CD274 (CD274 molecule) - Rat Genome Database

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Gene: CD274 (CD274 molecule) Homo sapiens
Analyze
Symbol: CD274
Name: CD274 molecule
RGD ID: 1605684
HGNC Page HGNC
Description: Involved in several processes, including positive regulation of activated CD8-positive, alpha-beta T cell apoptotic process; regulation of T cell activation; and regulation of cytokine production. Located in several cellular components, including endosome membrane; extracellular exosome; and nucleoplasm. Biomarker of several diseases, including Cryptococcal meningitis; Human papillomavirus infectious disease; gastrointestinal system cancer (multiple); lymphoma (multiple); and tuberculosis (multiple).
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: B7 homolog 1; B7-H; B7H1; CD274 antigen; hPD-L1; MGC142294; MGC142296; PD-L1; PDCD1 ligand 1; PDCD1L1; PDCD1LG1; PDL1; programmed cell death 1 ligand 1; programmed death ligand 1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,450,542 - 5,470,554 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)EnsemblGRCh38hg38GRCh38
GRCh3795,450,542 - 5,470,554 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,440,559 - 5,458,477 (+)NCBINCBI36hg18NCBI36
Celera95,376,139 - 5,396,204 (+)NCBI
Cytogenetic Map9p24.1NCBI
HuRef95,406,210 - 5,426,274 (+)NCBIHuRef
CHM1_195,450,664 - 5,470,759 (+)NCBICHM1_1
T2T-CHM13v2.095,455,669 - 5,475,674 (+)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View
acute myocarditis  (ISO)
adult T-cell leukemia  (IEP)
allergic disease  (EXP)
alveolar echinococcosis  (ISO)
anti-basement membrane glomerulonephritis  (ISO)
asthma  (ISO)
autoimmune hepatitis  (ISO)
cervix uteri carcinoma in situ  (IEP)
Chlamydia pneumonia  (ISO)
Chronic Hepatitis B  (IEP,ISO)
Chronic Hepatitis C  (IEP)
colon cancer  (ISO)
Corneal Graft Rejection  (ISO)
Coxsackievirus Infections  (ISO)
cryptococcal meningitis  (IEP)
cutaneous leishmaniasis  (ISO)
Disease Progression  (EXP)
Fungemia  (ISO)
Hepatic Echinococcosis  (ISO)
hepatitis C  (IEP)
hepatocellular carcinoma  (EXP,IEP)
herpes simplex  (ISO)
herpes simplex virus keratitis  (ISO)
histoplasmosis  (ISO)
human immunodeficiency virus infectious disease  (IEP)
influenza  (IEP)
Lung Neoplasms  (EXP)
lymphocytic choriomeningitis  (ISO)
lymphoma  (EXP)
Mammary Neoplasms, Experimental  (ISO)
nasal type extranodal NK/T-cell lymphoma  (IEP)
Neoplasm Metastasis  (IEP)
Neoplasms, Radiation-Induced  (EXP)
ovarian cancer  (ISO)
papillomavirus infectious disease  (IEP)
periodontitis  (ISO)
pre-eclampsia  (ISO)
primary progressive multiple sclerosis  (ISO)
pulmonary tuberculosis  (IEP)
rabies  (ISO)
Recurrence  (EXP)
Recurrent Respiratory Papillomatosis  (IEP)
respiratory syncytial virus infectious disease  (ISO)
Retroviridae Infections  (ISO)
Sepsis  (IEP)
Spinal Cord Injuries  (ISO)
stomach cancer  (IEP)
substance-related disorder  (EXP)
Thymus Neoplasms  (EXP)
toxic shock syndrome  (IEP)
Transplant Rejection  (ISO)
tuberculosis  (IEP)
Viral Bronchiolitis  (ISO)
viral encephalitis  (ISO)

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-demecolcine  (EXP)
1,2-dimethylhydrazine  (ISO)
1,4-phenylenediamine  (EXP)
1-chloro-2,4-dinitrobenzene  (EXP)
1-naphthyl isothiocyanate  (ISO)
17beta-estradiol  (ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2-hydroxypropanoic acid  (EXP)
3-phenylprop-2-enal  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-azacytidine  (EXP)
5-fluorouracil  (EXP)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
aripiprazole  (EXP)
arsenous acid  (EXP)
benzalkonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
bisphenol A  (EXP,ISO)
bromobenzene  (ISO)
buta-1,3-diene  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
calcitriol  (EXP)
cannabidiol  (ISO)
carbon nanotube  (ISO)
carboplatin  (EXP)
chloroquine  (EXP)
chlorpromazine  (EXP)
chlorpyrifos  (ISO)
cisplatin  (EXP,ISO)
decabromodiphenyl ether  (ISO)
dexamethasone  (ISO)
dextran sulfate  (ISO)
diarsenic trioxide  (EXP)
dioxygen  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
estriol  (ISO)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
eugenol  (EXP)
ferric oxide  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
furan  (ISO)
gemcitabine  (EXP)
gentamycin  (ISO)
imiquimod  (ISO)
isoeugenol  (EXP)
kojic acid  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP,ISO)
LY294002  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
nickel sulfate  (EXP)
oleanolic acid  (EXP)
oxaliplatin  (EXP)
ozone  (EXP)
paclitaxel  (EXP)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
pentanal  (EXP)
phenformin  (ISO)
phenobarbital  (ISO)
platycodin D  (EXP)
protein kinase inhibitor  (EXP)
rac-lactic acid  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
sevoflurane  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (EXP,ISO)
succimer  (ISO)
sunitinib  (EXP)
testosterone  (EXP,ISO)
tetrachloromethane  (ISO)
thalidomide  (EXP)
thioacetamide  (ISO)
thyroxine  (EXP)
titanium dioxide  (ISO)
trans-isoeugenol  (EXP)
trichloroethene  (ISO)
trichostatin A  (EXP)
urethane  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vincristine  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

References

References - curated
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Additional References at PubMed
PMID:8889549   PMID:10581077   PMID:11015443   PMID:11224527   PMID:12091876   PMID:12244148   PMID:12468426   PMID:12477932   PMID:12538684   PMID:12606489   PMID:12646628   PMID:12704383  
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PMID:18941206   PMID:18981087   PMID:19010538   PMID:19056397   PMID:19081139   PMID:19088198   PMID:19116915   PMID:19224168   PMID:19229109   PMID:19264916   PMID:19297851   PMID:19442732  
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PMID:25310899   PMID:25311064   PMID:25337246   PMID:25342040   PMID:25348003   PMID:25349132   PMID:25349974   PMID:25355681   PMID:25361008   PMID:25371070   PMID:25384063   PMID:25402569  
PMID:25428917   PMID:25433812   PMID:25437496   PMID:25477049   PMID:25538263   PMID:25550797   PMID:25582496   PMID:25600565   PMID:25609200   PMID:25609202   PMID:25609381   PMID:25645920  
PMID:25658629   PMID:25662388   PMID:25669979   PMID:25697485   PMID:25702326   PMID:25730066   PMID:25733810   PMID:25747678   PMID:25749122   PMID:25775126   PMID:25778100   PMID:25788491  
PMID:25799277   PMID:25801435   PMID:25810125   PMID:25851293   PMID:25862146   PMID:25867264   PMID:25871477   PMID:25891731   PMID:25897014   PMID:25926674   PMID:25936667   PMID:25963805  
PMID:25977340   PMID:26004934   PMID:26014095   PMID:26019170   PMID:26024796   PMID:26041877   PMID:26049756   PMID:26084609   PMID:26086854   PMID:26093818   PMID:26110571   PMID:26114883  
PMID:26133691   PMID:26141060   PMID:26159545   PMID:26171934   PMID:26176707   PMID:26186194   PMID:26209749   PMID:26239088   PMID:26245467   PMID:26261529   PMID:26284927   PMID:26286967  
PMID:26299988   PMID:26313362   PMID:26317305   PMID:26317899   PMID:26317902   PMID:26320063   PMID:26321145   PMID:26323609   PMID:26329973   PMID:26337747   PMID:26346135   PMID:26349666  
PMID:26352784   PMID:26364145   PMID:26367730   PMID:26373277   PMID:26373575   PMID:26378017   PMID:26378076   PMID:26403783   PMID:26403784   PMID:26408403   PMID:26408698   PMID:26419843  
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PMID:31981446   PMID:31982822   PMID:31983188   PMID:31988315   PMID:31992245   PMID:31992262   PMID:32012411   PMID:32013991   PMID:32020232   PMID:32030476   PMID:32030768   PMID:32041789  
PMID:32044885   PMID:32048861   PMID:32066405   PMID:32068670   PMID:32075390   PMID:32079038   PMID:32084380   PMID:32089543   PMID:32093629   PMID:32097935   PMID:32102750   PMID:32105362  
