POU5F1 Gene (Protein Coding)

POU Class 5 Homeobox 1

GC06M031171
GIFtS:
48
This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing,... See more...

Aliases for POU5F1 Gene

Aliases for POU5F1 Gene

  • POU Class 5 Homeobox 1 2 3 5
  • POU Domain, Class 5, Transcription Factor 1 3 4
  • Octamer-Binding Transcription Factor 3 3 4
  • Octamer-Binding Protein 3 3 4
  • Octamer-Binding Protein 4 3 4
  • OTF-3 3 4
  • Oct-3 3 4
  • Oct-4 3 4
  • OTF3 3 4
  • OCT3 3 4
  • OCT4 3 4
  • POU-Type Homeodomain-Containing DNA-Binding Protein 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B1 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B2 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B3 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B4 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B5 3
  • POU Class 5 Homeobox 1 Transcript Variant OCT4B6 3
  • POU Domain Class 5, Transcription Factor 1 2
  • POU Domain Transcription Factor OCT4 3
  • POU ClassV Homeobox 1 Variant 2 3
  • OTF4 3

External Ids for POU5F1 Gene

Previous HGNC Symbols for POU5F1 Gene

  • OTF3

Previous GeneCards Identifiers for POU5F1 Gene

  • GC08P127435
  • GC06M031188
  • GC06M030902
  • GC06M031238
  • GC06M031240
  • GC06M031133
  • GC06M031136
  • GC06M030934

Summaries for POU5F1 Gene

Entrez Gene Summary for POU5F1 Gene

  • This gene encodes a transcription factor containing a POU homeodomain that plays a key role in embryonic development and stem cell pluripotency. Aberrant expression of this gene in adult tissues is associated with tumorigenesis. This gene can participate in a translocation with the Ewing's sarcoma gene on chromosome 21, which also leads to tumor formation. Alternative splicing, as well as usage of alternative AUG and non-AUG translation initiation codons, results in multiple isoforms. One of the AUG start codons is polymorphic in human populations. Related pseudogenes have been identified on chromosomes 1, 3, 8, 10, and 12. [provided by RefSeq, Oct 2013]

CIViC Summary for POU5F1 Gene

GeneCards Summary for POU5F1 Gene

POU5F1 (POU Class 5 Homeobox 1) is a Protein Coding gene. Diseases associated with POU5F1 include Embryonal Carcinoma and Teratoma. Among its related pathways are Wnt Signaling Pathway and Pluripotency and Developmental Biology. Gene Ontology (GO) annotations related to this gene include sequence-specific DNA binding. An important paralog of this gene is POU5F1B.

UniProtKB/Swiss-Prot Summary for POU5F1 Gene

  • Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.

Gene Wiki entry for POU5F1 Gene

Additional gene information for POU5F1 Gene

No data available for Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for POU5F1 Gene

Genomics for POU5F1 Gene

GeneHancer (GH) Regulatory Elements for POU5F1 Gene

Promoters and enhancers for POU5F1 Gene
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around POU5F1 on UCSC Golden Path with GeneCards custom track

Top Transcription factor binding sites by QIAGEN in the POU5F1 gene promoter:
  • AP-1
  • MyoD
  • Nkx2-5
  • STAT3

Genomic Locations for POU5F1 Gene

Genomic Locations for POU5F1 Gene
chr6:31,164,337-31,180,731
(GRCh38/hg38)
Size:
16,395 bases
Orientation:
Minus strand
chr6:31,132,114-31,148,508
(GRCh37/hg19)
Size:
16,395 bases
Orientation:
Minus strand

Genomic View for POU5F1 Gene

Genes around POU5F1 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
POU5F1 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for POU5F1 Gene
GeneLoc Logo Genomic Neighborhood • Exon Structure • Gene Density

RefSeq DNA sequence for POU5F1 Gene

Proteins for POU5F1 Gene

Products:

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  • Protein details for POU5F1 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q01860-PO5F1_HUMAN
    Recommended name:
    POU domain, class 5, transcription factor 1
    Protein Accession:
    Q01860
    Secondary Accessions:
    • A6NCS1
    • A6NLL8
    • D2IYK4
    • P31359
    • Q15167
    • Q15168
    • Q16422
    • Q5STF3
    • Q5STF4

    Protein attributes for POU5F1 Gene

    Size:
    360 amino acids
    Molecular mass:
    38571 Da
    Quaternary structure:
    • Interacts with UBE2I and ZSCAN10 (By similarity). Interacts with PKM. Interacts with WWP2. Interacts with PCGF1 (PubMed:26687479). Interacts with ESRRB; recruits ESRRB near the POU5F1-SOX2 element in the NANOG proximal promoter; the interaction is DNA independent (By similarity). Interacts with MAPK8 and MAPK9; the interaction allows MAPK8 and MAPK9 to phosphorylate POU5F1 on Ser-355 (By similarity). Interacts (when phosphorylated on Ser-355) with FBXW8 (By similarity). Interacts with FBXW4 (By similarity).
    Miscellaneous:
    • Several pseudogenes of POU5F1 have been described on chromosomes 1, 3, 8, 10 and 12. 2 of them, localized in chromosomes 8 and 10, are transcribed in cancer tissues but not in normal ones and may be involved in the regulation of POU5F1 gene activity in carcinogenesis.

    Alternative splice isoforms for POU5F1 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for POU5F1 Gene

Protein Expression for POU5F1 Gene

See protein expression from ProteomicsDB, MOPED, PaxDb, and MaxQB

Post-translational modifications for POU5F1 Gene

  • Sumoylation enhances the protein stability, DNA binding and transactivation activity. Sumoylation is required for enhanced YES1 expression.
  • Ubiquitinated; undergoes 'Lys-63'-linked polyubiquitination by WWP2 leading to proteasomal degradation.
  • ERK1/2-mediated phosphorylation at Ser-111 promotes nuclear exclusion and proteasomal degradation. Phosphorylation at Thr-235 and Ser-236 decrease DNA-binding and alters ability to activate transcription.
  • Modification sites at PhosphoSitePlus
  • Modification sites at neXtProt

Other Protein References for POU5F1 Gene

ENSEMBL proteins:
REFSEQ proteins:

Antibody Products

  • Abcam antibodies for POU5F1

No data available for DME Specific Peptides for POU5F1 Gene

Domains & Families for POU5F1 Gene

Gene Families for POU5F1 Gene

HGNC:
Human Protein Atlas (HPA):
  • Cancer-related genes
  • Predicted intracellular proteins
  • Transcription factors

Protein Domains for POU5F1 Gene

Blocks:
InterPro:
ProtoNet:

Suggested Antigen Peptide Sequences for POU5F1 Gene

GenScript: Design optimal peptide antigens:
  • POU domain class 5 transcription factor 1 (A7WPL9_HUMAN)
  • POU domain class 5 transcription factor 1 (A7WPM0_HUMAN)
  • Putative truncated POU domain class 5 transcription factor 1 (A7WPM1_HUMAN)
  • POU domain class 5 transcription factor 1 (A7WPM2_HUMAN)
  • Putative truncated POU domain class 5 transcription factor 1 (A7WPM3_HUMAN)

Graphical View of Domain Structure for InterPro Entry

Q01860

UniProtKB/Swiss-Prot:

PO5F1_HUMAN :
  • The POU-specific domain mediates interaction with PKM.
  • Belongs to the POU transcription factor family. Class-5 subfamily.
Domain:
  • The POU-specific domain mediates interaction with PKM.
Family:
  • Belongs to the POU transcription factor family. Class-5 subfamily.
genes like me logo Genes that share domains with POU5F1: view

Function for POU5F1 Gene

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  2. CRISPR
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Molecular function for POU5F1 Gene

