POF1B (POF1B actin binding protein)

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Gene: POF1B (POF1B actin binding protein) Homo sapiens

Analyze

Symbol:

POF1B

Name:

POF1B actin binding protein

RGD ID:

1351618

HGNC Page

HGNC

Description:

Exhibits actin filament binding activity. Involved in actin filament organization; bicellular tight junction assembly; and epithelial cell morphogenesis. Localizes to actin filament; adherens junction; and bicellular tight junction. Implicated in primary ovarian insufficiency.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

FLJ22792; POF; POF2B; premature ovarian failure protein 1B; premature ovarian failure, 1B

RGD Orthologs

Mouse

Rat

Chinchilla

Bonobo

Dog

Squirrel

Pig

Green Monkey

Naked Mole-Rat

Alliance Genes

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	X	85,277,396 - 85,379,717 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	85,277,396 - 85,379,709 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	84,532,402 - 84,634,670 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	84,419,058 - 84,521,404 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	84,338,546 - 84,440,893	NCBI
Celera	X	84,771,759 - 84,874,115 (-)	NCBI
Cytogenetic Map	X	q21.1	NCBI
HuRef	X	78,105,395 - 78,207,259 (-)	NCBI		HuRef
CHM1_1	X	84,426,026 - 84,528,381 (-)	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

autistic disorder (IAGP)

non-syndromic X-linked intellectual disability (IAGP)

non-syndromic X-linked intellectual disability 97 (IAGP)

primary ovarian insufficiency (IAGP)

primary ovarian insufficiency 2B (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 (EXP,ISO)

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

6-propyl-2-thiouracil (ISO)

acrylamide (ISO)

bisphenol A (ISO)

bisphenol F (ISO)

butanal (EXP)

carbon nanotube (ISO)

copper(II) sulfate (EXP)

diuron (ISO)

dorsomorphin (EXP)

doxorubicin (EXP)

furan (ISO)

hexadecanoic acid (EXP)

methimazole (ISO)

methotrexate (EXP)

N-methyl-4-phenylpyridinium (ISO)

pentanal (EXP)

phenethyl isothiocyanate (ISO)

progesterone (ISO)

SB 431542 (EXP)

silicon dioxide (EXP)

sodium arsenite (EXP)

sodium fluoride (ISO)

trichostatin A (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin cytoskeleton organization (IMP)

actin filament organization (IMP)

bicellular tight junction assembly (IMP)

epithelial cell morphogenesis (IMP)

Cellular Component

actin filament (IDA)

adherens junction (IDA)

bicellular tight junction (IDA)

Molecular Function

actin filament binding (IMP)

protein binding (IPI)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Abnormality of the dentition (IAGP)

Delayed puberty (IAGP)

Osteoporosis (IAGP)

Premature ovarian insufficiency (IAGP)

Primary amenorrhea (IAGP)

Schizophrenia (IAGP)

Tall stature (IAGP)

X-linked recessive inheritance (IAGP)

References

References - curated


1.	OMIM Disease Annotation Pipeline
2.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	RGD automated import pipeline for gene-chemical interactions
4.	RGD automated import pipeline for human HPO-to-gene-to-disease annotations

Additional References at PubMed

PMID:8125298	PMID:9001815	PMID:11299520	PMID:12477932	PMID:14702039	PMID:15459172	PMID:15489334	PMID:15772651	PMID:16773570	PMID:17123869	PMID:18029348	PMID:20360068
PMID:20734064	PMID:21145461	PMID:21182205	PMID:21800051	PMID:21940798	PMID:25084053	PMID:25324306	PMID:25468996	PMID:26186194	PMID:26618866	PMID:26816005	PMID:27545878
PMID:27591049	PMID:27634302	PMID:27705803	PMID:28514442	PMID:28675297	PMID:28977666	PMID:29117568	PMID:29859926	PMID:30699358	PMID:31010829	PMID:31180492	PMID:31594818
PMID:32296183	PMID:33144569

Genomics

Comparative Map Data

POF1B
(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	85,277,396 - 85,379,717 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	X	85,277,396 - 85,379,709 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	X	84,532,402 - 84,634,670 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	X	84,419,058 - 84,521,404 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	X	84,338,546 - 84,440,893	NCBI
Celera	X	84,771,759 - 84,874,115 (-)	NCBI
Cytogenetic Map	X	q21.1	NCBI
HuRef	X	78,105,395 - 78,207,259 (-)	NCBI		HuRef
CHM1_1	X	84,426,026 - 84,528,381 (-)	NCBI		CHM1_1

Pof1b
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	X	111,548,124 - 111,608,408 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	X	111,548,128 - 111,608,348 (-)	Ensembl
GRCm38	X	112,638,427 - 112,698,711 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	X	112,638,431 - 112,698,651 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	X	109,752,036 - 109,812,260 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	X	108,755,371 - 108,815,595 (-)	NCBI			mm8
Celera	X	99,259,694 - 99,319,351 (-)	NCBI		Celera
Cytogenetic Map	X	E1	NCBI

Pof1b
(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	77,683,128 - 77,749,827 (-)	NCBI
Rnor_6.0 Ensembl	X	84,099,618 - 84,167,717 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	X	84,099,618 - 84,167,717 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	X	84,048,665 - 84,115,822 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	X	101,220,259 - 101,288,788 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
Celera	X	78,983,162 - 79,047,222 (-)	NCBI		Celera
Cytogenetic Map	X	q31	NCBI

Pof1b
(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_004955529	4,136,480 - 4,224,537 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955529	4,137,746 - 4,224,542 (-)	NCBI	ChiLan1.0	ChiLan1.0

POF1B
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	X	84,457,716 - 84,554,569 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	X	84,457,716 - 84,554,627 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	X	74,347,322 - 74,444,182 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

POF1B
(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	66,233,225 - 66,342,297 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	X	66,214,255 - 66,342,904 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	X	56,990,661 - 57,099,614 (-)	NCBI
ROS_Cfam_1.0	X	67,569,114 - 67,673,467 (-)	NCBI
UMICH_Zoey_3.1	X	65,212,794 - 65,321,752 (-)	NCBI
UNSW_CanFamBas_1.0	X	66,849,598 - 66,958,554 (-)	NCBI
UU_Cfam_GSD_1.0	X	66,441,806 - 66,550,764 (-)	NCBI

Pof1b
(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	59,709,734 - 59,781,039 (-)	NCBI
SpeTri2.0	NW_004936547	6,031,281 - 6,101,451 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

POF1B
(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	68,503,179 - 68,579,893 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	X	68,503,170 - 68,579,917 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	X	78,325,924 - 78,402,665 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

POF1B
(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	74,126,425 - 74,234,330 (-)	NCBI

Pof1b
(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_004624852	3,022,251 - 3,136,807 (+)	NCBI

Position Markers

G65252

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,534,252 - 84,534,568	UniSTS	GRCh37
Build 36	X	84,420,908 - 84,421,224	RGD	NCBI36
Celera	X	84,773,616 - 84,773,932	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,107,250 - 78,107,566	UniSTS

G65264

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,570,613 - 84,570,869	UniSTS	GRCh37
Build 36	X	84,457,269 - 84,457,525	RGD	NCBI36
Celera	X	84,809,980 - 84,810,236	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,143,383 - 78,143,639	UniSTS

G65257

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,585,840 - 84,586,200	UniSTS	GRCh37
Build 36	X	84,472,496 - 84,472,856	RGD	NCBI36
Celera	X	84,825,207 - 84,825,567	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,158,401 - 78,158,761	UniSTS

G65265

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,600,787 - 84,601,265	UniSTS	GRCh37
Build 36	X	84,487,443 - 84,487,921	RGD	NCBI36
Celera	X	84,840,154 - 84,840,632	RGD
Cytogenetic Map	X	q21.2	UniSTS

G65256

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,606,254 - 84,606,548	UniSTS	GRCh37
Build 36	X	84,492,910 - 84,493,204	RGD	NCBI36
Celera	X	84,845,621 - 84,845,915	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,178,790 - 78,179,083	UniSTS

G65266

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,614,358 - 84,614,833	UniSTS	GRCh37
Build 36	X	84,501,014 - 84,501,489	RGD	NCBI36
Celera	X	84,853,726 - 84,854,201	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,187,140 - 78,187,615	UniSTS

G65271

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,622,531 - 84,622,952	UniSTS	GRCh37
Build 36	X	84,509,187 - 84,509,608	RGD	NCBI36
Celera	X	84,861,899 - 84,862,320	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,195,311 - 78,195,732	UniSTS

G65225

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,537,065 - 84,537,416	UniSTS	GRCh37
Build 36	X	84,423,721 - 84,424,072	RGD	NCBI36
Celera	X	84,776,429 - 84,776,780	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,110,063 - 78,110,414	UniSTS

G65275

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,558,304 - 84,558,680	UniSTS	GRCh37
Build 36	X	84,444,960 - 84,445,336	RGD	NCBI36
Celera	X	84,797,671 - 84,798,047	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,131,075 - 78,131,451	UniSTS

G65255

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,559,257 - 84,559,564	UniSTS	GRCh37
Build 36	X	84,445,913 - 84,446,220	RGD	NCBI36
Celera	X	84,798,624 - 84,798,931	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,132,028 - 78,132,335	UniSTS

G65268

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,560,694 - 84,561,105	UniSTS	GRCh37
Build 36	X	84,447,350 - 84,447,761	RGD	NCBI36
Celera	X	84,800,061 - 84,800,472	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,133,464 - 78,133,875	UniSTS

G65259

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,561,082 - 84,561,491	UniSTS	GRCh37
Build 36	X	84,447,738 - 84,448,147	RGD	NCBI36
Celera	X	84,800,449 - 84,800,858	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,133,852 - 78,134,261	UniSTS

