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

Protein Altering 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	Filter
12-99042144-G-A	ENST00000551964	p.Ala3Thr	Missense Variant	2	31410	0.000064	rs1216860579
12-99042146-A-G	ENST00000551964	p.Ala3Ala	Synonymous Variant	0	0	0	rs1256360487
12-99042153-C-G	ENST00000551964	p.Arg6Gly	Missense Variant	0	0	0	rs776606994
12-99042159-T-C	ENST00000551964	p.Cys8Arg	Missense Variant	0	0	0	rs761730145
12-99042160-G-T	ENST00000551964	p.Cys8Phe	Missense Variant	0	0	0	rs765077795
12-99042170-A-G	ENST00000551964	p.Gln11Gln	Synonymous Variant	3	31410	0.000096	rs1257437408
12-99042174-A-G	ENST00000551964	p.Arg13Gly	Missense Variant	0	0	0	rs966090697
12-99042175-G-A	ENST00000551964	p.Arg13Lys	Missense Variant	1	31394	0.000032	rs373035647
12-99042178-A-G	ENST00000551964	p.Glu14Gly	Missense Variant	0	0	0	rs1250804010
12-99042185-G-A	ENST00000551964	p.Leu16Leu	Synonymous Variant	0	0	0	rs762601497
12-99042195-A-G	ENST00000551964	p.Ile20Val	Missense Variant	0	0	0	rs368174559
12-99042197-C-G	ENST00000551964	p.Ile20Met	Missense Variant	1	31394	0.000032	rs1363526414
12-99042204-T-C	ENST00000551964	p.Ser23Pro	Missense Variant	0	0	0	rs751071524
12-99042207-T-C	ENST00000551964	p.Tyr24His	Missense Variant	1	31400	0.000032	rs1254715652	RF
12-99042208-A-G	ENST00000551964	p.Tyr24Cys	Missense Variant	5	31404	0.000159	rs150457288
12-99042209-C-T	ENST00000551964	p.Tyr24Tyr	Synonymous Variant	0	0	0	rs781643760
12-99042213-A-G	ENST00000551964	p.Met26Val	Missense Variant	0	0	0	rs753165073
12-99042226-T-C	ENST00000551964	p.Ile30Thr	Missense Variant	0	0	0	rs1323939935
12-99042229-G-A	ENST00000551964	p.Ser31Asn	Missense Variant	0	0	0	rs756482718
12-99042229-G-C	ENST00000551964	p.Ser31Thr	Missense Variant	0	0	0	rs756482718

Showing 1 to 20 of 925 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
APAF1	O14727	Ubiquitination	1048	K1048-ub	RGHQETVkDFRLLKN	141.84	964498480
APAF1	O14727	Ubiquitination	1077	K1077-ub	WNIITGNkEkDFVCH	141.84	964498482
APAF1	O14727	Ubiquitination	1079	K1079-ub	IITGNkEkDFVCHQG	141.84	964498484
APAF1	O14727	Ubiquitination	1099	K1099-ub	DISHDATkFSStSAD	141.84	964498486
APAF1	O14727	Phosphorylation	1103	T1103-p	DATkFSStSADktAK	141.84	25282931
APAF1	O14727	Ubiquitination	1107	K1107-ub	FSStSADktAKIWSF	141.84	964498488
APAF1	O14727	Phosphorylation	1108	T1108-p	SStSADktAKIWSFD	141.84	25282934
APAF1	O14727	Ubiquitination	1222	K1222-ub	TNGTNLKkIHVSPDF	141.84	964498490
APAF1	O14727	Ubiquitination	131	K131-ub	VVFVTRKkLVNAIQQ	141.84	964498492
APAF1	O14727	Ubiquitination	139	K139-ub	LVNAIQQkLSKLkGE	141.84	964498494
APAF1	O14727	Ubiquitination	144	K144-ub	QQkLSKLkGEPGWVT	141.84	964498496
APAF1	O14727	Phosphorylation	161	S161-p	GMAGCGKsVLAAEAV	141.84	155354532
APAF1	O14727	Ubiquitination	189	K189-ub	VHWVSVGkQDkSGLL	141.84	964498498
APAF1	O14727	Ubiquitination	192	K192-ub	VSVGkQDkSGLLMkL	141.84	964498500
APAF1	O14727	Ubiquitination	198	K198-ub	DkSGLLMkLQNLCTR	141.84	573757188
APAF1	O14727	Ubiquitination	224	K224-ub	PLNIEEAkDRLRILM	141.84	21129052
APAF1	O14727	Phosphorylation	238	S238-p	MLRKHPRsLLILDDV	141.84	470166
APAF1	O14727	Phosphorylation	24	Y24-p	EKDIKTSyIMDHMIs	141.84	34357545
APAF1	O14727	Phosphorylation	248	S248-p	ILDDVWDsWVLKAFD	141.84	470167
APAF1	O14727	Ubiquitination	267	K267-ub	ILLTTRDksVTDsVM	141.84	573757190

