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Gene: TNFRSF8 (TNF receptor superfamily member 8) Homo sapiens

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Symbol:

TNFRSF8

Name:

TNF receptor superfamily member 8

RGD ID:

737226

HGNC Page

HGNC:11923

Description:

Enables protease binding activity. Involved in cellular response to mechanical stimulus; positive regulation of apoptotic process; and positive regulation of tumor necrosis factor superfamily cytokine production. Located in nucleoplasm and plasma membrane.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

CD30; CD30 antigen; CD30L receptor; cytokine receptor CD30; D1S166E; Ki-1; Ki-1 antigen; lymphocyte activation antigen CD30; tumor necrosis factor receptor superfamily member 8; tumor necrosis factor receptor superfamily, member 8

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	12,063,303 - 12,144,207 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	12,123,360 - 12,204,264 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	12,046,021 - 12,126,851 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	12,120,221 - 12,138,528	NCBI
Celera	1	11,236,734 - 11,317,553 (+)	NCBI		Celera
Cytogenetic Map	1	p36.22	NCBI
HuRef	1	11,277,612 - 11,357,523 (+)	NCBI		HuRef
CHM1_1	1	12,111,329 - 12,192,169 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	diabetes mellitus		ISO	Tnfrsf8 (Mus musculus)	2312735		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	Charcot-Marie-Tooth disease type 2		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 2	ClinVar	PMID:28492532
TNFRSF8	Human	chromosome 1p36 deletion syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Chromosome 1p36 deletion syndrome	ClinVar
TNFRSF8	Human	nonprogressive cerebellar ataxia with mental retardation		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Cerebellar dysfunction with variable cognitive and behavioral abnormalities	ClinVar	PMID:25741868
TNFRSF8	Human	prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malignant tumor of prostate	ClinVar	PMID:23265383

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	AIDS-Related Opportunistic Infections		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9379333
TNFRSF8	Human	anaplastic large cell lymphoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:10908157 and PMID:17261581
TNFRSF8	Human	chronic obstructive pulmonary disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29984229
TNFRSF8	Human	dilated cardiomyopathy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12031769
TNFRSF8	Human	embryonal carcinoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9111512
TNFRSF8	Human	Emphysema		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:29984229
TNFRSF8	Human	gingivitis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9379333
TNFRSF8	Human	graft-versus-host disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:15322151
TNFRSF8	Human	Graves' disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16372246
TNFRSF8	Human	Hashimoto Disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:16372246
TNFRSF8	Human	Hemorrhage		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:29984229
TNFRSF8	Human	Hodgkin's lymphoma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:7621881 more ...
TNFRSF8	Human	human immunodeficiency virus infectious disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:8811349
TNFRSF8	Human	Infectious Ectromelia		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:12235215
TNFRSF8	Human	malignant mesothelioma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:23056237
TNFRSF8	Human	Mycobacterium Infections		EXP		11554173	CTD Direct Evidence: therapeutic	CTD	PMID:15316035
TNFRSF8	Human	myocarditis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:12031769
TNFRSF8	Human	viral infectious disease		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:9826579 and PMID:12031769