G65260

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,562,953 - 84,563,360	UniSTS	GRCh37
Build 36	X	84,449,609 - 84,450,016	RGD	NCBI36
Celera	X	84,802,320 - 84,802,727	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,135,723 - 78,136,130	UniSTS

G65226

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,569,299 - 84,569,591	UniSTS	GRCh37
Build 36	X	84,455,955 - 84,456,247	RGD	NCBI36
Celera	X	84,808,666 - 84,808,958	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,142,069 - 78,142,361	UniSTS

AL022445

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,636,125 - 84,636,245	UniSTS	GRCh37
Build 36	X	84,522,781 - 84,522,901	RGD	NCBI36
Celera	X	84,875,492 - 84,875,612	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,208,636 - 78,208,756	UniSTS

DXS7672

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,569,422 - 84,569,598	UniSTS	GRCh37
Build 36	X	84,456,078 - 84,456,254	RGD	NCBI36
Celera	X	84,808,789 - 84,808,965	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,142,192 - 78,142,368	UniSTS

DXS7604

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,623,837 - 84,623,983	UniSTS	GRCh37
Build 36	X	84,510,493 - 84,510,639	RGD	NCBI36
Celera	X	84,863,205 - 84,863,351	RGD
Cytogenetic Map	X	q21.2	UniSTS
HuRef	X	78,196,617 - 78,196,763	UniSTS

POF1B__5741

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	X	84,532,216 - 84,533,137	UniSTS	GRCh37
Build 36	X	84,418,872 - 84,419,793	RGD	NCBI36
Celera	X	84,771,580 - 84,772,501	RGD
HuRef	X	78,105,216 - 78,106,135	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	597
Count of miRNA genes:	449
Interacting mature miRNAs:	484
Transcripts:	ENST00000262753, ENST00000373145
Prediction methods:	Microtar, Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

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

573

108

237

1301

180

106

696

Low

727

888

908

200

713

112

389

473

285

177

461

1231

447

161

Below cutoff

1120

1858

732

282

779

282

2441

1603

2895

131

770

209

744

1831

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NG_016358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001307940	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_024921	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005262203	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF309774	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI591162	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025039	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK025080	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026445	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK128541	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK225193	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK290360	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314295	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL117325	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC017500	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471104	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF459197	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF510683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z82216	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000262753 ⟹ ENSP00000262753

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	85,277,396 - 85,379,665 (-)	Ensembl

RefSeq Acc Id:

ENST00000373145 ⟹ ENSP00000362238

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	X	85,282,115 - 85,379,717 (-)	Ensembl

RefSeq Acc Id:

NM_001307940 ⟹ NP_001294869

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	85,282,115 - 85,379,665 (-)	NCBI
CHM1_1	X	84,430,752 - 84,528,381 (-)	NCBI

Sequence:

show sequence

ACCATTTCCTGGAGCAATGTCACAGGGTGGCTCCATTTTCCATTTGAGCTCAAATATTTTGCTG
CTTCCTCTGTAGCTGCCAGACCTGCTCTTGCTGCTGCTCAGGTAGAACATCTGGGAGGTCCCTT
GCTGACCACTGGAAGAAGATGAGCTCGAGCTATTGGAGTGAGACGAGCAGCAGCAGCTGTGGAA
CCCAGCAGCTCCCAGAGGTGCTGCAGTGCCAGCCCCAGCATTACCACTGCTACCATCAGTCAAG
CCAAGCCCAGCAGCCTCCAGAAAAAAATGTAGTGTATGAGCGAGTGAGGACCTACAGTGGGCCC
ATGAACAAGGTGGTGCAGGCCTTGGACCCCTTCAACTCACGGGAAGTGCTCTCCCCTCTCAAAA
CCACCTCCTCCTACCAAAATTTGGTTTGGAGCGACCATTCTCAGGAACTCCATTCTCCAACTTT
AAAAATATCTACATGTGCCCCAAGTACTCTACATATAACCCAAAATACTGAACAGGAACTTCAT
TCTCCAACAGTGAAACTTACTACATATCCACAGACCACTATTAGGAAATATGTAGTACAAAATC
CTGAACAGGAACCACTGTCTCAATTCCTAAGAGGAAGCCATTTCTTCCCAGGAAACAATGTTAT
TTATGAAAAAACAATAAGAAAAGTGGAGAAGCTAAATACTGATCAGGGGTGCCATCCTCAGGCT
CAATGCCATCATCACATTATCCAACAGCCCCAGGTCATCCACTCTGCACACTGGCAACAACCTG
ATTCTAGCCAGCAAATCCAAGCCATCACAGGAAATAATCCAATTTCTACACATATTGGAAATGA
ACTGTGCCATAGTGGATCAAGCCAGATTTGTGAGCAGGTGATAATTCAGGATGATGGCCCTGAA
AAATTGGACCCCAGATATTTTGGAGAGTTGCTTGCTGATCTGAGCCGTAAGAATACGGATCTAT
ATCACTGCTTATTAGAACATTTGCAGAGAATTGGAGGAAGCAAACAGGACTTTGAGTCTACAGA
TGAGTCGGAAGACATTGAATCATTGATTCCTAAAGGATTATCAGAGTTTACAAAACAGCAAATA
CGCTACATTCTGCAGATGAGGGGTATGTCTGATAAGTCACTCCGACTAGTGCTGTCCACATTTA
GCAACATACGGGAGGAGCTTGGACATCTTCAAAATGATATGACATCACTGGAAAATGACAAGAT
GAGACTTGAGAAAGATTTATCATTCAAAGACACTCAATTAAAAGAGTACGAAGAACTCTTGGCA
TCAGTGAGAGCAAATAATCACCAGCAGCAGCAAGGACTTCAAGACTCAAGTTCAAAATGCCAGG
CATTGGAAGAAAACAATCTCTCTCTTCGACATACACTATCAGACATGGAATACAGACTAAAAGA
ACTGGAATATTGTAAACGTAATTTAGAGCAAGAGAATCAAAACCTTAGAATGCAGGTTTCTGAG
ACTTGCACAGGCCCAATGTTGCAGGCTAAAATGGATGAGATTGGCAACCACTACACGGAGATGG
TAAAAAACTTGAGAATGGAGAAAGATAGAGAGATCTGCAGACTGAGGTCCCAATTAAACCAGTA
CCATAAAGATGTTTCAAAGAGAGAAGGAAGTTGTAGTGACTTCCAATTTAAGCTTCATGAACTG
ACAAGCTTGCTGGAAGAGAAGGATTCCCTCATAAAGCGTCAGTCAGAGGAACTCTCCAAGTTGC
GGCAAGAAATATATTCCTCTCATAACCAACCCTCCACTGGTGGAAGGACTACTATTACCACTAA
AAAGTACAGGACACAATATCCAATCCTAGGCCTCCTATATGATGACTACGAATATATACCACCA
GGTAGTGAAACACAGACTATTGTGATTGAGAAAACAGAAGACAAATACACTTGTGTAAGTTCAC
TTGGGCATTTTTAGCCCTATTTTGACGATATATGTACAGCCTTTTAAAATTGAGGTAAAATATC
AAATGAACTAAAAA

hide sequence

RefSeq Acc Id:

NM_024921 ⟹ NP_079197

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	85,277,396 - 85,379,665 (-)	NCBI
GRCh37	X	84,532,395 - 84,634,748 (-)	RGD
Build 36	X	84,419,058 - 84,521,404 (-)	NCBI Archive
Celera	X	84,771,759 - 84,874,115 (-)	RGD
HuRef	X	78,105,395 - 78,207,259 (-)	RGD
CHM1_1	X	84,426,026 - 84,528,381 (-)	NCBI

Sequence:

show sequence

ACCATTTCCTGGAGCAATGTCACAGGGTGGCTCCATTTTCCATTTGAGCTCAAATATTTTGCTG
CTTCCTCTGTAGCTGCCAGACCTGCTCTTGCTGCTGCTCAGGTAGAACATCTGGGAGGTCCCTT
GCTGACCACTGGAAGAAGATGAGCTCGAGCTATTGGAGTGAGACGAGCAGCAGCAGCTGTGGAA
CCCAGCAGCTCCCAGAGGTGCTGCAGTGCCAGCCCCAGCATTACCACTGCTACCATCAGTCAAG
CCAAGCCCAGCAGCCTCCAGAAAAAAATGTAGTGTATGAGCGAGTGAGGACCTACAGTGGGCCC
ATGAACAAGGTGGTGCAGGCCTTGGACCCCTTCAACTCACGGGAAGTGCTCTCCCCTCTCAAAA
CCACCTCCTCCTACCAAAATTTGGTTTGGAGCGACCATTCTCAGGAACTCCATTCTCCAACTTT
AAAAATATCTACATGTGCCCCAAGTACTCTACATATAACCCAAAATACTGAACAGGAACTTCAT
TCTCCAACAGTGAAACTTACTACATATCCACAGACCACTATTAGGAAATATGTAGTACAAAATC
CTGAACAGGAACCACTGTCTCAATTCCTAAGAGGAAGCCATTTCTTCCCAGGAAACAATGTTAT
TTATGAAAAAACAATAAGAAAAGTGGAGAAGCTAAATACTGATCAGGGGTGCCATCCTCAGGCT
CAATGCCATCATCACATTATCCAACAGCCCCAGGTCATCCACTCTGCACACTGGCAACAACCTG
ATTCTAGCCAGCAAATCCAAGCCATCACAGGAAATAATCCAATTTCTACACATATTGGAAATGA
ACTGTGCCATAGTGGATCAAGCCAGATTTGTGAGCAGGTGATAATTCAGGATGATGGCCCTGAA
AAATTGGACCCCAGATATTTTGGAGAGTTGCTTGCTGATCTGAGCCGTAAGAATACGGATCTAT
ATCACTGCTTATTAGAACATTTGCAGAGAATTGGAGGAAGCAAACAGGACTTTGAGTCTACAGA
TGAGTCGGAAGACATTGAATCATTGATTCCTAAAGGATTATCAGAGTTTACAAAACAGCAAATA
CGCTACATTCTGCAGATGAGGGGTATGTCTGATAAGTCACTCCGACTAGTGCTGTCCACATTTA
GCAACATACGGGAGGAGCTTGGACATCTTCAAAATGATATGACATCACTGGAAAATGACAAGAT
GAGACTTGAGAAAGATTTATCATTCAAAGACACTCAATTAAAAGAGTACGAAGAACTCTTGGCA
TCAGTGAGAGCAAATAATCACCAGCAGCAGCAAGGACTTCAAGACTCAAGTTCAAAATGCCAGG
CATTGGAAGAAAACAATCTCTCTCTTCGACATACACTATCAGACATGGAATACAGACTAAAAGA
ACTGGAATATTGTAAACGTAATTTAGAGCAAGAGAATCAAAACCTTAGAATGCAGGTTTCTGAG
ACTTGCACAGGCCCAATGTTGCAGGCTAAAATGGATGAGATTGGCAACCACTACACGGAGATGG
TAAAAAACTTGAGAATGGAGAAAGATAGAGAGATCTGCAGACTGAGGTCCCAATTAAACCAGTA
CCATAAAGATGTTTCAAAGAGAGAAGGAAGTTGTAGTGACTTCCAATTTAAGCTTCATGAACTG
ACAAGCTTGCTGGAAGAGAAGGATTCCCTCATAAAGCGTCAGTCAGAGGAACTCTCCAAGTTGC
GGCAAGAAATATATTCCTCTCATAACCAACCCTCCACTGGTGGAAGGACTACTATTACCACTAA
AAAGTACAGGACACAATATCCAATCCTAGGCCTCCTATATGATGACTACGAATATATACCACCA
GGTAGTGAAACACAGACTATTGTGATTGAGAAAACAGAAGACAAATACACTTGTCCATGAATGG
ATCCACTTTAAAGTATTACAACTCAAAGCCGTTTTTTTTTTGTGTGTGTGTCTCTGCATTAGTA
CTTTGTTATTTTTCCATCACTAAAGGCCAATCAGAATTTGGAACCATGCTGCTACCCAAGAAAT
CTAATGGAATGAATTAGTTCTGTAGATGACAATTTCTTCACCCATTTATGAGACCTAAATCTTT
TCCATAACACTCATGTATTCAGTATAACAACATACTAACTGAAAGAGGGACCTGATTGTTTAAA
GTTTGATTGCAGACACTGTAGAACATAACTCATTATGTTTCAGATAAGGTAACTCCTAGATATC
AAACTAATTTGTTGGGGTAGAGATTTTACAAGTCATGCCATTAGAAGATTTTCTCTGATATTAT
ATGTGCAGTTCAGTTACAAGATGAAATCATGTTTTTTTAACAAAAGAGATAAAATACAATTGAA
GCAAAAAATAACAGCTAGTATATAATATATACAGTCTGTATTTGCTTTTCACAGTAGGCCTGAT
GACTAAAAGATATGCTTTATTACACGCTATTTTCACCTCTTGAAAGTCAAAGGTGATGATTAAT
TTCATTTAGCAGGGAAGTGGAATAATATCTTTTGAAATAACTAAGTCCACTAAATTATACAGTA
TGCTATTCTGGTTCTAAGTACATATTAGTCCCTTGGCAAATCTGTTCTTTCAAAGCATACCTTC
CCCAAATGAGCCTACCTACTTCTTAAAAAACATATAACACAATGTGGTAGTAGTAGGTGTAAGG
AAGGTAAGTTTTTTCATAGTGGTATGCAAACATATCATTGAAATATTACATAGATATAAAGACT
TAGGGAATAAAAATAGCAGCAACAAATACTTGATAGATTTATCCTACTTGGGAGAAATATTTTG
TAGCAGAGTATTTAGTATACTTAGAAGTTGATTTAGCAATTAGGCTTTAATGACCTTACAAAGT
GAACATAACTGAACACAAGTATTTTTTCAATGCAAGATGAGGATGAAAATTTTACATTTCAACC
CATCTGGCTAAAGTTAAGACTTAGCAAAAATTAAAATGTTGCCTTTGTCCAAGTATAGATTAAG
GCAACAAACATATTTGGGTGTGTAATTTGAAGTTTTGGACTGAAATATCTTTGCAAGTATCCAC
ATAAAATTCTGTAATGCCTTATAATTATATTCTAATAATTATGCATTATACTAAGACACCATTA
AGAACAGTTGAGGCACTACACTAAATCAAACCATAAATGAGGAAAAAACTTTTAATGTTCTTTT
CTAGAAGTGTTCAAATAGGTCTTGATATGAAGCTAAAAGCCTTATTTATATTATCTTAATATTT
CGGCTAAAATGTTAAGCTCCATAACATGAATTGATACAATTCCAATTTTATCAATATTTTGTGA
TAGAAAAATGTTAATATTATTCATGAGCTATACAGTCCTTACATTTTTTCCCTTGGTGTAGGAA
CAACGGAGGAGTTTCTCCTCTGCTAACTATTCATATATGTAACTGTAACAAAAGTGTACTATGT
TATGCACACATTACAAATAATATAAGGGGAAGTTTTATTAGCTTAGTAGGAAATTGTTATTATT
AAGGTTTAAAAATGAGAACAGGTGTGAGTTTTCCAAAATACTTAAAAATAATAGTGTCAAAAAT
TCAGGGGCAGTTAAGGAGTCATGGATGGAACTAGAGGTCACTATATTAAGTGACATAAGCCAGA
AACAGACAAACATTGCATGTTCTCAATTATTTGCGGGATCTAAAAGTCAAAACAATTGAACTCA
TGGATATAGAGAGTAGAAGGATGGTTACTAGTGGCTGGGAAAAGGGGTGTGCGAGGGGAACTGG
GGATGCTTAATGTGTACAAAAACTATGTAGTTAGAAAGTATAAATAAGACCTAGTATTTGATAG
CACAACCGGGTGAGTATAGTCAATAATAGCTTAATTGTACAAATAACTAAGAGTATAATTGGAT
TGTTTGTAACACAAATAAATACTTGAGTGGATGGATACCCAATTA

hide sequence

RefSeq Acc Id:

XM_005262203 ⟹ XP_005262260

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	85,277,396 - 85,379,709 (-)	NCBI
GRCh37	X	84,532,395 - 84,634,748 (-)	NCBI

Sequence:

show sequence

ATTTTCCATTTGAGCTCAAATATTTTGCTGCTTCCTCTGTAGCTGCCAGACCTGCTCTTGCTGC
TGCTCAGGTAGAACATCTGGGAGGTCCCTTGCTGACCACTGGAAGAAGATGAGCTCGAGCTATT
GGAGTGAGACGAGCAGCAGCAGCTGTGGAACCCAGCAGCTCCCAGAGGTGCTGCAGTGCCAGCC
CCAGCATTACCACTGCTACCATCAGTCAAGCCAAGCCCAGCAGCCTCCAGAAAAAAATGTAGTG
TATGAGCGAGTGAGGACCTACAGTGGGCCCATGAACAAGGTGGTGCAGGCCTTGGACCCCTTCA
ACTCACGGGAAGTGCTCTCCCCTCTCAAAACCACCTCCTCCTACCAAAATTTGGTTTGGAGCGA
CCATTCTCAGGAACTCCATTCTCCAACTTTAAAAATATCTACATGTGCCCCAAGTACTCTACAT
ATAACCCAAAATACTGAACAGGAACTTCATTCTCCAACAGTGAAACTTACTACATATCCACAGA
CCACTATTAGGAAATATGTAGTACAAAATCCTGAACAGGAACCACTGTCTCAATTCCTAAGAGG
AAGCCATTTCTTCCCAGGAAACAATGTTATTTATGAAAAAACAATAAGAAAAGTGGAGAAGCTA
AATACTGATCAGCCCCAGGTCATCCACTCTGCACACTGGCAACAACCTGATTCTAGCCAGCAAA
TCCAAGCCATCACAGGAAATAATCCAATTTCTACACATATTGGAAATGAACTGTGCCATAGTGG
ATCAAGCCAGATTTGTGAGCAGGTGATAATTCAGGATGATGGCCCTGAAAAATTGGACCCCAGA
TATTTTGGAGAGTTGCTTGCTGATCTGAGCCGTAAGAATACGGATCTATATCACTGCTTATTAG
AACATTTGCAGAGAATTGGAGGAAGCAAACAGGACTTTGAGTCTACAGATGAGTCGGAAGACAT
TGAATCATTGATTCCTAAAGGATTATCAGAGTTTACAAAACAGCAAATACGCTACATTCTGCAG
ATGAGGGGTATGTCTGATAAGTCACTCCGACTAGTGCTGTCCACATTTAGCAACATACGGGAGG
AGCTTGGACATCTTCAAAATGATATGACATCACTGGAAAATGACAAGATGAGACTTGAGAAAGA
TTTATCATTCAAAGACACTCAATTAAAAGAGTACGAAGAACTCTTGGCATCAGTGAGAGCAAAT
AATCACCAGCAGCAGCAAGGACTTCAAGACTCAAGTTCAAAATGCCAGGCATTGGAAGAAAACA
ATCTCTCTCTTCGACATACACTATCAGACATGGAATACAGACTAAAAGAACTGGAATATTGTAA
ACGTAATTTAGAGCAAGAGAATCAAAACCTTAGAATGCAGGTTTCTGAGACTTGCACAGGCCCA
ATGTTGCAGGCTAAAATGGATGAGATTGGCAACCACTACACGGAGATGGTAAAAAACTTGAGAA
TGGAGAAAGATAGAGAGATCTGCAGACTGAGGTCCCAATTAAACCAGTACCATAAAGATGTTTC
AAAGAGAGAAGGAAGTTGTAGTGACTTCCAATTTAAGCTTCATGAACTGACAAGCTTGCTGGAA
GAGAAGGATTCCCTCATAAAGCGTCAGTCAGAGGAACTCTCCAAGTTGCGGCAAGAAATATATT
CCTCTCATAACCAACCCTCCACTGGTGGAAGGACTACTATTACCACTAAAAAGTACAGGACACA
ATATCCAATCCTAGGCCTCCTATATGATGACTACGAATATATACCACCAGGTAGTGAAACACAG
ACTATTGTGATTGAGAAAACAGAAGACAAATACACTTGTCCATGAATGGATCCACTTTAAAGTA
TTACAACTCAAAGCCGTTTTTTTTTTGTGTGTGTGTCTCTGCATTAGTACTTTGTTATTTTTCC
ATCACTAAAGGCCAATCAGAATTTGGAACCATGCTGCTACCCAAGAAATCTAATGGAATGAATT
AGTTCTGTAGATGACAATTTCTTCACCCATTTATGAGACCTAAATCTTTTCCATAACACTCATG
TATTCAGTATAACAACATACTAACTGAAAGAGGGACCTGATTGTTTAAAGTTTGATTGCAGACA
CTGTAGAACATAACTCATTATGTTTCAGATAAGGTAACTCCTAGATATCAAACTAATTTGTTGG
GGTAGAGATTTTACAAGTCATGCCATTAGAAGATTTTCTCTGATATTATATGTGCAGTTCAGTT
ACAAGATGAAATCATGTTTTTTTAACAAAAGAGATAAAATACAATTGAAGCAAAAAATAACAGC
TAGTATATAATATATACAGTCTGTATTTGCTTTTCACAGTAGGCCTGATGACTAAAAGATATGC
TTTATTACACGCTATTTTCACCTCTTGAAAGTCAAAGGTGATGATTAATTTCATTTAGCAGGGA
AGTGGAATAATATCTTTTGAAATAACTAAGTCCACTAAATTATACAGTATGCTATTCTGGTTCT
AAGTACATATTAGTCCCTTGGCAAATCTGTTCTTTCAAAGCATACCTTCCCCAAATGAGCCTAC
CTACTTCTTAAAAAACATATAACACAATGTGGTAGTAGTAGGTGTAAGGAAGGTAAGTTTTTTC
ATAGTGGTATGCAAACATATCATTGAAATATTACATAGATATAAAGACTTAGGGAATAAAAATA
GCAGCAACAAATACTTGATAGATTTATCCTACTTGGGAGAAATATTTTGTAGCAGAGTATTTAG
TATACTTAGAAGTTGATTTAGCAATTAGGCTTTAATGACCTTACAAAGTGAACATAACTGAACA
CAAGTATTTTTTCAATGCAAGATGAGGATGAAAATTTTACATTTCAACCCATCTGGCTAAAGTT
AAGACTTAGCAAAAATTAAAATGTTGCCTTTGTCCAAGTATAGATTAAGGCAACAAACATATTT
GGGTGTGTAATTTGAAGTTTTGGACTGAAATATCTTTGCAAGTATCCACATAAAATTCTGTAAT
GCCTTATAATTATATTCTAATAATTATGCATTATACTAAGACACCATTAAGAACAGTTGAGGCA
CTACACTAAATCAAACCATAAATGAGGAAAAAACTTTTAATGTTCTTTTCTAGAAGTGTTCAAA
TAGGTCTTGATATGAAGCTAAAAGCCTTATTTATATTATCTTAATATTTCGGCTAAAATGTTAA
GCTCCATAACATGAATTGATACAATTCCAATTTTATCAATATTTTGTGATAGAAAAATGTTAAT
ATTATTCATGAGCTATACAGTCCTTACATTTTTTCCCTTGGTGTAGGAACAACGGAGGAGTTTC
TCCTCTGCTAACTATTCATATATGTAACTGTAACAAAAGTGTACTATGTTATGCACACATTACA
AATAATATAAGGGGAAGTTTTATTAGCTTAGTAGGAAATTGTTATTATTAAGGTTTAAAAATGA
GAACAGGTGTGAGTTTTCCAAAATACTTAAAAATAATAGTGTCAAAAATTCAGGGGCAGTTAAG
GAGTCATGGATGGAACTAGAGGTCACTATATTAAGTGACATAAGCCAGAAACAGACAAACATTG
CATGTTCTCAATTATTTGCGGGATCTAAAAGTCAAAACAATTGAACTCATGGATATAGAGAGTA
GAAGGATGGTTACTAGTGGCTGGGAAAAGGGGTGTGCGAGGGGAACTGGGGATGCTTAATGTGT
ACAAAAACTATGTAGTTAGAAAGTATAAATAAGACCTAGTATTTGATAGCACAACCGGGTGAGT
ATAGTCAATAATAGCTTAATTGTACAAATAACTAAGAGTATAATTGGATTGTTTGTAACACAAA
TAAATACTTGAGTGGATGGATA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001294869	(Get FASTA)	NCBI Sequence Viewer
	NP_079197	(Get FASTA)	NCBI Sequence Viewer
	XP_005262260	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH17500	(Get FASTA)	NCBI Sequence Viewer
	AAM93270	(Get FASTA)	NCBI Sequence Viewer
	BAB15055	(Get FASTA)	NCBI Sequence Viewer
	BAB15061	(Get FASTA)	NCBI Sequence Viewer
	BAB15485	(Get FASTA)	NCBI Sequence Viewer
	BAF83049	(Get FASTA)	NCBI Sequence Viewer
	BAG36950	(Get FASTA)	NCBI Sequence Viewer
	EAW98560	(Get FASTA)	NCBI Sequence Viewer
	EAW98561	(Get FASTA)	NCBI Sequence Viewer
	EAW98562	(Get FASTA)	NCBI Sequence Viewer
	Q8WVV4	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:	NP_079197 ⟸ NM_024921
- Peptide Label:	isoform 1
- UniProtKB:	Q8WVV4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQ ALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKL TTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHI IQQPQVIHSAHWQQPDSSQQIQAITGNNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRY FGELLADLSRKNTDLYHCLLEHLQRIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQM RGMSDKSLRLVLSTFSNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEELLASVRANN HQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPM LQAKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTSLLEE KDSLIKRQSEELSKLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQT IVIEKTEDKYTCP hide sequence

RefSeq Acc Id:

XP_005262260 ⟸ XM_005262203

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQ
ALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKL
TTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQPQVIHSAHWQQP
DSSQQIQAITGNNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRYFGELLADLSRKNTDL
YHCLLEHLQRIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQMRGMSDKSLRLVLSTF
SNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEELLASVRANNHQQQQGLQDSSSKCQ
ALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPMLQAKMDEIGNHYTEM
VKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTSLLEEKDSLIKRQSEELSKL
RQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQTIVIEKTEDKYTCP

hide sequence

RefSeq Acc Id:	NP_001294869 ⟸ NM_001307940
- Peptide Label:	isoform 2
- UniProtKB:	Q8WVV4 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSSSYWSETSSSSCGTQQLPEVLQCQPQHYHCYHQSSQAQQPPEKNVVYERVRTYSGPMNKVVQ ALDPFNSREVLSPLKTTSSYQNLVWSDHSQELHSPTLKISTCAPSTLHITQNTEQELHSPTVKL TTYPQTTIRKYVVQNPEQEPLSQFLRGSHFFPGNNVIYEKTIRKVEKLNTDQGCHPQAQCHHHI IQQPQVIHSAHWQQPDSSQQIQAITGNNPISTHIGNELCHSGSSQICEQVIIQDDGPEKLDPRY FGELLADLSRKNTDLYHCLLEHLQRIGGSKQDFESTDESEDIESLIPKGLSEFTKQQIRYILQM RGMSDKSLRLVLSTFSNIREELGHLQNDMTSLENDKMRLEKDLSFKDTQLKEYEELLASVRANN HQQQQGLQDSSSKCQALEENNLSLRHTLSDMEYRLKELEYCKRNLEQENQNLRMQVSETCTGPM LQAKMDEIGNHYTEMVKNLRMEKDREICRLRSQLNQYHKDVSKREGSCSDFQFKLHELTSLLEE KDSLIKRQSEELSKLRQEIYSSHNQPSTGGRTTITTKKYRTQYPILGLLYDDYEYIPPGSETQT IVIEKTEDKYTCVSSLGHF hide sequence

RefSeq Acc Id:

ENSP00000362238 ⟸ ENST00000373145

RefSeq Acc Id:

ENSP00000262753 ⟸ ENST00000262753

Promoters

RGD ID:

6808711

Promoter ID:

HG_KWN:67400

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562, Lymphoblastoid

Transcripts:

ENST00000276124, ENST00000373149, ENST00000395380, NM_024921, OTTHUMT00000057393, UC004EES.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	X	84,521,054 - 84,521,554 (-)	MPROMDB

RGD ID:

13627564

Promoter ID:

EPDNEW_H29057

Type:

initiation region

Name:

POF1B_1

Description:

premature ovarian failure, 1B

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	X	85,379,665 - 85,379,725	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_024921.4(POF1B):c.986G>A (p.Arg329Gln)	single nucleotide variant	Premature ovarian failure 2b [RCV000011541]\|Premature ovarian insufficiency [RCV000626964]\|not provided [RCV000953408]	ChrX:85308188 [GRCh38] ChrX:84563194 [GRCh37] ChrX:Xq21.1	pathogenic\|likely pathogenic\|benign\|conflicting interpretations of pathogenicity\|uncertain significance
NM_024921.3(POF1B):c.854+4156G>T	single nucleotide variant	Lung cancer [RCV000102850]	ChrX:85326793 [GRCh38] ChrX:84581799 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x3	copy number gain	See cases [RCV000050810]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:3092486-155699618)x2	copy number gain	See cases [RCV000050889]	ChrX:3092486..155699618 [GRCh38] ChrX:3010527..154929279 [GRCh37] ChrX:3020527..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20140-155699618)x1	copy number loss	See cases [RCV000050811]	ChrX:20140..155699618 [GRCh38] ChrX:70140..154929279 [GRCh37] ChrX:10140..154582473 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:79372269-91308122)x1	copy number loss	See cases [RCV000050772]	ChrX:79372269..91308122 [GRCh38] ChrX:78627766..90563121 [GRCh37] ChrX:78514422..90449777 [NCBI36] ChrX:Xq21.1-21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000050385]\|See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	Global developmental delay [RCV000050386]\|See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000050697]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000050699]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xp11.21-q28(chrX:57372584-155996431)x1	copy number loss	See cases [RCV000051665]	ChrX:57372584..155996431 [GRCh38] ChrX:57399017..155226096 [GRCh37] ChrX:57415742..154879290 [NCBI36] ChrX:Xp11.21-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:63279794-155939524)x1	copy number loss	See cases [RCV000051666]	ChrX:63279794..155939524 [GRCh38] ChrX:62499671..155169188 [GRCh37] ChrX:62416396..154822382 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762602-86457999)x1	copy number loss	See cases [RCV000051707]	ChrX:81762602..86457999 [GRCh38] ChrX:81018101..85713002 [GRCh37] ChrX:80904757..85599658 [NCBI36] ChrX:Xq21.1-21.2	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81765008-86444979)x0	copy number loss	See cases [RCV000051709]	ChrX:81765008..86444979 [GRCh38] ChrX:81020507..85699982 [GRCh37] ChrX:80907163..85586638 [NCBI36] ChrX:Xq21.1-21.2	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:77544283-110500317)x1	copy number loss	See cases [RCV000051668]	ChrX:77544283..110500317 [GRCh38] ChrX:76799762..109743545 [GRCh37] ChrX:76686418..109630201 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:80329330-86150446)x1	copy number loss	See cases [RCV000051670]	ChrX:80329330..86150446 [GRCh38] ChrX:79584829..85405450 [GRCh37] ChrX:79471485..85292106 [NCBI36] ChrX:Xq21.1-21.2	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81762601-86471468)x1	copy number loss	See cases [RCV000051673]	ChrX:81762601..86471468 [GRCh38] ChrX:81018100..85726471 [GRCh37] ChrX:80904756..85613127 [NCBI36] ChrX:Xq21.1-21.2	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 Xq13.2-27.1(chrX:73008114-140201321)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052418]\|See cases [RCV000052418]	ChrX:73008114..140201321 [GRCh38] ChrX:72227953..139283477 [GRCh37] ChrX:72144678..139111143 [NCBI36] ChrX:Xq13.2-27.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40704-156022362)x3	copy number gain	See cases [RCV000052325]	ChrX:40704..156022362 [GRCh38] ChrX:90704..155252027 [GRCh37] ChrX:30704..154905221 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-25(chrX:81261589-126519353)x3	copy number gain	See cases [RCV000052438]	ChrX:81261589..126519353 [GRCh38] ChrX:80517088..125653336 [GRCh37] ChrX:80403744..125481017 [NCBI36] ChrX:Xq21.1-25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	Global developmental delay [RCV000052986]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|Intellectual functioning disability [RCV000052988]\|Global developmental delay [RCV000052989]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052987]\|See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q22.1(chrX:675360-100368517)x1	copy number loss	See cases [RCV000053005]	ChrX:675360..100368517 [GRCh38] ChrX:636095..99623515 [GRCh37] ChrX:556095..99510171 [NCBI36] ChrX:Xp22.33-q22.1	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	Hypoplastic left heart [RCV000052982]\|See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	Global developmental delay [RCV000052984]\|Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052985]\|See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022826)x4	copy number gain	See cases [RCV000133654]	ChrX:10679..156022826 [GRCh38] ChrX:60679..155252491 [GRCh37] ChrX:679..154905685 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-155978689)x1	copy number loss	See cases [RCV000133792]	ChrX:10701..155978689 [GRCh38] ChrX:60701..155208354 [GRCh37] ChrX:701..154861548 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x3	copy number gain	See cases [RCV000050385]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156013167)x1	copy number loss	See cases [RCV000050386]	ChrX:10679..156013167 [GRCh38] ChrX:60679..155242832 [GRCh37] ChrX:679..154896026 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x1	copy number loss	See cases [RCV000052986]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:26102-155996431)x3	copy number gain	See cases [RCV000052984]	ChrX:26102..155996431 [GRCh38] ChrX:76102..155226096 [GRCh37] ChrX:16102..154879290 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:14245-155999293)x1	copy number loss	See cases [RCV000052982]	ChrX:14245..155999293 [GRCh38] ChrX:64245..155228958 [GRCh37] ChrX:4245..154882152 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:85123740-156022206)x3	copy number gain	See cases [RCV000133744]	ChrX:85123740..156022206 [GRCh38] ChrX:84378746..155251871 [GRCh37] ChrX:84265402..154905065 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-155999253)x3	copy number gain	See cases [RCV000134564]	ChrX:20297..155999253 [GRCh38] ChrX:70297..155228918 [GRCh37] ChrX:10297..154882112 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	copy number loss	See cases [RCV000134570]	ChrX:78605009..156016560 [GRCh38] ChrX:77860506..155246225 [GRCh37] ChrX:77747162..154899419 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003242)x1	copy number loss	See cases [RCV000133947]	ChrX:10701..156003242 [GRCh38] ChrX:60701..155232907 [GRCh37] ChrX:701..154886101 [NCBI36] ChrX:Xp22.33-q28	pathogenic\|conflicting interpretations of pathogenicity\|conflicting data from submitters
GRCh38/hg38 Xq11.1-28(chrX:62712230-155978888)x3	copy number gain	See cases [RCV000134025]	ChrX:62712230..155978888 [GRCh38] ChrX:61931700..155208553 [GRCh37] ChrX:61848425..154861747 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:37076284-156016920)x1	copy number loss	See cases [RCV000135300]	ChrX:37076284..156016920 [GRCh38] ChrX:37094357..155246585 [GRCh37] ChrX:37004278..154899779 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156026127)x1	copy number loss	See cases [RCV000135321]	ChrX:20297..156026127 [GRCh38] ChrX:70297..155255792 [GRCh37] ChrX:10297..154908986 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	copy number loss	See cases [RCV000135306]	ChrX:53985575..92203108 [GRCh38] ChrX:54012008..91458107 [GRCh37] ChrX:54028733..91344763 [NCBI36] ChrX:Xp11.22-q21.31	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:81930916-85965282)x1	copy number loss	See cases [RCV000135328]	ChrX:81930916..85965282 [GRCh38] ChrX:81186415..85220287 [GRCh37] ChrX:81073071..85106943 [NCBI36] ChrX:Xq21.1-21.2	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74510116-156022206)x1	copy number loss	See cases [RCV000134958]	ChrX:74510116..156022206 [GRCh38] ChrX:73729951..155251871 [GRCh37] ChrX:73646676..154905065 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp21.1-q28(chrX:36237706-156022206)x1	copy number loss	See cases [RCV000135552]	ChrX:36237706..156022206 [GRCh38] ChrX:36255823..155251871 [GRCh37] ChrX:36165744..154905065 [NCBI36] ChrX:Xp21.1-q28	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:77369933-156013167)x1	copy number loss	See cases [RCV000135454]	ChrX:77369933..156013167 [GRCh38] ChrX:76634813..155242832 [GRCh37] ChrX:76507069..154896026 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x1	copy number loss	See cases [RCV000136097]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:40904-155998166)x1	copy number loss	See cases [RCV000136478]	ChrX:40904..155998166 [GRCh38] ChrX:90904..155227831 [GRCh37] ChrX:30904..154881025 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-28(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 Xp22.33-q25(chrX:10701-128393708)	copy number loss	See cases [RCV000136094]	ChrX:10701..128393708 [GRCh38] ChrX:60701..127527686 [GRCh37] ChrX:701..127355367 [NCBI36] ChrX:Xp22.33-q25	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10001-156030895)x1	copy number loss	See cases [RCV000136005]	ChrX:10001..156030895 [GRCh38] ChrX:60001..155260560 [GRCh37] ChrX:1..154913754 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:75086417-156022206)x1	copy number loss	See cases [RCV000137113]	ChrX:75086417..156022206 [GRCh38] ChrX:74306252..155251871 [GRCh37] ChrX:74222977..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2782275-155611794)x2	copy number gain	See cases [RCV000136841]	ChrX:2782275..155611794 [GRCh38] ChrX:2700316..154785891 [GRCh37] ChrX:2710316..154494649 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2765636-155522304)x3	copy number gain	See cases [RCV000136791]	ChrX:2765636..155522304 [GRCh38] ChrX:2683677..154751965 [GRCh37] ChrX:2693677..154405159 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq11.1-28(chrX:62561604-156003242)x3	copy number gain	See cases [RCV000137553]	ChrX:62561604..156003242 [GRCh38] ChrX:61781074..155232907 [GRCh37] ChrX:61697799..154886101 [NCBI36] ChrX:Xq11.1-28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76604011-156022206)x1	copy number loss	See cases [RCV000137138]	ChrX:76604011..156022206 [GRCh38] ChrX:75824420..155251871 [GRCh37] ChrX:75740824..154905065 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp11.23-q22.1(chrX:49100536-102174742)x1	copy number loss	See cases [RCV000137414]	ChrX:49100536..102174742 [GRCh38] ChrX:48957474..101429714 [GRCh37] ChrX:48844418..101316370 [NCBI36] ChrX:Xp11.23-q22.1	pathogenic\|likely benign
GRCh38/hg38 Xp22.33-q22.3(chrX:10701-106113403)x1	copy number loss	See cases [RCV000137886]	ChrX:10701..106113403 [GRCh38] ChrX:60701..105357395 [GRCh37] ChrX:701..105244051 [NCBI36] ChrX:Xp22.33-q22.3	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:79911061-156003229)x1	copy number loss	See cases [RCV000138787]	ChrX:79911061..156003229 [GRCh38] ChrX:79166568..155232894 [GRCh37] ChrX:79053224..154886088 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.2-q27.3(chrX:13020141-143473520)x1	copy number loss	See cases [RCV000138678]	ChrX:13020141..143473520 [GRCh38] ChrX:13038260..142561303 [GRCh37] ChrX:12948181..142388969 [NCBI36] ChrX:Xp22.2-q27.3	pathogenic
GRCh38/hg38 Xq21.1-28(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 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-q21.31(chrX:10701-88318651)x1	copy number loss	See cases [RCV000139352]	ChrX:10701..88318651 [GRCh38] ChrX:60701..87573652 [GRCh37] ChrX:701..87460308 [NCBI36] ChrX:Xp22.33-q21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004181)x3	copy number gain	See cases [RCV000139888]	ChrX:251880..156004181 [GRCh38] ChrX:168547..155233846 [GRCh37] ChrX:108547..154887040 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq21.1-21.31(chrX:80722314-92152619)x0	copy number loss	See cases [RCV000139635]	ChrX:80722314..92152619 [GRCh38] ChrX:79977813..91407618 [GRCh37] ChrX:79864469..91294274 [NCBI36] ChrX:Xq21.1-21.31	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:2299223-155992188)x3	copy number gain	See cases [RCV000141400]	ChrX:2299223..155992188 [GRCh38] ChrX:2217264..155221853 [GRCh37] ChrX:2227264..154875047 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:20297-156016920)x3	copy number gain	See cases [RCV000141401]	ChrX:20297..156016920 [GRCh38] ChrX:70297..155246585 [GRCh37] ChrX:10297..154899779 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x4	copy number gain	See cases [RCV000140786]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x1	copy number loss	See cases [RCV000140787]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic\|conflicting data from submitters
