ADCY8 (adenylate cyclase 8) - Rat Genome Database

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Gene: ADCY8 (adenylate cyclase 8) Homo sapiens
Analyze
Symbol: ADCY8
Name: adenylate cyclase 8
RGD ID: 733733
HGNC Page HGNC:239
Description: Predicted to enable several functions, including calcium- and calmodulin-responsive adenylate cyclase activity; calmodulin binding activity; and protein dimerization activity. Predicted to be involved in several processes, including G protein-coupled receptor signaling pathway; activation of protein kinase A activity; and regulation of synaptic plasticity. Predicted to act upstream of or within long-term memory. Predicted to be located in several cellular components, including basolateral plasma membrane; clathrin-coated pit; and neuronal cell body membrane. Predicted to be active in several cellular components, including Schaffer collateral - CA1 synapse; hippocampal mossy fiber to CA3 synapse; and presynaptic membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC8; ADCY3; adenylate cyclase 8 (brain); adenylate cyclase type 8; adenylate cyclase type VIII; adenylyl cyclase 8; adenylyl cyclase-8, brain; ATP pyrophosphate-lyase 8; ca(2+)/calmodulin-activated adenylyl cyclase; epididymis secretory sperm binding protein Li 172mP; HBAC1; HEL-S-172mP
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
GRCh388130,780,301 - 131,040,909 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8130,780,301 - 131,040,909 (-)EnsemblGRCh38hg38GRCh38
GRCh378131,792,547 - 132,053,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,861,729 - 132,123,854 (-)NCBINCBI36Build 36hg18NCBI36
Build 348131,861,728 - 132,123,854NCBI
Celera8127,969,937 - 128,230,969 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8127,112,105 - 127,216,470 (-)NCBIHuRef
HuRef8127,235,506 - 127,372,263 (-)NCBIHuRef
CHM1_18131,833,662 - 132,093,872 (-)NCBICHM1_1
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
activation of protein kinase A activity  (ISS)
adenylate cyclase-activating G protein-coupled receptor signaling pathway  (IBA,IEA)
cAMP biosynthetic process  (IBA,IEA,ISO)
cAMP/PKA signal transduction  (ISO)
cellular response to calcium ion  (ISO,ISS)
cellular response to forskolin  (ISS)
cellular response to glucagon stimulus  (IEA,ISS)
cellular response to glucose stimulus  (ISS)
cellular response to morphine  (IEA,ISS)
cyclic nucleotide biosynthetic process  (IEA)
G protein-coupled opioid receptor signaling pathway  (ISS)
glucose homeostasis  (IEA,ISS)
glucose mediated signaling pathway  (IEA,ISS)
intracellular signal transduction  (IEA)
learning or memory  (TAS)
locomotory behavior  (IEA,ISS)
long-term memory  (IEA)
memory  (IEA,ISS)
modulation of chemical synaptic transmission  (IEA)
neuroinflammatory response  (IEA,ISS)
positive regulation of CREB transcription factor activity  (ISS)
positive regulation of cytosolic calcium ion concentration  (ISS)
positive regulation of insulin secretion  (IEA)
positive regulation of insulin secretion involved in cellular response to glucose stimulus  (IEA,ISS)
positive regulation of long-term synaptic depression  (IEA,ISS)
positive regulation of long-term synaptic potentiation  (IEA,ISS)
positive regulation of synaptic plasticity  (IEA,ISS)
protein complex oligomerization  (ISS)
protein homooligomerization  (ISS)
regulation of cellular response to stress  (IEA,ISS)
regulation of cytosolic calcium ion concentration  (IEA,ISS)
regulation of insulin secretion  (TAS)
signal transduction  (TAS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. KEGG: Kyoto Encyclopedia of Genes and Genomes KEGG
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:1427768   PMID:1715695   PMID:2165385   PMID:7937899   PMID:8076676   PMID:8163524   PMID:8476432   PMID:8663304   PMID:9417641   PMID:10075700   PMID:10089566   PMID:10807185  
PMID:10808179   PMID:11076863   PMID:11299302   PMID:11457491   PMID:11884542   PMID:12477932   PMID:12503609   PMID:12626323   PMID:12890691   PMID:14993377   PMID:16258073   PMID:16613843  
PMID:17110338   PMID:17586501   PMID:18163389   PMID:18480272   PMID:19029295   PMID:19156168   PMID:19171672   PMID:19490893   PMID:19691954   PMID:20379614   PMID:20410303   PMID:20675917  
PMID:20677014   PMID:21046358   PMID:21116278   PMID:21873635   PMID:22494970   PMID:23200849   PMID:23278386   PMID:24677629   PMID:24709693   PMID:25403481   PMID:26480920   PMID:27651839  
PMID:30746562   PMID:32707033   PMID:33961781  


Genomics

Comparative Map Data
ADCY8
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388130,780,301 - 131,040,909 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8130,780,301 - 131,040,909 (-)EnsemblGRCh38hg38GRCh38
GRCh378131,792,547 - 132,053,155 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368131,861,729 - 132,123,854 (-)NCBINCBI36Build 36hg18NCBI36
Build 348131,861,728 - 132,123,854NCBI
