ADCY9 (adenylate cyclase 9) - Rat Genome Database

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Gene: ADCY9 (adenylate cyclase 9) Homo sapiens
Analyze
Symbol: ADCY9
Name: adenylate cyclase 9
RGD ID: 1312370
HGNC Page HGNC:240
Description: Enables adenylate cyclase activity. Involved in adenylate cyclase-activating adrenergic receptor signaling pathway and cAMP biosynthetic process. Located in ciliary basal body; cytosol; and plasma membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC9; ACIX; adenylate cyclase type 9; adenylate cyclase type IX; adenylyl cyclase 9; ATP pyrophosphate-lyase 9; FLJ12046; type IX ATP pyrophosphate-lyase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,953,387 - 4,116,442 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl163,953,387 - 4,116,442 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,012,654 - 4,166,443 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,952,653 - 4,106,187 (-)NCBINCBI36Build 36hg18NCBI36
Build 34163,952,653 - 4,106,187NCBI
Celera164,219,322 - 4,372,878 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef163,981,028 - 4,147,934 (-)NCBIHuRef
CHM1_1164,012,672 - 4,166,128 (-)NCBICHM1_1
T2T-CHM13v2.0163,980,710 - 4,143,751 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
(1->4)-beta-D-glucan  (ISO)
(S)-amphetamine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
amitrole  (ISO)
antirheumatic drug  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
caffeine  (EXP)
calcium atom  (EXP)
calcium(0)  (EXP)
cannabidiol  (ISO)
cannabigerol  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clotrimazole  (EXP,ISO)
colforsin daropate hydrochloride  (ISO)
coumarin  (EXP)
Cuprizon  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (EXP,ISO)
dicrotophos  (EXP)
dorsomorphin  (EXP)
econazole  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
fenthion  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
FR900359  (EXP)
gentamycin  (ISO)
isoprenaline  (EXP)
ketamine  (ISO)
lead(0)  (EXP)
leflunomide  (EXP)
methoxychlor  (ISO)
miconazole  (EXP,ISO)
nitrates  (ISO)
Nor-9-carboxy-delta9-THC  (EXP)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
pirinixic acid  (ISO)
propiconazole  (ISO)
resveratrol  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
tacrolimus hydrate  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISO)
ciliary basal body  (IDA)
cilium  (IDA)
cytosol  (IDA)
dendrite  (IEA,ISO)
membrane  (IDA,IEA)
plasma membrane  (IBA,IDA,IEA,TAS)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
3. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. 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.
7. Molecular analysis, mutation screening, and association study of adenylate cyclase type 9 gene (ADCY9) in mood disorders. Toyota T, etal., Am J Med Genet 2002 Jan 8;114(1):84-92.
Additional References at PubMed
PMID:2165385   PMID:8662814   PMID:8663304   PMID:9417641   PMID:9628581   PMID:9628827   PMID:10089566   PMID:10807185   PMID:10808179   PMID:10987815   PMID:11299302   PMID:11884542  
PMID:12082561   PMID:12168954   PMID:12477932   PMID:12503609   PMID:12626323   PMID:12972952   PMID:14702039   PMID:14993377   PMID:14996950   PMID:15879435   PMID:16344560   PMID:17081983  
PMID:19156168   PMID:20101707   PMID:20157112   PMID:20175803   PMID:20459687   PMID:20522523   PMID:20935630   PMID:21873635   PMID:22778270   PMID:23563607   PMID:24269684   PMID:24722286  
PMID:24861553   PMID:25277244   PMID:25468996   PMID:25583994   PMID:25959651   PMID:26186194   PMID:26638075   PMID:27880917   PMID:28076799   PMID:28514442   PMID:29292367   PMID:29395067  
PMID:29507755   PMID:29568061   PMID:30121334   PMID:30639242   PMID:31056421   PMID:31753913   PMID:31871319   PMID:32515353   PMID:32788342   PMID:32877691   PMID:33232543   PMID:33326832  
PMID:33416140   PMID:33845483   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34609279   PMID:34672954   PMID:34709727   PMID:35748872   PMID:35844135   PMID:36111722   PMID:36657828  
PMID:36976175   PMID:37579959   PMID:37774976   PMID:37931956   PMID:38117590   PMID:38569033   PMID:39231216  


Genomics

Comparative Map Data
ADCY9
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38163,953,387 - 4,116,442 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl163,953,387 - 4,116,442 (-)EnsemblGRCh38hg38GRCh38
GRCh37164,012,654 - 4,166,443 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36163,952,653 - 4,106,187 (-)NCBINCBI36Build 36hg18NCBI36
Build 34163,952,653 - 4,106,187NCBI
Celera164,219,322 - 4,372,878 (-)NCBICelera
Cytogenetic Map16p13.3NCBI
HuRef163,981,028 - 4,147,934 (-)NCBIHuRef
CHM1_1164,012,672 - 4,166,128 (-)NCBICHM1_1
T2T-CHM13v2.0163,980,710 - 4,143,751 (-)NCBIT2T-CHM13v2.0
Adcy9
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39164,102,750 - 4,255,094 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl164,105,393 - 4,238,362 (-)EnsemblGRCm39 Ensembl
GRCm38164,284,886 - 4,437,236 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl164,287,529 - 4,420,498 (-)EnsemblGRCm38mm10GRCm38
MGSCv37164,287,545 - 4,419,587 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36164,202,773 - 4,334,815 (-)NCBIMGSCv36mm8
Celera164,922,515 - 5,047,165 (-)NCBICelera
Cytogenetic Map16A1NCBI
cM Map162.42NCBI
Adcy9
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81011,645,373 - 11,768,462 (+)NCBIGRCr8
mRatBN7.21011,138,966 - 11,262,067 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1011,139,446 - 11,262,066 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1015,846,829 - 15,969,423 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01015,335,642 - 15,458,268 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01011,004,905 - 11,127,632 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01011,392,698 - 11,515,406 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1011,392,625 - 11,512,600 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01010,152,945 - 10,164,223 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41011,482,858 - 11,521,569 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11011,482,857 - 11,519,755 (+)NCBI
Celera1010,096,039 - 10,218,487 (+)NCBICelera
Cytogenetic Map10q12NCBI
Adcy9
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495544213,310,289 - 13,434,971 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495544213,310,289 - 13,433,816 (+)NCBIChiLan1.0ChiLan1.0
ADCY9
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2184,487,059 - 4,638,305 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1168,270,126 - 8,422,945 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0162,882,687 - 3,034,275 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1164,056,636 - 4,207,864 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl164,059,736 - 4,207,430 (-)Ensemblpanpan1.1panPan2
ADCY9
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1637,213,251 - 37,334,820 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl637,213,227 - 37,331,563 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha638,541,290 - 38,662,535 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0637,425,913 - 37,547,345 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl637,425,366 - 37,544,352 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1637,211,737 - 37,333,186 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0637,104,933 - 37,226,390 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0637,506,497 - 37,627,896 (+)NCBIUU_Cfam_GSD_1.0
Adcy9
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024409344106,257,728 - 106,373,188 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936694336,269 - 452,943 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936694336,269 - 449,490 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY9
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl338,103,923 - 38,303,538 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1338,117,211 - 38,303,600 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2339,139,208 - 39,228,426 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY9
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.153,641,359 - 3,796,697 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl53,641,349 - 3,796,198 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366606826,918,925 - 27,157,685 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy9
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248241,777,141 - 1,939,071 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248241,777,141 - 1,902,324 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY9
145 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001116.3(ADCY9):c.1694-42690C>G single nucleotide variant Lung cancer [RCV000099914] Chr16:4050248 [GRCh38]
Chr16:4100249 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3(chr16:3710449-4644951)x3 copy number gain See cases [RCV000050956] Chr16:3710449..4644951 [GRCh38]
Chr16:3760450..4694952 [GRCh37]
Chr16:3700451..4634953 [NCBI36]
Chr16:16p13.3
uncertain significance
GRCh38/hg38 16p13.3(chr16:2717952-4041020)x3 copy number gain See cases [RCV000052395] Chr16:2717952..4041020 [GRCh38]
Chr16:2767953..4091021 [GRCh37]
Chr16:2707954..4031022 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:3493167-3993345)x3 copy number gain See cases [RCV000052396] Chr16:3493167..3993345 [GRCh38]
Chr16:3543167..4043346 [GRCh37]
Chr16:3483168..3983347 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3 copy number gain See cases [RCV000052367] Chr16:23141..11296695 [GRCh38]
Chr16:73141..11390552 [GRCh37]
Chr16:13141..11298053 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:2850734-7110697)x1 copy number loss See cases [RCV000053270] Chr16:2850734..7110697 [GRCh38]
Chr16:2900735..7160698 [GRCh37]
Chr16:2840736..7100699 [NCBI36]
Chr16:16p13.3
pathogenic
NM_001116.3(ADCY9):c.3602G>A (p.Gly1201Asp) single nucleotide variant Malignant melanoma [RCV000071122] Chr16:3966235 [GRCh38]
Chr16:4016236 [GRCh37]
Chr16:3956237 [NCBI36]
Chr16:16p13.3
not provided
NM_001116.3(ADCY9):c.3192C>T (p.Ile1064=) single nucleotide variant Malignant melanoma [RCV000071123] Chr16:3966645 [GRCh38]
Chr16:4016646 [GRCh37]
Chr16:3956647 [NCBI36]
Chr16:16p13.3
not provided
NM_001116.3(ADCY9):c.1869C>T (p.Thr623=) single nucleotide variant Malignant melanoma [RCV000071124] Chr16:4007383 [GRCh38]
Chr16:4057384 [GRCh37]
Chr16:3997385 [NCBI36]
Chr16:16p13.3
not provided
NM_001116.3(ADCY9):c.1354C>T (p.Pro452Ser) single nucleotide variant Malignant melanoma [RCV000071125] Chr16:4114089 [GRCh38]
Chr16:4164090 [GRCh37]
Chr16:4104091 [NCBI36]
Chr16:16p13.3
not provided
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3 copy number gain See cases [RCV000133780] Chr16:46766..11525516 [GRCh38]
Chr16:96766..11619372 [GRCh37]
Chr16:36766..11526873 [NCBI36]
Chr16:16p13.3-13.13
pathogenic
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3 copy number gain See cases [RCV000136687] Chr16:46766..4247185 [GRCh38]
Chr16:96766..4297186 [GRCh37]
Chr16:36766..4237187 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:3560564-4266796)x1 copy number loss See cases [RCV000137944] Chr16:3560564..4266796 [GRCh38]
Chr16:3610565..4316797 [GRCh37]
Chr16:3550566..4256798 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3(chr16:3820522-4668347)x1 copy number loss See cases [RCV000137768] Chr16:3820522..4668347 [GRCh38]
Chr16:3870523..4718348 [GRCh37]
Chr16:3810524..4658349 [NCBI36]
Chr16:16p13.3
pathogenic|likely pathogenic
GRCh38/hg38 16p13.3(chr16:3303551-3965374)x3 copy number gain See cases [RCV000138346] Chr16:3303551..3965374 [GRCh38]
Chr16:3353551..4015375 [GRCh37]
Chr16:3293552..3955376 [NCBI36]
Chr16:16p13.3
likely pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3 copy number gain See cases [RCV000139166] Chr16:43732..13326806 [GRCh38]
Chr16:93732..13420663 [GRCh37]
Chr16:33732..13328164 [NCBI36]
Chr16:16p13.3-13.12
pathogenic
GRCh38/hg38 16p13.3(chr16:3726702-4644961)x3 copy number gain See cases [RCV000142504] Chr16:3726702..4644961 [GRCh38]
Chr16:3776703..4694962 [GRCh37]
Chr16:3716704..4634963 [NCBI36]
Chr16:16p13.3
pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3 copy number gain See cases [RCV000143710] Chr16:666662..15743104 [GRCh38]
Chr16:716662..15836961 [GRCh37]
Chr16:656663..15744462 [NCBI36]
Chr16:16p13.3-13.11
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3 copy number gain See cases [RCV000203445] Chr16:102839..28327676 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3 copy number gain Breast ductal adenocarcinoma [RCV000207053] Chr16:1279324..31926800 [GRCh37]
Chr16:16p13.3-11.2
uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3 copy number gain Breast ductal adenocarcinoma [RCV000207326] Chr16:1274615..19073133 [GRCh37]
Chr16:16p13.3-12.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3586972-4099566)x3 copy number gain See cases [RCV000446299] Chr16:3586972..4099566 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448) copy number gain See cases [RCV000446555] Chr16:78801..9169448 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3 copy number gain See cases [RCV000445663] Chr16:97133..5122974 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4010729-4300636)x1 copy number loss See cases [RCV000510474] Chr16:4010729..4300636 [GRCh37]
Chr16:16p13.3
uncertain significance
maternal UPD(16p) complex Hemimegalencephaly [RCV000494707] Chr16:1280042..33710558 [GRCh37]
Chr16:16p13.3-11.2
pathogenic
GRCh37/hg19 16p13.3(chr16:2891391-4440397)x3 copy number gain See cases [RCV000511502] Chr16:2891391..4440397 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3 copy number gain See cases [RCV000511360] Chr16:85880..22442007 [GRCh37]
Chr16:16p13.3-12.2
pathogenic
GRCh37/hg19 16p13.3(chr16:3146027-6362229)x1 copy number loss See cases [RCV000511703] Chr16:3146027..6362229 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3 copy number gain See cases [RCV000512194] Chr16:85880..19806921 [GRCh37]
Chr16:16p13.3-12.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3 copy number gain See cases [RCV000510698] Chr16:85880..9883129 [GRCh37]
Chr16:16p13.3-13.2
pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3 copy number gain not provided [RCV000683745] Chr16:1505184..4415346 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3 copy number gain not provided [RCV000683743] Chr16:85880..11209288 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4460114)x3 copy number gain not provided [RCV000683747] Chr16:2651354..4460114 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_3929813)_(4387545_?)dup duplication Rubinstein-Taybi syndrome 1 [RCV000708038] Chr16:3879812..4337544 [GRCh38]
Chr16:3929813..4387545 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4163754-4166350)x1 copy number loss not provided [RCV000751546] Chr16:4163754..4166350 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2964C>A (p.Leu988=) single nucleotide variant not provided [RCV000977845] Chr16:3966873 [GRCh38]
Chr16:4016874 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.2828+4C>G single nucleotide variant not provided [RCV000963684] Chr16:3977478 [GRCh38]
Chr16:4027479 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1097C>G (p.Pro366Arg) single nucleotide variant not specified [RCV004322368] Chr16:4114346 [GRCh38]
Chr16:4164347 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3483C>T (p.Phe1161=) single nucleotide variant not provided [RCV000947672] Chr16:3966354 [GRCh38]
Chr16:4016355 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2775C>T (p.Thr925=) single nucleotide variant not provided [RCV000947673] Chr16:3977535 [GRCh38]
Chr16:4027536 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2715C>T (p.Ala905=) single nucleotide variant not provided [RCV000881588] Chr16:3977595 [GRCh38]
Chr16:4027596 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.813G>A (p.Ser271=) single nucleotide variant not provided [RCV000904374] Chr16:4114630 [GRCh38]
Chr16:4164631 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.1690A>C (p.Lys564Gln) single nucleotide variant not provided [RCV000971153] Chr16:4113753 [GRCh38]
Chr16:4163754 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1738C>T (p.Arg580Cys) single nucleotide variant not provided [RCV000906335] Chr16:4007514 [GRCh38]
Chr16:4057515 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.2520-5C>T single nucleotide variant not provided [RCV000900155] Chr16:3979280 [GRCh38]
Chr16:4029281 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:109978-4316797) copy number gain Chromosome 16p13.3 duplication syndrome [RCV000767731] Chr16:109978..4316797 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.10:g.(?_3727698)_(4802591_?)del deletion Rubinstein-Taybi syndrome [RCV000813975] Chr16:3727698..4802591 [GRCh38]
Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001116.4(ADCY9):c.1981A>G (p.Ser661Gly) single nucleotide variant not provided [RCV000970887] Chr16:3993414 [GRCh38]
Chr16:4043415 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2700G>A (p.Ser900=) single nucleotide variant not provided [RCV000914791] Chr16:3977610 [GRCh38]
Chr16:4027611 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.3330C>T (p.Ile1110=) single nucleotide variant not provided [RCV000967402] Chr16:3966507 [GRCh38]
Chr16:4016508 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.3522C>T (p.Ala1174=) single nucleotide variant not provided [RCV000927339] Chr16:3966315 [GRCh38]
Chr16:4016316 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.708C>T (p.Thr236=) single nucleotide variant not provided [RCV000897733] Chr16:4114735 [GRCh38]
Chr16:4164736 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:3728113-4114276)x3 copy number gain not provided [RCV000848614] Chr16:3728113..4114276 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.10:g.(?_3744874)_(4337544_?)del deletion Rubinstein-Taybi syndrome [RCV001031911] Chr16:3794875..4387545 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:2651354-4614965)x3 copy number gain not provided [RCV001006745] Chr16:2651354..4614965 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3731117-5325699)x3 copy number gain not provided [RCV000846351] Chr16:3731117..5325699 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001116.4(ADCY9):c.1665C>A (p.Gly555=) single nucleotide variant not provided [RCV000917626] Chr16:4113778 [GRCh38]
Chr16:4163779 [GRCh37]
Chr16:16p13.3
benign
GRCh37/hg19 16p13.3(chr16:3469027-4328143)x3 copy number gain not provided [RCV000849459] Chr16:3469027..4328143 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:4094972-4183909)x1 copy number loss not provided [RCV001006747] Chr16:4094972..4183909 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.688G>A (p.Val230Met) single nucleotide variant not specified [RCV004288618] Chr16:4114755 [GRCh38]
Chr16:4164756 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1900G>A (p.Gly634Arg) single nucleotide variant not specified [RCV004288096] Chr16:3993495 [GRCh38]
Chr16:4043496 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.183G>A (p.Gly61=) single nucleotide variant not provided [RCV000878981] Chr16:4115260 [GRCh38]
Chr16:4165261 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.147C>T (p.Ser49=) single nucleotide variant not provided [RCV000917627] Chr16:4115296 [GRCh38]
Chr16:4165297 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.489C>T (p.Thr163=) single nucleotide variant not provided [RCV000971154] Chr16:4114954 [GRCh38]
Chr16:4164955 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2632C>T (p.Leu878=) single nucleotide variant not provided [RCV000906623] Chr16:3979163 [GRCh38]
Chr16:4029164 [GRCh37]
Chr16:16p13.3
benign
NM_001116.4(ADCY9):c.2994C>T (p.Arg998=) single nucleotide variant not provided [RCV000948971] Chr16:3966843 [GRCh38]
Chr16:4016844 [GRCh37]
Chr16:16p13.3
benign|likely benign
NC_000016.10:g.(?_3727698)_(4802591_?)dup duplication Amelocerebrohypohidrotic syndrome [RCV001031942] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2519+10G>A single nucleotide variant not provided [RCV000890592] Chr16:3983222 [GRCh38]
Chr16:4033223 [GRCh37]
Chr16:16p13.3
likely benign
GRCh37/hg19 16p13.3(chr16:4005376-4094972)x1 copy number loss not provided [RCV001006746] Chr16:4005376..4094972 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3 copy number gain See cases [RCV001263169] Chr16:2959279..30190593 [GRCh37]
Chr16:16p13.3-11.2
pathogenic|likely pathogenic
NM_001116.4(ADCY9):c.3098G>C (p.Arg1033Thr) single nucleotide variant Neurodevelopmental disorder [RCV001262985] Chr16:3966739 [GRCh38]
Chr16:4016740 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3 copy number gain not provided [RCV001537890] Chr16:84485..5251013 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3 copy number gain not provided [RCV001259749] Chr16:85880..5249457 [GRCh37]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_3777699)_(4852592_?)dup duplication Kohlschutter's syndrome [RCV001305610] Chr16:3777699..4852592 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3929813)_(4387545_?)dup duplication Rubinstein-Taybi syndrome [RCV001308817]|Rubinstein-Taybi syndrome due to CREBBP mutations [RCV000708038] Chr16:3929813..4387545 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.10:g.3619617_4448281del deletion See cases [RCV003313806] Chr16:3619617..4448281 [GRCh38]
Chr16:16p13.3
pathogenic
NC_000016.9:g.(?_256302)_(5971108_?)dup duplication Familial Mediterranean fever [RCV001877532]|Fanconi anemia [RCV001877533]|not provided [RCV001877531] Chr16:256302..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup duplication Epilepsy [RCV003113403]|Idiopathic generalized epilepsy [RCV003109446]|Saldino-Mainzer syndrome [RCV003113404] Chr16:256302..4852572 [GRCh37]
Chr16:16p13.3
uncertain significance
NC_000016.9:g.(?_3293141)_(5971108_?)dup duplication Rubinstein-Taybi syndrome [RCV003113465] Chr16:3293141..5971108 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2905C>T (p.Arg969Cys) single nucleotide variant not specified [RCV004301643] Chr16:3966932 [GRCh38]
Chr16:4016933 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3 copy number gain See cases [RCV002292215] Chr16:111043..6627459 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3(chr16:3772570-4156857)x3 copy number gain not provided [RCV002474496] Chr16:3772570..4156857 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_001116.4(ADCY9):c.1763T>C (p.Leu588Pro) single nucleotide variant not specified [RCV004117162] Chr16:4007489 [GRCh38]
Chr16:4057490 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1930G>A (p.Gly644Ser) single nucleotide variant not specified [RCV004080934] Chr16:3993465 [GRCh38]
Chr16:4043466 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.23A>G (p.Gln8Arg) single nucleotide variant not specified [RCV004169227] Chr16:4115420 [GRCh38]
Chr16:4165421 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.524C>T (p.Thr175Ile) single nucleotide variant not specified [RCV004101035] Chr16:4114919 [GRCh38]
Chr16:4164920 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3709A>G (p.Met1237Val) single nucleotide variant not specified [RCV004083941] Chr16:3966128 [GRCh38]
Chr16:4016129 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2816T>C (p.Leu939Pro) single nucleotide variant not specified [RCV004192134] Chr16:3977494 [GRCh38]
Chr16:4027495 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.700C>T (p.Leu234Phe) single nucleotide variant not specified [RCV004134224] Chr16:4114743 [GRCh38]
Chr16:4164744 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.996G>T (p.Arg332Ser) single nucleotide variant not specified [RCV004106250] Chr16:4114447 [GRCh38]
Chr16:4164448 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1019G>T (p.Arg340Ile) single nucleotide variant not specified [RCV004126046] Chr16:4114424 [GRCh38]
Chr16:4164425 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3395A>G (p.Gln1132Arg) single nucleotide variant not specified [RCV004074002] Chr16:3966442 [GRCh38]
Chr16:4016443 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2845C>G (p.Pro949Ala) single nucleotide variant not specified [RCV004141757] Chr16:3974694 [GRCh38]
Chr16:4024695 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.643G>T (p.Asp215Tyr) single nucleotide variant not specified [RCV004218116] Chr16:4114800 [GRCh38]
Chr16:4164801 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.412A>C (p.Met138Leu) single nucleotide variant not specified [RCV004218581] Chr16:4115031 [GRCh38]
Chr16:4165032 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.935A>G (p.Lys312Arg) single nucleotide variant not specified [RCV004140809] Chr16:4114508 [GRCh38]
Chr16:4164509 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2288A>G (p.Tyr763Cys) single nucleotide variant not specified [RCV004153745] Chr16:3989016 [GRCh38]
Chr16:4039017 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2611A>C (p.Ile871Leu) single nucleotide variant not specified [RCV004115493] Chr16:3979184 [GRCh38]
Chr16:4029185 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2023G>A (p.Gly675Arg) single nucleotide variant not specified [RCV004209214] Chr16:3992330 [GRCh38]
Chr16:4042331 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2716G>A (p.Val906Ile) single nucleotide variant not specified [RCV004227348] Chr16:3977594 [GRCh38]
Chr16:4027595 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1736C>T (p.Ser579Phe) single nucleotide variant not specified [RCV004214586] Chr16:4007516 [GRCh38]
Chr16:4057517 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.860T>C (p.Leu287Pro) single nucleotide variant not specified [RCV004135516] Chr16:4114583 [GRCh38]
Chr16:4164584 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2143C>G (p.Leu715Val) single nucleotide variant not specified [RCV004145996] Chr16:3992210 [GRCh38]
Chr16:4042211 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3282G>C (p.Glu1094Asp) single nucleotide variant not specified [RCV004128910] Chr16:3966555 [GRCh38]
Chr16:4016556 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3788G>A (p.Arg1263His) single nucleotide variant not specified [RCV004208981] Chr16:3966049 [GRCh38]
Chr16:4016050 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.716A>C (p.His239Pro) single nucleotide variant not specified [RCV004106928] Chr16:4114727 [GRCh38]
Chr16:4164728 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2437A>G (p.Thr813Ala) single nucleotide variant not specified [RCV004227847] Chr16:3983314 [GRCh38]
Chr16:4033315 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1214A>G (p.Lys405Arg) single nucleotide variant not specified [RCV004152215] Chr16:4114229 [GRCh38]
Chr16:4164230 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1417A>G (p.Ile473Val) single nucleotide variant not specified [RCV004170602] Chr16:4114026 [GRCh38]
Chr16:4164027 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3929G>T (p.Arg1310Ile) single nucleotide variant not specified [RCV004162958] Chr16:3965908 [GRCh38]
Chr16:4015909 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.656C>T (p.Ser219Phe) single nucleotide variant not specified [RCV004147091] Chr16:4114787 [GRCh38]
Chr16:4164788 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1613A>G (p.Tyr538Cys) single nucleotide variant not specified [RCV004097171] Chr16:4113830 [GRCh38]
Chr16:4163831 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2629G>A (p.Ala877Thr) single nucleotide variant not specified [RCV004083469] Chr16:3979166 [GRCh38]
Chr16:4029167 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2741A>C (p.Gln914Pro) single nucleotide variant not specified [RCV004278049] Chr16:3977569 [GRCh38]
Chr16:4027570 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2821C>G (p.Pro941Ala) single nucleotide variant not specified [RCV004266772] Chr16:3977489 [GRCh38]
Chr16:4027490 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1852G>A (p.Ala618Thr) single nucleotide variant not specified [RCV004280121] Chr16:4007400 [GRCh38]
Chr16:4057401 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3962G>A (p.Arg1321Lys) single nucleotide variant not specified [RCV004329228] Chr16:3965875 [GRCh38]
Chr16:4015876 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3800A>G (p.Asp1267Gly) single nucleotide variant not specified [RCV004344549] Chr16:3966037 [GRCh38]
Chr16:4016038 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.431T>G (p.Val144Gly) single nucleotide variant not specified [RCV004340123] Chr16:4115012 [GRCh38]
Chr16:4165013 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2705C>T (p.Ala902Val) single nucleotide variant not specified [RCV004358702] Chr16:3977605 [GRCh38]
Chr16:4027606 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.3163G>T (p.Asp1055Tyr) single nucleotide variant not specified [RCV004359533] Chr16:3966674 [GRCh38]
Chr16:4016675 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3382G>A (p.Gly1128Ser) single nucleotide variant not specified [RCV004359534] Chr16:3966455 [GRCh38]
Chr16:4016456 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1787G>A (p.Gly596Asp) single nucleotide variant not specified [RCV004348168] Chr16:4007465 [GRCh38]
Chr16:4057466 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3792951-4274168)x3 copy number gain not provided [RCV003485086] Chr16:3792951..4274168 [GRCh37]
Chr16:16p13.3
likely pathogenic
NM_001116.4(ADCY9):c.2898G>C (p.Ser966=) single nucleotide variant not provided [RCV003426562] Chr16:3966939 [GRCh38]
Chr16:4016940 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.3493G>A (p.Val1165Ile) single nucleotide variant not provided [RCV003411254] Chr16:3966344 [GRCh38]
Chr16:4016345 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1578C>T (p.Ala526=) single nucleotide variant not provided [RCV003426563] Chr16:4113865 [GRCh38]
Chr16:4163866 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1609A>G (p.Lys537Glu) single nucleotide variant not specified [RCV004373731] Chr16:4113834 [GRCh38]
Chr16:4163835 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1624C>T (p.Arg542Trp) single nucleotide variant not specified [RCV004373739] Chr16:4113819 [GRCh38]
Chr16:4163820 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2242A>G (p.Asn748Asp) single nucleotide variant not specified [RCV004373767] Chr16:3989062 [GRCh38]
Chr16:4039063 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2059A>C (p.Asn687His) single nucleotide variant not specified [RCV004373759] Chr16:3992294 [GRCh38]
Chr16:4042295 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2884C>A (p.Pro962Thr) single nucleotide variant not specified [RCV004373817] Chr16:3966953 [GRCh38]
Chr16:4016954 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3437T>C (p.Met1146Thr) single nucleotide variant not specified [RCV004373863] Chr16:3966400 [GRCh38]
Chr16:4016401 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.344G>A (p.Arg115Gln) single nucleotide variant not specified [RCV004373869] Chr16:4115099 [GRCh38]
Chr16:4165100 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3604G>A (p.Val1202Met) single nucleotide variant not specified [RCV004373877] Chr16:3966233 [GRCh38]
Chr16:4016234 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.578A>G (p.Gln193Arg) single nucleotide variant not specified [RCV004375877] Chr16:4114865 [GRCh38]
Chr16:4164866 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1422G>T (p.Glu474Asp) single nucleotide variant not specified [RCV004373729] Chr16:4114021 [GRCh38]
Chr16:4164022 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2671A>G (p.Asn891Asp) single nucleotide variant not specified [RCV004373788] Chr16:3979124 [GRCh38]
Chr16:4029125 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2503C>T (p.Leu835Phe) single nucleotide variant not specified [RCV004373776] Chr16:3983248 [GRCh38]
Chr16:4033249 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3844G>A (p.Val1282Met) single nucleotide variant not specified [RCV004373885] Chr16:3965993 [GRCh38]
Chr16:4015994 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2857G>C (p.Val953Leu) single nucleotide variant not specified [RCV004373808] Chr16:3974682 [GRCh38]
Chr16:4024683 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:2990033-4837646)x1 copy number loss not provided [RCV003885471] Chr16:2990033..4837646 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001116.4(ADCY9):c.3936G>T (p.Trp1312Cys) single nucleotide variant not specified [RCV004373893] Chr16:3965901 [GRCh38]
Chr16:4015902 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2692A>G (p.Thr898Ala) single nucleotide variant not specified [RCV004613645] Chr16:3977618 [GRCh38]
Chr16:4027619 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2605G>A (p.Gly869Arg) single nucleotide variant not specified [RCV004613625] Chr16:3979190 [GRCh38]
Chr16:4029191 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.410A>G (p.His137Arg) single nucleotide variant not specified [RCV004613572] Chr16:4115033 [GRCh38]
Chr16:4165034 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1261G>C (p.Asp421His) single nucleotide variant not specified [RCV004613614] Chr16:4114182 [GRCh38]
Chr16:4164183 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.589C>G (p.Pro197Ala) single nucleotide variant not specified [RCV004613565] Chr16:4114854 [GRCh38]
Chr16:4164855 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3025C>G (p.His1009Asp) single nucleotide variant not specified [RCV004613593] Chr16:3966812 [GRCh38]
Chr16:4016813 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.818G>A (p.Gly273Glu) single nucleotide variant not specified [RCV004613583] Chr16:4114625 [GRCh38]
Chr16:4164626 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1814G>A (p.Gly605Glu) single nucleotide variant not specified [RCV004613604] Chr16:4007438 [GRCh38]
Chr16:4057439 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.506C>A (p.Ala169Asp) single nucleotide variant not specified [RCV004613636] Chr16:4114937 [GRCh38]
Chr16:4164938 [GRCh37]
Chr16:16p13.3
uncertain significance
GRCh37/hg19 16p13.3(chr16:3761912-4073514)x1 copy number loss not provided [RCV004819385] Chr16:3761912..4073514 [GRCh37]
Chr16:16p13.3
pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85881-12268399)x3 copy number gain not provided [RCV004819312] Chr16:85881..12268399 [GRCh37]
Chr16:16p13.3-13.13
pathogenic
GRCh37/hg19 16p13.3(chr16:513767-5555136)x3 copy number gain not provided [RCV004819313] Chr16:513767..5555136 [GRCh37]
Chr16:16p13.3
pathogenic
NM_001116.4(ADCY9):c.2450C>T (p.Pro817Leu) single nucleotide variant not specified [RCV004907914] Chr16:3983301 [GRCh38]
Chr16:4033302 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2791C>T (p.Pro931Ser) single nucleotide variant not specified [RCV004907908] Chr16:3977519 [GRCh38]
Chr16:4027520 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2923G>A (p.Ala975Thr) single nucleotide variant not specified [RCV004907904] Chr16:3966914 [GRCh38]
Chr16:4016915 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1684C>A (p.Gln562Lys) single nucleotide variant not specified [RCV004897555] Chr16:4113759 [GRCh38]
Chr16:4163760 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2776G>A (p.Val926Ile) single nucleotide variant not specified [RCV004897586] Chr16:3977534 [GRCh38]
Chr16:4027535 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.635G>A (p.Arg212Gln) single nucleotide variant not specified [RCV004897534] Chr16:4114808 [GRCh38]
Chr16:4164809 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1936G>A (p.Glu646Lys) single nucleotide variant not specified [RCV004897545] Chr16:3993459 [GRCh38]
Chr16:4043460 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.864C>G (p.His288Gln) single nucleotide variant not specified [RCV004897605] Chr16:4114579 [GRCh38]
Chr16:4164580 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1742G>C (p.Cys581Ser) single nucleotide variant not specified [RCV004907925] Chr16:4007510 [GRCh38]
Chr16:4057511 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2426A>G (p.Tyr809Cys) single nucleotide variant not specified [RCV004907913] Chr16:3983325 [GRCh38]
Chr16:4033326 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3417C>G (p.Phe1139Leu) single nucleotide variant not specified [RCV004907916] Chr16:3966420 [GRCh38]
Chr16:4016421 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2371G>A (p.Val791Met) single nucleotide variant not specified [RCV004907915] Chr16:3983380 [GRCh38]
Chr16:4033381 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3643G>C (p.Val1215Leu) single nucleotide variant not specified [RCV004907936] Chr16:3966194 [GRCh38]
Chr16:4016195 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2885C>A (p.Pro962Gln) single nucleotide variant not specified [RCV004897575] Chr16:3966952 [GRCh38]
Chr16:4016953 [GRCh37]
Chr16:16p13.3
uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:2531
Count of miRNA genes:1135
Interacting mature miRNAs:1388
Transcripts:ENST00000294016, ENST00000571467, ENST00000571889, ENST00000572288, ENST00000574721, ENST00000575550, ENST00000576936
Prediction methods:Miranda, Rnahybrid
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597600671GWAS1657531_Hbody mass index QTL GWAS1657531 (human)5e-23body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597382298GWAS1478372_Hmonocyte count QTL GWAS1478372 (human)1e-20monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640155824015583Human
597064596GWAS1160670_Hbody mass index QTL GWAS1160670 (human)9e-10body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
597348505GWAS1444579_Hlean body mass QTL GWAS1444579 (human)4e-27body lean mass (VT:0010483)total body lean mass (CMO:0003950)1639657283965729Human
406940487GWAS589463_Hheel bone mineral density QTL GWAS589463 (human)7e-20heel bone mineral densitybone mineral density (CMO:0001226)1639649633964964Human
597318034GWAS1414108_Hdiastolic blood pressure QTL GWAS1414108 (human)1e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)1640883774088378Human
597331859GWAS1427933_Hbody mass index QTL GWAS1427933 (human)2e-24body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597104029GWAS1200103_Hplatelet count QTL GWAS1200103 (human)1e-09platelet quantity (VT:0003179)platelet count (CMO:0000029)1639980193998020Human
597231762GWAS1327836_Hbody mass index QTL GWAS1327836 (human)4e-14body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597304721GWAS1400795_Hmonocyte count QTL GWAS1400795 (human)5e-16monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
597064603GWAS1160677_Hphysical activity measurement, body mass index QTL GWAS1160677 (human)5e-11wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597082777GWAS1178851_Hlymphocyte count QTL GWAS1178851 (human)1e-17lymphocyte countblood lymphocyte count (CMO:0000031)1640982394098240Human
597266312GWAS1362386_Hbody mass index QTL GWAS1362386 (human)0.0000009body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597374601GWAS1470675_Hmean corpuscular hemoglobin concentration QTL GWAS1470675 (human)1e-09mean corpuscular hemoglobin concentrationmean corpuscular hemoglobin concentration (CMO:0000291)1639597633959764Human
597618827GWAS1675687_Hbody weight QTL GWAS1675687 (human)3e-35body mass (VT:0001259)body weight (CMO:0000012)1639642813964282Human
597065345GWAS1161419_Hbody mass index QTL GWAS1161419 (human)8e-10body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
597322381GWAS1418455_Hhigh density lipoprotein cholesterol measurement QTL GWAS1418455 (human)3e-09high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)1639642813964282Human
596969097GWAS1088616_Hsystolic blood pressure QTL GWAS1088616 (human)2e-12systolic blood pressure1640911264091127Human
597270151GWAS1366225_Hdiastolic blood pressure QTL GWAS1366225 (human)4e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)1639650453965046Human
597580673GWAS1637533_Hmorbid obesity QTL GWAS1637533 (human)2e-17morbid obesity1639657283965729Human
407304537GWAS953513_Hlymphocyte count QTL GWAS953513 (human)6e-19lymphocyte countblood lymphocyte count (CMO:0000031)1640982394098240Human
597019828GWAS1115902_Hbody mass index QTL GWAS1115902 (human)9e-15body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
597291195GWAS1387269_Hbody mass index QTL GWAS1387269 (human)1e-20body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
407044705GWAS693681_Hbody mass index QTL GWAS693681 (human)3e-17body mass indexbody mass index (BMI) (CMO:0000105)1639931743993175Human
597371327GWAS1467401_Hmonocyte count QTL GWAS1467401 (human)1e-30monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640155824015583Human
597581499GWAS1638359_Hmonocyte count QTL GWAS1638359 (human)8e-13monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
597422526GWAS1518600_Hsystolic blood pressure QTL GWAS1518600 (human)1e-10systolic blood pressuresystolic blood pressure (CMO:0000004)1640911264091127Human
597422525GWAS1518599_Hsystolic blood pressure QTL GWAS1518599 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1639885273988528Human
597422524GWAS1518598_Hsystolic blood pressure QTL GWAS1518598 (human)4e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1639650453965046Human
597024434GWAS1120508_Hestrogen-receptor negative breast cancer QTL GWAS1120508 (human)2e-08estrogen-receptor negative breast cancer1640567874056788Human
597589433GWAS1646293_Hmonocyte count QTL GWAS1646293 (human)2e-14monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640741074074108Human
596966844GWAS1086363_Hdiastolic blood pressure QTL GWAS1086363 (human)1e-10diastolic blood pressure1640883774088378Human
597606324GWAS1663184_Hobesity QTL GWAS1663184 (human)5e-14obesity1639642813964282Human
597065405GWAS1161479_Hphysical activity measurement, body mass index QTL GWAS1161479 (human)2e-11wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597196979GWAS1293053_Hbody mass index QTL GWAS1293053 (human)2e-13body mass indexbody mass index (BMI) (CMO:0000105)1639722343972235Human
596955071GWAS1074590_HRed cell distribution width QTL GWAS1074590 (human)2e-08Red cell distribution width1639727023972703Human
597239733GWAS1335807_Happendicular lean mass QTL GWAS1335807 (human)2e-19appendicular lean mass1639653153965316Human
597242548GWAS1338622_Hbody fat percentage QTL GWAS1338622 (human)1e-19body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639657283965729Human
597202344GWAS1298418_Hdiastolic blood pressure QTL GWAS1298418 (human)3e-17diastolic blood pressurediastolic blood pressure (CMO:0000005)1639707313970732Human
597202345GWAS1298419_Hdiastolic blood pressure QTL GWAS1298419 (human)2e-10diastolic blood pressurediastolic blood pressure (CMO:0000005)1640911264091127Human
597064356GWAS1160430_Hphysical activity measurement, body mass index QTL GWAS1160430 (human)0.000006wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
407095153GWAS744129_Hbody fat percentage QTL GWAS744129 (human)0.000003body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639657283965729Human
597062306GWAS1158380_Hbody mass index QTL GWAS1158380 (human)0.0000006body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
596967074GWAS1086593_Hbody mass index QTL GWAS1086593 (human)4e-31body mass index1639657283965729Human
597026723GWAS1122797_Hbody mass index QTL GWAS1122797 (human)2e-16body mass indexbody mass index (BMI) (CMO:0000105)1639727023972703Human
597149856GWAS1245930_Hbody mass index QTL GWAS1245930 (human)3e-39body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
407223676GWAS872652_Hlymphocyte count QTL GWAS872652 (human)8e-09lymphocyte countblood lymphocyte count (CMO:0000031)1640700754070076Human
597087916GWAS1183990_Hmonocyte percentage of leukocytes QTL GWAS1183990 (human)1e-12monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)1640917274091728Human
406922106GWAS571082_Hlean body mass QTL GWAS571082 (human)1e-09body lean mass (VT:0010483)total body lean mass (CMO:0003950)1639634663963467Human
596953257GWAS1072776_Hsize QTL GWAS1072776 (human)7e-12size1639693493969350Human
597087915GWAS1183989_Hmonocyte percentage of leukocytes QTL GWAS1183989 (human)3e-16monocyte quantity (VT:0000223)blood monocyte count to total leukocyte count ratio (CMO:0000374)1640124354012436Human
597024471GWAS1120545_Hbreast carcinoma QTL GWAS1120545 (human)1e-08mammary gland integrity trait (VT:0010552)1640567874056788Human
597060563GWAS1156637_Hmetabolic syndrome QTL GWAS1156637 (human)9e-29metabolic syndrome1639657283965729Human
597033171GWAS1129245_Hbody fat percentage QTL GWAS1129245 (human)1e-10body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639657283965729Human
597129682GWAS1225756_Hsex interaction measurement, cerebral amyloid angiopathy QTL GWAS1225756 (human)0.000009sex interaction measurement, cerebral amyloid angiopathy1640220144022015Human
407022347GWAS671323_Hobesity QTL GWAS671323 (human)4e-08obesity1639634663963467Human
597293527GWAS1389601_Hbody mass index QTL GWAS1389601 (human)4e-35body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597614800GWAS1671660_HRed cell distribution width QTL GWAS1671660 (human)5e-12Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1640311374031138Human
597241046GWAS1337120_Haspartate aminotransferase measurement, serum alanine aminotransferase measurement, low density lipoprotein triglyceride measurement, body fat percentage, high density lipoprotein cholesterol measurement, sex hormone-binding globulin measurement QTL GWAS1337120 (human)7e-17body fat mass (VT:0010482)blood high density lipoprotein cholesterol level (CMO:0000052)1639657283965729Human
597157829GWAS1253903_Htestosterone measurement QTL GWAS1253903 (human)3e-09testosterone measurementserum testosterone level (CMO:0000568)1641064224106423Human
597594314GWAS1651174_Hbody mass index QTL GWAS1651174 (human)1e-47body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
596976320GWAS1095839_Hhypertension QTL GWAS1095839 (human)1e-11hypertension1640911264091127Human
597144512GWAS1240586_HAntihypertensive use measurement QTL GWAS1240586 (human)2e-09Agents acting on the renin-angiotensin system use measurement1639707313970732Human
597601222GWAS1658082_Hbody mass index QTL GWAS1658082 (human)6e-25body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597106636GWAS1202710_Htestosterone measurement QTL GWAS1202710 (human)3e-10testosterone measurementserum testosterone level (CMO:0000568)1640855614085562Human
597106635GWAS1202709_Htestosterone measurement QTL GWAS1202709 (human)1e-09testosterone measurementserum testosterone level (CMO:0000568)1639650453965046Human
597612992GWAS1669852_Herythrocyte count QTL GWAS1669852 (human)6e-15erythrocyte countred blood cell count (CMO:0000025)1640298224029823Human
597601729GWAS1658589_Hmonocyte count QTL GWAS1658589 (human)1e-11monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640741074074108Human
597219833GWAS1315907_Hglucose measurement QTL GWAS1315907 (human)4e-09glucose measurementblood glucose level (CMO:0000046)1639642813964282Human
597607929GWAS1664789_Hbody weight QTL GWAS1664789 (human)3e-44body mass (VT:0001259)body weight (CMO:0000012)1639634663963467Human
597166835GWAS1262909_Hbody weight QTL GWAS1262909 (human)1e-14body mass (VT:0001259)body weight (CMO:0000012)1639657283965729Human
597097978GWAS1194052_Hcomparative body size at age 10, self-reported QTL GWAS1194052 (human)3e-30comparative body size at age 10, self-reported1639642813964282Human
597612274GWAS1669134_Hbody weight QTL GWAS1669134 (human)2e-91body mass (VT:0001259)body weight (CMO:0000012)1639657283965729Human
597053434GWAS1149508_Hcardiovascular disease QTL GWAS1149508 (human)3e-10cardiovascular disease1640872614087262Human
597347829GWAS1443903_Hsystolic blood pressure QTL GWAS1443903 (human)2e-11systolic blood pressuresystolic blood pressure (CMO:0000004)1640911264091127Human
597190391GWAS1286465_Htestosterone measurement QTL GWAS1286465 (human)6e-09testosterone measurementserum testosterone level (CMO:0000568)1641068084106809Human
597589487GWAS1646347_Hmonocyte count QTL GWAS1646347 (human)2e-12monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
597609708GWAS1666568_Hbody weight QTL GWAS1666568 (human)4e-96body mass (VT:0001259)body weight (CMO:0000012)1639657283965729Human
407382844GWAS1031820_Hobsolete_red blood cell distribution width QTL GWAS1031820 (human)2e-08obsolete_red blood cell distribution width1639727023972703Human
597283820GWAS1379894_HC-reactive protein measurement QTL GWAS1379894 (human)2e-09C-reactive protein measurementblood uric acid level (CMO:0000501)1639657283965729Human
597582308GWAS1639168_Hamyloid-beta measurement QTL GWAS1639168 (human)0.000006amyloid-beta measurement1639591213959122Human
597620448GWAS1677308_Hbody weight QTL GWAS1677308 (human)4e-22body mass (VT:0001259)body weight (CMO:0000012)1639634663963467Human
597492194GWAS1588268_Hbody mass index QTL GWAS1588268 (human)3e-08body mass indexbody mass index (BMI) (CMO:0000105)1639555203955521Human
597054486GWAS1150560_Hsystolic blood pressure QTL GWAS1150560 (human)8e-10systolic blood pressuresystolic blood pressure (CMO:0000004)1640911264091127Human
597317145GWAS1413219_Hbody surface area QTL GWAS1413219 (human)9e-32body surface area1639657283965729Human
597043219GWAS1139293_Hheel bone mineral density QTL GWAS1139293 (human)1e-08heel bone mineral densitybone mineral density (CMO:0001226)1639717333971734Human
597601304GWAS1658164_Hbody mass index QTL GWAS1658164 (human)2e-24body mass indexbody mass index (BMI) (CMO:0000105)1639642813964282Human
597096209GWAS1192283_Htestosterone measurement QTL GWAS1192283 (human)4e-24testosterone measurementserum testosterone level (CMO:0000568)1641064224106423Human
597023003GWAS1119077_Hbreast carcinoma QTL GWAS1119077 (human)0.000001mammary gland integrity trait (VT:0010552)1640581574058158Human
597190166GWAS1286240_Htestosterone measurement QTL GWAS1286240 (human)2e-12testosterone measurementserum testosterone level (CMO:0000568)1641068084106809Human
407027666GWAS676642_Hpartial epilepsy QTL GWAS676642 (human)0.000001partial epilepsy1640538704053871Human
407226836GWAS875812_Hasthma, response to diisocyanate QTL GWAS875812 (human)0.000002asthma, response to diisocyanate1640217214021722Human
597134340GWAS1230414_Hbody weight QTL GWAS1230414 (human)1e-14body mass (VT:0001259)body weight (CMO:0000012)1639673913967392Human
597589261GWAS1646121_Hmonocyte count QTL GWAS1646121 (human)2e-11monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
597033733GWAS1129807_Hsystolic blood pressure QTL GWAS1129807 (human)3e-08systolic blood pressuresystolic blood pressure (CMO:0000004)1640788524078853Human
597602826GWAS1659686_Hmonocyte count QTL GWAS1659686 (human)1e-21monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640741074074108Human
597062403GWAS1158477_Hphysical activity measurement, body mass index QTL GWAS1158477 (human)0.000001wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597176590GWAS1272664_Hbody mass index QTL GWAS1272664 (human)9e-57body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597176591GWAS1272665_Hbody mass index QTL GWAS1272665 (human)2e-11body mass indexbody mass index (BMI) (CMO:0000105)1639873933987394Human
597375489GWAS1471563_Hbody mass index QTL GWAS1471563 (human)1e-10body mass indexbody mass index (BMI) (CMO:0000105)1639561623956163Human
597070604GWAS1166678_Hbody weight QTL GWAS1166678 (human)1e-08body mass (VT:0001259)body weight (CMO:0000012)1639634663963467Human
597329920GWAS1425994_Hsexual dimorphism measurement QTL GWAS1425994 (human)4e-14sexual dimorphism measurement1639642813964282Human
596976655GWAS1096174_Hbody height QTL GWAS1096174 (human)9e-31body height1639693493969350Human
597329921GWAS1425995_Hsexual dimorphism measurement QTL GWAS1425995 (human)1e-08sexual dimorphism measurement1639776043977605Human
597100041GWAS1196115_Hgut microbiome measurement QTL GWAS1196115 (human)0.000006gut microbiome measurement1639998393999840Human
596967477GWAS1086996_Hdiastolic blood pressure QTL GWAS1086996 (human)5e-16diastolic blood pressure1639707313970732Human
597074997GWAS1171071_Hbody mass index QTL GWAS1171071 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)1639726933972694Human
597378366GWAS1474440_Hresponse to dalcetrapib, cardiovascular event measurement QTL GWAS1474440 (human)2e-08response to dalcetrapib, cardiovascular event measurementcardiovascular measurement (CMO:0000001)1640155824015583Human
597375549GWAS1471623_Hmonocyte count QTL GWAS1471623 (human)4e-29monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640155824015583Human
597050673GWAS1146747_HRed cell distribution width QTL GWAS1146747 (human)2e-08Red cell distribution widthred blood cell distribution width- standard deviation (CMO:0003232)1639727023972703Human
406916841GWAS565817_Hlean body mass QTL GWAS565817 (human)0.0000003body lean mass (VT:0010483)total body lean mass (CMO:0003950)1639634663963467Human
597062207GWAS1158281_Hphysical activity measurement, body mass index QTL GWAS1158281 (human)0.0000005wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597285174GWAS1381248_Hbody weight QTL GWAS1381248 (human)8e-45body mass (VT:0001259)body weight (CMO:0000012)1639657283965729Human
597424425GWAS1520499_Hblood phosphate measurement QTL GWAS1520499 (human)9e-13blood phosphate amount (VT:0001565)blood phosphate level (CMO:0000504)1639825803982581Human
407114999GWAS763975_Hbody fat percentage QTL GWAS763975 (human)0.000009body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639657283965729Human
597311273GWAS1407347_Hbody mass index QTL GWAS1407347 (human)8e-09body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597065506GWAS1161580_Hphysical activity measurement, body mass index QTL GWAS1161580 (human)1e-11wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597346093GWAS1442167_Hbody mass index QTL GWAS1442167 (human)8e-24body mass indexbody mass index (BMI) (CMO:0000105)1639642813964282Human
407047418GWAS696394_Hbody mass index QTL GWAS696394 (human)9e-08body mass indexbody mass index (BMI) (CMO:0000105)1639883863988387Human
597131308GWAS1227382_Hpulse pressure measurement QTL GWAS1227382 (human)0.000006pulse pressure measurementpulse pressure (CMO:0000292)1640911264091127Human
597292836GWAS1388910_Hhypertension QTL GWAS1388910 (human)1e-10hypertension1639650453965046Human
597618209GWAS1675069_Hbile duct disorder QTL GWAS1675069 (human)5e-12bile duct disorder1639785613978562Human
597594204GWAS1651064_Hbody mass index QTL GWAS1651064 (human)1e-71body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597313630GWAS1409704_Hdiastolic blood pressure QTL GWAS1409704 (human)5e-16diastolic blood pressurediastolic blood pressure (CMO:0000005)1639707313970732Human
597603672GWAS1660532_Hmonocyte count QTL GWAS1660532 (human)1e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
596953427GWAS1072946_Hbody mass index QTL GWAS1072946 (human)1e-20body mass index1639657283965729Human
407174284GWAS823260_Hbody mass index QTL GWAS823260 (human)1e-09body mass indexbody mass index (BMI) (CMO:0000105)1639707313970732Human
407039627GWAS688603_Hbody mass index QTL GWAS688603 (human)7e-08body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
597605719GWAS1662579_Hovernutrition, obesity QTL GWAS1662579 (human)8e-12overnutrition, obesity1639642813964282Human
597075551GWAS1171625_Hbody mass index QTL GWAS1171625 (human)9e-19body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597579092GWAS1635952_Hovernutrition, obesity QTL GWAS1635952 (human)9e-18overnutrition, obesity1639642813964282Human
597318992GWAS1415066_Hbody mass index QTL GWAS1415066 (human)5e-11body mass indexbody mass index (BMI) (CMO:0000105)1639642813964282Human
597347664GWAS1443738_Hbody fat percentage QTL GWAS1443738 (human)8e-09body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639653123965313Human
597033309GWAS1129383_Hlean body mass QTL GWAS1129383 (human)9e-14body lean mass (VT:0010483)total body lean mass (CMO:0003950)1639634663963467Human
597327958GWAS1424032_Hbody mass index QTL GWAS1424032 (human)2e-31body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597610067GWAS1666927_Hmonocyte count QTL GWAS1666927 (human)2e-15monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640741074074108Human
597200983GWAS1297057_Hsystolic blood pressure QTL GWAS1297057 (human)1e-14systolic blood pressuresystolic blood pressure (CMO:0000004)1639707313970732Human
596961860GWAS1081379_Hmetabolic syndrome QTL GWAS1081379 (human)9e-29metabolic syndrome1639657283965729Human
597078342GWAS1174416_Hlymphocyte percentage of leukocytes QTL GWAS1174416 (human)5e-11lymphocyte quantity (VT:0000717)blood lymphocyte count to total leukocyte count ratio (CMO:0000371)1641117924111793Human
597064772GWAS1160846_Hbody mass index QTL GWAS1160846 (human)0.000003body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
597290826GWAS1386900_Hsize QTL GWAS1386900 (human)7e-12size1639693493969350Human
597617483GWAS1674343_Hbody weight QTL GWAS1674343 (human)2e-35body mass (VT:0001259)body weight (CMO:0000012)1639642813964282Human
596967233GWAS1086752_Hbody mass index QTL GWAS1086752 (human)4e-35body mass index1639657283965729Human
597288780GWAS1384854_Hhypertension QTL GWAS1384854 (human)1e-11hypertension1640911264091127Human
597322319GWAS1418393_Hsystolic blood pressure QTL GWAS1418393 (human)2e-12systolic blood pressuresystolic blood pressure (CMO:0000004)1640911264091127Human
597026627GWAS1122701_Hbody mass index QTL GWAS1122701 (human)2e-31body mass indexbody mass index (BMI) (CMO:0000105)1639642813964282Human
597033024GWAS1129098_Hheel bone mineral density QTL GWAS1129098 (human)5e-27heel bone mineral densitybone mineral density (CMO:0001226)1639717333971734Human
597167684GWAS1263758_Hbody mass index QTL GWAS1263758 (human)6e-12urate measurementblood uric acid level (CMO:0000501)1639657283965729Human
597098314GWAS1194388_Htestosterone measurement QTL GWAS1194388 (human)3e-12testosterone measurementserum testosterone level (CMO:0000568)1641076954107696Human
597318779GWAS1414853_Hbody fat percentage QTL GWAS1414853 (human)2e-08body fat mass (VT:0010482)body fat percentage (CMO:0000302)1639642813964282Human
597226618GWAS1322692_Hheel bone mineral density QTL GWAS1322692 (human)3e-19heel bone mineral densitybone mineral density (CMO:0001226)1639649633964964Human
597064309GWAS1160383_Hphysical activity measurement, body mass index QTL GWAS1160383 (human)3e-11wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597271162GWAS1367236_Hbody mass index QTL GWAS1367236 (human)4e-09body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597333374GWAS1429448_HR-6-hydroxywarfarin to R-warfarin ratio measurement QTL GWAS1429448 (human)0.000002R-6-hydroxywarfarin to R-warfarin ratio measurement1640567854056786Human
597064563GWAS1160637_Hphysical activity measurement, body mass index QTL GWAS1160637 (human)0.000005wellness/fitness trait (VT:1000152)body mass index (BMI) (CMO:0000105)1639634663963467Human
597113201GWAS1209275_Hbody mass index QTL GWAS1209275 (human)5e-09body mass indexbody mass index (BMI) (CMO:0000105)1639634663963467Human
596957566GWAS1077085_Hbody mass index QTL GWAS1077085 (human)0.000001body mass index1639634663963467Human
597621108GWAS1677968_Hbody weight QTL GWAS1677968 (human)4e-33body mass (VT:0001259)body weight (CMO:0000012)1639642813964282Human
597594229GWAS1651089_Hbody mass index QTL GWAS1651089 (human)8e-67body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597287542GWAS1383616_Hbody mass index QTL GWAS1383616 (human)6e-35body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597344629GWAS1440703_Hurate measurement QTL GWAS1440703 (human)2e-08urate measurementblood uric acid level (CMO:0000501)1639657283965729Human
597578351GWAS1635211_Hobesity QTL GWAS1635211 (human)7e-24obesity1639642813964282Human
597608557GWAS1665417_Hbody weight QTL GWAS1665417 (human)3e-69body mass (VT:0001259)body weight (CMO:0000012)1639634663963467Human
407216817GWAS865793_Hlymphocyte count QTL GWAS865793 (human)2e-17lymphocyte countblood lymphocyte count (CMO:0000031)1640982394098240Human
596952161GWAS1071680_Hhypertension QTL GWAS1071680 (human)1e-10hypertension1639650453965046Human
597315180GWAS1411254_Huric acid measurement QTL GWAS1411254 (human)3e-09uric acid measurementblood uric acid level (CMO:0000501)1639726933972694Human
597149039GWAS1245113_Hbody mass index QTL GWAS1245113 (human)1e-08body mass indexbody mass index (BMI) (CMO:0000105)1641064224106423Human
597149038GWAS1245112_Hbody mass index QTL GWAS1245112 (human)9e-14body mass indexbody mass index (BMI) (CMO:0000105)1639924483992449Human
597581159GWAS1638019_Hmonocyte count QTL GWAS1638019 (human)6e-23monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640168904016891Human
597149037GWAS1245111_Hbody mass index QTL GWAS1245111 (human)2e-08body mass indexbody mass index (BMI) (CMO:0000105)1639873933987394Human
597316198GWAS1412272_Hbody mass index QTL GWAS1412272 (human)4e-31body mass indexbody mass index (BMI) (CMO:0000105)1639657283965729Human
597461088GWAS1557162_Hdiastolic blood pressure QTL GWAS1557162 (human)7e-14diastolic blood pressurediastolic blood pressure (CMO:0000005)1639707313970732Human
597038442GWAS1134516_Hgut microbiome measurement QTL GWAS1134516 (human)0.000003gut microbiome measurement1640261354026136Human
597461089GWAS1557163_Hdiastolic blood pressure QTL GWAS1557163 (human)3e-09diastolic blood pressurediastolic blood pressure (CMO:0000005)1640465104046511Human
597089387GWAS1185461_Hmonocyte count QTL GWAS1185461 (human)1e-10monocyte quantity (VT:0000223)blood monocyte count (CMO:0000032)1640770804077082Human
597028458GWAS1124532_Hbody mass index QTL GWAS1124532 (human)3e-17body mass indexbody mass index (BMI) (CMO:0000105)1639850673985068Human

Markers in Region
D16S3027  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371480,185,400 - 80,185,892UniSTSGRCh37
GRCh37164,050,872 - 4,051,137UniSTSGRCh37
Build 36163,990,873 - 3,991,138RGDNCBI36
Celera1460,223,601 - 60,224,093UniSTS
Celera164,257,540 - 4,257,811RGD
Cytogenetic Map14q31UniSTS
Cytogenetic Map16pter-p13UniSTS
Cytogenetic Map16p13.3UniSTS
HuRef164,019,215 - 4,019,484UniSTS
Marshfield Genetic Map168.71UniSTS
Marshfield Genetic Map168.71RGD
Genethon Genetic Map166.7UniSTS
deCODE Assembly Map1610.46UniSTS
RH64918  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,143,891 - 4,144,067UniSTSGRCh37
Build 36164,083,892 - 4,084,068RGDNCBI36
Celera164,350,595 - 4,350,771RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,112,008 - 4,112,184UniSTS
RH47122  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,130,751 - 4,130,863UniSTSGRCh37
Build 36164,070,752 - 4,070,864RGDNCBI36
Celera164,337,455 - 4,337,567RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,098,868 - 4,098,980UniSTS
RH102020  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,015,100 - 4,015,248UniSTSGRCh37
Build 36163,955,101 - 3,955,249RGDNCBI36
Celera164,221,748 - 4,221,896RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,983,456 - 3,983,604UniSTS
GeneMap99-GB4 RH Map1668.88UniSTS
G60525  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,050,870 - 4,051,134UniSTSGRCh37
Build 36163,990,871 - 3,991,135RGDNCBI36
Celera164,257,538 - 4,257,808RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,019,213 - 4,019,481UniSTS
TNG Radiation Hybrid Map162465.0UniSTS
TNG Radiation Hybrid Map334684.0UniSTS
RH15630  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,012,730 - 4,012,903UniSTSGRCh37
Build 36163,952,731 - 3,952,904RGDNCBI36
Celera164,219,400 - 4,219,573RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,981,108 - 3,981,281UniSTS
GeneMap99-GB4 RH Map1662.5UniSTS
ADCY9_213  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,014,778 - 4,015,627UniSTSGRCh37
Build 36163,954,779 - 3,955,628RGDNCBI36
Celera164,221,426 - 4,222,275RGD
HuRef163,983,134 - 3,983,983UniSTS
D16S3328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,161,975 - 4,162,114UniSTSGRCh37
Build 36164,101,976 - 4,102,115RGDNCBI36
Celera164,368,667 - 4,368,806RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,130,095 - 4,130,234UniSTS
TNG Radiation Hybrid Map162519.0UniSTS
GeneMap99-G3 RH Map162994.0UniSTS
G35896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,068,105 - 4,068,203UniSTSGRCh37
Build 36164,008,106 - 4,008,204RGDNCBI36
Celera164,274,779 - 4,274,877RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,036,189 - 4,036,287UniSTS
RH68479  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,118,132 - 4,118,264UniSTSGRCh37
Build 36164,058,133 - 4,058,265RGDNCBI36
Celera164,324,820 - 4,324,952RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,086,256 - 4,086,388UniSTS
GeneMap99-GB4 RH Map1662.5UniSTS
1952  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,013,242 - 4,013,329UniSTSGRCh37
Build 36163,953,243 - 3,953,330RGDNCBI36
Celera164,219,890 - 4,219,977RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,981,598 - 3,981,685UniSTS
GeneMap99-GB4 RH Map1667.32UniSTS
STS-Z40718  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,012,758 - 4,012,823UniSTSGRCh37
Build 36163,952,759 - 3,952,824RGDNCBI36
Celera164,219,428 - 4,219,493RGD
Cytogenetic Map16p13.3UniSTS
HuRef163,981,136 - 3,981,201UniSTS
GeneMap99-GB4 RH Map1666.28UniSTS
G35540  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,086,309 - 4,086,427UniSTSGRCh37
Build 36164,026,310 - 4,026,428RGDNCBI36
Celera164,293,006 - 4,293,124RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,054,435 - 4,054,553UniSTS
D16S758  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,119,215 - 4,119,461UniSTSGRCh37
Build 36164,059,216 - 4,059,462RGDNCBI36
Celera164,325,903 - 4,326,155RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,087,339 - 4,087,582UniSTS
D16S2995  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37164,170,184 - 4,170,311UniSTSGRCh37
Build 36164,110,185 - 4,110,312RGDNCBI36
Celera164,376,881 - 4,377,008RGD
Cytogenetic Map16p13.3UniSTS
HuRef164,137,805 - 4,137,932UniSTS
D22S1584  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map10q24.2UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2437 2788 2246 4969 1726 2349 5 624 1907 465 2268 7263 6431 52 3732 1 852 1742 1614 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011434 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001116 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255079 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379509 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB011092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF036927 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH010599 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ133123 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK022108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU141090 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW518323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC068612 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC136658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151207 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC151229 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI770493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ614080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471112 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ005545 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ008441 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF454950 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456147 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456154 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000294016   ⟹   ENSP00000294016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,962,653 - 4,116,442 (-)Ensembl
Ensembl Acc Id: ENST00000571467   ⟹   ENSP00000460160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,989,084 - 4,113,925 (-)Ensembl
Ensembl Acc Id: ENST00000571889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,989,089 - 4,054,190 (-)Ensembl
Ensembl Acc Id: ENST00000572288   ⟹   ENSP00000461825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,992,222 - 4,114,026 (-)Ensembl
Ensembl Acc Id: ENST00000574721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,981,773 - 3,984,150 (-)Ensembl
Ensembl Acc Id: ENST00000575550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,983,392 - 4,015,682 (-)Ensembl
Ensembl Acc Id: ENST00000576936   ⟹   ENSP00000460066
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,953,387 - 3,989,000 (-)Ensembl
RefSeq Acc Id: NM_001116   ⟹   NP_001107
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,962,653 - 4,116,442 (-)NCBI
GRCh37164,012,650 - 4,166,186 (-)ENTREZGENE
Build 36163,952,653 - 4,106,187 (-)NCBI Archive
HuRef163,981,028 - 4,147,934 (-)ENTREZGENE
CHM1_1164,012,672 - 4,166,128 (-)NCBI
T2T-CHM13v2.0163,989,986 - 4,143,751 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005255079   ⟹   XP_005255136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,962,653 - 4,116,442 (-)NCBI
GRCh37164,012,650 - 4,166,186 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011522353   ⟹   XP_011520655
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38163,953,387 - 4,116,442 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054379509   ⟹   XP_054235484
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0163,989,986 - 4,143,751 (-)NCBI
RefSeq Acc Id: XM_054379510   ⟹   XP_054235485
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0163,980,710 - 4,143,751 (-)NCBI
RefSeq Acc Id: NP_001107   ⟸   NM_001116
- UniProtKB: Q9BWT4 (UniProtKB/Swiss-Prot),   Q4ZIR5 (UniProtKB/Swiss-Prot),   Q4ZHT9 (UniProtKB/Swiss-Prot),   O60273 (UniProtKB/Swiss-Prot),   D3DUD1 (UniProtKB/Swiss-Prot),   A7E2X2 (UniProtKB/Swiss-Prot),   A7E2V5 (UniProtKB/Swiss-Prot),   Q9UGP2 (UniProtKB/Swiss-Prot),   O60503 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005255136   ⟸   XM_005255079
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011520655   ⟸   XM_011522353
- Peptide Label: isoform X2
- Sequence:
Ensembl Acc Id: ENSP00000294016   ⟸   ENST00000294016
Ensembl Acc Id: ENSP00000460160   ⟸   ENST00000571467
Ensembl Acc Id: ENSP00000461825   ⟸   ENST00000572288
Ensembl Acc Id: ENSP00000460066   ⟸   ENST00000576936
RefSeq Acc Id: XP_054235485   ⟸   XM_054379510
- Peptide Label: isoform X2
RefSeq Acc Id: XP_054235484   ⟸   XM_054379509
- Peptide Label: isoform X1
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O60503-F1-model_v2 AlphaFold O60503 1-1353 view protein structure

Promoters
RGD ID:6792770
Promoter ID:HG_KWN:22913
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001116
Position:
Human AssemblyChrPosition (strand)Source
Build 36164,105,856 - 4,106,782 (-)MPROMDB
RGD ID:7231175
Promoter ID:EPDNEW_H21334
Type:initiation region
Name:ADCY9_3
Description:adenylate cyclase 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21335  EPDNEW_H21336  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,116,090 - 4,116,150EPDNEW
RGD ID:7231179
Promoter ID:EPDNEW_H21335
Type:initiation region
Name:ADCY9_1
Description:adenylate cyclase 9
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21334  EPDNEW_H21336  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38164,116,442 - 4,116,502EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:240 AgrOrtholog
COSMIC ADCY9 COSMIC
Ensembl Genes ENSG00000162104 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000294016 ENTREZGENE
  ENST00000294016.8 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot
GTEx ENSG00000162104 GTEx
HGNC ID HGNC:240 ENTREZGENE
Human Proteome Map ADCY9 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot
  A/G_cyclase_CS UniProtKB/Swiss-Prot
  Nucleotide_cyclase UniProtKB/Swiss-Prot
KEGG Report hsa:115 UniProtKB/Swiss-Prot
NCBI Gene 115 ENTREZGENE
OMIM 603302 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot
  ADENYLATE CYCLASE TYPE 9 UniProtKB/Swiss-Prot
Pfam Guanylate_cyc UniProtKB/Swiss-Prot
PharmGKB ADCY9 RGD, PharmGKB
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 A7E2V5 ENTREZGENE
  A7E2X2 ENTREZGENE
  ADCY9_HUMAN UniProtKB/Swiss-Prot
  D3DUD1 ENTREZGENE
  I3L300_HUMAN UniProtKB/TrEMBL
  I3L342_HUMAN UniProtKB/TrEMBL
  I3NI20_HUMAN UniProtKB/TrEMBL
  L0R6C2_HUMAN UniProtKB/TrEMBL
  O60273 ENTREZGENE
  O60503 ENTREZGENE
  Q4ZHT9 ENTREZGENE
  Q4ZIR5 ENTREZGENE
  Q9BWT4 ENTREZGENE
  Q9UGP2 ENTREZGENE
UniProt Secondary A7E2V5 UniProtKB/Swiss-Prot
  A7E2X2 UniProtKB/Swiss-Prot
  D3DUD1 UniProtKB/Swiss-Prot
  O60273 UniProtKB/Swiss-Prot
  Q4ZHT9 UniProtKB/Swiss-Prot
  Q4ZIR5 UniProtKB/Swiss-Prot
  Q9BWT4 UniProtKB/Swiss-Prot
  Q9UGP2 UniProtKB/Swiss-Prot