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

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags
11-116691596-G-A	ENST00000357780	p.Pro393Leu	Missense Variant	1	31390	0.000032	rs1352011550
11-116691602-A-G	ENST00000357780	p.Leu391Pro	Missense Variant	0	0	0	rs748914347
11-116691609-G-A	ENST00000357780	p.Gln389Ter	Stop Gained	0	0	0	rs1288845296	lc_lof
11-116691610-C-T	ENST00000357780	p.Val388Val	Synonymous Variant	1	31394	0.000032	rs770527623
11-116691612-C-CCTGCTCCTGCTG	ENST00000357780	p.Gln384_Gln387dup	Inframe Insertion	0	0	0	rs536561018
11-116691612-CCTGCTCCTGCTG-C	ENST00000357780	p.Gln384_Gln387del	Inframe Deletion	22	31280	0.000703	rs536561018
11-116691616-C-CTCCTGCTGCTGCTCCTGCTGCTGT	ENST00000357780	p.Gln380_Gln387dup	Inframe Insertion	0	0	0	rs772008103
11-116691621-G-C	ENST00000357780	p.Gln385Glu	Missense Variant	0	0	0	rs140878274
11-116691621-G-T	ENST00000357780	p.Gln385Lys	Missense Variant	21	31390	0.000669	rs140878274
11-116691625-C-CTGCTCCTGCTGCTGTTCCTGCTGT	ENST00000357780	p.Gln380_Gln387dup	Inframe Insertion	0	0	0	rs775591831
11-116691627-G-T	ENST00000357780	p.Gln383Lys	Missense Variant	0	0	0	rs772571842
11-116691628-C-CTCCTGCTGCTGT	ENST00000357780	p.Gln384_Gln387dup	Inframe Insertion	143	31374	0.004558	rs143392864
11-116691628-CTCCTGCTGCTGT-C	ENST00000357780	p.Gln384_Gln387del	Inframe Deletion	0	0	0	rs143392864
11-116691633-G-T	ENST00000357780	p.Gln381Lys	Missense Variant	3	31402	0.000096	rs372413717
11-116691634-C-A	ENST00000357780	p.Gln380His	Missense Variant	1505	31388	0.047948	rs5110
11-116691635-T-C	ENST00000357780	p.Gln380Arg	Missense Variant	0	0	0	rs768878558
11-116691642-C-G	ENST00000357780	p.Glu378Gln	Missense Variant	0	0	0	rs762090741
11-116691644-T-C	ENST00000357780	p.Gln377Arg	Missense Variant	0	0	0	rs373185537
11-116691644-T-G	ENST00000357780	p.Gln377Pro	Missense Variant	0	0	0	rs373185537
11-116691645-G-A	ENST00000357780	p.Gln377Ter	Stop Gained	0	0	0	rs377393637	lc_lof

Showing 1 to 20 of 477 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
APOA4	P06727	Phosphorylation	174	S174-p	VLRENADsLQASLRP	45.4	56652474
APOA4	P06727	Phosphorylation	202	T202-p	EELKGRLtPYADEFK	45.4	56652476
APOA4	P06727	Phosphorylation	257	S257-p	EELKARIsAsAEELR	45.4	56652480
APOA4	P06727	Phosphorylation	259	S259-p	LKARIsAsAEELRQR	45.4	36839108
APOA4	P06727	Phosphorylation	310	Y310-p	FRRRVEPyGENFNKA	45.4	5953133
APOA4	P06727	Ubiquitination	65	K65-ub	LNALFQDkLGEVNTY	45.4	964498614

Showing 1 to 6 of 6 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Insertion - In Frame

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
APOA4	ENST00000357780	587270	large_intestine	carcinoma	33822845	c.547G>A	p.A183T	Substitution - Missense	NEUTRAL	.05661	Variant of unknown origin	PMID: 22895193	primary	183
APOA4	ENST00000357780	TCGA-BF-A1PX-01	skin	malignant_melanoma	33823657	c.910C>T	p.R304*	Substitution - Nonsense	PATHOGENIC	.9506	Confirmed somatic variant	PMID: N/A	primary	304
APOA4	ENST00000357780	TCGA-DU-8161-01	central_nervous_system	glioma	33823853	c.-9C>G	p.?	Unknown	NEUTRAL	.00056	Confirmed somatic variant	PMID: N/A	NS	0
APOA4	ENST00000357780	TCGA-D3-A5GO-06	skin	malignant_melanoma	33823175	c.628G>A	p.V210I	Substitution - Missense	NEUTRAL	.14763	Confirmed somatic variant	PMID: N/A	NS	210
APOA4	ENST00000357780	5-VS030-T1	skin	carcinoma	33825192	c.1036G>A	p.D346N	Substitution - Missense	PATHOGENIC	.79297	Confirmed somatic variant	PMID: 26950094	NS	346
APOA4	ENST00000357780	5-VS030-T1	skin	carcinoma	33825076	c.1000G>A	p.G334R	Substitution - Missense	NEUTRAL	.37798	Confirmed somatic variant	PMID: 26950094	NS	334
APOA4	ENST00000357780	TCGA-CG-4306-01	stomach	carcinoma	33823482	c.793C>T	p.Q265*	Substitution - Nonsense	NEUTRAL	.37213	Confirmed somatic variant	PMID: N/A	NS	265
APOA4	ENST00000357780	5-VS018-T1	skin	carcinoma	33823662	c.549C>T	p.A183=	Substitution - coding silent	NEUTRAL	.14785	Confirmed somatic variant	PMID: 26950094	NS	183
APOA4	ENST00000357780	T368	large_intestine	carcinoma	33823292	c.570C>T	p.I190=	Substitution - coding silent	NEUTRAL	.2831	Confirmed somatic variant	PMID: 25344691	NS	190
APOA4	ENST00000357780	BD114T	biliary_tract	carcinoma	33823650	c.177-2A>T	p.?	Unknown	PATHOGENIC	.99226	Confirmed somatic variant	PMID: N/A	primary	0
APOA4	ENST00000357780	TCGA-CV-A45U-01	upper_aerodigestive_tract	carcinoma	33822612	c.202G>A	p.E68K	Substitution - Missense	NEUTRAL	.04109	Confirmed somatic variant	PMID: N/A	primary	68
APOA4	ENST00000357780	TCGA-CV-A45U-01	upper_aerodigestive_tract	carcinoma	33822606	c.207G>A	p.V69=	Substitution - coding silent	NEUTRAL	.19462	Confirmed somatic variant	PMID: N/A	primary	69
APOA4	ENST00000357780	BD114T	biliary_tract	carcinoma	33823643	c.539G>T	p.R180M	Substitution - Missense	NEUTRAL	.0392	Confirmed somatic variant	PMID: N/A	primary	180
APOA4	ENST00000357780	ML_75_T_01	skin	carcinoma	33822972	c.177-97C>T	p.?	Unknown	NEUTRAL	.01335	Confirmed somatic variant	PMID: N/A	primary	0
APOA4	ENST00000357780	TCGA-BR-7851-01	stomach	carcinoma	33825007	c.523C>A	p.L175M	Substitution - Missense		.55932	Confirmed somatic variant	PMID: N/A	NS	175
APOA4	ENST00000357780	2014_Lung_sq_102_T	lung	carcinoma	33823318	c.176+21C>T	p.?	Unknown	NEUTRAL	.00557	Confirmed somatic variant	PMID: N/A	primary	0
APOA4	ENST00000357780	TCGA-CM-5861-01	large_intestine	carcinoma	33823549	c.*86G>A	p.?	Unknown	NEUTRAL	.09635	Confirmed somatic variant	PMID: N/A	NS	0
APOA4	ENST00000357780	TCGA-BR-8678-01	stomach	carcinoma	33823502	c.804G>A	p.A268=	Substitution - coding silent	NEUTRAL	.1132	Confirmed somatic variant	PMID: N/A	NS	268
APOA4	ENST00000357780	CX-1	large_intestine	carcinoma	33822881	c.682C>T	p.Q228*	Substitution - Nonsense	NEUTRAL	.42952	Reported in another cancer sample as somatic	PMID: 24755471	NS	228
APOA4	ENST00000357780	CN-AML-CR-4-Dx	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	33823623	c.176+103A>C	p.?	Unknown	NEUTRAL	.00354	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 183 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Organism
NO RESULT FOUND
PF01442	Apolipoprotein	Apolipoprotein A1/A4/E domain	61-250	Homo sapiens
PF01442	Apolipoprotein	Apolipoprotein A1/A4/E domain	244-393	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Atherosclerosis	Cardiovascular Diseases ;	0.596	0.517
Hepatoma, Morris	Neoplasms ; Digestive System Diseases ;	0.596	0.517
Hepatoma, Novikoff	Neoplasms ; Digestive System Diseases ;	0.596	0.517
Hypercholesterolemia, Familial	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.596	0.517
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.596	0.517
Liver Neoplasms, Experimental	Neoplasms ; Digestive System Diseases ;	0.596	0.517
Schizophrenia	Mental Disorders ;	0.596	0.517
Experimental Hepatoma	Neoplasms ; Digestive System Diseases ;	0.596	0.517
Hyperlipoproteinemia Type IIa	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.596	0.517
Atherogenesis	Cardiovascular Diseases ;	0.596	0.517
Hyperlipoproteinemia Type IIb	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.596	0.517
NO RESULT FOUND

Description:	apolipoprotein A4 [Source:Xenbase;Acc:XB-GENE-941908]
Synonyms:	myh11
Other ID(s):	XB-GENE-941908, ENSXETG00000003764
Protein Accession Numbers:	NP_001008099, XP_012821929, XP_012821928
Statistics:	ClinVar(12) gnomAD(477) COSMIC(183) PTM(6)

Classification of Clinicial Significance of ClinVar Data