Celera8127,969,937 - 128,230,969 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8127,112,105 - 127,216,470 (-)NCBIHuRef
HuRef8127,235,506 - 127,372,263 (-)NCBIHuRef
CHM1_18131,833,662 - 132,093,872 (-)NCBICHM1_1
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBIT2T-CHM13v2.0
Adcy8
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391564,570,884 - 64,794,145 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1564,568,933 - 64,794,145 (-)EnsemblGRCm39 Ensembl
GRCm381564,699,035 - 64,922,296 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1564,697,084 - 64,922,296 (-)EnsemblGRCm38mm10GRCm38
MGSCv371564,530,597 - 64,753,858 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361564,528,707 - 64,751,833 (-)NCBIMGSCv36mm8
Celera1566,221,302 - 66,448,865 (-)NCBICelera
Cytogenetic Map15D1NCBI
cM Map1529.03NCBI
Adcy8
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8798,306,434 - 98,555,687 (-)NCBIGRCr8
mRatBN7.2796,417,310 - 96,665,911 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl796,417,324 - 96,665,911 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx798,176,363 - 98,425,655 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07100,377,999 - 100,627,320 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07100,299,283 - 100,548,591 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07105,353,883 - 105,593,372 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7105,353,913 - 105,592,804 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07105,301,826 - 105,541,014 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47101,957,807 - 102,210,346 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17101,992,036 - 102,244,576 (-)NCBI
Celera792,997,741 - 93,245,305 (-)NCBICelera
Cytogenetic Map7q33NCBI
Adcy8
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554615,497,628 - 5,725,574 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554615,497,708 - 5,725,574 (-)NCBIChiLan1.0ChiLan1.0
ADCY8
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27148,150,875 - 148,412,746 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18123,667,241 - 123,929,157 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08127,418,407 - 127,681,217 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18130,399,223 - 130,661,073 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8130,398,288 - 130,661,073 (-)Ensemblpanpan1.1panPan2
ADCY8
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11327,723,530 - 27,937,821 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1327,723,530 - 27,937,734 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1327,690,009 - 27,910,417 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01328,068,919 - 28,289,497 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1328,068,921 - 28,289,497 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11327,784,095 - 28,006,367 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01327,904,105 - 28,118,318 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01328,205,442 - 28,426,573 (-)NCBIUU_Cfam_GSD_1.0
Adcy8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530310,405,531 - 10,621,769 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647017,831,639 - 18,047,868 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647017,831,644 - 18,047,868 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ADCY8
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl49,645,659 - 9,866,550 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.149,645,398 - 9,867,065 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.249,777,859 - 9,968,857 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ADCY8
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18125,269,396 - 125,535,806 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8125,269,736 - 125,533,015 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603914,582,569 - 14,845,878 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Adcy8
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473524,891,583 - 25,149,900 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473524,891,803 - 25,149,817 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ADCY8
104 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23		 pathogenic
NM_001115.2(ADCY8):c.3488G>A (p.Gly1163Glu) single nucleotide variant Malignant melanoma [RCV000068148] Chr8:130780658 [GRCh38]
Chr8:131792904 [GRCh37]
Chr8:131862086 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.2595G>A (p.Met865Ile) single nucleotide variant Malignant melanoma [RCV000068149] Chr8:130836357 [GRCh38]
Chr8:131848603 [GRCh37]
Chr8:131917785 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.2391C>T (p.Phe797=) single nucleotide variant Malignant melanoma [RCV000068150] Chr8:130849623 [GRCh38]
Chr8:131861869 [GRCh37]
Chr8:131931051 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.2333T>A (p.Ile778Asn) single nucleotide variant Malignant melanoma [RCV000068151] Chr8:130849681 [GRCh38]
Chr8:131861927 [GRCh37]
Chr8:131931109 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.1996G>A (p.Glu666Lys) single nucleotide variant Malignant melanoma [RCV000068152] Chr8:130884677 [GRCh38]
Chr8:131896923 [GRCh37]
Chr8:131966105 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.1300G>A (p.Glu434Lys) single nucleotide variant Malignant melanoma [RCV000068153] Chr8:130943404 [GRCh38]
Chr8:131955650 [GRCh37]
Chr8:132024832 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.1158G>A (p.Met386Ile) single nucleotide variant Malignant melanoma [RCV000068154] Chr8:130951951 [GRCh38]
Chr8:131964197 [GRCh37]
Chr8:132033379 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.993G>A (p.Met331Ile) single nucleotide variant Malignant melanoma [RCV000068155] Chr8:130990510 [GRCh38]
Chr8:132002756 [GRCh37]
Chr8:132071938 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.771C>T (p.Ile257=) single nucleotide variant Malignant melanoma [RCV000068156] Chr8:131039563 [GRCh38]
Chr8:132051809 [GRCh37]
Chr8:132120991 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.3537C>T (p.Phe1179=) single nucleotide variant Malignant melanoma [RCV000061755] Chr8:130780609 [GRCh38]
Chr8:131792855 [GRCh37]
Chr8:131862037 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.2382G>A (p.Leu794=) single nucleotide variant Malignant melanoma [RCV000061756] Chr8:130849632 [GRCh38]
Chr8:131861878 [GRCh37]
Chr8:131931060 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.2041G>A (p.Asp681Asn) single nucleotide variant Malignant melanoma [RCV000061757] Chr8:130884632 [GRCh38]
Chr8:131896878 [GRCh37]
Chr8:131966060 [NCBI36]
Chr8:8q24.22		 not provided
NM_001115.2(ADCY8):c.961-9428T>A single nucleotide variant Lung cancer [RCV000107041] Chr8:130999970 [GRCh38]
Chr8:132012216 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.2(ADCY8):c.960+23203T>C single nucleotide variant Lung cancer [RCV000107042] Chr8:131016171 [GRCh38]
Chr8:132028417 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:132005210-133698781)x3 copy number gain See cases [RCV000515570] Chr8:132005210..133698781 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:128295596-133200773)x1 copy number loss See cases [RCV000448960] Chr8:128295596..133200773 [GRCh37]
Chr8:8q24.21-24.22		 likely pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.22(chr8:131025817-133947836)x3 copy number gain See cases [RCV000511900] Chr8:131025817..133947836 [GRCh37]
Chr8:8q24.21-24.22		 uncertain significance
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
NM_001115.3(ADCY8):c.3456G>C (p.Glu1152Asp) single nucleotide variant not specified [RCV004294044] Chr8:130780690 [GRCh38]
Chr8:131792936 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1636C>T (p.Pro546Ser) single nucleotide variant not specified [RCV004316032] Chr8:130909712 [GRCh38]
Chr8:131921958 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:131932152-133020830)x3 copy number gain See cases [RCV000512493] Chr8:131932152..133020830 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:131932152-133020677)x3 copy number gain not provided [RCV000683003] Chr8:131932152..133020677 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:131847917-131852693)x0 copy number loss not provided [RCV000747849] Chr8:131847917..131852693 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.22(chr8:131851268-131852693)x0 copy number loss not provided [RCV000747850] Chr8:131851268..131852693 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.22(chr8:131851268-131854234)x0 copy number loss not provided [RCV000747851] Chr8:131851268..131854234 [GRCh37]
Chr8:8q24.22		 benign
NM_001115.3(ADCY8):c.2976G>A (p.Ala992=) single nucleotide variant not provided [RCV000967101] Chr8:130800510 [GRCh38]
Chr8:131812756 [GRCh37]
Chr8:8q24.22		 benign
NM_001115.3(ADCY8):c.2949G>A (p.Val983=) single nucleotide variant not provided [RCV000925791] Chr8:130800537 [GRCh38]
Chr8:131812783 [GRCh37]
Chr8:8q24.22		 likely benign
NM_001115.3(ADCY8):c.945C>T (p.Val315=) single nucleotide variant not provided [RCV000967102] Chr8:131039389 [GRCh38]
Chr8:132051635 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.22(chr8:131932469-133020848)x3 copy number gain not provided [RCV000849908] Chr8:131932469..133020848 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_001115.3(ADCY8):c.1551C>T (p.Cys517=) single nucleotide variant not provided [RCV000897910] Chr8:130909797 [GRCh38]
Chr8:131922043 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3680G>A (p.Arg1227Gln) single nucleotide variant not specified [RCV004331886] Chr8:130780466 [GRCh38]
Chr8:131792712 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.691G>C (p.Val231Leu) single nucleotide variant not specified [RCV004318961] Chr8:131039643 [GRCh38]
Chr8:132051889 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3160G>A (p.Glu1054Lys) single nucleotide variant not specified [RCV004303144] Chr8:130783799 [GRCh38]
Chr8:131796045 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.436G>T (p.Gly146Cys) single nucleotide variant not specified [RCV004316677] Chr8:131039898 [GRCh38]
Chr8:132052144 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3612T>C (p.Asn1204=) single nucleotide variant not provided [RCV000885382] Chr8:130780534 [GRCh38]
Chr8:131792780 [GRCh37]
Chr8:8q24.22		 benign
NM_001115.3(ADCY8):c.3582G>A (p.Ala1194=) single nucleotide variant not provided [RCV000885383] Chr8:130780564 [GRCh38]
Chr8:131792810 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.22(chr8:131902859-132863217)x3 copy number gain not provided [RCV001006148] Chr8:131902859..132863217 [GRCh37]
Chr8:8q24.22		 likely benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 copy number gain not provided [RCV001795855] Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
NM_001115.3(ADCY8):c.2164G>A (p.Val722Ile) single nucleotide variant not specified [RCV004329126] Chr8:130867892 [GRCh38]
Chr8:131880138 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3449G>A (p.Arg1150Gln) single nucleotide variant not specified [RCV004112632] Chr8:130780697 [GRCh38]
Chr8:131792943 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q23.3-24.22(chr8:112234557-133668379)x1 copy number loss not provided [RCV002474553] Chr8:112234557..133668379 [GRCh37]
Chr8:8q23.3-24.22		 pathogenic
NM_001115.3(ADCY8):c.215C>A (p.Ala72Glu) single nucleotide variant not specified [RCV004077193] Chr8:131040119 [GRCh38]
Chr8:132052365 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.163C>T (p.Arg55Trp) single nucleotide variant not specified [RCV004151118] Chr8:131040171 [GRCh38]
Chr8:132052417 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2881C>T (p.Arg961Cys) single nucleotide variant not specified [RCV004238464] Chr8:130814101 [GRCh38]
Chr8:131826347 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.275A>T (p.Tyr92Phe) single nucleotide variant not specified [RCV004239201] Chr8:131040059 [GRCh38]
Chr8:132052305 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2435C>T (p.Ser812Leu) single nucleotide variant not specified [RCV004136283] Chr8:130847491 [GRCh38]
Chr8:131859737 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.346G>T (p.Gly116Cys) single nucleotide variant not specified [RCV004157938] Chr8:131039988 [GRCh38]
Chr8:132052234 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3382G>A (p.Gly1128Ser) single nucleotide variant not specified [RCV004106249] Chr8:130780764 [GRCh38]
Chr8:131793010 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.7C>T (p.Leu3Phe) single nucleotide variant not specified [RCV004120092] Chr8:131040327 [GRCh38]
Chr8:132052573 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1177G>A (p.Val393Met) single nucleotide variant not specified [RCV004161950] Chr8:130951932 [GRCh38]
Chr8:131964178 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3158G>A (p.Cys1053Tyr) single nucleotide variant not specified [RCV004135893] Chr8:130783801 [GRCh38]
Chr8:131796047 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3682C>T (p.Arg1228Trp) single nucleotide variant not specified [RCV004229284] Chr8:130780464 [GRCh38]
Chr8:131792710 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3581C>T (p.Ala1194Val) single nucleotide variant not specified [RCV004120319] Chr8:130780565 [GRCh38]
Chr8:131792811 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.559G>T (p.Val187Leu) single nucleotide variant not specified [RCV004085425] Chr8:131039775 [GRCh38]
Chr8:132052021 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1343G>A (p.Arg448Gln) single nucleotide variant not specified [RCV004085974] Chr8:130943361 [GRCh38]
Chr8:131955607 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3532C>G (p.Pro1178Ala) single nucleotide variant not specified [RCV004234048] Chr8:130780614 [GRCh38]
Chr8:131792860 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.877A>T (p.Ile293Phe) single nucleotide variant not specified [RCV004080712] Chr8:131039457 [GRCh38]
Chr8:132051703 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.781G>A (p.Gly261Ser) single nucleotide variant not specified [RCV004231822] Chr8:131039553 [GRCh38]
Chr8:132051799 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.296G>A (p.Arg99Gln) single nucleotide variant not specified [RCV004210431] Chr8:131040038 [GRCh38]
Chr8:132052284 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.194C>G (p.Ser65Trp) single nucleotide variant not specified [RCV004166621] Chr8:131040140 [GRCh38]
Chr8:132052386 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2082G>A (p.Met694Ile) single nucleotide variant not specified [RCV004228282] Chr8:130884591 [GRCh38]
Chr8:131896837 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3533C>A (p.Pro1178Gln) single nucleotide variant not specified [RCV004185986] Chr8:130780613 [GRCh38]
Chr8:131792859 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3376G>T (p.Val1126Phe) single nucleotide variant not specified [RCV004173641] Chr8:130780770 [GRCh38]
Chr8:131793016 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.329C>A (p.Pro110Gln) single nucleotide variant not specified [RCV004210254] Chr8:131040005 [GRCh38]
Chr8:132052251 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1664C>T (p.Thr555Met) single nucleotide variant not specified [RCV004220302] Chr8:130904019 [GRCh38]
Chr8:131916265 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3205G>A (p.Ala1069Thr) single nucleotide variant not specified [RCV004080583] Chr8:130783754 [GRCh38]
Chr8:131796000 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.79G>C (p.Gly27Arg) single nucleotide variant not specified [RCV004317769] Chr8:131040255 [GRCh38]
Chr8:132052501 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NM_001115.3(ADCY8):c.256G>T (p.Asp86Tyr) single nucleotide variant not specified [RCV004311213] Chr8:131040078 [GRCh38]
Chr8:132052324 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.130C>A (p.His44Asn) single nucleotide variant not specified [RCV004267480] Chr8:131040204 [GRCh38]
Chr8:132052450 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1132C>T (p.Leu378Phe) single nucleotide variant not specified [RCV004270708] Chr8:130951977 [GRCh38]
Chr8:131964223 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) copy number gain Distal trisomy 8q [RCV003325441] Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
NM_001115.3(ADCY8):c.260C>T (p.Ser87Leu) single nucleotide variant not specified [RCV004346374] Chr8:131040074 [GRCh38]
Chr8:132052320 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.73G>A (p.Gly25Ser) single nucleotide variant not specified [RCV004335105] Chr8:131040261 [GRCh38]
Chr8:132052507 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1682G>A (p.Gly561Asp) single nucleotide variant not specified [RCV004352416] Chr8:130904001 [GRCh38]
Chr8:131916247 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.88G>T (p.Ala30Ser) single nucleotide variant not specified [RCV004337559] Chr8:131040246 [GRCh38]
Chr8:132052492 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.869C>T (p.Thr290Ile) single nucleotide variant not specified [RCV004345767] Chr8:131039465 [GRCh38]
Chr8:132051711 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.879C>G (p.Ile293Met) single nucleotide variant not specified [RCV004348866] Chr8:131039455 [GRCh38]
Chr8:132051701 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1 copy number loss not provided [RCV003483040] Chr8:131958531..136738670 [GRCh37]
Chr8:8q24.22-24.23		 uncertain significance
GRCh37/hg19 8q24.11-24.22(chr8:118071721-132774256)x1 copy number loss not specified [RCV003986782] Chr8:118071721..132774256 [GRCh37]
Chr8:8q24.11-24.22		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
NM_001115.3(ADCY8):c.1115G>A (p.Arg372Gln) single nucleotide variant not specified [RCV004373604] Chr8:130951994 [GRCh38]
Chr8:131964240 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1139G>A (p.Arg380Gln) single nucleotide variant not specified [RCV004373607] Chr8:130951970 [GRCh38]
Chr8:131964216 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.211C>G (p.Pro71Ala) single nucleotide variant not specified [RCV004373633] Chr8:131040123 [GRCh38]
Chr8:132052369 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.344G>A (p.Ser115Asn) single nucleotide variant not specified [RCV004373679] Chr8:131039990 [GRCh38]
Chr8:132052236 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3580G>A (p.Ala1194Thr) single nucleotide variant not specified [RCV004373692] Chr8:130780566 [GRCh38]
Chr8:131792812 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.515G>T (p.Arg172Leu) single nucleotide variant not specified [RCV004373699] Chr8:131039819 [GRCh38]
Chr8:132052065 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1024T>C (p.Ser342Pro) single nucleotide variant not specified [RCV004373602] Chr8:130990479 [GRCh38]
Chr8:132002725 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1681G>A (p.Gly561Ser) single nucleotide variant not specified [RCV004373620] Chr8:130904002 [GRCh38]
Chr8:131916248 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2078T>C (p.Leu693Pro) single nucleotide variant not specified [RCV004373627] Chr8:130884595 [GRCh38]
Chr8:131896841 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3181T>C (p.Cys1061Arg) single nucleotide variant not specified [RCV004373665] Chr8:130783778 [GRCh38]
Chr8:131796024 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3472A>T (p.Ile1158Phe) single nucleotide variant not specified [RCV004373688] Chr8:130780674 [GRCh38]
Chr8:131792920 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_001115.3(ADCY8):c.1189C>T (p.His397Tyr) single nucleotide variant not specified [RCV004613500] Chr8:130951920 [GRCh38]
Chr8:131964166 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1172C>T (p.Thr391Ile) single nucleotide variant not specified [RCV004613511] Chr8:130951937 [GRCh38]
Chr8:131964183 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.986T>C (p.Met329Thr) single nucleotide variant not specified [RCV004613520] Chr8:130990517 [GRCh38]
Chr8:132002763 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2384T>C (p.Ile795Thr) single nucleotide variant not specified [RCV004613541] Chr8:130849630 [GRCh38]
Chr8:131861876 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3429G>C (p.Gln1143His) single nucleotide variant not specified [RCV004613530] Chr8:130780717 [GRCh38]
Chr8:131792963 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.205T>A (p.Ser69Thr) single nucleotide variant not specified [RCV004613559] Chr8:131040129 [GRCh38]
Chr8:132052375 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.87C>G (p.Ser29Arg) single nucleotide variant not specified [RCV004613490] Chr8:131040247 [GRCh38]
Chr8:132052493 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3064C>T (p.Leu1022Phe) single nucleotide variant not specified [RCV004613550] Chr8:130785472 [GRCh38]
Chr8:131797718 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q23.2-24.3(chr8:111432348-146295771)x3 copy number gain not provided [RCV004819306] Chr8:111432348..146295771 [GRCh37]
Chr8:8q23.2-24.3		 pathogenic
NM_001115.3(ADCY8):c.611C>G (p.Ala204Gly) single nucleotide variant not specified [RCV004897505] Chr8:131039723 [GRCh38]
Chr8:132051969 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1438C>T (p.His480Tyr) single nucleotide variant not specified [RCV004897513] Chr8:130937116 [GRCh38]
Chr8:131949362 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.346G>A (p.Gly116Ser) single nucleotide variant not specified [RCV004897474] Chr8:131039988 [GRCh38]
Chr8:132052234 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.74G>A (p.Gly25Asp) single nucleotide variant not specified [RCV004897487] Chr8:131040260 [GRCh38]
Chr8:132052506 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2026G>A (p.Asp676Asn) single nucleotide variant not specified [RCV004897488] Chr8:130884647 [GRCh38]
Chr8:131896893 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.403G>T (p.Ala135Ser) single nucleotide variant not specified [RCV004897489] Chr8:131039931 [GRCh38]
Chr8:132052177 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.627C>A (p.Asp209Glu) single nucleotide variant not specified [RCV004897490] Chr8:131039707 [GRCh38]
Chr8:132051953 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.157G>C (p.Gly53Arg) single nucleotide variant not specified [RCV004897491] Chr8:131040177 [GRCh38]
Chr8:132052423 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2906A>C (p.Asp969Ala) single nucleotide variant not specified [RCV004897492] Chr8:130814076 [GRCh38]
Chr8:131826322 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1343G>C (p.Arg448Pro) single nucleotide variant not specified [RCV004897493] Chr8:130943361 [GRCh38]
Chr8:131955607 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1306G>C (p.Val436Leu) single nucleotide variant not specified [RCV004897494] Chr8:130943398 [GRCh38]
Chr8:131955644 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1894A>G (p.Ile632Val) single nucleotide variant not specified [RCV004897495] Chr8:130903789 [GRCh38]
Chr8:131916035 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.1856C>T (p.Thr619Ile) single nucleotide variant not specified [RCV004897496] Chr8:130903827 [GRCh38]
Chr8:131916073 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2533G>A (p.Val845Met) single nucleotide variant not specified [RCV004897497] Chr8:130836419 [GRCh38]
Chr8:131848665 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.2516C>T (p.Thr839Met) single nucleotide variant not specified [RCV004897498] Chr8:130836436 [GRCh38]
Chr8:131848682 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.869C>G (p.Thr290Ser) single nucleotide variant not specified [RCV004897499] Chr8:131039465 [GRCh38]
Chr8:132051711 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.3164A>T (p.Asp1055Val) single nucleotide variant not specified [RCV004897473] Chr8:130783795 [GRCh38]
Chr8:131796041 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_001115.3(ADCY8):c.931C>T (p.Pro311Ser) single nucleotide variant not specified [RCV004897523] Chr8:131039403 [GRCh38]
Chr8:132051649 [GRCh37]
Chr8:8q24.22		 uncertain significance
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:167
Count of miRNA genes:152
Interacting mature miRNAs:157
Transcripts:ENST00000286355, ENST00000377928, ENST00000522949
Prediction methods: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
406950529GWAS599505_Hpost-traumatic stress disorder QTL GWAS599505 (human)0.0000006post-traumatic stress disorder8130795923130795924Human
597146375GWAS1242449_HCOVID-19 QTL GWAS1242449 (human)1e-15COVID-198130807962130807963Human
597116149GWAS1212223_Hclostridium difficile infection QTL GWAS1212223 (human)0.000003clostridium difficile infection8131011356131011357Human
597050466GWAS1146540_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146540 (human)0.0000002Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)8130909710130909711Human
597023746GWAS1119820_Hbreast carcinoma QTL GWAS1119820 (human)0.0000008mammary gland integrity trait (VT:0010552)8130991174130991175Human
597050558GWAS1146632_HDuchenne muscular dystrophy, disease progression measurement QTL GWAS1146632 (human)0.0000003Duchenne muscular dystrophy, disease progression measurementdisease progression measurement (CMO:0001110)8130909710130909711Human
597321378GWAS1417452_Heducational attainment QTL GWAS1417452 (human)7e-11educational attainment8130998094130998095Human
597305718GWAS1401792_Hvaginal microbiome measurement QTL GWAS1401792 (human)0.0000007vaginal microbiome measurement8130804050130804051Human
597078169GWAS1174243_Hmaximum cigarettes per day measurement QTL GWAS1174243 (human)0.000003maximum cigarettes per day measurement8130797225130797226Human

Markers in Region
D8S1765  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,015,406 - 132,015,532UniSTSGRCh37
Build 368132,084,588 - 132,084,714RGDNCBI36
Celera8128,193,527 - 128,193,663RGD
Cytogenetic Map8q24UniSTS
HuRef8127,334,827 - 127,334,963UniSTS
Marshfield Genetic Map8144.36UniSTS
Marshfield Genetic Map8144.36RGD
Genethon Genetic Map8143.2UniSTS
deCODE Assembly Map8141.09UniSTS
SHGC-36821  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,792,629 - 131,792,705UniSTSGRCh37
Build 368131,861,811 - 131,861,887RGDNCBI36
Celera8127,970,021 - 127,970,097RGD
Cytogenetic Map8q24UniSTS
HuRef8127,112,191 - 127,112,267UniSTS
GeneMap99-G3 RH Map84071.0UniSTS
RH122757  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,965,996 - 131,966,309UniSTSGRCh37
Build 368132,035,178 - 132,035,491RGDNCBI36
Celera8128,144,087 - 128,144,400RGD
Cytogenetic Map8q24UniSTS
HuRef8127,285,467 - 127,285,780UniSTS
TNG Radiation Hybrid Map863181.0UniSTS
G59968  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,958,280 - 131,958,393UniSTSGRCh37
Build 368132,027,462 - 132,027,575RGDNCBI36
Celera8128,136,325 - 128,136,438RGD
Cytogenetic Map8q24UniSTS
HuRef8127,277,751 - 127,277,864UniSTS
TNG Radiation Hybrid Map863177.0UniSTS
SHGC-147478  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,014,791 - 132,015,129UniSTSGRCh37
Build 368132,083,973 - 132,084,311RGDNCBI36
Celera8128,192,912 - 128,193,250RGD
Cytogenetic Map8q24UniSTS
HuRef8127,334,212 - 127,334,550UniSTS
TNG Radiation Hybrid Map863189.0UniSTS
SHGC-148407  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,044,491 - 132,044,835UniSTSGRCh37
Build 368132,113,673 - 132,114,017RGDNCBI36
Celera8128,222,625 - 128,222,969RGD
Cytogenetic Map8q24UniSTS
HuRef8127,363,917 - 127,364,261UniSTS
TNG Radiation Hybrid Map863208.0UniSTS
SHGC-85246  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378132,011,543 - 132,011,844UniSTSGRCh37
Build 368132,080,725 - 132,081,026RGDNCBI36
Celera8128,189,664 - 128,189,965RGD
Cytogenetic Map8q24UniSTS
HuRef8127,330,964 - 127,331,265UniSTS
TNG Radiation Hybrid Map863189.0UniSTS
G54644  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378131,958,202 - 131,958,402UniSTSGRCh37
Celera8128,136,247 - 128,136,447UniSTS
Cytogenetic Map8q24UniSTS
HuRef8127,277,673 - 127,277,873UniSTS
D8S1208  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
HuRef8127,278,566 - 127,278,633UniSTS
D8S1092  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map8q24UniSTS
HuRef8127,349,228 - 127,349,431UniSTS
Whitehead-YAC Contig Map8 UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
735 1498 2232 1124 4570 851 1269 323 452 176 1818 3361 2990 14 3565 494 1141 940 148

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005250769 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359688 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054359691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC011974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC037453 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC087341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ104739 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DR003657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  GQ472223 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HF583597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M83533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z35309 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000286355   ⟹   ENSP00000286355
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8130,780,301 - 131,040,909 (-)Ensembl
Ensembl Acc Id: ENST00000377928   ⟹   ENSP00000367161
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8130,780,390 - 131,040,333 (-)Ensembl
Ensembl Acc Id: ENST00000522949   ⟹   ENSP00000428010
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8130,903,772 - 130,990,865 (-)Ensembl
RefSeq Acc Id: NM_001115   ⟹   NP_001106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,301 - 131,040,909 (-)NCBI
GRCh378131,792,546 - 132,053,012 (-)NCBI
Build 368131,861,729 - 132,123,854 (-)NCBI Archive
HuRef8127,235,506 - 127,372,263 (-)ENTREZGENE
HuRef8127,112,105 - 127,216,470 (-)NCBI
CHM1_18131,833,662 - 132,093,872 (-)NCBI
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005250769   ⟹   XP_005250826
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,301 - 131,040,909 (-)NCBI
GRCh378131,792,546 - 132,053,012 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716501   ⟹   XP_006716564
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,301 - 131,040,909 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013006   ⟹   XP_016868495
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,780,301 - 131,040,909 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013007   ⟹   XP_016868496
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388130,894,072 - 131,040,909 (-)NCBI
Sequence:
RefSeq Acc Id: XM_054359688   ⟹   XP_054215663
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBI
RefSeq Acc Id: XM_054359689   ⟹   XP_054215664
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBI
RefSeq Acc Id: XM_054359690   ⟹   XP_054215665
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08131,907,547 - 132,167,269 (-)NCBI
RefSeq Acc Id: XM_054359691   ⟹   XP_054215666
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08132,009,905 - 132,167,269 (-)NCBI
RefSeq Acc Id: NP_001106   ⟸   NM_001115
- UniProtKB: P40145 (UniProtKB/Swiss-Prot),   A0A0K0K1K3 (UniProtKB/TrEMBL),   E7EVL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005250826   ⟸   XM_005250769
- Peptide Label: isoform X1
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006716564   ⟸   XM_006716501
- Peptide Label: isoform X2
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868495   ⟸   XM_017013006
- Peptide Label: isoform X3
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016868496   ⟸   XM_017013007
- Peptide Label: isoform X4
- Sequence:
Ensembl Acc Id: ENSP00000367161   ⟸   ENST00000377928
Ensembl Acc Id: ENSP00000286355   ⟸   ENST00000286355
Ensembl Acc Id: ENSP00000428010   ⟸   ENST00000522949
RefSeq Acc Id: XP_054215665   ⟸   XM_054359690
- Peptide Label: isoform X3
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215664   ⟸   XM_054359689
- Peptide Label: isoform X2
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215663   ⟸   XM_054359688
- Peptide Label: isoform X1
- UniProtKB: E7EVL1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054215666   ⟸   XM_054359691
- Peptide Label: isoform X4
Protein Domains
Guanylate cyclase

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P40145-F1-model_v2 AlphaFold P40145 1-1251 view protein structure

Promoters
RGD ID:7214193
Promoter ID:EPDNEW_H12842
Type:initiation region
Name:ADCY8_1
Description:adenylate cyclase 8
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388131,041,538 - 131,041,598EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:239 AgrOrtholog
COSMIC ADCY8 COSMIC
Ensembl Genes ENSG00000155897 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000286355 ENTREZGENE
  ENST00000286355.10 UniProtKB/Swiss-Prot
  ENST00000377928 ENTREZGENE
  ENST00000377928.7 UniProtKB/TrEMBL
  ENST00000522949.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.70.1230 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000155897 GTEx
HGNC ID HGNC:239 ENTREZGENE
Human Proteome Map ADCY8 Human Proteome Map
InterPro A/G_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  A/G_cyclase_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Adcy_conserved_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Nucleotide_cyclase UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:114 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 114 ENTREZGENE
OMIM 103070 OMIM
PANTHER ADENYLATE CYCLASE TYPE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ADENYLATE CYCLASE TYPE 8 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam AC_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  DUF1053 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Guanylate_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB ADCY8 RGD, PharmGKB
PIRSF Ade_cyc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE GUANYLATE_CYCLASE_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GUANYLATE_CYCLASE_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART CYCc UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF55073 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A0K0K1K3 ENTREZGENE, UniProtKB/TrEMBL
  ADCY8_HUMAN UniProtKB/Swiss-Prot
  E5RFR2_HUMAN UniProtKB/TrEMBL
  E7EVL1 ENTREZGENE, UniProtKB/TrEMBL
  L8E7I7_HUMAN UniProtKB/TrEMBL
  P40145 ENTREZGENE
  Q4F7X0_HUMAN UniProtKB/TrEMBL


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-06-28 ADCY8  adenylate cyclase 8  ADCY8  adenylate cyclase 8 (brain)  Symbol and/or name change 5135510 APPROVED