PMID:32111764   PMID:32115573   PMID:32115801   PMID:32115850   PMID:32120023   PMID:32122188   PMID:32134157   PMID:32134754   PMID:32139302   PMID:32143684   PMID:32152503   PMID:32154654  
PMID:32166496   PMID:32176676   PMID:32178965   PMID:32183950   PMID:32191146   PMID:32191754   PMID:32192776   PMID:32193699   PMID:32198140   PMID:32200323   PMID:32203167   PMID:32203210  
PMID:32203213   PMID:32205739   PMID:32210369   PMID:32211792   PMID:32221016   PMID:32222780   PMID:32236615   PMID:32237066   PMID:32238062   PMID:32238865   PMID:32243638   PMID:32245950  
PMID:32246989   PMID:32248559   PMID:32248797   PMID:32251621   PMID:32255189   PMID:32255257   PMID:32264742   PMID:32268011   PMID:32272498   PMID:32277292   PMID:32277627   PMID:32279340  
PMID:32294103   PMID:32296041   PMID:32300119   PMID:32310306   PMID:32311203   PMID:32314040   PMID:32319563   PMID:32321471   PMID:32325698   PMID:32330348   PMID:32331794   PMID:32335324  
PMID:32339606   PMID:32344357   PMID:32346937   PMID:32350394   PMID:32354698   PMID:32358635   PMID:32372174   PMID:32376735   PMID:32377817   PMID:32377818   PMID:32383351   PMID:32384321  
PMID:32386255   PMID:32386458   PMID:32388585   PMID:32389509   PMID:32392925   PMID:32398324   PMID:32401663   PMID:32402921   PMID:32404957   PMID:32405745   PMID:32406589   PMID:32411801  
PMID:32418990   PMID:32424065   PMID:32424767   PMID:32430672   PMID:32430734   PMID:32439701   PMID:32445029   PMID:32445780   PMID:32446718   PMID:32447649   PMID:32448984   PMID:32457124  
PMID:32458769   PMID:32459310   PMID:32459892   PMID:32463489   PMID:32468028   PMID:32468210   PMID:32470632   PMID:32483429   PMID:32483441   PMID:32487171   PMID:32493964   PMID:32498941  
PMID:32506394   PMID:32516377   PMID:32520957   PMID:32527769   PMID:32527943   PMID:32529260   PMID:32532789   PMID:32535334   PMID:32546692   PMID:32554931   PMID:32557663   PMID:32576238  
PMID:32577816   PMID:32578199   PMID:32579541   PMID:32580737   PMID:32586689   PMID:32588395   PMID:32593917   PMID:32596285   PMID:32605911   PMID:32616706   PMID:32620612   PMID:32620644  
PMID:32631957   PMID:32632098   PMID:32633234   PMID:32641599   PMID:32653671   PMID:32665011   PMID:32665297   PMID:32671898   PMID:32672060   PMID:32672418   PMID:32679050   PMID:32681519  
PMID:32684057   PMID:32685057   PMID:32687248   PMID:32694160   PMID:32699939   PMID:32700091   PMID:32703358   PMID:32704067   PMID:32709714   PMID:32712650   PMID:32718057   PMID:32723834  
PMID:32723836   PMID:32724129   PMID:32724483   PMID:32724815   PMID:32726470   PMID:32730911   PMID:32737851   PMID:32738025   PMID:32738418   PMID:32738648   PMID:32744106   PMID:32746878  
PMID:32751328   PMID:32761300   PMID:32762373   PMID:32765198   PMID:32768186   PMID:32768804   PMID:32770259   PMID:32778505   PMID:32779238   PMID:32780918   PMID:32799091   PMID:32802199  
PMID:32803453   PMID:32807653   PMID:32808399   PMID:32815748   PMID:32816860   PMID:32820017   PMID:32825960   PMID:32825972   PMID:32826327   PMID:32828292   PMID:32832992   PMID:32835563  
PMID:32839442   PMID:32839486   PMID:32839551   PMID:32842025   PMID:32853956   PMID:32854477   PMID:32855204   PMID:32859740   PMID:32860814   PMID:32862461   PMID:32862585   PMID:32864684  
PMID:32866782   PMID:32874188   PMID:32881084   PMID:32883520   PMID:32884946   PMID:32887724   PMID:32892196   PMID:32893980   PMID:32894380   PMID:32894642   PMID:32897465   PMID:32915266  
PMID:32915645   PMID:32917214   PMID:32919305   PMID:32920160   PMID:32921017   PMID:32929059   PMID:32929886   PMID:32941674   PMID:32951108   PMID:32960462   PMID:32960817   PMID:32962309  
PMID:32969795   PMID:32976705   PMID:32977151   PMID:32986884   PMID:32987122   PMID:32992412   PMID:32996041   PMID:32999345   PMID:33000204   PMID:33003481   PMID:33022760   PMID:33030848  
PMID:33031808   PMID:33039811   PMID:33043814   PMID:33045001   PMID:33045663   PMID:33046511   PMID:33054597   PMID:33058325   PMID:33059196   PMID:33059241   PMID:33062072   PMID:33063451  
PMID:33070512   PMID:33073683   PMID:33078970   PMID:33084148   PMID:33089401   PMID:33091231   PMID:33094805   PMID:33098489   PMID:33099927   PMID:33104298   PMID:33109533   PMID:33112575  
PMID:33113005   PMID:33113541   PMID:33121190   PMID:33127884   PMID:33128107   PMID:33132244   PMID:33137405   PMID:33142053   PMID:33142852   PMID:33144421   PMID:33145762   PMID:33145941  
PMID:33155337   PMID:33162971   PMID:33168738   PMID:33168847   PMID:33169454   PMID:33171124   PMID:33171331   PMID:33184096   PMID:33187013   PMID:33187554   PMID:33193363   PMID:33196892  
PMID:33204322   PMID:33204603   PMID:33207265   PMID:33216211   PMID:33218332   PMID:33224142   PMID:33229411   PMID:33231796   PMID:33231797   PMID:33232723   PMID:33233528   PMID:33236151  
PMID:33239417   PMID:33246647   PMID:33247999   PMID:33266349   PMID:33268574   PMID:33272690   PMID:33273548   PMID:33275458   PMID:33278498   PMID:33288883   PMID:33298250   PMID:33298732  
PMID:33299141   PMID:33300360   PMID:33301655   PMID:33306195   PMID:33308232   PMID:33314356   PMID:33315908   PMID:33318295   PMID:33323859   PMID:33323966   PMID:33324403   PMID:33325140  
PMID:33328484   PMID:33328570   PMID:33329573   PMID:33332859   PMID:33337839   PMID:33337915   PMID:33347847   PMID:33359128   PMID:33359245   PMID:33360026   PMID:33361404   PMID:33380650  
PMID:33385948   PMID:33386384   PMID:33387039   PMID:33388419   PMID:33398391   PMID:33413365   PMID:33413496   PMID:33413574   PMID:33416094   PMID:33424844   PMID:33433422   PMID:33440275  
PMID:33446741   PMID:33454500   PMID:33457085   PMID:33457428   PMID:33462141   PMID:33469839   PMID:33472857   PMID:33478196   PMID:33479024   PMID:33479394   PMID:33480087   PMID:33483343  
PMID:33485052   PMID:33486611   PMID:33488620   PMID:33492995   PMID:33500467   PMID:33500548   PMID:33503961   PMID:33506299   PMID:33508291   PMID:33521133   PMID:33523034   PMID:33537094  
PMID:33552075   PMID:33552089   PMID:33555514   PMID:33564072   PMID:33574401   PMID:33576873   PMID:33579737   PMID:33580098   PMID:33580222   PMID:33581579   PMID:33583114   PMID:33583159  
PMID:33588246   PMID:33589523   PMID:33589532   PMID:33599823   PMID:33602100   PMID:33605797   PMID:33606065   PMID:33611059   PMID:33611710   PMID:33615483   PMID:33620088   PMID:33627620  
PMID:33632085   PMID:33639481   PMID:33641057   PMID:33649535   PMID:33649593   PMID:33662590   PMID:33667790   PMID:33671892   PMID:33676601   PMID:33679715   PMID:33683684   PMID:33683685  
PMID:33686666   PMID:33693450   PMID:33707115   PMID:33715305   PMID:33721375   PMID:33721560   PMID:33721613   PMID:33728352   PMID:33730723   PMID:33730957   PMID:33734107   PMID:33735518  
PMID:33737722   PMID:33743575   PMID:33749663   PMID:33760188   PMID:33765613   PMID:33771483   PMID:33777676   PMID:33782030   PMID:33782411   PMID:33789303   PMID:33793112   PMID:33796940  
PMID:33811537   PMID:33815356   PMID:33824367   PMID:33824459   PMID:33832149   PMID:33833050   PMID:33833369   PMID:33849634   PMID:33858847   PMID:33862415   PMID:33877652   PMID:33878452  
PMID:33879767   PMID:33879814   PMID:33884962   PMID:33889438   PMID:33890340   PMID:33897693   PMID:33904361   PMID:33909149   PMID:33909988   PMID:33930105   PMID:33931470   PMID:33934376  
PMID:33941556   PMID:33941922   PMID:33946835   PMID:33952478   PMID:33954872   PMID:33954988   PMID:33955097   PMID:33955303   PMID:33956203   PMID:33956842   PMID:33961781   PMID:33963374  
PMID:33963441   PMID:33964809   PMID:33970922   PMID:33972391   PMID:33973642   PMID:33975004   PMID:33979899   PMID:33990845   PMID:33991512   PMID:33992711   PMID:33992804   PMID:34002648  