GRCh38/hg38 Xq21.1-28(chrX:82096719-156004066)x1	copy number loss	See cases [RCV000141825]	ChrX:82096719..156004066 [GRCh38] ChrX:81352168..155233731 [GRCh37] ChrX:81238824..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp11.22-q24(chrX:50289384-119297604)	copy number loss	See cases [RCV000141742]	ChrX:50289384..119297604 [GRCh38] ChrX:50032384..118431567 [GRCh37] ChrX:50049124..118315595 [NCBI36] ChrX:Xp11.22-q24	pathogenic
GRCh38/hg38 Xq21.1-23(chrX:81109470-109442793)x1	copy number loss	See cases [RCV000142372]	ChrX:81109470..109442793 [GRCh38] ChrX:80364969..108686022 [GRCh37] ChrX:80251625..108572678 [NCBI36] ChrX:Xq21.1-23	pathogenic
GRCh38/hg38 Xq21.1-28(chrX:78187188-156004066)x1	copy number loss	See cases [RCV000142337]	ChrX:78187188..156004066 [GRCh38] ChrX:77442685..155233731 [GRCh37] ChrX:77329341..154886925 [NCBI36] ChrX:Xq21.1-28	pathogenic
GRCh38/hg38 Xp22.33-q24(chrX:251879-118847157)x3	copy number gain	See cases [RCV000142134]	ChrX:251879..118847157 [GRCh38] ChrX:168546..117981120 [GRCh37] ChrX:108546..117865148 [NCBI36] ChrX:Xp22.33-q24	pathogenic
GRCh38/hg38 Xq21.1-21.2(chrX:85089622-85949735)x2	copy number gain	See cases [RCV000143106]	ChrX:85089622..85949735 [GRCh38] ChrX:84344628..85204740 [GRCh37] ChrX:84231284..85091396 [NCBI36] ChrX:Xq21.1-21.2	uncertain significance
GRCh38/hg38 Xp22.33-q28(chrX:10701-156003229)x3	copy number gain	See cases [RCV000142625]	ChrX:10701..156003229 [GRCh38] ChrX:60701..155232894 [GRCh37] ChrX:701..154886088 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.2-28(chrX:74684615-156004066)x1	copy number loss	See cases [RCV000143424]	ChrX:74684615..156004066 [GRCh38] ChrX:73904450..155233731 [GRCh37] ChrX:73821175..154886925 [NCBI36] ChrX:Xq13.2-28	pathogenic
GRCh38/hg38 Xp11.22-q28(chrX:53144751-156003242)x1	copy number loss	See cases [RCV000143349]	ChrX:53144751..156003242 [GRCh38] ChrX:53321095..155232907 [GRCh37] ChrX:53190658..154886101 [NCBI36] ChrX:Xp11.22-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x1	copy number loss	See cases [RCV000143441]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:108546..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251879-156004066)x3	copy number gain	See cases [RCV000143433]	ChrX:251879..156004066 [GRCh38] ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:251880-156004066)x3	copy number gain	See cases [RCV000143219]	ChrX:251880..156004066 [GRCh38] ChrX:168547..155233731 [GRCh37] ChrX:108547..154886925 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xq13.3-28(chrX:76557425-156004066)x1	copy number loss	See cases [RCV000143132]	ChrX:76557425..156004066 [GRCh38] ChrX:75777833..155233731 [GRCh37] ChrX:75694237..154886925 [NCBI36] ChrX:Xq13.3-28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x3	copy number gain	See cases [RCV000148141]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh38/hg38 Xp22.33-q28(chrX:10679-156022206)x1	copy number loss	See cases [RCV000148135]	ChrX:10679..156022206 [GRCh38] ChrX:60679..155251871 [GRCh37] ChrX:679..154905065 [NCBI36] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	copy number gain	See cases [RCV000240122]	ChrX:71267..155246643 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	copy number gain	See cases [RCV000240143]	ChrX:62063537..155246643 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	copy number gain	See cases [RCV000239843]	ChrX:176426..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	copy number loss	See cases [RCV000239832]	ChrX:71267..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	copy number gain	See cases [RCV000239798]	ChrX:13147668..155250222 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	copy number gain	See cases [RCV000239934]	ChrX:70297..155255839 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	copy number gain	See cases [RCV000240106]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:553069-155233731)x1	copy number loss	See cases [RCV000446026]	ChrX:553069..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	copy number loss	See cases [RCV000239902]	ChrX:71267..155224766 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	copy number gain	See cases [RCV000239989]	ChrX:60701..155246271 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	copy number gain	See cases [RCV000239874]	ChrX:71267..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	copy number gain	See cases [RCV000240552]	ChrX:176426..155236656 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	copy number gain	See cases [RCV000240314]	ChrX:150002..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	copy number gain	See cases [RCV000240464]	ChrX:225816..155234036 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	copy number gain	See cases [RCV000240148]	ChrX:62063537..155250222 [GRCh37] ChrX:Xq11.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	copy number gain	See cases [RCV000240541]	ChrX:2707626..155250222 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_024921.4(POF1B):c.1371C>G (p.Gly457=)	single nucleotide variant	Premature ovarian failure 2b [RCV000271839]	ChrX:85305857 [GRCh38] ChrX:84560863 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*835C>T	single nucleotide variant	Premature ovarian failure 2b [RCV000273063]	ChrX:85278586 [GRCh38] ChrX:84533592 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.1572C>G (p.Leu524=)	single nucleotide variant	Premature ovarian failure 2b [RCV000306993]	ChrX:85303483 [GRCh38] ChrX:84558489 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*1686G>T	single nucleotide variant	Premature ovarian failure 2b [RCV000355998]	ChrX:85277735 [GRCh38] ChrX:84532741 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*42T>G	single nucleotide variant	Premature ovarian failure 2b [RCV000360702]	ChrX:85279379 [GRCh38] ChrX:84534385 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*1380T>G	single nucleotide variant	Premature ovarian failure 2b [RCV000361609]	ChrX:85278041 [GRCh38] ChrX:84533047 [GRCh37] ChrX:Xq21.1	benign\|uncertain significance
NM_024921.4(POF1B):c.1374C>T (p.Asn458=)	single nucleotide variant	Premature ovarian failure 2b [RCV000366410]\|not provided [RCV000962899]	ChrX:85305854 [GRCh38] ChrX:84560860 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.1045A>T (p.Met349Leu)	single nucleotide variant	Premature ovarian failure 2b [RCV000367385]	ChrX:85308129 [GRCh38] ChrX:84563135 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.716G>C (p.Cys239Ser)	single nucleotide variant	Premature ovarian failure 2b [RCV000277647]\|not provided [RCV000973062]	ChrX:85345867 [GRCh38] ChrX:84600873 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*368G>T	single nucleotide variant	Premature ovarian failure 2b [RCV000279213]	ChrX:85279053 [GRCh38] ChrX:84534059 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.-61C>T	single nucleotide variant	Premature ovarian failure 2b [RCV000318211]	ChrX:85379658 [GRCh38] ChrX:84634663 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*44T>G	single nucleotide variant	Premature ovarian failure 2b [RCV000305986]	ChrX:85279377 [GRCh38] ChrX:84534383 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.113A>C (p.Gln38Pro)	single nucleotide variant	Premature ovarian failure 2b [RCV000281980]\|not provided [RCV000974339]	ChrX:85379342 [GRCh38] ChrX:84634347 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.619C>T (p.Pro207Ser)	single nucleotide variant	Premature ovarian failure 2b [RCV000371822]\|not provided [RCV000968808]	ChrX:85345964 [GRCh38] ChrX:84600970 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.1644T>C (p.Thr548=)	single nucleotide variant	Premature ovarian failure 2b [RCV000401532]	ChrX:85303411 [GRCh38] ChrX:84558417 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*1112G>A	single nucleotide variant	Premature ovarian failure 2b [RCV000327061]	ChrX:85278309 [GRCh38] ChrX:84533315 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*775G>T	single nucleotide variant	Premature ovarian failure 2b [RCV000328176]	ChrX:85278646 [GRCh38] ChrX:84533652 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.1300C>A (p.Gln434Lys)	single nucleotide variant	Premature ovarian failure 2b [RCV000331348]	ChrX:85306198 [GRCh38] ChrX:84561204 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.641A>G (p.Gln214Arg)	single nucleotide variant	Premature ovarian failure 2b [RCV000332657]	ChrX:85345942 [GRCh38] ChrX:84600948 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*1019C>A	single nucleotide variant	Premature ovarian failure 2b [RCV000381627]	ChrX:85278402 [GRCh38] ChrX:84533408 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*352A>G	single nucleotide variant	Premature ovarian failure 2b [RCV000334327]	ChrX:85279069 [GRCh38] ChrX:84534075 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*755G>A	single nucleotide variant	Premature ovarian failure 2b [RCV000387576]	ChrX:85278666 [GRCh38] ChrX:84533672 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*669T>C	single nucleotide variant	Premature ovarian failure 2b [RCV000293176]	ChrX:85278752 [GRCh38] ChrX:84533758 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*584A>C	single nucleotide variant	Premature ovarian failure 2b [RCV000388715]	ChrX:85278837 [GRCh38] ChrX:84533843 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*132T>C	single nucleotide variant	Premature ovarian failure 2b [RCV000341068]	ChrX:85279289 [GRCh38] ChrX:84534295 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*312A>C	single nucleotide variant	Premature ovarian failure 2b [RCV000396077]	ChrX:85279109 [GRCh38] ChrX:84534115 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.44_45insG	insertion	Premature ovarian failure 2b [RCV000396087]	ChrX:85279376..85279377 [GRCh38] ChrX:84534382..84534383 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*268T>G	single nucleotide variant	Premature ovarian failure 2b [RCV000300224]	ChrX:85279153 [GRCh38] ChrX:84534159 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*635T>C	single nucleotide variant	Premature ovarian failure 2b [RCV000352843]	ChrX:85278786 [GRCh38] ChrX:84533792 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	copy number gain	not provided [RCV000488046]	ChrX:11692290..121187337 [GRCh37] ChrX:Xp22.2-q25	uncertain significance
NM_001330574.2(ZNF711):c.*1411G>A	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000336262]\|Premature ovarian failure 2b [RCV000323479]\|ZNF711-Related X-linked Mental Retardation [RCV001168457]	ChrX:85273239 [GRCh38] ChrX:84528245 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_001330574.2(ZNF711):c.*632A>G	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000349795]\|Premature ovarian failure 2b [RCV000358346]\|ZNF711-Related X-linked Mental Retardation [RCV001168454]	ChrX:85272460 [GRCh38] ChrX:84527466 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*1849G>A	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000382782]\|Premature ovarian failure 2b [RCV000402392]	ChrX:85277572 [GRCh38] ChrX:84532578 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*1626G>A	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000327426]\|Premature ovarian failure 2b [RCV000265713]	ChrX:85277795 [GRCh38] ChrX:84532801 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*1173C>A	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000292246]\|Premature ovarian failure 2b [RCV000267025]	ChrX:85278248 [GRCh38] ChrX:84533254 [GRCh37] ChrX:Xq21.1	likely benign
NM_001330574.2(ZNF711):c.*1260G>A	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000314765]\|Premature ovarian failure 2b [RCV000268292]\|ZNF711-Related X-linked Mental Retardation [RCV001168456]	ChrX:85273088 [GRCh38] ChrX:84528094 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.*1808A>G	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000270019]\|Premature ovarian failure 2b [RCV000301203]	ChrX:85277613 [GRCh38] ChrX:84532619 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*1431A>C	single nucleotide variant	Non-syndromic X-linked intellectual disability [RCV000384275]\|Premature ovarian failure 2b [RCV000302162]	ChrX:85277990 [GRCh38] ChrX:84532996 [GRCh37] ChrX:Xq21.1	benign