Showing 1 to 20 of 55 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

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
APAF1	ENST00000551964	TCGA-QK-A6VB-01	upper_aerodigestive_tract	carcinoma	86497861	c.634T>C	p.F212L	Substitution - Missense	PATHOGENIC	.90889	Confirmed somatic variant	PMID: N/A	primary	212
APAF1	ENST00000551964	TCGA-94-8491-01	lung	carcinoma	86497906	c.3190G>C	p.D1064H	Substitution - Missense	PATHOGENIC	.99	Confirmed somatic variant	PMID: N/A	primary	1064
APAF1	ENST00000551964	PD_03	skin	carcinoma	86497815	c.2608G>A	p.D870N	Substitution - Missense	PATHOGENIC	.91035	Confirmed somatic variant	PMID: 24662767	NS	870
APAF1	ENST00000551964	PD_03	skin	carcinoma	86497805	c.1696C>T	p.L566=	Substitution - coding silent		.64092	Confirmed somatic variant	PMID: 24662767	NS	566
APAF1	ENST00000551964	W10T	thyroid	carcinoma	86492408	c.3350T>C	p.L1117P	Substitution - Missense	NEUTRAL	.04168	Confirmed somatic variant	PMID: N/A	primary	1117
APAF1	ENST00000551964	2689678	salivary_gland	carcinoma	86495868	c.1633C>T	p.Q545*	Substitution - Nonsense	PATHOGENIC	.95624	Confirmed somatic variant	PMID: 29084941	NS	545
APAF1	ENST00000551964	T_CCA_TH_12	biliary_tract	carcinoma	86492895	c.1363-405_1363-404dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
APAF1	ENST00000551964	DN12035	breast	carcinoma	86493112	c.1495-906C>G	p.?	Unknown	NEUTRAL	.00294	Confirmed somatic variant	PMID: N/A	primary	0
APAF1	ENST00000551964	XG7	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	86492702	c.2345A>C	p.N782T	Substitution - Missense	PATHOGENIC	.8902	Variant of unknown origin	PMID: 30545397	NS	782
APAF1	ENST00000551964	5-VS018-T1	skin	carcinoma	86494378	c.1197G>A	p.V399=	Substitution - coding silent	NEUTRAL	.48521	Confirmed somatic variant	PMID: 26950094	NS	399
APAF1	ENST00000551964	GBM20-R3	central_nervous_system	glioma	86493379	c.2753C>T	p.S918F	Substitution - Missense	PATHOGENIC	.90853	Confirmed somatic variant	PMID: 28263318	recurrent	918
APAF1	ENST00000551964	DN12035	breast	carcinoma	86495752	c.*568A>C	p.?	Unknown	NEUTRAL	.00074	Confirmed somatic variant	PMID: N/A	primary	0
APAF1	ENST00000551964	CPCG0523-F1	prostate	carcinoma	86498008	c.1494+1335A>G	p.?	Unknown	NEUTRAL	.32882	Confirmed somatic variant	PMID: N/A	primary	0
APAF1	ENST00000551964	W34T	thyroid	carcinoma	86492508	c.1210T>A	p.W404R	Substitution - Missense	PATHOGENIC	.9853	Confirmed somatic variant	PMID: N/A	primary	404
APAF1	ENST00000551964	RK025_C01	liver	carcinoma	86492411	c.2305-1655T>C	p.?	Unknown	PATHOGENIC	.8461	Reported in another cancer sample as somatic	PMID: N/A	primary	0
APAF1	ENST00000551964	PD6722a	breast	carcinoma	86495633	c.2305-6197G>C	p.?	Unknown	NEUTRAL	.04669	Confirmed somatic variant	PMID: N/A	primary	0
APAF1	ENST00000551964	RK101_C01	liver	carcinoma	86496294	c.3601-1474A>C	p.?	Unknown	NEUTRAL	.03961	Confirmed somatic variant	PMID: N/A	NS	0
APAF1	ENST00000551964	PS-286-5D	prostate	carcinoma	86492310	c.3017T>A	p.V1006E	Substitution - Missense	PATHOGENIC	.97797	Confirmed somatic variant	PMID: 24870262	NS	1006
APAF1	ENST00000551964	MBC_179	breast	carcinoma	86492985	c.557C>A	p.S186*	Substitution - Nonsense	PATHOGENIC	.98843	Confirmed somatic variant	PMID: 28027327	metastasis	186
APAF1	ENST00000551964	BD114T	biliary_tract	carcinoma	86494270	c.2466+43G>A	p.?	Unknown	NEUTRAL	.00698	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 406 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
PF00619	CARD	Caspase recruitment domain	6-90	CL0041	Death	Homo sapiens
PF00931	NB-ARC	NB-ARC domain	129-374	CL0023	P-loop_NTPase	Homo sapiens
PF17908	APAF1_C	APAF-1 helical domain	453-587			Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	733-771	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	1118-1155	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	647-685	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	872-910	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	689-729	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	1167-1203	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	605-643	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	1075-1113	CL0186	Beta_propeller	Homo sapiens
PF00400	WD40	WD domain, G-beta repeat	992-1031	CL0186	Beta_propeller	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
Carcinoma, Transitional Cell	Neoplasms ;	0.545	0.655
Eye Abnormalities	Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.545	0.655
Liver Cirrhosis, Experimental	Digestive System Diseases ;	0.545	0.655
Retinal Detachment	Eye Diseases ;	0.545	0.655
Skin Abnormalities	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Skin and Connective Tissue Diseases ;	0.545	0.655
Unipolar Depression	Mental Disorders ;	0.545	0.655
Conventional (Clear Cell) Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
Retinal Pigment Epithelial Detachment	Eye Diseases ;	0.545	0.655
Craniofacial Abnormalities	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.545	0.655
Chromophobe Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
Sarcomatoid Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
Collecting Duct Carcinoma of the Kidney	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
Major Depressive Disorder	Mental Disorders ;	0.545	0.655
Papillary Renal Cell Carcinoma	Neoplasms ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.545	0.655
NO RESULT FOUND

Description:	Death-associated APAF1-related killer [Source:FlyBase;Acc:FBgn0263864]
Synonyms:	ark/Hac-1/dApaf1, APAF1, Dark/Hac-1/dApaf-1, apaf, Dapaf-1/HAC-1, Ark, Hac-1/Dark, Apaf-1/DARK/HAC-1, dark, dAPAF-1, arc, hac-1, APAF-1, dapaf-1S
Other ID(s):	FBgn0263864
Protein Accession Numbers:	NP_725638, NP_725637
Statistics:	ClinVar(10) gnomAD(925) COSMIC(406) PTM(55)

Classification of Clinicial Significance of ClinVar Data