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	(+)-catechin	decreases expression	EXP		6480464	Catechin results in decreased expression of TNFRSF8 mRNA	CTD	PMID:15465739
TNFRSF8	Human	(+)-catechin	multiple interactions	EXP		6480464	Catechin inhibits the reaction [[4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone co-treated with Benzo(a)pyrene] results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:21882252
TNFRSF8	Human	2,2',4,4',5,5'-hexachlorobiphenyl	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
TNFRSF8	Human	2,2',5,5'-tetrachlorobiphenyl	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
TNFRSF8	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	EXP		6480464	Tetrachlorodibenzodioxin results in increased expression of TNFRSF8 mRNA	CTD	PMID:11007951
TNFRSF8	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of TNFRSF8 mRNA	CTD	PMID:14718646 more ...
TNFRSF8	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	EXP		6480464	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of TNFRSF8 mRNA]	CTD	PMID:11007951
TNFRSF8	Human	4,4'-sulfonyldiphenol	decreases methylation	EXP		6480464	bisphenol S results in decreased methylation of TNFRSF8 gene	CTD	PMID:31601247
TNFRSF8	Human	4-(N-nitrosomethylamino)-1-(3-pyridyl)butan-1-one	multiple interactions	EXP		6480464	[4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone co-treated with Benzo(a)pyrene] results in decreased expression of TNFRSF8 mRNA and Catechin inhibits the reaction [[4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone co-treated with Benzo(a)pyrene] results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:21882252
TNFRSF8	Human	4-aminobenzhydrazide	multiple interactions	EXP		6480464	4-aminobenzhydrazide inhibits the reaction [hydroxyhydroquinone results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:24530881
TNFRSF8	Human	acetamide	increases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	acetamide results in increased expression of TNFRSF8 mRNA	CTD	PMID:31881176
TNFRSF8	Human	all-trans-retinoic acid	decreases expression	EXP		6480464	Tretinoin results in decreased expression of TNFRSF8 protein	CTD	PMID:12441127
TNFRSF8	Human	ammonium chloride	affects expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of TNFRSF8 mRNA	CTD	PMID:16483693
TNFRSF8	Human	aphidicolin	increases expression	EXP		6480464	Aphidicolin results in increased expression of TNFRSF8 protein	CTD	PMID:12441127
TNFRSF8	Human	aripiprazole	multiple interactions	EXP		6480464	[Aripiprazole co-treated with Ozone] results in increased expression of TNFRSF8 mRNA	CTD	PMID:31476115
TNFRSF8	Human	arsane	increases expression	EXP		6480464	Arsenic results in increased expression of TNFRSF8 mRNA	CTD	PMID:19962721
TNFRSF8	Human	arsenic atom	increases expression	EXP		6480464	Arsenic results in increased expression of TNFRSF8 mRNA	CTD	PMID:19962721
TNFRSF8	Human	arsenite(3-)	increases methylation	EXP		6480464	arsenite results in increased methylation of TNFRSF8 promoter	CTD	PMID:23974009
TNFRSF8	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of TNFRSF8 mRNA	CTD	PMID:22521957
TNFRSF8	Human	arsenous acid	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Arsenic Trioxide results in decreased expression of TNFRSF8 mRNA	CTD	PMID:19730151
TNFRSF8	Human	benzene-1,2,4-triol	multiple interactions	EXP		6480464	4-aminobenzhydrazide inhibits the reaction [hydroxyhydroquinone results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:24530881
TNFRSF8	Human	benzene-1,2,4-triol	decreases expression	EXP		6480464	hydroxyhydroquinone results in decreased expression of TNFRSF8 mRNA	CTD	PMID:24530881
TNFRSF8	Human	benzo[a]pyrene	increases mutagenesis	EXP		6480464	Benzo(a)pyrene results in increased mutagenesis of TNFRSF8 gene	CTD	PMID:25435355
TNFRSF8	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of TNFRSF8 3' UTR and Benzo(a)pyrene affects the methylation of TNFRSF8 promoter	CTD	PMID:27901495
TNFRSF8	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of TNFRSF8 5' UTR	CTD	PMID:27901495
TNFRSF8	Human	benzo[a]pyrene	multiple interactions	EXP		6480464	[4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone co-treated with Benzo(a)pyrene] results in decreased expression of TNFRSF8 mRNA and Catechin inhibits the reaction [[4-(N-methyl-N-nitrosamino)-1-(3-pyridyl)-1-butanone co-treated with Benzo(a)pyrene] results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:21882252
