BCAP31 (B cell receptor associated protein 31)

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Gene: BCAP31 (B cell receptor associated protein 31) Homo sapiens

Analyze

Symbol:

BCAP31

Name:

B cell receptor associated protein 31

RGD ID:

1349319

HGNC Page

HGNC

Description:

Predicted to have MHC class I protein binding activity. Involved in several processes, including calcium-mediated signaling using intracellular calcium source; cellular calcium ion homeostasis; and positive regulation of proteolysis. Localizes to several cellular components, including lipid droplet; mitochondria-associated endoplasmic reticulum membrane; and perinuclear endoplasmic reticulum. Implicated in deafness, dystonia, and cerebral hypomyelination and sensorineural hearing loss.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

6C6-AG; 6C6-AG tumor-associated antigen; B-cell receptor associated protein 31; B-cell receptor-associated protein 31; BAP31; BCR-associated protein Bap31; CDM; DDCH; DXS1357E; p28 Bap31

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Bcap31 (B cell receptor associated protein 31)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Bcap31 (B-cell receptor-associated protein 31)	HGNC	Ensembl, HomoloGene, Inparanoid, NCBI, Panther
Chinchilla lanigera (long-tailed chinchilla):	Bcap31 (B cell receptor associated protein 31)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	BCAP31 (B cell receptor associated protein 31)	NCBI	Ortholog
Canis lupus familiaris (dog):	BCAP31 (B cell receptor associated protein 31)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Bcap31 (B cell receptor associated protein 31)	NCBI	Ortholog
Sus scrofa (pig):	BCAP31 (B cell receptor associated protein 31)	HGNC	EggNOG, Ensembl, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (African green monkey):	BCAP31 (B cell receptor associated protein 31)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Bcap31 (B cell receptor associated protein 31)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Bcap31 (B-cell receptor-associated protein 31)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB)
Mus musculus (house mouse):	Bcap31 (B cell receptor associated protein 31)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Danio rerio (zebrafish):	bcap31 (B cell receptor associated protein 31)	Alliance	DIOPT (TreeFam\|ZFIN)
Drosophila melanogaster (fruit fly):	CG13887	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup\|TreeFam)
Caenorhabditis elegans (roundworm):	Y54G2A.18	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)
Saccharomyces cerevisiae (baker's yeast):	YET1	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|OrthoFinder\|PANTHER\|PhylomeDB\|Roundup)
Saccharomyces cerevisiae (baker's yeast):	YET2	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|PANTHER\|PhylomeDB)
Saccharomyces cerevisiae (baker's yeast):	YET3	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|Roundup)

Related Pseudogenes:

BCAP31P1 BCAP31P2

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	153,700,492 - 153,724,565 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	153,700,492 - 153,724,746 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	152,965,947 - 152,989,842 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	152,619,146 - 152,643,081 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	152,486,798 - 152,510,734	NCBI
Celera	X	153,199,631 - 153,223,882 (-)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	141,623,032 - 141,647,457 (-)	NCBI		HuRef
CHM1_1	X	152,840,359 - 152,864,610 (-)	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)

autistic disorder (IAGP)

creatine transporter deficiency (IAGP)

deafness, dystonia, and cerebral hypomyelination (IAGP)

Developmental Disabilities (IAGP)

genetic disease (IAGP)

microcephaly (IAGP)

Moyamoya Disease 4 with Short Stature, Hypergonadotropic Hypogonadism, and Facial Dysmorphism (IAGP)

sensorineural hearing loss (IAGP)

severe congenital encephalopathy due to MECP2 mutation (IAGP)

syndromic X-linked intellectual disability Lubs type (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1,2-dimethylhydrazine (ISO)

17beta-estradiol (ISO)

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

3,4-methylenedioxymethamphetamine (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

4-hydroxyphenyl retinamide (ISO)

aconitine (ISO)

acrylamide (EXP,ISO)

aminoglutethimide (EXP)

benzo[a]pyrene (EXP,ISO)

benzo[e]pyrene (EXP)

bisphenol A (EXP,ISO)

bisphenol F (EXP)

cisplatin (EXP)

cocaine (ISO)

crocidolite asbestos (ISO)

dexamethasone (EXP)

diazinon (EXP)

doxorubicin (EXP)

endosulfan (ISO)

ethanol (ISO)

finasteride (ISO)

flutamide (ISO)

folic acid (ISO)

indometacin (EXP)

isotretinoin (EXP)

lead(0) (EXP)

lead(2+) (EXP)

methapyrilene (EXP)

N-ethyl-N-nitrosourea (ISO)

N-methyl-4-phenylpyridinium (ISO)

resveratrol (EXP)

Soman (ISO)

sunitinib (EXP)

valproic acid (EXP,ISO)

vitamin E (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

antigen processing and presentation of peptide antigen via MHC class I (TAS)

apoptotic process (IEA)

calcium-mediated signaling using intracellular calcium source (IMP)

endoplasmic reticulum to Golgi vesicle-mediated transport (IBA,IEA,ISO)

immune response (ISO)

intracellular protein transport (IEA)

negative regulation of endoplasmic reticulum calcium ion concentration (IMP)

positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (IMP)

positive regulation of cytosolic calcium ion concentration (IMP)

positive regulation of ER-associated ubiquitin-dependent protein catabolic process (IGI)

positive regulation of intrinsic apoptotic signaling pathway (IMP)

positive regulation of mitochondrial calcium ion concentration (IMP)

positive regulation of retrograde protein transport, ER to cytosol (IDA)

protein localization to endoplasmic reticulum exit site (IBA,IEA,ISO)

protein targeting to mitochondrion (IGI)

response to endoplasmic reticulum stress (IDA)

spermatogenesis (IEA,ISO)

viral process (IEA)

Cellular Component

clathrin-coated vesicle (IEA,ISO)

cytosol (TAS)

endoplasmic reticulum (IDA)

endoplasmic reticulum membrane (IBA,IEA,ISO,TAS)

endoplasmic reticulum-Golgi intermediate compartment membrane (IEA)

Golgi cisterna membrane (IEA,ISO)

Golgi membrane (ISO)

integral component of lumenal side of endoplasmic reticulum membrane (TAS)

integral component of membrane (IEA)

integral component of plasma membrane (IDA)

lipid droplet (IDA)

membrane (HDA)

mitochondria-associated endoplasmic reticulum membrane (IDA)

mitochondrion (IEA)

perinuclear endoplasmic reticulum (IDA)

plasma membrane (ISO)

Molecular Function

MHC class I protein binding (IEA)

protein binding (IPI,ISO)

protein-containing complex binding (IEA)

Molecular Pathway Annotations Click to see Annotation Detail View

Endoplasmic Reticulum-associated degradation pathway (IEA)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormal facial shape (IAGP)

Abnormal pyramidal sign (IAGP)

Aggressive behavior (IAGP)

Cerebellar atrophy (IAGP)

Cerebral atrophy (IAGP)

Cerebral cortical atrophy (IAGP)

Cerebral hypomyelination (IAGP)

Corpus callosum atrophy (IAGP)

Dystonia (IAGP)

Failure to thrive (IAGP)

Global developmental delay (IAGP)

Hearing impairment (IAGP)

Hyperactivity (IAGP)

Intellectual disability, severe (IAGP)

Intrauterine growth retardation (IAGP)

Microcephaly (IAGP)

Optic atrophy (IAGP)

Recurrent fever (IAGP)

Schizophrenia (IAGP)

Seizure (IAGP)

Sensorineural hearing impairment (IAGP)

Strabismus (IAGP)

Tetraplegia (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated


1.	Cacciagli P, etal., Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.
2.	GOA_HUMAN data from the GO Consortium
3.	OMIM Disease Annotation Pipeline
4.	Pipeline to import KEGG annotations from KEGG into RGD
5.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6.	RGD automated import pipeline for gene-chemical interactions
7.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:7806238	PMID:8125298	PMID:8612576	PMID:8706661	PMID:9334338	PMID:9396746	PMID:9804161	PMID:10958671	PMID:11042173	PMID:11076863	PMID:11163199	PMID:11561007
PMID:11851433	PMID:11917123	PMID:11992258	PMID:12477932	PMID:12529377	PMID:12594175	PMID:12605685	PMID:12668660	PMID:12886015	PMID:14502241	PMID:14702039	PMID:14741744
PMID:15024066	PMID:15161933	PMID:15254227	PMID:15294914	PMID:15489334	PMID:15489336	PMID:15772651	PMID:15933766	PMID:16344560	PMID:16381901	PMID:16858427	PMID:17003517
PMID:17056546	PMID:17255364	PMID:17401199	PMID:17500595	PMID:17558393	PMID:18029348	PMID:18287538	PMID:18555783	PMID:18684816	PMID:19165151	PMID:19221507	PMID:19342655
PMID:19401338	PMID:19519245	PMID:19946888	PMID:20360068	PMID:21081644	PMID:21103663	PMID:21151997	PMID:21183955	PMID:21285974	PMID:21527846	PMID:21873635	PMID:21947079
PMID:21988832	PMID:22056873	PMID:22182703	PMID:22190034	PMID:22304920	PMID:22658674	PMID:23246001	PMID:23284715	PMID:24332808	PMID:24395279	PMID:24454821	PMID:24597975
PMID:24898727	PMID:25044748	PMID:25416956	PMID:25437307	PMID:25854864	PMID:25921289	PMID:25959826	PMID:25980696	PMID:26102500	PMID:26212606	PMID:26344197	PMID:26496610
PMID:26638075	PMID:26760575	PMID:26972000	PMID:27342126	PMID:27684187	PMID:27770627	PMID:28298427	PMID:28332767	PMID:28514442	PMID:28685749	PMID:28931009	PMID:29145450
PMID:29180619	PMID:29395067	PMID:29507755	PMID:29568061	PMID:29653744	PMID:29911972	PMID:30021884	PMID:30022068	PMID:30194290	PMID:30338855	PMID:30455355	PMID:30503502
PMID:30575818	PMID:30639242	PMID:30948266	PMID:31024071	PMID:31056421	PMID:31073040	PMID:31177093	PMID:31206022	PMID:31300519	PMID:31436131	PMID:31478661	PMID:31536960
PMID:31588230	PMID:31671609	PMID:31980649	PMID:31995728	PMID:32129710	PMID:32132574	PMID:32296183	PMID:32788342	PMID:32814053	PMID:32877691

Genomics

Comparative Map Data

BCAP31
(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	153,700,492 - 153,724,565 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	153,700,492 - 153,724,746 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	152,965,947 - 152,989,842 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	152,619,146 - 152,643,081 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	152,486,798 - 152,510,734	NCBI
Celera	X	153,199,631 - 153,223,882 (-)	NCBI
Cytogenetic Map	X	q28	NCBI
HuRef	X	141,623,032 - 141,647,457 (-)	NCBI		HuRef
CHM1_1	X	152,840,359 - 152,864,610 (-)	NCBI		CHM1_1

Bcap31
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	72,729,784 - 72,761,421 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	72,729,784 - 72,759,781 (-)	Ensembl
GRCm38	X	73,686,178 - 73,717,815 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	73,686,178 - 73,716,175 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	70,931,522 - 70,961,514 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	69,938,903 - 69,968,895 (-)	NCBI			mm8
Celera	X	64,939,998 - 64,969,873 (-)	NCBI		Celera
Cytogenetic Map	X	A7.3	NCBI

Bcap31
(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	151,397,567 - 151,429,666 (-)	NCBI
Rnor_6.0 Ensembl	X	157,095,937 - 157,126,393 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	157,094,365 - 157,126,397 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	1	152,843,762 - 152,875,715 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	159,583,683 - 159,614,143 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	X	159,658,111 - 159,688,572 (-)	NCBI
Celera	1	136,461,516 - 136,491,976 (+)	NCBI		Celera
Cytogenetic Map	X	q37	NCBI

Bcap31
(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_004955580	428,644 - 459,168 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955580	429,223 - 459,168 (-)	NCBI	ChiLan1.0	ChiLan1.0

BCAP31
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Mhudiblu_PPA_v0	X	143,265,920 - 143,274,956 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

BCAP31
(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	121,515,417 - 121,550,373 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	121,507,084 - 121,545,263 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	106,844,790 - 106,879,849 (-)	NCBI
ROS_Cfam_1.0	X	124,656,935 - 124,692,012 (-)	NCBI
UMICH_Zoey_3.1	X	120,426,370 - 120,461,432 (-)	NCBI
UNSW_CanFamBas_1.0	X	122,941,327 - 122,976,452 (-)	NCBI
UU_Cfam_GSD_1.0	X	122,703,489 - 122,738,554 (-)	NCBI

Bcap31
(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	118,844,918 - 118,877,048 (-)	NCBI
SpeTri2.0	NW_004936809	582,689 - 614,800 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

BCAP31
(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	124,457,001 - 124,484,743 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	124,456,999 - 124,484,923 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	142,021,546 - 142,049,432 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

BCAP31
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	X	128,128,739 - 128,152,617 (-)	NCBI
ChlSab1.1 Ensembl	X	128,128,271 - 128,151,823 (-)	Ensembl

Bcap31
(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	398,901 - 420,767 (-)	NCBI

Position Markers

D5S651

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,986,298 - 152,986,664	UniSTS	GRCh37
GRCh37	5	33,382,212 - 33,382,317	UniSTS	GRCh37
GRCh37	5	33,382,121 - 33,382,301	UniSTS	GRCh37
Build 36	5	33,417,969 - 33,418,074	RGD	NCBI36
Celera	5	33,263,165 - 33,263,345	UniSTS
Celera	X	153,219,979 - 153,220,345	UniSTS
Celera	5	33,263,256 - 33,263,361	RGD
HuRef	5	33,351,007 - 33,351,108	UniSTS
HuRef	X	141,643,555 - 141,643,921	UniSTS
HuRef	5	33,350,916 - 33,351,092	UniSTS
Marshfield Genetic Map	5	47.09	UniSTS
Marshfield Genetic Map	5	47.09	RGD
Genethon Genetic Map	5	46.6	UniSTS
TNG Radiation Hybrid Map	5	15647.0	UniSTS
TNG Radiation Hybrid Map	5	15605.0	UniSTS
Stanford-G3 RH Map	5	1181.0	UniSTS
GeneMap99-GB4 RH Map	5	119.98	UniSTS
Whitehead-YAC Contig Map	5		UniSTS
NCBI RH Map	5	175.4	UniSTS
GeneMap99-G3 RH Map	5	1227.0	UniSTS

RH77716

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	32,884,580 - 32,884,809	UniSTS	GRCh37
Build 36	16	32,792,081 - 32,792,310	RGD	NCBI36
Cytogenetic Map	16	p11.2	UniSTS
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,623,116 - 141,623,345	UniSTS

UniSTS:99200

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,990,572 - 152,990,659	UniSTS	GRCh37
Build 36	X	152,643,766 - 152,643,853	RGD	NCBI36
Celera	X	153,224,253 - 153,224,340	RGD
HuRef	X	141,647,828 - 141,647,915	UniSTS

DXS7452

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,965,967 - 152,966,122	UniSTS	GRCh37
Build 36	X	152,619,161 - 152,619,316	RGD	NCBI36
Celera	X	153,199,651 - 153,199,806	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,623,052 - 141,623,207	UniSTS

GDB:511618

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,991,221 - 152,991,340	UniSTS	GRCh37
Build 36	X	152,644,415 - 152,644,534	RGD	NCBI36
Celera	X	153,224,902 - 153,225,021	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,648,477 - 141,648,596	UniSTS

GDB:523970

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,990,639 - 152,991,175	UniSTS	GRCh37
Build 36	X	152,643,833 - 152,644,369	RGD	NCBI36
Celera	X	153,224,320 - 153,224,856	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,647,895 - 141,648,431	UniSTS

GDB:524010

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,990,639 - 152,991,156	UniSTS	GRCh37
Build 36	X	152,643,833 - 152,644,350	RGD	NCBI36
Celera	X	153,224,320 - 153,224,837	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,647,895 - 141,648,412	UniSTS

DXS7418

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,982,386 - 152,982,504	UniSTS	GRCh37
Build 36	X	152,635,580 - 152,635,698	RGD	NCBI36
Celera	X	153,216,067 - 153,216,185	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,639,612 - 141,639,730	UniSTS

RH70615

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,980,735 - 152,980,864	UniSTS	GRCh37
Build 36	X	152,633,929 - 152,634,058	RGD	NCBI36
Celera	X	153,214,416 - 153,214,545	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,637,960 - 141,638,089	UniSTS
GeneMap99-GB4 RH Map	X	350.52	UniSTS

RH71460

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	152,980,663 - 152,980,847	UniSTS	GRCh37
Build 36	X	152,633,857 - 152,634,041	RGD	NCBI36
Celera	X	153,214,344 - 153,214,528	RGD
Cytogenetic Map	X	q28	UniSTS
HuRef	X	141,637,888 - 141,638,072	UniSTS
GeneMap99-GB4 RH Map	X	352.26	UniSTS

RH79936

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	X	q28	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	3543
Count of miRNA genes:	878
Interacting mature miRNAs:	1030
Transcripts:	ENST00000345046, ENST00000416815, ENST00000423827, ENST00000429550, ENST00000430088, ENST00000441714, ENST00000442093, ENST00000458587, ENST00000468947
Prediction methods:	Microtar, Miranda, Pita, Pita,Microtar, 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

2435

2976

1726

624

1948

465

4357

2185

3730

419

1420

1610

175

1204

2788

Low

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_023231	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001139441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001139457	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001256447	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958758	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958760	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002958761	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AI123868	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK057613	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK125631	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK222494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK223059	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AU132745	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014323	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC065292	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BE729820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG779815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX474419	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471172	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CX164660	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA134013	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA819112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U36341	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U52111	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	X81109	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z31696	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000345046 ⟹ ENSP00000343458

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,492 - 153,724,387 (-)	Ensembl

RefSeq Acc Id:

ENST00000416815 ⟹ ENSP00000394270

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,702,990 - 153,724,113 (-)	Ensembl

RefSeq Acc Id:

ENST00000423827 ⟹ ENSP00000389740

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,703,001 - 153,724,044 (-)	Ensembl

RefSeq Acc Id:

ENST00000429550 ⟹ ENSP00000409888

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,702,975 - 153,724,565 (-)	Ensembl

RefSeq Acc Id:

ENST00000430088 ⟹ ENSP00000402342

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,704,021 - 153,723,399 (-)	Ensembl

RefSeq Acc Id:

ENST00000442093 ⟹ ENSP00000400345

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,702,970 - 153,724,383 (-)	Ensembl

RefSeq Acc Id:

ENST00000458587 ⟹ ENSP00000392330

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,492 - 153,724,066 (-)	Ensembl

RefSeq Acc Id:

ENST00000468947

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,715,567 - 153,721,157 (-)	Ensembl

RefSeq Acc Id:

ENST00000645006

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,531 - 153,702,454 (-)	Ensembl

RefSeq Acc Id:

ENST00000645377 ⟹ ENSP00000494936

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,497 - 153,724,388 (-)	Ensembl

RefSeq Acc Id:

ENST00000645802

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,715,417 - 153,724,396 (-)	Ensembl

RefSeq Acc Id:

ENST00000646514

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,503 - 153,705,456 (-)	Ensembl

RefSeq Acc Id:

ENST00000647529 ⟹ ENSP00000494052

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,496 - 153,724,435 (-)	Ensembl

RefSeq Acc Id:

ENST00000672675 ⟹ ENSP00000499882

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	153,700,500 - 153,724,388 (-)	Ensembl

RefSeq Acc Id:

NM_001139441 ⟹ NP_001132913

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,492 - 153,724,127 (-)	NCBI
GRCh37	X	152,965,947 - 152,990,201 (-)	ENTREZGENE
HuRef	X	141,623,032 - 141,647,457 (-)	ENTREZGENE
CHM1_1	X	152,840,359 - 152,863,991 (-)	NCBI

Sequence:

show sequence

GAAGCCCCACCTGGAGGAGCGGCCGGGATGGGCCTCCGGGACGGTGTGCCAGGCCGGGGCCAAG
TCGGAGGCCCCTCGCTCTGGGTGGGCGCTGGGGCCCGCGAGGGCTACTGAAACAAGCTCACATC
TTCCTGTGGGAAACCTTCTAGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTC
TATGCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGATGGCAGA
AGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTTCT
CATTGTCATCCTTGTGCTGTTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGATGATGTG
ACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTTCC
GTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTAGACGCCT
GGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCG
GAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAGGGAGCTG
CTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGAACAGGAG
CCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAAACTAGAGAAA
GCTGAAAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCT
TGCTGGAGGAGCACGCAAAGCTGCAGGCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTA
AGGGCCTCCTTCCTCCCCTGCCTGCAGCTGGCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAG
AGCCCGGCCTCTCCCTCCAGTACTTCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAG
CTCATAGCTCGTCATCTCGGCCCTTGTCCACACTCTCCAAGCACATTACAGGGGACCTGATTGC
TACACGTTCAGAATGCGTTTGCTGTCATCCTGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGC
TTCCACGCCTGAGCGTGGAGAGCACGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCC
TGTTGGTTTGAGCCCCTTTTTGTTTTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGG
GTGGAGCAGGTGGACTGGAGTTTCTCTTGAGGGCAATAAAAGTTGTCATGGTGTGTACGTGGAA
AA

hide sequence

RefSeq Acc Id:

NM_001139457 ⟹ NP_001132929

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,492 - 153,724,101 (-)	NCBI
GRCh37	X	152,965,947 - 152,990,201 (-)	ENTREZGENE
HuRef	X	141,623,032 - 141,647,457 (-)	ENTREZGENE
CHM1_1	X	152,840,359 - 152,863,965 (-)	NCBI

Sequence:

show sequence

GATGGGCCTCCGGGACGGTGTGCCAGGCCGGGGCCAAGTCGGAGGCCCCTCGCTCTGGGTGGGC
GCTGGGGCCCGCGAGGGCTACTGTAAGGACCCCTGGCTTCTGAGGATACTGCGTCTAGAACTTT
CTCCGTATGGGGCCTTGAGGTGCTTGGTCGAGACCTGCCTTTGCGCTTGGTCCCGAATCCTGCC
CTCTAGGAGTCGCTCTTGCGGGCCTCCAGCCCACCGGAGGCGAAGCGGCCCCGGGCGGAAGGCC
GCTGGATCCTCGAGGGAGGTGCCGGTTTCTCTCCGCGGGCGCCGTGGGGACGGTGGGAGGCGGG
GGCGTCGGCAGCGCTTGGACTAGGTGCGGCCTTGGGCCTGCCTGGTAGCGGGGATTTGGGCCCG
CAGAGCGCCCGCCTCTGCGGCTGAGTTCTGCCTGGCGGGGAAGGGAGCGCCCGATGGGTGCCGA
GGCGTCCTCCTCTTGGTGCCCTGGCACTGCTCTTCCCGAAGAACGCCTTTCAGTTAAACGGGCG
TCGGAAATCTCGGGCTTCCTGGGGCAGGGATCGTCGGGAGAGGCCGCTCTGGACGTGTTGACAC
ACGTGCTGGAGGGGGCAGGAAACAAGCTCACATCTTCCTGTGGGAAACCTTCTAGCAACAGGAT
GAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTCTATGCGGAGGTCTTTGTTGTGTTGCTTCTC
TGCATTCCCTTCATTTCTCCTAAAAGATGGCAGAAGATTTTCAAGTCCCGGCTGGTGGAGTTGT
TAGTGTCCTATGGCAACACCTTCTTTGTGGTTCTCATTGTCATCCTTGTGCTGTTGGTCATCGA
TGCCGTGCGCGAAATTCGGAAGTATGATGATGTGACGGAAAAGGTGAACCTCCAGAACAATCCC
GGGGCCATGGAGCACTTCCACATGAAGCTTTTCCGTGCCCAGAGGAATCTCTACATTGCTGGCT
TTTCCTTGCTGCTGTCCTTCCTGCTTAGACGCCTGGTGACTCTCATTTCGCAGCAGGCCACGCT
GCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCGGAGAGTGCTAGTGAGGCGGCCAAGAAGTAC
ATGGAGGAGAATGACCAGCTCAAGAAGGGAGCTGCTGTTGACGGAGGCAAGTTGGATGTCGGGA
ATGCTGAGGTGAAGTTGGAGGAAGAGAACAGGAGCCTGAAGGCTGACCTGCAGAAGCTAAAGGA
CGAGCTGGCCAGCACTAAGCAAAAACTAGAGAAAGCTGAAAACCAGGTTCTGGCCATGCGGAAG
CAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAAGCTGCAGGCTG
CAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAAGGGCCTCCTTCCTCCCCTGCCTGCAGCTG
GCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAGAGCCCGGCCTCTCCCTCCAGTACTTCTGTT
TGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAGCTCATAGCTCGTCATCTCGGCCCTTGTCCA
CACTCTCCAAGCACATTACAGGGGACCTGATTGCTACACGTTCAGAATGCGTTTGCTGTCATCC
TGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGCTTCCACGCCTGAGCGTGGAGAGCACGAGTT
AGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCCTGTTGGTTTGAGCCCCTTTTTGTTTTGCCC
TCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGGGTGGAGCAGGTGGACTGGAGTTTCTCTTGA
GGGCAATAAAAGTTGTCATGGTGTGTACGTGGAAAA

hide sequence

RefSeq Acc Id:

NM_001256447 ⟹ NP_001243376

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,492 - 153,724,387 (-)	NCBI
GRCh37	X	152,965,947 - 152,990,201 (-)	NCBI
HuRef	X	141,623,032 - 141,647,457 (-)	NCBI
CHM1_1	X	152,840,359 - 152,864,610 (-)	NCBI

Sequence:

show sequence

ACCCTGTTCTCGCCCCTCGGCGGGGCCCGCCCACACCCCCACCTCCCGTTCTCGCCCCTCGGCG
GGGCCCCTCCCGCACCACAGAGACGTGGGACGGCCGCGCGGACTAGAGAAGCGGCCCTCGCCGG
CCCGACAAAGCCCCGCCCCGCCCCGCCCGCGTGCTCGCTCCACCCCGCCCTGCTCGCCCGGAGC
CCGAGGCGCCTCTTCCTCTCCCGCTCGGAGCGCCGGCCCTCCGCTCCGGGGCGGGGTGGGAAGC
GGAGGTGGGCGGAGCCTCCGGGGCCTCGCGAGGGCTGGTGGGCGGTGCCCGGCGGGCGCTTCCG
GTTTCCGGCCGCGGTATGAGGGGCGGGGCCGGGGCTGCTGTGGGAGAGTTCTGTTGCTGCGGCG
GGGCCTGCACGTTGACTGTGGGAAACTCGGAAACAAGCTCACATCTTCCTGTGGGAAACCTTCT
AGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTCTATGCGGAGGTCTTTGTTG
TGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGATGGCAGAAGATTTTCAAGTCCCGGCT
GGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTTCTCATTGTCATCCTTGTGCTG
TTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGATGATGTGACGGAAAAGGTGAACCTCC
AGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTTCCGTGCCCAGAGGAATCTCTA
CATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTAGACGCCTGGTGACTCTCATTTCGCAG
CAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCGGAGAGTGCTAGTGAGGCGG
CCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAGGGAGCTGCTGTTGACGGAGGCAAGTT
GGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGAACAGGAGCCTGAAGGCTGACCTGCAG
AAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAAACTAGAGAAAGCTGAAAACCAGGTTCTGG
CCATGCGGAAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAA
GCTGCAGGCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAAGGGCCTCCTTCCTCCCCT
GCCTGCAGCTGGCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAGAGCCCGGCCTCTCCCTCCA
GTACTTCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAGCTCATAGCTCGTCATCTCG
GCCCTTGTCCACACTCTCCAAGCACATTACAGGGGACCTGATTGCTACACGTTCAGAATGCGTT
TGCTGTCATCCTGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGCTTCCACGCCTGAGCGTGGA
GAGCACGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCCTGTTGGTTTGAGCCCCTTT
TTGTTTTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGGGTGGAGCAGGTGGACTGGA
GTTTCTCTTGAGGGCAATAAAAGTTGTCATGGTGTGTACGTGGAAAA

hide sequence

RefSeq Acc Id:

NM_005745 ⟹ NP_005736

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,492 - 153,724,387 (-)	NCBI
GRCh37	X	152,965,947 - 152,990,201 (-)	ENTREZGENE
Build 36	X	152,619,146 - 152,643,081 (-)	NCBI Archive
HuRef	X	141,623,032 - 141,647,457 (-)	ENTREZGENE
CHM1_1	X	152,840,359 - 152,864,247 (-)	NCBI

Sequence:

show sequence

GAGAGTTCTGTTGCTGCGGCGGGGCCTGCACGTTGACTGTGGGAAACTCGGTGAGCGGGCTCCG
CGCGCCGGGCTGGGCTCCGGGACCGCGGAGGCTCCCCGGCCCATCGACGAGGGAGAGAGGCGAG
CGGCGCGGGGAGGCCCGGGGGCCGGGGAATCTCGGGGCCCGCAGCCTACCTGCGTGAAACAAGC
TCACATCTTCCTGTGGGAAACCTTCTAGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCAC
CTTCCTCTATGCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGA
TGGCAGAAGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTG
TGGTTCTCATTGTCATCCTTGTGCTGTTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGA
TGATGTGACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAG
CTTTTCCGTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTA
GACGCCTGGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAA
GCAGGCGGAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAG
GGAGCTGCTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGA
ACAGGAGCCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAAACT
AGAGAAAGCTGAAAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGCCTCACCAAGGAGTAC
GACCGCTTGCTGGAGGAGCACGCAAAGCTGCAGGCTGCAGTAGATGGTCCCATGGACAAGAAGG
AAGAGTAAGGGCCTCCTTCCTCCCCTGCCTGCAGCTGGCTTCCACCTGGCACGTGCCTGCTGCT
TCCTGAGAGCCCGGCCTCTCCCTCCAGTACTTCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCT
TCCACAGCTCATAGCTCGTCATCTCGGCCCTTGTCCACACTCTCCAAGCACATTACAGGGGACC
TGATTGCTACACGTTCAGAATGCGTTTGCTGTCATCCTGCTTGGCCTGGCCAGGCCTGGCACAG
CCTTGGCTTCCACGCCTGAGCGTGGAGAGCACGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCT
GACTTCCTGTTGGTTTGAGCCCCTTTTTGTTTTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGG
AGGGTGGGTGGAGCAGGTGGACTGGAGTTTCTCTTGAGGGCAATAAAAGTTGTCATGGTGTGTA
CGTGGAAAA

hide sequence

RefSeq Acc Id:

XR_002958758

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,497 - 153,724,094 (-)	NCBI

Sequence:

show sequence

CTCCGGGACGGTGTGCCAGGCCGGGGCCAAGTCGGAGGCCCCTCGCTCTGGGTGGGCGCTGGGG
CCCGCGAGGGCTACTGTAAGGACCCCTGGCTTCTGAGGATACTGCGTCTAGAACTTTCTCCGTA
TGGGGCCTTGAGGTGCTTGGTCGAGACCTGCCTTTGCGCTTGGTCCCGAATCCTGCCCTCTAGG
AGTCGCTCTTGCGGGCCTCCAGCCCACCGGAGGCGAAGCGGCCCCGGGCGGAAGGCCGCTGGAT
CCTCGAGGGAGGTGCCGGTTTCTCTCCGCGGGCGCCGTGGGGACGGTGGGAGGCGGGGGCGTCG
GCAGCGCTTGGACTAGGTGCGGCCTTGGGCCTGCCTGGTAGCGGGGATTTGGGCCCGCAGAGCG
CCCGCCTCTGCGGCTGAGTTCTGCCTGGCGGGGAAGGGAGCGCCCGATGGGTGCCGAGGCGTCC
TCCTCTTGGTGCCCTGGCACTGCTCTTCCCGAAGAACGCCTTTCAGTTAAACGGGCGTCGGAAA
TCTCGGGCTTCCTGGGGCAGGGATCGTCGGGAGAGGCCGCTCTGGACGTGTTGACACACGTGCT
GGAGGGGGCAGGAAACAAGCTCACATCTTCCTGTGGGAAACCTTCTAGCAACAGGATGAGTCTG
CAGTGGACTGCAGTTGCCACCTTCCTCTATGCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTC
CCTTCATTTCTCCTAAAAGATGGCAGAAGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTC
CTATGGCAACACCTTCTTTGTGGTTCTCATTGTCATCCTTGTGCTGTTGGTCATCGATGCCGTG
CGCGAAATTCGGAAGTATGATGATGTGACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCA
TGGAGCACTTCCACATGAAGCTTTTCCGTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTT
GCTGCTGTCCTTCCTGCTTAGACGCCTGGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCC
TCCAATGAAGCCTTTAAAAAGCAGGCGGAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGG
AGAATGACCAGCTCAAGAAGGGAGCTGCTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGA
GGTGAAGTTGGAGGAAGAGAACAGGAGCCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTG
GCCAGCACTAAGCAAAGTGAGGCTCGACCTCGTGTCCTTCCCCGCAGGGAAGTCCAGAGGAGCC
TCCTCTGCCCGCTGCTGCCCATTTTGTGCCAAAGTATTAGTAACAAGCCTTGCACGCACGCTCG
AGGGCTGGCTGAAAACAGACCAATAGCACCCTGCGCCTCCAACCCCAATGCAGCCATGCTTAGC
CGGCAGGCCAGTGAGGCTAAGTGGTTTGAATGGGGCTCAGGAGGAACCAGGCTGCAGTTGGTGG
GCCTCGATTGCCCTGCACTAGAGCAGTGCATGCTGGGGCTTTCCCGTCCAGAGTGTGGCACGGT
AGCCCCAGCATGCCTGGGGGCTGAGAATGAGGGGAGTGTGGGAGTGGCGTTCAGGAGGGGAGTG
GGCGGCTCCCAAGCGGCCTGCCTGTCTTTGGTCTCCCACGCATAGACTTAAGTCTGGGGCGTTT
TCCCCCAATACCACAGGCCTCGCCTGCTGCTGCTGTGTGCAAGGCGTGGTTGTCATTGGGTCTC
GCTTGCAGGCTGGGATCTTGCTCCCTGTCTCCCACTCTCAGCCTCCCTGGAGGTTACCCTTGCC
GAGAGCCACTAGAGTTCCTCTCCATTAAAGGGACTGGGGGATGGCCTCTGTGTTTCTTTTGCTT
TATCTTGAGCTTTTTTGTCAGCCCTTTCCCTCTACTTTGGGGGCCTGCAAAAGCAGAGGGGCTT
TATTTTGAGAAGTAGCCTCCTGTATAACCTCGTTTGAGATAGATTTGGGCCAGTTTCTGGTGTC
TGTAGCAGTCGGGTTTTTTCCCCCTAATTCCTGTCTTTTCGTTTCTGTTTTCTTGGTCATTTAC
ATCATTTCAAGAACTAGAGAAAGCTGAAAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGC
CTCACCAAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAAGCTGCAGGCTGCAGTAGATGGTC
CCATGGACAAGAAGGAAGAGTAAGGGCCTCCTTCCTCCCCTGCCTGCAGCTGGCTTCCACCTGG
CACGTGCCTGCTGCTTCCTGAGAGCCCGGCCTCTCCCTCCAGTACTTCTGTTTGTGCCCTTCTG
CTTCCCCCATTCCCTTCCACAGCTCATAGCTCGTCATCTCGGCCCTTGTCCACACTCTCCAAGC
ACATTACAGGGGACCTGATTGCTACACGTTCAGAATGCGTTTGCTGTCATCCTGCTTGGCCTGG
CCAGGCCTGGCACAGCCTTGGCTTCCACGCCTGAGCGTGGAGAGCACGAGTTAGTTGTAGTCCG
GCTTGCGGTGGGGCTGACTTCCTGTTGGTTTGAGCCCCTTTTTGTTTTGCCCTCTGGGTGTTTT
CTTTGGTCCCGCAGGAGGGTGGGTGGAGCAGGTGGACTGGAGTTTCTCTTGAGGGCAATAAAAG
TTGTCATGGTGTGTA

hide sequence

RefSeq Acc Id:

XR_002958759

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,497 - 153,724,746 (-)	NCBI

Sequence:

show sequence

ACCCTGTTCTCGCCCCTCGGCGGGGCCCGCCCACACCCCCACCTCCCGTTCTCGCCCCTCGGCG
GGGCCCCTCCCGCACCACAGAGACGTGGGACGGCCGCGCGGACTAGAGAAGCGGCCCTCGCCGG
CCCGACAAAGCCCCGCCCCGCCCCGCCCGCGTGCTCGCTCCACCCCGCCCTGCTCGCCCGGAGC
CCGAGGCGCCTCTTCCTCTCCCGCTCGGAGCGCCGGCCCTCCGCTCCGGGGCGGGGTGGGAAGC
GGAGGTGGGCGGAGCCTCCGGGGCCTCGCGAGGGCTGGTGGGCGGTGCCCGGCGGGCGCTTCCG
GTTTCCGGCCGCGGTATGAGGGGCGGGGCCGGGGCTGCTGTGGGAGAGTTCTGTTGCTGCGGCG
GGGCCTGCACGTTGACTGTGGGAAACTCGGAAACAAGCTCACATCTTCCTGTGGGAAACCTTCT
AGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTCTATGCGGAGGTCTTTGTTG
TGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGATGGCAGAAGATTTTCAAGTCCCGGCT
GGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTTCTCATTGTCATCCTTGTGCTG
TTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGATGATGTGACGGAAAAGGTGAACCTCC
AGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTTCCGTGCCCAGAGGAATCTCTA
CATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTAGACGCCTGGTGACTCTCATTTCGCAG
CAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCGGAGAGTGCTAGTGAGGCGG
CCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAGGGAGCTGCTGTTGACGGAGGCAAGTT
GGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGAACAGGAGCCTGAAGGCTGACCTGCAG
AAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAGTGAGGCTCGACCTCGTGTCCTTCCCCGCA
GGGAAGTCCAGAGGAGCCTCCTCTGCCCGCTGCTGCCCATTTTGTGCCAAAGTATTAGTAACAA
GCCTTGCACGCACGCTCGAGGGCTGGCTGAAAACAGACCAATAGCACCCTGCGCCTCCAACCCC
AATGCAGCCATGCTTAGCCGGCAGGCCAGTGAGGCTAAGTGGTTTGAATGGGGCTCAGGAGGAA
CCAGGCTGCAGTTGGTGGGCCTCGATTGCCCTGCACTAGAGCAGTGCATGCTGGGGCTTTCCCG
TCCAGAGTGTGGCACGGTAGCCCCAGCATGCCTGGGGGCTGAGAATGAGGGGAGTGTGGGAGTG
GCGTTCAGGAGGGGAGTGGGCGGCTCCCAAGCGGCCTGCCTGTCTTTGGTCTCCCACGCATAGA
CTTAAGTCTGGGGCGTTTTCCCCCAATACCACAGGCCTCGCCTGCTGCTGCTGTGTGCAAGGCG
TGGTTGTCATTGGGTCTCGCTTGCAGGCTGGGATCTTGCTCCCTGTCTCCCACTCTCAGCCTCC
CTGGAGGTTACCCTTGCCGAGAGCCACTAGAGTTCCTCTCCATTAAAGGGACTGGGGGATGGCC
TCTGTGTTTCTTTTGCTTTATCTTGAGCTTTTTTGTCAGCCCTTTCCCTCTACTTTGGGGGCCT
GCAAAAGCAGAGGGGCTTTATTTTGAGAAGTAGCCTCCTGTATAACCTCGTTTGAGATAGATTT
GGGCCAGTTTCTGGTGTCTGTAGCAGTCGGGTTTTTTCCCCCTAATTCCTGTCTTTTCGTTTCT
GTTTTCTTGGTCATTTACATCATTTCAAGAACTAGAGAAAGCTGAAAACCAGGTTCTGGCCATG
CGGAAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGCTGGAGGAGCACGCAAAGCTGC
AGGCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAAGGGCCTCCTTCCTCCCCTGCCTG
CAGCTGGCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAGAGCCCGGCCTCTCCCTCCAGTACT
TCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAGCTCATAGCTCGTCATCTCGGCCCT
TGTCCACACTCTCCAAGCACATTACAGGGGACCTGATTGCTACACGTTCAGAATGCGTTTGCTG
TCATCCTGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGCTTCCACGCCTGAGCGTGGAGAGCA
CGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCCTGTTGGTTTGAGCCCCTTTTTGTT
TTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGGGTGGAGCAGGTGGACTGGAGTTTC
TCTTGAGGGCAATAAAAGTTGTCATGGTGTGTA

hide sequence

RefSeq Acc Id:

XR_002958760

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,497 - 153,724,378 (-)	NCBI

Sequence:

show sequence

TTCTGTTGCTGCGGCGGGGCCTGCACGTTGACTGTGGGAAACTCGGTGAGCGGGCTCCGCGCGC
CGGGCTGGGCTCCGGGACCGCGGAGGCTCCCCGGCCCATCGACGAGGGAGAGAGGCGAGCGGCG
CGGGGAGGCCCGGGGGCCGGGGAATCTCGGGGCCCGCAGCCTACCTGCGTGAAACAAGCTCACA
TCTTCCTGTGGGAAACCTTCTAGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCC
TCTATGCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGATGGCA
GAAGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTT
CTCATTGTCATCCTTGTGCTGTTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGATGATG
TGACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTT
CCGTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTAGACGC
CTGGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGG
CGGAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAGGGAGC
TGCTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGAACAGG
AGCCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAGTGAGGCTC
GACCTCGTGTCCTTCCCCGCAGGGAAGTCCAGAGGAGCCTCCTCTGCCCGCTGCTGCCCATTTT
GTGCCAAAGTATTAGTAACAAGCCTTGCACGCACGCTCGAGGGCTGGCTGAAAACAGACCAATA
GCACCCTGCGCCTCCAACCCCAATGCAGCCATGCTTAGCCGGCAGGCCAGTGAGGCTAAGTGGT
TTGAATGGGGCTCAGGAGGAACCAGGCTGCAGTTGGTGGGCCTCGATTGCCCTGCACTAGAGCA
GTGCATGCTGGGGCTTTCCCGTCCAGAGTGTGGCACGGTAGCCCCAGCATGCCTGGGGGCTGAG
AATGAGGGGAGTGTGGGAGTGGCGTTCAGGAGGGGAGTGGGCGGCTCCCAAGCGGCCTGCCTGT
CTTTGGTCTCCCACGCATAGACTTAAGTCTGGGGCGTTTTCCCCCAATACCACAGGCCTCGCCT
GCTGCTGCTGTGTGCAAGGCGTGGTTGTCATTGGGTCTCGCTTGCAGGCTGGGATCTTGCTCCC
TGTCTCCCACTCTCAGCCTCCCTGGAGGTTACCCTTGCCGAGAGCCACTAGAGTTCCTCTCCAT
TAAAGGGACTGGGGGATGGCCTCTGTGTTTCTTTTGCTTTATCTTGAGCTTTTTTGTCAGCCCT
TTCCCTCTACTTTGGGGGCCTGCAAAAGCAGAGGGGCTTTATTTTGAGAAGTAGCCTCCTGTAT
AACCTCGTTTGAGATAGATTTGGGCCAGTTTCTGGTGTCTGTAGCAGTCGGGTTTTTTCCCCCT
AATTCCTGTCTTTTCGTTTCTGTTTTCTTGGTCATTTACATCATTTCAAGAACTAGAGAAAGCT
GAAAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGC
TGGAGGAGCACGCAAAGCTGCAGGCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAAGG
GCCTCCTTCCTCCCCTGCCTGCAGCTGGCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAGAGC
CCGGCCTCTCCCTCCAGTACTTCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAGCTC
ATAGCTCGTCATCTCGGCCCTTGTCCACACTCTCCAAGCACATTACAGGGGACCTGATTGCTAC
ACGTTCAGAATGCGTTTGCTGTCATCCTGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGCTTC
CACGCCTGAGCGTGGAGAGCACGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCCTGT
TGGTTTGAGCCCCTTTTTGTTTTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGGGTG
GAGCAGGTGGACTGGAGTTTCTCTTGAGGGCAATAAAAGTTGTCATGGTGTGTA

hide sequence

RefSeq Acc Id:

XR_002958761

RefSeq Status:

Type:

NON-CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,700,497 - 153,724,127 (-)	NCBI

Sequence:

show sequence

GAAGCCCCACCTGGAGGAGCGGCCGGGATGGGCCTCCGGGACGGTGTGCCAGGCCGGGGCCAAG
TCGGAGGCCCCTCGCTCTGGGTGGGCGCTGGGGCCCGCGAGGGCTACTGAAACAAGCTCACATC
TTCCTGTGGGAAACCTTCTAGCAACAGGATGAGTCTGCAGTGGACTGCAGTTGCCACCTTCCTC
TATGCGGAGGTCTTTGTTGTGTTGCTTCTCTGCATTCCCTTCATTTCTCCTAAAAGATGGCAGA
AGATTTTCAAGTCCCGGCTGGTGGAGTTGTTAGTGTCCTATGGCAACACCTTCTTTGTGGTTCT
CATTGTCATCCTTGTGCTGTTGGTCATCGATGCCGTGCGCGAAATTCGGAAGTATGATGATGTG
ACGGAAAAGGTGAACCTCCAGAACAATCCCGGGGCCATGGAGCACTTCCACATGAAGCTTTTCC
GTGCCCAGAGGAATCTCTACATTGCTGGCTTTTCCTTGCTGCTGTCCTTCCTGCTTAGACGCCT
GGTGACTCTCATTTCGCAGCAGGCCACGCTGCTGGCCTCCAATGAAGCCTTTAAAAAGCAGGCG
GAGAGTGCTAGTGAGGCGGCCAAGAAGTACATGGAGGAGAATGACCAGCTCAAGAAGGGAGCTG
CTGTTGACGGAGGCAAGTTGGATGTCGGGAATGCTGAGGTGAAGTTGGAGGAAGAGAACAGGAG
CCTGAAGGCTGACCTGCAGAAGCTAAAGGACGAGCTGGCCAGCACTAAGCAAAGTGAGGCTCGA
CCTCGTGTCCTTCCCCGCAGGGAAGTCCAGAGGAGCCTCCTCTGCCCGCTGCTGCCCATTTTGT
GCCAAAGTATTAGTAACAAGCCTTGCACGCACGCTCGAGGGCTGGCTGAAAACAGACCAATAGC
ACCCTGCGCCTCCAACCCCAATGCAGCCATGCTTAGCCGGCAGGCCAGTGAGGCTAAGTGGTTT
GAATGGGGCTCAGGAGGAACCAGGCTGCAGTTGGTGGGCCTCGATTGCCCTGCACTAGAGCAGT
GCATGCTGGGGCTTTCCCGTCCAGAGTGTGGCACGGTAGCCCCAGCATGCCTGGGGGCTGAGAA
TGAGGGGAGTGTGGGAGTGGCGTTCAGGAGGGGAGTGGGCGGCTCCCAAGCGGCCTGCCTGTCT
TTGGTCTCCCACGCATAGACTTAAGTCTGGGGCGTTTTCCCCCAATACCACAGGCCTCGCCTGC
TGCTGCTGTGTGCAAGGCGTGGTTGTCATTGGGTCTCGCTTGCAGGCTGGGATCTTGCTCCCTG
TCTCCCACTCTCAGCCTCCCTGGAGGTTACCCTTGCCGAGAGCCACTAGAGTTCCTCTCCATTA
AAGGGACTGGGGGATGGCCTCTGTGTTTCTTTTGCTTTATCTTGAGCTTTTTTGTCAGCCCTTT
CCCTCTACTTTGGGGGCCTGCAAAAGCAGAGGGGCTTTATTTTGAGAAGTAGCCTCCTGTATAA
CCTCGTTTGAGATAGATTTGGGCCAGTTTCTGGTGTCTGTAGCAGTCGGGTTTTTTCCCCCTAA
TTCCTGTCTTTTCGTTTCTGTTTTCTTGGTCATTTACATCATTTCAAGAACTAGAGAAAGCTGA
AAACCAGGTTCTGGCCATGCGGAAGCAGTCTGAGGGCCTCACCAAGGAGTACGACCGCTTGCTG
GAGGAGCACGCAAAGCTGCAGGCTGCAGTAGATGGTCCCATGGACAAGAAGGAAGAGTAAGGGC
CTCCTTCCTCCCCTGCCTGCAGCTGGCTTCCACCTGGCACGTGCCTGCTGCTTCCTGAGAGCCC
GGCCTCTCCCTCCAGTACTTCTGTTTGTGCCCTTCTGCTTCCCCCATTCCCTTCCACAGCTCAT
AGCTCGTCATCTCGGCCCTTGTCCACACTCTCCAAGCACATTACAGGGGACCTGATTGCTACAC
GTTCAGAATGCGTTTGCTGTCATCCTGCTTGGCCTGGCCAGGCCTGGCACAGCCTTGGCTTCCA
CGCCTGAGCGTGGAGAGCACGAGTTAGTTGTAGTCCGGCTTGCGGTGGGGCTGACTTCCTGTTG
GTTTGAGCCCCTTTTTGTTTTGCCCTCTGGGTGTTTTCTTTGGTCCCGCAGGAGGGTGGGTGGA
GCAGGTGGACTGGAGTTTCTCTTGAGGGCAATAAAAGTTGTCATGGTGTGTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001132913	(Get FASTA)	NCBI Sequence Viewer
	NP_001132929	(Get FASTA)	NCBI Sequence Viewer
	NP_001243376	(Get FASTA)	NCBI Sequence Viewer
	NP_005736	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA79508	(Get FASTA)	NCBI Sequence Viewer
	AAH14323	(Get FASTA)	NCBI Sequence Viewer
	AAH65292	(Get FASTA)	NCBI Sequence Viewer
	BAD96214	(Get FASTA)	NCBI Sequence Viewer
	BAD96779	(Get FASTA)	NCBI Sequence Viewer
	BAG51941	(Get FASTA)	NCBI Sequence Viewer
	BAG54226	(Get FASTA)	NCBI Sequence Viewer
	CAA57015	(Get FASTA)	NCBI Sequence Viewer
	CAA83501	(Get FASTA)	NCBI Sequence Viewer
	EAW72818	(Get FASTA)	NCBI Sequence Viewer
	EAW72819	(Get FASTA)	NCBI Sequence Viewer
	EAW72820	(Get FASTA)	NCBI Sequence Viewer
	EAW72821	(Get FASTA)	NCBI Sequence Viewer
	EAW72822	(Get FASTA)	NCBI Sequence Viewer
	EAW72823	(Get FASTA)	NCBI Sequence Viewer
	EAW72824	(Get FASTA)	NCBI Sequence Viewer
	EAW72825	(Get FASTA)	NCBI Sequence Viewer
	P51572	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_005736 ⟸ NM_005745
- Peptide Label:	isoform b
- UniProtKB:	P51572 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVI DAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQAT LLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLK DELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE hide sequence

RefSeq Acc Id:	NP_001132913 ⟸ NM_001139441
- Peptide Label:	isoform b
- UniProtKB:	P51572 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVI DAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQAT LLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLK DELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE hide sequence

RefSeq Acc Id:	NP_001132929 ⟸ NM_001139457
- Peptide Label:	isoform a
- UniProtKB:	P51572 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MGAEASSSWCPGTALPEERLSVKRASEISGFLGQGSSGEAALDVLTHVLEGAGNKLTSSCGKPS SNRMSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVL LVIDAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQ QATLLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQ KLKDELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE hide sequence

RefSeq Acc Id:	NP_001243376 ⟸ NM_001256447
- Peptide Label:	isoform b
- UniProtKB:	P51572 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSLQWTAVATFLYAEVFVVLLLCIPFISPKRWQKIFKSRLVELLVSYGNTFFVVLIVILVLLVI DAVREIRKYDDVTEKVNLQNNPGAMEHFHMKLFRAQRNLYIAGFSLLLSFLLRRLVTLISQQAT LLASNEAFKKQAESASEAAKKYMEENDQLKKGAAVDGGKLDVGNAEVKLEEENRSLKADLQKLK DELASTKQKLEKAENQVLAMRKQSEGLTKEYDRLLEEHAKLQAAVDGPMDKKEE hide sequence

RefSeq Acc Id:

ENSP00000389740 ⟸ ENST00000423827

RefSeq Acc Id:

ENSP00000343458 ⟸ ENST00000345046

RefSeq Acc Id:

ENSP00000409888 ⟸ ENST00000429550

RefSeq Acc Id:

ENSP00000394270 ⟸ ENST00000416815

RefSeq Acc Id:

ENSP00000400345 ⟸ ENST00000442093

RefSeq Acc Id:

ENSP00000392330 ⟸ ENST00000458587

RefSeq Acc Id:

ENSP00000402342 ⟸ ENST00000430088

RefSeq Acc Id:

ENSP00000494936 ⟸ ENST00000645377

RefSeq Acc Id:

ENSP00000499882 ⟸ ENST00000672675

RefSeq Acc Id:

ENSP00000494052 ⟸ ENST00000647529

Protein Domains

Bap31 Bap31_Bap29_C

Promoters

RGD ID:

6808690

Promoter ID:

HG_KWN:68552

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, Jurkat, K562, Lymphoblastoid, NB4

Transcripts:

ENST00000370129, NM_000033, NM_001139441, NM_001139457, NM_005745, NR_024450, OTTHUMT00000061074, OTTHUMT00000061075, OTTHUMT00000061076, OTTHUMT00000061077, OTTHUMT00000061079

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,641,471 - 152,645,157 (+)	MPROMDB

RGD ID:

6851182

Promoter ID:

EP73388

Type:

initiation region

Name:

HS_BCAP31

Description:

B-cell receptor-associated protein 31 (BAP31).

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

NEDO full length human cDNA sequencing project.; Oligo-capping

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	152,643,029 - 152,643,089	EPD

RGD ID:

13628508

Promoter ID:

EPDNEW_H29493

Type:

initiation region

Name:

BCAP31_1

Description:

B-cell receptor-associated protein 31

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29494 EPDNEW_H29498

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,724,066 - 153,724,126	EPDNEW

RGD ID:

13628512

Promoter ID:

EPDNEW_H29494

Type:

initiation region

Name:

BCAP31_2

Description:

B-cell receptor-associated protein 31

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H29493 EPDNEW_H29498

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	153,724,385 - 153,724,445	EPDNEW

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
NM_001256447.2(BCAP31):c.363_364TC[1] (p.Leu122fs)	microsatellite	Chromosome Xq28 deletion syndrome [RCV000578429]\|Inborn genetic diseases [RCV001266266]	ChrX:153704070..153704071 [GRCh38] ChrX:152969525..152969526 [GRCh37] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.194-2A>G	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV000059314]	ChrX:153715691 [GRCh38] ChrX:152981146 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.11:g.153696346_153701690del	deletion	Chromosome Xq28 deletion syndrome [RCV000059315]	ChrX:153696346..153701690 [GRCh38] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.97C>T (p.Gln33Ter)	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV000059316]	ChrX:153720968 [GRCh38] ChrX:152986423 [GRCh37] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:150036146-156022206)x3	copy number gain	See cases [RCV000050946]	ChrX:150036146..156022206 [GRCh38] ChrX:149298619..155251871 [GRCh37] ChrX:148955035..154905065 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)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 Xq28(chrX:153667032-153817949)x0	copy number loss	See cases [RCV000051751]	ChrX:153667032..153817949 [GRCh38] ChrX:152585681..152736598 [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 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:153722500-154367160)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052524]\|See cases [RCV000052524]	ChrX:153722500..154367160 [GRCh38] ChrX:152641149..153248722 [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 Xq28(chrX:153504314-154144797)x2	copy number gain	See cases [RCV000052492]	ChrX:153504314..154144797 [GRCh38] ChrX:152422966..153063464 [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 Xq28(chrX:153585420-154427385)x2	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052521]\|See cases [RCV000052521]	ChrX:153585420..154427385 [GRCh38] ChrX:152864376..153655730 [GRCh37] ChrX:152504072..153308924 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:153590730-154380801)x2	copy number gain	See cases [RCV000052522]	ChrX:153590730..154380801 [GRCh38] ChrX:152864376..153609161 [GRCh37] ChrX:152509382..153262355 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xq28(chrX:153714542-154380803)x2	copy number gain	See cases [RCV000052523]	ChrX:153714542..154380803 [GRCh38] ChrX:152633191..153262357 [NCBI36] ChrX:Xq28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX: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)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 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq27.3-28(chrX:144627217-155434735)x3	copy number gain	See cases [RCV000133725]	ChrX:144627217..155434735 [GRCh38] ChrX:146715565..154664396 [GRCh37] ChrX:143516380..154317590 [NCBI36] ChrX:Xq27.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:92222680-156016920)x1	copy number loss	See cases [RCV000135307]	ChrX:92222680..156016920 [GRCh38] ChrX:91477679..155246585 [GRCh37] ChrX:91364335..154899779 [NCBI36] ChrX:Xq21.31-28	pathogenic
GRCh38/hg38 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 Xq28(chrX:153688340-153704118)x2	copy number gain	See cases [RCV000135947]	ChrX:153688340..153704118 [GRCh38] ChrX:152606989..152622767 [NCBI36] ChrX:Xq28	pathogenic\|uncertain significance
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 Xq28(chrX:153667032-154394658)x2	copy number gain	See cases [RCV000137536]	ChrX:153667032..154394658 [GRCh38] ChrX:152585681..153276194 [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 Xq22.3-28(chrX:106465610-156003242)x1	copy number loss	See cases [RCV000138541]	ChrX:106465610..156003242 [GRCh38] ChrX:105708840..155232907 [GRCh37] ChrX:105595496..154886101 [NCBI36] ChrX:Xq22.3-28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:82211310-156003229)x1	copy number loss	See cases [RCV000139400]	ChrX:82211310..156003229 [GRCh38] ChrX:81466759..155232894 [GRCh37] ChrX:81353415..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:1085618-155699644)x1	copy number loss	See cases [RCV000139278]	ChrX:1085618..155699644 [GRCh38] ChrX:1118268..154929305 [GRCh37] ChrX:1038268..154582499 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.31-28(chrX:88339926-156003242)x1	copy number loss	See cases [RCV000139351]	ChrX:88339926..156003242 [GRCh38] ChrX:87594927..155232907 [GRCh37] ChrX:87481583..154886101 [NCBI36] ChrX:Xq21.31-28	pathogenic\|likely benign
GRCh38/hg38 Xq11.1-28(chrX:62712219-156003242)x3	copy number gain	See cases [RCV000139416]	ChrX:62712219..156003242 [GRCh38] ChrX:61931689..155232907 [GRCh37] ChrX:61848414..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq28(chrX:153451351-154230630)x2	copy number gain	See cases [RCV000140532]	ChrX:153451351..154230630 [GRCh38] ChrX:152716809..153496099 [GRCh37] ChrX:152370003..153149293 [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 Xq28(chrX:153392250-153934599)x3	copy number gain	See cases [RCV000142157]	ChrX:153392250..153934599 [GRCh38] ChrX:152657708..153200052 [GRCh37] ChrX:152310902..152853246 [NCBI36] ChrX:Xq28	uncertain significance
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 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
NM_001256447.2(BCAP31):c.383C>T (p.Thr128Met)	single nucleotide variant	not provided [RCV000224145]	ChrX:153704053 [GRCh38] ChrX:152969508 [GRCh37] ChrX:Xq28	benign\|conflicting interpretations of pathogenicity
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 Xq28(chrX:152912867-153236360)x2	copy number gain	See cases [RCV000239969]	ChrX:152912867..153236360 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:152925866-153032459)x2	copy number gain	See cases [RCV000240069]	ChrX:152925866..153032459 [GRCh37] ChrX:Xq28	uncertain significance
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 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 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	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:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001256447.2(BCAP31):c.307_308CT[1] (p.Tyr104fs)	microsatellite	not provided [RCV000270990]	ChrX:153715573..153715574 [GRCh38] ChrX:152981028..152981029 [GRCh37] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.119T>C (p.Leu40Pro)	single nucleotide variant	Global developmental delay [RCV000415173]	ChrX:153720946 [GRCh38] ChrX:152986401 [GRCh37] ChrX:Xq28	uncertain significance
NM_001256447.2(BCAP31):c.-44-270C>A	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV000415452]	ChrX:153723558 [GRCh38] ChrX:152989013 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.33-28(chrX:94043221-155246585)x1	copy number loss	See cases [RCV000449365]	ChrX:94043221..155246585 [GRCh37] ChrX:Xq21.33-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-154930047)x3	copy number gain	See cases [RCV000449437]	ChrX:168546..154930047 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x3	copy number gain	See cases [RCV000449330]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xq28(chrX:152228560-154930047)x2	copy number gain	See cases [RCV000447331]	ChrX:152228560..154930047 [GRCh37] ChrX:Xq28	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 Xq28(chrX:152970475-153524157)x2	copy number gain	See cases [RCV000447506]	ChrX:152970475..153524157 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq28(chrX:152969516-153044721)x3	copy number gain	See cases [RCV000447135]	ChrX:152969516..153044721 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:150253008-155233731)x1	copy number loss	See cases [RCV000446761]	ChrX:150253008..155233731 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 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:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq28(chrX:152886474-153368990)x2	copy number gain	See cases [RCV000448796]	ChrX:152886474..153368990 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq25-28(chrX:126773628-155233731)x1	copy number loss	See cases [RCV000448724]	ChrX:126773628..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:134114063-155233731)x1	copy number loss	See cases [RCV000448865]	ChrX:134114063..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001256447.2(BCAP31):c.341+2T>G	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV000509475]\|not provided [RCV000485079]	ChrX:153715540 [GRCh38] ChrX:152980995 [GRCh37] ChrX:Xq28	pathogenic\|not provided
GRCh37/hg19 Xq28(chrX:151201777-154741703)x2	copy number gain	See cases [RCV000510478]	ChrX:151201777..154741703 [GRCh37] ChrX:Xq28	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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:79862302-155233731)x1	copy number loss	See cases [RCV000511482]	ChrX:79862302..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq21.31-28(chrX:86900388-155233731)x1	copy number loss	See cases [RCV000511490]	ChrX:86900388..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq27.3-28(chrX:146232592-155233731)x1	copy number loss	See cases [RCV000511228]	ChrX:146232592..155233731 [GRCh37] ChrX:Xq27.3-28	pathogenic
GRCh37/hg19 Xq26.3-28(chrX:133944147-155233731)x3	copy number gain	See cases [RCV000511034]	ChrX:133944147..155233731 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq28(chrX:152559822-153104847)x3	copy number gain	See cases [RCV000511269]	ChrX:152559822..153104847 [GRCh37] ChrX:Xq28	uncertain significance
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 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56457791-155233731)x3	copy number gain	See cases [RCV000511307]	ChrX:56457791..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xq28(chrX:152899437-153624564)x2	copy number gain	See cases [RCV000512403]	ChrX:152899437..153624564 [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
NM_001256447.2(BCAP31):c.739T>C (p.Ter247Gln)	single nucleotide variant	Inborn genetic diseases [RCV000622378]	ChrX:153700939 [GRCh38] ChrX:152966394 [GRCh37] ChrX:Xq28	likely pathogenic\|uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	not provided [RCV000677999]	ChrX:152912867..153236360 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq21.31-28(chrX:91140025-155233731)x1	copy number loss	not provided [RCV000684357]	ChrX:91140025..155233731 [GRCh37] ChrX:Xq21.31-28	pathogenic
GRCh37/hg19 Xq22.3-28(chrX:107823442-155233731)x1	copy number loss	not provided [RCV000684373]	ChrX:107823442..155233731 [GRCh37] ChrX:Xq22.3-28	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:152398094-153176959)x2	copy number gain	not provided [RCV000684736]	ChrX:152398094..153176959 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:152628304-153594168)x2	copy number gain	not provided [RCV000684738]	ChrX:152628304..153594168 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:152941302-153438781)x3	copy number gain	not provided [RCV000684739]	ChrX:152941302..153438781 [GRCh37] ChrX:Xq28	likely pathogenic
GRCh37/hg19 Xq25-28(chrX:125733292-155233846)x1	copy number loss	not provided [RCV000684386]	ChrX:125733292..155233846 [GRCh37] ChrX:Xq25-28	pathogenic
NC_000023.10:g.(?_152954010)_(153599633_?)dup	duplication	Severe neonatal-onset encephalopathy with microcephaly [RCV000707841]	ChrX:152954010..153599633 [GRCh37] ChrX:Xq28	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 Xq22.3-28(chrX:104098124-155233731)x1	copy number loss	not provided [RCV000846958]	ChrX:104098124..155233731 [GRCh37] ChrX:Xq22.3-28	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:152806628-153626649)x2	copy number gain	not provided [RCV000753922]	ChrX:152806628..153626649 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq28(chrX:152932626-153008731)x2	copy number gain	not provided [RCV000753923]	ChrX:152932626..153008731 [GRCh37] ChrX:Xq28	benign
GRCh37/hg19 Xq28(chrX:152959115-152982350)x2	copy number gain	not provided [RCV000753924]	ChrX:152959115..152982350 [GRCh37] ChrX:Xq28	benign
NM_001256447.2(BCAP31):c.517G>T (p.Ala173Ser)	single nucleotide variant	not specified [RCV000736067]	ChrX:153703019 [GRCh38] ChrX:152968474 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq27.1-28(chrX:139504958-155254881)x1	copy number loss	not provided [RCV000753815]	ChrX:139504958..155254881 [GRCh37] ChrX:Xq27.1-28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX: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	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] 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:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_001256447.2(BCAP31):c.192C>T (p.Ile64=)	single nucleotide variant	not provided [RCV000918239]	ChrX:153720873 [GRCh38] ChrX:152986328 [GRCh37] ChrX:Xq28	benign
NM_001256447.2(BCAP31):c.91A>T (p.Arg31Ter)	single nucleotide variant	not provided [RCV000760960]	ChrX:153723154 [GRCh38] ChrX:152988609 [GRCh37] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.9G>T (p.Leu3=)	single nucleotide variant	not provided [RCV000927394]	ChrX:153723236 [GRCh38] ChrX:152988691 [GRCh37] ChrX:Xq28	likely benign
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 Xq26.3-28(chrX:134975270-155233945)	copy number gain	not provided [RCV000767679]	ChrX:134975270..155233945 [GRCh37] ChrX:Xq26.3-28	pathogenic
GRCh37/hg19 Xq28(chrX:152980470-153032459)	copy number loss	Adrenoleukodystrophy [RCV000767810]	ChrX:152980470..153032459 [GRCh37] ChrX:Xq28	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
NM_001256447.2(BCAP31):c.601+9C>T	single nucleotide variant	not provided [RCV000876169]	ChrX:153702926 [GRCh38] ChrX:152968381 [GRCh37] ChrX:Xq28	likely benign
NC_000023.10:g.(?_152954020)_(154096327_?)del	deletion	Adrenoleukodystrophy [RCV000815921]	ChrX:152954020..154096327 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.10:g.(?_152959340)_(153009209_?)del	deletion	Adrenoleukodystrophy [RCV000805899]	ChrX:152959340..153009209 [GRCh37] ChrX:Xq28	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 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:152765599-152970126)x3	copy number gain	not provided [RCV000848856]	ChrX:152765599..152970126 [GRCh37] ChrX:Xq28	uncertain significance
NM_001256447.2(BCAP31):c.384G>A (p.Thr128=)	single nucleotide variant	not provided [RCV000871942]	ChrX:153704052 [GRCh38] ChrX:152969507 [GRCh37] ChrX:Xq28	likely benign
GRCh37/hg19 Xq28(chrX:152398094-153086545)x2	copy number gain	not provided [RCV000848454]	ChrX:152398094..153086545 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq24-28(chrX:118150047-155233731)x1	copy number loss	not provided [RCV000847838]	ChrX:118150047..155233731 [GRCh37] ChrX:Xq24-28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122757437-155208244)x1	copy number loss	Premature ovarian insufficiency [RCV000852349]	ChrX:122757437..155208244 [GRCh37] ChrX:Xq25-28	likely pathogenic
GRCh37/hg19 Xq25-28(chrX:122924044-155233731)x1	copy number loss	not provided [RCV000849097]	ChrX:122924044..155233731 [GRCh37] ChrX:Xq25-28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
NM_001256447.2(BCAP31):c.729_732GAAG[1] (p.Glu245fs)	microsatellite	not provided [RCV000996041]	ChrX:153700942..153700945 [GRCh38] ChrX:152966397..152966400 [GRCh37] ChrX:Xq28	uncertain significance
NM_001256447.2(BCAP31):c.-27T>G	single nucleotide variant	not provided [RCV000996042]	ChrX:153723271 [GRCh38] ChrX:152988726 [GRCh37] ChrX:Xq28	uncertain significance
NM_001256447.2(BCAP31):c.144C>G (p.Gly48=)	single nucleotide variant	not provided [RCV000927428]	ChrX:153720921 [GRCh38] ChrX:152986376 [GRCh37] ChrX:Xq28	likely benign
NM_001256447.2(BCAP31):c.579C>T (p.Asp193=)	single nucleotide variant	not provided [RCV000894870]	ChrX:153702957 [GRCh38] ChrX:152968412 [GRCh37] ChrX:Xq28	likely benign
NM_001256447.2(BCAP31):c.115C>T (p.Arg39Trp)	single nucleotide variant	not provided [RCV000914561]	ChrX:153720950 [GRCh38] ChrX:152986405 [GRCh37] ChrX:Xq28	likely benign
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV000990971]	ChrX:153704021 [GRCh38] ChrX:152969476 [GRCh37] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.713A>T (p.Asp238Val)	single nucleotide variant	Microcephaly [RCV001252804]	ChrX:153700965 [GRCh38] ChrX:152966420 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq21.1-28(chrX:78444738-155233731)x1	copy number loss	not provided [RCV001007318]	ChrX:78444738..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
NC_000023.10:g.(?_152954010)_(153363142_?)dup	duplication	Severe neonatal-onset encephalopathy with microcephaly [RCV001033929]	ChrX:152954010..153363142 [GRCh37] ChrX:Xq28	pathogenic
GRCh37/hg19 Xq25-28(chrX:122132166-155097214)	copy number loss	Intellectual disability [RCV001249592]	ChrX:122132166..155097214 [GRCh37] ChrX:Xq25-28	likely pathogenic
GRCh37/hg19 Xq28(chrX:152516781-153368573)x2	copy number gain	not provided [RCV001007365]	ChrX:152516781..153368573 [GRCh37] ChrX:Xq28	pathogenic
NC_000023.10:g.(?_152954010)_(153141311_?)dup	duplication	Creatine transporter deficiency [RCV001033780]	ChrX:152954010..153141311 [GRCh37] ChrX:Xq28	uncertain significance
NM_001256447.2(BCAP31):c.317C>T (p.Ala106Val)	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV001253190]	ChrX:153715566 [GRCh38] ChrX:152981021 [GRCh37] ChrX:Xq28	uncertain significance
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 Xq28(chrX:152941302-153055639)x3	copy number gain	not provided [RCV001260060]	ChrX:152941302..153055639 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:152631130-153240286)x3	copy number gain	not provided [RCV001260062]	ChrX:152631130..153240286 [GRCh37] ChrX:Xq28	uncertain significance
GRCh37/hg19 Xq28(chrX:152649825-152988014)	copy number gain	Rett syndrome [RCV001291983]	ChrX:152649825..152988014 [GRCh37] ChrX:Xq28	pathogenic
NM_001256447.2(BCAP31):c.492C>G (p.Asp164Glu)	single nucleotide variant	Chromosome Xq28 deletion syndrome [RCV001330371]	ChrX:153703044 [GRCh38] ChrX:152968499 [GRCh37] ChrX:Xq28	uncertain significance
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:16695	AgrOrtholog
COSMIC	BCAP31	COSMIC
Ensembl Genes	ENSG00000185825	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein	ENSP00000343458	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000389740	UniProtKB/TrEMBL
	ENSP00000392330	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000394270	UniProtKB/TrEMBL
	ENSP00000400345	UniProtKB/TrEMBL
	ENSP00000402342	UniProtKB/TrEMBL
	ENSP00000409888	UniProtKB/TrEMBL
	ENSP00000494052	UniProtKB/Swiss-Prot
	ENSP00000494936	UniProtKB/TrEMBL
	ENSP00000499882	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000345046	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000416815	UniProtKB/TrEMBL
	ENST00000423827	UniProtKB/TrEMBL
	ENST00000429550	UniProtKB/TrEMBL
	ENST00000430088	UniProtKB/TrEMBL
	ENST00000442093	UniProtKB/TrEMBL
	ENST00000458587	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000645377	UniProtKB/TrEMBL
	ENST00000647529	UniProtKB/Swiss-Prot
	ENST00000672675	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000185825	GTEx
HGNC ID	HGNC:16695	ENTREZGENE
Human Proteome Map	BCAP31	Human Proteome Map
InterPro	BAP29/BAP31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	BAP29/BAP31_N	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Bap31/Bap29_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:10134	UniProtKB/Swiss-Prot
NCBI Gene	10134	ENTREZGENE
OMIM	300398	OMIM
	300475	OMIM
PANTHER	PTHR12701	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam	Bap31	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Bap31_Bap29_C	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA128394569	PharmGKB
UniProt	A0A2R8Y5M6_HUMAN	UniProtKB/TrEMBL
	BAP31_HUMAN	UniProtKB/Swiss-Prot
	C9J0M4_HUMAN	UniProtKB/TrEMBL
	C9JM14_HUMAN	UniProtKB/TrEMBL
	C9JMD7_HUMAN	UniProtKB/TrEMBL
	C9JQ75_HUMAN	UniProtKB/TrEMBL
	C9JSP1_HUMAN	UniProtKB/TrEMBL
	P51572	ENTREZGENE
UniProt Secondary	B3KQ79	UniProtKB/Swiss-Prot
	D3DWV5	UniProtKB/Swiss-Prot
	Q13836	UniProtKB/Swiss-Prot
	Q96CF0	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-12-19	BCAP31	B cell receptor associated protein 31		B-cell receptor associated protein 31	Symbol and/or name change	5135510	APPROVED
2017-05-16	BCAP31	B-cell receptor associated protein 31		B-cell receptor-associated protein 31	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)

Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM

Imported Annotations - KEGG (archival)