTCCTCAAGCGCGGCCAGAGTGGGCGCCAAGGCCGAGGAGGTGCGGAGTGCGAGGGACGGCTGCGAGGGTTGCCAGCTCGCTGTCACCTCTCAGTTCCACAATAGAGCCATGATTGGACTCAAA
AAGACCCCTCTTTTCTGGGATCCATACATTTTCTGGGCTCCATTAGGTCCTGCTTAGGTAGTGCTCAGGGGTCCAGGGAGGGTGGAGAGCCTGTATTGGGGTGGAACCCTTTGACTCGACAAGCTAAG
GGCTACGTTGAAGTGGCTTATCTGCACTCCTAGTTCCAGAGACAGTAGTTATCTCGGGCCCCAACATCGCGAGGTCTAGGGAAAAATGCTACCACTCCTCCCCCCTACTTCCGCTGCCACGCTGCCTC
CATGCCTGCCTCCCCTCTCTGCCACGCCCCCACCACGCGCTTTGCACTCTGGGGCCCACGCACTTCCCTGAAGAGTCTAGAAGCTGCTCCTCATTTCCAGACTTTCCGGGCGCCCACCAGGCTCCCGG
GCTCTCACCGGAGACCACAGGGAGGAGCTTCAAGGTACCCCAAGTCCCTGCGGCCTCCAGCAGTGAAGAGTTCCACAAGGGAGTCTTCCTACGTCACTGAATAATGAATGAAGATGAGAGGGGAAAAG
AGAAGAGACAAAGTCAATCCAAAAAGCTCTCAAAGGAAATTAAACTGGATTCCATCATTTCCTACCTATGATTACTTCAACCAAGTGACGCTACAGTTATTAGATGGCTTTATGATTACACTGAGCAC
AGATGGAGTGATCATTTGTGTGGCTGAAAACATCTCTTCTCTTCTTGGACATTTACCAGCTGAGATTGTGGGCAAAAAATTATTAAGCCTTCTGCCTGATGAAGAGAAAGATGAAGTCTACCAAAAGA
TTATTCTCAAATTTCCTTTACTAAACTCAGAAACACATATTGAATTTTGCTGTCATTTAAAAAGAGGAAATGTCGAACATGGTGATAGTTCTGCTTACGAAAACGTGAAATTTATTGTGAATGTAAGA
GATATTTGTAATGAGTTTCCTGTGGTCTTTAGTGGCTTGTTTTCCAGCCACCTCTGTGCTGACTTTGCTGCATGTGTTCCTCAGGAGGATCGGCTTTATCTTGTGGGAAATGTTTGCATTCTCAGGAC
TCAGCTCCTGCAGCAACTTTACACTTCAAAGGCAGTCAGTGATGAAGCTGTACTTACACAAGATTCAGATGAGGAACCTTTTGTGGGAGAGCTCAGTAGCTCTCAAGGTCAAAGAGGACACACTAGCA
TGAAAGCCGTGTACGTTGAACCCGCTGCTGCTGCTGCTGCTGCTGCTATCTCAGACGACCAAATTGATATTGCAGAGGTTGAGCAGTATGGACCACAAGAAAACGTTCACATGTTTGTAGATTCTGAT
TCAACTTATTGCTCCAGTACAGTTTTCCTGGATACTATGCCTGAATCTCCAGCCTTATCCTTGCAAGACTTTCGAGGTGAGCCTGAGGTGAATCCATTGTACAGGGCAGACCCAGTGGACCTGGAGTT
CTCGGTGGATCAGGTGGACTCAGTGGACCAGGAGGGCCCAATGGACCAGCAGGACCCAGAGAACCCAGTTGCCCCGTTGGACCAGGCAGGCCTGATGGATCCAGTGGATCCAGAGGACTCAGTGGACC
TGGGGGCTGCTGGCGCAAGTGCTCAGCCATTACAGCCATCATCACCAGTTGCATATGACATCATTAGCCAGGAACTGGAACTGATGAAGAAGTTGAAGGAGCAGCTAGAAGAGAGGACTTGGTTGCTG
CATGATGCCATCCAAAACCAGCAGAATGCATTGGAATTGATGATGGATCACCTTCAGAAGCAGCCAAACACATTACGCCACGTTGTCATTCCTGATCTCCAATCTTCGGAGGCAGTGCCCAAGAAACA
ACAGAAACAACACGCTGGGCAAGTGAAGCGGCCTCTCCCACATCCCAAGGACGTCAAGTGTTTCTGTGGTTTATCTTTATCCAACTCTCTCAAAAACACTGGGGAGCTTCAGGAGCCTTGTGTTGCCT
TCAACCAGCAACTGGTGCAGCAAGAACAACACCTGAAGGAGCAGCAGCGGCAGCTGCGGGAGCAGCTGCAACAGCTGAGAGAGCAAAGGAAGGTGCAGAAGCAGAAGAAGATGCAGGAGAAGAAGAAG
CTGCAGGAGCAGAAAATGCAGGAGAAGAAGAAGCTGCAGGAGCAGAGGCGGCAAAAGAAGAAGAAGCTACAGGAGCGGAAGAAGTGGCAGGGGCAGATGCTACAGAAAGAGCCAGAGGAGGAGCAGCA
GAAGCAGCAGCTGCAAGAGCAGCCACTGAAGCATAATGTCATCGTGGGGAATGAGAGGGTGCAGATATGCCTGCAAAACCCACGTGACGTATCTGTGCCCCTCTGCAATCACCCTGTTAGATTTTTAC
AGGCCCAACCCATTGTTCCTGTCCAGAGAGCAGCTGAACAACAGCCCTCTGGCTTCTATCAAGATGAAAACTGTGGGCAACAGGAAGATGAGAGTCAAAGTTTTTATCCTGAGGCGTATCAAGGGCCC
CCCGTGAACCAGCTGCCATTGATAGATACCTCAAACTCTGAGGCAATTTCTTCTTCCAGCATTCCTCAGTTTCCCATAACTTCAGACTCAACCATAAGCACCCTGGAGACCCCACAGGATTACATCCG
GCTTTGGCAAGAGTTGTCTGATTCACTCGGTCCTGTTGTCCAAGTGAACACTTGGTCTTGCGATGAGCAGGGCACCCTGCACGGCCAACCCACCTACCATCAGGTGCAAGTTTCTGAGGTAGGAGTCG
AGGGACCTCCTGATCCACAGGCTTTCCAAGGCCCTGCTGCATACCAGCCAGACCAGATGAGATCTGCGGAGCAGACCAGATTGATGCCTGCAGAGCAACGTGACTCAAATAAGCCGTGCTAACAGTAC
TTTCATGACCAGTGATGAGGGGAAATGGGGGGAGGGGGCAGGCCAATGAGGTCTGCATGGCCAGGGGACCTTCAAGGTGCGTAAAGTCCCTTGGGGTAGGGTTTAGTGGGTAGAGACTTATTTGTTTC
CTGATAGGTTATGTTTGTAATTGTTTGTTAAGCACAGCCTGTTTCTTGGAAGTTATGCTGTAGAGGCAGCCTGTGATCCGTAGTATGCTAGGGTGTGACAGCAGCCAGCCACAGCTGGATCTGATGTC
TTGTCTGCCCCGCCCAGCTTTGCATATCCATGTTCTACCACAGGAAGGTGGCCTGCCAAGAGTCTGCTCAAAGTTTTCAACATAAAGAATAAAGAAAAAAAAATGCCAAAGTGCTTTTCAATCTAGTA
AATCTAGAGGGTTGTTTTGTCTTAGCCACAAGAATTCCGAGGTCTTGACCCTGATGATCAACCTGCCTCCCCTCCATAGTCTTGTTGGAGAAGCCCAGAGAGAATGGGACTCCAACTAAGGGAACCTG
AAATCAACTCAATGGAGGCACTTCAGAGCTAAAATAATTATGGCTTCCTTGCTTAATAAACATTTTCGTTCACTGCAA