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:70297-155255792)	copy number loss	See cases [RCV000449461]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.1-28(chrX:68701338-155233731)x3	copy number gain	See cases [RCV000446471]	ChrX:68701338..155233731 [GRCh37] ChrX:Xq13.1-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60701-155246225)x3	copy number gain	See cases [RCV000446270]	ChrX:60701..155246225 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:71267-155255792)x1	copy number loss	See cases [RCV000446197]	ChrX:71267..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:318707-155224707)x1	copy number loss	See cases [RCV000446667]	ChrX:318707..155224707 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:2703632-155233731)x1	copy number loss	See cases [RCV000446712]	ChrX:2703632..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.3-28(chrX:74787886-155233731)x1	copy number loss	See cases [RCV000447490]	ChrX:74787886..155233731 [GRCh37] ChrX:Xq13.3-28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58140271-155046703)x3	copy number gain	See cases [RCV000446151]	ChrX:58140271..155046703 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	See cases [RCV000446932]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155196888)x3	copy number gain	See cases [RCV000446310]	ChrX:168546..155196888 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155081533)x3	copy number gain	See cases [RCV000447253]	ChrX:168546..155081533 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168566-155233731)x1	copy number loss	See cases [RCV000445720]	ChrX:168566..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:55532799-150239235)x1	copy number loss	See cases [RCV000448870]	ChrX:55532799..150239235 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	See cases [RCV000448393]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155255792)x4	copy number gain	See cases [RCV000448034]	ChrX:70297..155255792 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-27.1(chrX:72224362-139262228)x4	copy number gain	See cases [RCV000448394]	ChrX:72224362..139262228 [GRCh37] ChrX:Xq13.2-27.1	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:70297-155246585)x1	copy number loss	See cases [RCV000448652]	ChrX:70297..155246585 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168547-151304063)x1	copy number loss	See cases [RCV000510382]	ChrX:168547..151304063 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q23(chrX:168547-112474026)x1	copy number loss	See cases [RCV000510419]	ChrX:168547..112474026 [GRCh37] ChrX:Xp22.33-q23	pathogenic
NM_024921.4(POF1B):c.1317+3A>T	single nucleotide variant	not provided [RCV000498073]	ChrX:85306178 [GRCh38] ChrX:84561184 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:55000501-155230750)x3	copy number gain	See cases [RCV000511787]	ChrX:55000501..155230750 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp21.1-q22.1(chrX:37521774-98488534)x1	copy number loss	See cases [RCV000512026]	ChrX:37521774..98488534 [GRCh37] ChrX:Xp21.1-q22.1	pathogenic
GRCh37/hg19 Xp21.2-q28(chrX:31088082-155233731)x1	copy number loss	See cases [RCV000511413]	ChrX:31088082..155233731 [GRCh37] ChrX:Xp21.2-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 Xp22.33-q28(chrX:168547-155233731)	copy number gain	See cases [RCV000512020]	ChrX:168547..155233731 [GRCh37] ChrX:Xp22.33-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 Xq21.1-28(chrX:78230501-155233731)x1	copy number loss	See cases [RCV000510820]	ChrX:78230501..155233731 [GRCh37] ChrX:Xq21.1-28	pathogenic
GRCh37/hg19 Xq13.3-24(chrX:74560735-116609286)	copy number loss	See cases [RCV000510947]	ChrX:74560735..116609286 [GRCh37] ChrX:Xq13.3-24	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57511767-155233731)x3	copy number gain	See cases [RCV000510826]	ChrX:57511767..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
Single allele	duplication	Syndromic X-linked intellectual disability Lubs type [RCV000768455]	ChrX:15323210..153542100 [GRCh37] ChrX:Xp22.2-q28	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:57415659-155233731)x3	copy number gain	See cases [RCV000512173]	ChrX:57415659..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic
GRCh37/hg19 Xp22.31-q21.31(chrX:7841947-90815333)x1,2	copy number gain	not provided [RCV000684261]	ChrX:7841947..90815333 [GRCh37] ChrX:Xp22.31-q21.31	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x1	copy number loss	not provided [RCV000848828]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp11.1-q28(chrX:58455352-155233731)x1	copy number loss	not provided [RCV000846274]	ChrX:58455352..155233731 [GRCh37] ChrX:Xp11.1-q28	pathogenic
GRCh37/hg19 Xq21.1(chrX:84444331-84563220)x3	copy number gain	not provided [RCV000753635]	ChrX:84444331..84563220 [GRCh37] ChrX:Xq21.1	benign
GRCh37/hg19 Xp22.33-q28(chrX:60814-155254881)x2	copy number gain	not provided [RCV000753277]	ChrX:60814..155254881 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq13.2-28(chrX:73472626-155254881)x1	copy number loss	not provided [RCV000753606]	ChrX:73472626..155254881 [GRCh37] ChrX:Xq13.2-28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x1	copy number loss	not provided [RCV000753271]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:181779-155171702)x1	copy number loss	not provided [RCV000753278]	ChrX:181779..155171702 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60262-155245765)x3	copy number gain	not provided [RCV000753272]	ChrX:60262..155245765 [GRCh37] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xp22.33-q28(chrX:60814-155236712)x2	copy number gain	not provided [RCV000753276]	ChrX:60814..155236712 [GRCh37] ChrX:Xp22.33-q28	pathogenic
Single allele	duplication	Autistic disorder of childhood onset [RCV000754365]	ChrX:1..156040895 [GRCh38] ChrX:Xp22.33-q28	pathogenic
GRCh37/hg19 Xq11.1-28(chrX:61694576-155254881)x1	copy number loss	not provided [RCV000753556]	ChrX:61694576..155254881 [GRCh37] ChrX:Xq11.1-28	pathogenic
NC_000023.10:g.36649710_136649711del100000002insG	indel	Heterotaxy, visceral, 1, X-linked [RCV000754886]	ChrX:36649710..136649711 [GRCh37] ChrX:Xp21.1-q26.3	pathogenic
NM_024921.4(POF1B):c.1527G>A (p.Leu509=)	single nucleotide variant	not provided [RCV000894947]	ChrX:85304382 [GRCh38] ChrX:84559388 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.*484C>T	single nucleotide variant	Premature ovarian failure 2b [RCV001166805]	ChrX:85278937 [GRCh38] ChrX:84533943 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.1764+3A>G	single nucleotide variant	Premature ovarian failure 2b [RCV001168514]\|not provided [RCV000900187]	ChrX:85282200 [GRCh38] ChrX:84537206 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.660T>C (p.Asn220=)	single nucleotide variant	not provided [RCV000928124]	ChrX:85345923 [GRCh38] ChrX:84600929 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.1566+10G>A	single nucleotide variant	Premature ovarian failure 2b [RCV001169254]\|not provided [RCV000905161]	ChrX:85304333 [GRCh38] ChrX:84559339 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.1765-10del	deletion	not provided [RCV000898713]	ChrX:85279436 [GRCh38] ChrX:84534442 [GRCh37] ChrX:Xq21.1	benign
NC_000023.10:g.(?_83372068)_(86924394_?)del	deletion	not provided [RCV001033923]	ChrX:83372068..86924394 [GRCh37] ChrX:Xq21.1-21.31	pathogenic
NC_000023.10:g.(?_82763333)_(86890775_?)del	deletion	not provided [RCV001033944]	ChrX:82763333..86890775 [GRCh37] ChrX:Xq21.1-21.31	pathogenic
NC_000023.10:g.(?_83126460)_(86924394_?)del	deletion	not provided [RCV001032392]	ChrX:83126460..86924394 [GRCh37] ChrX:Xq21.1-21.31	pathogenic
NC_000023.10:g.(?_83576897)_(86924394_?)del	deletion	not provided [RCV001033207]	ChrX:83576897..86924394 [GRCh37] ChrX:Xq21.1-21.31	pathogenic
NM_024921.4(POF1B):c.76C>T (p.Gln26Ter)	single nucleotide variant	Premature ovarian failure 2b [RCV000778899]	ChrX:85379379 [GRCh38] ChrX:84634384 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.315A>C (p.Thr105=)	single nucleotide variant	not provided [RCV000930774]	ChrX:85367734 [GRCh38] ChrX:84622739 [GRCh37] ChrX:Xq21.1	likely benign
GRCh37/hg19 Xp22.33-q28(chrX:168546-155233731)x4	copy number gain	not provided [RCV000846039]	ChrX:168546..155233731 [GRCh37] ChrX:Xp22.33-q28	pathogenic
NM_024921.4(POF1B):c.85C>A (p.His29Asn)	single nucleotide variant	Premature ovarian failure 2b [RCV001166855]	ChrX:85379370 [GRCh38] ChrX:84634375 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*1113T>G	single nucleotide variant	Premature ovarian failure 2b [RCV001166275]	ChrX:85278308 [GRCh38] ChrX:84533314 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*780G>A	single nucleotide variant	Premature ovarian failure 2b [RCV001166277]	ChrX:85278641 [GRCh38] ChrX:84533647 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.960G>A (p.Met320Ile)	single nucleotide variant	Premature ovarian failure 2b [RCV001166332]	ChrX:85308214 [GRCh38] ChrX:84563220 [GRCh37] ChrX:Xq21.1	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
NM_024921.4(POF1B):c.220G>T (p.Val74Leu)	single nucleotide variant	Premature ovarian failure 2b [RCV001166333]	ChrX:85379235 [GRCh38] ChrX:84634240 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.1595A>G (p.Tyr532Cys)	single nucleotide variant	Premature ovarian failure 2b [RCV001169253]	ChrX:85303460 [GRCh38] ChrX:84558466 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp11.4-q21.32(chrX:40572613-92796528)x1	copy number loss	not provided [RCV000845670]	ChrX:40572613..92796528 [GRCh37] ChrX:Xp11.4-q21.32	pathogenic
NM_024921.4(POF1B):c.*1744A>G	single nucleotide variant	Premature ovarian failure 2b [RCV001169193]	ChrX:85277677 [GRCh38] ChrX:84532683 [GRCh37] ChrX:Xq21.1	uncertain significance
GRCh37/hg19 Xp11.21-q28(chrX:54941868-155233731)x1	copy number loss	not provided [RCV000848218]	ChrX:54941868..155233731 [GRCh37] ChrX:Xp11.21-q28	uncertain significance
GRCh37/hg19 Xq13.3-21.31(chrX:74667077-90312981)x1	copy number loss	not provided [RCV000847338]	ChrX:74667077..90312981 [GRCh37] ChrX:Xq13.3-21.31	pathogenic
NM_024921.4(POF1B):c.*686C>G	single nucleotide variant	Premature ovarian failure 2b [RCV001166804]	ChrX:85278735 [GRCh38] ChrX:84533741 [GRCh37] ChrX:Xq21.1	likely benign
NM_024921.4(POF1B):c.*313C>T	single nucleotide variant	Premature ovarian failure 2b [RCV001166806]	ChrX:85279108 [GRCh38] ChrX:84534114 [GRCh37] ChrX:Xq21.1	benign
NM_024921.4(POF1B):c.1383G>A (p.Thr461=)	single nucleotide variant	Premature ovarian failure 2b [RCV001169256]\|not provided [RCV000886044]	ChrX:85305845 [GRCh38] ChrX:84560851 [GRCh37] ChrX:Xq21.1	benign\|likely benign
NM_024921.4(POF1B):c.943C>T (p.Arg315Cys)	single nucleotide variant	not provided [RCV000906752]	ChrX:85314446 [GRCh38] ChrX:84569452 [GRCh37] ChrX:Xq21.1	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
NC_000023.10:g.(?_84634178)_(85404112_?)del	deletion	not provided [RCV001033627]	ChrX:84634178..85404112 [GRCh37] ChrX:Xq21.2	pathogenic
NM_024921.4(POF1B):c.1402A>C (p.Arg468=)	single nucleotide variant	Premature ovarian failure 2b [RCV001169255]	ChrX:85305826 [GRCh38] ChrX:84560832 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.1348C>A (p.Gln450Lys)	single nucleotide variant	Premature ovarian failure 2b [RCV001169257]	ChrX:85305880 [GRCh38] ChrX:84560886 [GRCh37] ChrX:Xq21.1	uncertain significance
NM_024921.4(POF1B):c.*837T>G	single nucleotide variant	Premature ovarian failure 2b [RCV001166276]	ChrX:85278584 [GRCh38] ChrX:84533590 [GRCh37] ChrX:Xq21.1	uncertain significance
NC_000023.10:g.(?_83372068)_(86890775_?)del	deletion	not provided [RCV001032728]	ChrX:83372068..86890775 [GRCh37] ChrX:Xq21.1-21.31	pathogenic
NC_000023.10:g.(?_82763333)_(86924394_?)del	deletion	not provided [RCV001033898]	ChrX:82763333..86924394 [GRCh37] ChrX:Xq21.1-21.31	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 Xq21.1-25(chrX:77514079-127770854)x1	copy number loss	not provided [RCV001259005]	ChrX:77514079..127770854 [GRCh37] ChrX:Xq21.1-25	pathogenic
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3	copy number gain	not provided [RCV001281359]	ChrX:56469080..155233731 [GRCh37] ChrX:Xp11.21-q28	pathogenic

