POU5F1B

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

Basic information

Region (hg38): 8:127322183-127420066

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.

• not_specified (48 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. These statistics are base on transcript: NM_001159542.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1		1
missense			48			48
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	48	1	0

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