TNFRSF8	Human	benzo[a]pyrene	increases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Benzo(a)pyrene results in increased expression of TNFRSF8 protein	CTD	PMID:21467743
TNFRSF8	Human	bis(2-ethylhexyl) phthalate	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[Streptozocin co-treated with Dietary Fats co-treated with Diethylhexyl Phthalate] results in increased expression of TNFRSF8 mRNA and Diethylhexyl Phthalate promotes the reaction [[Streptozocin co-treated with Dietary Fats] results in increased expression of TNFRSF8 mRNA]	CTD	PMID:33484791
TNFRSF8	Human	bis(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	Diethylhexyl Phthalate results in decreased expression of TNFRSF8 mRNA	CTD	PMID:31163220
TNFRSF8	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of TNFRSF8 mRNA	CTD	PMID:33484791
TNFRSF8	Human	bisphenol A	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of TNFRSF8 mRNA	CTD	PMID:25181051
TNFRSF8	Human	cadmium dichloride	decreases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	Cadmium Chloride results in decreased expression of TNFRSF8 mRNA	CTD	PMID:15501611
TNFRSF8	Human	cadmium dichloride	decreases expression	EXP		6480464	Cadmium Chloride results in decreased expression of TNFRSF8 mRNA	CTD	PMID:12160620
TNFRSF8	Human	calcitriol	decreases expression	EXP		6480464	Calcitriol results in decreased expression of TNFRSF8 protein	CTD	PMID:12441127
TNFRSF8	Human	chlordecone	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	Chlordecone promotes the reaction [Biomarkers metabolite binds to TNFRSF8 gene]	CTD	PMID:31084621
TNFRSF8	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with Paclitaxel] results in decreased expression of TNFRSF8 mRNA	CTD	PMID:20705681
TNFRSF8	Human	cycloheximide	multiple interactions	EXP		6480464	Cycloheximide inhibits the reaction [Tetrachlorodibenzodioxin results in increased expression of TNFRSF8 mRNA]	CTD	PMID:11007951
TNFRSF8	Human	dextran sulfate	affects response to substance	ISO	Tnfrsf8 (Mus musculus)	6480464	TNFRSF8 protein affects the susceptibility to Dextran Sulfate	CTD	PMID:21068411
TNFRSF8	Human	dextran sulfate	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[TNFRSF8 protein affects the susceptibility to Dextran Sulfate] which affects the expression of IL1B protein more ...	CTD	PMID:21068411
TNFRSF8	Human	diarsenic trioxide	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Arsenic Trioxide results in decreased expression of TNFRSF8 mRNA	CTD	PMID:19730151
TNFRSF8	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of TNFRSF8 mRNA	CTD	PMID:22521957
TNFRSF8	Human	dioxygen	multiple interactions	EXP		6480464	[TNFRSF8 protein co-treated with Oxygen deficiency] results in decreased secretion of MMP2 protein	CTD	PMID:29984229
TNFRSF8	Human	dorsomorphin	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNFRSF8 mRNA	CTD	PMID:27188386
TNFRSF8	Human	entinostat	increases expression	EXP		6480464	entinostat results in increased expression of TNFRSF8 mRNA	CTD	PMID:26272509
TNFRSF8	Human	entinostat	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNFRSF8 mRNA	CTD	PMID:27188386
TNFRSF8	Human	ethanol	multiple interactions	EXP		6480464	Ethanol promotes the reaction [FOXO3 protein results in increased expression of TNFRSF8 mRNA]	CTD	PMID:26470730
TNFRSF8	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of TNFRSF8 mRNA	CTD	PMID:23649840
TNFRSF8	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of TNFRSF8 protein	CTD	PMID:37730182
TNFRSF8	Human	furosemide	affects expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Furosemide affects the expression of TNFRSF8 mRNA	CTD	PMID:17497460
TNFRSF8	Human	genistein	multiple interactions	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	[Genistein co-treated with Methoxychlor] results in decreased expression of TNFRSF8 mRNA	CTD	PMID:21782745
TNFRSF8	Human	isoflurane	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Isoflurane results in decreased expression of TNFRSF8 mRNA	CTD	PMID:16978161
TNFRSF8	Human	lipopolysaccharide	increases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	Lipopolysaccharides results in increased expression of TNFRSF8 mRNA	CTD	PMID:12057914
TNFRSF8	Human	methoxychlor	multiple interactions	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	[Genistein co-treated with Methoxychlor] results in decreased expression of TNFRSF8 mRNA	CTD	PMID:21782745
TNFRSF8	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of TNFRSF8 mRNA	CTD	PMID:23649840
TNFRSF8	Human	mono(2-ethylhexyl) phthalate	decreases expression	EXP		6480464	mono-(2-ethylhexyl)phthalate results in decreased expression of TNFRSF8 mRNA	CTD	PMID:36695872
TNFRSF8	Human	nitroglycerin	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Nitroglycerin results in decreased expression of TNFRSF8 mRNA	CTD	PMID:12102619
TNFRSF8	Human	ozone	multiple interactions	EXP		6480464	[Aripiprazole co-treated with Ozone] results in increased expression of TNFRSF8 mRNA	CTD	PMID:31476115
TNFRSF8	Human	ozone	increases expression	EXP		6480464	Ozone results in increased expression of TNFRSF8 mRNA	CTD	PMID:31476115
TNFRSF8	Human	p-menthan-3-ol	decreases expression	EXP		6480464	Menthol results in decreased expression of TNFRSF8 mRNA	CTD	PMID:26760959
TNFRSF8	Human	paclitaxel	multiple interactions	EXP		6480464	[Cisplatin co-treated with Paclitaxel] results in decreased expression of TNFRSF8 mRNA	CTD	PMID:20705681
TNFRSF8	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of TNFRSF8 mRNA	CTD	PMID:22230336
TNFRSF8	Human	paraquat	increases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Paraquat results in increased expression of TNFRSF8 mRNA	CTD	PMID:18198484
TNFRSF8	Human	paraquat	decreases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Paraquat results in decreased expression of TNFRSF8 mRNA	CTD	PMID:32680482
TNFRSF8	Human	PCB138	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[2 more ...	CTD	PMID:25510870
TNFRSF8	Human	phorbol 13-acetate 12-myristate	increases expression	EXP		6480464	Tetradecanoylphorbol Acetate results in increased expression of TNFRSF8 mRNA	CTD	PMID:9933429
TNFRSF8	Human	pirinixic acid	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	NCF1 protein promotes the reaction [pirinixic acid results in decreased expression of TNFRSF8 mRNA]	CTD	PMID:17950772
TNFRSF8	Human	pirinixic acid	decreases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	pirinixic acid results in decreased expression of TNFRSF8 mRNA	CTD	PMID:17950772
TNFRSF8	Human	quinidine	decreases expression	EXP		6480464	Quinidine results in decreased expression of TNFRSF8 protein	CTD	PMID:12441127
TNFRSF8	Human	SB 431542	multiple interactions	EXP		6480464	[NOG protein co-treated with entinostat co-treated with dorsomorphin co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide] results in increased expression of TNFRSF8 mRNA	CTD	PMID:27188386
TNFRSF8	Human	silicon dioxide	increases expression	ISO	Tnfrsf8 (Rattus norvegicus)	6480464	Silicon Dioxide results in increased expression of TNFRSF8 mRNA	CTD	PMID:32721576
TNFRSF8	Human	sodium arsenite	decreases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	sodium arsenite results in decreased expression of TNFRSF8 mRNA	CTD	PMID:37682722
TNFRSF8	Human	streptozocin	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[Streptozocin co-treated with Dietary Fats co-treated with Diethylhexyl Phthalate] results in increased expression of TNFRSF8 mRNA more ...	CTD	PMID:33484791
TNFRSF8	Human	trichloroethene	decreases expression	EXP		6480464	Trichloroethylene results in decreased expression of TNFRSF8 protein	CTD	PMID:20530238
TNFRSF8	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of TNFRSF8 mRNA	CTD	PMID:37042841
TNFRSF8	Human	triptonide	increases expression	ISO	Tnfrsf8 (Mus musculus)	6480464	triptonide results in increased expression of TNFRSF8 mRNA	CTD	PMID:33045310
TNFRSF8	Human	usnic acid	increases expression	EXP		6480464	usnic acid results in increased expression of TNFRSF8 mRNA	CTD	PMID:32508146
TNFRSF8	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of TNFRSF8 gene	CTD	PMID:29154799
TNFRSF8	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of TNFRSF8 mRNA	CTD	PMID:25979313
TNFRSF8	Human	zinc atom	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[Zinc deficiency promotes the reaction [TRP53 gene mutant form results in increased susceptibility to nitrosobenzylmethylamine]] which results in increased expression of TNFRSF8 mRNA	CTD	PMID:12517797
TNFRSF8	Human	zinc(0)	multiple interactions	ISO	Tnfrsf8 (Mus musculus)	6480464	[Zinc deficiency promotes the reaction [TRP53 gene mutant form results in increased susceptibility to nitrosobenzylmethylamine]] which results in increased expression of TNFRSF8 mRNA	CTD	PMID:12517797

Biological Process

Only show annotations with direct experimental evidence (0 objects hidden)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	cellular response to mechanical stimulus	involved_in	IEP		150520179	PMID:19593445	UniProt	PMID:19593445
TNFRSF8	Human	negative regulation of cell population proliferation	involved_in	TAS		150520179	PMID:10192335	PINC	PMID:10192335
TNFRSF8	Human	positive regulation of apoptotic process	involved_in	IDA		150520179	PMID:16108830	UniProt	PMID:16108830
TNFRSF8	Human	positive regulation of NF-kappaB transcription factor activity		ISO	Tnfrsf8 (Rattus norvegicus)	9068941		RGD	PMID:8982082 and REF_RGD_ID:730027
TNFRSF8	Human	positive regulation of TRAIL production	involved_in	IDA		150520179	PMID:16108830	UniProt	PMID:16108830
TNFRSF8	Human	positive regulation of tumor necrosis factor production	involved_in	IDA		150520179	PMID:16108830	UniProt	PMID:16108830
TNFRSF8	Human	signal transduction	involved_in	IEA	InterPro:IPR020416	150520179		InterPro	GO_REF:0000002
TNFRSF8	Human	signal transduction	involved_in	TAS		150520179	PMID:10192335	PINC	PMID:10192335

Cellular Component

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Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
TNFRSF8	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
TNFRSF8	Human	extracellular exosome	located_in	HDA		150520179	PMID:20458337	UniProt	PMID:20458337
TNFRSF8	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
TNFRSF8	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
TNFRSF8	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
TNFRSF8	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-8856189
TNFRSF8	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
TNFRSF8	Human	plasma membrane	located_in	IDA		150520179		HPA	GO_REF:0000052

Molecular Function

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Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	protease binding	enables	IPI	UniProtKB:P78325	150520179	PMID:12777399	BHF-UCL	PMID:12777399
TNFRSF8	Human	transmembrane signaling receptor activity	enables	TAS		150520179	PMID:1310894	PINC	PMID:1310894
TNFRSF8	Human	transmembrane signaling receptor activity	enables	IEA	InterPro:IPR020416	150520179		InterPro	GO_REF:0000002

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
TNFRSF8	Human	Prostate cancer		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Prostatic cancer	ClinVar	PMID:23265383

#	Reference Title	Reference Citation
1.	Molecular cloning and expression of a new member of the nerve growth factor receptor family that is characteristic for Hodgkin's disease.	Durkop H, etal., Cell 1992 Feb 7;68(3):421-7.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Signalling through CD30 protects against autoimmune diabetes mediated by CD8 T cells.	Kurts C, etal., Nature. 1999 Mar 25;398(6725):341-4.
4.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1330892	PMID:2537734	PMID:6754630	PMID:7527901	PMID:8183550	PMID:8627180	PMID:8662842	PMID:8839832	PMID:8999898	PMID:9104814	PMID:9168896	PMID:9353251
PMID:9511754	PMID:10518213	PMID:10641597	PMID:10764746	PMID:11728464	PMID:11754357	PMID:11891807	PMID:11918534	PMID:11960307	PMID:11971184	PMID:11986285	PMID:12091351
PMID:12165500	PMID:12389614	PMID:12477932	PMID:12553555	PMID:12557237	PMID:12568298	PMID:12648280	PMID:12777399	PMID:12799531	PMID:12875982	PMID:14726963	PMID:15026356
PMID:15033921	PMID:15050749	PMID:15175022	PMID:15265955	PMID:15291361	PMID:15301860	PMID:15356338	PMID:15644135	PMID:15782119	PMID:15876358	PMID:15880060	PMID:15919463
PMID:15964393	PMID:15990453	PMID:15996240	PMID:16108827	PMID:16108830	PMID:16147992	PMID:16244703	PMID:16372246	PMID:16378078	PMID:16641601	PMID:16651853	PMID:16722935
PMID:16771810	PMID:16842522	PMID:16980071	PMID:17103120	PMID:17106517	PMID:17175343	PMID:17175368	PMID:17241668	PMID:17557078	PMID:17616534	PMID:17853184	PMID:17853188
PMID:17889168	PMID:17912490	PMID:17965727	PMID:17973241	PMID:18047935	PMID:18049429	PMID:18165785	PMID:18187570	PMID:18201430	PMID:18320364	PMID:18365380	PMID:18589105
PMID:18689277	PMID:18714536	PMID:18793267	PMID:18926413	PMID:18983807	PMID:19010142	PMID:19032830	PMID:19040559	PMID:19100393	PMID:19100394	PMID:19126420	PMID:19131627
PMID:19243308	PMID:19415777	PMID:19540595	PMID:19593445	PMID:19641626	PMID:19765439	PMID:19773279	PMID:19782609	PMID:19862340	PMID:19890350	PMID:19898220	PMID:20036333
PMID:20061689	PMID:20166880	PMID:20237496	PMID:20353374	PMID:20379614	PMID:20430176	PMID:20458337	PMID:20568250	PMID:20591497	PMID:20600901	PMID:20600903	PMID:20620210
PMID:20625494	PMID:20631311	PMID:20814632	PMID:21181928	PMID:21186345	PMID:21261503	PMID:21376809	PMID:21505378	PMID:21860351	PMID:21873635	PMID:21986812	PMID:22182633
PMID:22193227	PMID:22369302	PMID:22446727	PMID:22451116	PMID:22472952	PMID:22628304	PMID:22715589	PMID:22759804	PMID:22940451	PMID:22966913	PMID:23028875	PMID:23039325
PMID:23079227	PMID:23119111	PMID:23244086	PMID:23268289	PMID:23333304	PMID:23343832	PMID:23477385	PMID:23503451	PMID:23545938	PMID:23654079	PMID:23716537	PMID:23716562
PMID:23790231	PMID:23797717	PMID:23857000	PMID:23928467	PMID:23937105	PMID:24111625	PMID:24375064	PMID:24492285	PMID:24659185	PMID:24733405	PMID:24733422	PMID:24745678
PMID:24747435	PMID:24805132	PMID:24805854	PMID:25135752	PMID:25145835	PMID:25248878	PMID:25275127	PMID:25288491	PMID:25349176	PMID:25492095	PMID:25548993	PMID:25567136
PMID:25568342	PMID:25698648	PMID:25840583	PMID:26261484	PMID:26273636	PMID:26340843	PMID:26371781	PMID:26439863	PMID:26574847	PMID:26703966	PMID:26709646	PMID:26884853
PMID:26970513	PMID:26981738	PMID:27105521	PMID:27146432	PMID:27521276	PMID:27816715	PMID:27870927	PMID:28122147	PMID:28341757	PMID:28427526	PMID:28486951	PMID:28514442
PMID:28521633	PMID:28802087	PMID:29126177	PMID:29470552	PMID:29666157	PMID:29889102	PMID:29984229	PMID:31523805	PMID:31752540	PMID:32037353	PMID:32337220	PMID:32803917
PMID:33306668	PMID:33480069	PMID:33961781	PMID:34655411	PMID:35384878	PMID:35789115	PMID:35906200	PMID:35999655	PMID:37170397	PMID:37290910	PMID:37377225	PMID:37638819
PMID:37986346	PMID:38211650	PMID:38213180	PMID:38287746

TNFRSF8
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	1	12,063,303 - 12,144,207 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	1	12,123,360 - 12,204,264 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	1	12,046,021 - 12,126,851 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	1	12,120,221 - 12,138,528	NCBI
Celera	1	11,236,734 - 11,317,553 (+)	NCBI		Celera
Cytogenetic Map	1	p36.22	NCBI
HuRef	1	11,277,612 - 11,357,523 (+)	NCBI		HuRef
CHM1_1	1	12,111,329 - 12,192,169 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI		T2T-CHM13v2.0

Tnfrsf8
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	4	144,993,702 - 145,041,734 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	4	144,993,707 - 145,041,734 (-)	Ensembl		GRCm39 Ensembl
GRCm38	4	145,267,132 - 145,315,164 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	4	145,267,137 - 145,315,164 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	4	144,858,879 - 144,905,050 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	4	144,535,663 - 144,581,834 (-)	NCBI		MGSCv36	mm8
Celera	4	146,859,235 - 146,903,716 (-)	NCBI		Celera
Cytogenetic Map	4	E1	NCBI
cM Map	4	78.17	NCBI

Tnfrsf8
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	5	162,406,387 - 162,451,620 (-)	NCBI		GRCr8
mRatBN7.2	5	157,123,183 - 157,168,421 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	5	157,123,185 - 157,168,421 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	5	159,825,817 - 159,871,349 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	5	161,599,104 - 161,644,643 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	5	161,555,455 - 161,600,991 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	5	163,186,349 - 163,231,578 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	5	163,186,349 - 163,231,578 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	5	166,864,886 - 166,910,671 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	5	163,716,462 - 163,762,235 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	5	163,726,649 - 163,772,415 (-)	NCBI
Celera	5	155,412,388 - 155,457,954 (-)	NCBI		Celera
RH 3.4 Map	5	1065.7	RGD
Cytogenetic Map	5	q36	NCBI

Tnfrsf8
(Chinchilla lanigera - long-tailed chinchilla)

Chinchilla Assembly	Chr	Position (strand)	Source	Genome Browsers
Chinchilla Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChiLan1.0	NW_004955486	1,839,642 - 1,910,080 (-)	NCBI	ChiLan1.0	ChiLan1.0

TNFRSF8
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
NHGRI_mPanPan1-v2	1	216,093,002 - 216,172,889 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	1	214,739,970 - 214,819,867 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	1	10,813,111 - 10,893,005 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	1	12,029,038 - 12,108,495 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	1	12,029,038 - 12,108,495 (+)	Ensembl	panpan1.1		panPan2

TNFRSF8
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	84,185,445 - 84,225,986 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	84,186,961 - 84,232,675 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	80,718,898 - 80,759,203 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	84,846,192 - 84,886,695 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	84,847,766 - 84,936,785 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	81,596,265 - 81,636,510 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	82,596,295 - 82,636,747 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	83,661,577 - 83,702,020 (-)	NCBI		UU_Cfam_GSD_1.0

Tnfrsf8
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HiC_Itri_2	NW_024405058	35,006,667 - 35,066,082 (+)	NCBI		HiC_Itri_2
SpeTri2.0	NW_004936474	814,510 - 889,851 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TNFRSF8
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1	6	72,103,309 - 72,174,882 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	66,086,273 - 66,128,007 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

TNFRSF8
(Chlorocebus sabaeus - green monkey)