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:13711	AgrOrtholog
COSMIC	POF1B	COSMIC
Ensembl Genes	ENSG00000124429	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000262753	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000362238	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000262753	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000373145	ENTREZGENE, UniProtKB/Swiss-Prot
GTEx	ENSG00000124429	GTEx
HGNC ID	HGNC:13711	ENTREZGENE
Human Proteome Map	POF1B	Human Proteome Map
InterPro	POF1B	UniProtKB/Swiss-Prot
KEGG Report	hsa:79983	UniProtKB/Swiss-Prot
NCBI Gene	79983	ENTREZGENE
OMIM	300603	OMIM
	300604	OMIM
PANTHER	PTHR22546	UniProtKB/Swiss-Prot
PharmGKB	PA134937695	PharmGKB
UniProt	POF1B_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
UniProt Secondary	A8K2U5	UniProtKB/Swiss-Prot
	Q5H9E9	UniProtKB/Swiss-Prot
	Q5H9F0	UniProtKB/Swiss-Prot
	Q8NG12	UniProtKB/Swiss-Prot
	Q9H5Y2	UniProtKB/Swiss-Prot
	Q9H738	UniProtKB/Swiss-Prot
	Q9H744	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	POF1B	POF1B actin binding protein		POF1B, actin binding protein	Symbol and/or name change	5135510	APPROVED
2017-08-15	POF1B	POF1B, actin binding protein		premature ovarian failure, 1B	Symbol and/or name change	5135510	APPROVED

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

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

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

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

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Imported Disease Annotations - OMIM

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - OMIM