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

Start Lost

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
4-122589629-A-G	ENST00000296511	p.Asp319Asp	Synonymous Variant	0	0	0	rs764955458
4-122589637-C-G	ENST00000296511	p.Gly317Arg	Missense Variant	2	31394	0.000064	rs750064390
4-122589647-C-T	ENST00000296511	p.Leu313Leu	Synonymous Variant	4	31396	0.000127	rs367554057
4-122589647-CAGA-C	ENST00000296511	p.Leu315del	Inframe Deletion	0	0	0	rs367554057
4-122589648-A-C	ENST00000296511	p.Leu313Arg	Missense Variant	0	0	0	rs1249727675
4-122589653-A-G	ENST00000296511	p.Ala311Ala	Synonymous Variant	27	31392	0.00086	rs142275887
4-122589662-A-G	ENST00000296511	p.Tyr308Tyr	Synonymous Variant	0	0	0	rs751144981
4-122589665-G-A	ENST00000296511	p.Asp307Asp	Synonymous Variant	0	0	0	rs754855448
4-122589669-C-T	ENST00000296511	p.Gly306Glu	Missense Variant	0	0	0	rs1489902665
4-122589671-A-G	ENST00000296511	p.Ser305Ser	Synonymous Variant	0	0	0	rs781155374
4-122589674-T-C	ENST00000296511	p.Thr304Thr	Synonymous Variant	0	0	0	rs1263618745
4-122589680-T-C	ENST00000296511	p.Gly302Gly	Splice Region Variant	0	0	0	rs747906124
4-122589681-C-A	ENST00000296511	p.Gly302Val	Missense Variant	1	31392	0.000032	rs755863340
4-122589681-C-G	ENST00000296511	p.Gly302Ala	Missense Variant	0	0	0	rs755863340
4-122590759-T-C	ENST00000296511	p.Lys301Glu	Missense Variant	0	0	0	rs775738855
4-122590764-A-G	ENST00000296511	p.Met299Thr	Missense Variant	2	31356	0.000064	rs373219000
4-122590776-G-C	ENST00000296511	p.Ser295Cys	Missense Variant	0	0	0	rs1380635484
4-122590778-G-A	ENST00000296511	p.Thr294Thr	Synonymous Variant	1	31300	0.000032	rs929153551
4-122590781-G-A	ENST00000296511	p.Ala293Ala	Synonymous Variant	1	31274	0.000032	rs769350765
4-122590796-A-G	ENST00000296511	p.Phe288Phe	Synonymous Variant	2	31280	0.000064	rs776843685

Showing 1 to 20 of 264 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
ANXA5	P08758	Phosphorylation	10	T10-p	QVLrGTVtDFPGFDE	35.94	55370032
ANXA5	P08758	Ubiquitination	101	K101-ub	yELkHALkGAGtNEk	35.94	12286291
ANXA5	P08758	Acetylation	101	K101-ac	yELkHALkGAGtNEk	35.94	466403
ANXA5	P08758	Phosphorylation	105	T105-p	HALkGAGtNEkVLtE	35.94	34348474
ANXA5	P08758	Ubiquitination	108	K108-ub	kGAGtNEkVLtEIIA	35.94	12301776
ANXA5	P08758	Acetylation	108	K108-ac	kGAGtNEkVLtEIIA	35.94	33362931
ANXA5	P08758	Phosphorylation	111	T111-p	GtNEkVLtEIIAsRt	35.94	31870495
ANXA5	P08758	Phosphorylation	116	S116-p	VLtEIIAsRtPEELR	35.94	18908658
ANXA5	P08758	Phosphorylation	118	T118-p	tEIIAsRtPEELRAI	35.94	27443697
ANXA5	P08758	Ubiquitination	126	K126-ub	PEELRAIkQVyEEEy	35.94	21128944
ANXA5	P08758	Sumoylation	126	K126-sm	PEELRAIkQVyEEEy	35.94	610813686
ANXA5	P08758	Phosphorylation	129	Y129-p	LRAIkQVyEEEyGss	35.94	10280380
ANXA5	P08758	Phosphorylation	133	Y133-p	kQVyEEEyGssLEDD	35.94	10280384
ANXA5	P08758	Phosphorylation	135	S135-p	VyEEEyGssLEDDVV	35.94	31908127
ANXA5	P08758	Phosphorylation	136	S136-p	yEEEyGssLEDDVVG	35.94	55370042
ANXA5	P08758	Methylation	18	R18-m1	DFPGFDErADAEtLR	35.94	57732980
ANXA5	P08758	Ubiquitination	186	K186-ub	LFQAGELkWGTDEEk	35.94	21128946
ANXA5	P08758	Ubiquitination	193	K193-ub	kWGTDEEkFITIFGT	35.94	21128950
ANXA5	P08758	Phosphorylation	23	T23-p	DErADAEtLRkAMkG	35.94	2358301
ANXA5	P08758	Ubiquitination	242	K242-ub	QLLLAVVkSIRsIPA	35.94	610815520

Showing 1 to 20 of 61 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Insertion - Frameshift

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
ANXA5	ENST00000296511	PD_03	skin	carcinoma	26907935	c.787G>T	p.G263W	Substitution - Missense	PATHOGENIC	.99303	Confirmed somatic variant	PMID: 24662767	NS	263
ANXA5	ENST00000296511	PD_03	skin	carcinoma	26909018	c.355C>A	p.P119T	Substitution - Missense	PATHOGENIC	.85647	Confirmed somatic variant	PMID: 24662767	NS	119
ANXA5	ENST00000296511	TCGA-EE-A2GK-06	skin	malignant_melanoma	26906458	c.372C>A	p.A124=	Substitution - coding silent	PATHOGENIC	.92226	Confirmed somatic variant	PMID: N/A	NS	124
ANXA5	ENST00000296511	tumor_4115001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	26908794	c.531+2169_531+2170insTTGGTTC	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ANXA5	ENST00000296511	PD7204a	breast	carcinoma	26906429	c.537A>C	p.L179F	Substitution - Missense		.60982	Confirmed somatic variant	PMID: N/A	primary	179
ANXA5	ENST00000296511	RK095_C01	liver	carcinoma	26908347	c.722-558G>T	p.?	Unknown	NEUTRAL	.01871	Confirmed somatic variant	PMID: N/A	NS	0
ANXA5	ENST00000296511	CHG-10-51040T	liver	other	26908582	c.133C>T	p.R45*	Substitution - Nonsense	PATHOGENIC	.91911	Confirmed somatic variant	PMID: N/A	primary	45
ANXA5	ENST00000296511	TCGA-AA-3492-01	large_intestine	carcinoma	26908092	c.451C>T	p.R151W	Substitution - Missense	PATHOGENIC	.8418	Confirmed somatic variant	PMID: N/A	NS	151
ANXA5	ENST00000296511	2014_Lung_sq_102_T	lung	carcinoma	26908217	c.10-1458G>A	p.?	Unknown	NEUTRAL	.06552	Confirmed somatic variant	PMID: N/A	primary	0
ANXA5	ENST00000296511	THCC_130T	liver	other	26909111	c.903+82T>C	p.?	Unknown	NEUTRAL	.01344	Confirmed somatic variant	PMID: N/A	primary	0
ANXA5	ENST00000296511	TCGA-AJ-A3EK-01	endometrium	carcinoma	26907831	c.870G>T	p.K290N	Substitution - Missense	PATHOGENIC	.95407	Confirmed somatic variant	PMID: N/A	NS	290
ANXA5	ENST00000296511	B65-Tumor	urinary_tract	carcinoma	26906563	c.-1C>T	p.?	Unknown	NEUTRAL	.29559	Confirmed somatic variant	PMID: N/A	NS	0
ANXA5	ENST00000296511	TCGA-B0-5098-01	kidney	carcinoma	26908657	c.261C>A	p.P87=	Substitution - coding silent	NEUTRAL	.02418	Variant of unknown origin	PMID: N/A	primary	87
ANXA5	ENST00000296511	TCGA-AJ-A3EK-01	endometrium	carcinoma	26907836	c.223G>A	p.G75R	Substitution - Missense	PATHOGENIC	.96771	Confirmed somatic variant	PMID: N/A	NS	75
ANXA5	ENST00000296511	LICA-CN-HCC019T	liver	other	26908077	c.429G>T	p.G143=	Substitution - coding silent	NEUTRAL	.2753	Confirmed somatic variant	PMID: N/A	primary	143
ANXA5	ENST00000296511	CPCG0238-F1	prostate	carcinoma	26906657	c.95-282G>A	p.?	Unknown	NEUTRAL	.0008	Confirmed somatic variant	PMID: N/A	primary	0
ANXA5	ENST00000296511	TUD-DA-781	small_intestine	carcinoma	26908772	c.679C>T	p.R227C	Substitution - Missense	PATHOGENIC	.85353	Confirmed somatic variant	PMID: 26804919	NS	227
ANXA5	ENST00000296511	HX14T	liver	carcinoma	26906411	c.94+242C>T	p.?	Unknown	NEUTRAL	.04576	Variant of unknown origin	PMID: N/A	primary	0
ANXA5	ENST00000296511	TCGA-20-1686-01	ovary	carcinoma	26906496	c.913T>A	p.S305T	Substitution - Missense	PATHOGENIC	.77055	Variant of unknown origin	PMID: N/A	primary	305
ANXA5	ENST00000296511	TCGA-AZ-4315-01	large_intestine	carcinoma	26907285	c.734G>A	p.R245Q	Substitution - Missense	PATHOGENIC	.97867	Confirmed somatic variant	PMID: N/A	NS	245

Showing 1 to 20 of 133 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
PF00191	Annexin	Annexin	19-84	Homo sapiens
PF00191	Annexin	Annexin	250-315	Homo sapiens
PF00191	Annexin	Annexin	91-156	Homo sapiens
PF00191	Annexin	Annexin	174-240	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Squamous cell carcinoma	Neoplasms ;	0.49	0.69
Hepatolenticular Degeneration	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.49	0.69
Leukemia, Myelocytic, Acute	Neoplasms ;	0.49	0.69
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.49	0.69
Malignant neoplasm of stomach	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Mouth Neoplasms	Neoplasms ; Stomatognathic Diseases ;	0.49	0.69
Acute Myeloid Leukemia, M1	Neoplasms ;	0.49	0.69
Pre-Eclampsia	Female Urogenital Diseases and Pregnancy Complications ;	0.49	0.69
Stomach Neoplasms	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Weight Gain	Pathological Conditions, Signs and Symptoms ;	0.49	0.69
Adenocarcinoma of lung (disorder)	Neoplasms ; Respiratory Tract Diseases ;	0.49	0.69
Malignant neoplasm of mouth	Neoplasms ; Stomatognathic Diseases ;	0.49	0.69
Hepatic Form of Wilson Disease	Digestive System Diseases ; Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Nutritional and Metabolic Diseases ;	0.49	0.69
Hereditary Diffuse Gastric Cancer	Neoplasms ; Digestive System Diseases ;	0.49	0.69
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.49	0.69
PREGNANCY LOSS, RECURRENT, SUSCEPTIBILITY TO, 3	N/A	0.49	0.69
NO RESULT FOUND

Description:	Xenopus tropicalis annexin A5 (anxa5), mRNA. [Source:RefSeq mRNA;Acc:NM_001008182]
Synonyms:	anx5, enx2
Other ID(s):	XB-GENE-1007295, ENSXETG00000021114
Protein Accession Numbers:	NP_001008183
Statistics:	ClinVar(3) gnomAD(264) COSMIC(133) PTM(61)

Classification of Clinicial Significance of ClinVar Data