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

Missense Variant

Splice Region Variant

Start Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Filter
8-37888092-A-T	ENST00000338825	p.Met1?	Start Lost	0	0	0	rs1277089396
8-37888096-C-A	ENST00000338825	p.Ser2Tyr	Missense Variant	0	0	0	rs761170443
8-37888097-C-T	ENST00000338825	p.Ser2Ser	Synonymous Variant	0	0	0	rs532307158
8-37888098-G-T	ENST00000338825	p.Gly3Trp	Missense Variant	1	31302	0.000032	rs772954414
8-37888100-G-A	ENST00000338825	p.Gly3Gly	Synonymous Variant	1	31302	0.000032	rs1421064637	RF
8-37888109-C-T	ENST00000338825	p.Ser6Ser	Synonymous Variant	0	0	0	rs1482700840
8-37888113-A-G	ENST00000338825	p.Ser8Gly	Missense Variant	0	0	0	rs1208512188
8-37888114-G-A	ENST00000338825	p.Ser8Asn	Missense Variant	1	31276	0.000032	rs960843663
8-37888115-C-G	ENST00000338825	p.Ser8Arg	Missense Variant	0	0	0	rs1475533825
8-37888115-C-T	ENST00000338825	p.Ser8Ser	Synonymous Variant	0	0	0	rs1475533825
8-37888121-C-T	ENST00000338825	p.Thr10Thr	Synonymous Variant	0	0	0	rs1192862929
8-37888128-C-T	ENST00000338825	p.Arg13Trp	Missense Variant	0	0	0	rs990926340
8-37888129-G-C	ENST00000338825	p.Arg13Pro	Missense Variant	0	0	0	rs1426842982
8-37888135-T-C	ENST00000338825	p.Ile15Thr	Missense Variant	0	0	0	rs878963240
8-37888137-C-G	ENST00000338825	p.Pro16Ala	Missense Variant	1	31320	0.000032	rs1167413162
8-37888139-C-T	ENST00000338825	p.Pro16Pro	Synonymous Variant	0	0	0	rs1355381043
8-37888144-C-T	ENST00000338825	p.Thr18Ile	Missense Variant	0	0	0	rs762960084
8-37888148-C-T	ENST00000338825	p.Arg19Arg	Synonymous Variant	0	0	0	rs1311502041
8-37888150-G-A	ENST00000338825	p.Arg20Gln	Missense Variant	0	0	0	rs937126408
8-37888152-G-A	ENST00000338825	p.Val21Met	Missense Variant	3	31344	0.000096	rs1457903078

Showing 1 to 20 of 92 entries

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Post-translational Modifications (PTMs)

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
EIF4EBP1	Q13541	Phosphorylation	10	T10-p	GGsSCsQtPsRAIPA	12.58	36125275
EIF4EBP1	Q13541	Phosphorylation	101	S101-p	sQSHLRNsPEDKRAG	12.58	449033
EIF4EBP1	Q13541	Phosphorylation	112	S112-p	KRAGGEEsQFEMDI_	12.58	447526
EIF4EBP1	Q13541	Phosphorylation	12	S12-p	sSCsQtPsRAIPATR	12.58	34369111
EIF4EBP1	Q13541	Phosphorylation	2	S2-p	______MsGGsSCsQ	12.58	25279033
EIF4EBP1	Q13541	Phosphorylation	34	Y34-p	VQLPPGDysttPGGt	12.58	451722
EIF4EBP1	Q13541	Phosphorylation	35	S35-p	QLPPGDysttPGGtL	12.58	3195713
EIF4EBP1	Q13541	Phosphorylation	36	T36-p	LPPGDysttPGGtLF	12.58	3195722
EIF4EBP1	Q13541	Phosphorylation	37	T37-p	PPGDysttPGGtLFs	12.58	447497
EIF4EBP1	Q13541	Phosphorylation	41	T41-p	ysttPGGtLFsttPG	12.58	449366
EIF4EBP1	Q13541	Phosphorylation	44	S44-p	tPGGtLFsttPGGtR	12.58	3195716
EIF4EBP1	Q13541	Phosphorylation	45	T45-p	PGGtLFsttPGGtRI	12.58	3195725
EIF4EBP1	Q13541	Phosphorylation	46	T46-p	GGtLFsttPGGtRII	12.58	447496
EIF4EBP1	Q13541	Phosphorylation	5	S5-p	___MsGGsSCsQtPs	12.58	11536050
EIF4EBP1	Q13541	Phosphorylation	50	T50-p	FsttPGGtRIIyDRk	12.58	3195728
EIF4EBP1	Q13541	Phosphorylation	54	Y54-p	PGGtRIIyDRkFLME	12.58	3195734
EIF4EBP1	Q13541	Ubiquitination	57	K57-ub	tRIIyDRkFLMECrN	12.58	15489149
EIF4EBP1	Q13541	Methylation	63	R63-m1	RkFLMECrNsPVtkt	12.58	57732212
EIF4EBP1	Q13541	Phosphorylation	65	S65-p	FLMECrNsPVtktPP	12.58	447527
EIF4EBP1	Q13541	Phosphorylation	68	T68-p	ECrNsPVtktPPRDL	12.58	471504