UniProtKB/Swiss-Prot Function:
Transcription factor that binds to the octamer motif (5'-ATTTGCAT-3'). Forms a trimeric complex with SOX2 on DNA and controls the expression of a number of genes involved in embryonic development such as YES1, FGF4, UTF1 and ZFP206. Critical for early embryogenesis and for embryonic stem cell pluripotency.
UniProtKB/Swiss-Prot Induction:
Transcriptional activity is positively regulated by PKM.
GENATLAS Biochemistry:
POU domain,class 5,transcription factor 1,expressed in neuronal cells,with OCT5 likely a proteolytic product of OCT3

LifeMap Function Summary for POU5F1 Gene

POU5F1 as growth factor is involved in stem cell differentiation protocols towards the derivation of the following cells:

Phenotypes From GWAS Catalog for POU5F1 Gene

Gene Ontology (GO) - Molecular Function for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000976 transcription regulatory region sequence-specific DNA binding IDA 19409607
GO:0000981 DNA-binding transcription factor activity, RNA polymerase II-specific NAS,ISS 19274049
GO:0001158 enhancer sequence-specific DNA binding ISS --
GO:0001227 DNA-binding transcription repressor activity, RNA polymerase II-specific IDA 19409607
GO:0003677 DNA binding IEA,IDA 16153702
genes like me logo Genes that share ontologies with POU5F1: view
genes like me logo Genes that share phenotypes with POU5F1: view

Animal Models for POU5F1 Gene

MGI Knock Outs for POU5F1:

Animal Model Products

CRISPR Products

Targeted motifs for POU5F1 Gene
HOMER Transcription Factor Regulatory Elements motif POU5F1
  • Consensus sequence: ATTTGCATAA Submotif: canonical Cell Type: mES GEO ID: GSE11431

Clone Products

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology and Transcription Factor Targets for POU5F1 Gene

Localization for POU5F1 Gene

Subcellular locations from UniProtKB/Swiss-Prot for POU5F1 Gene

Cytoplasm. Nucleus. Note=Expressed in a diffuse and slightly punctuate pattern. Colocalizes with MAPK8 and MAPK9 in the nucleus. {ECO:0000250 UniProtKB:P20263, ECO:0000269 PubMed:18191611, ECO:0000269 PubMed:19274063, ECO:0000269 PubMed:23024368}.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for POU5F1 gene
Compartment Confidence
nucleus 5
cytosol 5
mitochondrion 4
extracellular 2
cytoskeleton 2
plasma membrane 1

Subcellular locations from the

Human Protein Atlas (HPA)
  • Cytosol (3)
  • Nucleoplasm (3)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000790 nuclear chromatin ISS --
GO:0005634 nucleus IEA,IDA 18000303
GO:0005654 nucleoplasm TAS --
GO:0005737 cytoplasm IDA,IEA 18281244
GO:0005739 mitochondrion IDA --
genes like me logo Genes that share ontologies with POU5F1: view

Pathways & Interactions for POU5F1 Gene

genes like me logo Genes that share pathways with POU5F1: view

Pathways by source for POU5F1 Gene

1 GeneGo (Thomson Reuters) pathway for POU5F1 Gene
5 Qiagen pathways for POU5F1 Gene
  • Human Early Embryo Development
  • Human Embryonic Stem Cell Pluripotency
  • Nanog in Mammalian ESC Pluripotency
  • Oct4 in Mammalian ESC Pluripotency
  • Transcriptional Regulatory Network in Embryonic Stem Cell
1 Cell Signaling Technology pathway for POU5F1 Gene

SIGNOR curated interactions for POU5F1 Gene

Activates:
Inactivates:
Is activated by:
Is inactivated by:

Gene Ontology (GO) - Biological Process for POU5F1 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0000122 negative regulation of transcription by RNA polymerase II IDA 19409607
GO:0001714 endodermal cell fate specification IDA 20713518
GO:0001824 blastocyst development ISS --
GO:0006355 regulation of transcription, DNA-templated IEA,IDA 16153702
GO:0006366 transcription by RNA polymerase II ISS --
genes like me logo Genes that share ontologies with POU5F1: view

Drugs & Compounds for POU5F1 Gene

Products:

  1. Drug

(5) Drugs for POU5F1 Gene - From: DrugBank, PharmGKB, ApexBio, and Novoseek

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Dopamine Approved Pharma Full agonist, Agonist, Transporter, substrate 4684
Norepinephrine Approved Pharma Transporter, substrate 893
Allopurinol Approved Pharma 189
OAC1 Pharma Oct4 activator 0

(3) Additional Compounds for POU5F1 Gene - From: Novoseek

Name Synonyms Role CAS Number PubChem IDs PubMed IDs

(1) ApexBio Compounds for POU5F1 Gene

Compound Action Cas Number
OAC1 Oct4 activator 300586-90-7
genes like me logo Genes that share compounds with POU5F1: view

Transcripts for POU5F1 Gene

Products:

  1. CRISPR
  2. miRNA
  3. Inhibitory RNA
  4. Clone

mRNA/cDNA for POU5F1 Gene

(5) REFSEQ mRNAs :
(96) Additional mRNA sequences :
(9) Selected AceView cDNA sequences:
(9) Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

CRISPR Products

Clone Products

Alternative Splicing Database (ASD) splice patterns (SP) for POU5F1 Gene

No ASD Table

Relevant External Links for POU5F1 Gene

GeneLoc Exon Structure for
POU5F1
ECgene alternative splicing isoforms for
POU5F1

Expression for POU5F1 Gene

Products:

  1. Primer
  2. Gene Expression Assay

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and CGAP SAGE for POU5F1 Gene

mRNA expression in normal human tissues for POU5F1 Gene
mRNA expression by GTEx for POU5F1 GenemRNA expression by BioGPS for POU5F1 Gene

mRNA expression in embryonic tissues and stem cells from LifeMap Discovery

mRNA differential expression in normal tissues according to GTEx for POU5F1 Gene

This gene is overexpressed in Kidney - Cortex (x7.0), Bladder (x6.1), and Pancreas (x4.4).

Protein differential expression in normal tissues from HIPED for POU5F1 Gene

This gene is overexpressed in Fetal ovary (69.0).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for POU5F1 Gene



Protein tissue co-expression partners for POU5F1 Gene

NURSA nuclear receptor signaling pathways regulating expression of POU5F1 Gene:

POU5F1

SOURCE GeneReport for Unigene cluster for POU5F1 Gene:

Hs.249184

mRNA Expression by UniProt/SwissProt for POU5F1 Gene:

Q01860-PO5F1_HUMAN
Tissue specificity: Expressed in developing brain. Highest levels found in specific cell layers of the cortex, the olfactory bulb, the hippocampus and the cerebellum. Low levels of expression in adult tissues.

Evidence on tissue expression from TISSUES for POU5F1 Gene

  • Blood(4.4)
  • Heart(4.4)
  • Muscle(4.4)
  • Kidney(4.3)
  • Lung(4.3)
  • Nervous system(2.3)
  • Bone marrow(2.2)
  • Liver(2.1)
  • Skin(2.1)
  • Bone(2)
genes like me logo Genes that share expression patterns with POU5F1: view

No data available for Phenotype-based relationships between genes and organs from Gene ORGANizer for POU5F1 Gene

Orthologs for POU5F1 Gene

This gene was present in the common ancestor of animals.

Orthologs for POU5F1 Gene

Organism Taxonomy Gene Similarity Type Details
chimpanzee
(Pan troglodytes)
 Mammalia POU5F1 33 32
  • 99.91 (n)
 OneToOne
dog
(Canis familiaris)
 Mammalia -- 33
  • 91 (a)
 OneToMany
POU5F1 32
  • 88.98 (n)
cow
(Bos Taurus)
 Mammalia POU5F1 33 32
  • 88.61 (n)
 ManyToMany
-- 33
  • 70 (a)
 ManyToMany
mouse
(Mus musculus)
 Mammalia Pou5f1 17 33 32
  • 82.58 (n)
rat
(Rattus norvegicus)
 Mammalia Pou5f1 32
  • 82.2 (n)
oppossum
(Monodelphis domestica)
 Mammalia -- 33
  • 78 (a)
 OneToMany
chicken
(Gallus gallus)
 Aves POUV 33
  • 40 (a)
 OneToMany
lizard
(Anolis carolinensis)
 Reptilia -- 33
  • 56 (a)
 OneToMany
African clawed frog
(Xenopus laevis)
 Amphibia Xl.23276 32
zebrafish
(Danio rerio)
 Actinopterygii pou5f3 33
  • 29 (a)
 OneToMany
pou5f1 32
fruit fly
(Drosophila melanogaster)
 Insecta acj6 33
  • 22 (a)
 OneToMany
worm
(Caenorhabditis elegans)
 Secernentea unc-86 33
  • 26 (a)
 OneToMany
sea squirt
(Ciona savignyi)
 Ascidiacea -- 33
  • 21 (a)
 OneToMany
Species where no ortholog for POU5F1 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Ashbya gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • alpha proteobacteria (Wolbachia pipientis)
  • amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • baker's yeast (Saccharomyces cerevisiae)
  • barley (Hordeum vulgare)
  • beta proteobacteria (Neisseria meningitidis)
  • bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • common water flea (Daphnia pulex)
  • corn (Zea mays)
  • E. coli (Escherichia coli)
  • filamentous fungi (Aspergillus nidulans)
  • Firmicute bacteria (Streptococcus pneumoniae)
  • fission yeast (Schizosaccharomyces pombe)
  • green algae (Chlamydomonas reinhardtii)
  • honey bee (Apis mellifera)
  • K. lactis yeast (Kluyveromyces lactis)
  • loblloly pine (Pinus taeda)
  • malaria parasite (Plasmodium falciparum)
  • medicago trunc (Medicago Truncatula)
  • moss (Physcomitrella patens)
  • orangutan (Pongo pygmaeus)
  • pig (Sus scrofa)
  • platypus (Ornithorhynchus anatinus)
  • rainbow trout (Oncorhynchus mykiss)
  • rice (Oryza sativa)
  • rice blast fungus (Magnaporthe grisea)
  • schistosome parasite (Schistosoma mansoni)
  • sea anemone (Nematostella vectensis)
  • sea urchin (Strongylocentrotus purpuratus)
  • sorghum (Sorghum bicolor)
  • soybean (Glycine max)
  • stem rust fungus (Puccinia graminis)
  • sugarcane (Saccharum officinarum)
  • thale cress (Arabidopsis thaliana)
  • tomato (Lycopersicon esculentum)
  • toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • tropical clawed frog (Silurana tropicalis)
  • wheat (Triticum aestivum)

Evolution for POU5F1 Gene

ENSEMBL:
Gene Tree for POU5F1 (if available)
TreeFam:
Gene Tree for POU5F1 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for POU5F1: view image

Paralogs for POU5F1 Gene

Paralogs for POU5F1 Gene

(14) SIMAP similar genes for POU5F1 Gene using alignment to 53 proteins:

  • PO5F1_HUMAN
  • A7WPL9_HUMAN
  • A7WPM0_HUMAN
  • A7WPM1_HUMAN
  • A7WPM2_HUMAN
  • A7WPM3_HUMAN
  • A7WPM4_HUMAN
  • A7WPM5_HUMAN
  • A7WPM6_HUMAN
  • A7WPM7_HUMAN
  • A7WPM8_HUMAN
  • A7WPM9_HUMAN
  • A7WPN0_HUMAN
  • B5B8N7_HUMAN
  • B5B8N8_HUMAN
  • B5B8N9_HUMAN
  • B5B8P0_HUMAN
  • B5B8P1_HUMAN
  • B5B8P2_HUMAN
  • B5B8P3_HUMAN
  • B5B8P4_HUMAN
  • B5B8P5_HUMAN
  • B5B8P6_HUMAN
  • B5B8P7_HUMAN
  • B5B8P8_HUMAN
  • B5B8P9_HUMAN
  • B5B8Q0_HUMAN
  • B5B8Q1_HUMAN
  • B5B8Q2_HUMAN
  • B5B8Q3_HUMAN
  • B5B8Q4_HUMAN
  • C3RUE0_HUMAN
  • D2IYK3_HUMAN
  • D5K9Q3_HUMAN
  • D5K9Q6_HUMAN
  • D5K9Q7_HUMAN
  • D5K9Q9_HUMAN
  • D5K9R1_HUMAN
  • D5K9R2_HUMAN
  • D5K9R3_HUMAN
  • D5K9R4_HUMAN
  • D5K9R5_HUMAN
  • D5K9R7_HUMAN
  • D5K9R8_HUMAN
  • D5K9R9_HUMAN
  • D5K9S1_HUMAN
  • E9LR73_HUMAN
  • E9LR75_HUMAN
  • E9LR77_HUMAN
  • E9LR79_HUMAN
  • F2Z381_HUMAN
  • M1S623_HUMAN
  • U3KQH6_HUMAN

Pseudogenes.org Pseudogenes for POU5F1 Gene

genes like me logo Genes that share paralogs with POU5F1: view

Variants for POU5F1 Gene

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Sequence variations from dbSNP and Humsavar for POU5F1 Gene

SNP ID Clin Chr 06 pos Variation AA Info Type
rs1000615578 -- 31,164,140(-) A/G downstream_transcript_variant
rs1001282425 -- 31,167,846(-) G/T genic_upstream_transcript_variant, intron_variant, upstream_transcript_variant
rs1001547868 -- 31,165,347(-) C/T intron_variant
rs1001781252 -- 31,172,373(-) GG/G upstream_transcript_variant
rs1002148625 -- 31,172,618(-) GGG/GG upstream_transcript_variant

Structural Variations from Database of Genomic Variants (DGV) for POU5F1 Gene

Variant ID Type Subtype PubMed ID
dgv1174e214 CNV gain 21293372
dgv1175e214 CNV gain 21293372
esv2731791 CNV deletion 23290073
esv2759414 CNV gain+loss 17122850
esv3411275 CNV duplication 20981092
esv3608531 CNV loss 21293372
esv3608532 CNV gain 21293372
nsv1074389 CNV deletion 25765185
nsv1122126 CNV deletion 24896259
nsv1144137 CNV deletion 24896259
nsv428140 CNV gain+loss 18775914
nsv524061 CNV loss 19592680
nsv525933 CNV loss 19592680
nsv601264 CNV loss 21841781
nsv601481 CNV loss 21841781
nsv970105 CNV duplication 23825009

Variation tolerance for POU5F1 Gene

Residual Variation Intolerance Score: 47% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 2.20; 39.74% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for POU5F1 Gene

Human Gene Mutation Database (HGMD)
POU5F1
SNPedia medical, phenotypic, and genealogical associations of SNPs for
POU5F1

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for POU5F1 Gene

Disorders for POU5F1 Gene

MalaCards: The human disease database

(41) MalaCards diseases for POU5F1 Gene - From: HGMD, DISEASES, Novoseek, and GeneCards

Disorder Aliases PubMed IDs
embryonal carcinoma
  • primary extragonadal embryonal carcinoma
teratoma
  • teratomas
germinoma
germ cell and embryonal cancer
  • germ cell and embryonal neoplasm
central nervous system germinoma
  • intracranial germinoma
- elite association - COSMIC cancer census association via MalaCards

Additional Disease Information for POU5F1

Genetic Association Database
(GAD)
Human Genome Epidemiology Navigator
(HuGE)
ATLAS of Genetics and Cytogenetics in Oncology and Haematology
genes like me logo Genes that share disorders with POU5F1: view