POU5F1B

POU class 5 homeobox 1B, the group of POU class homeoboxes and pseudogenes

Basic information

Region (hg38): 8:127322182-127420066

Previous symbols: [ "OTF3P1", "POU5F1P1" ]

Links

ENSG00000212993 ∙ NCBI:5462 ∙ OMIM:615739 ∙ HGNC:9223 ∙ Uniprot:Q06416 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the POU5F1B gene.

• Inborn genetic diseases (15 variants)
• not provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the POU5F1B 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		1
missense			15			15
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	15	1	0

Variants in POU5F1B

This is a list of pathogenic ClinVar variants found in the POU5F1B region.

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

Position	Type	Phenotype	Significance	ClinVar
8-127325027-T-TAC		Familial prostate carcinoma	association (-)
8-127415939-G-C		not specified	Uncertain significance (Sep 20, 2023)
8-127416027-G-C		not specified	Uncertain significance (Jun 30, 2023)
8-127416034-G-T		not specified	Uncertain significance (Jun 12, 2023)
8-127416078-G-C		not specified	Uncertain significance (Dec 16, 2022)
8-127416131-G-A		not specified	Uncertain significance (Jan 26, 2023)
8-127416170-G-A		not specified	Uncertain significance (Mar 02, 2023)
8-127416207-C-G		not specified	Uncertain significance (Mar 04, 2024)
8-127416210-G-A		Inborn genetic diseases	Uncertain significance (Jan 04, 2022)
8-127416221-C-G		not specified	Uncertain significance (Apr 06, 2022)
8-127416287-G-T		not specified	Uncertain significance (Jun 22, 2021)
8-127416315-C-G		not specified	Uncertain significance (Jan 31, 2024)
8-127416396-A-C		not specified	Uncertain significance (Aug 16, 2021)
8-127416423-G-C		not specified	Uncertain significance (Mar 24, 2023)
8-127416530-A-G		not specified	Uncertain significance (Aug 04, 2023)
8-127416545-A-G		not specified	Uncertain significance (Apr 25, 2022)
8-127416604-G-T		not specified	Uncertain significance (Jul 14, 2021)
8-127416707-C-T		not specified	Uncertain significance (Jul 12, 2022)
8-127416741-C-G		not specified	Uncertain significance (Apr 28, 2022)
8-127416824-G-C		not specified	Uncertain significance (Jul 11, 2022)
8-127416828-C-G		not specified	Uncertain significance (Feb 05, 2024)
8-127416910-C-T			Likely benign (Oct 01, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
POU5F1B	protein_coding	protein_coding	ENST00000465342	1	5777

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000291	0.360	125403	2	283	125688	0.00113

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.356	205	191	1.07	0.0000111	2251
Missense in Polyphen		48	46.717	1.0275		641
Synonymous	-0.880	97	86.6	1.12	0.00000555	747
Loss of Function	-0.190	5	4.56	1.10	1.95e-7	58

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0146	0.0135
Ashkenazi Jewish	0.00	0.00
East Asian	0.0000544	0.0000544
Finnish	0.000516	0.000462
European (Non-Finnish)	0.000349	0.000326
Middle Eastern	0.0000544	0.0000544
South Asian	0.000188	0.000163
Other	0.000332	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Shows weak transcriptional activator activity. {ECO:0000269|PubMed:18949397}.
• Pathway: Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human) (Consensus)

Haploinsufficiency Scores

• pHI: 0.0653
• hipred: N
• hipred_score: 0.112
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.114

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	High	High	High
Primary Immunodeficiency	High	High	High
Cancer	High	High	High

Gene ontology

• Biological process: regulation of transcription, DNA-templated;regulation of transcription by RNA polymerase II
• Cellular component: nucleoplasm;mitochondrion;cytosol
• Molecular function: DNA-binding transcription factor activity, RNA polymerase II-specific;DNA-binding transcription factor activity;sequence-specific DNA binding