ADCY6 (adenylate cyclase 6) - Rat Genome Database

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Gene: ADCY6 (adenylate cyclase 6) Homo sapiens
Analyze
Symbol: ADCY6
Name: adenylate cyclase 6
RGD ID: 735837
HGNC Page HGNC:237
Description: Enables adenylate cyclase activity and protein kinase C binding activity. Involved in several processes, including cAMP biosynthetic process; cellular response to alcohol; and dopamine receptor signaling pathway. Predicted to be located in plasma membrane. Implicated in lethal congenital contracture syndrome.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC6; adenylate cyclase type 6; adenylate cyclase type VI; adenylyl cyclase 6; ATP pyrophosphate-lyase 6; ca(2+)-inhibitable adenylyl cyclase; DKFZp779F075; KIAA0422; LCCS8
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,766,194 - 48,789,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,766,194 - 48,789,089 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,159,977 - 49,182,872 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,446,248 - 47,469,087 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,446,247 - 47,469,087NCBI
Celera1247,955,885 - 47,978,715 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,193,406 - 46,216,105 (-)NCBIHuRef
CHM1_11249,125,807 - 49,148,636 (-)NCBICHM1_1
T2T-CHM13v2.01248,728,221 - 48,752,002 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2-butoxyethanol  (ISO)
2-methylcholine  (EXP)
3,3',4,4'-tetrachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP,ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-(ethoxymethylene)-2-phenyloxazol-5-one  (ISO)
acrylamide  (EXP,ISO)
aflatoxin B1  (ISO)
ammonium chloride  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
azoxystrobin  (ISO)
benzo[a]pyrene  (EXP,ISO)
bexarotene  (ISO)
bis(2-chloroethyl) sulfide  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP)
buspirone  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
chlordecone  (ISO)
chlorpyrifos  (ISO)
colforsin daropate hydrochloride  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
dexamethasone  (EXP,ISO)
dextran sulfate  (ISO)
dibutyl phthalate  (ISO)
diclofenac  (EXP)
diethylstilbestrol  (ISO)
diuron  (ISO)
dobutamine  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
folpet  (ISO)
FR900359  (EXP)
furan  (ISO)
glyphosate  (ISO)
imidacloprid  (ISO)
indometacin  (EXP,ISO)
isoprenaline  (ISO)
ketoconazole  (ISO)
L-ascorbic acid  (EXP)
leflunomide  (EXP)
Licarin A  (ISO)
manganese(II) chloride  (ISO)
methamphetamine  (ISO)
morphine  (ISO)
nickel atom  (EXP)
Nor-9-carboxy-delta9-THC  (EXP)
paclitaxel  (EXP)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (ISO)
phosgene  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
selenium atom  (EXP)
silicon dioxide  (EXP)
starch  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
temozolomide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thiabendazole  (ISO)
titanium dioxide  (ISO)
toluene 2,4-diisocyanate  (ISO)
triclosan  (ISO)
valproic acid  (EXP)
vitamin E  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cilium  (IEA)
endosome  (ISO)
membrane  (ISS)
microvillus membrane  (ISO)
plasma membrane  (IBA,IEA,ISS,TAS)
sarcolemma  (ISO)
stereocilium  (IEA)

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Physiology and pathophysiology of the vasopressin-regulated renal water reabsorption. Boone M and Deen PM, Pflugers Arch. 2008 Sep;456(6):1005-24. Epub 2008 Apr 23.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Cellular localization of type 5 and type 6 ACs in collecting duct and regulation of cAMP synthesis. Helies-Toussaint C, etal., Am J Physiol Renal Physiol. 2000 Jul;279(1):F185-94.
4. Angiotensin II regulates V2 receptor and pAQP2 during ureteral obstruction. Jensen AM, etal., Am J Physiol Renal Physiol. 2009 Jan;296(1):F127-34. Epub 2008 Oct 29.
5. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
6. Indomethacin enhances shuttling of aquaporin-2 despite decreased abundance in rat kidney. Kim SW, etal., J Am Soc Nephrol. 2004 Dec;15(12):2998-3005.
7. Glucagon-mediated internalization of serine-phosphorylated glucagon receptor and Gsalpha in rat liver. Merlen C, etal., FEBS Lett. 2006 Oct 16;580(24):5697-704. Epub 2006 Sep 20.
8. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
9. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.
Additional References at PubMed
PMID:2165385   PMID:7937899   PMID:7959689   PMID:8034296   PMID:8125298   PMID:8663304   PMID:9228084   PMID:9388262   PMID:9417641   PMID:9455477   PMID:9920805   PMID:10089566  
PMID:10481931   PMID:10807185   PMID:10808179   PMID:10978539   PMID:11162902   PMID:11299302   PMID:11549699   PMID:11884542   PMID:12168954   PMID:12477932   PMID:12503609   PMID:12626323  
PMID:12748066   PMID:12782409   PMID:14871025   PMID:14993377   PMID:15302935   PMID:15470083   PMID:15489334   PMID:16631311   PMID:16713569   PMID:16885208   PMID:16973443   PMID:17007567  
PMID:17081159   PMID:17110384   PMID:17916776   PMID:18403039   PMID:18936250   PMID:19007881   PMID:19546162   PMID:20732959   PMID:20861226   PMID:21228062   PMID:21873635   PMID:22810586  
PMID:23842570   PMID:24319099   PMID:25049074   PMID:25187353   PMID:26186194   PMID:26760575   PMID:27067484   PMID:27173435   PMID:28514442   PMID:29117863   PMID:29262264   PMID:29327289  
PMID:29443612   PMID:30021884   PMID:30639242   PMID:31068382   PMID:31383768   PMID:31753913   PMID:31846058   PMID:31871319   PMID:31886586   PMID:32513696   PMID:33845483   PMID:33961781  
PMID:34079125   PMID:36380368   PMID:36688959  


Genomics

Comparative Map Data
ADCY6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,766,194 - 48,789,974 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,766,194 - 48,789,089 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,159,977 - 49,182,872 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,446,248 - 47,469,087 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,446,247 - 47,469,087NCBI
Celera1247,955,885 - 47,978,715 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,193,406 - 46,216,105 (-)NCBIHuRef
CHM1_11249,125,807 - 49,148,636 (-)NCBICHM1_1
T2T-CHM13v2.01248,728,221 - 48,752,002 (-)NCBIT2T-CHM13v2.0
Adcy6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,484,982 - 98,508,119 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,487,854 - 98,507,957 (-)EnsemblGRCm39 Ensembl
GRCm381598,589,978 - 98,610,287 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,589,973 - 98,610,076 (-)EnsemblGRCm38mm10GRCm38
MGSCv371598,420,409 - 98,438,064 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361598,418,012 - 98,435,667 (-)NCBIMGSCv36mm8
Celera15100,737,585 - 100,755,761 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.59NCBI
Adcy6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,621,860 - 131,642,923 (-)NCBIGRCr8
mRatBN7.27129,742,827 - 129,763,922 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,742,838 - 129,763,754 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7131,550,191 - 131,571,121 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,775,741 - 133,796,673 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,688,243 - 133,709,175 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07140,270,678 - 140,291,722 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,270,692 - 140,291,620 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X114,774,376 - 114,795,062 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,339,933 - 137,360,020 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17137,418,113 - 137,437,246 (-)NCBI
Celera7126,233,455 - 126,254,162 (-)NCBICelera
Cytogenetic Map7q36NCBI
Adcy6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555007,637,089 - 7,651,162 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555007,635,946 - 7,655,579 (-)NCBIChiLan1.0ChiLan1.0
ADCY6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,391,604 - 45,415,339 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,388,364 - 45,412,100 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,957,394 - 39,981,049 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,836,922 - 40,859,131 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,836,922 - 40,859,131 (+)Ensemblpanpan1.1panPan2
ADCY6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,739,514 - 5,752,888 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,733,586 - 5,752,888 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2740,504,946 - 40,518,306 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,784,673 - 5,805,753 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,788,872 - 5,805,745 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,754,314 - 5,767,654 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,744,379 - 5,757,707 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02740,897,201 - 40,910,552 (-)NCBIUU_Cfam_GSD_1.0
Adcy6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,529,608 - 66,572,952 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,615,012 - 6,629,165 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,612,708 - 6,629,202 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl514,834,426 - 14,850,728 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1514,834,420 - 14,855,309 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2515,128,970 - 15,146,987 (-)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY6
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,006,220 - 45,031,481 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,005,637 - 45,025,501 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037201,115,865 - 201,140,244 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy6
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,366,744 - 3,387,447 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248163,366,594 - 3,387,431 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY6
102 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_015270.3(ADCY6):c.*86G>A single nucleotide variant Lung cancer [RCV000111094] Chr12:48768505 [GRCh38]
Chr12:49162288 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
NM_015270.5(ADCY6):c.3346C>T (p.Arg1116Cys) single nucleotide variant Lethal congenital contracture syndrome 8 [RCV000169693] Chr12:48768972 [GRCh38]
Chr12:49162755 [GRCh37]
Chr12:12q13.12		 pathogenic|not provided
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_015270.5(ADCY6):c.2975A>G (p.Tyr992Cys) single nucleotide variant Lethal congenital contracture syndrome 8 [RCV000235049] Chr12:48771786 [GRCh38]
Chr12:49165569 [GRCh37]
Chr12:12q13.12		 likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:48961450-49255821)x3 copy number gain See cases [RCV000448103] Chr12:48961450..49255821 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
NM_015270.5(ADCY6):c.706T>C (p.Ser236Pro) single nucleotide variant Inborn genetic diseases [RCV003254073] Chr12:48782729 [GRCh38]
Chr12:49176512 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3479A>G (p.Tyr1160Cys) single nucleotide variant Inborn genetic diseases [RCV003295594] Chr12:48768619 [GRCh38]
Chr12:49162402 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1511A>G (p.His504Arg) single nucleotide variant Inborn genetic diseases [RCV003282320] Chr12:48776452 [GRCh38]
Chr12:49170235 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.766C>T (p.Arg256Cys) single nucleotide variant Inborn genetic diseases [RCV003295911] Chr12:48782669 [GRCh38]
Chr12:49176452 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:49055179-49466566)x3 copy number gain not provided [RCV000750395] Chr12:49055179..49466566 [GRCh37]
Chr12:12q13.11-13.12		 benign
NM_015270.5(ADCY6):c.636C>T (p.Ser212=) single nucleotide variant ADCY6-related condition [RCV003975948]|not provided [RCV001678893] Chr12:48782799 [GRCh38]
Chr12:49176582 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3051+88G>A single nucleotide variant not provided [RCV001681559] Chr12:48771622 [GRCh38]
Chr12:49165405 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1437C>T (p.Arg479=) single nucleotide variant not provided [RCV001690577] Chr12:48776526 [GRCh38]
Chr12:49170309 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1678A>G (p.Lys560Glu) single nucleotide variant Inborn genetic diseases [RCV003268329] Chr12:48776091 [GRCh38]
Chr12:49169874 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3193C>T (p.Arg1065Trp) single nucleotide variant not provided [RCV000994910] Chr12:48770829 [GRCh38]
Chr12:49164612 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.679G>A (p.Ala227Thr) single nucleotide variant Inborn genetic diseases [RCV003268523] Chr12:48782756 [GRCh38]
Chr12:49176539 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3291C>T (p.Ile1097=) single nucleotide variant not provided [RCV000971032] Chr12:48769027 [GRCh38]
Chr12:49162810 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.273C>T (p.Phe91=) single nucleotide variant ADCY6-related condition [RCV003906091]|not provided [RCV000975253] Chr12:48783162 [GRCh38]
Chr12:49176945 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.3363G>A (p.Gly1121=) single nucleotide variant not provided [RCV000914711] Chr12:48768955 [GRCh38]
Chr12:49162738 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.27C>T (p.Val9=) single nucleotide variant not provided [RCV000904415] Chr12:48783408 [GRCh38]
Chr12:49177191 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.711G>A (p.Ala237=) single nucleotide variant not provided [RCV000901160] Chr12:48782724 [GRCh38]
Chr12:49176507 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3052-9G>A single nucleotide variant not provided [RCV000902084] Chr12:48770979 [GRCh38]
Chr12:49164762 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1692C>T (p.Ala564=) single nucleotide variant not provided [RCV000972165] Chr12:48776077 [GRCh38]
Chr12:49169860 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1678-6G>A single nucleotide variant ADCY6-related condition [RCV003933107]|not provided [RCV000922297] Chr12:48776097 [GRCh38]
Chr12:49169880 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.865-4G>T single nucleotide variant not provided [RCV000926766] Chr12:48778261 [GRCh38]
Chr12:49172044 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.354C>T (p.Cys118=) single nucleotide variant not provided [RCV000933124] Chr12:48783081 [GRCh38]
Chr12:49176864 [GRCh37]
Chr12:12q13.12		 likely benign
GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1 copy number loss Kabuki syndrome 1 [RCV000859976] Chr12:49034325..49468966 [GRCh37]
Chr12:12q13.11-13.12		 pathogenic
NM_015270.5(ADCY6):c.471G>C (p.Ala157=) single nucleotide variant not provided [RCV000921657] Chr12:48782964 [GRCh38]
Chr12:49176747 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1678-4A>G single nucleotide variant not provided [RCV000931844] Chr12:48776095 [GRCh38]
Chr12:49169878 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.2029C>A (p.Leu677Met) single nucleotide variant ADCY6-related condition [RCV003928589]|not provided [RCV000974535] Chr12:48775006 [GRCh38]
Chr12:49168789 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.327C>T (p.Asp109=) single nucleotide variant ADCY6-related condition [RCV003953358]|not provided [RCV000976598] Chr12:48783108 [GRCh38]
Chr12:49176891 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1640T>C (p.Ile547Thr) single nucleotide variant not provided [RCV000891540] Chr12:48776246 [GRCh38]
Chr12:49170029 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3186C>T (p.Tyr1062=) single nucleotide variant not provided [RCV000915871] Chr12:48770836 [GRCh38]
Chr12:49164619 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1311G>T (p.Pro437=) single nucleotide variant not provided [RCV000916083] Chr12:48777169 [GRCh38]
Chr12:49170952 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.11-13.12(chr12:48944713-49265377)x3 copy number gain not provided [RCV000849162] Chr12:48944713..49265377 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
NM_015270.5(ADCY6):c.1027C>G (p.Leu343Val) single nucleotide variant Lethal congenital contracture syndrome 8 [RCV001198197] Chr12:48777724 [GRCh38]
Chr12:49171507 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2621+50T>G single nucleotide variant not provided [RCV001641509] Chr12:48773419 [GRCh38]
Chr12:49167202 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1014+101A>G single nucleotide variant not provided [RCV001666125] Chr12:48778007 [GRCh38]
Chr12:49171790 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.346C>A (p.Arg116=) single nucleotide variant ADCY6-related condition [RCV003975907]|not provided [RCV001676154] Chr12:48783089 [GRCh38]
Chr12:49176872 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3256+67C>T single nucleotide variant not provided [RCV001685992] Chr12:48770699 [GRCh38]
Chr12:49164482 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.2283+57C>G single nucleotide variant not provided [RCV001718485] Chr12:48774345 [GRCh38]
Chr12:49168128 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.519C>G (p.Pro173=) single nucleotide variant not provided [RCV000909834] Chr12:48782916 [GRCh38]
Chr12:49176699 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1935G>A (p.Val645=) single nucleotide variant not provided [RCV000915395] Chr12:48775348 [GRCh38]
Chr12:49169131 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1410C>T (p.Asn470=) single nucleotide variant not provided [RCV000974269] Chr12:48776553 [GRCh38]
Chr12:49170336 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1535+7del deletion not provided [RCV000907479] Chr12:48776421 [GRCh38]
Chr12:49170204 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1333C>A (p.His445Asn) single nucleotide variant Inborn genetic diseases [RCV002548454]|not provided [RCV000981491] Chr12:48777147 [GRCh38]
Chr12:49170930 [GRCh37]
Chr12:12q13.12		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_015270.5(ADCY6):c.6A>G (p.Ser2=) single nucleotide variant not provided [RCV000926795] Chr12:48783429 [GRCh38]
Chr12:49177212 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.101G>A (p.Arg34Gln) single nucleotide variant not provided [RCV000902238] Chr12:48783334 [GRCh38]
Chr12:49177117 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1239G>A (p.Lys413=) single nucleotide variant not provided [RCV000929377] Chr12:48777419 [GRCh38]
Chr12:49171202 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.186G>T (p.Arg62=) single nucleotide variant not provided [RCV000913311] Chr12:48783249 [GRCh38]
Chr12:49177032 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.2247C>T (p.Ser749=) single nucleotide variant not provided [RCV000890817] Chr12:48774438 [GRCh38]
Chr12:49168221 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1833-29A>T single nucleotide variant not provided [RCV001661158] Chr12:48775479 [GRCh38]
Chr12:49169262 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1376+168C>T single nucleotide variant not provided [RCV001608668] Chr12:48776936 [GRCh38]
Chr12:49170719 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1377-56G>A single nucleotide variant not provided [RCV001656644] Chr12:48776642 [GRCh38]
Chr12:49170425 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1981-11C>G single nucleotide variant not provided [RCV001613729] Chr12:48775065 [GRCh38]
Chr12:49168848 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3382-99C>T single nucleotide variant not provided [RCV001713930] Chr12:48768815 [GRCh38]
Chr12:49162598 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.2622-155C>A single nucleotide variant not provided [RCV001610856] Chr12:48772698 [GRCh38]
Chr12:49166481 [GRCh37]
Chr12:12q13.12		 benign
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
ADCY6, TYR992CYS variation Lethal congenital contracture syndrome 8 [RCV001290105] Chr12:12q13.12 pathogenic
NM_015270.5(ADCY6):c.1535+1G>A single nucleotide variant Lethal congenital contracture syndrome 8 [RCV001290106] Chr12:48776427 [GRCh38]
Chr12:49170210 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_015270.5(ADCY6):c.3007G>A (p.Glu1003Lys) single nucleotide variant Lethal congenital contracture syndrome 8 [RCV001290107] Chr12:48771754 [GRCh38]
Chr12:49165537 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_015270.5(ADCY6):c.2442+40G>T single nucleotide variant not provided [RCV001675388] Chr12:48773900 [GRCh38]
Chr12:49167683 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.2621+109A>T single nucleotide variant not provided [RCV001669371] Chr12:48773360 [GRCh38]
Chr12:49167143 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.865-279G>A single nucleotide variant not provided [RCV001651700] Chr12:48778536 [GRCh38]
Chr12:49172319 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3052-72A>G single nucleotide variant not provided [RCV001691728] Chr12:48771042 [GRCh38]
Chr12:49164825 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1904G>A (p.Arg635His) single nucleotide variant not provided [RCV001508334] Chr12:48775379 [GRCh38]
Chr12:49169162 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_015270.5(ADCY6):c.1711C>T (p.Arg571Trp) single nucleotide variant not provided [RCV002261942] Chr12:48776058 [GRCh38]
Chr12:49169841 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2833C>G (p.Arg945Gly) single nucleotide variant not provided [RCV002261940] Chr12:48771928 [GRCh38]
Chr12:49165711 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1999C>A (p.Pro667Thr) single nucleotide variant not provided [RCV002261941] Chr12:48775036 [GRCh38]
Chr12:49168819 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.184C>T (p.Arg62Trp) single nucleotide variant not provided [RCV002261943] Chr12:48783251 [GRCh38]
Chr12:49177034 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.682C>G (p.Leu228Val) single nucleotide variant Inborn genetic diseases [RCV002839624] Chr12:48782753 [GRCh38]
Chr12:49176536 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2668G>A (p.Gly890Arg) single nucleotide variant Inborn genetic diseases [RCV002817544] Chr12:48772414 [GRCh38]
Chr12:49166197 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1700C>T (p.Ala567Val) single nucleotide variant Inborn genetic diseases [RCV002906776] Chr12:48776069 [GRCh38]
Chr12:49169852 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1774C>T (p.Arg592Trp) single nucleotide variant Inborn genetic diseases [RCV002762303] Chr12:48775995 [GRCh38]
Chr12:49169778 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.140T>C (p.Leu47Pro) single nucleotide variant Inborn genetic diseases [RCV002782133] Chr12:48783295 [GRCh38]
Chr12:49177078 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2027C>T (p.Ala676Val) single nucleotide variant Inborn genetic diseases [RCV002924313] Chr12:48775008 [GRCh38]
Chr12:49168791 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3488A>T (p.Asn1163Ile) single nucleotide variant Inborn genetic diseases [RCV002930007] Chr12:48768610 [GRCh38]
Chr12:49162393 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3412G>A (p.Ala1138Thr) single nucleotide variant Inborn genetic diseases [RCV002850481] Chr12:48768686 [GRCh38]
Chr12:49162469 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2897G>A (p.Arg966His) single nucleotide variant Inborn genetic diseases [RCV002743975] Chr12:48771864 [GRCh38]
Chr12:49165647 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.124C>T (p.Arg42Cys) single nucleotide variant Inborn genetic diseases [RCV002827690] Chr12:48783311 [GRCh38]
Chr12:49177094 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.78G>T (p.Lys26Asn) single nucleotide variant Inborn genetic diseases [RCV002873832] Chr12:48783357 [GRCh38]
Chr12:49177140 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.928G>A (p.Ala310Thr) single nucleotide variant Inborn genetic diseases [RCV002891323] Chr12:48778194 [GRCh38]
Chr12:49171977 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2734C>T (p.His912Tyr) single nucleotide variant Inborn genetic diseases [RCV002747851] Chr12:48772348 [GRCh38]
Chr12:49166131 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2026G>A (p.Ala676Thr) single nucleotide variant Inborn genetic diseases [RCV002769398] Chr12:48775009 [GRCh38]
Chr12:49168792 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1613G>A (p.Arg538His) single nucleotide variant Inborn genetic diseases [RCV002792934] Chr12:48776273 [GRCh38]
Chr12:49170056 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2188C>T (p.Arg730Cys) single nucleotide variant Inborn genetic diseases [RCV002809085] Chr12:48774497 [GRCh38]
Chr12:49168280 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1937G>A (p.Arg646His) single nucleotide variant Inborn genetic diseases [RCV002674865] Chr12:48775346 [GRCh38]
Chr12:49169129 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3238A>T (p.Asn1080Tyr) single nucleotide variant Inborn genetic diseases [RCV002722779] Chr12:48770784 [GRCh38]
Chr12:49164567 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.446A>G (p.Gln149Arg) single nucleotide variant Inborn genetic diseases [RCV002677756] Chr12:48782989 [GRCh38]
Chr12:49176772 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1463G>A (p.Arg488Gln) single nucleotide variant Inborn genetic diseases [RCV002657039] Chr12:48776500 [GRCh38]
Chr12:49170283 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1442A>G (p.His481Arg) single nucleotide variant Inborn genetic diseases [RCV003281896] Chr12:48776521 [GRCh38]
Chr12:49170304 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.728T>G (p.Val243Gly) single nucleotide variant Inborn genetic diseases [RCV003198329] Chr12:48782707 [GRCh38]
Chr12:49176490 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2634T>G (p.Asn878Lys) single nucleotide variant Inborn genetic diseases [RCV003181171] Chr12:48772531 [GRCh38]
Chr12:49166314 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2914T>A (p.Tyr972Asn) single nucleotide variant Inborn genetic diseases [RCV003376366] Chr12:48771847 [GRCh38]
Chr12:49165630 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.365T>G (p.Leu122Arg) single nucleotide variant Inborn genetic diseases [RCV003381839] Chr12:48783070 [GRCh38]
Chr12:49176853 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.437A>G (p.Gln146Arg) single nucleotide variant Inborn genetic diseases [RCV003350144] Chr12:48782998 [GRCh38]
Chr12:49176781 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2866G>A (p.Val956Met) single nucleotide variant Inborn genetic diseases [RCV003347567] Chr12:48771895 [GRCh38]
Chr12:49165678 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.2323C>T (p.Arg775Trp) single nucleotide variant Inborn genetic diseases [RCV003383309] Chr12:48774059 [GRCh38]
Chr12:49167842 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.3178G>C (p.Ala1060Pro) single nucleotide variant not provided [RCV003482063] Chr12:48770844 [GRCh38]
Chr12:49164627 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.520G>A (p.Ala174Thr) single nucleotide variant Lethal congenital contracture syndrome 8 [RCV003493263] Chr12:48782915 [GRCh38]
Chr12:49176698 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.583_585del (p.Met195del) deletion Lethal congenital contracture syndrome 8 [RCV003493264] Chr12:48782850..48782852 [GRCh38]
Chr12:49176633..49176635 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.1425C>T (p.Ile475=) single nucleotide variant ADCY6-related condition [RCV003941520] Chr12:48776538 [GRCh38]
Chr12:49170321 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.321G>T (p.Ala107=) single nucleotide variant ADCY6-related condition [RCV003919400] Chr12:48783114 [GRCh38]
Chr12:49176897 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.2793A>G (p.Thr931=) single nucleotide variant ADCY6-related condition [RCV003906788] Chr12:48771968 [GRCh38]
Chr12:49165751 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.852C>T (p.Phe284=) single nucleotide variant ADCY6-related condition [RCV003958999] Chr12:48782583 [GRCh38]
Chr12:49176366 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.267G>T (p.Leu89=) single nucleotide variant ADCY6-related condition [RCV003954576] Chr12:48783168 [GRCh38]
Chr12:49176951 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.678C>T (p.Gly226=) single nucleotide variant ADCY6-related condition [RCV003964674] Chr12:48782757 [GRCh38]
Chr12:49176540 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1032G>A (p.Ser344=) single nucleotide variant ADCY6-related condition [RCV003964700] Chr12:48777719 [GRCh38]
Chr12:49171502 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.2894G>A (p.Arg965His) single nucleotide variant ADCY6-related condition [RCV003931552] Chr12:48771867 [GRCh38]
Chr12:49165650 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.1431C>T (p.Ser477=) single nucleotide variant ADCY6-related condition [RCV003964519] Chr12:48776532 [GRCh38]
Chr12:49170315 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.2020G>T (p.Ala674Ser) single nucleotide variant ADCY6-related condition [RCV003976575] Chr12:48775015 [GRCh38]
Chr12:49168798 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.3153G>A (p.Val1051=) single nucleotide variant ADCY6-related condition [RCV003893648] Chr12:48770869 [GRCh38]
Chr12:49164652 [GRCh37]
Chr12:12q13.12		 likely benign
NM_015270.5(ADCY6):c.143G>T (p.Arg48Leu) single nucleotide variant Inborn genetic diseases [RCV003359461] Chr12:48783292 [GRCh38]
Chr12:49177075 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.105A>C (p.Ala35=) single nucleotide variant not provided [RCV001641983] Chr12:48783330 [GRCh38]
Chr12:49177113 [GRCh37]
Chr12:12q13.12		 benign
NM_015270.5(ADCY6):c.1917G>T (p.Gln639His) single nucleotide variant Inborn genetic diseases [RCV003299221] Chr12:48775366 [GRCh38]
Chr12:49169149 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.815T>C (p.Leu272Ser) single nucleotide variant Inborn genetic diseases [RCV003378554] Chr12:48782620 [GRCh38]
Chr12:49176403 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_015270.5(ADCY6):c.142C>T (p.Arg48Trp) single nucleotide variant Inborn genetic diseases [RCV003359460] Chr12:48783293 [GRCh38]
Chr12:49177076 [GRCh37]
Chr12:12q13.12		 uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR96hsa-miR-96-5pMirtarbaseexternal_infoSequencingFunctional MTI (Weak)20371350
MIR96hsa-miR-96-3pMirecordsexternal_infoNANA17597072
MIR182hsa-miR-182-5pMirtarbaseexternal_infoLuciferase reporter assay//qRT-PCRFunctional MTI20656788
MIR182hsa-miR-182-3pMirecordsexternal_infoNANA17597072

Predicted Target Of
Summary Value
Count of predictions:5991
Count of miRNA genes:1117
Interacting mature miRNAs:1428
Transcripts:ENST00000307885, ENST00000357869, ENST00000547260, ENST00000548351, ENST00000548820, ENST00000550422, ENST00000551435, ENST00000552090, ENST00000552099
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
A006M44  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,160,062 - 49,160,276UniSTSGRCh37
Build 361247,446,329 - 47,446,543RGDNCBI36
Celera1247,955,972 - 47,956,186RGD
Cytogenetic Map12q12-q13UniSTS
HuRef1246,193,493 - 46,193,707UniSTS
GeneMap99-GB4 RH Map12216.01UniSTS
ADCY6_211  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,159,959 - 49,160,818UniSTSGRCh37
Build 361247,446,226 - 47,447,085RGDNCBI36
Celera1247,955,869 - 47,956,728RGD
HuRef1246,193,390 - 46,194,249UniSTS
RH78534  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,160,242 - 49,160,360UniSTSGRCh37
Build 361247,446,509 - 47,446,627RGDNCBI36
Celera1247,956,152 - 47,956,270RGD
Cytogenetic Map12q12-q13UniSTS
HuRef1246,193,673 - 46,193,791UniSTS
GeneMap99-GB4 RH Map12215.19UniSTS
NCBI RH Map12392.9UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2410 2169 1387 304 366 151 3642 1591 2277 331 1264 1516 163 1203 2220 4 1
Low 28 118 335 320 669 314 715 604 1455 88 196 92 11 1 1 568 2 1
Below cutoff 1 701 4 838 2 2 5

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_042166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001390830 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001390831 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412819 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412820 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412821 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001412822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_015270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_182049 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006719210 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017018743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047428173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370901 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001748565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA628691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB007882 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC117498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250226 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF250227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225224 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294446 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC064923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF511227 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537664 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U65474 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000307885   ⟹   ENSP00000311405
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,766,329 - 48,784,129 (-)Ensembl
RefSeq Acc Id: ENST00000357869   ⟹   ENSP00000350536
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,766,194 - 48,789,089 (-)Ensembl
RefSeq Acc Id: ENST00000547260
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,766,194 - 48,774,496 (-)Ensembl
RefSeq Acc Id: ENST00000548351
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,771,743 - 48,774,024 (-)Ensembl
RefSeq Acc Id: ENST00000548820   ⟹   ENSP00000447702
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,777,672 - 48,778,424 (-)Ensembl
RefSeq Acc Id: ENST00000550422   ⟹   ENSP00000446730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,766,198 - 48,789,037 (-)Ensembl
RefSeq Acc Id: ENST00000551435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,776,294 - 48,778,185 (-)Ensembl
RefSeq Acc Id: ENST00000552090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,773,943 - 48,776,484 (-)Ensembl
RefSeq Acc Id: ENST00000552099
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,771,257 - 48,774,754 (-)Ensembl
RefSeq Acc Id: NM_001390830   ⟹   NP_001377759
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,089 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,751,118 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001390831   ⟹   NP_001377760
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,784,238 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,746,267 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001412819   ⟹   NP_001399748
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,974 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,752,002 (-)NCBI
RefSeq Acc Id: NM_001412820   ⟹   NP_001399749
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,651 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,751,679 (-)NCBI
RefSeq Acc Id: NM_001412821   ⟹   NP_001399750
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,552 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,751,581 (-)NCBI
RefSeq Acc Id: NM_001412822   ⟹   NP_001399751
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,552 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,751,581 (-)NCBI
RefSeq Acc Id: NM_015270   ⟹   NP_056085
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,789,089 (-)NCBI
GRCh371249,159,975 - 49,182,820 (-)ENTREZGENE
Build 361247,446,248 - 47,464,179 (-)NCBI Archive
HuRef1246,193,406 - 46,216,105 (-)ENTREZGENE
CHM1_11249,125,806 - 49,148,695 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,751,118 (-)NCBI
Sequence:
RefSeq Acc Id: NR_182049
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,784,238 (-)NCBI
T2T-CHM13v2.01248,728,221 - 48,746,267 (-)NCBI
RefSeq Acc Id: XM_006719210   ⟹   XP_006719273
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,788,856 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017018743   ⟹   XP_016874232
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,784,129 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047428173   ⟹   XP_047284129
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,766,194 - 48,788,856 (-)NCBI
RefSeq Acc Id: XM_054370900   ⟹   XP_054226875
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,728,221 - 48,750,885 (-)NCBI
RefSeq Acc Id: XM_054370901   ⟹   XP_054226876
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,728,221 - 48,750,885 (-)NCBI
RefSeq Acc Id: XM_054370902   ⟹   XP_054226877
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01248,728,221 - 48,746,158 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_056085   ⟸   NM_015270
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006719273   ⟸   XM_006719210
- Peptide Label: isoform X1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016874232   ⟸   XM_017018743
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: ENSP00000311405   ⟸   ENST00000307885
RefSeq Acc Id: ENSP00000447702   ⟸   ENST00000548820
RefSeq Acc Id: ENSP00000446730   ⟸   ENST00000550422
RefSeq Acc Id: ENSP00000350536   ⟸   ENST00000357869
RefSeq Acc Id: NP_001377759   ⟸   NM_001390830
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001377760   ⟸   NM_001390831
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047284129   ⟸   XM_047428173
- Peptide Label: isoform X1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001399748   ⟸   NM_001412819
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001399749   ⟸   NM_001412820
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001399750   ⟸   NM_001412821
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: NP_001399751   ⟸   NM_001412822
- Peptide Label: isoform 1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054226875   ⟸   XM_054370900
- Peptide Label: isoform X1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054226876   ⟸   XM_054370901
- Peptide Label: isoform X1
- UniProtKB: Q9NR75 (UniProtKB/Swiss-Prot),   O43306 (UniProtKB/Swiss-Prot),   Q9UDB0 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054226877   ⟸   XM_054370902
- Peptide Label: isoform X2
Protein Domains
Adenylate cyclase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43306-F1-model_v2 AlphaFold O43306 1-1168 view protein structure

Promoters
RGD ID:6789629
Promoter ID:HG_KWN:15518
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   Lymphoblastoid
Transcripts:UC001RSI.2,   UC001RSJ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,468,896 - 47,469,767 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:237 AgrOrtholog
COSMIC ADCY6 COSMIC
Ensembl Genes ENSG00000174233 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000307885 ENTREZGENE
  ENST00000307885.4 UniProtKB/Swiss-Prot
  ENST00000357869 ENTREZGENE
  ENST00000357869.8 UniProtKB/Swiss-Prot
  ENST00000548820.1 UniProtKB/TrEMBL
  ENST00000550422 ENTREZGENE
  ENST00000550422.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot
GTEx ENSG00000174233 GTEx
HGNC ID HGNC:237 ENTREZGENE
Human Proteome Map ADCY6 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot
  A/G_cyclase_CS UniProtKB/Swiss-Prot
  AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy UniProtKB/Swiss-Prot
  Adcy_conserved_dom UniProtKB/Swiss-Prot
  Nucleotide_cyclase UniProtKB/Swiss-Prot
KEGG Report hsa:112 UniProtKB/Swiss-Prot
NCBI Gene 112 ENTREZGENE
OMIM 600294 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADENYLATE CYCLASE TYPE 6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1053 UniProtKB/Swiss-Prot
  Guanylate_cyc UniProtKB/Swiss-Prot
PharmGKB PA27 PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot
SMART CYCc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot
UniProt ADCY6_HUMAN UniProtKB/Swiss-Prot
  F8VZJ5_HUMAN UniProtKB/TrEMBL
  O43306 ENTREZGENE
  Q9NR75 ENTREZGENE
  Q9UDB0 ENTREZGENE
UniProt Secondary Q9NR75 UniProtKB/Swiss-Prot
  Q9UDB0 UniProtKB/Swiss-Prot