POF1B

POF1B actin binding protein

Basic information

Region (hg38): X:85277396-85379717

Links

ENSG00000124429 ∙ NCBI:79983 ∙ OMIM:300603 ∙ HGNC:13711 ∙ Uniprot:Q8WVV4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Premature ovarian failure 2B	XL	Obstetric	Genetic knowledge may allow fertility preservation such as by storing eggs	Endocrine; Obstetric	16773570

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POF1B gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POF1B gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous			1	8	5	14
missense			24	2	5	31
nonsense			1			1
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region			1	1		2
non coding			11	5	17	33
Total	0	0	37	15	27

Variants in POF1B

This is a list of pathogenic ClinVar variants found in the POF1B region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
X-85277572-C-T		Non-syndromic X-linked intellectual disability • Premature ovarian failure 2B	Benign (Jun 14, 2016)
X-85277613-T-C		Non-syndromic X-linked intellectual disability • Premature ovarian failure 2B	Likely benign (Jun 14, 2016)
X-85277677-T-C		Premature ovarian failure 2B	Uncertain significance (Jan 13, 2018)
X-85277735-C-A		Premature ovarian failure 2B	Uncertain significance (Jan 12, 2018)
X-85277795-C-T		Premature ovarian failure 2B • Non-syndromic X-linked intellectual disability	Benign (Jun 14, 2016)
X-85277990-T-G		Premature ovarian failure 2B • Non-syndromic X-linked intellectual disability	Benign (Jun 14, 2016)
X-85278041-A-C		Premature ovarian failure 2B	Benign (Jan 13, 2018)
X-85278248-G-T		Premature ovarian failure 2B • Non-syndromic X-linked intellectual disability	Likely benign (Jun 14, 2016)
X-85278308-A-C		Premature ovarian failure 2B	Uncertain significance (Jan 13, 2018)
X-85278309-C-T		Premature ovarian failure 2B	Uncertain significance (Jan 12, 2018)
X-85278402-G-T		Premature ovarian failure 2B	Benign (Apr 27, 2017)
X-85278584-A-C		Premature ovarian failure 2B	Uncertain significance (Jan 13, 2018)
X-85278586-G-A		Premature ovarian failure 2B	Uncertain significance (Jan 12, 2018)
X-85278641-C-T		Premature ovarian failure 2B	Uncertain significance (Jan 15, 2018)
X-85278646-C-A		Premature ovarian failure 2B	Benign (Jan 13, 2018)
X-85278666-C-T		Premature ovarian failure 2B	Benign (Jan 13, 2018)
X-85278735-G-C		Premature ovarian failure 2B	Likely benign (Jan 13, 2018)
X-85278752-A-G		Premature ovarian failure 2B	Benign (Apr 27, 2017)
X-85278786-A-G		Premature ovarian failure 2B	Uncertain significance (Jan 13, 2018)
X-85278837-T-G		Premature ovarian failure 2B	Uncertain significance (Jan 12, 2018)
X-85278937-G-A		Premature ovarian failure 2B	Uncertain significance (Jan 12, 2018)
X-85279053-C-A		Premature ovarian failure 2B	Benign (Apr 27, 2017)
X-85279069-T-C		Premature ovarian failure 2B	Benign (Jan 12, 2018)
X-85279108-G-A		Premature ovarian failure 2B	Benign (Jan 12, 2018)
X-85279109-T-G		Premature ovarian failure 2B	Benign (Apr 27, 2017)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POF1B	protein_coding	protein_coding	ENST00000262753	16	102347

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
4.51e-11	0.342	125699	6	30	125735	0.000143

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.780	163	194	0.842	0.0000139	3883
Missense in Polyphen		54	74.778	0.72214		1621
Synonymous	-0.209	72	69.8	1.03	0.00000495	1032
Loss of Function	1.03	19	24.5	0.776	0.00000175	464

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000509	0.000450
Ashkenazi Jewish	0.00	0.00
East Asian	0.000254	0.000163
Finnish	0.0000629	0.0000462
European (Non-Finnish)	0.000243	0.000167
Middle Eastern	0.000254	0.000163
South Asian	0.000176	0.0000980
Other	0.000261	0.000163

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a key role in the organization of epithelial monolayers by regulating the actin cytoskeleton. May be involved in ovary development. {ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798}.
• Disease: DISEASE: Premature ovarian failure 2B (POF2B) [MIM:300604]: An ovarian disorder defined as the cessation of ovarian function under the age of 40 years. It is characterized by oligomenorrhea or amenorrhea, in the presence of elevated levels of serum gonadotropins and low estradiol. {ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798}. Note=The disease is caused by mutations affecting the gene represented in this entry.

Recessive Scores

• pRec: 0.414

Intolerance Scores

• loftool: 0.580
• rvis_EVS: 0.93
• rvis_percentile_EVS: 89.79

Haploinsufficiency Scores

• pHI: 0.142
• hipred: N
• hipred_score: 0.201
• ghis: 0.448

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.157

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Pof1b
• Phenotype: normal phenotype

Gene ontology

• Biological process: epithelial cell morphogenesis;actin filament organization;actin cytoskeleton organization;bicellular tight junction assembly
• Cellular component: actin filament;adherens junction;bicellular tight junction;desmosome
• Molecular function: actin filament binding