FAM50A (family with sequence similarity 50 member A)

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Gene: FAM50A (family with sequence similarity 50 member A) Homo sapiens

Analyze

Symbol:

FAM50A

Name:

family with sequence similarity 50 member A

RGD ID:

1344714

HGNC Page

HGNC

Description:

Exhibits RNA binding activity. Predicted to be involved in chromatin organization. Localizes to nucleoplasm. Implicated in Armfield syndrome.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

9F; DXS9928E; family with sequence similarity 50, member A; HXC-26; HXC26; MRXSA; XAP-5; XAP5

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	154,444,141 - 154,450,654 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	154,444,141 - 154,450,654 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	153,672,488 - 153,679,002 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,325,702 - 153,332,190 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	153,236,211 - 153,242,700	NCBI
Celera	X	153,833,529 - 153,840,045 (+)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,251,559 - 142,256,609 (+)	NCBI		HuRef
CHM1_1	X	153,584,110 - 153,590,638 (+)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

adrenoleukodystrophy (IAGP)

Armfield syndrome (IAGP)

autistic disorder (IAGP)

intellectual disability (IAGP)

severe congenital encephalopathy due to MECP2 mutation (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

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

amphetamine (ISO)

benzo[a]pyrene (EXP,ISO)

bisphenol A (EXP,ISO)

cyclosporin A (EXP)

DDT (ISO)

dibutyl phthalate (ISO)

doxorubicin (EXP)

elemental selenium (EXP)

ethanol (ISO)

ethyl methanesulfonate (EXP)

folic acid (ISO)

formaldehyde (EXP)

hydralazine (EXP)

methyl methanesulfonate (EXP)

paracetamol (EXP)

potassium chromate (EXP)

quercetin (EXP)

quercitrin (EXP)

selenium atom (EXP)

sunitinib (EXP)

tetrachloromethane (ISO)

valproic acid (EXP)

vinclozolin (ISO)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

chromatin organization (IBA)

regulation of RNA splicing (IMP)

spermatogenesis (NAS)

Cellular Component

nucleoplasm (IDA)

nucleus (IBA,IDA,NAS)

Molecular Function

protein binding (IPI)

RNA binding (HDA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal hand morphology (IAGP)

Cataract (IAGP)

Cleft palate (IAGP)

Glaucoma (IAGP)

Intellectual disability (IAGP)

Malar flattening (IAGP)

Midface retrusion (IAGP)

Prominent forehead (IAGP)

Schizophrenia (IAGP)

Seizure (IAGP)

Short foot (IAGP)

Short stature (IAGP)

Small hand (IAGP)

Strabismus (IAGP)

X-linked inheritance (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated


1.	GOA_HUMAN data from the GO Consortium
2.	RGD automated import pipeline for gene-chemical interactions

Additional References at PubMed

PMID:8248200	PMID:8281148	PMID:8733135	PMID:8889548	PMID:9039504	PMID:9339379	PMID:10534398	PMID:11076863	PMID:11256614	PMID:12477932	PMID:15489334	PMID:15489336
PMID:15772651	PMID:16344560	PMID:16381901	PMID:18029348	PMID:19913121	PMID:20628086	PMID:21832049	PMID:21873635	PMID:22658674	PMID:22681889	PMID:22939629	PMID:24957674
PMID:24999758	PMID:25281560	PMID:26344197	PMID:26496610	PMID:27609421	PMID:27926873	PMID:28515276	PMID:28574578	PMID:28700943	PMID:29568061	PMID:30021884	PMID:30022168
PMID:30033366	PMID:30232004	PMID:30652415	PMID:32416067	PMID:32694731	PMID:32703943

Genomics

Comparative Map Data

FAM50A
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	154,444,141 - 154,450,654 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	154,444,141 - 154,450,654 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	153,672,488 - 153,679,002 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	153,325,702 - 153,332,190 (+)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	153,236,211 - 153,242,700	NCBI
Celera	X	153,833,529 - 153,840,045 (+)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	142,251,559 - 142,256,609 (+)	NCBI		HuRef
CHM1_1	X	153,584,110 - 153,590,638 (+)	NCBI		CHM1_1

Fam50a
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	73,356,589 - 73,363,761 (+)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	73,356,639 - 73,363,755 (+)	Ensembl
GRCm38	X	74,313,033 - 74,320,149 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	74,313,033 - 74,320,149 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	71,558,372 - 71,565,488 (+)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	70,565,753 - 70,572,853 (+)	NCBI			mm8
Celera	X	65,566,824 - 65,573,938 (+)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI

Fam50a
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	X	152,095,245 - 152,102,362 (+)	NCBI
Rnor_6.0 Ensembl	X	156,392,630 - 156,399,760 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0 Ensembl	4	104,949,597 - 104,956,714 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	156,392,646 - 156,399,763 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	1	152,132,780 - 152,139,910 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	160,291,003 - 160,298,407	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	1	135,794,289 - 135,801,510 (-)	NCBI		Celera
Cytogenetic Map	X	q37	NCBI

Fam50a
(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_004955580	941,620 - 947,763 (+)	NCBI	ChiLan1.0	ChiLan1.0

FAM50A
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	153,756,766 - 153,763,170 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
Mhudiblu_PPA_v0	X	143,885,931 - 143,892,435 (+)	NCBI	Mhudiblu_PPA_v0		panPan3

FAM50A
(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	122,148,234 - 122,158,172 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	122,148,282 - 122,154,807 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
ROS_Cfam_1.0	X	125,289,397 - 125,300,206 (+)	NCBI
UMICH_Zoey_3.1	X	121,058,418 - 121,069,226 (+)	NCBI
UNSW_CanFamBas_1.0	X	123,573,552 - 123,584,362 (+)	NCBI
UU_Cfam_GSD_1.0	X	123,335,243 - 123,346,053 (+)	NCBI

Fam50a
(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	119,457,705 - 119,464,425 (+)	NCBI
SpeTri2.0	NW_004936809	1,195,479 - 1,202,126 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

FAM50A
(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	124,967,593 - 124,978,290 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	124,967,821 - 124,973,487 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	143,612,016 - 143,686,125 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

FAM50A
(Chlorocebus sabaeus - African green monkey)

No map positions available.

Fam50a
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624946	909,398 - 918,972 (+)	NCBI

Position Markers

SGC34656

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,832 - 153,678,956	UniSTS	GRCh37
Build 36	X	153,332,026 - 153,332,150	RGD	NCBI36
Celera	X	153,839,875 - 153,839,999	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,256,439 - 142,256,563	UniSTS
GeneMap99-GB4 RH Map	X	353.15	UniSTS
Whitehead-RH Map	X	324.7	UniSTS

ECD04850

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,724 - 153,671,476	UniSTS	GRCh37
Build 36	X	153,323,918 - 153,324,670	RGD	NCBI36
Celera	X	153,831,768 - 153,832,520	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,248,373 - 142,249,125	UniSTS

ECD05102

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,504 - 153,678,249	UniSTS	GRCh37
Build 36	X	153,330,698 - 153,331,443	RGD	NCBI36
Celera	X	153,838,547 - 153,839,292	RGD
Cytogenetic Map	X	q28	UniSTS

ECD07086

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,733 - 153,677,424	UniSTS	GRCh37
Build 36	X	153,329,927 - 153,330,618	RGD	NCBI36
Celera	X	153,837,776 - 153,838,467	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,254,305 - 142,254,997	UniSTS

ECD07324

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,574 - 153,672,258	UniSTS	GRCh37
Build 36	X	153,324,768 - 153,325,452	RGD	NCBI36
Celera	X	153,832,618 - 153,833,302	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,223 - 142,249,907	UniSTS

ECD07888

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,347 - 153,679,016	UniSTS	GRCh37
Build 36	X	153,331,541 - 153,332,210	RGD	NCBI36
Celera	X	153,839,390 - 153,840,059	RGD
Cytogenetic Map	X	q28	UniSTS

ECD09271

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,172 - 153,674,805	UniSTS	GRCh37
Build 36	X	153,327,366 - 153,327,999	RGD	NCBI36
Celera	X	153,835,215 - 153,835,848	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,757 - 142,252,390	UniSTS

ECD09353

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,856 - 153,673,487	UniSTS	GRCh37
Build 36	X	153,326,050 - 153,326,681	RGD	NCBI36
Celera	X	153,833,899 - 153,834,530	RGD
Cytogenetic Map	X	q28	UniSTS

ECD09692

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,520 - 153,674,142	UniSTS	GRCh37
Build 36	X	153,326,714 - 153,327,336	RGD	NCBI36
Celera	X	153,834,563 - 153,835,185	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,105 - 142,251,727	UniSTS

ECD09883

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,160 - 153,675,777	UniSTS	GRCh37
Build 36	X	153,328,354 - 153,328,971	RGD	NCBI36
Celera	X	153,836,203 - 153,836,820	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,745 - 142,253,362	UniSTS

ECD23672

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,877 - 153,675,058	UniSTS	GRCh37
Build 36	X	153,328,071 - 153,328,252	RGD	NCBI36
Celera	X	153,835,920 - 153,836,101	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,462 - 142,252,643	UniSTS

ECD23906

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,196 - 153,676,366	UniSTS	GRCh37
Build 36	X	153,329,390 - 153,329,560	RGD	NCBI36
Celera	X	153,837,239 - 153,837,409	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,253,781 - 142,253,951	UniSTS

REN89589

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,547 - 153,670,780	UniSTS	GRCh37
Build 36	X	153,323,741 - 153,323,974	RGD	NCBI36
Celera	X	153,831,591 - 153,831,824	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,248,196 - 142,248,429	UniSTS

REN89590

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,765 - 153,671,020	UniSTS	GRCh37
Build 36	X	153,323,959 - 153,324,214	RGD	NCBI36
Celera	X	153,831,809 - 153,832,064	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,248,414 - 142,248,669	UniSTS

REN89591

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,998 - 153,671,246	UniSTS	GRCh37
Build 36	X	153,324,192 - 153,324,440	RGD	NCBI36
Celera	X	153,832,042 - 153,832,290	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,248,647 - 142,248,895	UniSTS