PMID:34015311   PMID:34026438   PMID:34034998   PMID:34044017   PMID:34047473   PMID:34049578   PMID:34052328   PMID:34054840   PMID:34054869   PMID:34055974   PMID:34056703   PMID:34057120  
PMID:34059019   PMID:34067485   PMID:34073318   PMID:34074094   PMID:34078046   PMID:34083315   PMID:34083572   PMID:34088360   PMID:34097308   PMID:34098485   PMID:34104078   PMID:34106820  
PMID:34108491   PMID:34118979   PMID:34120295   PMID:34122444   PMID:34125179   PMID:34126195   PMID:34127811   PMID:34130989   PMID:34131208   PMID:34143491   PMID:34152672   PMID:34158547  
PMID:34167064   PMID:34167551   PMID:34170390   PMID:34172932   PMID:34180502   PMID:34180731   PMID:34182610   PMID:34183449   PMID:34183505   PMID:34189951   PMID:34193942   PMID:34196706  
PMID:34206051   PMID:34209514   PMID:34230139   PMID:34236149   PMID:34240739   PMID:34256773   PMID:34257548   PMID:34268602   PMID:34269299   PMID:34270713   PMID:34271938   PMID:34272092  
PMID:34276259   PMID:34281840   PMID:34281845   PMID:34289424   PMID:34291367   PMID:34297096   PMID:34297698   PMID:34301762   PMID:34307695   PMID:34315821   PMID:34315872   PMID:34321242  
PMID:34321456   PMID:34321489   PMID:34322779   PMID:34324065   PMID:34324661   PMID:34326687   PMID:34341259   PMID:34346116   PMID:34347720   PMID:34354151   PMID:34356594   PMID:34365463  
PMID:34375025   PMID:34376553   PMID:34377593   PMID:34385594   PMID:34386930   PMID:34392396   PMID:34400221   PMID:34400885   PMID:34405609   PMID:34407431   PMID:34413420   PMID:34416901  
PMID:34424568   PMID:34425872   PMID:34429434   PMID:34437586   PMID:34445462   PMID:34460096   PMID:34471191   PMID:34473230   PMID:34473430   PMID:34474671   PMID:34475086   PMID:34476262  
PMID:34478821   PMID:34480529   PMID:34486197   PMID:34493824   PMID:34510437   PMID:34514576   PMID:34519584   PMID:34519637   PMID:34520052   PMID:34522232   PMID:34523356   PMID:34526987  
PMID:34533233   PMID:34534136   PMID:34538007   PMID:34542773   PMID:34548615   PMID:34552581   PMID:34558414   PMID:34559381   PMID:34560256   PMID:34571084   PMID:34572014   PMID:34575971  
PMID:34576006   PMID:34585994   PMID:34591723   PMID:34599199   PMID:34600407   PMID:34601021   PMID:34605709   PMID:34608837   PMID:34611279   PMID:34613497   PMID:34616011   PMID:34616407  
PMID:34632870   PMID:34653794   PMID:34666670   PMID:34676904   PMID:34681840   PMID:34685625   PMID:34697997   PMID:34699324   PMID:34719158   PMID:34720049   PMID:34731593   PMID:34738358  
PMID:34738731   PMID:34741014   PMID:34743724   PMID:34768776   PMID:34768993   PMID:34769226   PMID:34780566   PMID:34781737   PMID:34789838   PMID:34793567   PMID:34795058   PMID:34795206  
PMID:34796777   PMID:34797860   PMID:34799452   PMID:34804639   PMID:34825707   PMID:34828321   PMID:34829995   PMID:34830179   PMID:34830454   PMID:34839857   PMID:34841687   PMID:34842351  
PMID:34843822   PMID:34846251   PMID:34853305   PMID:34863286   PMID:34873175   PMID:34874185   PMID:34884892   PMID:34887263   PMID:34899719   PMID:34903133   PMID:34916485   PMID:34916656  
PMID:34927311   PMID:34942512   PMID:34946254   PMID:34953041   PMID:34953898   PMID:34954558   PMID:34968160   PMID:34969085   PMID:34988230   PMID:34991094   PMID:34992670   PMID:34996890  
PMID:35008490   PMID:35015307   PMID:35032188   PMID:35036076   PMID:35037417   PMID:35048634   PMID:35056382   PMID:35076848   PMID:35091156   PMID:35093708   PMID:35095850   PMID:35100066  
PMID:35104793   PMID:35111150   PMID:35126639   PMID:35131863   PMID:35132224   PMID:35139126   PMID:35145510   PMID:35145511   PMID:35149558   PMID:35151031   PMID:35154166   PMID:35163489  
PMID:35163542   PMID:35165339   PMID:35167195   PMID:35169863   PMID:35175967   PMID:35181584   PMID:35181605   PMID:35187890   PMID:35188766   PMID:35197058   PMID:35197539   PMID:35208498  
PMID:35220229   PMID:35220253   PMID:35220884   PMID:35226658   PMID:35238073   PMID:35241563   PMID:35265200   PMID:35316876   PMID:35345385   PMID:35346570   PMID:35356153   PMID:35371618  
PMID:35373505   PMID:35386715   PMID:35414774   PMID:35435118   PMID:35435364   PMID:35449848   PMID:35456895   PMID:35458548   PMID:35485706   PMID:35489730  


Genomics

Comparative Map Data
CD274
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3895,450,542 - 5,470,554 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)EnsemblGRCh38hg38GRCh38
GRCh3795,450,542 - 5,470,554 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3695,440,559 - 5,458,477 (+)NCBINCBI36hg18NCBI36
Celera95,376,139 - 5,396,204 (+)NCBI
Cytogenetic Map9p24.1NCBI
HuRef95,406,210 - 5,426,274 (+)NCBIHuRef
CHM1_195,450,664 - 5,470,759 (+)NCBICHM1_1
T2T-CHM13v2.095,455,669 - 5,475,674 (+)NCBI
Cd274
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391929,339,428 - 29,365,495 (+)NCBIGRCm39mm39
GRCm39 Ensembl1929,344,855 - 29,365,495 (+)Ensembl
GRCm381929,362,107 - 29,388,095 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1929,367,455 - 29,388,095 (+)EnsemblGRCm38mm10GRCm38
MGSCv371929,441,928 - 29,462,585 (+)NCBIGRCm37mm9NCBIm37
MGSCv361929,433,452 - 29,454,092 (+)NCBImm8
Celera1930,144,050 - 30,164,685 (+)NCBICelera
Cytogenetic Map19C1NCBI
Cd274
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21227,116,627 - 227,137,379 (+)NCBImRatBN7.2
mRatBN7.2 Ensembl1227,116,649 - 227,134,450 (+)Ensembl
Rnor_6.01247,519,890 - 247,539,659 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1247,519,939 - 247,537,943 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01254,768,528 - 254,788,292 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41233,053,607 - 233,065,384 (+)NCBIRGSC3.4rn4RGSC3.4
Celera1224,273,306 - 224,285,083 (+)NCBICelera
Cytogenetic Map1q52NCBI
Cd274
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554349,487,315 - 9,505,904 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554349,487,309 - 9,508,366 (+)NCBIChiLan1.0ChiLan1.0
CD274
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.195,454,391 - 5,474,452 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl95,454,391 - 5,474,402 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v095,269,270 - 5,289,629 (+)NCBIMhudiblu_PPA_v0panPan3
CD274
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1193,461,735 - 93,605,772 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl193,585,518 - 93,603,522 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha193,993,732 - 94,011,736 (+)NCBI
ROS_Cfam_1.0194,015,405 - 94,159,596 (+)NCBI
ROS_Cfam_1.0 Ensembl194,139,343 - 94,159,596 (+)Ensembl
UMICH_Zoey_3.1193,771,527 - 93,789,533 (+)NCBI
UNSW_CanFamBas_1.0193,496,313 - 93,514,317 (+)NCBI
UU_Cfam_GSD_1.0194,260,510 - 94,278,519 (+)NCBI
Cd274
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947141,675,278 - 141,693,582 (+)NCBI
SpeTri2.0NW_004936539132,870 - 145,288 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CD274
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1216,660,047 - 216,792,724 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11216,646,378 - 216,792,731 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21242,395,402 - 242,416,220 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CD274
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11274,038,844 - 74,060,662 (-)NCBIChlSab1.1chlSab2
ChlSab1.1 Ensembl1274,041,767 - 74,056,806 (-)EnsemblChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366603862,428,363 - 62,448,555 (-)NCBIVero_WHO_p1.0
Cd274
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247369,996,156 - 10,013,814 (+)EnsemblHetGla_female_1.0hetGla2
HetGla 1.0NW_0046247369,991,851 - 10,017,047 (+)NCBIHetGla_female_1.0hetGla2

Position Markers
RH45176  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,469,986 - 5,470,177UniSTSGRCh37
Build 3695,459,986 - 5,460,177RGDNCBI36
Celera95,395,623 - 5,395,814RGD
Cytogenetic Map9p24UniSTS
GeneMap99-GB4 RH Map924.45UniSTS
NCBI RH Map944.9UniSTS
RH92039  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,463,000 - 5,463,119UniSTSGRCh37
Build 3695,453,000 - 5,453,119RGDNCBI36
Celera95,388,637 - 5,388,756RGD
Cytogenetic Map9p24UniSTS
HuRef95,418,708 - 5,418,827UniSTS
GeneMap99-GB4 RH Map924.45UniSTS
SHGC-83529  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,454,147 - 5,454,443UniSTSGRCh37
Build 3695,444,147 - 5,444,443RGDNCBI36
Celera95,379,784 - 5,380,080RGD
Cytogenetic Map9p24UniSTS
HuRef95,409,855 - 5,410,151UniSTS
TNG Radiation Hybrid Map92549.0UniSTS
PDCD1LG1_2379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,467,839 - 5,468,480UniSTSGRCh37
Build 3695,457,839 - 5,458,480RGDNCBI36
Celera95,393,476 - 5,394,117RGD
HuRef95,423,546 - 5,424,187UniSTS
RH78877  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3795,470,274 - 5,470,399UniSTSGRCh37
Build 3695,460,274 - 5,460,399RGDNCBI36
Celera95,395,911 - 5,396,036RGD
Cytogenetic Map9p24UniSTS
HuRef95,425,981 - 5,426,106UniSTS
GeneMap99-GB4 RH Map922.93UniSTS
NCBI RH Map945.3UniSTS

miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR513A2hsa-miR-513a-5pMirtarbaseexternal_infoLuciferase reporter assay//Western blotFunctional MTI19155478
MIR513A2hsa-miR-513a-5pMirecordsexternal_infoNANA19155478

Predicted Target Of
Summary Value
Count of predictions:2655
Count of miRNA genes:846
Interacting mature miRNAs:980
Transcripts:ENST00000381573, ENST00000381577, ENST00000474218, ENST00000492923, ENST00000498261
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.


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 42 214 47 17 803 19 34 67 57 27 69 643 4 39 4 3
Low 2322 2636 1615 554 976 395 3844 1996 3120 379 1339 928 165 1164 2608
Below cutoff 66 134 59 50 156 48 456 120 532 12 37 34 3 1 176 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001267706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001314029 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_014143 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_052005 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047423262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA399416 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF177937 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF233516 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI826502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK001894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK300470 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL135786 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL162253 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY254342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY291313 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY714881 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC074984 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC113736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471071 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068269 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB160805 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ286582 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ836393 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JA738699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF458896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000381573   ⟹   ENSP00000370985
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,450,503 - 5,470,566 (+)Ensembl
RefSeq Acc Id: ENST00000381577   ⟹   ENSP00000370989
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,450,542 - 5,470,554 (+)Ensembl
RefSeq Acc Id: ENST00000474218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,457,384 - 5,463,238 (+)Ensembl
RefSeq Acc Id: ENST00000492923
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,462,935 - 5,465,912 (+)Ensembl
RefSeq Acc Id: ENST00000498261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl95,456,114 - 5,467,866 (+)Ensembl
RefSeq Acc Id: NM_001267706   ⟹   NP_001254635
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)NCBI
HuRef95,406,210 - 5,426,274 (+)NCBI
CHM1_195,450,664 - 5,470,759 (+)NCBI
T2T-CHM13v2.095,455,669 - 5,475,674 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001314029   ⟹   NP_001300958
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,463,238 (+)NCBI
CHM1_195,450,664 - 5,463,432 (+)NCBI
T2T-CHM13v2.095,455,669 - 5,468,365 (+)NCBI
Sequence:
RefSeq Acc Id: NM_014143   ⟹   NP_054862
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)ENTREZGENE
Build 3695,440,559 - 5,458,477 (+)NCBI Archive
HuRef95,406,210 - 5,426,274 (+)ENTREZGENE
CHM1_195,450,664 - 5,470,759 (+)NCBI
T2T-CHM13v2.095,455,669 - 5,475,674 (+)NCBI
Sequence:
RefSeq Acc Id: NR_052005
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
GRCh3795,450,503 - 5,470,567 (+)NCBI
HuRef95,406,210 - 5,426,274 (+)NCBI
CHM1_195,450,664 - 5,470,759 (+)NCBI
T2T-CHM13v2.095,455,669 - 5,475,674 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047423262   ⟹   XP_047279218
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3895,450,542 - 5,470,554 (+)NCBI
Reference Sequences
RefSeq Acc Id: NP_054862   ⟸   NM_014143
- Peptide Label: isoform a precursor
- UniProtKB: Q9NZQ7 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001254635   ⟸   NM_001267706
- Peptide Label: isoform b precursor
- UniProtKB: Q9NZQ7 (UniProtKB/Swiss-Prot),   Q0GN75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001300958   ⟸   NM_001314029
- Peptide Label: isoform c precursor
- UniProtKB: Q0GN75 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000370989   ⟸   ENST00000381577
RefSeq Acc Id: ENSP00000370985   ⟸   ENST00000381573
RefSeq Acc Id: XP_047279218   ⟸   XM_047423262
- Peptide Label: isoform X1
Protein Domains
Ig-like   Ig-like C2-type   Ig-like V-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NZQ7-F1-model_v2 AlphaFold Q9NZQ7 1-290 view protein structure

Promoters
RGD ID:6807369
Promoter ID:HG_KWN:62540
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000262354,   ENST00000381573,   NM_014143
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,440,299 - 5,440,799 (+)MPROMDB
RGD ID:6807978
Promoter ID:HG_KWN:62541
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC003ZJF.1,   UC010MHN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,445,231 - 5,445,731 (+)MPROMDB
RGD ID:6807367
Promoter ID:HG_KWN:62542
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:OTTHUMT00000051633
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,446,576 - 5,447,422 (+)MPROMDB
RGD ID:7214619
Promoter ID:EPDNEW_H13056
Type:initiation region
Name:CD274_1
Description:CD274 molecule
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
GRCh3895,450,542 - 5,450,602EPDNEW
RGD ID:6807366
Promoter ID:HG_KWN:62543
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:OTTHUMT00000051632
Position:
Human AssemblyChrPosition (strand)Source
Build 3695,452,116 - 5,453,207 (+)MPROMDB

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000050357] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000050348] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13974100)x1 copy number loss See cases [RCV000050831] Chr9:204193..13974100 [GRCh38]
Chr9:204193..13974099 [GRCh37]
Chr9:194193..13964099 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:1592306-12387899)x3 copy number gain See cases [RCV000050612] Chr9:1592306..12387899 [GRCh38]
Chr9:1592306..12387899 [GRCh37]
