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 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 Genes
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)
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)
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  (ISO)
tacrolimus hydrate  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone enanthate  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
trimellitic anhydride  (ISO)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
axon  (IEA,ISO)
cytosol  (IDA)
dendrite  (IEA,ISO)
membrane  (IDA,IEA)
plasma membrane  (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:37579959   PMID:37774976   PMID:37931956   PMID:38117590  


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
95 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 Ductal breast carcinoma [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 Ductal breast carcinoma [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 Inborn genetic diseases [RCV003268808] 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 Inborn genetic diseases [RCV003251419] Chr16:4114755 [GRCh38]
Chr16:4164756 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1900G>A (p.Gly634Arg) single nucleotide variant Inborn genetic diseases [RCV003251191] 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 Inborn genetic diseases [RCV003242371] 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 Inborn genetic diseases [RCV002772828] Chr16:4007489 [GRCh38]
Chr16:4057490 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1930G>A (p.Gly644Ser) single nucleotide variant Inborn genetic diseases [RCV002687052] Chr16:3993465 [GRCh38]
Chr16:4043466 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.23A>G (p.Gln8Arg) single nucleotide variant Inborn genetic diseases [RCV002902846] Chr16:4115420 [GRCh38]
Chr16:4165421 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.524C>T (p.Thr175Ile) single nucleotide variant Inborn genetic diseases [RCV002752008] Chr16:4114919 [GRCh38]
Chr16:4164920 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3709A>G (p.Met1237Val) single nucleotide variant Inborn genetic diseases [RCV002683248] Chr16:3966128 [GRCh38]
Chr16:4016129 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2816T>C (p.Leu939Pro) single nucleotide variant Inborn genetic diseases [RCV002968938] Chr16:3977494 [GRCh38]
Chr16:4027495 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.700C>T (p.Leu234Phe) single nucleotide variant Inborn genetic diseases [RCV002840217] Chr16:4114743 [GRCh38]
Chr16:4164744 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.996G>T (p.Arg332Ser) single nucleotide variant Inborn genetic diseases [RCV002733053] Chr16:4114447 [GRCh38]
Chr16:4164448 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1019G>T (p.Arg340Ile) single nucleotide variant Inborn genetic diseases [RCV002817207] Chr16:4114424 [GRCh38]
Chr16:4164425 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3395A>G (p.Gln1132Arg) single nucleotide variant Inborn genetic diseases [RCV002659788] Chr16:3966442 [GRCh38]
Chr16:4016443 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2845C>G (p.Pro949Ala) single nucleotide variant Inborn genetic diseases [RCV002849153] Chr16:3974694 [GRCh38]
Chr16:4024695 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.643G>T (p.Asp215Tyr) single nucleotide variant Inborn genetic diseases [RCV002693578] Chr16:4114800 [GRCh38]
Chr16:4164801 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.412A>C (p.Met138Leu) single nucleotide variant Inborn genetic diseases [RCV002693093] Chr16:4115031 [GRCh38]
Chr16:4165032 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.935A>G (p.Lys312Arg) single nucleotide variant Inborn genetic diseases [RCV002868485] Chr16:4114508 [GRCh38]
Chr16:4164509 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2288A>G (p.Tyr763Cys) single nucleotide variant Inborn genetic diseases [RCV002868866] Chr16:3989016 [GRCh38]
Chr16:4039017 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2611A>C (p.Ile871Leu) single nucleotide variant Inborn genetic diseases [RCV002797683] Chr16:3979184 [GRCh38]
Chr16:4029185 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2023G>A (p.Gly675Arg) single nucleotide variant Inborn genetic diseases [RCV002661834] Chr16:3992330 [GRCh38]
Chr16:4042331 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2716G>A (p.Val906Ile) single nucleotide variant Inborn genetic diseases [RCV002693923] Chr16:3977594 [GRCh38]
Chr16:4027595 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1736C>T (p.Ser579Phe) single nucleotide variant Inborn genetic diseases [RCV002998121] Chr16:4007516 [GRCh38]
Chr16:4057517 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.860T>C (p.Leu287Pro) single nucleotide variant Inborn genetic diseases [RCV002827623] Chr16:4114583 [GRCh38]
Chr16:4164584 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2143C>G (p.Leu715Val) single nucleotide variant Inborn genetic diseases [RCV002854438] Chr16:3992210 [GRCh38]
Chr16:4042211 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3282G>C (p.Glu1094Asp) single nucleotide variant Inborn genetic diseases [RCV002827216] Chr16:3966555 [GRCh38]
Chr16:4016556 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3788G>A (p.Arg1263His) single nucleotide variant Inborn genetic diseases [RCV002666383] Chr16:3966049 [GRCh38]
Chr16:4016050 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.716A>C (p.His239Pro) single nucleotide variant Inborn genetic diseases [RCV002767723] Chr16:4114727 [GRCh38]
Chr16:4164728 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2437A>G (p.Thr813Ala) single nucleotide variant Inborn genetic diseases [RCV002709774] Chr16:3983314 [GRCh38]
Chr16:4033315 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.1214A>G (p.Lys405Arg) single nucleotide variant Inborn genetic diseases [RCV002874179] Chr16:4114229 [GRCh38]
Chr16:4164230 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1417A>G (p.Ile473Val) single nucleotide variant Inborn genetic diseases [RCV002916006] Chr16:4114026 [GRCh38]
Chr16:4164027 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3929G>T (p.Arg1310Ile) single nucleotide variant Inborn genetic diseases [RCV002897273] Chr16:3965908 [GRCh38]
Chr16:4015909 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.656C>T (p.Ser219Phe) single nucleotide variant Inborn genetic diseases [RCV002877703] Chr16:4114787 [GRCh38]
Chr16:4164788 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1613A>G (p.Tyr538Cys) single nucleotide variant Inborn genetic diseases [RCV002717702] Chr16:4113830 [GRCh38]
Chr16:4163831 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2629G>A (p.Ala877Thr) single nucleotide variant Inborn genetic diseases [RCV002677857] Chr16:3979166 [GRCh38]
Chr16:4029167 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2741A>C (p.Gln914Pro) single nucleotide variant Inborn genetic diseases [RCV003215496] Chr16:3977569 [GRCh38]
Chr16:4027570 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2821C>G (p.Pro941Ala) single nucleotide variant Inborn genetic diseases [RCV003203183] Chr16:3977489 [GRCh38]
Chr16:4027490 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1852G>A (p.Ala618Thr) single nucleotide variant Inborn genetic diseases [RCV003211269] Chr16:4007400 [GRCh38]
Chr16:4057401 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3962G>A (p.Arg1321Lys) single nucleotide variant Inborn genetic diseases [RCV003308990] Chr16:3965875 [GRCh38]
Chr16:4015876 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3800A>G (p.Asp1267Gly) single nucleotide variant Inborn genetic diseases [RCV003359612] Chr16:3966037 [GRCh38]
Chr16:4016038 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.431T>G (p.Val144Gly) single nucleotide variant Inborn genetic diseases [RCV003344654] Chr16:4115012 [GRCh38]
Chr16:4165013 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.2705C>T (p.Ala902Val) single nucleotide variant Inborn genetic diseases [RCV003364877] Chr16:3977605 [GRCh38]
Chr16:4027606 [GRCh37]
Chr16:16p13.3
likely benign
NM_001116.4(ADCY9):c.3163G>T (p.Asp1055Tyr) single nucleotide variant Inborn genetic diseases [RCV003374657] Chr16:3966674 [GRCh38]
Chr16:4016675 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.3382G>A (p.Gly1128Ser) single nucleotide variant Inborn genetic diseases [RCV003374658] Chr16:3966455 [GRCh38]
Chr16:4016456 [GRCh37]
Chr16:16p13.3
uncertain significance
NM_001116.4(ADCY9):c.1787G>A (p.Gly596Asp) single nucleotide variant Inborn genetic diseases [RCV003352127] 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
miRNA Target Status

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.

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
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 1646 1645 957 172 135 119 2934 1853 1411 172 731 1463 60 578 2335 2
Low 786 1200 765 452 1289 345 1421 339 2307 246 717 146 112 626 453 2 2
Below cutoff 5 145 4 483 1 3 14 1 10 1 2 1 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

RefSeq Acc Id: ENST00000294016   ⟹   ENSP00000294016
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,962,653 - 4,116,442 (-)Ensembl
RefSeq Acc Id: ENST00000571467   ⟹   ENSP00000460160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,989,084 - 4,113,925 (-)Ensembl
RefSeq Acc Id: ENST00000571889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,989,089 - 4,054,190 (-)Ensembl
RefSeq Acc Id: ENST00000572288   ⟹   ENSP00000461825
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,992,222 - 4,114,026 (-)Ensembl
RefSeq Acc Id: ENST00000574721
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,981,773 - 3,984,150 (-)Ensembl
RefSeq Acc Id: ENST00000575550
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl163,983,392 - 4,015,682 (-)Ensembl
RefSeq 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:
RefSeq Acc Id: ENSP00000294016   ⟸   ENST00000294016
RefSeq Acc Id: ENSP00000460160   ⟸   ENST00000571467
RefSeq Acc Id: ENSP00000461825   ⟸   ENST00000572288
RefSeq 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, UniProtKB/TrEMBL
Ensembl Transcript ENST00000294016 ENTREZGENE
  ENST00000294016.8 UniProtKB/Swiss-Prot
  ENST00000571467.1 UniProtKB/TrEMBL
  ENST00000572288.1 UniProtKB/TrEMBL
  ENST00000576936.5 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000162104 GTEx
HGNC ID HGNC:240 ENTREZGENE
Human Proteome Map ADCY9 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:115 UniProtKB/Swiss-Prot
NCBI Gene 115 ENTREZGENE
OMIM 603302 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADENYLATE CYCLASE TYPE 9 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADCY9 RGD, PharmGKB
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
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