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

Stop Gained

Stop Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	rsNumber	Flags
1-151955639-C-T	ENST00000368809	p.Ter98Ter	Stop Retained Variant	rs767755911
1-151955639-C-T	ENST00000368811	p.Ter98Ter	Stop Retained Variant	rs767755911
1-151955641-A-C	ENST00000368809	p.Ter98GluextTer28	Stop Lost	rs1803287
1-151955641-A-C	ENST00000368811	p.Ter98GluextTer28	Stop Lost	rs1803287
1-151955641-ACTT-A	ENST00000368809	p.Lys97del	Inframe Deletion	rs1803287
1-151955641-ACTT-A	ENST00000368811	p.Lys97del	Inframe Deletion	rs1803287
1-151955654-C-A	ENST00000368809	p.Gln93His	Missense Variant	rs942351107
1-151955654-C-A	ENST00000368811	p.Gln93His	Missense Variant	rs942351107
1-151955657-C-T	ENST00000368809	p.Lys92Lys	Synonymous Variant	rs1228982223
1-151955657-C-T	ENST00000368811	p.Lys92Lys	Synonymous Variant	rs1228982223
1-151955658-T-C	ENST00000368809	p.Lys92Arg	Missense Variant	rs1300464136
1-151955658-T-C	ENST00000368811	p.Lys92Arg	Missense Variant	rs1300464136
1-151955661-ATG-A	ENST00000368809	p.Met91GlufsTer17	Frameshift Variant	rs775340337	lc_lof
1-151955661-ATG-A	ENST00000368811	p.Met91GlufsTer17	Frameshift Variant	rs775340337	lc_lof
1-151955665-G-A	ENST00000368809	p.His90Tyr	Missense Variant	rs1208096040
1-151955665-G-A	ENST00000368811	p.His90Tyr	Missense Variant	rs1208096040
1-151955667-A-G	ENST00000368809	p.Val89Ala	Missense Variant	rs753595185
1-151955667-A-G	ENST00000368811	p.Val89Ala	Missense Variant	rs753595185
1-151955674-A-G	ENST00000368809	p.Phe87Leu	Missense Variant	rs1486083274
1-151955674-A-G	ENST00000368811	p.Phe87Leu	Missense Variant	rs1486083274

Showing 1 to 20 of 146 entries

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Post-translational Modifications (PTMs)

Acetylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
S100A10	P60903	Ubiquitination	18	K18-ub	TMMFTFHkFAGDkGy	11.2	22251477
S100A10	P60903	Ubiquitination	23	K23-ub	FHkFAGDkGyLtkED	11.2	63727742
S100A10	P60903	Acetylation	23	K23-ac	FHkFAGDkGyLtkED	11.2	11317619
S100A10	P60903	Phosphorylation	25	Y25-p	kFAGDkGyLtkEDLR	11.2	456173
S100A10	P60903	Phosphorylation	27	T27-p	AGDkGyLtkEDLRVL	11.2	12428257
S100A10	P60903	Ubiquitination	28	K28-ub	GDkGyLtkEDLRVLM	11.2	21184036
S100A10	P60903	Acetylation	28	K28-ac	GDkGyLtkEDLRVLM	11.2	11317615
S100A10	P60903	Ubiquitination	37	K37-ub	DLRVLMEkEFPGFLE	11.2	4953583
S100A10	P60903	Acetylation	37	K37-ac	DLRVLMEkEFPGFLE	11.2	479503
S100A10	P60903	Ubiquitination	47	K47-ub	PGFLENQkDPLAVDk	11.2	4953889
S100A10	P60903	Ubiquitination	54	K54-ub	kDPLAVDkIMkDLDQ	11.2	22251474
S100A10	P60903	Acetylation	54	K54-ac	kDPLAVDkIMkDLDQ	11.2	11317627
S100A10	P60903	Ubiquitination	57	K57-ub	LAVDkIMkDLDQCRD	11.2	4953894
S100A10	P60903	Acetylation	57	K57-ac	LAVDkIMkDLDQCRD	11.2	11317623
S100A10	P60903	Phosphorylation	86	Y86-p	LTIACNDyFVVHMKQ	11.2	6154522

Showing 1 to 15 of 15 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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
S100A10	ENST00000368811	T4430	large_intestine	carcinoma	35500661	c.22G>A	p.A8T	Substitution - Missense	PATHOGENIC	.95188	Confirmed somatic variant	PMID: 27149842	NS	8
S100A10	ENST00000368811	tumor_4177376	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	35500535	c.-22+2854A>T	p.?	Unknown	NEUTRAL	.03154	Confirmed somatic variant	PMID: N/A	NS	0
S100A10	ENST00000368811	T3724	large_intestine	carcinoma	35500752	c.-21-68del	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
S100A10	ENST00000368811	ESO-0255	oesophagus	carcinoma	35500451	c.*48dup	p.?	Unknown			Variant of unknown origin	PMID: 23525077	primary	0
S100A10	ENST00000368811	C0100T	kidney	NS	35500517	c.-22+3620G>C	p.?	Unknown	NEUTRAL	.08721	Confirmed somatic variant	PMID: N/A	NS	0
S100A10	ENST00000368811	HCC136T	liver	carcinoma	35500453	c.133-155del	p.?	Unknown			Reported in another cancer sample as somatic	PMID: N/A	primary	0
S100A10	ENST00000368811	TCGA-KQ-A41N-01	urinary_tract	carcinoma	35500511	c.57C>A	p.F19L	Substitution - Missense	PATHOGENIC	.73817	Confirmed somatic variant	PMID: N/A	primary	19
S100A10	ENST00000368811	PCSI_0105_Pa_P_526	pancreas	carcinoma	35500925	c.-22+3248G>C	p.?	Unknown	NEUTRAL	.0471	Confirmed somatic variant	PMID: N/A	primary	0
S100A10	ENST00000368811	OV207	ovary	carcinoma	35500534	c.133-4del	p.?	Unknown			Reported in another cancer sample as somatic	PMID: 22102435	NS	0
S100A10	ENST00000368811	CPCG0205-F1	prostate	carcinoma	35500436	c.-142G>A	p.?	Unknown	NEUTRAL	.0279	Confirmed somatic variant	PMID: N/A	primary	0
S100A10	ENST00000368811	RK057_C01	liver	carcinoma	35500910	c.-21-3341C>G	p.?	Unknown	NEUTRAL	.0381	Confirmed somatic variant	PMID: N/A	NS	0
S100A10	ENST00000368811	T_CCA_JP_5	biliary_tract	carcinoma	35500409	c.133-155dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
S100A10	ENST00000368811	RK007_C01	liver	carcinoma	35500873	c.-22+2602A>G	p.?	Unknown	NEUTRAL	.13816	Variant of unknown origin	PMID: N/A	primary	0
S100A10	ENST00000368811	T3174	large_intestine	carcinoma	35500686	c.-21-68dup	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
S100A10	ENST00000368811	TCGA-CV-6937-01	upper_aerodigestive_tract	carcinoma	35500427	c.183G>T	p.Q61H	Substitution - Missense	PATHOGENIC	.73307	Confirmed somatic variant	PMID: N/A	NS	61
S100A10	ENST00000368811	RK019_C01	liver	carcinoma	35500683	c.-21-198A>G	p.?	Unknown	NEUTRAL	.01572	Reported in another cancer sample as somatic	PMID: N/A	primary	0
S100A10	ENST00000368811	T_CCA_RO_4	biliary_tract	carcinoma	35500409	c.133-155dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
S100A10	ENST00000368811	TCGA-D1-A1NZ-01	endometrium	carcinoma	35500744	c.*77C>A	p.?	Unknown	NEUTRAL	.25298	Confirmed somatic variant	PMID: N/A	NS	0
S100A10	ENST00000368811	T3729	large_intestine	carcinoma	35500752	c.-21-68del	p.?	Unknown			Confirmed somatic variant	PMID: 27149842	NS	0
S100A10	ENST00000368811	ESCC_143	oesophagus	carcinoma	35500937	c.230C>T	p.A77V	Substitution - Missense	PATHOGENIC	.83583	Confirmed somatic variant	PMID: 26873401	NS	77

Showing 1 to 20 of 92 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
PF01023	S_100	S-100/ICaBP type calcium binding domain	5-46	CL0220	EF_hand	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Bipolar Disorder	Mental Disorders ;	0.598	0.552
Mental Depression	Behavior and Behavior Mechanisms ;	0.598	0.552
Endogenous depression	Mental Disorders ;	0.598	0.552
Depressive disorder	Mental Disorders ;	0.598	0.552
Keloid	Skin and Connective Tissue Diseases ; Pathological Conditions, Signs and Symptoms ;	0.598	0.552
Leukemia, Myelocytic, Acute	Neoplasms ;	0.598	0.552
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.598	0.552
Major depression, single episode	N/A	0.598	0.552
Medulloblastoma	Neoplasms ;	0.598	0.552
Melancholia	Mental Disorders ;	0.598	0.552
Acute Myeloid Leukemia, M1	Neoplasms ;	0.598	0.552
Unipolar Depression	Mental Disorders ;	0.598	0.552
Depressive Syndrome	Mental Disorders ;	0.598	0.552
Medullomyoblastoma	Neoplasms ;	0.598	0.552
Childhood Medulloblastoma	Neoplasms ;	0.598	0.552
Adult Medulloblastoma	Neoplasms ;	0.598	0.552
Depression, Neurotic	Mental Disorders ;	0.598	0.552
Depressed mood	N/A	0.598	0.552
Depressive episode, unspecified	N/A	0.598	0.552
Mood Disorders	Mental Disorders ;	0.598	0.552
Desmoplastic Medulloblastoma	Neoplasms ;	0.598	0.552
Major Depressive Disorder	Mental Disorders ;	0.598	0.552
Melanotic medulloblastoma	Neoplasms ;	0.598	0.552
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.598	0.552
NO RESULT FOUND

Description:	S100 calcium binding protein A10 (calpactin) [Source:MGI Symbol;Acc:MGI:1339468]
Synonyms:	p10, CAL12, 42C, LP11, AL024248, p11, Cal1l, AA409961
Other ID(s):	ENSMUSG00000041959, MGI:1339468
Protein Accession Numbers:	XP_017174997, NP_033138
Statistics:	gnomAD(146) COSMIC(92) PTM(15)

Classification of Clinicial Significance of ClinVar Data