REN89592

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,223 - 153,671,464	UniSTS	GRCh37
Build 36	X	153,324,417 - 153,324,658	RGD	NCBI36
Celera	X	153,832,267 - 153,832,508	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,248,872 - 142,249,113	UniSTS

REN89593

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,441 - 153,671,668	UniSTS	GRCh37
Build 36	X	153,324,635 - 153,324,862	RGD	NCBI36
Celera	X	153,832,485 - 153,832,712	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,090 - 142,249,317	UniSTS

REN89594

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,633 - 153,671,907	UniSTS	GRCh37
Build 36	X	153,324,827 - 153,325,101	RGD	NCBI36
Celera	X	153,832,677 - 153,832,951	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,282 - 142,249,556	UniSTS

REN89595

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,905 - 153,672,173	UniSTS	GRCh37
Build 36	X	153,325,099 - 153,325,367	RGD	NCBI36
Celera	X	153,832,949 - 153,833,217	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,554 - 142,249,822	UniSTS

REN89596

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,060 - 153,672,285	UniSTS	GRCh37
Build 36	X	153,325,254 - 153,325,479	RGD	NCBI36
Celera	X	153,833,104 - 153,833,329	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,709 - 142,249,934	UniSTS

REN89597

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,231 - 153,672,473	UniSTS	GRCh37
Build 36	X	153,325,425 - 153,325,667	RGD	NCBI36
Celera	X	153,833,275 - 153,833,517	RGD
Cytogenetic Map	X	q28	UniSTS

REN89598

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,578 - 153,672,846	UniSTS	GRCh37
Build 36	X	153,325,772 - 153,326,040	RGD	NCBI36
Celera	X	153,833,621 - 153,833,889	RGD
Cytogenetic Map	X	q28	UniSTS

REN89599

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,631 - 153,672,884	UniSTS	GRCh37
Build 36	X	153,325,825 - 153,326,078	RGD	NCBI36
Celera	X	153,833,674 - 153,833,927	RGD
Cytogenetic Map	X	q28	UniSTS

REN89600

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,672,859 - 153,673,105	UniSTS	GRCh37
Build 36	X	153,326,053 - 153,326,299	RGD	NCBI36
Celera	X	153,833,902 - 153,834,148	RGD
Cytogenetic Map	X	q28	UniSTS

REN89601

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,089 - 153,673,340	UniSTS	GRCh37
Build 36	X	153,326,283 - 153,326,534	RGD	NCBI36
Celera	X	153,834,132 - 153,834,383	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,250,674 - 142,250,925	UniSTS

REN89602

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,316 - 153,673,588	UniSTS	GRCh37
Build 36	X	153,326,510 - 153,326,782	RGD	NCBI36
Celera	X	153,834,359 - 153,834,631	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,250,901 - 142,251,173	UniSTS

REN89603

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,563 - 153,673,798	UniSTS	GRCh37
Build 36	X	153,326,757 - 153,326,992	RGD	NCBI36
Celera	X	153,834,606 - 153,834,841	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,148 - 142,251,383	UniSTS

REN89604

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,774 - 153,674,022	UniSTS	GRCh37
Build 36	X	153,326,968 - 153,327,216	RGD	NCBI36
Celera	X	153,834,817 - 153,835,065	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,359 - 142,251,607	UniSTS

REN89605

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,985 - 153,674,251	UniSTS	GRCh37
Build 36	X	153,327,179 - 153,327,445	RGD	NCBI36
Celera	X	153,835,028 - 153,835,294	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,570 - 142,251,836	UniSTS

REN89606

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,230 - 153,674,480	UniSTS	GRCh37
Build 36	X	153,327,424 - 153,327,674	RGD	NCBI36
Celera	X	153,835,273 - 153,835,523	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,251,815 - 142,252,065	UniSTS

REN89607

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,457 - 153,674,699	UniSTS	GRCh37
Build 36	X	153,327,651 - 153,327,893	RGD	NCBI36
Celera	X	153,835,500 - 153,835,742	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,042 - 142,252,284	UniSTS

REN89608

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,684 - 153,674,914	UniSTS	GRCh37
Build 36	X	153,327,878 - 153,328,108	RGD	NCBI36
Celera	X	153,835,727 - 153,835,957	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,269 - 142,252,499	UniSTS

REN89609

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,881 - 153,675,133	UniSTS	GRCh37
Build 36	X	153,328,075 - 153,328,327	RGD	NCBI36
Celera	X	153,835,924 - 153,836,176	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,466 - 142,252,718	UniSTS

REN89610

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,080 - 153,675,327	UniSTS	GRCh37
Build 36	X	153,328,274 - 153,328,521	RGD	NCBI36
Celera	X	153,836,123 - 153,836,370	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,665 - 142,252,912	UniSTS

REN89611

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,277 - 153,675,531	UniSTS	GRCh37
Build 36	X	153,328,471 - 153,328,725	RGD	NCBI36
Celera	X	153,836,320 - 153,836,574	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,252,862 - 142,253,116	UniSTS

REN89612

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,484 - 153,675,735	UniSTS	GRCh37
Build 36	X	153,328,678 - 153,328,929	RGD	NCBI36
Celera	X	153,836,527 - 153,836,778	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,253,069 - 142,253,320	UniSTS

REN89613

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,716 - 153,675,978	UniSTS	GRCh37
Build 36	X	153,328,910 - 153,329,172	RGD	NCBI36
Celera	X	153,836,759 - 153,837,021	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,253,301 - 142,253,563	UniSTS

REN89614

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,675,951 - 153,676,200	UniSTS	GRCh37
Build 36	X	153,329,145 - 153,329,394	RGD	NCBI36
Celera	X	153,836,994 - 153,837,243	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,253,536 - 142,253,785	UniSTS

REN89615

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,114 - 153,676,365	UniSTS	GRCh37
Build 36	X	153,329,308 - 153,329,559	RGD	NCBI36
Celera	X	153,837,157 - 153,837,408	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,253,699 - 142,253,950	UniSTS

REN89616

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,341 - 153,676,573	UniSTS	GRCh37
Build 36	X	153,329,535 - 153,329,767	RGD	NCBI36
Celera	X	153,837,384 - 153,837,616	RGD
Cytogenetic Map	X	q28	UniSTS

REN89617

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,463 - 153,676,708	UniSTS	GRCh37
Build 36	X	153,329,657 - 153,329,902	RGD	NCBI36
Celera	X	153,837,506 - 153,837,751	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,254,048 - 142,254,280	UniSTS

REN89618

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,674 - 153,676,914	UniSTS	GRCh37
Build 36	X	153,329,868 - 153,330,108	RGD	NCBI36
Celera	X	153,837,717 - 153,837,957	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,254,246 - 142,254,486	UniSTS

REN89619

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,894 - 153,677,121	UniSTS	GRCh37
Build 36	X	153,330,088 - 153,330,315	RGD	NCBI36
Celera	X	153,837,937 - 153,838,164	RGD
Cytogenetic Map	X	q28	UniSTS

REN89620

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,104 - 153,677,371	UniSTS	GRCh37
Build 36	X	153,330,298 - 153,330,565	RGD	NCBI36
Celera	X	153,838,147 - 153,838,414	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,254,677 - 142,254,944	UniSTS

REN89621

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,364 - 153,677,588	UniSTS	GRCh37
Build 36	X	153,330,558 - 153,330,782	RGD	NCBI36
Celera	X	153,838,407 - 153,838,631	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,254,937 - 142,255,161	UniSTS

REN89622

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,580 - 153,677,831	UniSTS	GRCh37
Build 36	X	153,330,774 - 153,331,025	RGD	NCBI36
Celera	X	153,838,623 - 153,838,874	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,255,153 - 142,255,404	UniSTS

REN89623

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,808 - 153,678,062	UniSTS	GRCh37
Build 36	X	153,331,002 - 153,331,256	RGD	NCBI36
Celera	X	153,838,851 - 153,839,105	RGD
Cytogenetic Map	X	q28	UniSTS

REN89624

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,045 - 153,678,290	UniSTS	GRCh37
Build 36	X	153,331,239 - 153,331,484	RGD	NCBI36
Celera	X	153,839,088 - 153,839,333	RGD
Cytogenetic Map	X	q28	UniSTS

REN89625

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,244 - 153,678,512	UniSTS	GRCh37
Build 36	X	153,331,438 - 153,331,706	RGD	NCBI36
Celera	X	153,839,287 - 153,839,555	RGD
Cytogenetic Map	X	q28	UniSTS

REN89626

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,491 - 153,678,758	UniSTS	GRCh37
Build 36	X	153,331,685 - 153,331,952	RGD	NCBI36
Celera	X	153,839,534 - 153,839,801	RGD

REN89627

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,751 - 153,678,976	UniSTS	GRCh37
Build 36	X	153,331,945 - 153,332,170	RGD	NCBI36
Celera	X	153,839,794 - 153,840,019	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,256,358 - 142,256,583	UniSTS

REN89628

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,678,953 - 153,679,205	UniSTS	GRCh37
Build 36	X	153,332,147 - 153,332,399	RGD	NCBI36
Celera	X	153,839,996 - 153,840,248	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,256,560 - 142,256,812	UniSTS

REN89629

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,679,198 - 153,679,454	UniSTS	GRCh37
Build 36	X	153,332,392 - 153,332,648	RGD	NCBI36
Celera	X	153,840,241 - 153,840,497	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,256,805 - 142,257,061	UniSTS

stSG604053

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,971 - 153,671,974	UniSTS	GRCh37
Build 36	X	153,324,165 - 153,325,168	RGD	NCBI36
Celera	X	153,832,015 - 153,833,018	RGD
HuRef	X	142,248,620 - 142,249,623	UniSTS

stSG604055

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,404 - 153,673,682	UniSTS	GRCh37
Build 36	X	153,326,598 - 153,326,876	RGD	NCBI36
Celera	X	153,834,447 - 153,834,725	RGD
HuRef	X	142,250,989 - 142,251,267	UniSTS

stSG604056

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,673,716 - 153,674,909	UniSTS	GRCh37
Build 36	X	153,326,910 - 153,328,103	RGD	NCBI36
Celera	X	153,834,759 - 153,835,952	RGD
HuRef	X	142,251,301 - 142,252,494	UniSTS

stSG604057

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,674,890 - 153,676,345	UniSTS	GRCh37
Build 36	X	153,328,084 - 153,329,539	RGD	NCBI36
Celera	X	153,835,933 - 153,837,388	RGD
HuRef	X	142,252,475 - 142,253,930	UniSTS

stSG604058

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,676,345 - 153,677,523	UniSTS	GRCh37
Build 36	X	153,329,539 - 153,330,717	RGD	NCBI36
Celera	X	153,837,388 - 153,838,566	RGD
HuRef	X	142,253,930 - 142,255,096	UniSTS

stSG604059

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,677,505 - 153,678,659	UniSTS	GRCh37
Build 36	X	153,330,699 - 153,331,853	RGD	NCBI36
Celera	X	153,838,548 - 153,839,702	RGD

GDI1__6799

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,175 - 153,671,983	UniSTS	GRCh37
Build 36	X	153,324,369 - 153,325,177	RGD	NCBI36
Celera	X	153,832,219 - 153,833,027	RGD
HuRef	X	142,248,824 - 142,249,632	UniSTS

RH77733

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,671,663 - 153,671,806	UniSTS	GRCh37
Build 36	X	153,324,857 - 153,325,000	RGD	NCBI36
Celera	X	153,832,707 - 153,832,850	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,249,312 - 142,249,455	UniSTS
GeneMap99-GB4 RH Map	X	350.95	UniSTS

GDI1

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	153,670,900 - 153,670,995	UniSTS	GRCh37
Build 36	X	153,324,094 - 153,324,189	RGD	NCBI36
Celera	X	153,831,944 - 153,832,039	RGD
HuRef	X	142,248,549 - 142,248,644	UniSTS

DXS9771

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q28	UniSTS
HuRef	X	142,256,440 - 142,256,585	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	2463
Count of miRNA genes:	892
Interacting mature miRNAs:	1090
Transcripts:	ENST00000158526, ENST00000393600, ENST00000464419, ENST00000478509, ENST00000481619, ENST00000490480, ENST00000494278
Prediction methods:	Microtar, Miranda, Pita, Pita,Targetscan, Rnahybrid, Targetscan
Result types:	miRGate_prediction

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

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

Expression

RNA-SEQ Expression

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

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2436

2965

1722

620

1929

461

4354

2183

3726

419

1458

1613

175

1204

2788

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_013233	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_004699	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC244090	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AD001530	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK293119	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313697	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL365368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU143518	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC000028	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015499	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ018378	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BU679052	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX936365	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR992165	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D83260	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D83389	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574110	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L44140	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X74611	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X87199	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000158526 ⟹ ENSP00000158526

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,444,459 - 154,450,099 (+)	Ensembl

RefSeq Acc Id:

ENST00000393600 ⟹ ENSP00000377225

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,444,141 - 154,450,654 (+)	Ensembl

RefSeq Acc Id:

ENST00000464419

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,444,155 - 154,450,654 (+)	Ensembl

RefSeq Acc Id:

ENST00000478509

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,446,266 - 154,449,135 (+)	Ensembl

RefSeq Acc Id:

ENST00000481619

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,444,248 - 154,449,081 (+)	Ensembl

RefSeq Acc Id:

ENST00000490480

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,445,443 - 154,445,882 (+)	Ensembl

RefSeq Acc Id:

ENST00000494278

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	154,449,887 - 154,450,289 (+)	Ensembl

RefSeq Acc Id:

NM_004699 ⟹ NP_004690

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	154,444,141 - 154,450,654 (+)	NCBI
GRCh37	X	153,672,473 - 153,679,002 (+)	NCBI
Build 36	X	153,325,702 - 153,332,190 (+)	NCBI Archive
Celera	X	153,833,529 - 153,840,045 (+)	RGD
HuRef	X	142,251,559 - 142,256,609 (+)	ENTREZGENE
CHM1_1	X	153,584,110 - 153,590,638 (+)	NCBI

Sequence:

show sequence

CACGGCGCGGGCGTCAGCTGACTGTTCGGCCGCCACCGCCGCTGCCGCTGCCGCTGTCGCTGTC
GCCGCCGCCGCCGCCCGCCGCCGCCGCCGCCGCCGCCGCCGCTGCCATGGCTCAATACAAGGGC
GCCGCGAGCGAGGCCGGCCGCGCCATGCACCTGATGAAGAAGCGGGAGAAGCAGCGCGAGCAGA
TGGAGCAGATGAAGCAGCGCATCGCGGAGGAGAACATCATGAAATCCAACATTGACAAGAAGTT
CTCTGCGCACTACGACGCGGTGGAGGCAGAGCTCAAGTCCAGCACCGTGGGTCTCGTGACCCTG
AATGACATGAAGGCCAAGCAGGAGGCTCTGGTGAAGGAGCGGGAGAAGCAGCTGGCCAAGAAGG
AGCAGTCCAAGGAGCTGCAGATGAAGCTGGAGAAGCTTCGAGAGAAGGAGCGTAAGAAGGAAGC
CAAGCGGAAGATCTCCAGCCTGTCCTTCACCCTGGAGGAGGAAGAAGAGGGAGGCGAGGAGGAA
GAGGAGGCGGCCATGTATGAGGAGGAGATGGAAAGGGAAGAGATCACCACGAAGAAGAGAAAAC
TGGGGAAGAACCCAGACGTTGACACAAGCTTCTTGCCTGATCGAGACCGTGAGGAGGAGGAGAA
TCGGCTTCGGGAAGAGCTGCGGCAGGAGTGGGAAGCCAAGCAGGAGAAGATCAAGAGTGAGGAG
ATCGAGATCACCTTCAGCTACTGGGATGGCTCTGGGCACCGGCGGACAGTCAAGATGAGAAAGG
GCAACACCATGCAGCAGTTCCTGCAGAAGGCGCTCGAGATCCTTCGGAAAGACTTCAGTGAGCT
GAGGTCCGCAGGGGTGGAGCAGCTCATGTACATCAAGGAGGACTTGATCATCCCTCACCATCAC
AGCTTCTACGACTTCATCGTCACCAAGGCACGGGGGAAGAGTGGACCACTCTTCAACTTTGATG
TTCATGACGATGTGCGGTTGCTCAGTGACGCCACTGTGGAGAAGGATGAGTCCCATGCAGGCAA
GGTGGTGCTGAGGAGCTGGTACGAGAAGAACAAGCACATCTTTCCCGCCAGCCGCTGGGAACCC
TACGACCCTGAAAAGAAGTGGGACAAGTACACGATCCGCTGAGCATCCAGGAGGCTGCGCGGCC
CCGGCTCCTCAGCTCCCTCAGTGTGCCCCGTGGTGTCACCGGGACTCCAGGCACCCGCTCCCCT
GCGACCATGCCAGGCACGCTGGGAGGAGGACGGCAGCTGCTCGTGTCCTGCCCCTGCCACATCA
GTGACTGCTTTATTCTTTTCCAATAAAGAAGTGCACGTGTCAGAGCTGGAGCGCCTGCATTGTG
AGAAACCAAAAAAAAAAAAAAAAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_004690	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA92649	(Get FASTA)	NCBI Sequence Viewer
	AAB81663	(Get FASTA)	NCBI Sequence Viewer
	AAH00028	(Get FASTA)	NCBI Sequence Viewer
	AAH15499	(Get FASTA)	NCBI Sequence Viewer
	BAA11871	(Get FASTA)	NCBI Sequence Viewer
	BAA11907	(Get FASTA)	NCBI Sequence Viewer
	BAF85808	(Get FASTA)	NCBI Sequence Viewer
	BAG36444	(Get FASTA)	NCBI Sequence Viewer
	CBX47544	(Get FASTA)	NCBI Sequence Viewer
	EAW72704	(Get FASTA)	NCBI Sequence Viewer
	EAW72705	(Get FASTA)	NCBI Sequence Viewer
	EAW72706	(Get FASTA)	NCBI Sequence Viewer
	EAW72707	(Get FASTA)	NCBI Sequence Viewer
	EAW72708	(Get FASTA)	NCBI Sequence Viewer
	Q14320	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_004690 ⟸ NM_004699

- UniProtKB:

Q14320 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAQYKGAASEAGRAMHLMKKREKQREQMEQMKQRIAEENIMKSNIDKKFSAHYDAVEAELKSST
VGLVTLNDMKAKQEALVKEREKQLAKKEQSKELQMKLEKLREKERKKEAKRKISSLSFTLEEEE
EGGEEEEEAAMYEEEMEREEITTKKRKLGKNPDVDTSFLPDRDREEEENRLREELRQEWEAKQE
KIKSEEIEITFSYWDGSGHRRTVKMRKGNTMQQFLQKALEILRKDFSELRSAGVEQLMYIKEDL
IIPHHHSFYDFIVTKARGKSGPLFNFDVHDDVRLLSDATVEKDESHAGKVVLRSWYEKNKHIFP
ASRWEPYDPEKKWDKYTIR

hide sequence

RefSeq Acc Id:

ENSP00000377225 ⟸ ENST00000393600

RefSeq Acc Id:

ENSP00000158526 ⟸ ENST00000158526

Promoters

RGD ID:

6808825

Promoter ID:

HG_KWN:68655

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000081643, OTTHUMT00000081644, OTTHUMT00000081647, OTTHUMT00000316579

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,325,046 - 153,326,217 (+)	MPROMDB

RGD ID:

6808828

Promoter ID:

HG_KWN:68656

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, Lymphoblastoid

Transcripts:

OTTHUMT00000081645

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,326,661 - 153,327,162 (+)	MPROMDB

RGD ID:

6808829

Promoter ID:

HG_KWN:68657

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid

Transcripts:

OTTHUMT00000081646

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	153,327,551 - 153,328,212 (+)	MPROMDB

RGD ID:

13628628

Promoter ID:

EPDNEW_H29552

Type:

initiation region

Name:

FAM50A_1

Description:

family with sequence similarity 50 member A

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	154,444,141 - 154,444,201	EPDNEW

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
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)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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)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:10679-156022206)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)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 Xq28(chrX:153296806-155699618)x1	copy number loss	See cases [RCV000051750]	ChrX:153296806..155699618 [GRCh38] ChrX:152568327..154929279 [GRCh37] ChrX:152215458..154582473 [NCBI36] ChrX:Xq28	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 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 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 Xq25-28(chrX:126537861-155996431)x1	copy number loss	See cases [RCV000051729]	ChrX:126537861..155996431 [GRCh38] ChrX:125671844..155226096 [GRCh37] ChrX:125499525..154879290 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xq22.1-28(chrX:100524562-155669954)x1	copy number loss	See cases [RCV000051713]	ChrX:100524562..155669954 [GRCh38] ChrX:99779559..154785891 [GRCh37] ChrX:99666215..154552809 [NCBI36] ChrX:Xq22.1-28	pathogenic
GRCh38/hg38 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 Xq28(chrX:154394598-154554969)x1	copy number loss	See cases [RCV000051760]	ChrX:154394598..154554969 [GRCh38] ChrX:153622940..153783184 [GRCh37] ChrX:153276134..153436378 [NCBI36] ChrX:Xq28	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: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 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 Xq28(chrX:153932045-155611794)x3	copy number gain	See cases [RCV000052529]	ChrX:153932045..155611794 [GRCh38] ChrX:152850692..154494649 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:152932818-156022206)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052490]\|See cases [RCV000052490]	ChrX:152932818..156022206 [GRCh38] ChrX:152173071..155251871 [GRCh37] ChrX:151852018..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	copy number gain	See cases [RCV000052491]	ChrX:153395425..155687381 [GRCh38] ChrX:152314077..154570236 [NCBI36] ChrX:Xq28	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
GRCh38/hg38 Xq28(chrX:154336596-154642063)x2	copy number gain	See cases [RCV000054320]	ChrX:154336596..154642063 [GRCh38] ChrX:153564946..153870337 [GRCh37] ChrX:153218140..153523531 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq28(chrX:154348522-154594454)x2	copy number gain	See cases [RCV000054321]	ChrX:154348522..154594454 [GRCh38] ChrX:153576890..153822717 [GRCh37] ChrX:153230084..153475911 [NCBI36] ChrX:Xq28	uncertain significance
GRCh38/hg38 Xq28(chrX:154394598-154626056)x2	copy number gain	See cases [RCV000054322]	ChrX:154394598..154626056 [GRCh38] ChrX:153622940..153854307 [GRCh37] ChrX:153276134..153507501 [NCBI36] ChrX:Xq28	uncertain significance
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:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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: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 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 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 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 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 Xq28(chrX:153296806-154604471)x2	copy number gain	See cases [RCV000135451]	ChrX:153296806..154604471 [GRCh38] ChrX:152568327..153832724 [GRCh37] ChrX:152215458..153485918 [NCBI36] ChrX:Xq28	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 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 Xq25-28(chrX:128473235-156003229)x1	copy number loss	See cases [RCV000136095]	ChrX:128473235..156003229 [GRCh38] ChrX:127607213..155232894 [GRCh37] ChrX:127434894..154886088 [NCBI36] ChrX:Xq25-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 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 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 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 Xq28(chrX:153322656-155522304)x2	copy number gain	See cases [RCV000136716]	ChrX:153322656..155522304 [GRCh38] ChrX:152864376..154751965 [GRCh37] ChrX:152241308..154405159 [NCBI36] ChrX:Xq28	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:151750863-155522304)x1	copy number loss	See cases [RCV000136718]	ChrX:151750863..155522304 [GRCh38] ChrX:150919335..154751965 [GRCh37] ChrX:150669991..154405159 [NCBI36] ChrX:Xq28	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 Xq28(chrX:153276277-156003242)x3	copy number gain	See cases [RCV000137498]	ChrX:153276277..156003242 [GRCh38] ChrX:152465185..155232907 [GRCh37] ChrX:152118379..154886101 [NCBI36] ChrX:Xq28	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 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 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 Xq28(chrX:153727116-154555423)x2	copy number gain	See cases [RCV000138393]	ChrX:153727116..154555423 [GRCh38] ChrX:153333946..153783638 [GRCh37] ChrX:152645765..153436832 [NCBI36] ChrX:Xq28	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 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 Xq21.1-28(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 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 Xq28(chrX:154348522-154770053)x2	copy number gain	See cases [RCV000140492]	ChrX:154348522..154770053 [GRCh38] ChrX:153576890..153998328 [GRCh37] ChrX:153230084..153651522 [NCBI36] ChrX:Xq28	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 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	copy number gain	See cases [RCV000240046]	ChrX:153627408..154089925 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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: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 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:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [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 Xq28(chrX:152228560-154930047)x2	copy number gain	See cases [RCV000447331]	ChrX:152228560..154930047 [GRCh37] ChrX:Xq28	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: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 Xq28(chrX:151201777-154741703)x2	copy number gain	See cases [RCV000510478]	ChrX:151201777..154741703 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153097608-153681801)x2	copy number gain	See cases [RCV000510362]	ChrX:153097608..153681801 [GRCh37] ChrX:Xq28	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
GRCh37/hg19 Xq23-28(chrX:112474054-155233731)x1	copy number loss	See cases [RCV000511572]	ChrX:112474054..155233731 [GRCh37] ChrX:Xq23-28	pathogenic
GRCh37/hg19 Xq24-28(chrX:116621104-155233731)x1	copy number loss	See cases [RCV000511936]	ChrX:116621104..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	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 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:151963528-155233731)x1	copy number loss	See cases [RCV000510866]	ChrX:151963528..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:151311551-155233731)x1	copy number loss	See cases [RCV000510920]	ChrX:151311551..155233731 [GRCh37] ChrX:Xq28	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
NC_000023.10:g.(?_153295726)_(153786885_?)dup	duplication	Severe neonatal-onset encephalopathy with microcephaly [RCV000645139]	ChrX:153295726..153786885 [GRCh37] ChrX:Xq28	pathogenic
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 Xq28(chrX:153576750-154563104)x1	copy number loss	See cases [RCV000663390]	ChrX:153576750..154563104 [GRCh37] ChrX:Xq28	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 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 Xq28(chrX:153581543-153858492)x2	copy number gain	not provided [RCV000684413]	ChrX:153581543..153858492 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153621005-153868484)x4	copy number gain	not provided [RCV000684414]	ChrX:153621005..153868484 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq28(chrX:153560741-153761134)x2	copy number gain	not provided [RCV000684744]	ChrX:153560741..153761134 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:153560741-153858492)x2,3	copy number gain	not provided [RCV000684745]	ChrX:153560741..153858492 [GRCh37] ChrX:Xq28	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 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-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:153675171-153692561)x3	copy number gain	not provided [RCV000753937]	ChrX:153675171..153692561 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:153675171-153692834)x3	copy number gain	not provided [RCV000753938]	ChrX:153675171..153692834 [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 Xq28(chrX:153675171-153717512)x3	copy number gain	not provided [RCV000753939]	ChrX:153675171..153717512 [GRCh37] ChrX:Xq28	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 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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] 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 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:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	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
NM_004699.4(FAM50A):c.879C>T (p.Asp293=)	single nucleotide variant	not provided [RCV000906968]	ChrX:154450078 [GRCh38] ChrX:153678426 [GRCh37] ChrX:Xq28	benign
NC_000023.10:g.(?_152954020)_(154096327_?)del	deletion	Adrenoleukodystrophy [RCV000815921]	ChrX:152954020..154096327 [GRCh37] ChrX:Xq28	pathogenic
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly)	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254882]\|Intellectual disability [RCV001093615]		pathogenic\|likely 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 Xq28(chrX:153566612-153731506)x2	copy number gain	not provided [RCV000847027]	ChrX:153566612..153731506 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:153556428-153868487)x2	copy number gain	not provided [RCV000845970]	ChrX:153556428..153868487 [GRCh37] ChrX:Xq28	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 Xq28(chrX:153609873-153815499)x3	copy number gain	not provided [RCV000847592]	ChrX:153609873..153815499 [GRCh37] ChrX:Xq28	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 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
NM_004699.4(FAM50A):c.763G>A (p.Asp255Asn)	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254886]\|not provided [RCV001093616]		pathogenic\|likely pathogenic
NM_004699.4(FAM50A):c.761A>G (p.Glu254Gly)	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254884]\|not provided [RCV001093617]		pathogenic\|likely pathogenic
NM_004699.4(FAM50A):c.616T>G (p.Trp206Gly)	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254883]\|not provided [RCV001093618]		pathogenic\|uncertain significance
NM_004699.4(FAM50A):c.817C>T (p.Arg273Trp)	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254885]\|not provided [RCV001093619]		pathogenic\|uncertain significance
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
NM_004699.4:c.763G>A	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254886]		pathogenic
NM_004699.4:c.764A>G	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254882]		pathogenic
NM_004699.4:c.616T>G	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254883]		pathogenic
NM_004699.4:c.817C>T	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254885]		pathogenic
NM_004699.4:c.761A>G	single nucleotide variant	Armfield X-linked mental retardation syndrome [RCV001254884]		pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94264404-155233731)x1	copy number loss	not provided [RCV001259012]	ChrX:94264404..155233731 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3	copy number gain	See cases [RCV001263024]	ChrX:55507789..155198481 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:18786	AgrOrtholog
COSMIC	FAM50A	COSMIC
Ensembl Genes	ENSG00000071859	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000158526	UniProtKB/TrEMBL
	ENSP00000377225	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000158526	UniProtKB/TrEMBL
	ENST00000393600	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000071859	GTEx
HGNC ID	HGNC:18786	ENTREZGENE
Human Proteome Map	FAM50A	Human Proteome Map
InterPro	XAP5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:9130	UniProtKB/Swiss-Prot
NCBI Gene	9130	ENTREZGENE
OMIM	300261	OMIM
	300453	OMIM
PANTHER	PTHR12722	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	XAP5	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA134984709	PharmGKB
UniProt	B0S8I6_HUMAN	UniProtKB/TrEMBL
	FA50A_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A8KAQ4	UniProtKB/Swiss-Prot
	B2R997	UniProtKB/Swiss-Prot
	Q5HY37	UniProtKB/Swiss-Prot
	Q6PJH5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2015-11-24	FAM50A	family with sequence similarity 50 member A		family with sequence similarity 50, member A	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 Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM