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

Stop Lost

Stop Retained Variant

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
16-50322103-G-T	ENST00000254235	p.Gly5Trp	Missense Variant	1	31398	0.000032	rs1193976892
16-50322103-G-T	ENST00000394697	p.Gly5Trp	Missense Variant	1	31398	0.000032	rs1193976892
16-50322104-G-A	ENST00000254235	p.Gly5Glu	Missense Variant	0	0	0	rs369539863
16-50322104-G-A	ENST00000394697	p.Gly5Glu	Missense Variant	0	0	0	rs369539863
16-50322106-C-T	ENST00000254235	p.Arg6Cys	Missense Variant	4	31394	0.000127	rs764927746
16-50322106-C-T	ENST00000394697	p.Arg6Cys	Missense Variant	4	31394	0.000127	rs764927746
16-50322107-G-A	ENST00000254235	p.Arg6His	Missense Variant	0	0	0	rs895114920
16-50322107-G-A	ENST00000394697	p.Arg6His	Missense Variant	0	0	0	rs895114920
16-50322107-G-T	ENST00000254235	p.Arg6Leu	Missense Variant	0	0	0	rs895114920
16-50322107-G-T	ENST00000394697	p.Arg6Leu	Missense Variant	0	0	0	rs895114920
16-50322110-A-G	ENST00000254235	p.Tyr7Cys	Missense Variant	0	0	0	rs1422867785
16-50322110-A-G	ENST00000394697	p.Tyr7Cys	Missense Variant	0	0	0	rs1422867785
16-50322112-TTCC-T	ENST00000254235	p.Leu9del	Inframe Deletion	0	0	0	rs764318741
16-50322112-TTCC-T	ENST00000394697	p.Leu9del	Inframe Deletion	0	0	0	rs764318741
16-50322120-C-T	ENST00000254235	p.Asn10Asn	Synonymous Variant	1	31392	0.000032	rs367883473
16-50322120-C-T	ENST00000394697	p.Asn10Asn	Synonymous Variant	1	31392	0.000032	rs367883473
16-50322121-G-A	ENST00000254235	p.Glu11Lys	Missense Variant	0	0	0	rs1351817893
16-50322121-G-A	ENST00000394697	p.Glu11Lys	Missense Variant	0	0	0	rs1351817893
16-50322126-C-T	ENST00000254235	p.Gly12Gly	Synonymous Variant	1	31390	0.000032	rs1025148390
16-50322126-C-T	ENST00000394697	p.Gly12Gly	Synonymous Variant	1	31390	0.000032	rs1025148390

Showing 1 to 20 of 2,204 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
ADCY7	P51828	Ubiquitination	1006	K1006-ub	AGVIGARkPQYDIWG	120.31	22070930
ADCY7	P51828	Ubiquitination	1073	K1073-ub	FVCTDTAkFQGLGLN	120.31	573765242
ADCY7	P51828	Phosphorylation	154	S154-p	AVAVGAVstAsHLLV	120.31	23079829
ADCY7	P51828	Phosphorylation	155	T155-p	VAVGAVstAsHLLVL	120.31	23079838
ADCY7	P51828	Phosphorylation	157	S157-p	VGAVstAsHLLVLGS	120.31	23079832
ADCY7	P51828	Ubiquitination	214	K214-ub	DLFTYTVkCIQIRRK	120.31	41481638
ADCY7	P51828	Ubiquitination	273	K273-ub	NFHSLYVkRHQNVSI	120.31	12350231
ADCY7	P51828	Ubiquitination	316	K316-ub	GKFDQIAkANECMRI	120.31	41481641
ADCY7	P51828	Ubiquitination	324	K324-ub	ANECMRIkILGDCYY	120.31	573765230
ADCY7	P51828	Ubiquitination	349	K349-ub	THARNCVkMGLDMCQ	120.31	573765232
ADCY7	P51828	Ubiquitination	359	K359-ub	LDMCQAIkQVREAtG	120.31	573765234
ADCY7	P51828	Phosphorylation	365	T365-p	IkQVREAtGVDINMR	120.31	5243431
ADCY7	P51828	Ubiquitination	389	K389-ub	CGVIGLRkWQYDVWS	120.31	573765236
ADCY7	P51828	Ubiquitination	422	K422-ub	HITEATLkHLDkAYE	120.31	394794502
ADCY7	P51828	Acetylation	422	K422-ac	HITEATLkHLDkAYE	120.31	14320088
ADCY7	P51828	Ubiquitination	426	K426-ub	ATLkHLDkAYEVEDG	120.31	41481644
ADCY7	P51828	Acetylation	426	K426-ac	ATLkHLDkAYEVEDG	120.31	14320091
ADCY7	P51828	Ubiquitination	443	K443-ub	QQRDPYLkEMNIRTY	120.31	22070927
ADCY7	P51828	Ubiquitination	477	K477-ub	PKGDAALkMRASVRM	120.31	573765238
ADCY7	P51828	Phosphorylation	490	S490-p	RMTRYLEsWGAARPF	120.31	50830971

Showing 1 to 20 of 32 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - 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
ADCY7	ENST00000394697	GCTK_532_T	stomach	carcinoma	43923793	c.688-18C>T	p.?	Unknown	NEUTRAL	.12768	Confirmed somatic variant	PMID: N/A	primary	0
ADCY7	ENST00000394697	TCGA-GF-A2C7-01	skin	malignant_melanoma	43924813	c.1270C>A	p.L424M	Substitution - Missense	PATHOGENIC	.79715	Confirmed somatic variant	PMID: N/A	NS	424
ADCY7	ENST00000394697	389	oesophagus	carcinoma	43926764	c.670A>T	p.I224F	Substitution - Missense	PATHOGENIC	.72049	Confirmed somatic variant	PMID: 25151357	primary	224
ADCY7	ENST00000394697	T5	breast	carcinoma	43926234	c.1665G>A	p.G555=	Substitution - coding silent	NEUTRAL	.14237	Confirmed somatic variant	PMID: 26249178	NS	555
ADCY7	ENST00000394697	T3484	large_intestine	carcinoma	43924791	c.950C>G	p.A317G	Substitution - Missense	PATHOGENIC	.87569	Confirmed somatic variant	PMID: 27149842	NS	317
ADCY7	ENST00000394697	T_CCA_SG_15	biliary_tract	carcinoma	43922665	c.948+1626dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ADCY7	ENST00000394697	5-VS030-T1	skin	carcinoma	43928062	c.1755C>A	p.Y585*	Substitution - Nonsense	PATHOGENIC	.89506	Confirmed somatic variant	PMID: 26950094	NS	585
ADCY7	ENST00000394697	AOCS-135-3-1	ovary	carcinoma	43924185	c.1851-128G>T	p.?	Unknown	NEUTRAL	.0423	Confirmed somatic variant	PMID: N/A	NS	0
ADCY7	ENST00000394697	GB019T	central_nervous_system	glioma	43926049	c.1639G>T	p.D547Y	Substitution - Missense	PATHOGENIC	.95916	Confirmed somatic variant	PMID: N/A	primary	547
ADCY7	ENST00000394697	TCGA-ES-A2HT-01	liver	carcinoma	43926435	c.2639T>C	p.V880A	Substitution - Missense	PATHOGENIC	.97884	Confirmed somatic variant	PMID: N/A	NS	880
ADCY7	ENST00000394697	TNKTL24	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	43927014	c.836+355dup	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
ADCY7	ENST00000394697	5-VS056-T1	skin	carcinoma	43926515	c.1579C>T	p.R527C	Substitution - Missense	PATHOGENIC	.75187	Confirmed somatic variant	PMID: 26950094	NS	527
ADCY7	ENST00000394697	STC232	stomach	carcinoma	43923321	c.668G>A	p.R223H	Substitution - Missense	PATHOGENIC	.70968	Confirmed somatic variant	PMID: 25042771	primary	223
ADCY7	ENST00000394697	CPCG0005-F1	prostate	carcinoma	43926253	c.1753-137G>T	p.?	Unknown	NEUTRAL	.07821	Confirmed somatic variant	PMID: N/A	primary	0
ADCY7	ENST00000394697	2293776	adrenal_gland	adrenal_cortical_carcinoma	43923720	c.1030G>T	p.A344S	Substitution - Missense	PATHOGENIC	.96684	Confirmed somatic variant	PMID: 24747642	NS	344
ADCY7	ENST00000394697	TCGA-23-1120-01	ovary	carcinoma	43927888	c.1806_1807insTGG	p.L602_I603insW	Insertion - In frame			Confirmed somatic variant	PMID: 21720365	primary	602
ADCY7	ENST00000394697	NAN11	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	43923563	c.2847C>T	p.H949=	Substitution - coding silent	NEUTRAL	.27374	Variant of unknown origin	PMID: 30545397	primary	949
ADCY7	ENST00000394697	CHG-12-01579T	liver	other	43922810	c.376-58G>T	p.?	Unknown	NEUTRAL	.0971	Confirmed somatic variant	PMID: N/A	primary	0
ADCY7	ENST00000394697	T3673	large_intestine	carcinoma	43923422	c.340G>A	p.D114N	Substitution - Missense	NEUTRAL	.05644	Confirmed somatic variant	PMID: 27149842	NS	114
ADCY7	ENST00000394697	GCYC_133_T	stomach	carcinoma	43927088	c.2186G>A	p.G729D	Substitution - Missense	PATHOGENIC	.87953	Confirmed somatic variant	PMID: N/A	primary	729

Showing 1 to 20 of 735 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
PF00211	Guanylate_cyc	Adenylate and Guanylate cyclase catalytic domain	870-1069	CL0276	Nucleot_cyclase	Homo sapiens
PF00211	Guanylate_cyc	Adenylate and Guanylate cyclase catalytic domain	270-451	CL0276	Nucleot_cyclase	Homo sapiens
PF06327	DUF1053	Domain of Unknown Function (DUF1053)	485-593	CL0276	Nucleot_cyclase	Homo sapiens
PF16214	AC_N	Adenylyl cyclase N-terminal extracellular and transmembrane region	15-256			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Alcoholic Intoxication, Chronic	Chemically-Induced Disorders ; Mental Disorders ;	0.685	0.345
Ulcerative Colitis	Digestive System Diseases ;	0.685	0.345
Mental Depression	Behavior and Behavior Mechanisms ;	0.685	0.345
Depressive disorder	Mental Disorders ;	0.685	0.345
Leukemia, Myelocytic, Acute	Neoplasms ;	0.685	0.345
Acute Myeloid Leukemia, M1	Neoplasms ;	0.685	0.345
Schizophrenia	Mental Disorders ;	0.685	0.345
Unipolar Depression	Mental Disorders ;	0.685	0.345
Juvenile-Onset Still Disease	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.685	0.345
Mood Disorders	Mental Disorders ;	0.685	0.345
Major Depressive Disorder	Mental Disorders ;	0.685	0.345
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.685	0.345
Juvenile arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.685	0.345
Juvenile psoriatic arthritis	Musculoskeletal Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ;	0.685	0.345
NO RESULT FOUND

Description:	adenylate cyclase 7 [Source:RGD Symbol;Acc:619966]
Synonyms:
Other ID(s):	ENSRNOG00000014776
Protein Accession Numbers:	XP_017456873, XP_017456881, XP_017456870, XP_017456878, XP_017456875, XP_017456872, XP_017456880, XP_008770643, XP_017456877, XP_017456874, XP_017456882, XP_017456871, XP_017456879, NP_445848, XP_017456876
Statistics:	ClinVar(5) gnomAD(2204) COSMIC(735) PTM(32)

Classification of Clinicial Significance of ClinVar Data