ASB9 (ankyrin repeat and SOCS box containing 9)

Gene: ASB9 (ankyrin repeat and SOCS box containing 9) Homo sapiens

Analyze

Symbol:

ASB9

Name:

ankyrin repeat and SOCS box containing 9

RGD ID:

1344669

HGNC Page

HGNC:17184

Description:

Acts upstream of or within positive regulation of protein catabolic process and protein ubiquitination. Predicted to be located in cytosol.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

ankyrin repeat and SOCS box protein 9; ankyrin repeat and SOCS box-containing 9; ankyrin repeat and suppressor of cytokine signaling box protein 9; ASB-9; DKFZp564L0862; FLJ20636; MGC4954; testis tissue sperm-binding protein Li 57p

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

ASB9P1

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	15,243,987 - 15,270,467 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	15,235,288 - 15,270,467 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	15,262,109 - 15,288,589 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	15,172,030 - 15,203,654 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	15,021,767 - 15,047,840	NCBI
Celera	X	19,377,104 - 19,404,177 (-)	NCBI		Celera
Cytogenetic Map	X	p22.2	NCBI
HuRef	X	13,019,996 - 13,047,217 (-)	NCBI		HuRef
CHM1_1	X	15,293,063 - 15,319,543 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	14,826,046 - 14,853,350 (-)	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)

Fanconi anemia (IAGP)

genetic disease (IAGP)

multiple congenital anomalies-hypotonia-seizures syndrome 2 (IAGP)

Neurodevelopmental Disorders (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

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

4,4'-sulfonyldiphenol (ISO)

8'-apo-beta,psi-caroten-8'-al (EXP)

aflatoxin B1 (EXP)

aflatoxin M1 (EXP)

all-trans-retinoic acid (EXP)

arsenite(3-) (EXP)

arsenous acid (EXP)

asbestos (EXP)

azathioprine (EXP)

benzo[a]pyrene (EXP)

beta-carotene (EXP)

bisphenol A (EXP,ISO)

CGP 52608 (EXP)

cisplatin (EXP)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

cyclosporin A (EXP)

diarsenic trioxide (EXP)

dicrotophos (EXP)

diquat (ISO)

dorsomorphin (EXP)

folic acid (ISO)

formaldehyde (EXP)

genistein (ISO)

hydrogen peroxide (EXP)

ivermectin (EXP)

lead diacetate (ISO)

methyl methanesulfonate (EXP)

nickel atom (EXP)

panobinostat (EXP)

phenobarbital (ISO)

phenylmercury acetate (EXP)

pirinixic acid (EXP)

quercetin (EXP)

SB 431542 (EXP)

sodium arsenite (EXP)

sodium dichromate (ISO)

sulforaphane (EXP)

trichloroethene (ISO)

trichostatin A (EXP)

urethane (EXP)

valproic acid (EXP)

vorinostat (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

intracellular signal transduction (IEA)

positive regulation of protein catabolic process (IBA,IDA,IEA)

protein ubiquitination (IBA,IDA,IEA)

Cellular Component

cytosol (IEA,TAS)

mitochondrion (IEA)

Molecular Function

protein binding (IPI)

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.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:12076535	PMID:12477932	PMID:14702039	PMID:15489334	PMID:16189514	PMID:16325183	PMID:16344560	PMID:17148442	PMID:18029348	PMID:18680464	PMID:19060904	PMID:19159283
PMID:19275750	PMID:20211142	PMID:20302626	PMID:20878058	PMID:21516116	PMID:21873635	PMID:22418839	PMID:23806657	PMID:23837592	PMID:24337577	PMID:25416956	PMID:25654263
PMID:25814554	PMID:26186194	PMID:27396830	PMID:28514442	PMID:31253590	PMID:31515488	PMID:32296183	PMID:32513959	PMID:32814053	PMID:33268465	PMID:33961781	PMID:36683111

Genomics

Comparative Map Data

ASB9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	X	15,243,987 - 15,270,467 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	X	15,235,288 - 15,270,467 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	X	15,262,109 - 15,288,589 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	15,172,030 - 15,203,654 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	X	15,021,767 - 15,047,840	NCBI
Celera	X	19,377,104 - 19,404,177 (-)	NCBI		Celera
Cytogenetic Map	X	p22.2	NCBI
HuRef	X	13,019,996 - 13,047,217 (-)	NCBI		HuRef
CHM1_1	X	15,293,063 - 15,319,543 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	X	14,826,046 - 14,853,350 (-)	NCBI		T2T-CHM13v2.0

Asb9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	163,280,899 - 163,322,748 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	X	163,289,323 - 163,322,748 (+)	Ensembl		GRCm39 Ensembl
GRCm38	X	164,497,903 - 164,539,752 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	164,506,327 - 164,539,752 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	160,935,835 - 160,977,684 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	X	159,830,579 - 159,883,857 (+)	NCBI		MGSCv36	mm8
Celera	X	147,711,671 - 147,753,666 (+)	NCBI		Celera
Cytogenetic Map	X	F5	NCBI
cM Map	X	76.73	NCBI

Asb9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	X	33,588,484 - 33,633,285 (-)	NCBI		GRCr8
mRatBN7.2	X	29,956,576 - 30,001,436 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	X	29,956,576 - 30,001,105 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	X	30,996,068 - 31,031,823 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	X	34,426,480 - 34,462,346 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	X	30,620,402 - 30,656,160 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	X	31,700,637 - 31,745,790 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	X	31,700,633 - 31,780,425 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	X	32,074,331 - 32,119,069 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	50,712,265 - 50,748,863 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	X	30,303,294 - 30,339,406 (-)	NCBI		Celera
Cytogenetic Map	X	q14	NCBI

Asb9
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0 Ensembl	NW_004955519	2,902,802 - 2,941,433 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955519	2,902,802 - 2,941,358 (+)	NCBI	ChiLan1.0	ChiLan1.0

ASB9
(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	17,041,763 - 17,069,493 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	X	17,045,430 - 17,073,160 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	X	7,869,174 - 7,896,783 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	X	15,152,698 - 15,179,218 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	15,152,698 - 15,179,182 (-)	Ensembl	panpan1.1		panPan2

ASB9
(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	11,505,941 - 11,533,335 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	11,505,941 - 11,533,135 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	11,413,188 - 11,440,572 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	X	11,468,028 - 11,495,417 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	X	11,468,043 - 11,503,671 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	X	11,530,975 - 11,558,331 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	X	11,522,320 - 11,549,680 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	X	11,550,393 - 11,577,769 (-)	NCBI		UU_Cfam_GSD_1.0

Asb9
(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	4,660,432 - 4,692,363 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936470	4,660,443 - 4,692,173 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936470	4,660,417 - 4,692,175 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

ASB9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	X	11,799,636 - 11,828,000 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	11,800,546 - 11,828,251 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	12,761,112 - 12,788,824 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

ASB9
(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	13,708,256 - 13,738,740 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	X	13,708,259 - 13,737,790 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666056	15,548,877 - 15,576,631 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Asb9
(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_female_1.0 Ensembl	NW_004624829	63,605 - 78,016 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624829	63,524 - 86,042 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in ASB9
10 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x3	copy number gain	See cases [RCV000133911]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|likely pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52809182)x1	copy number loss	See cases [RCV000051026]	ChrX:10679..52809182 [GRCh38] ChrX:60679..52838206 [GRCh37] ChrX:679..52854931 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.31-22.2(chrX:9038047-16646589)x2	copy number gain	See cases [RCV000052362]	ChrX:9038047..16646589 [GRCh38] ChrX:9006088..16664712 [GRCh37] ChrX:8966088..16574633 [NCBI36] ChrX:Xp22.31-22.2	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:27245-155996431)x3	copy number gain	See cases [RCV000052324]	ChrX:27245..155996431 [GRCh38] ChrX:77245..155226096 [GRCh37] ChrX:17245..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.3(chrX:675360-46016699)x3	copy number gain	See cases [RCV000052328]	ChrX:675360..46016699 [GRCh38] ChrX:636095..45876134 [GRCh37] ChrX:556095..45761078 [NCBI36] ChrX:Xp22.33-11.3	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-48344725)x1	copy number loss	See cases [RCV000052981]	ChrX:10679..48344725 [GRCh38] ChrX:60679..48204160 [GRCh37] ChrX:679..48089104 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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 Xp22.33-11.21(chrX:26102-57302794)x1	copy number loss	See cases [RCV000052990]	ChrX:26102..57302794 [GRCh38] ChrX:76102..57329227 [GRCh37] ChrX:16102..57345952 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.21(chrX:2769041-58055036)x1	copy number loss	See cases [RCV000053007]	ChrX:2769041..58055036 [GRCh38] ChrX:2687082..58081470 [GRCh37] ChrX:2697082..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.11(chrX:253129-23023165)x1	copy number loss	See cases [RCV000052993]	ChrX:253129..23023165 [GRCh38] ChrX:169796..23041282 [GRCh37] ChrX:109796..22951203 [NCBI36] ChrX:Xp22.33-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:253129-58271563)x1	copy number loss	See cases [RCV000052994]	ChrX:253129..58271563 [GRCh38] ChrX:169796..58297997 [GRCh37] ChrX:109796..58314722 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10679-21811030)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052970]\|See cases [RCV000052970]	ChrX:10679..21811030 [GRCh38] ChrX:60679..21829148 [GRCh37] ChrX:679..21739069 [NCBI36] ChrX:Xp22.33-22.12	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10679-55550898)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052971]\|See cases [RCV000052971]	ChrX:10679..55550898 [GRCh38] ChrX:60679..55577331 [GRCh37] ChrX:679..55594056 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10479-54179172)x3	copy number gain	See cases [RCV000053817]	ChrX:10479..54179172 [GRCh38] ChrX:60479..53957191 [GRCh37] ChrX:479..54222330 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
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 Xp22.33-11.22(chrX:10701-52857805)x1	copy number loss	See cases [RCV000133817]	ChrX:10701..52857805 [GRCh38] ChrX:60701..52886834 [GRCh37] ChrX:701..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-50059388)x1	copy number loss	See cases [RCV000133745]	ChrX:10679..50059388 [GRCh38] ChrX:60679..49824045 [GRCh37] ChrX:679..49710785 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q11.1(chrX:10701-62712219)x1	copy number loss	See cases [RCV000134568]	ChrX:10701..62712219 [GRCh38] ChrX:60701..61931689 [GRCh37] ChrX:701..61848414 [NCBI36] ChrX:Xp22.33-q11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055053)x1	copy number loss	See cases [RCV000134026]	ChrX:10701..58055053 [GRCh38] ChrX:60701..58081487 [GRCh37] ChrX:701..58098212 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.31-11.22(chrX:8176030-53962833)x1	copy number loss	See cases [RCV000135305]	ChrX:8176030..53962833 [GRCh38] ChrX:8144071..53989266 [GRCh37] ChrX:8104071..54005991 [NCBI36] ChrX:Xp22.31-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:233335-37292980)x1	copy number loss	See cases [RCV000135299]	ChrX:233335..37292980 [GRCh38] ChrX:150002..37152232 [GRCh37] ChrX:90002..37037153 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2	copy number gain	See cases [RCV000134875]	ChrX:15173626..23952585 [GRCh38] ChrX:15191748..23970702 [GRCh37] ChrX:15101669..23880623 [NCBI36] ChrX:Xp22.2-22.11	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52857805)x3	copy number gain	See cases [RCV000134957]	ChrX:10679..52857805 [GRCh38] ChrX:60679..52886834 [GRCh37] ChrX:679..52903559 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10679-36186635)x1	copy number loss	See cases [RCV000135551]	ChrX:10679..36186635 [GRCh38] ChrX:60679..36202463 [GRCh37] ChrX:679..36114673 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:2936461-17287323)x2	copy number gain	See cases [RCV000135895]	ChrX:2936461..17287323 [GRCh38] ChrX:2854502..17305446 [GRCh37] ChrX:2864502..17215367 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10679-52213731)x1	copy number loss	See cases [RCV000137112]	ChrX:10679..52213731 [GRCh38] ChrX:60679..51948998 [GRCh37] ChrX:679..51973598 [NCBI36] ChrX:Xp22.33-11.22	pathogenic\|uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-52033734)x1	copy number loss	See cases [RCV000137430]	ChrX:10701..52033734 [GRCh38] ChrX:60701..51776830 [GRCh37] ChrX:701..51793570 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:10701-58055036)x1	copy number loss	See cases [RCV000137552]	ChrX:10701..58055036 [GRCh38] ChrX:60701..58081470 [GRCh37] ChrX:701..58098195 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:10679-16187419)x1	copy number loss	See cases [RCV000137252]	ChrX:10679..16187419 [GRCh38] ChrX:60679..16205542 [GRCh37] ChrX:679..16115463 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-22.12(chrX:10701-21866242)x3	copy number gain	See cases [RCV000137383]	ChrX:10701..21866242 [GRCh38] ChrX:60701..21884360 [GRCh37] ChrX:701..21794281 [NCBI36] ChrX:Xp22.33-22.12	uncertain significance
GRCh38/hg38 Xp22.33-11.23(chrX:10701-49071220)x1	copy number loss	See cases [RCV000137413]	ChrX:10701..49071220 [GRCh38] ChrX:60701..48928877 [GRCh37] ChrX:701..48815821 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-11.23(chrX:10679-49157514)x1	copy number loss	See cases [RCV000137166]	ChrX:10679..49157514 [GRCh38] ChrX:60679..49016667 [GRCh37] ChrX:679..48903611 [NCBI36] ChrX:Xp22.33-11.23	pathogenic
GRCh38/hg38 Xp22.33-q13.3(chrX:10679-76420505)x3	copy number gain	See cases [RCV000137137]	ChrX:10679..76420505 [GRCh38] ChrX:60679..75640898 [GRCh37] ChrX:679..75557302 [NCBI36] ChrX:Xp22.33-q13.3	pathogenic\|likely benign
GRCh38/hg38 Xp22.2-21.2(chrX:12254555-30410580)x1	copy number loss	See cases [RCV000138069]	ChrX:12254555..30410580 [GRCh38] ChrX:12272674..30428697 [GRCh37] ChrX:12182595..30338618 [NCBI36] ChrX:Xp22.2-21.2	pathogenic\|likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:10701-37723318)x1	copy number loss	See cases [RCV000138019]	ChrX:10701..37723318 [GRCh38] ChrX:60701..37318587 [GRCh37] ChrX:701..37467510 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.31-22.2(chrX:9239101-16721153)x1	copy number loss	See cases [RCV000137753]	ChrX:9239101..16721153 [GRCh38] ChrX:9207141..16739276 [GRCh37] ChrX:9167141..16649197 [NCBI36] ChrX:Xp22.31-22.2	uncertain significance
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xp22.33-11.1(chrX:10701-58517661)x1	copy number loss	See cases [RCV000139343]	ChrX:10701..58517661 [GRCh38] ChrX:60701..58544094 [GRCh37] ChrX:701..58560819 [NCBI36] ChrX:Xp22.33-11.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-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 Xp22.33-11.4(chrX:3909315-38682287)x3	copy number gain	See cases [RCV000141261]	ChrX:3909315..38682287 [GRCh38] ChrX:3827356..38541541 [GRCh37] ChrX:3837356..38426485 [NCBI36] ChrX:Xp22.33-11.4	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53750424)x1	copy number loss	See cases [RCV000140711]	ChrX:10701..53750424 [GRCh38] ChrX:60701..53776922 [GRCh37] ChrX:701..53793647 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xp22.33-11.22(chrX:251879-50289363)x1	copy number loss	See cases [RCV000141741]	ChrX:251879..50289363 [GRCh38] ChrX:168546..50032363 [GRCh37] ChrX:108546..50049103 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q12(chrX:251880-66445845)x1	copy number loss	See cases [RCV000142334]	ChrX:251880..66445845 [GRCh38] ChrX:168547..65665687 [GRCh37] ChrX:108547..65582412 [NCBI36] ChrX:Xp22.33-q12	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:251880-51643625)x1	copy number loss	See cases [RCV000142035]	ChrX:251880..51643625 [GRCh38] ChrX:168547..51386559 [GRCh37] ChrX:108547..51403299 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-22.2(chrX:251879-16967290)x1	copy number loss	See cases [RCV000142053]	ChrX:251879..16967290 [GRCh38] ChrX:168546..16985413 [GRCh37] ChrX:108546..16895334 [NCBI36] ChrX:Xp22.33-22.2	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.22(chrX:10701-53131191)x1	copy number loss	See cases [RCV000143348]	ChrX:10701..53131191 [GRCh38] ChrX:60701..53047381 [GRCh37] ChrX:701..53177098 [NCBI36] ChrX:Xp22.33-11.22	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-11.21(chrX:251879-56428859)x1	copy number loss	See cases [RCV000143130]	ChrX:251879..56428859 [GRCh38] ChrX:168546..56455292 [GRCh37] ChrX:108546..56472017 [NCBI36] ChrX:Xp22.33-11.21	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2	copy number gain	See cases [RCV000143774]	ChrX:12856740..19380317 [GRCh38] ChrX:12874859..19398435 [GRCh37] ChrX:12784780..19308356 [NCBI36] ChrX:Xp22.2-22.12	likely pathogenic
GRCh38/hg38 Xp22.33-21.1(chrX:251879-35885004)x1	copy number loss	See cases [RCV000143496]	ChrX:251879..35885004 [GRCh38] ChrX:168546..35903121 [GRCh37] ChrX:108546..35813042 [NCBI36] ChrX:Xp22.33-21.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x1	copy number loss	See cases [RCV000239814]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:70297-58066465)x3	copy number gain	See cases [RCV000239834]	ChrX:70297..58066465 [GRCh37] ChrX:Xp22.33-11.21	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)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: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 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1	copy number loss	See cases [RCV000240335]	ChrX:71267..35809046 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-21.3(chrX:1378591-25940311)x2	copy number gain	See cases [RCV000240441]	ChrX:1378591..25940311 [GRCh37] ChrX:Xp22.33-21.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
GRCh37/hg19 Xp22.33-11.21(chrX:60814-55476165)x1	copy number loss	not provided [RCV000753275]	ChrX:60814..55476165 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43917011)x3	copy number gain	See cases [RCV000449393]	ChrX:168546..43917011 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55529093)x1	copy number loss	See cases [RCV000446584]	ChrX:168546..55529093 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56684082)x1	copy number loss	See cases [RCV000447092]	ChrX:168546..56684082 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-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 Xp22.33-11.22(chrX:168546-52573789)x1	copy number loss	See cases [RCV000447470]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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 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 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58140271)x1	copy number loss	See cases [RCV000447773]	ChrX:168546..58140271 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55240087)x1	copy number loss	See cases [RCV000512136]	ChrX:168546..55240087 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-37515849)x1	copy number loss	See cases [RCV000510590]	ChrX:168546..37515849 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-21.1(chrX:168546-35841052)x1	copy number loss	See cases [RCV000510308]	ChrX:168546..35841052 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58527164)x1	copy number loss	See cases [RCV000510437]	ChrX:168546..58527164 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57504183)x1	copy number loss	See cases [RCV000511615]	ChrX:168546..57504183 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57683964)x1	copy number loss	See cases [RCV000512022]	ChrX:168546..57683964 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168546-31085327)x1	copy number loss	See cases [RCV000511350]	ChrX:168546..31085327 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-54996659)x1	copy number loss	See cases [RCV000510822]	ChrX:168546..54996659 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.2(chrX:14958567-15344086)x3	copy number gain	See cases [RCV000512261]	ChrX:14958567..15344086 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-22.11(chrX:168546-24780527)x3	copy number gain	See cases [RCV000512204]	ChrX:168546..24780527 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-q13.3(chrX:168546-74549686)	copy number loss	See cases [RCV000512142]	ChrX:168546..74549686 [GRCh37] ChrX:Xp22.33-q13.3	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168564-57413442)x1	copy number loss	See cases [RCV000512339]	ChrX:168564..57413442 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.2(chrX:168546-16404364)x1	copy number loss	not provided [RCV000684181]	ChrX:168546..16404364 [GRCh37] ChrX:Xp22.33-22.2	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-18601364)x1	copy number loss	not provided [RCV000684182]	ChrX:168546..18601364 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:168546-23785738)x1	copy number loss	not provided [RCV000684183]	ChrX:168546..23785738 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-11.3(chrX:168546-43248706)x1	copy number loss	not provided [RCV000684184]	ChrX:168546..43248706 [GRCh37] ChrX:Xp22.33-11.3	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:168546-46908284)x1	copy number loss	not provided [RCV000684185]	ChrX:168546..46908284 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-22.12(chrX:201704-20682168)x3	copy number gain	not provided [RCV000684187]	ChrX:201704..20682168 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-51821765)x1	copy number loss	not provided [RCV000753274]	ChrX:60814..51821765 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-11.23(chrX:60814-48317386)x1	copy number loss	not provided [RCV000753273]	ChrX:60814..48317386 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.2(chrX:15256031-15472910)x2	copy number gain	not provided [RCV000753390]	ChrX:15256031..15472910 [GRCh37] ChrX:Xp22.2	benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)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
Single allele	duplication	Autism [RCV000754363]	ChrX:10000..22474705 [GRCh38] ChrX:Xp22.33-22.11	likely 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
Single allele	deletion	Neurodevelopmental disorder [RCV000787440]	ChrX:1..47140860 [GRCh37] ChrX:Xp22.33-11.23	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1	copy number loss	See cases [RCV000790583]	ChrX:60814..50519984 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)	copy number gain	not provided [RCV000767802]	ChrX:801301..23768392 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.33-q11.1(chrX:168546-61877279)x1	copy number loss	not provided [RCV000846273]	ChrX:168546..61877279 [GRCh37] ChrX:Xp22.33-q11.1	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849766]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2	copy number gain	not provided [RCV000849768]	ChrX:13962918..22148232 [GRCh37] ChrX:Xp22.2-22.11	pathogenic
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 Xp22.33-22.12(chrX:1240318-20986848)x2	copy number gain	not provided [RCV001007235]	ChrX:1240318..20986848 [GRCh37] ChrX:Xp22.33-22.12	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:2190434-23795839)x3	copy number gain	not provided [RCV000849574]	ChrX:2190434..23795839 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
GRCh37/hg19 Xp22.2(chrX:15172188-16136635)x2	copy number gain	not provided [RCV000848087]	ChrX:15172188..16136635 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.4(chrX:168546-38054739)x1	copy number loss	not provided [RCV000845671]	ChrX:168546..38054739 [GRCh37] ChrX:Xp22.33-11.4	pathogenic
GRCh37/hg19 Xp22.2(chrX:14897121-15895646)x3	copy number gain	not provided [RCV000846206]	ChrX:14897121..15895646 [GRCh37] ChrX:Xp22.2	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
NC_000023.10:g.(?_14861689)_(15870650_?)dup	duplication	Fanconi anemia [RCV003122305]\|not provided [RCV003105405]	ChrX:14861689..15870650 [GRCh37] ChrX:Xp22.2	uncertain significance\|no classifications from unflagged records
GRCh37/hg19 Xp22.33-21.1(chrX:168546-34753512)x1	copy number loss	not provided [RCV001007559]	ChrX:168546..34753512 [GRCh37] ChrX:Xp22.33-21.1	pathogenic
GRCh37/hg19 Xp22.33-22.11(chrX:537158-22883547)x1	copy number loss	not provided [RCV001007223]	ChrX:537158..22883547 [GRCh37] ChrX:Xp22.33-22.11	pathogenic
NM_001031739.3(ASB9):c.542C>T (p.Ala181Val)	single nucleotide variant	not provided [RCV001573268]	ChrX:15250456 [GRCh38] ChrX:15268578 [GRCh37] ChrX:Xp22.2	likely benign
GRCh37/hg19 Xp22.33-11.21(chrX:539722-55509385)x1	copy number loss	not provided [RCV001007224]	ChrX:539722..55509385 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-22.13(chrX:168546-17502124)x1	copy number loss	not provided [RCV001007200]	ChrX:168546..17502124 [GRCh37] ChrX:Xp22.33-22.13	pathogenic
GRCh37/hg19 Xp22.2(chrX:15069608-15277654)x3	copy number gain	not provided [RCV001260009]	ChrX:15069608..15277654 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.2(chrX:10478359-15357092)x3	copy number gain	not provided [RCV001259461]	ChrX:10478359..15357092 [GRCh37] ChrX:Xp22.2	likely pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-57841304)	copy number loss	Turner syndrome [RCV002280671]	ChrX:168546..57841304 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1	copy number loss	See cases [RCV001263061]	ChrX:219609..55466476 [GRCh37] ChrX:Xp22.33-11.21	pathogenic
GRCh37/hg19 Xp22.33-11.22(chrX:168546-52573789)	copy number loss	Turner syndrome [RCV002280669]	ChrX:168546..52573789 [GRCh37] ChrX:Xp22.33-11.22	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 Xp22.33-11.21(chrX:168546-56457794)x1	copy number loss	not provided [RCV001281358]	ChrX:168546..56457794 [GRCh37] ChrX:Xp22.33-11.21	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	complex	Turner syndrome [RCV002280670]	ChrX:590376..56315041 [GRCh37] ChrX:Xp22.33-11.21	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
NC_000023.10:g.(?_14861689)_(15870650_?)del	deletion	Multiple congenital anomalies-hypotonia-seizures syndrome 2 [RCV003122594]	ChrX:14861689..15870650 [GRCh37] ChrX:Xp22.2	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 Xp22.2-q28(chrX:11522765-155233731)x1	copy number loss	See cases [RCV002286357]	ChrX:11522765..155233731 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:61545-155226048)x2	copy number gain	Klinefelter syndrome [RCV002282732]	ChrX:61545..155226048 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	copy number gain	Klinefelter syndrome [RCV003236730]	ChrX:200855..155240074 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2(chrX:14644702-15779774)x3	copy number gain	not provided [RCV002475875]	ChrX:14644702..15779774 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.739C>A (p.Gln247Lys)	single nucleotide variant	Inborn genetic diseases [RCV002694477]	ChrX:15248765 [GRCh38] ChrX:15266887 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.844G>A (p.Val282Ile)	single nucleotide variant	Inborn genetic diseases [RCV002926537]	ChrX:15244547 [GRCh38] ChrX:15262669 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.395G>C (p.Ser132Thr)	single nucleotide variant	Inborn genetic diseases [RCV002987373]	ChrX:15252292 [GRCh38] ChrX:15270414 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.602C>T (p.Ser201Phe)	single nucleotide variant	Inborn genetic diseases [RCV002878152]	ChrX:15248902 [GRCh38] ChrX:15267024 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.496C>T (p.His166Tyr)	single nucleotide variant	Inborn genetic diseases [RCV003350275]	ChrX:15250502 [GRCh38] ChrX:15268624 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	copy number loss	not provided [RCV003483407]	ChrX:2696762..53113314 [GRCh37] ChrX:Xp22.33-11.22	pathogenic
GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	copy number gain	not provided [RCV003483939]	ChrX:168547..30774453 [GRCh37] ChrX:Xp22.33-21.2	pathogenic
NM_001031739.3(ASB9):c.448_449del (p.Val150fs)	microsatellite	not provided [RCV003441032]	ChrX:15250549..15250550 [GRCh38] ChrX:15268671..15268672 [GRCh37] ChrX:Xp22.2	uncertain significance
NM_001031739.3(ASB9):c.427A>G (p.Arg143Gly)	single nucleotide variant	not provided [RCV003441033]	ChrX:15252260 [GRCh38] ChrX:15270382 [GRCh37] ChrX:Xp22.2	likely benign
GRCh37/hg19 Xp22.2(chrX:13948313-16844723)	copy number gain	not specified [RCV003986236]	ChrX:13948313..16844723 [GRCh37] ChrX:Xp22.2	uncertain significance
GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	copy number loss	not specified [RCV003986240]	ChrX:168546..58364114 [GRCh37] ChrX:Xp22.33-11.1	pathogenic
GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	copy number loss	not specified [RCV003986200]	ChrX:168546..55653170 [GRCh37] ChrX:Xp22.33-11.21	pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2741
Count of miRNA genes:	859
Interacting mature miRNAs:	987
Transcripts:	ENST00000380483, ENST00000380485, ENST00000380488, ENST00000470015, ENST00000473862, ENST00000477346, ENST00000481384, ENST00000484017, ENST00000546332
Prediction methods:	Microtar, Miranda, Pita, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Markers in Region

RH102971

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	15,262,162 - 15,262,304	UniSTS	GRCh37
Build 36	X	15,172,083 - 15,172,225	RGD	NCBI36
Celera	X	19,377,157 - 19,377,299	RGD
Cytogenetic Map	X	p22.2	UniSTS
HuRef	X	13,020,049 - 13,020,191	UniSTS
GeneMap99-GB4 RH Map	X	92.73	UniSTS

SHGC-145813

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	15,267,134 - 15,267,433	UniSTS	GRCh37
Build 36	X	15,177,055 - 15,177,354	RGD	NCBI36
Celera	X	19,382,128 - 19,382,427	RGD
Cytogenetic Map	X	p22.2	UniSTS
HuRef	X	13,024,986 - 13,025,285	UniSTS
TNG Radiation Hybrid Map	X	4846.0	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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

100

103

161

102

426

Low

2118

1478

1462

503

753

357

3077

1065

1080

306

889

1463

159

1189

1692

Below cutoff

248

1417

157

802

1188

1097

2527

136

1083

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016218	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001031739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001168531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024087	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005274446	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011545460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029283	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029284	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029285	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017029286	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024452341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047441842	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054326511	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054326512	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054326513	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC095351	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK000643	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK292270	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL080091	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY337578	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC001244	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC013172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068255	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA943920	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HM005337	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000380483 ⟹ ENSP00000369850

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,243,987 - 15,270,051 (-)	Ensembl

RefSeq Acc Id:

ENST00000380485 ⟹ ENSP00000369852

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,243,987 - 15,270,061 (-)	Ensembl

RefSeq Acc Id:

ENST00000380488 ⟹ ENSP00000369855

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,243,987 - 15,270,083 (-)	Ensembl

RefSeq Acc Id:

ENST00000470015

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,250,530 - 15,270,159 (-)	Ensembl

RefSeq Acc Id:

ENST00000473862

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,244,290 - 15,270,013 (-)	Ensembl

RefSeq Acc Id:

ENST00000477346 ⟹ ENSP00000473542

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,235,288 - 15,254,765 (-)	Ensembl

RefSeq Acc Id:

ENST00000481384

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,250,466 - 15,259,124 (-)	Ensembl

RefSeq Acc Id:

ENST00000484017

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,250,470 - 15,258,974 (-)	Ensembl

RefSeq Acc Id:

ENST00000546332 ⟹ ENSP00000438943

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	X	15,243,989 - 15,270,467 (-)	Ensembl

RefSeq Acc Id:

NM_001031739 ⟹ NP_001026909

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,083 (-)	NCBI
GRCh37	X	15,262,109 - 15,288,589 (-)	RGD
Build 36	X	15,172,030 - 15,203,654 (-)	NCBI Archive
Celera	X	19,377,104 - 19,404,177 (-)	RGD
HuRef	X	13,019,996 - 13,047,217 (-)	RGD
CHM1_1	X	15,293,063 - 15,319,247 (-)	NCBI
T2T-CHM13v2.0	X	14,826,046 - 14,852,966 (-)	NCBI

Sequence:

show sequence

GTACACGAGCGCATGCCTCTCTCTGATCACAGGTAGCACTCAGATTACCCTGCCTGCTCTGTGC
TTTGCTGCAGACCATTTGACCAGAACGTGTGCAGCTCAGCCAGCCACAGAACTGGAATTTTTCA
GGAGCAGGGGGAGCATGGAGTTTGGACTTTGCTGAGCAACTGAAGTGGAGCGCAGAGCTTGCTC
GCTTAGGAGAGAGCATCATGGATGGCAAACAAGGGGGCATGGATGGGAGCAAGCCCGCGGGGCC
AAGGGACTTTCCTGGCATCAGGCTTCTTTCAAACCCATTGATGGGCGATGCTGTGTCTGATTGG
TCTCCTATGCATGAAGCTGCAATCCACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCAGG
GGTGGGCTGTGAACATCATCACGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTTGGAGG
TCATCTCTCTTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGGTGAATGGTGTGACAGCAGAC
TGGCACACTCCACTGTTTAATGCTTGTGTCAGCGGCAGCTGGGATTGTGTGAATTTGCTTCTGC
AGCACGGAGCCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCATCCATGAAGCTGCTAGGAG
AGGCCACGTGGAGTGTGTCAACTCTCTTATAGCTTATGGGGGCAACATTGACCATAAGATCAGC
CACCTGGGCACTCCACTCTATTTGGCTTGTGAAAACCAACAGAGAGCCTGTGTCAAGAAGCTTC
TGGAGTCAGGAGCGGACGTGAACCAAGGGAAAGGTCAGGATTCCCCACTTCATGCAGTGGCCAG
GACAGCCAGTGAAGAGCTGGCCTGCCTGCTCATGGATTTTGGAGCGGACACCCAGGCCAAGAAT
GCTGAAGGCAAACGTCCTGTGGAGCTGGTGCCTCCAGAGAGCCCCTTGGCCCAGCTCTTCTTGG
AGAGAGAAGGGCCCCCTTCTTTGATGCAGTTATGCCGCCTTAGAATTCGGAAGTGTTTTGGAAT
CCAGCAGCATCATAAGATAACCAAACTCGTCCTCCCAGAGGATCTGAAACAGTTTCTCCTACAT
CTTTAAATGCATCTAGGGAATGGATTCACAAACGATGTGAAAACATTATTGAGTGTTGTAGCCA
CTAGAATTTTAAAATCAAGTTGGATTTATAGAGTTTGACTAGTTTTTTCGATTAGATTTGTATT
TGTTATAAACTTGTTTATGGAGTTTGACTAATTTTTTCTATTCAATTTGTATTTGTTAAACTCA
AGCCAGGGTTGAAAGACACTGCATACGTTTGTATTATTAGTTAGAAGGCATGAAGACTTTTTTC
CCTGCATGGAGAGTGTCATAAGTTATTGTTTTGCATATCTACTGCATGCCAAGCACTTTCTGCA
TCATCTAATTTAGCCCTCACAGCCACTGGGTCAAGATGTCCAATTTTCCAGAGTAAGGATAGAG
GAGTCAAATTCAAATACAGGTTTTCTGACATTAACTTATGTGATGACTTGATCGAGGCAGGCTT
TTCCAGCATCACTGTCCTGGTTCCATCTCTGCTATATGGGAATGAAAATAAAGAAACATATTTC
TTGGCTTGTCTAA

hide sequence

RefSeq Acc Id:

NM_001168530 ⟹ NP_001162002

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,083 (-)	NCBI
GRCh37	X	15,262,109 - 15,288,589 (-)	RGD
Celera	X	19,377,104 - 19,404,177 (-)	RGD
HuRef	X	13,019,996 - 13,047,217 (-)	RGD
CHM1_1	X	15,293,063 - 15,319,247 (-)	NCBI
T2T-CHM13v2.0	X	14,826,046 - 14,852,966 (-)	NCBI

Sequence:

show sequence

GTACACGAGCGCATGCCTCTCTCTGATCACAGGTAGCACTCAGATTACCCTGCCTGCTCTGTGC
TTTGCTGCAGACCATTTGACCAGAACGTGTGCAGCTCAGCCAGCCACAGAACTGGAATTTTTCA
GGAGCAGGGGGAGCATGGAGTTTGGACTTTGCTGAGCAACTGAAGTGGAGCGCAGAGCTTGCTC
GCTTAGGAGAGAGCATCATGGATGGCAAACAAGGGGGCATGGATGGGAGCAAGCCCGCGGGGCC
AAGGGACTTTCCTGGCATCAGGCTTCTTTCAAACCCATTGATGGGCGATGCTGTGTCTGATTGG
TCTCCTATGCATGAAGCTGCAATCCACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCAGG
GGTGGGCTGTGAACATCATCACGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTTGGAGG
TCATCTCTCTTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGGTGAATGGTGTGACAGCAGAC
TGGCACACTCCACTGTTTAATGCTTGTGTCAGCGGCAGCTGGGATTGTGTGAATTTGCTTCTGC
AGCACGGAGCCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCATCCATGAAGCTGCTAGGAG
AGCTTATGGGGGCAACATTGACCATAAGATCAGCCACCTGGGCACTCCACTCTATTTGGCTTGT
GAAAACCAACAGAGAGCCTGTGTCAAGAAGCTTCTGGAGTCAGGAGCGGACGTGAACCAAGGGA
AAGGTCAGGATTCCCCACTTCATGCAGTGGCCAGGACAGCCAGTGAAGAGCTGGCCTGCCTGCT
CATGGATTTTGGAGCGGACACCCAGGCCAAGAATGCTGAAGGCAAACGTCCTGTGGAGCTGGTG
CCTCCAGAGAGCCCCTTGGCCCAGCTCTTCTTGGAGAGAGAAGGTGCTTCTTTGCCAAAACCTA
AGCCCTAATCTGTTGACATCCCTTGGGGCTCTAGTAGAAGGGCCCCCTTCTTTGATGCAGTTAT
GCCGCCTTAGAATTCGGAAGTGTTTTGGAATCCAGCAGCATCATAAGATAACCAAACTCGTCCT
CCCAGAGGATCTGAAACAGTTTCTCCTACATCTTTAAATGCATCTAGGGAATGGATTCACAAAC
GATGTGAAAACATTATTGAGTGTTGTAGCCACTAGAATTTTAAAATCAAGTTGGATTTATAGAG
TTTGACTAGTTTTTTCGATTAGATTTGTATTTGTTATAAACTTGTTTATGGAGTTTGACTAATT
TTTTCTATTCAATTTGTATTTGTTAAACTCAAGCCAGGGTTGAAAGACACTGCATACGTTTGTA
TTATTAGTTAGAAGGCATGAAGACTTTTTTCCCTGCATGGAGAGTGTCATAAGTTATTGTTTTG
CATATCTACTGCATGCCAAGCACTTTCTGCATCATCTAATTTAGCCCTCACAGCCACTGGGTCA
AGATGTCCAATTTTCCAGAGTAAGGATAGAGGAGTCAAATTCAAATACAGGTTTTCTGACATTA
ACTTATGTGATGACTTGATCGAGGCAGGCTTTTCCAGCATCACTGTCCTGGTTCCATCTCTGCT
ATATGGGAATGAAAATAAAGAAACATATTTCTTGGCTTGTCTAA

hide sequence

RefSeq Acc Id:

NM_001168531 ⟹ NP_001162003

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,467 (-)	NCBI
GRCh37	X	15,262,109 - 15,288,589 (-)	RGD
Celera	X	19,377,104 - 19,404,177 (-)	RGD
HuRef	X	13,019,996 - 13,047,217 (-)	RGD
CHM1_1	X	15,293,063 - 15,319,543 (-)	NCBI
T2T-CHM13v2.0	X	14,826,046 - 14,853,350 (-)	NCBI

Sequence:

show sequence

GTACAGATGGCCAGGGCGTGCTGTGCATGTTACTGTGCAAGCAATTCAGCAGGGCTGCTGCAAA
ACCAGCTTTCTCAGCTCTGGGTGCTCGGGCTTGTCTCCATAACAAGCTACCATGTAACAAACGG
ATCTCAGCAGGGTGAACAACAGTTGCAGAAAGTGAGCTGTTTCCTTCACCCCCACCCTGCTCCC
TTCACTCTCAAAAGTTACAAACTGAGTTTCCTTCCTGATAAACTCCAAGGCTTCCTCACTGATT
GGTCTCAGTTTGGGAAAGGACGTGACATCAGCAACTTCGCAGACTTAGGGCTGGAGGGTTCTTG
TGGCCTCTGGCGGGCCTCCAGCCAGTTAGACCATTTGACCAGAACGTGTGCAGCTCAGCCAGCC
ACAGAACTGGAATTTTTCAGGAGCAGGGGGAGCATGGAGTTTGGACTTTGCTGAGCAACTGAAG
TGGAGCGCAGAGCTTGCTCGCTTAGGAGAGAGCATCATGGATGGCAAACAAGGGGGCATGGATG
GGAGCAAGCCCGCGGGGCCAAGGGACTTTCCTGGCATCAGGCTTCTTTCAAACCCATTGATGGG
CGATGCTGTGTCTGATTGGTCTCCTATGCATGAAGCTGCAATCCACGGACATCAGCTGTCTCTG
AGGAACCTCATCAGCCAGGGGTGGGCTGTGAACATCATCACGGCAGATCATGTTTCCCCACTCC
ATGAAGCCTGTCTTGGAGGTCATCTCTCTTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGGT
GAATGGTGTGACAGCAGACTGGCACACTCCACTGTTTAATGCTTGTGTCAGCGGCAGCTGGGAT
TGTGTGAATTTGCTTCTGCAGCACGGAGCCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCA
TCCATGAAGCTGCTAGGAGAGGCCACGTGGAGTGTGTCAACTCTCTTATAGCTTATGGGGGCAA
CATTGACCATAAGATCAGCCACCTGGGCACTCCACTCTATTTGGCTTGTGAAAACCAACAGAGA
GCCTGTGTCAAGAAGCTTCTGGAGTCAGGAGCGGACGTGAACCAAGGGAAAGGTCAGGATTCCC
CACTTCATGCAGTGGCCAGGACAGCCAGTGAAGAGCTGGCCTGCCTGCTCATGGATTTTGGAGC
GGACACCCAGGCCAAGAATGCTGAAGGCAAACGTCCTGTGGAGCTGGTGCCTCCAGAGAGCCCC
TTGGCCCAGCTCTTCTTGGAGAGAGAAGGTGCTTCTTTGCCAAAACCTAAGCCCTAATCTGTTG
ACATCCCTTGGGGCTCTAGTAGAAGGGCCCCCTTCTTTGATGCAGTTATGCCGCCTTAGAATTC
GGAAGTGTTTTGGAATCCAGCAGCATCATAAGATAACCAAACTCGTCCTCCCAGAGGATCTGAA
ACAGTTTCTCCTACATCTTTAAATGCATCTAGGGAATGGATTCACAAACGATGTGAAAACATTA
TTGAGTGTTGTAGCCACTAGAATTTTAAAATCAAGTTGGATTTATAGAGTTTGACTAGTTTTTT
CGATTAGATTTGTATTTGTTATAAACTTGTTTATGGAGTTTGACTAATTTTTTCTATTCAATTT
GTATTTGTTAAACTCAAGCCAGGGTTGAAAGACACTGCATACGTTTGTATTATTAGTTAGAAGG
CATGAAGACTTTTTTCCCTGCATGGAGAGTGTCATAAGTTATTGTTTTGCATATCTACTGCATG
CCAAGCACTTTCTGCATCATCTAATTTAGCCCTCACAGCCACTGGGTCAAGATGTCCAATTTTC
CAGAGTAAGGATAGAGGAGTCAAATTCAAATACAGGTTTTCTGACATTAACTTATGTGATGACT
TGATCGAGGCAGGCTTTTCCAGCATCACTGTCCTGGTTCCATCTCTGCTATATGGGAATGAAAA
TAAAGAAACATATTTCTTGGCTTGTCTAA

hide sequence

RefSeq Acc Id:

NM_024087 ⟹ NP_076992

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,083 (-)	NCBI
GRCh37	X	15,262,109 - 15,288,589 (-)	RGD
Build 36	X	15,172,030 - 15,198,104 (-)	NCBI Archive
Celera	X	19,377,104 - 19,404,177 (-)	RGD
HuRef	X	13,019,996 - 13,047,217 (-)	RGD
CHM1_1	X	15,293,063 - 15,319,247 (-)	NCBI
T2T-CHM13v2.0	X	14,826,046 - 14,852,966 (-)	NCBI

Sequence:

show sequence

GTACACGAGCGCATGCCTCTCTCTGATCACAGGTAGCACTCAGATTACCCTGCCTGCTCTGTGC
TTTGCTGCAGACCATTTGACCAGAACGTGTGCAGCTCAGCCAGCCACAGAACTGGAATTTTTCA
GGAGCAGGGGGAGCATGGAGTTTGGACTTTGCTGAGCAACTGAAGTGGAGCGCAGAGCTTGCTC
GCTTAGGAGAGAGCATCATGGATGGCAAACAAGGGGGCATGGATGGGAGCAAGCCCGCGGGGCC
AAGGGACTTTCCTGGCATCAGGCTTCTTTCAAACCCATTGATGGGCGATGCTGTGTCTGATTGG
TCTCCTATGCATGAAGCTGCAATCCACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCAGG
GGTGGGCTGTGAACATCATCACGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTTGGAGG
TCATCTCTCTTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGGTGAATGGTGTGACAGCAGAC
TGGCACACTCCACTGTTTAATGCTTGTGTCAGCGGCAGCTGGGATTGTGTGAATTTGCTTCTGC
AGCACGGAGCCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCATCCATGAAGCTGCTAGGAG
AGGCCACGTGGAGTGTGTCAACTCTCTTATAGCTTATGGGGGCAACATTGACCATAAGATCAGC
CACCTGGGCACTCCACTCTATTTGGCTTGTGAAAACCAACAGAGAGCCTGTGTCAAGAAGCTTC
TGGAGTCAGGAGCGGACGTGAACCAAGGGAAAGGTCAGGATTCCCCACTTCATGCAGTGGCCAG
GACAGCCAGTGAAGAGCTGGCCTGCCTGCTCATGGATTTTGGAGCGGACACCCAGGCCAAGAAT
GCTGAAGGCAAACGTCCTGTGGAGCTGGTGCCTCCAGAGAGCCCCTTGGCCCAGCTCTTCTTGG
AGAGAGAAGGTGCTTCTTTGCCAAAACCTAAGCCCTAATCTGTTGACATCCCTTGGGGCTCTAG
TAGAAGGGCCCCCTTCTTTGATGCAGTTATGCCGCCTTAGAATTCGGAAGTGTTTTGGAATCCA
GCAGCATCATAAGATAACCAAACTCGTCCTCCCAGAGGATCTGAAACAGTTTCTCCTACATCTT
TAAATGCATCTAGGGAATGGATTCACAAACGATGTGAAAACATTATTGAGTGTTGTAGCCACTA
GAATTTTAAAATCAAGTTGGATTTATAGAGTTTGACTAGTTTTTTCGATTAGATTTGTATTTGT
TATAAACTTGTTTATGGAGTTTGACTAATTTTTTCTATTCAATTTGTATTTGTTAAACTCAAGC
CAGGGTTGAAAGACACTGCATACGTTTGTATTATTAGTTAGAAGGCATGAAGACTTTTTTCCCT
GCATGGAGAGTGTCATAAGTTATTGTTTTGCATATCTACTGCATGCCAAGCACTTTCTGCATCA
TCTAATTTAGCCCTCACAGCCACTGGGTCAAGATGTCCAATTTTCCAGAGTAAGGATAGAGGAG
TCAAATTCAAATACAGGTTTTCTGACATTAACTTATGTGATGACTTGATCGAGGCAGGCTTTTC
CAGCATCACTGTCCTGGTTCCATCTCTGCTATATGGGAATGAAAATAAAGAAACATATTTCTTG
GCTTGTCTAA

hide sequence

RefSeq Acc Id:

XM_017029283 ⟹ XP_016884772

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,467 (-)	NCBI

Sequence:

show sequence

AAAGCACATGTACAGATGGCCAGGGCGTGCTGTGCATGTTACTGTGCAAGCAATTCAGCAGGGC
TGCTGCAAAACCAGCTTTCTCAGCTCTGGGTGCTCGGGCTTGTCTCCATAACAAGCTACCATGT
AACAAACGGATCTCAGCAGGGTGAACAACAGTTGCAGAAAGTGAGCTGTTTCCTTCACCCCCAC
CCTGCTCCCTTCACTCTCAAAAGTTACAAACTGAGTTTCCTTCCTGATAAACTCCAAGGCTTCC
TCACTGATTGGTCTCAGTTTGGGAAAGGACGTGACATCAGCAACTTCGCAGACTTAGGGCTGGA
GGGTTCTTGTGGCCTCTGGCGGGCCTCCAGCCAGTTAGATGCTGTGTCTGATTGGTCTCCTATG
CATGAAGCTGCAATCCACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCAGGGGTGGGCTG
TGAACATCATCACGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTTGGAGGTCATCTCTC
TTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGGTGAATGGTGTGACAGCAGACTGGCACACT
CCACTGTTTAATGCTTGTGTCAGCGGCAGCTGGGATTGTGTGAATTTGCTTCTGCAGCACGGAG
CCAGCGTTCAACCTGAGAGTGATCTGGCATCCCCCATCCATGAAGCTGCTAGGAGAGGCCACGT
GGAGTGTGTCAACTCTCTTATAGCTTATGGGGGCAACATTGACCATAAGATCAGCCACCTGGGC
ACTCCACTCTATTTGGCTTGTGAAAACCAACAGAGAGCCTGTGTCAAGAAGCTTCTGGAGTCAG
GAGCGGACGTGAACCAAGGGAAAGGTCAGGATTCCCCACTTCATGCAGTGGCCAGGACAGCCAG
TGAAGAGCTGGCCTGCCTGCTCATGGATTTTGGAGCGGACACCCAGGCCAAGAATGCTGAAGGC
AAACGTCCTGTGGAGCTGGTGCCTCCAGAGAGCCCCTTGGCCCAGCTCTTCTTGGAGAGAGAAG
GGCCCCCTTCTTTGATGCAGTTATGCCGCCTTAGAATTCGGAAGTGTTTTGGAATCCAGCAGCA
TCATAAGATAACCAAACTCGTCCTCCCAGAGGATCTGAAACAGTTTCTCCTACATCTTTAAATG
CATCTAGGGAATGGATTCACAAACGATGTGAAAACATTATTGAGTGTTGTAGCCACTAGAATTT
TAAAATCAAGTTGGATTTATAGAGTTTGACTAGTTTTTTCGATTAGATTTGTATTTGTTATAAA
CTTGTTTATGGAGTTTGACTAATTTTTTCTATTCAATTTGTATTTGTTAAACTCAAGCCAGGGT
TGAAAGACACTGCATACGTTTGTATTATTAGTTAGAAGGCATGAAGACTTTTTTCCCTGCATGG
AGAGTGTCATAAGTTATTGTTTTGCATATCTACTGCATGCCAAGCACTTTCTGCATCATCTAAT
TTAGCCCTCACAGCCACTGGGTCAAGATGTCCAATTTTCCAGAGTAAGGATAGAGGAGTCAAAT
TCAAATACAGGTTTTCTGACATTAACTTATGTGATGACTTGATCGAGGCAGGCTTTTCCAGCAT
CACTGTCCTGGTTCCATCTCTGCTATATGGGAATGAAAATAAAGAAACATATTTCTTGGCTTGT
CTAA

hide sequence

RefSeq Acc Id:

XM_017029284 ⟹ XP_016884773

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,467 (-)	NCBI

Sequence:

show sequence

AAAGCACATGTACAGATGGCCAGGGCGTGCTGTGCATGTTACTGTGCAAGCAATTCAGCAGGGC
TGCTGCAAAACCAGCTTTCTCAGCTCTGGGTGCTCGGGCTTGTCTCCATAACAAGCTACCATGT
AACAAACGGATCTCAGCAGGGTGAACAACAGTTGCAGAAAGTGAGCTGTTTCCTTCACCCCCAC
CCTGCTCCCTTCACTCTCAAAAGTTACAAACTGAGTTTCCTTCCTGATAAACTCCAAGGCTTCC
TCACTGATTGGTCTCAGTTTGGGAAAGGACGTGACATCAGCAACTTCGCAGACTTAGGGCTGGA
GGGTTCTTGTGGCCTCTGGCGGGCCTCCAGCCAGTTAGATGCTGTGTCTGATTGGTCTCCTATG
CATGAAGCTGCAATCCACGGACATCAGCTGTCTCTGAGGAACCTCATCAGCCAGGGGTGGGCTG
TGAACATCATCACGGCAGATCATGTTTCCCCACTCCATGAAGCCTGTCTTGGAGGTCATCTCTC
TTGTGTGAAGATTTTATTAAAGCATGGAGCTCAGCACGGAGCCAGCGTTCAACCTGAGAGTGAT
CTGGCATCCCCCATCCATGAAGCTGCTAGGAGAGGCCACGTGGAGTGTGTCAACTCTCTTATAG
CTTATGGGGGCAACATTGACCATAAGATCAGCCACCTGGGCACTCCACTCTATTTGGCTTGTGA
AAACCAACAGAGAGCCTGTGTCAAGAAGCTTCTGGAGTCAGGAGCGGACGTGAACCAAGGGAAA
GGTCAGGATTCCCCACTTCATGCAGTGGCCAGGACAGCCAGTGAAGAGCTGGCCTGCCTGCTCA
TGGATTTTGGAGCGGACACCCAGGCCAAGAATGCTGAAGGCAAACGTCCTGTGGAGCTGGTGCC
TCCAGAGAGCCCCTTGGCCCAGCTCTTCTTGGAGAGAGAAGGGCCCCCTTCTTTGATGCAGTTA
TGCCGCCTTAGAATTCGGAAGTGTTTTGGAATCCAGCAGCATCATAAGATAACCAAACTCGTCC
TCCCAGAGGATCTGAAACAGTTTCTCCTACATCTTTAAATGCATCTAGGGAATGGATTCACAAA
CGATGTGAAAACATTATTGAGTGTTGTAGCCACTAGAATTTTAAAATCAAGTTGGATTTATAGA
GTTTGACTAGTTTTTTCGATTAGATTTGTATTTGTTATAAACTTGTTTATGGAGTTTGACTAAT
TTTTTCTATTCAATTTGTATTTGTTAAACTCAAGCCAGGGTTGAAAGACACTGCATACGTTTGT
ATTATTAGTTAGAAGGCATGAAGACTTTTTTCCCTGCATGGAGAGTGTCATAAGTTATTGTTTT
GCATATCTACTGCATGCCAAGCACTTTCTGCATCATCTAATTTAGCCCTCACAGCCACTGGGTC
AAGATGTCCAATTTTCCAGAGTAAGGATAGAGGAGTCAAATTCAAATACAGGTTTTCTGACATT
AACTTATGTGATGACTTGATCGAGGCAGGCTTTTCCAGCATCACTGTCCTGGTTCCATCTCTGC
TATATGGGAATGAAAATAAAGAAACATATTTCTTGGCTTGTCTAA

hide sequence

RefSeq Acc Id:

XM_047441842 ⟹ XP_047297798

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,243,987 - 15,270,083 (-)	NCBI

RefSeq Acc Id:

XM_054326511 ⟹ XP_054182486

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	14,826,046 - 14,853,350 (-)	NCBI

RefSeq Acc Id:

XM_054326512 ⟹ XP_054182487

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	14,826,046 - 14,853,350 (-)	NCBI

RefSeq Acc Id:

XM_054326513 ⟹ XP_054182488

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	X	14,826,046 - 14,852,966 (-)	NCBI

Protein Sequences


Protein RefSeqs	NP_001026909	(Get FASTA)	NCBI Sequence Viewer
	NP_001162002	(Get FASTA)	NCBI Sequence Viewer
	NP_001162003	(Get FASTA)	NCBI Sequence Viewer
	NP_076992	(Get FASTA)	NCBI Sequence Viewer
	XP_016884772	(Get FASTA)	NCBI Sequence Viewer
	XP_016884773	(Get FASTA)	NCBI Sequence Viewer
	XP_047297798	(Get FASTA)	NCBI Sequence Viewer
	XP_054182486	(Get FASTA)	NCBI Sequence Viewer
	XP_054182487	(Get FASTA)	NCBI Sequence Viewer
	XP_054182488	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH01244	(Get FASTA)	NCBI Sequence Viewer
	AAH13172	(Get FASTA)	NCBI Sequence Viewer
	AAQ17469	(Get FASTA)	NCBI Sequence Viewer
	AEE60937	(Get FASTA)	NCBI Sequence Viewer
	BAA91302	(Get FASTA)	NCBI Sequence Viewer
	BAF84959	(Get FASTA)	NCBI Sequence Viewer
	CAB45706	(Get FASTA)	NCBI Sequence Viewer
	EAW98870	(Get FASTA)	NCBI Sequence Viewer
	EAW98871	(Get FASTA)	NCBI Sequence Viewer
	EAW98872	(Get FASTA)	NCBI Sequence Viewer
	EAW98873	(Get FASTA)	NCBI Sequence Viewer
	EAW98874	(Get FASTA)	NCBI Sequence Viewer
	EAW98875	(Get FASTA)	NCBI Sequence Viewer
	EAW98876	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000369850
	ENSP00000369850.3
	ENSP00000369852
	ENSP00000369852.3
	ENSP00000369855
	ENSP00000369855.4
	ENSP00000438943
	ENSP00000438943.1
	ENSP00000473542.1
GenBank Protein	Q96DX5	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001162003 ⟸ NM_001168531
- Peptide Label:	isoform 2
- UniProtKB:	Q7Z4A2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDGKQGGMDGSKPAGPRDFPGIRLLSNPLMGDAVSDWSPMHEAAIHGHQLSLRNLISQGWAVNI ITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHTPLFNACVSGSWDCVNLLLQHGASV QPESDLASPIHEAARRGHVECVNSLIAYGGNIDHKISHLGTPLYLACENQQRACVKKLLESGAD VNQGKGQDSPLHAVARTASEELACLLMDFGADTQAKNAEGKRPVELVPPESPLAQLFLEREGAS LPKPKP hide sequence

RefSeq Acc Id:	NP_001026909 ⟸ NM_001031739
- Peptide Label:	isoform 1
- UniProtKB:	Q9NWS5 (UniProtKB/Swiss-Prot), Q9BVF5 (UniProtKB/Swiss-Prot), A8K8A5 (UniProtKB/Swiss-Prot), Q9Y4T3 (UniProtKB/Swiss-Prot), Q96DX5 (UniProtKB/Swiss-Prot), A0A024RBW7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDGKQGGMDGSKPAGPRDFPGIRLLSNPLMGDAVSDWSPMHEAAIHGHQLSLRNLISQGWAVNI ITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHTPLFNACVSGSWDCVNLLLQHGASV QPESDLASPIHEAARRGHVECVNSLIAYGGNIDHKISHLGTPLYLACENQQRACVKKLLESGAD VNQGKGQDSPLHAVARTASEELACLLMDFGADTQAKNAEGKRPVELVPPESPLAQLFLEREGPP SLMQLCRLRIRKCFGIQQHHKITKLVLPEDLKQFLLHL hide sequence

RefSeq Acc Id:	NP_076992 ⟸ NM_024087
- Peptide Label:	isoform 2
- UniProtKB:	Q7Z4A2 (UniProtKB/TrEMBL)
- Sequence:	show sequence MDGKQGGMDGSKPAGPRDFPGIRLLSNPLMGDAVSDWSPMHEAAIHGHQLSLRNLISQGWAVNI ITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHTPLFNACVSGSWDCVNLLLQHGASV QPESDLASPIHEAARRGHVECVNSLIAYGGNIDHKISHLGTPLYLACENQQRACVKKLLESGAD VNQGKGQDSPLHAVARTASEELACLLMDFGADTQAKNAEGKRPVELVPPESPLAQLFLEREGAS LPKPKP hide sequence

RefSeq Acc Id:

NP_001162002 ⟸ NM_001168530

- Peptide Label:

isoform 3

- Sequence:

show sequence

MDGKQGGMDGSKPAGPRDFPGIRLLSNPLMGDAVSDWSPMHEAAIHGHQLSLRNLISQGWAVNI
ITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHTPLFNACVSGSWDCVNLLLQHGASV
QPESDLASPIHEAARRAYGGNIDHKISHLGTPLYLACENQQRACVKKLLESGADVNQGKGQDSP
LHAVARTASEELACLLMDFGADTQAKNAEGKRPVELVPPESPLAQLFLEREGASLPKPKP

hide sequence

RefSeq Acc Id:

XP_016884773 ⟸ XM_017029284

- Peptide Label:

isoform X2

- Sequence:

show sequence

MARACCACYCASNSAGLLQNQLSQLWVLGLVSITSYHVTNGSQQGEQQLQKVSCFLHPHPAPFT
LKSYKLSFLPDKLQGFLTDWSQFGKGRDISNFADLGLEGSCGLWRASSQLDAVSDWSPMHEAAI
HGHQLSLRNLISQGWAVNIITADHVSPLHEACLGGHLSCVKILLKHGAQHGASVQPESDLASPI
HEAARRGHVECVNSLIAYGGNIDHKISHLGTPLYLACENQQRACVKKLLESGADVNQGKGQDSP
LHAVARTASEELACLLMDFGADTQAKNAEGKRPVELVPPESPLAQLFLEREGPPSLMQLCRLRI
RKCFGIQQHHKITKLVLPEDLKQFLLHL

hide sequence

RefSeq Acc Id:

XP_016884772 ⟸ XM_017029283

- Peptide Label:

isoform X1

- Sequence:

show sequence

MARACCACYCASNSAGLLQNQLSQLWVLGLVSITSYHVTNGSQQGEQQLQKVSCFLHPHPAPFT
LKSYKLSFLPDKLQGFLTDWSQFGKGRDISNFADLGLEGSCGLWRASSQLDAVSDWSPMHEAAI
HGHQLSLRNLISQGWAVNIITADHVSPLHEACLGGHLSCVKILLKHGAQVNGVTADWHTPLFNA
CVSGSWDCVNLLLQHGASVQPESDLASPIHEAARRGHVECVNSLIAYGGNIDHKISHLGTPLYL
ACENQQRACVKKLLESGADVNQGKGQDSPLHAVARTASEELACLLMDFGADTQAKNAEGKRPVE
LVPPESPLAQLFLEREGPPSLMQLCRLRIRKCFGIQQHHKITKLVLPEDLKQFLLHL

hide sequence

RefSeq Acc Id:

ENSP00000473542 ⟸ ENST00000477346

RefSeq Acc Id:

ENSP00000438943 ⟸ ENST00000546332

RefSeq Acc Id:

ENSP00000369855 ⟸ ENST00000380488

RefSeq Acc Id:

ENSP00000369852 ⟸ ENST00000380485

RefSeq Acc Id:

ENSP00000369850 ⟸ ENST00000380483

RefSeq Acc Id:	XP_047297798 ⟸ XM_047441842
- Peptide Label:	isoform X3

RefSeq Acc Id:	XP_054182487 ⟸ XM_054326512
- Peptide Label:	isoform X2

RefSeq Acc Id:	XP_054182486 ⟸ XM_054326511
- Peptide Label:	isoform X1

RefSeq Acc Id:	XP_054182488 ⟸ XM_054326513
- Peptide Label:	isoform X3

Protein Domains

SOCS box

Protein Structures

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96DX5-F1-model_v2	AlphaFold	Q96DX5	1-294	view protein structure

Promoters

RGD ID:

6808519

Promoter ID:

HG_KWN:66062

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, Lymphoblastoid

Transcripts:

ENST00000380483, OTTHUMT00000055844, OTTHUMT00000055845, OTTHUMT00000055847, OTTHUMT00000055850, UC004CWN.2, UC010NER.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	15,197,906 - 15,198,406 (-)	MPROMDB

RGD ID:

13604782

Promoter ID:

EPDNEW_H28575

Type:

initiation region

Name:

ASB9_1

Description:

ankyrin repeat and SOCS box containing 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28576

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,270,042 - 15,270,102	EPDNEW

RGD ID:

13604784

Promoter ID:

EPDNEW_H28576

Type:

initiation region

Name:

ASB9_2

Description:

ankyrin repeat and SOCS box containing 9

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H28575

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	15,270,171 - 15,270,231	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:17184	AgrOrtholog
COSMIC	ASB9	COSMIC
Ensembl Genes	ENSG00000102048	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript	ENST00000380483	ENTREZGENE
	ENST00000380483.7	UniProtKB/Swiss-Prot
	ENST00000380485	ENTREZGENE
	ENST00000380485.7	UniProtKB/Swiss-Prot
	ENST00000380488	ENTREZGENE
	ENST00000380488.9	UniProtKB/Swiss-Prot
	ENST00000477346.6	UniProtKB/TrEMBL
	ENST00000546332	ENTREZGENE
	ENST00000546332.1	UniProtKB/Swiss-Prot
Gene3D-CATH	1.25.40.20	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000102048	GTEx
HGNC ID	HGNC:17184	ENTREZGENE
Human Proteome Map	ASB9	Human Proteome Map
InterPro	Ankyrin_rpt	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Ankyrin_rpt-contain_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ASB9/11_SOCS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS_box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS_box-like_dom_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:140462	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene	140462	ENTREZGENE
OMIM	300890	OMIM
PANTHER	ANKYRIN REPEAT AND SOCS BOX PROTEIN 9	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOWAH (DROSOPHILA) HOMOLOG	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Ank	UniProtKB/TrEMBL
	Ank_2	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS_box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA25037	PharmGKB
PROSITE	ANK_REP_REGION	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ANK_REPEAT	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART	ANK	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SOCS_box	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF158235	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	SSF48403	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A0A024RBW7	ENTREZGENE, UniProtKB/TrEMBL
	A8K8A5	ENTREZGENE
	ASB9_HUMAN	UniProtKB/Swiss-Prot
	Q7Z4A2	ENTREZGENE, UniProtKB/TrEMBL
	Q96DX5	ENTREZGENE
	Q9BVF5	ENTREZGENE
	Q9NWS5	ENTREZGENE
	Q9Y4T3	ENTREZGENE
	R4GN94_HUMAN	UniProtKB/TrEMBL
UniProt Secondary	A8K8A5	UniProtKB/Swiss-Prot
	Q9BVF5	UniProtKB/Swiss-Prot
	Q9NWS5	UniProtKB/Swiss-Prot
	Q9Y4T3	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2011-07-27	ASB9	ankyrin repeat and SOCS box containing 9	ASB9	ankyrin repeat and SOCS box-containing 9	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar