ADCY7 (adenylate cyclase 7) - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)
Gene: ADCY7 (adenylate cyclase 7) Homo sapiens
Analyze
Symbol: ADCY7
Name: adenylate cyclase 7
RGD ID: 735780
HGNC Page HGNC:238
Description: Enables adenylate cyclase activity. Involved in cAMP biosynthetic process and cellular response to ethanol. Located in membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC7; adenylate cyclase type 7; adenylate cyclase type VII; adenylyl cyclase 7; ATP pyrophosphate-lyase 7; FLJ36387; KIAA0037
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
GRCh381650,244,699 - 50,318,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1650,246,137 - 50,318,135 (+)EnsemblGRCh38hg38GRCh38
GRCh371650,300,462 - 50,352,046 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361648,879,324 - 48,909,544 (+)NCBINCBI36Build 36hg18NCBI36
Build 341648,879,322 - 48,909,544NCBI
Celera1634,836,237 - 34,866,457 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1636,209,729 - 36,239,954 (+)NCBIHuRef
CHM1_11651,728,925 - 51,759,142 (+)NCBICHM1_1
T2T-CHM13v2.01656,042,542 - 56,115,969 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-methylcholanthrene  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrolein  (EXP)
acrylamide  (ISO)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
albendazole  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (EXP)
alpha-amanitin  (ISO)
alpha-pinene  (EXP)
amitrole  (ISO)
arsenite(3-)  (EXP)
Azoxymethane  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-chloroethyl) sulfide  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
C60 fullerene  (ISO)
cadmium atom  (EXP)
caffeine  (ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
choline  (ISO)
Cuprizon  (ISO)
cyclosporin A  (EXP)
D-glucose  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
dicrotophos  (EXP)
diethylstilbestrol  (ISO)
dioxygen  (ISO)
divanadium pentaoxide  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP,ISO)
entinostat  (EXP)
ethanol  (ISO)
folic acid  (ISO)
fucoxanthin  (ISO)
gamma-aminobutyric acid  (ISO)
genistein  (EXP)
gentamycin  (ISO)
glucose  (ISO)
inulin  (ISO)
ivermectin  (EXP)
L-methionine  (ISO)
lipopolysaccharide  (EXP)
methapyrilene  (EXP)
methimazole  (ISO)
methotrexate  (ISO)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
nickel sulfate  (EXP)
nicotine  (ISO)
ozone  (EXP)
paracetamol  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
rac-lactic acid  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
sulforaphane  (ISO)
tamoxifen  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
membrane  (IDA,IEA)
plasma membrane  (IBA,IEA,ISS,TAS)

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Localization of the gene for a novel human adenylyl cyclase (ADCY7) to chromosome 16. Hellevuo K, etal., Hum Genet 1995 Feb;95(2):197-200.
3. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
4. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. Physiological roles for G protein-regulated adenylyl cyclase isoforms: insights from knockout and overexpression studies. Sadana R and Dessauer CW, Neurosignals. 2009;17(1):5-22. Epub 2008 Oct 24.
Additional References at PubMed
PMID:2165385   PMID:7584026   PMID:7584028   PMID:7937899   PMID:8663304   PMID:9034014   PMID:9417641   PMID:10089566   PMID:10807185   PMID:10808179   PMID:11113152   PMID:11299302  
PMID:11665607   PMID:11884542   PMID:12454008   PMID:12477932   PMID:12503609   PMID:12626323   PMID:14702039   PMID:14993377   PMID:15342556   PMID:15489334   PMID:15581358   PMID:16344560  
PMID:17135423   PMID:17760784   PMID:18541530   PMID:19008230   PMID:19874574   PMID:21481845   PMID:21822266   PMID:21873635   PMID:21988832   PMID:22264442   PMID:23128233   PMID:23178822  
PMID:23229509   PMID:23842570   PMID:25959651   PMID:26220344   PMID:28067910   PMID:30021884   PMID:30366671   PMID:33961781   PMID:34143288   PMID:34177802   PMID:34535262   PMID:35748872  


Genomics

Comparative Map Data
ADCY7
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381650,244,699 - 50,318,135 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1650,246,137 - 50,318,135 (+)EnsemblGRCh38hg38GRCh38
GRCh371650,300,462 - 50,352,046 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361648,879,324 - 48,909,544 (+)NCBINCBI36Build 36hg18NCBI36
Build 341648,879,322 - 48,909,544NCBI
Celera1634,836,237 - 34,866,457 (+)NCBICelera
Cytogenetic Map16q12.1NCBI
HuRef1636,209,729 - 36,239,954 (+)NCBIHuRef
CHM1_11651,728,925 - 51,759,142 (+)NCBICHM1_1
T2T-CHM13v2.01656,042,542 - 56,115,969 (+)NCBIT2T-CHM13v2.0
Adcy7
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39888,998,818 - 89,056,593 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl888,999,031 - 89,056,590 (+)EnsemblGRCm39 Ensembl
GRCm38888,272,190 - 88,329,965 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl888,272,403 - 88,329,962 (+)EnsemblGRCm38mm10GRCm38
MGSCv37890,796,302 - 90,853,861 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36891,162,508 - 91,220,066 (+)NCBIMGSCv36mm8
Celera892,546,581 - 92,603,919 (+)NCBICelera
Cytogenetic Map8C3NCBI
cM Map843.06NCBI
Adcy7
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81934,913,154 - 34,972,366 (-)NCBIGRCr8
mRatBN7.21918,740,875 - 18,798,924 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1918,740,875 - 18,776,311 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1920,420,432 - 20,442,652 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01925,615,052 - 25,637,279 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01928,572,695 - 28,594,923 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01919,702,307 - 19,762,973 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1919,704,859 - 19,727,081 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01930,730,189 - 30,752,411 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41920,051,639 - 20,073,861 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1918,626,035 - 18,648,205 (-)NCBICelera
Cytogenetic Map19p11NCBI
Adcy7
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554338,362,756 - 8,426,997 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554338,362,957 - 8,428,773 (+)NCBIChiLan1.0ChiLan1.0
ADCY7
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21859,702,690 - 59,775,133 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11665,607,365 - 65,680,787 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01630,507,836 - 30,581,068 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11649,410,136 - 49,462,178 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1649,410,143 - 49,462,278 (+)Ensemblpanpan1.1panPan2
ADCY7
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1265,003,891 - 65,034,812 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl265,006,038 - 65,034,777 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha261,576,124 - 61,613,996 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0265,548,675 - 65,586,554 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl265,548,666 - 65,581,747 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1262,372,148 - 62,410,016 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0263,391,818 - 63,429,762 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0264,280,085 - 64,318,009 (-)NCBIUU_Cfam_GSD_1.0
Adcy7
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934956,195,769 - 56,248,303 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364753,340,800 - 3,394,698 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364753,368,069 - 3,393,306 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY7
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl634,519,180 - 34,585,779 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1634,521,503 - 34,586,384 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
ADCY7
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1536,086,680 - 36,122,021 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl536,065,319 - 36,113,921 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604740,386,043 - 40,459,914 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy7
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247576,338,006 - 6,389,032 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247576,336,395 - 6,391,149 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY7
101 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52314178)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052404]|See cases [RCV000052404] Chr16:46466829..52314178 [GRCh38]
Chr16:46500741..52348090 [GRCh37]
Chr16:45058242..50905591 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51939304)x1 copy number loss See cases [RCV000053309] Chr16:46466829..51939304 [GRCh38]
Chr16:46500741..51973216 [GRCh37]
Chr16:45058242..50530717 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-51673196)x1 copy number loss See cases [RCV000053310] Chr16:46466829..51673196 [GRCh38]
Chr16:46500741..51707107 [GRCh37]
Chr16:45058242..50264608 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46471520-52405956)x1 copy number loss See cases [RCV000053328] Chr16:46471520..52405956 [GRCh38]
Chr16:46505432..52439868 [GRCh37]
Chr16:45062933..50997369 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:47250644-54121476)x1 copy number loss See cases [RCV000053329] Chr16:47250644..54121476 [GRCh38]
Chr16:47284555..54155388 [GRCh37]
Chr16:45842056..52712889 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1(chr16:48156593-52220374)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053330]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053330]|See cases [RCV000053330] Chr16:48156593..52220374 [GRCh38]
Chr16:48190504..52254286 [GRCh37]
Chr16:46748005..50811787 [NCBI36]
Chr16:16q12.1		 pathogenic
GRCh38/hg38 16q12.1(chr16:49740807-51876620)x1 copy number loss See cases [RCV000053331] Chr16:49740807..51876620 [GRCh38]
Chr16:49774718..51910531 [GRCh37]
Chr16:48332219..50468032 [NCBI36]
Chr16:16q12.1		 pathogenic
NM_001114.4(ADCY7):c.637G>A (p.Val213Met) single nucleotide variant Malignant melanoma [RCV000071147] Chr16:50292775 [GRCh38]
Chr16:50326686 [GRCh37]
Chr16:48884187 [NCBI36]
Chr16:16q12.1		 not provided
NM_001114.4(ADCY7):c.638T>A (p.Val213Glu) single nucleotide variant Malignant melanoma [RCV000071148] Chr16:50292776 [GRCh38]
Chr16:50326687 [GRCh37]
Chr16:48884188 [NCBI36]
Chr16:16q12.1		 not provided
NM_001114.4(ADCY7):c.1291G>A (p.Glu431Lys) single nucleotide variant Malignant melanoma [RCV000063052] Chr16:50301137 [GRCh38]
Chr16:50335048 [GRCh37]
Chr16:48892549 [NCBI36]
Chr16:16q12.1		 not provided
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52422170)x1 copy number loss See cases [RCV000137306] Chr16:46466829..52422170 [GRCh38]
Chr16:46500741..52456082 [GRCh37]
Chr16:45058242..51013583 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q11.2-12.1(chr16:46466829-52355793)x3 copy number gain See cases [RCV000137170] Chr16:46466829..52355793 [GRCh38]
Chr16:46500741..52389705 [GRCh37]
Chr16:45058242..50947206 [NCBI36]
Chr16:16q11.2-12.1		 pathogenic
GRCh38/hg38 16q12.1-12.2(chr16:49570553-53467065)x1 copy number loss See cases [RCV000137722] Chr16:49570553..53467065 [GRCh38]
Chr16:49604464..53500977 [GRCh37]
Chr16:48161965..52058478 [NCBI36]
Chr16:16q12.1-12.2		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh38/hg38 16q12.1-12.2(chr16:48543083-53879916)x1 copy number loss Breast ductal adenocarcinoma [RCV000207292] Chr16:48543083..53879916 [GRCh38]
Chr16:48576994..53913828 [GRCh37]
Chr16:16q12.1-12.2		 uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 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 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
GRCh37/hg19 16p11.2-q21(chr16:34197492-64509054)x3 copy number gain See cases [RCV000511791] Chr16:34197492..64509054 [GRCh37]
Chr16:16p11.2-q21		 pathogenic
GRCh37/hg19 16q11.2-12.1(chr16:46737110-51838691)x1 copy number loss See cases [RCV000511950] Chr16:46737110..51838691 [GRCh37]
Chr16:16q11.2-12.1		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
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
NM_001114.5(ADCY7):c.1780C>T (p.Arg594Cys) single nucleotide variant not specified [RCV004302721] Chr16:50307077 [GRCh38]
Chr16:50340988 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.178T>C (p.Ser60Pro) single nucleotide variant not provided [RCV003427719]|not specified [RCV004291611] Chr16:50290463 [GRCh38]
Chr16:50324374 [GRCh37]
Chr16:16q12.1		 likely benign|uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
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 16q12.1(chr16:50263152-50371738)x3 copy number gain not provided [RCV000739154] Chr16:50263152..50371738 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.949-10C>T single nucleotide variant not provided [RCV000965329] Chr16:50298894 [GRCh38]
Chr16:50332805 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.2832C>T (p.Ser944=) single nucleotide variant not provided [RCV000947702] Chr16:50314038 [GRCh38]
Chr16:50347949 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.1302C>G (p.His434Gln) single nucleotide variant not specified [RCV004299541] Chr16:50301148 [GRCh38]
Chr16:50335059 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1029C>T (p.His343=) single nucleotide variant not provided [RCV000963130] Chr16:50298984 [GRCh38]
Chr16:50332895 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.128C>T (p.Ala43Val) single nucleotide variant not specified [RCV004320834] Chr16:50288307 [GRCh38]
Chr16:50322218 [GRCh37]
Chr16:16q12.1		 likely benign
Single allele duplication not provided [RCV001542388] Chr16:46385317..61223349 [GRCh38]
Chr16:16q11.2-21		 pathogenic
NM_001114.5(ADCY7):c.1836C>T (p.Val612=) single nucleotide variant not provided [RCV000931786] Chr16:50307133 [GRCh38]
Chr16:50341044 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.3153T>C (p.Arg1051=) single nucleotide variant not provided [RCV000974286] Chr16:50315415 [GRCh38]
Chr16:50349326 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.2061+9C>T single nucleotide variant not provided [RCV000953359] Chr16:50308801 [GRCh38]
Chr16:50342712 [GRCh37]
Chr16:16q12.1		 benign
NM_001114.5(ADCY7):c.1665G>A (p.Gly555=) single nucleotide variant not provided [RCV000957412] Chr16:50305572 [GRCh38]
Chr16:50339483 [GRCh37]
Chr16:16q12.1		 benign
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NC_000016.9:g.(?_49525186)_(51631253_?)del deletion Nephronophthisis 14 [RCV003119486]|Townes syndrome [RCV004579603] Chr16:49525186..51631253 [GRCh37]
Chr16:16q12.1		 pathogenic|uncertain significance
NC_000016.9:g.(?_49525186)_(51631253_?)dup duplication Nephronophthisis 14 [RCV003119487] Chr16:49525186..51631253 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q12.1(chr16:50093691-51651454)x1 copy number loss Syndromic anorectal malformation [RCV002286604] Chr16:50093691..51651454 [GRCh37]
Chr16:16q12.1		 association
NM_001114.5(ADCY7):c.1571A>G (p.Gln524Arg) single nucleotide variant not specified [RCV004302552] Chr16:50304935 [GRCh38]
Chr16:50338846 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1701T>A (p.Asp567Glu) single nucleotide variant not specified [RCV004330110] Chr16:50305798 [GRCh38]
Chr16:50339709 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1786G>A (p.Asp596Asn) single nucleotide variant not specified [RCV004310235] Chr16:50307083 [GRCh38]
Chr16:50340994 [GRCh37]
Chr16:16q12.1		 uncertain significance
GRCh37/hg19 16q11.2-21(chr16:46503573-62203182)x3 copy number gain not provided [RCV002472562] Chr16:46503573..62203182 [GRCh37]
Chr16:16q11.2-21		 pathogenic
NM_001114.5(ADCY7):c.139G>A (p.Val47Met) single nucleotide variant not specified [RCV004086821] Chr16:50288318 [GRCh38]
Chr16:50322229 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.992A>G (p.Tyr331Cys) single nucleotide variant not specified [RCV004166740] Chr16:50298947 [GRCh38]
Chr16:50332858 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.621C>A (p.Asp207Glu) single nucleotide variant not specified [RCV004140660] Chr16:50292759 [GRCh38]
Chr16:50326670 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1583G>A (p.Arg528Gln) single nucleotide variant not specified [RCV004193871] Chr16:50304947 [GRCh38]
Chr16:50338858 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2392A>G (p.Met798Val) single nucleotide variant not specified [RCV004084780] Chr16:50311730 [GRCh38]
Chr16:50345641 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1969A>G (p.Ile657Val) single nucleotide variant not specified [RCV004228657] Chr16:50308700 [GRCh38]
Chr16:50342611 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1335G>A (p.Met445Ile) single nucleotide variant not specified [RCV004100259] Chr16:50301181 [GRCh38]
Chr16:50335092 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1537G>A (p.Val513Ile) single nucleotide variant not specified [RCV004230880] Chr16:50304528 [GRCh38]
Chr16:50338439 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2123C>T (p.Ala708Val) single nucleotide variant not specified [RCV004190678] Chr16:50309609 [GRCh38]
Chr16:50343520 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.554T>C (p.Val185Ala) single nucleotide variant not specified [RCV004169713] Chr16:50292692 [GRCh38]
Chr16:50326603 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.253G>A (p.Val85Ile) single nucleotide variant not specified [RCV004154396] Chr16:50290538 [GRCh38]
Chr16:50324449 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2143C>G (p.Leu715Val) single nucleotide variant not specified [RCV004213689] Chr16:50309629 [GRCh38]
Chr16:50343540 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2666A>G (p.Lys889Arg) single nucleotide variant not specified [RCV004112892] Chr16:50312951 [GRCh38]
Chr16:50346862 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2536C>T (p.Arg846Cys) single nucleotide variant not specified [RCV004087464] Chr16:50312123 [GRCh38]
Chr16:50346034 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.996T>G (p.Cys332Trp) single nucleotide variant not specified [RCV004142806] Chr16:50298951 [GRCh38]
Chr16:50332862 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1853C>T (p.Thr618Met) single nucleotide variant not specified [RCV004206815] Chr16:50308329 [GRCh38]
Chr16:50342240 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.3233G>C (p.Gly1078Ala) single nucleotide variant not specified [RCV004087983] Chr16:50315495 [GRCh38]
Chr16:50349406 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.434G>A (p.Arg145Gln) single nucleotide variant not specified [RCV004204337] Chr16:50291794 [GRCh38]
Chr16:50325705 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.2152C>A (p.Pro718Thr) single nucleotide variant not specified [RCV004207452] Chr16:50309638 [GRCh38]
Chr16:50343549 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1465G>A (p.Glu489Lys) single nucleotide variant not specified [RCV004081494] Chr16:50304456 [GRCh38]
Chr16:50338367 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1855G>A (p.Ala619Thr) single nucleotide variant not specified [RCV004094034] Chr16:50308331 [GRCh38]
Chr16:50342242 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2180T>C (p.Val727Ala) single nucleotide variant not specified [RCV004075062] Chr16:50310706 [GRCh38]
Chr16:50344617 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2746G>A (p.Asp916Asn) single nucleotide variant not specified [RCV004151188] Chr16:50313031 [GRCh38]
Chr16:50346942 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.272G>A (p.Arg91His) single nucleotide variant not specified [RCV004083678] Chr16:50290557 [GRCh38]
Chr16:50324468 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1828G>A (p.Val610Ile) single nucleotide variant not specified [RCV004142392] Chr16:50307125 [GRCh38]
Chr16:50341036 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.1240G>A (p.Val414Met) single nucleotide variant not specified [RCV004171372] Chr16:50301086 [GRCh38]
Chr16:50334997 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2489A>T (p.Lys830Met) single nucleotide variant not specified [RCV004207826] Chr16:50312076 [GRCh38]
Chr16:50345987 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.3103G>A (p.Glu1035Lys) single nucleotide variant not specified [RCV004131711] Chr16:50315365 [GRCh38]
Chr16:50349276 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2549A>G (p.Glu850Gly) single nucleotide variant not specified [RCV004280695] Chr16:50312136 [GRCh38]
Chr16:50346047 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1456C>T (p.Arg486Trp) single nucleotide variant not specified [RCV004357881] Chr16:50304447 [GRCh38]
Chr16:50338358 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.644G>A (p.Cys215Tyr) single nucleotide variant not specified [RCV004352047] Chr16:50292782 [GRCh38]
Chr16:50326693 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1606C>T (p.Pro536Ser) single nucleotide variant not specified [RCV004347035] Chr16:50305513 [GRCh38]
Chr16:50339424 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2799C>T (p.Ile933=) single nucleotide variant not provided [RCV003426697] Chr16:50314005 [GRCh38]
Chr16:50347916 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.1785C>T (p.His595=) single nucleotide variant not provided [RCV003426696] Chr16:50307082 [GRCh38]
Chr16:50340993 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.255C>T (p.Val85=) single nucleotide variant not provided [RCV003426695] Chr16:50290540 [GRCh38]
Chr16:50324451 [GRCh37]
Chr16:16q12.1		 likely benign
NM_001114.5(ADCY7):c.2243T>C (p.Leu748Pro) single nucleotide variant not specified [RCV004373541] Chr16:50310769 [GRCh38]
Chr16:50344680 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2601C>A (p.Asn867Lys) single nucleotide variant not specified [RCV004373556] Chr16:50312188 [GRCh38]
Chr16:50346099 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.283G>T (p.Ala95Ser) single nucleotide variant not specified [RCV004373570] Chr16:50290568 [GRCh38]
Chr16:50324479 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1582C>T (p.Arg528Trp) single nucleotide variant not specified [RCV004373490] Chr16:50304946 [GRCh38]
Chr16:50338857 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1658T>C (p.Ile553Thr) single nucleotide variant not specified [RCV004373498] Chr16:50305565 [GRCh38]
Chr16:50339476 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1034G>A (p.Arg345Gln) single nucleotide variant not specified [RCV004373459] Chr16:50298989 [GRCh38]
Chr16:50332900 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1669A>G (p.Ser557Gly) single nucleotide variant not specified [RCV004373501] Chr16:50305576 [GRCh38]
Chr16:50339487 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.173A>G (p.Asp58Gly) single nucleotide variant not specified [RCV004373507] Chr16:50290458 [GRCh38]
Chr16:50324369 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1994C>T (p.Pro665Leu) single nucleotide variant not specified [RCV004373526] Chr16:50308725 [GRCh38]
Chr16:50342636 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2044G>C (p.Val682Leu) single nucleotide variant not specified [RCV004373528] Chr16:50308775 [GRCh38]
Chr16:50342686 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1484G>T (p.Arg495Leu) single nucleotide variant not specified [RCV004373479] Chr16:50304475 [GRCh38]
Chr16:50338386 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1544A>G (p.Asn515Ser) single nucleotide variant not specified [RCV004373482] Chr16:50304535 [GRCh38]
Chr16:50338446 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2044G>T (p.Val682Leu) single nucleotide variant not specified [RCV004373530] Chr16:50308775 [GRCh38]
Chr16:50342686 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.3166G>A (p.Val1056Ile) single nucleotide variant not specified [RCV004373578] Chr16:50315428 [GRCh38]
Chr16:50349339 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.110C>T (p.Thr37Met) single nucleotide variant not specified [RCV004373462] Chr16:50288289 [GRCh38]
Chr16:50322200 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1421C>T (p.Ala474Val) single nucleotide variant not specified [RCV004373476] Chr16:50304412 [GRCh38]
Chr16:50338323 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2186G>T (p.Gly729Val) single nucleotide variant not specified [RCV004613453] Chr16:50310712 [GRCh38]
Chr16:50344623 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1289T>C (p.Val430Ala) single nucleotide variant not specified [RCV004613471] Chr16:50301135 [GRCh38]
Chr16:50335046 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2089C>G (p.Leu697Val) single nucleotide variant not specified [RCV004613481] Chr16:50309575 [GRCh38]
Chr16:50343486 [GRCh37]
Chr16:16q12.1		 uncertain significance
NC_000016.9:g.(?_48799549)_(70756330_?)dup duplication Chromosome 16q12 duplication syndrome [RCV004595820] Chr16:48799549..70756330 [GRCh37]
Chr16:16q12.1-22.1		 likely pathogenic
GRCh37/hg19 16q12.1(chr16:50297913-50508101)x1 copy number loss not provided [RCV004819880] Chr16:50297913..50508101 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2575G>A (p.Ala859Thr) single nucleotide variant not specified [RCV004897397] Chr16:50312162 [GRCh38]
Chr16:50346073 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2716C>T (p.Arg906Cys) single nucleotide variant not specified [RCV004897435] Chr16:50313001 [GRCh38]
Chr16:50346912 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2863G>C (p.Glu955Gln) single nucleotide variant not specified [RCV004897466] Chr16:50314298 [GRCh38]
Chr16:50348209 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.667C>A (p.Arg223Ser) single nucleotide variant not specified [RCV004897387] Chr16:50292805 [GRCh38]
Chr16:50326716 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.869A>T (p.Gln290Leu) single nucleotide variant not specified [RCV004897393] Chr16:50294672 [GRCh38]
Chr16:50328583 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.328G>A (p.Val110Met) single nucleotide variant not specified [RCV004897394] Chr16:50290613 [GRCh38]
Chr16:50324524 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1765C>A (p.Pro589Thr) single nucleotide variant not specified [RCV004897425] Chr16:50307062 [GRCh38]
Chr16:50340973 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2404T>C (p.Tyr802His) single nucleotide variant not specified [RCV004897376] Chr16:50311742 [GRCh38]
Chr16:50345653 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1267C>A (p.His423Asn) single nucleotide variant not specified [RCV004897379] Chr16:50301113 [GRCh38]
Chr16:50335024 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2216T>G (p.Met739Arg) single nucleotide variant not specified [RCV004897444] Chr16:50310742 [GRCh38]
Chr16:50344653 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1819A>G (p.Ile607Val) single nucleotide variant not specified [RCV004897455] Chr16:50307116 [GRCh38]
Chr16:50341027 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2881A>G (p.Ile961Val) single nucleotide variant not specified [RCV004897470] Chr16:50314316 [GRCh38]
Chr16:50348227 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.57T>G (p.Asp19Glu) single nucleotide variant not specified [RCV004897471] Chr16:50288236 [GRCh38]
Chr16:50322147 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.326A>G (p.Tyr109Cys) single nucleotide variant not specified [RCV004897472] Chr16:50290611 [GRCh38]
Chr16:50324522 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.656G>A (p.Arg219His) single nucleotide variant not specified [RCV004897389] Chr16:50292794 [GRCh38]
Chr16:50326705 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2630G>C (p.Cys877Ser) single nucleotide variant not specified [RCV004897390] Chr16:50312915 [GRCh38]
Chr16:50346826 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1739G>A (p.Gly580Asp) single nucleotide variant not specified [RCV004897392] Chr16:50305836 [GRCh38]
Chr16:50339747 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.902T>C (p.Val301Ala) single nucleotide variant not specified [RCV004897398] Chr16:50294705 [GRCh38]
Chr16:50328616 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2908G>A (p.Ala970Thr) single nucleotide variant not specified [RCV004897399] Chr16:50314343 [GRCh38]
Chr16:50348254 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.56A>T (p.Asp19Val) single nucleotide variant not specified [RCV004897418] Chr16:50288235 [GRCh38]
Chr16:50322146 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1366C>T (p.Arg456Trp) single nucleotide variant not specified [RCV004897388] Chr16:50301212 [GRCh38]
Chr16:50335123 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1259C>T (p.Thr420Met) single nucleotide variant not specified [RCV004897391] Chr16:50301105 [GRCh38]
Chr16:50335016 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2290T>C (p.Cys764Arg) single nucleotide variant not specified [RCV004897395] Chr16:50310816 [GRCh38]
Chr16:50344727 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.1339A>G (p.Ile447Val) single nucleotide variant not specified [RCV004897396] Chr16:50301185 [GRCh38]
Chr16:50335096 [GRCh37]
Chr16:16q12.1		 uncertain significance
NM_001114.5(ADCY7):c.2549A>C (p.Glu850Ala) single nucleotide variant not specified [RCV004897407] Chr16:50312136 [GRCh38]
Chr16:50346047 [GRCh37]
Chr16:16q12.1		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:6422
Count of miRNA genes:1264
Interacting mature miRNAs:1661
Transcripts:ENST00000254235, ENST00000394697, ENST00000537579, ENST00000538642, ENST00000562623, ENST00000563677, ENST00000564044, ENST00000564965, ENST00000566433, ENST00000566761, ENST00000567277, ENST00000568731, ENST00000568930, ENST00000568933, ENST00000569265, ENST00000570187
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406938656GWAS587632_Heosinophil percentage of leukocytes QTL GWAS587632 (human)9e-17eosinophil quantity (VT:0002602)blood eosinophil count to total leukocyte count ratio (CMO:0000369)165030116350301164Human
597056532GWAS1152606_Heosinophil count QTL GWAS1152606 (human)4e-14eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)165030116350301164Human
597257851GWAS1353925_Hclinical treatment QTL GWAS1353925 (human)5e-10clinical treatment165030116350301164Human
597060149GWAS1156223_Hhypothyroidism QTL GWAS1156223 (human)1e-16hypothyroidism165030116350301164Human
597163507GWAS1259581_Hhypothyroidism QTL GWAS1259581 (human)1e-09hypothyroidism165030116350301164Human
597111091GWAS1207165_HThyroid preparation use measurement QTL GWAS1207165 (human)5e-10Thyroid preparation use measurement165031629950316300Human
596980531GWAS1100050_Htelomere length QTL GWAS1100050 (human)1e-17telomere length165024608350246084Human
597081456GWAS1177530_Hautoimmune thyroid disease QTL GWAS1177530 (human)1e-14ulcerative colitis165030116350301164Human
597021445GWAS1117519_Hulcerative colitis QTL GWAS1117519 (human)3e-13ulcerative colitis165030116350301164Human
596951140GWAS1070659_Hulcerative colitis QTL GWAS1070659 (human)1e-14ulcerative colitis165030116350301164Human
597278664GWAS1374738_Hhypothyroidism QTL GWAS1374738 (human)8e-15hypothyroidism165030116350301164Human
597053604GWAS1149678_Heosinophil count QTL GWAS1149678 (human)1e-11eosinophil quantity (VT:0002602)blood eosinophil count (CMO:0000033)165030116350301164Human
597094786GWAS1190860_Hautoimmune thyroid disease, systemic lupus erythematosus, type 1 diabetes mellitus, ankylosing spondylitis, psoriasis, common variable immunodeficiency, celiac disease, ulcerative colitis, Crohn's disease, autoimmune disease, juvenile idiopathic arthritis QTL GWAS1190860 (human)6e-09intestine integrity trait (VT:0010554)165027033850270339Human
597053155GWAS1149229_Hautoimmune disease QTL GWAS1149229 (human)5e-13autoimmune disease165030116350301164Human
597021059GWAS1117133_Hinflammatory bowel disease QTL GWAS1117133 (human)2e-12inflammatory bowel disease165030116350301164Human
597146528GWAS1242602_HCOVID-19 QTL GWAS1242602 (human)2e-09COVID-19165026683250266833Human
597122528GWAS1218602_Hulcerative colitis, Crohn's disease QTL GWAS1218602 (human)0.000005intestine integrity trait (VT:0010554)165027033850270339Human
596952971GWAS1072490_Heosinophil count QTL GWAS1072490 (human)1e-11eosinophil count165030116350301164Human

Markers in Region
D16S2967  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,350,945 - 50,351,052UniSTSGRCh37
Build 361648,908,446 - 48,908,553RGDNCBI36
Celera1634,865,359 - 34,865,466RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,238,856 - 36,238,963UniSTS
Whitehead-RH Map16258.6UniSTS
RH25275  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,350,675 - 50,350,991UniSTSGRCh37
Build 361648,908,176 - 48,908,492RGDNCBI36
Celera1634,865,089 - 34,865,405RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,238,586 - 36,238,902UniSTS
GDB:511421  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,351,075 - 50,351,284UniSTSGRCh37
Build 361648,908,576 - 48,908,785RGDNCBI36
Celera1634,865,489 - 34,865,698RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,238,986 - 36,239,195UniSTS
SHGC-147943  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,332,532 - 50,332,843UniSTSGRCh37
Build 361648,890,033 - 48,890,344RGDNCBI36
Celera1634,846,946 - 34,847,257RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,220,442 - 36,220,753UniSTS
SHGC-149723  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,332,843 - 50,333,113UniSTSGRCh37
Build 361648,890,344 - 48,890,614RGDNCBI36
Celera1634,847,257 - 34,847,527RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,220,753 - 36,221,023UniSTS
G10670  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,351,499 - 50,351,735UniSTSGRCh37
Build 361648,909,000 - 48,909,236RGDNCBI36
Celera1634,865,913 - 34,866,149RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,239,410 - 36,239,646UniSTS
SHGC-60768  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371650,347,429 - 50,347,556UniSTSGRCh37
Build 361648,904,930 - 48,905,057RGDNCBI36
Celera1634,861,843 - 34,861,970RGD
Cytogenetic Map16q12.1UniSTS
HuRef1636,235,340 - 36,235,467UniSTS
GeneMap99-GB4 RH Map16344.52UniSTS
Whitehead-RH Map16259.7UniSTS
NCBI RH Map16362.6UniSTS


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 2439 2787 2252 4968 1724 2347 6 622 1951 463 2268 7299 6469 53 3730 1 849 1743 1616 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001114 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001286057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522835 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522836 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522837 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522838 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522839 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522840 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522842 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017022899 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433551 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433553 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433558 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433559 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433561 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433563 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433565 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433568 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433569 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433570 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433571 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379480 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379481 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379483 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379484 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379485 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379487 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379492 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379493 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379495 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379497 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379498 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379499 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379505 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379507 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001751822 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA740624 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC039891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC098566 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC126271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC144120 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM543987 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP270410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU631614 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D25538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA047753 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY102720 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF456186 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OP038625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000254235   ⟹   ENSP00000254235
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,287,912 - 50,318,132 (+)Ensembl
Ensembl Acc Id: ENST00000394697   ⟹   ENSP00000378187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,266,551 - 50,318,135 (+)Ensembl
Ensembl Acc Id: ENST00000537579   ⟹   ENSP00000437788
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,287,911 - 50,310,515 (+)Ensembl
Ensembl Acc Id: ENST00000563677
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,274,131 - 50,298,981 (+)Ensembl
Ensembl Acc Id: ENST00000564044   ⟹   ENSP00000501222
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,246,148 - 50,299,011 (+)Ensembl
Ensembl Acc Id: ENST00000564965   ⟹   ENSP00000460636
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,246,137 - 50,290,528 (+)Ensembl
Ensembl Acc Id: ENST00000566433   ⟹   ENSP00000457409
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,266,551 - 50,310,523 (+)Ensembl
Ensembl Acc Id: ENST00000566761   ⟹   ENSP00000454301
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,274,153 - 50,290,518 (+)Ensembl
Ensembl Acc Id: ENST00000567277   ⟹   ENSP00000455670
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,288,077 - 50,310,529 (+)Ensembl
Ensembl Acc Id: ENST00000568731
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,300,820 - 50,301,964 (+)Ensembl
Ensembl Acc Id: ENST00000568930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,313,104 - 50,315,738 (+)Ensembl
Ensembl Acc Id: ENST00000568933
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,266,564 - 50,287,934 (+)Ensembl
Ensembl Acc Id: ENST00000569265   ⟹   ENSP00000460018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,279,527 - 50,288,230 (+)Ensembl
Ensembl Acc Id: ENST00000570187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,304,394 - 50,309,198 (+)Ensembl
Ensembl Acc Id: ENST00000673801   ⟹   ENSP00000501053
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,266,551 - 50,318,135 (+)Ensembl
Ensembl Acc Id: ENST00000673973   ⟹   ENSP00000501223
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1650,274,157 - 50,317,903 (+)Ensembl
RefSeq Acc Id: NM_001114   ⟹   NP_001105
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
GRCh371650,278,830 - 50,352,046 (+)NCBI
Build 361648,879,324 - 48,909,544 (+)NCBI Archive
HuRef1636,188,133 - 36,239,957 (+)NCBI
CHM1_11651,728,925 - 51,759,145 (+)NCBI
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001286057   ⟹   NP_001272986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,310,529 (+)NCBI
HuRef1636,188,133 - 36,239,957 (+)NCBI
CHM1_11651,707,544 - 51,751,543 (+)NCBI
T2T-CHM13v2.01656,064,385 - 56,108,360 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522835   ⟹   XP_011521137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522836   ⟹   XP_011521138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522837   ⟹   XP_011521139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522838   ⟹   XP_011521140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,279,522 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522839   ⟹   XP_011521141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522840   ⟹   XP_011521142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011522842   ⟹   XP_011521144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022896   ⟹   XP_016878385
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017022898   ⟹   XP_016878387
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,310,529 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047433550   ⟹   XP_047289506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433551   ⟹   XP_047289507
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,244,699 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433552   ⟹   XP_047289508
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433553   ⟹   XP_047289509
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,279,522 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433554   ⟹   XP_047289510
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433555   ⟹   XP_047289511
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433556   ⟹   XP_047289512
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433557   ⟹   XP_047289513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433558   ⟹   XP_047289514
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433559   ⟹   XP_047289515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433560   ⟹   XP_047289516
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,244,699 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433561   ⟹   XP_047289517
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,270,748 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433562   ⟹   XP_047289518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,279,522 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433563   ⟹   XP_047289519
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433564   ⟹   XP_047289520
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,318,135 (+)NCBI
RefSeq Acc Id: XM_047433565   ⟹   XP_047289521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,310,529 (+)NCBI
RefSeq Acc Id: XM_047433566   ⟹   XP_047289522
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,310,529 (+)NCBI
RefSeq Acc Id: XM_047433567   ⟹   XP_047289523
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,310,529 (+)NCBI
RefSeq Acc Id: XM_047433568   ⟹   XP_047289524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,310,529 (+)NCBI
RefSeq Acc Id: XM_047433569   ⟹   XP_047289525
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,266,551 - 50,310,529 (+)NCBI
RefSeq Acc Id: XM_047433570   ⟹   XP_047289526
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,311,781 (+)NCBI
RefSeq Acc Id: XM_047433571   ⟹   XP_047289527
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,274,131 - 50,308,786 (+)NCBI
RefSeq Acc Id: XM_054379478   ⟹   XP_054235453
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379479   ⟹   XP_054235454
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379480   ⟹   XP_054235455
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,946 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379481   ⟹   XP_054235456
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379482   ⟹   XP_054235457
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,962 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379483   ⟹   XP_054235458
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379484   ⟹   XP_054235459
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,043,927 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379485   ⟹   XP_054235460
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,077,033 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379486   ⟹   XP_054235461
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,042,561 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379487   ⟹   XP_054235462
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,043,945 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379488   ⟹   XP_054235463
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,946 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379489   ⟹   XP_054235464
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379490   ⟹   XP_054235465
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379491   ⟹   XP_054235466
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,962 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379492   ⟹   XP_054235467
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379493   ⟹   XP_054235468
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,042,542 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379494   ⟹   XP_054235469
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,068,582 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379495   ⟹   XP_054235470
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,077,039 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379496   ⟹   XP_054235471
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,043,903 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379497   ⟹   XP_054235472
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,043,949 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379498   ⟹   XP_054235473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,964 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379499   ⟹   XP_054235474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,947 - 56,115,969 (+)NCBI
RefSeq Acc Id: XM_054379500   ⟹   XP_054235475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,886 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379501   ⟹   XP_054235476
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379502   ⟹   XP_054235477
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,962 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379503   ⟹   XP_054235478
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379504   ⟹   XP_054235479
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,064,385 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379505   ⟹   XP_054235480
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,043,938 - 56,108,360 (+)NCBI
RefSeq Acc Id: XM_054379506   ⟹   XP_054235481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,945 - 56,109,612 (+)NCBI
RefSeq Acc Id: XM_054379507   ⟹   XP_054235482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01656,071,945 - 56,106,617 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001105 (Get FASTA)   NCBI Sequence Viewer  
  NP_001272986 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521137 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521138 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521139 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521140 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521141 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521142 (Get FASTA)   NCBI Sequence Viewer  
  XP_011521144 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878385 (Get FASTA)   NCBI Sequence Viewer  
  XP_016878387 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289506 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289507 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289508 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289509 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289510 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289511 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289512 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289513 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289514 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289515 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289516 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289517 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289518 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289519 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289520 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289521 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289522 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289523 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289524 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289525 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289526 (Get FASTA)   NCBI Sequence Viewer  
  XP_047289527 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235453 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235454 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235455 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235456 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235457 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235458 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235459 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235460 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235461 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235462 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235463 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235464 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235465 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235466 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235467 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235468 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235469 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235470 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235471 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235472 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235473 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235474 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235475 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235476 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235477 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235478 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235479 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235480 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235481 (Get FASTA)   NCBI Sequence Viewer  
  XP_054235482 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH39891 (Get FASTA)   NCBI Sequence Viewer  
  AAI26272 (Get FASTA)   NCBI Sequence Viewer  
  BAA05021 (Get FASTA)   NCBI Sequence Viewer  
  BAG52752 (Get FASTA)   NCBI Sequence Viewer  
  EAW82753 (Get FASTA)   NCBI Sequence Viewer  
  EAW82754 (Get FASTA)   NCBI Sequence Viewer  
  EAW82755 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000254235
  ENSP00000254235.3
  ENSP00000378187
  ENSP00000378187.2
  ENSP00000457409
  ENSP00000501053
  ENSP00000501053.1
GenBank Protein P51828 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001105   ⟸   NM_001114
- Peptide Label: isoform 1
- UniProtKB: A0AVA6 (UniProtKB/Swiss-Prot),   P51828 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001272986   ⟸   NM_001286057
- Peptide Label: isoform 2
- UniProtKB: B3KSJ0 (UniProtKB/TrEMBL),   F5H4D1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011521139   ⟸   XM_011522837
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521142   ⟸   XM_011522840
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521138   ⟸   XM_011522836
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521144   ⟸   XM_011522842
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521137   ⟸   XM_011522835
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521141   ⟸   XM_011522839
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_011521140   ⟸   XM_011522838
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_016878387   ⟸   XM_017022898
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016878385   ⟸   XM_017022896
- Peptide Label: isoform X3
- Sequence:
Ensembl Acc Id: ENSP00000501223   ⟸   ENST00000673973
Ensembl Acc Id: ENSP00000501053   ⟸   ENST00000673801
Ensembl Acc Id: ENSP00000254235   ⟸   ENST00000254235
Ensembl Acc Id: ENSP00000437788   ⟸   ENST00000537579
Ensembl Acc Id: ENSP00000501222   ⟸   ENST00000564044
Ensembl Acc Id: ENSP00000460636   ⟸   ENST00000564965
Ensembl Acc Id: ENSP00000378187   ⟸   ENST00000394697
Ensembl Acc Id: ENSP00000457409   ⟸   ENST00000566433
Ensembl Acc Id: ENSP00000454301   ⟸   ENST00000566761
Ensembl Acc Id: ENSP00000455670   ⟸   ENST00000567277
Ensembl Acc Id: ENSP00000460018   ⟸   ENST00000569265
RefSeq Acc Id: XP_047289507   ⟸   XM_047433551
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047289516   ⟸   XM_047433560
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289508   ⟸   XM_047433552
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047289519   ⟸   XM_047433563
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289512   ⟸   XM_047433556
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289524   ⟸   XM_047433568
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289513   ⟸   XM_047433557
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289506   ⟸   XM_047433550
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047289515   ⟸   XM_047433559
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289511   ⟸   XM_047433555
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289523   ⟸   XM_047433567
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289525   ⟸   XM_047433569
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289517   ⟸   XM_047433561
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289514   ⟸   XM_047433558
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289510   ⟸   XM_047433554
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047289520   ⟸   XM_047433564
- Peptide Label: isoform X4
RefSeq Acc Id: XP_047289526   ⟸   XM_047433570
- Peptide Label: isoform X6
- UniProtKB: B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289522   ⟸   XM_047433566
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289521   ⟸   XM_047433565
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289527   ⟸   XM_047433571
- Peptide Label: isoform X7
- UniProtKB: B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047289509   ⟸   XM_047433553
- Peptide Label: isoform X1
RefSeq Acc Id: XP_047289518   ⟸   XM_047433562
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235468   ⟸   XM_054379493
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235461   ⟸   XM_054379486
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235471   ⟸   XM_054379496
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235459   ⟸   XM_054379484
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235480   ⟸   XM_054379505
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235462   ⟸   XM_054379487
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235472   ⟸   XM_054379497
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235456   ⟸   XM_054379481
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235465   ⟸   XM_054379490
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235453   ⟸   XM_054379478
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235458   ⟸   XM_054379483
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235467   ⟸   XM_054379492
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235454   ⟸   XM_054379479
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235464   ⟸   XM_054379489
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235478   ⟸   XM_054379503
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235476   ⟸   XM_054379501
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235479   ⟸   XM_054379504
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235469   ⟸   XM_054379494
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235475   ⟸   XM_054379500
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235481   ⟸   XM_054379506
- Peptide Label: isoform X6
- UniProtKB: B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235482   ⟸   XM_054379507
- Peptide Label: isoform X7
- UniProtKB: B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235455   ⟸   XM_054379480
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235463   ⟸   XM_054379488
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235474   ⟸   XM_054379499
- Peptide Label: isoform X4
RefSeq Acc Id: XP_054235457   ⟸   XM_054379482
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235466   ⟸   XM_054379491
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235477   ⟸   XM_054379502
- Peptide Label: isoform X5
- UniProtKB: F5H4D1 (UniProtKB/TrEMBL),   B3KSJ0 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235473   ⟸   XM_054379498
- Peptide Label: isoform X3
RefSeq Acc Id: XP_054235460   ⟸   XM_054379485
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054235470   ⟸   XM_054379495
- Peptide Label: isoform X2
- UniProtKB: P51828 (UniProtKB/Swiss-Prot),   A0AVA6 (UniProtKB/Swiss-Prot)
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P51828-F1-model_v2 AlphaFold P51828 1-1080 view protein structure

Promoters
RGD ID:7232185
Promoter ID:EPDNEW_H21838
Type:initiation region
Name:ADCY7_2
Description:adenylate cyclase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21839  EPDNEW_H21840  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,244,699 - 50,244,759EPDNEW
RGD ID:7232187
Promoter ID:EPDNEW_H21839
Type:initiation region
Name:ADCY7_1
Description:adenylate cyclase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21838  EPDNEW_H21840  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,246,170 - 50,246,230EPDNEW
RGD ID:7232193
Promoter ID:EPDNEW_H21840
Type:initiation region
Name:ADCY7_3
Description:adenylate cyclase 7
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21838  EPDNEW_H21839  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381650,287,942 - 50,288,002EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:238 AgrOrtholog
COSMIC ADCY7 COSMIC
Ensembl Genes ENSG00000121281 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000254235 ENTREZGENE
  ENST00000254235.7 UniProtKB/Swiss-Prot
  ENST00000394697 ENTREZGENE
  ENST00000394697.7 UniProtKB/Swiss-Prot
  ENST00000566433 ENTREZGENE
  ENST00000673801 ENTREZGENE
  ENST00000673801.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot
GTEx ENSG00000121281 GTEx
HGNC ID HGNC:238 ENTREZGENE
Human Proteome Map ADCY7 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot
  A/G_cyclase_CS UniProtKB/Swiss-Prot
  AC_N UniProtKB/Swiss-Prot
  Adcy UniProtKB/Swiss-Prot
  Adcy_conserved_dom UniProtKB/Swiss-Prot
  Nucleotide_cyclase UniProtKB/Swiss-Prot
KEGG Report hsa:113 UniProtKB/Swiss-Prot
NCBI Gene 113 ENTREZGENE
OMIM 600385 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot
  ADENYLATE CYCLASE TYPE 7 UniProtKB/Swiss-Prot
Pfam AC_N UniProtKB/Swiss-Prot
  DUF1053 UniProtKB/Swiss-Prot
  Guanylate_cyc UniProtKB/Swiss-Prot
PharmGKB PA28 PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot
SMART CYCc UniProtKB/Swiss-Prot
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot
UniProt A0A669KBF7_HUMAN UniProtKB/TrEMBL
  A0AVA6 ENTREZGENE
  ADCY7_HUMAN UniProtKB/Swiss-Prot
  B3KSJ0 ENTREZGENE, UniProtKB/TrEMBL
  F5H4D1 ENTREZGENE, UniProtKB/TrEMBL
  F5H699_HUMAN UniProtKB/TrEMBL
  H3BMA5_HUMAN UniProtKB/TrEMBL
  H3BQ93_HUMAN UniProtKB/TrEMBL
  I3L2Y1_HUMAN UniProtKB/TrEMBL
  I3L3Q5_HUMAN UniProtKB/TrEMBL
  P51828 ENTREZGENE
  Q86YI0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A0AVA6 UniProtKB/Swiss-Prot