ConVarT

ADCY7 (GeneID: 113) | Homo sapiens

Description:	adenylate cyclase 7 [Source:HGNC Symbol;Acc:HGNC:238]
Synonyms:	AC7
Other ID(s):	HGNC:238, ENSG00000121281
Protein Accession Numbers:	ENST00000538642, ENST00000254235, ENST00000569265, ENST00000566433, ENST00000537579, NP_001272986, ENST00000567277, ENST00000564965, ENST00000394697, NP_001105, ENST00000566761
Statistics:	gnomAD(566)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000254235 ENST00000394697 ENST00000537579 ENST00000538642 ENST00000564965 ENST00000566433 ENST00000566761 ENST00000567277 ENST00000569265 NP_001105 NP_001272986

ClinVar Data

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

Splice Region Variant

Stop Gained

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
16-50322103-G-T	ENST00000567277	p.Gly5Trp	Missense Variant	1	31398	0.000032	rs1193976892
16-50322104-G-A	ENST00000567277	p.Gly5Glu	Missense Variant	0	0	0	rs369539863
16-50322106-C-T	ENST00000567277	p.Arg6Cys	Missense Variant	4	31394	0.000127	rs764927746
16-50322107-G-A	ENST00000567277	p.Arg6His	Missense Variant	0	0	0	rs895114920
16-50322107-G-T	ENST00000567277	p.Arg6Leu	Missense Variant	0	0	0	rs895114920
16-50322110-A-G	ENST00000567277	p.Tyr7Cys	Missense Variant	0	0	0	rs1422867785
16-50322112-TTCC-T	ENST00000567277	p.Leu9del	Inframe Deletion	0	0	0	rs764318741
16-50322120-C-T	ENST00000567277	p.Asn10Asn	Synonymous Variant	1	31392	0.000032	rs367883473
16-50322121-G-A	ENST00000567277	p.Glu11Lys	Missense Variant	0	0	0	rs1351817893
16-50322126-C-T	ENST00000567277	p.Gly12Gly	Synonymous Variant	1	31390	0.000032	rs1025148390
16-50322127-G-A	ENST00000567277	p.Glu13Lys	Missense Variant	0	0	0	rs752356585
16-50322129-G-A	ENST00000567277	p.Glu13Glu	Synonymous Variant	0	0	0	rs1365997239
16-50322135-C-T	ENST00000567277	p.Gly15Gly	Synonymous Variant	1	31390	0.000032	rs758047984
16-50322139-G-T	ENST00000567277	p.Asp17Tyr	Missense Variant	0	0	0	rs1279348005
16-50322141-C-A	ENST00000567277	p.Asp17Glu	Missense Variant	0	0	0	rs1340457862
16-50322147-T-G	ENST00000567277	p.Asp19Glu	Missense Variant	1	31394	0.000032	rs1216192038
16-50322149-C-A	ENST00000567277	p.Ala20Glu	Missense Variant	0	0	0	rs200299180
16-50322149-C-T	ENST00000567277	p.Ala20Val	Missense Variant	1	31394	0.000032	rs200299180
16-50322150-G-A	ENST00000567277	p.Ala20Ala	Synonymous Variant	0	0	0	rs765896604
16-50322155-A-T	ENST00000567277	p.Tyr22Phe	Missense Variant	0	0	0	rs199714954

Showing 1 to 20 of 566 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

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	840-1055	CL0276	Nucleot_cyclase	Caenorhabditis elegans
PF00211	Guanylate_cyc	Adenylate and Guanylate cyclase catalytic domain	305-486	CL0276	Nucleot_cyclase	Caenorhabditis elegans

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

Classification of Clinicial Significance of ClinVar Data