ConVarT

Pou4f1 (GeneID: 18996) | Mus musculus

Description:	POU domain, class 4, transcription factor 1 [Source:MGI Symbol;Acc:MGI:102525]
Synonyms:	Brn3, 130119J07Rik, Brn3a, Brn-3.0, Brn3.0, Brn-3
Other ID(s):	ENSMUSG00000048349, MGI:102525
Protein Accession Numbers:	NP_035273, XP_006518769, XP_006518768
Statistics:	ClinVar(2) COSMIC(151) PTM(5)

ClinVar Pathogenicity of Variations

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000377208 You are here now! NP_006228 You are here now!

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
POU4F1	Q01851	Phosphorylation	121	S121-p	GDLLDHIssPSLALM	42.7	6322100
POU4F1	Q01851	Phosphorylation	122	S122-p	DLLDHIssPSLALMA	42.7	6311910
POU4F1	Q01851	Phosphorylation	360	T360-p	GEKKRKRtSIAAPEK	42.7	9237987
POU4F1	Q01851	Phosphorylation	381	S381-p	FAVQPRPsSEKIAAI	42.7	9237991
POU4F1	Q01851	Phosphorylation	39	T39-p	IRRACLPtPPLQSNL	42.7	6311909

Showing 1 to 5 of 5 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
POU4F1	ENST00000377208	TCGA-DA-A1HY-06	skin	malignant_melanoma	40938830	c.*43G>A	p.?	Unknown	NEUTRAL	.15141	Confirmed somatic variant	PMID: N/A	NS	0
POU4F1	ENST00000377208	W10T	thyroid	carcinoma	40937371	c.1130A>G	p.Q377R	Substitution - Missense	PATHOGENIC	.98338	Confirmed somatic variant	PMID: N/A	primary	377
POU4F1	ENST00000377208	J32_T	lung	carcinoma	40938776	c.*1052C>G	p.?	Unknown	NEUTRAL	.19702	Confirmed somatic variant	PMID: N/A	NS	0
POU4F1	ENST00000377208	T_CCA_TH_12	biliary_tract	carcinoma	40937583	c.*2943del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
POU4F1	ENST00000377208	TCGA-VQ-AA64-01	stomach	carcinoma	40937513	c.1092G>A	p.A364=	Substitution - coding silent	PATHOGENIC	.85948	Confirmed somatic variant	PMID: N/A	primary	364
POU4F1	ENST00000377208	GBM20-R3	central_nervous_system	glioma	40938016	c.324_326dup	p.H108dup	Insertion - In frame			Confirmed somatic variant	PMID: 28263318	recurrent	108
POU4F1	ENST00000377208	GCYC_133_T	stomach	carcinoma	40938911	c.802C>T	p.L268F	Substitution - Missense	PATHOGENIC	.92836	Confirmed somatic variant	PMID: N/A	primary	268
POU4F1	ENST00000377208	TCGA-HU-8238-01	stomach	carcinoma	40938242	c.*97C>T	p.?	Unknown	PATHOGENIC	.90864	Confirmed somatic variant	PMID: N/A	NS	0
POU4F1	ENST00000377208	GCYC_133_T	stomach	carcinoma	40938913	c.124-71T>C	p.?	Unknown	NEUTRAL	.43746	Confirmed somatic variant	PMID: N/A	primary	0
POU4F1	ENST00000377208	TCGA-78-7536-01	lung	carcinoma	40939042	c.86C>T	p.S29F	Substitution - Missense	PATHOGENIC	.98948	Variant of unknown origin	PMID: N/A	primary	29
POU4F1	ENST00000377208	TCGA-78-7536-01	lung	carcinoma	40939037	c.99G>T	p.R33=	Substitution - coding silent	PATHOGENIC	.9291	Variant of unknown origin	PMID: N/A	primary	33
POU4F1	ENST00000377208	2334191	lung	carcinoma	40938399	c.793C>A	p.P265T	Substitution - Missense	PATHOGENIC	.92122	Variant of unknown origin	PMID: 22941189	NS	265
POU4F1	ENST00000377208	CHC1725T	liver	carcinoma	40938548	c.124-2A>T	p.?	Unknown	PATHOGENIC	.98569	Confirmed somatic variant	PMID: N/A	primary	0
POU4F1	ENST00000377208	T3118	large_intestine	carcinoma	40937385	c.168G>A	p.A56=	Substitution - coding silent	PATHOGENIC	.90934	Confirmed somatic variant	PMID: 25344691	NS	56
POU4F1	ENST00000377208	ESO-1133	oesophagus	carcinoma	40938569	c.237C>T	p.D79=	Substitution - coding silent	PATHOGENIC	.85912	Variant of unknown origin	PMID: 23525077	primary	79
POU4F1	ENST00000377208	1254-01-03TD	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	40937579	c.*1641G>T	p.?	Unknown	PATHOGENIC	.801	Confirmed somatic variant	PMID: 21642962	primary	0
POU4F1	ENST00000377208	TCGA-BR-7707-01	stomach	carcinoma	40937336	c.-57A>G	p.?	Unknown	NEUTRAL	.06483	Confirmed somatic variant	PMID: N/A	NS	0
POU4F1	ENST00000377208	T3011	large_intestine	carcinoma	40938277	c.23A>G	p.Q8R	Substitution - Missense	PATHOGENIC	.97703	Confirmed somatic variant	PMID: 25344691	NS	8
POU4F1	ENST00000377208	RK118_C01	liver	carcinoma	40938665	c.*2465C>A	p.?	Unknown		.66524	Confirmed somatic variant	PMID: N/A	NS	0
POU4F1	ENST00000377208	182	stomach	carcinoma	40939085	c.234G>A	p.P78=	Substitution - coding silent		.62471	Confirmed somatic variant	PMID: N/A	primary	78

Showing 1 to 20 of 151 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00046	Homeodomain	Homeodomain	356-412	CL0123	HTH	Homo sapiens
PF00157	Pou	Pou domain - N-terminal to homeobox domain	263-337	CL0123	HTH	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Uterine Cervical Neoplasm	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.672	0.276
Leukemia, Myelocytic, Acute	Neoplasms ;	0.672	0.276
Acute Myeloid Leukemia, M1	Neoplasms ;	0.672	0.276
Cervical Intraepithelial Neoplasia	Neoplasms ;	0.672	0.276
Carcinoma in situ of uterine cervix	Neoplasms ;	0.672	0.276
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.672	0.276
cervical cancer	Neoplasms ; Female Urogenital Diseases and Pregnancy Complications ;	0.672	0.276
NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data