ConVarT

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

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
12-104513518-T-A	ENST00000240055	p.Ser207Ser	Synonymous Variant	0	0	0	rs750868091
12-104513518-T-A	ENST00000551727	p.Ser207Ser	Synonymous Variant	0	0	0	rs750868091
12-104513533-C-T	ENST00000240055	p.Gln202Gln	Synonymous Variant	0	0	0	rs757905056
12-104513533-C-T	ENST00000551727	p.Gln202Gln	Synonymous Variant	0	0	0	rs757905056
12-104513538-C-T	ENST00000240055	p.Val201Ile	Missense Variant	0	0	0	rs779575338
12-104513538-C-T	ENST00000551727	p.Val201Ile	Missense Variant	0	0	0	rs779575338
12-104514187-T-C	ENST00000240055	p.Ser194Ser	Synonymous Variant	1	31402	0.000032	rs970778824
12-104514187-T-C	ENST00000551727	p.Ser194Ser	Synonymous Variant	1	31402	0.000032	rs970778824
12-104514189-A-G	ENST00000240055	p.Ser194Pro	Missense Variant	0	0	0	rs764447087
12-104514189-A-G	ENST00000551727	p.Ser194Pro	Missense Variant	0	0	0	rs764447087
12-104514195-T-C	ENST00000240055	p.Thr192Ala	Missense Variant	0	0	0	rs776816140
12-104514195-T-C	ENST00000551727	p.Thr192Ala	Missense Variant	0	0	0	rs776816140
12-104514196-G-A	ENST00000240055	p.Tyr191Tyr	Synonymous Variant	1	31398	0.000032	rs762175011
12-104514196-G-A	ENST00000551727	p.Tyr191Tyr	Synonymous Variant	1	31398	0.000032	rs762175011
12-104514220-A-T	ENST00000240055	p.Gly183Gly	Synonymous Variant	0	0	0	rs765516252
12-104514220-A-T	ENST00000551727	p.Gly183Gly	Synonymous Variant	0	0	0	rs765516252
12-104514221-C-T	ENST00000240055	p.Gly183Asp	Missense Variant	0	0	0	rs750957762
12-104514221-C-T	ENST00000551727	p.Gly183Asp	Missense Variant	0	0	0	rs750957762
12-104514222-C-T	ENST00000240055	p.Gly183Ser	Missense Variant	0	0	0	rs758852746
12-104514222-C-T	ENST00000551727	p.Gly183Ser	Missense Variant	0	0	0	rs758852746

Showing 1 to 20 of 200 entries

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Post-translational Modifications (PTMs)

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NFYB	P25208	Phosphorylation	112	T112-p	CHQEKRKtINGEDIL	22.83	23254444
NFYB	P25208	Ubiquitination	140	K140-ub	PLKLYLQkFREAMKG	22.83	22248373
NFYB	P25208	Phosphorylation	2	T2-p	______MtMDGDSST	22.83	25302191
NFYB	P25208	Ubiquitination	77	K77-ub	NAIPQTGkIAKDAKE	22.83	964530876

Showing 1 to 4 of 4 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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
NFYB	ENST00000240055	TCGA-DD-AAE8-01	liver	carcinoma	20296734	c.208A>C	p.N70H	Substitution - Missense	PATHOGENIC	.98887	Confirmed somatic variant	PMID: N/A	primary	70
NFYB	ENST00000240055	TCGA-BH-A0DZ-01	breast	carcinoma	20296664	c.402G>T	p.L134=	Substitution - coding silent	PATHOGENIC	.85984	Confirmed somatic variant	PMID: N/A	primary	134
NFYB	ENST00000240055	274T	liver	other	20296619	c.*515del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
NFYB	ENST00000240055	TCGA-EA-A3QE-01	cervix	carcinoma	20296633	c.550C>G	p.Q184E	Substitution - Missense	PATHOGENIC	.98677	Confirmed somatic variant	PMID: N/A	NS	184
NFYB	ENST00000240055	8052570	pancreas	carcinoma	20296504	c.382G>A	p.D128N	Substitution - Missense	PATHOGENIC	.98675	Confirmed somatic variant	PMID: N/A	NS	128
NFYB	ENST00000240055	RK050_C01	liver	carcinoma	20296441	c.591+268A>G	p.?	Unknown	NEUTRAL	.02097	Reported in another cancer sample as somatic	PMID: N/A	primary	0
NFYB	ENST00000240055	Pat_45_B	NS	malignant_melanoma	20296748	c.113G>C	p.S38T	Substitution - Missense	PATHOGENIC	.97607	Confirmed somatic variant	PMID: 24265153	NS	38
NFYB	ENST00000240055	C0065T	kidney	NS	20296732	c.6+3184C>T	p.?	Unknown	NEUTRAL	.03335	Confirmed somatic variant	PMID: N/A	NS	0
NFYB	ENST00000240055	TCGA-06-0195-01	central_nervous_system	glioma	20296571	c.416A>G	p.Q139R	Substitution - Missense	PATHOGENIC	.98548	Confirmed somatic variant	PMID: N/A	primary	139
NFYB	ENST00000240055	PCSI_0085_Pa_P_526	pancreas	carcinoma	20296442	c.-80+1288A>G	p.?	Unknown	NEUTRAL	.11423	Confirmed somatic variant	PMID: N/A	primary	0
NFYB	ENST00000240055	CPCG0249-F1	prostate	carcinoma	20296603	c.7-1197dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
NFYB	ENST00000240055	T3240	large_intestine	carcinoma	20296674	c.499G>A	p.E167K	Substitution - Missense	PATHOGENIC	.84758	Confirmed somatic variant	PMID: 25344691	NS	167
NFYB	ENST00000240055	RK027_C01	liver	carcinoma	20296617	c.430-463A>G	p.?	Unknown	NEUTRAL	.11488	Variant of unknown origin	PMID: N/A	primary	0
NFYB	ENST00000240055	273T	liver	other	20296473	c.512-187T>C	p.?	Unknown	NEUTRAL	.02228	Confirmed somatic variant	PMID: N/A	primary	0
NFYB	ENST00000240055	W29T	thyroid	carcinoma	20296546	c.410A>T	p.Y137F	Substitution - Missense	PATHOGENIC	.98726	Confirmed somatic variant	PMID: N/A	primary	137
NFYB	ENST00000240055	NAN3	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	20296693	c.96T>C	p.H32=	Substitution - coding silent	NEUTRAL	.08556	Variant of unknown origin	PMID: 30545397	NS	32
NFYB	ENST00000240055	TCGA-AP-A1E0-01	endometrium	carcinoma	20296652	c.287T>G	p.F96C	Substitution - Missense	PATHOGENIC	.99041	Confirmed somatic variant	PMID: N/A	NS	96
NFYB	ENST00000240055	TCGA-W3-AA21-06	skin	malignant_melanoma	20296533	c.339C>T	p.I113=	Substitution - coding silent	PATHOGENIC	.96714	Confirmed somatic variant	PMID: N/A	NS	113
NFYB	ENST00000240055	MGH030-DUBBE	meninges	meningioma	20296691	c.512-7C>T	p.?	Unknown	NEUTRAL	.09605	Confirmed somatic variant	PMID: 30123936	recurrent	0
NFYB	ENST00000240055	2_RESISTANT	NS	malignant_melanoma	20296439	c.591+110_591+111del	p.?	Unknown			Confirmed somatic variant	PMID: 24265154	NS	0

Showing 1 to 20 of 145 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
PF00808	CBFD_NFYB_HMF	Histone-like transcription factor (CBF/NF-Y) and archaeal histone	57-122	CL0012	Histone	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
NO RESULT FOUND
NO RESULT FOUND

Description:	nuclear transcription factor Y subunit beta [Source:RGD Symbol;Acc:3172]
Synonyms:	CBF-B, Nfya, CBFB
Other ID(s):	ENSRNOG00000010309
Protein Accession Numbers:	XP_017450163, XP_006241258, NP_113741
Statistics:	gnomAD(200) COSMIC(145) PTM(4)

Classification of Clinicial Significance of ClinVar Data