Chr9:1582306..12377899 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.1(chr9:4970093-5483250)x1 copy number loss See cases [RCV000051142] Chr9:4970093..5483250 [GRCh38]
Chr9:4970093..5483250 [GRCh37]
Chr9:4960093..5473250 [NCBI36]
Chr9:9p24.1		 uncertain significance
GRCh38/hg38 9p24.3-13.1(chr9:204193-38741440)x3 copy number gain See cases [RCV000051106] Chr9:204193..38741440 [GRCh38]
Chr9:204193..38741437 [GRCh37]
Chr9:194193..38731437 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211087-13754567)x1 copy number loss See cases [RCV000052856] Chr9:211087..13754567 [GRCh38]
Chr9:211087..13754566 [GRCh37]
Chr9:201087..13744566 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6073001)x1 copy number loss See cases [RCV000052858] Chr9:220253..6073001 [GRCh38]
Chr9:220253..6073001 [GRCh37]
Chr9:210253..6063001 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:220253-18073359)x1 copy number loss See cases [RCV000052860] Chr9:220253..18073359 [GRCh38]
Chr9:220253..18073357 [GRCh37]
Chr9:210253..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-6968724)x1 copy number loss See cases [RCV000052861] Chr9:220253..6968724 [GRCh38]
Chr9:220253..6968724 [GRCh37]
Chr9:210253..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:1242978-18957216)x1 copy number loss See cases [RCV000052863] Chr9:1242978..18957216 [GRCh38]
Chr9:1242978..18957214 [GRCh37]
Chr9:1232978..18947214 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203993-38815619)x3 copy number gain See cases [RCV000053703] Chr9:203993..38815619 [GRCh38]
Chr9:203993..38815616 [GRCh37]
Chr9:193993..38805616 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:204193-22086858)x3 copy number gain See cases [RCV000053704] Chr9:204193..22086858 [GRCh38]
Chr9:204193..22086857 [GRCh37]
Chr9:194193..22076857 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-34599437)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053706]|See cases [RCV000053706] Chr9:204193..34599437 [GRCh38]
Chr9:204193..34599435 [GRCh37]
Chr9:194193..34589435 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124532)x3 copy number gain See cases [RCV000053745] Chr9:193412..138124532 [GRCh38]
Chr9:204193..141018984 [GRCh37]
Chr9:194193..140138805 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204193-33284638)x3 copy number gain See cases [RCV000053707] Chr9:204193..33284638 [GRCh38]
Chr9:204193..33284636 [GRCh37]
Chr9:194193..33274636 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10340779)x1 copy number loss See cases [RCV000054331] Chr9:204193..10340779 [GRCh38]
Chr9:204193..10340779 [GRCh37]
Chr9:194193..10330779 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-12302772)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054332]|See cases [RCV000054332] Chr9:204193..12302772 [GRCh38]
Chr9:204193..12302772 [GRCh37]
Chr9:194193..12292772 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13276053)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054334]|See cases [RCV000054334] Chr9:204193..13276053 [GRCh38]
Chr9:204193..13276052 [GRCh37]
Chr9:194193..13266052 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-9363321)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054336]|See cases [RCV000054336] Chr9:204193..9363321 [GRCh38]
Chr9:204193..9363321 [GRCh37]
Chr9:194193..9353321 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-13454719)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054338]|See cases [RCV000054338] Chr9:204193..13454719 [GRCh38]
Chr9:204193..13454718 [GRCh37]
Chr9:194193..13444718 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-6106482)x1 copy number loss See cases [RCV000054340] Chr9:211086..6106482 [GRCh38]
Chr9:211086..6106482 [GRCh37]
Chr9:201086..6096482 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11867480)x1 copy number loss See cases [RCV000054341] Chr9:211086..11867480 [GRCh38]
Chr9:211086..11867480 [GRCh37]
Chr9:201086..11857480 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:111216-14650762)x1 copy number loss See cases [RCV000054315] Chr9:111216..14650762 [GRCh38]
Chr9:111216..14650760 [GRCh37]
Chr9:101216..14640760 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:195399-11081440)x1 copy number loss See cases [RCV000054316] Chr9:195399..11081440 [GRCh38]
Chr9:199707..11081440 [GRCh37]
Chr9:182102..11071440 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-13753101)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000054317]|See cases [RCV000054317] Chr9:203993..13753101 [GRCh38]
Chr9:203993..13753100 [GRCh37]
Chr9:193993..13743100 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:203993-12621562)x1 copy number loss See cases [RCV000054327] Chr9:203993..12621562 [GRCh38]
Chr9:203993..12621562 [GRCh37]
Chr9:193993..12611562 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3 copy number gain See cases [RCV000053746] Chr9:193412..138114463 [GRCh38]
Chr9:214367..141008915 [GRCh37]
Chr9:204367..140128736 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:220253-38815419)x3 copy number gain See cases [RCV000053747] Chr9:220253..38815419 [GRCh38]
Chr9:220253..38815416 [GRCh37]
Chr9:210253..38805416 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053748]|See cases [RCV000053748] Chr9:193412..138179445 [GRCh38]
Chr9:266045..141073897 [GRCh37]
Chr9:256045..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10473327)x1 copy number loss See cases [RCV000133873] Chr9:204193..10473327 [GRCh38]
Chr9:204193..10473327 [GRCh37]
Chr9:194193..10463327 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-18073359)x1 copy number loss See cases [RCV000133825] Chr9:204193..18073359 [GRCh38]
Chr9:204193..18073357 [GRCh37]
Chr9:194193..18063357 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445) copy number gain See cases [RCV000133791] Chr9:204193..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10164955)x1 copy number loss See cases [RCV000133728] Chr9:204193..10164955 [GRCh38]
Chr9:204193..10164955 [GRCh37]
Chr9:194193..10154955 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:220257-29424848)x3 copy number gain See cases [RCV000134037] Chr9:220257..29424848 [GRCh38]
Chr9:220257..29424846 [GRCh37]
Chr9:210257..29414846 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-13146846)x1 copy number loss See cases [RCV000134126] Chr9:204090..13146846 [GRCh38]
Chr9:204090..13146845 [GRCh37]
Chr9:194090..13136845 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11277770)x1 copy number loss See cases [RCV000133923] Chr9:204193..11277770 [GRCh38]
Chr9:204193..11277770 [GRCh37]
Chr9:194193..11267770 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:13997-68401065)x3 copy number gain See cases [RCV000135344] Chr9:13997..68401065 [GRCh38]
Chr9:13997..71015981 [GRCh37]
Chr9:3997..70205801 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:220253-18708805)x1 copy number loss See cases [RCV000135660] Chr9:220253..18708805 [GRCh38]
Chr9:220253..18708803 [GRCh37]
Chr9:210253..18698803 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-22.1(chr9:204104-18882281)x1 copy number loss See cases [RCV000135694] Chr9:204104..18882281 [GRCh38]
Chr9:204104..18882279 [GRCh37]
Chr9:194104..18872279 [NCBI36]
Chr9:9p24.3-22.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-8866675)x1 copy number loss See cases [RCV000135434] Chr9:220253..8866675 [GRCh38]
Chr9:220253..8866675 [GRCh37]
Chr9:210253..8856675 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204193-6968724)x1 copy number loss See cases [RCV000135544] Chr9:204193..6968724 [GRCh38]
Chr9:204193..6968724 [GRCh37]
Chr9:194193..6958724 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-10852686)x1 copy number loss See cases [RCV000135563] Chr9:204193..10852686 [GRCh38]
Chr9:204193..10852686 [GRCh37]
Chr9:194193..10842686 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.12(chr9:193412-70630731)x3 copy number gain See cases [RCV000136152] Chr9:193412..70630731 [GRCh38]
Chr9:220253..73245647 [GRCh37]
Chr9:210253..72435467 [NCBI36]
Chr9:9p24.3-q21.12		 pathogenic
GRCh38/hg38 9p24.3-22.2(chr9:204193-16897580)x1 copy number loss See cases [RCV000135968] Chr9:204193..16897580 [GRCh38]
Chr9:204193..16897578 [GRCh37]
Chr9:194193..16887578 [NCBI36]
Chr9:9p24.3-22.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11298187)x1 copy number loss See cases [RCV000135935] Chr9:204104..11298187 [GRCh38]
Chr9:204104..11298187 [GRCh37]
Chr9:194104..11288187 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-q21.13(chr9:193412-74615913)x3 copy number gain See cases [RCV000135954] Chr9:193412..74615913 [GRCh38]
Chr9:204193..77230829 [GRCh37]
Chr9:194193..76420649 [NCBI36]
Chr9:9p24.3-q21.13		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:214367-16307944)x1 copy number loss See cases [RCV000136859] Chr9:214367..16307944 [GRCh38]
Chr9:214367..16307942 [GRCh37]
Chr9:204367..16297942 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204193-11435662)x1 copy number loss See cases [RCV000136966] Chr9:204193..11435662 [GRCh38]
Chr9:204193..11435662 [GRCh37]
Chr9:194193..11425662 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.2-24.1(chr9:4152060-8518353)x1 copy number loss See cases [RCV000136787] Chr9:4152060..8518353 [GRCh38]
Chr9:4152060..8518353 [GRCh37]
Chr9:4142060..8508353 [NCBI36]
Chr9:9p24.2-24.1		 pathogenic
GRCh38/hg38 9p24.2-23(chr9:3591159-9361786)x3 copy number gain See cases [RCV000136729] Chr9:3591159..9361786 [GRCh38]
Chr9:3591159..9361786 [GRCh37]
Chr9:3581159..9351786 [NCBI36]
Chr9:9p24.2-23		 pathogenic
GRCh38/hg38 9p24.1-21.2(chr9:4661872-27661572)x3 copy number gain See cases [RCV000136680] Chr9:4661872..27661572 [GRCh38]
Chr9:4661872..27661570 [GRCh37]
Chr9:4651872..27651570 [NCBI36]
Chr9:9p24.1-21.2		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-14182668)x1 copy number loss See cases [RCV000137669] Chr9:204104..14182668 [GRCh38]
Chr9:204104..14182667 [GRCh37]
Chr9:194104..14172667 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-8266492)x1 copy number loss See cases [RCV000137455] Chr9:204104..8266492 [GRCh38]
Chr9:204104..8266492 [GRCh37]
Chr9:194104..8256492 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-11610300)x3 copy number gain See cases [RCV000137382] Chr9:204104..11610300 [GRCh38]
Chr9:204104..11610300 [GRCh37]
Chr9:194104..11600300 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1 copy number loss See cases [RCV000137376] Chr9:204104..5695507 [GRCh38]
Chr9:204104..5695507 [GRCh37]
Chr9:194104..5685507 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-5657733)x1 copy number loss See cases [RCV000138118] Chr9:204104..5657733 [GRCh38]
Chr9:204104..5657733 [GRCh37]
Chr9:194104..5647733 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204104-10023901)x1 copy number loss See cases [RCV000138119] Chr9:204104..10023901 [GRCh38]
Chr9:204104..10023901 [GRCh37]
Chr9:194104..10013901 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:204104-7133443)x1 copy number loss See cases [RCV000137745] Chr9:204104..7133443 [GRCh38]
Chr9:204104..7133443 [GRCh37]
Chr9:194104..7123443 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-66233120)x4 copy number gain See cases [RCV000137888] Chr9:204104..66233120 [GRCh38]
Chr9:204104..47212321 [GRCh37]
Chr9:194104..47002141 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3 copy number gain See cases [RCV000138783] Chr9:193412..138124524 [GRCh38]
Chr9:204090..141018976 [GRCh37]
Chr9:194090..140138797 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.3(chr9:459131-24207894)x3 copy number gain See cases [RCV000138499] Chr9:459131..24207894 [GRCh38]
Chr9:459131..24207892 [GRCh37]
Chr9:449131..24197892 [NCBI36]
Chr9:9p24.3-21.3		 pathogenic
GRCh38/hg38 9p24.3-q21.11(chr9:204104-67549861)x3 copy number gain See cases [RCV000139208] Chr9:204104..67549861 [GRCh38]
Chr9:204104..66516698 [GRCh37]
Chr9:194104..66256518 [NCBI36]
Chr9:9p24.3-q21.11		 pathogenic
GRCh38/hg38 9p24.3-13.3(chr9:204104-34151476)x3 copy number gain See cases [RCV000139015] Chr9:204104..34151476 [GRCh38]
Chr9:204104..34151474 [GRCh37]
Chr9:194104..34141474 [NCBI36]
Chr9:9p24.3-13.3		 pathogenic|likely benign
GRCh38/hg38 9p24.3-13.1(chr9:204104-38768294)x3 copy number gain See cases [RCV000139126] Chr9:204104..38768294 [GRCh38]
Chr9:204104..38768291 [GRCh37]
Chr9:194104..38758291 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000138962] Chr9:193412..138159073 [GRCh38]
Chr9:204104..141053525 [GRCh37]
Chr9:194104..140173346 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 9p24.3-24.1(chr9:204104-6322471)x1 copy number loss See cases [RCV000140410] Chr9:204104..6322471 [GRCh38]
Chr9:204104..6322471 [GRCh37]
Chr9:194104..6312471 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:204090-9282864)x1 copy number loss See cases [RCV000139566] Chr9:204090..9282864 [GRCh38]
Chr9:204090..9282864 [GRCh37]
Chr9:194090..9272864 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-21.2(chr9:204104-27963369)x3 copy number gain See cases [RCV000139621] Chr9:204104..27963369 [GRCh38]
Chr9:204104..27963367 [GRCh37]
Chr9:194104..27953367 [NCBI36]
Chr9:9p24.3-21.2		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:185579-7635806)x1 copy number loss See cases [RCV000141407] Chr9:185579..7635806 [GRCh38]
Chr9:185579..7635806 [GRCh37]
Chr9:175579..7625806 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-23(chr9:211086-11457340)x1 copy number loss See cases [RCV000141408] Chr9:211086..11457340 [GRCh38]
Chr9:211086..11457340 [GRCh37]
Chr9:201086..11447340 [NCBI36]
Chr9:9p24.3-23		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:211086-7444397)x1 copy number loss See cases [RCV000140601] Chr9:211086..7444397 [GRCh38]
Chr9:211086..7444397 [GRCh37]
Chr9:201086..7434397 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-q22.1(chr9:203861-88130444)x4 copy number gain See cases [RCV000141904] Chr9:203861..88130444 [GRCh38]
Chr9:203861..90745359 [GRCh37]
Chr9:193861..89935179 [NCBI36]
Chr9:9p24.3-q22.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3 copy number gain See cases [RCV000141876] Chr9:203861..138125937 [GRCh38]
Chr9:203861..141020389 [GRCh37]
Chr9:193861..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-21.1(chr9:203861-31423873)x4 copy number gain See cases [RCV000141662] Chr9:203861..31423873 [GRCh38]
Chr9:203861..31423871 [GRCh37]
Chr9:193861..31413871 [NCBI36]
Chr9:9p24.3-21.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:322690-16401656)x1 copy number loss See cases [RCV000141442] Chr9:322690..16401656 [GRCh38]
Chr9:322690..16401654 [GRCh37]
Chr9:312690..16391654 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:203861-8172957)x1 copy number loss See cases [RCV000142074] Chr9:203861..8172957 [GRCh38]
Chr9:203861..8172957 [GRCh37]
Chr9:193861..8162957 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-22.3(chr9:204090-15260600)x1 copy number loss See cases [RCV000142964] Chr9:204090..15260600 [GRCh38]
Chr9:204090..15260598 [GRCh37]
Chr9:194090..15250598 [NCBI36]
Chr9:9p24.3-22.3		 pathogenic
GRCh38/hg38 9p24.3-q21.31(chr9:193412-79877816)x3 copy number gain See cases [RCV000143012] Chr9:193412..79877816 [GRCh38]
Chr9:204104..82492731 [GRCh37]
Chr9:194104..81682551 [NCBI36]
Chr9:9p24.3-q21.31		 pathogenic
GRCh38/hg38 9p24.3-24.1(chr9:220253-7733826)x1 copy number loss See cases [RCV000142688] Chr9:220253..7733826 [GRCh38]
Chr9:220253..7733826 [GRCh37]
Chr9:210253..7723826 [NCBI36]
Chr9:9p24.3-24.1		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:203861-38381642) copy number gain See cases [RCV000143411] Chr9:203861..38381642 [GRCh38]
Chr9:203861..38381639 [GRCh37]
Chr9:193861..38371639 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3 copy number gain See cases [RCV000143476] Chr9:203862..138125937 [GRCh38]
Chr9:203862..141020389 [GRCh37]
Chr9:193862..140140210 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3 copy number gain See cases [RCV000148113] Chr9:193412..138179445 [GRCh38]
Chr9:204193..141073897 [GRCh37]
Chr9:194193..140193718 [NCBI36]
Chr9:9p24.3-q34.3		 pathogenic
GRCh38/hg38 9p24.3-13.1(chr9:204193-38815478)x3 copy number gain See cases [RCV000148159] Chr9:204193..38815478 [GRCh38]
Chr9:204193..38815475 [GRCh37]
Chr9:194193..38805475 [NCBI36]
Chr9:9p24.3-13.1		 pathogenic
GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3 copy number gain See cases [RCV000139207] Chr9:193412..138159073 [GRCh38]
Chr9:68420641..141053525 [GRCh37]
Chr9:67910461..140173346 [NCBI36]
Chr9:9p11.2-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:163131-38763958)x3 copy number gain See cases [RCV000240201] Chr9:163131..38763958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:13997-11376705)x1 copy number loss See cases [RCV000239799] Chr9:13997..11376705 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:4287179-5579213)x3 copy number gain Premature ovarian failure [RCV000225326] Chr9:4287179..5579213 [GRCh37]
Chr9:9p24.2-24.1		 benign
GRCh37/hg19 9p24.3-11.2(chr9:213161-47212321)x4 copy number gain See cases [RCV000240048] Chr9:213161..47212321 [GRCh37]
Chr9:9p24.3-11.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:213161-39092820)x3 copy number gain See cases [RCV000239869] Chr9:213161..39092820 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3 copy number gain See cases [RCV000240081] Chr9:163131..141122114 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:213161-19450250)x3 copy number gain See cases [RCV000240225] Chr9:213161..19450250 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68188391)x4 copy number gain See cases [RCV000449165] Chr9:203861..68188391 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407) copy number gain See cases [RCV000449375] Chr9:62525..141006407 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277)x1 copy number loss See cases [RCV000446597] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:32396-39140211) copy number gain See cases [RCV000447246] Chr9:32396..39140211 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152)x1 copy number loss See cases [RCV000447358] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain See cases [RCV000446521] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16925108)x1 copy number loss See cases [RCV000447415] Chr9:203861..16925108 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268)x1 copy number loss See cases [RCV000447144] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16670878)x1 copy number loss See cases [RCV000446566] Chr9:203861..16670878 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3 copy number gain See cases [RCV000447207] Chr9:203861..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907)x1 copy number loss See cases [RCV000445963] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1 copy number loss See cases [RCV000445998] Chr9:213161..17496750 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732)x1 copy number loss See cases [RCV000448147] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.1(chr9:5346037-5452625)x1 copy number loss See cases [RCV000447887] Chr9:5346037..5452625 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462)x1 copy number loss See cases [RCV000448304] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883)x3 copy number gain See cases [RCV000448569] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203864-141020389)x3 copy number gain See cases [RCV000448978] Chr9:203864..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:13997-70919878)x4 copy number gain See cases [RCV000448242] Chr9:13997..70919878 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17125893)x1 copy number loss See cases [RCV000512122] Chr9:203861..17125893 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.2-22.3(chr9:4581369-14848338)x1 copy number loss See cases [RCV000510332] Chr9:4581369..14848338 [GRCh37]
Chr9:9p24.2-22.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-13486759)x1 copy number loss See cases [RCV000511432] Chr9:203861..13486759 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-17655298)x1 copy number loss See cases [RCV000510944] Chr9:203861..17655298 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain See cases [RCV000510864] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10700288)x3 copy number gain See cases [RCV000510843] Chr9:203861..10700288 [GRCh37]
Chr9:9p24.3-23		 likely pathogenic
GRCh37/hg19 9p24.3-11.2(chr9:204193-44259464)x4 copy number gain Syndromic hydrocephalus due to diffuse villous hyperplasia of choroid plexus [RCV000677299] Chr9:204193..44259464 [GRCh37]
Chr9:9p24.3-11.2		 likely pathogenic
GRCh37/hg19 9p24.3-q21.33(chr9:203861-88189913)x3 copy number gain See cases [RCV000512431] Chr9:203861..88189913 [GRCh37]
Chr9:9p24.3-q21.33		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389) copy number gain See cases [RCV000512392] Chr9:203862..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1 copy number loss not provided [RCV000683162] Chr9:203861..7007586 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9924905)x1 copy number loss not provided [RCV000683166] Chr9:203861..9924905 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11271239)x1 copy number loss not provided [RCV000683167] Chr9:203861..11271239 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14744606)x1 copy number loss not provided [RCV000683168] Chr9:203861..14744606 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480)x3 copy number gain not provided [RCV000683172] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.1(chr9:5449153-5900427)x1 copy number loss not provided [RCV000683121] Chr9:5449153..5900427 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70985795)x4 copy number gain not provided [RCV000683175] Chr9:203861..70985795 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9306658)x1 copy number loss not provided [RCV000683164] Chr9:203861..9306658 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:203861-20653468)x3 copy number gain not provided [RCV000683170] Chr9:203861..20653468 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-21.2(chr9:203861-26397133)x3 copy number gain not provided [RCV000683171] Chr9:203861..26397133 [GRCh37]
Chr9:9p24.3-21.2		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67983174)x4 copy number gain not provided [RCV000683173] Chr9:203861..67983174 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-68262804)x3,4 copy number gain not provided [RCV000683174] Chr9:203861..68262804 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-q21.12(chr9:203861-72717793)x3 copy number gain not provided [RCV000683176] Chr9:203861..72717793 [GRCh37]
Chr9:9p24.3-q21.12		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3 copy number gain not provided [RCV000845900] Chr9:203861..141020388 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141122247)x3 copy number gain not provided [RCV000748055] Chr9:10590..141122247 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141107672)x3 copy number gain not provided [RCV000748053] Chr9:10590..141107672 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:46587-5486856)x1 copy number loss not provided [RCV000748059] Chr9:46587..5486856 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-12532584)x1 copy number loss not provided [RCV000748060] Chr9:46587..12532584 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:46587-13708607)x1 copy number loss not provided [RCV000748061] Chr9:46587..13708607 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-21.3(chr9:46587-22012051)x3 copy number gain not provided [RCV000748062] Chr9:46587..22012051 [GRCh37]
Chr9:9p24.3-21.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:46587-141066491)x3 copy number gain not provided [RCV000748063] Chr9:46587..141066491 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:10590-141114095)x2 copy number gain not provided [RCV000748054] Chr9:10590..141114095 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.2-21.3(chr9:4420767-22195820)x3 copy number gain not provided [RCV000748122] Chr9:4420767..22195820 [GRCh37]
Chr9:9p24.2-21.3		 pathogenic
GRCh37/hg19 9p24.1(chr9:5381870-5523773)x3 copy number gain not provided [RCV000748142] Chr9:5381870..5523773 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-13.1(chr9:214309-39156958) copy number gain not provided [RCV000767644] Chr9:214309..39156958 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-q13(chr9:203861-67986965)x3 copy number gain not provided [RCV000845815] Chr9:203861..67986965 [GRCh37]
Chr9:9p24.3-q13		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:203861-19448473)x3 copy number gain not provided [RCV000845664] Chr9:203861..19448473 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14103730)x1 copy number loss not provided [RCV001006165] Chr9:203861..14103730 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_014143.4(CD274):c.363C>A (p.Ala121=) single nucleotide variant not provided [RCV000914224] Chr9:5457389 [GRCh38]
Chr9:5457389 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-22.2(chr9:203861-17789410)x1 copy number loss not provided [RCV001006163] Chr9:203861..17789410 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.1(chr9:4613939-6144065)x1 copy number loss not provided [RCV001006191] Chr9:4613939..6144065 [GRCh37]
Chr9:9p24.1		 uncertain significance
GRCh37/hg19 9p24.3-13.1(chr9:203861-38472979)x3 copy number gain not provided [RCV000848175] Chr9:203861..38472979 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-10666419)x1 copy number loss not provided [RCV001006164] Chr9:203861..10666419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-14080419)x1 copy number loss not provided [RCV001006166] Chr9:203861..14080419 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11033228)x1 copy number loss not provided [RCV000848063] Chr9:203861..11033228 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11028975)x1 copy number loss not provided [RCV000848089] Chr9:203861..11028975 [GRCh37]
Chr9:9p24.3-23		 pathogenic
NM_014143.4(CD274):c.198A>G (p.Gln66=) single nucleotide variant not provided [RCV000975204] Chr9:5457224 [GRCh38]
Chr9:5457224 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-22.2(chr9:204193-18073357)x1 copy number loss Chromosome 9p deletion syndrome [RCV001263225] Chr9:204193..18073357 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
NM_014143.4(CD274):c.*93G>A single nucleotide variant not provided [RCV001657662] Chr9:5467955 [GRCh38]
Chr9:5467955 [GRCh37]
Chr9:9p24.1		 benign
NM_014143.4(CD274):c.*2635A>G single nucleotide variant not provided [RCV001650442] Chr9:5470497 [GRCh38]
Chr9:5470497 [GRCh37]
Chr9:9p24.1		 benign
Single allele single nucleotide variant not provided [RCV001685116] Chr9:5450497 [GRCh38]
Chr9:5450497 [GRCh37]
Chr9:9p24.1		 benign
GRCh37/hg19 9p24.3-q21.11(chr9:203861-70984588)x3 copy number gain not provided [RCV001006167] Chr9:203861..70984588 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-22.1(chr9:204193-18654812) copy number loss Trigonocephaly [RCV001352660] Chr9:204193..18654812 [GRCh37]
Chr9:9p24.3-22.1		 pathogenic
GRCh37/hg19 9p24.2-24.1(chr9:2854435-6937677) copy number gain Global developmental delay [RCV001352644] Chr9:2854435..6937677 [GRCh37]
Chr9:9p24.2-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-5909152) copy number loss not specified [RCV002053808] Chr9:203861..5909152 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-7759331) copy number loss not specified [RCV002053809] Chr9:203861..7759331 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-24.1(chr9:203861-8735462) copy number loss not specified [RCV002053810] Chr9:203861..8735462 [GRCh37]
Chr9:9p24.3-24.1		 pathogenic
GRCh37/hg19 9p24.3-13.1(chr9:203861-38787480) copy number gain not specified [RCV002053818] Chr9:203861..38787480 [GRCh37]
Chr9:9p24.3-13.1		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-9631665) copy number loss not specified [RCV002053811] Chr9:203861..9631665 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-q21.11(chr9:203861-69002883) copy number gain not specified [RCV002053819] Chr9:203861..69002883 [GRCh37]
Chr9:9p24.3-q21.11		 pathogenic
GRCh37/hg19 9p24.3-q21.32(chr9:203861-84155399) copy number gain not specified [RCV002053820] Chr9:203861..84155399 [GRCh37]
Chr9:9p24.3-q21.32		 pathogenic
GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389) copy number gain not specified [RCV002053823] Chr9:353349..141020389 [GRCh37]
Chr9:9p24.3-q34.3		 pathogenic
GRCh37/hg19 9p24.3-13.3(chr9:676264-33743670) copy number gain not specified [RCV002053827] Chr9:676264..33743670 [GRCh37]
Chr9:9p24.3-13.3		 pathogenic
GRCh37/hg19 9p24.3-23(chr9:203861-11414732) copy number loss not specified [RCV002053812] Chr9:203861..11414732 [GRCh37]
Chr9:9p24.3-23		 pathogenic
GRCh37/hg19 9p24.3-22.2(chr9:203861-16856907) copy number loss not specified [RCV002053817] Chr9:203861..16856907 [GRCh37]
Chr9:9p24.3-22.2		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14322268) copy number loss not specified [RCV002053814] Chr9:203861..14322268 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-14694074) copy number loss not specified [RCV002053815] Chr9:203861..14694074 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic
GRCh37/hg19 9p24.3-22.3(chr9:203861-15211277) copy number loss not specified [RCV002053816] Chr9:203861..15211277 [GRCh37]
Chr9:9p24.3-22.3		 pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:17635 AgrOrtholog
COSMIC CD274 COSMIC
Ensembl Genes ENSG00000120217 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000370985 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000370989 ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000381573 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000381577 ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH 2.60.40.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000120217 GTEx
HGNC ID HGNC:17635 ENTREZGENE
Human Proteome Map CD274 Human Proteome Map
InterPro CD80_C2-set UniProtKB/Swiss-Prot
  Ig-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig-like_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ig_sub UniProtKB/Swiss-Prot
  Ig_V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:29126 UniProtKB/Swiss-Prot
NCBI Gene 29126 ENTREZGENE
OMIM 605402 OMIM
Pfam C2-set_2 UniProtKB/Swiss-Prot
  V-set UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134915280 PharmGKB
PROSITE IG_LIKE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00409 UniProtKB/Swiss-Prot
Superfamily-SCOP SSF48726 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt PD1L1_HUMAN UniProtKB/Swiss-Prot
  Q0GN75 ENTREZGENE, UniProtKB/TrEMBL
  Q9NZQ7 ENTREZGENE
UniProt Secondary B2RBA2 UniProtKB/Swiss-Prot
  B4DU27 UniProtKB/Swiss-Prot
  Q14CJ2 UniProtKB/Swiss-Prot
  Q2V8D5 UniProtKB/Swiss-Prot
  Q66RK1 UniProtKB/Swiss-Prot
  Q6WEX4 UniProtKB/Swiss-Prot
  Q9NUZ5 UniProtKB/Swiss-Prot