Showing 1 to 20 of 29 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

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
EIF4EBP1	ENST00000338825	AOCS-085-1-2	ovary	carcinoma	31087155	c.145+3752C>T	p.?	Unknown	NEUTRAL	.05035	Confirmed somatic variant	PMID: N/A	NS	0
EIF4EBP1	ENST00000338825	W34T	thyroid	carcinoma	31086869	c.19T>A	p.C7S	Substitution - Missense		.68633	Confirmed somatic variant	PMID: N/A	primary	7
EIF4EBP1	ENST00000338825	LP6007544-DNA_A01	oesophagus	carcinoma	31087400	c.145+8364G>A	p.?	Unknown	NEUTRAL	.00298	Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	BD114T	biliary_tract	carcinoma	31087276	c.*101G>T	p.?	Unknown	NEUTRAL	.24199	Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	PD14468a	breast	carcinoma	31087540	c.145+12912G>A	p.?	Unknown	NEUTRAL	.00077	Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	DCG_04	central_nervous_system	glioma	31087038	c.77G>A	p.G26D	Substitution - Missense		.67507	Confirmed somatic variant	PMID: 28852847	NS	26
EIF4EBP1	ENST00000338825	OSCC-GB_01230111	upper_aerodigestive_tract	carcinoma	31087042	c.146-7941del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	TCGA-CR-7402-01	upper_aerodigestive_tract	carcinoma	31086978	c.201G>T	p.V67=	Substitution - coding silent	PATHOGENIC	.79128	Confirmed somatic variant	PMID: N/A	NS	67
EIF4EBP1	ENST00000338825	8052570	pancreas	carcinoma	31087199	c.145+9956G>A	p.?	Unknown	NEUTRAL	.00985	Confirmed somatic variant	PMID: N/A	NS	0
EIF4EBP1	ENST00000338825	ESCC_01252	oesophagus	carcinoma	31087131	c.*296G>A	p.?	Unknown	NEUTRAL	.10284	Confirmed somatic variant	PMID: 27058444	NS	0
EIF4EBP1	ENST00000338825	TCGA-3M-AB47-01	stomach	carcinoma	31087606	c.*96G>A	p.?	Unknown	NEUTRAL	.34722	Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	LUAD-NYU315	lung	carcinoma	31087477	c.322G>T	p.G108C	Substitution - Missense	NEUTRAL	.18327	Variant of unknown origin	PMID: 22980975	primary	108
EIF4EBP1	ENST00000338825	YYY-324T	stomach	carcinoma	31087168	c.145+11278G>A	p.?	Unknown	NEUTRAL	.00057	Confirmed somatic variant	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	C0009T	kidney	NS	31087292	c.*92A>G	p.?	Unknown	NEUTRAL	.0857	Confirmed somatic variant	PMID: N/A	NS	0
EIF4EBP1	ENST00000338825	TCGA-AP-A1E0-01	endometrium	carcinoma	31087727	c.*167C>T	p.?	Unknown	NEUTRAL	.01354	Confirmed somatic variant	PMID: N/A	NS	0
EIF4EBP1	ENST00000338825	RK027_C01	liver	carcinoma	31087618	c.*14G>C	p.?	Unknown	NEUTRAL	.06603	Variant of unknown origin	PMID: N/A	primary	0
EIF4EBP1	ENST00000338825	T3724	large_intestine	carcinoma	31087883	c.*34del	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
EIF4EBP1	ENST00000338825	W29T	thyroid	carcinoma	31087346	c.121A>T	p.T41S	Substitution - Missense	PATHOGENIC	.81965	Confirmed somatic variant	PMID: N/A	primary	41
EIF4EBP1	ENST00000338825	TCGA-FD-A5BS-01	urinary_tract	carcinoma	31087315	c.*49C>T	p.?	Unknown	NEUTRAL	.08823	Confirmed somatic variant	PMID: N/A	NS	0
EIF4EBP1	ENST00000338825	GP09	prostate	carcinoma	31087354	c.146-6484G>T	p.?	Unknown	NEUTRAL	.00494	Confirmed somatic variant	PMID: 26844274	primary	0

Showing 1 to 20 of 106 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
PF05456	eIF_4EBP	Eukaryotic translation initiation factor 4E binding protein (EIF4EBP)	2-118			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
HIV Infections	Virus Diseases ; Immune System Diseases ;	0.529	0.793
Inflammation	Pathological Conditions, Signs and Symptoms ;	0.529	0.793
Kidney Neoplasm	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.529	0.793
Leukemia, Myelocytic, Acute	Neoplasms ;	0.529	0.793
Acute Myeloid Leukemia, M1	Neoplasms ;	0.529	0.793
Precancerous Conditions	Neoplasms ;	0.529	0.793
Condition, Preneoplastic	Neoplasms ;	0.529	0.793
Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.529	0.793
Malignant neoplasm of kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.529	0.793
Lymphoma, Lymphocytic, Intermediate	Neoplasms ; Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.529	0.793
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.529	0.793
HIV Coinfection	Virus Diseases ; Immune System Diseases ;	0.529	0.793
NO RESULT FOUND

Description:	eukaryotic translation initiation factor 4E binding protein 1 [Source:HGNC Symbol;Acc:HGNC:3288]
Synonyms:	PHAS-I, 4E-BP1, BP-1, 4EBP1
Other ID(s):	HGNC:3288, ENSG00000187840
Protein Accession Numbers:	ENST00000338825, NP_004086
Statistics:	ClinVar(1) gnomAD(92) COSMIC(106) PTM(29)

Classification of Clinicial Significance of ClinVar Data