hide sequence

RefSeq Acc Id:

XM_054326459 ⟹ XP_054182434

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	149,831,967 - 149,945,045 (+)	NCBI


Protein RefSeqs	NP_775764	(Get FASTA)	NCBI Sequence Viewer
	XP_011529404	(Get FASTA)	NCBI Sequence Viewer
	XP_054182434	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH40301	(Get FASTA)	NCBI Sequence Viewer
	AAQ01136	(Get FASTA)	NCBI Sequence Viewer
	AAT49049	(Get FASTA)	NCBI Sequence Viewer
	BAC05097	(Get FASTA)	NCBI Sequence Viewer
	EAW99406	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000359382
	ENSP00000359382.4
GenBank Protein	Q8IV76	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_775764 ⟸ NM_173493

- UniProtKB:

Q69HD7 (UniProtKB/Swiss-Prot), Q3MNE0 (UniProtKB/Swiss-Prot), Q8N7X9 (UniProtKB/Swiss-Prot), Q8IV76 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MKMRGEKRRDKVNPKSSQRKLNWIPSFPTYDYFNQVTLQLLDGFMITLSTDGVIICVAENISSLLGHLPAEIVGKKLLSLLPDEEKDEVYQKIILKFPLLNSETHIEFCCHLKRGNVEHGDSSAYENV
KFIVNVRDICNEFPVVFSGLFSSHLCADFAACVPQEDRLYLVGNVCILRTQLLQQLYTSKAVSDEAVLTQDSDEEPFVGELSSSQGQRGHTSMKAVYVEPAAAAAAAAISDDQIDIAEVEQYGPQENV
HMFVDSDSTYCSSTVFLDTMPESPALSLQDFRGEPEVNPLYRADPVDLEFSVDQVDSVDQEGPMDQQDPENPVAPLDQAGLMDPVDPEDSVDLGAAGASAQPLQPSSPVAYDIISQELELMKKLKEQL
EERTWLLHDAIQNQQNALELMMDHLQKQPNTLRHVVIPDLQSSEAVPKKQQKQHAGQVKRPLPHPKDVKCFCGLSLSNSLKNTGELQEPCVAFNQQQLVQQEQHLKEQQRQLREQLQQLREQRKVQKQ
KKMQEKKKLQEQKMQEKKKLQEQRRQKKKKLQERKKWQGQMLQKEPEEEQQKQQLQEQPLKHNVIVGNERVQICLQNPRDVSVPLCNHPVRFLQAQPIVPVQRAAEQQPSGFYQDENCGQQEDESQSF
YPEAYQGPPVNQLPLIDTSNSEAISSSSIPQFPITSDSTISTLETPQDYIRLWQELSDSLGPVVQVNTWSCDEQGTLHGQPTYHQVQVSEVGVEGPPDPQAFQGPAAYQPDQMRSAEQTRLMPAEQRD
SNKPC

hide sequence

RefSeq Acc Id:

XP_011529404 ⟸ XM_011531102

- Peptide Label:

isoform X1

- Sequence:

show sequence

MKMRGEKRRDKVNPKSSQRKLNWIPSFPTYDYFNQVTLQLLDGFMITLSTDGVIICVAENISSL
LGHLPAEIVGKKLLSLLPDEEKDEVYQKIILKFPLLNSETHIEFCCHLKRGNVEHGDSSAYENVKFIVNVRDICNEFPVVFSGLFSSHLCADFAACVPQEDRLYLVGNVCILRTQLLQQLYTSKAVSD
EAVLTQDSDEEPFVGELSSSQGQRGHTSMKAVYVEPAAAAAAAAISDDQIDIAEVEQYGPQENVHMFVDSDSTYCSSTVFLDTMPESPALSLQDFRGEPEVNPLYRADPVDLEFSVDQVDSVDQEGPM
DQQDPENPVAPLDQAGLMDPVDPEDSVDLGAAGASAQPLQPSSPVAYDIISQELELMKKLKEQLEERTWLLHDAIQNQQNALELMMDHLQKQPNTLRHVVIPDLQSSEAVPKKQQKQHAGQVKRPLPH
PKDVKCFCGLSLSNSLKNTGELQEPCVAFNQQLVQQEQHLKEQQRQLREQLQQLREQRKVQKQKKMQEKKKLQEQKMQEKKKLQEQRRQKKKKLQERKKWQGQMLQKEPEEEQQKQQLQEQPLKHNVI
VGNERVQICLQNPRDVSVPLCNHPVRFLQAQPIVPVQRAAEQQPSGFYQDENCGQQEDESQSFYPEAYQGPPVNQLPLIDTSNSEAISSSSIPQFPITSDSTISTLETPQDYIRLWQELSDSLGPVVQ
VNTWSCDEQGTLHGQPTYHQVQVSEVGVEGPPDPQAFQGPAAYQPDQMRSAEQTRLMPAEQRDSNKPC

hide sequence

Ensembl Acc Id:

ENSP00000359382 ⟸ ENST00000370357

RefSeq Acc Id:	XP_054182434 ⟸ XM_054326459
- Peptide Label:	isoform X1

Protein Domains

PAS

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q8IV76-F1-model_v2	AlphaFold	Q8IV76	1-773	view protein structure

RGD ID:

6809101

Promoter ID:

HG_KWN:68435

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

NM_173493

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	150,482,511 - 150,483,011 (+)	MPROMDB

RGD ID:

13628340

Promoter ID:

EPDNEW_H29445

Type:

initiation region

Name:

PASD1_1

Description:

PAS domain containing repressor 1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	151,563,691 - 151,563,751	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PASD1	COSMIC
Ensembl Genes	ENSG00000166049	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000370357	ENTREZGENE
	ENST00000370357.5	UniProtKB/Swiss-Prot
Gene3D-CATH	PAS domain	UniProtKB/Swiss-Prot
GTEx	ENSG00000166049	GTEx
HGNC ID	HGNC:20686	ENTREZGENE
Human Proteome Map	PASD1	Human Proteome Map
InterPro	CLOCK-like	UniProtKB/Swiss-Prot
	PAS	UniProtKB/Swiss-Prot
	PAS-like_dom_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:139135	UniProtKB/Swiss-Prot
NCBI Gene	139135	ENTREZGENE
OMIM	300993	OMIM
PANTHER	CIRCADIAN CLOCK PROTEIN PASD1	UniProtKB/Swiss-Prot
	CIRCADIAN LOCOMOTER OUTPUT CYCLES PROTEIN KAPUT	UniProtKB/Swiss-Prot
PharmGKB	PA134909788	PharmGKB
PROSITE	PAS	UniProtKB/Swiss-Prot
SMART	PAS	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF55785	UniProtKB/Swiss-Prot
UniProt	PASD1_HUMAN	UniProtKB/Swiss-Prot
	Q3MNE0	ENTREZGENE
	Q69HD7	ENTREZGENE
	Q8IV76	ENTREZGENE
	Q8N7X9	ENTREZGENE
UniProt Secondary	Q3MNE0	UniProtKB/Swiss-Prot
	Q69HD7	UniProtKB/Swiss-Prot
	Q8N7X9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-01-24	PASD1	PAS domain containing repressor 1		PAS domain containing 1	Symbol and/or name change	5135510	APPROVED

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


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


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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