Green Monkey Assembly	Chr	Position (strand)	Source	Genome Browsers
Green Monkey Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	20	119,656,183 - 119,736,151 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	20	119,657,614 - 119,715,078 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666054	23,512,780 - 23,552,347 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Tnfrsf8
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624818	957,597 - 996,565 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in TNFRSF8
64 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
NM_001243.4(TNFRSF8):c.268+2556C>G	single nucleotide variant	Lung cancer [RCV000089748]	Chr1:12099773 [GRCh38] Chr1:12159830 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.22-36.21(chr1:11654070-12768656)x3	copy number gain	See cases [RCV000051460]	Chr1:11654070..12768656 [GRCh38] Chr1:11714127..12828807 [GRCh37] Chr1:11636714..12751394 [NCBI36] Chr1:1p36.22-36.21	uncertain significance
GRCh38/hg38 1p36.22(chr1:11737130-12169786)x3	copy number gain	See cases [RCV000051461]	Chr1:11737130..12169786 [GRCh38] Chr1:11797187..12229843 [GRCh37] Chr1:11719774..12152430 [NCBI36] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.31-36.21(chr1:6652339-12724844)x3	copy number gain	See cases [RCV000051794]	Chr1:6652339..12724844 [GRCh38] Chr1:6712399..12784811 [GRCh37] Chr1:6634986..12707398 [NCBI36] Chr1:1p36.31-36.21	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6853513-17326813)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051795]\|See cases [RCV000051795]	Chr1:6853513..17326813 [GRCh38] Chr1:6913573..17685411 [GRCh37] Chr1:6836160..17557998 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:2963330-12666744)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053713]\|See cases [RCV000053713]	Chr1:2963330..12666744 [GRCh38] Chr1:2879895..12726755 [GRCh37] Chr1:2869755..12649342 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.32-36.13(chr1:3006193-17688934)x1	copy number loss	See cases [RCV000053714]	Chr1:3006193..17688934 [GRCh38] Chr1:2922757..18015429 [GRCh37] Chr1:2912617..17888016 [NCBI36] Chr1:1p36.32-36.13	pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-13111056)x1	copy number loss	See cases [RCV000053724]	Chr1:4898439..13111056 [GRCh38] Chr1:4958499..13178528 [GRCh37] Chr1:4858359..13101115 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.22-36.12(chr1:10556797-22557907)x1	copy number loss	See cases [RCV000053760]	Chr1:10556797..22557907 [GRCh38] Chr1:10616854..22884400 [GRCh37] Chr1:10539441..22756987 [NCBI36] Chr1:1p36.22-36.12	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10621776-16520709)x1	copy number loss	See cases [RCV000053763]	Chr1:10621776..16520709 [GRCh38] Chr1:10681833..16847204 [GRCh37] Chr1:10604420..16719791 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:10809039-16422500)x1	copy number loss	See cases [RCV000053765]	Chr1:10809039..16422500 [GRCh38] Chr1:10869096..16748995 [GRCh37] Chr1:10791683..16621582 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.22-36.13(chr1:11121625-16324498)x1	copy number loss	See cases [RCV000053766]	Chr1:11121625..16324498 [GRCh38] Chr1:11181682..16650993 [GRCh37] Chr1:11104269..16523580 [NCBI36] Chr1:1p36.22-36.13	pathogenic
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1	copy number loss	See cases [RCV000053755]	Chr1:7165036..13111056 [GRCh38] Chr1:7225096..13178528 [GRCh37] Chr1:7147683..13101115 [NCBI36] Chr1:1p36.23-36.21	pathogenic
GRCh38/hg38 1p36.23-36.13(chr1:9034671-16441465)x1	copy number loss	See cases [RCV000053756]	Chr1:9034671..16441465 [GRCh38] Chr1:9094730..16767960 [GRCh37] Chr1:9017317..16640547 [NCBI36] Chr1:1p36.23-36.13	pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:9406722-12852772)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053757]\|See cases [RCV000053757]	Chr1:9406722..12852772 [GRCh38] Chr1:9466781..12912625 [GRCh37] Chr1:9389368..12835212 [NCBI36] Chr1:1p36.22-36.21	pathogenic
NM_001243.4(TNFRSF8):c.643C>T (p.Pro215Ser)	single nucleotide variant	Malignant melanoma [RCV000064055]	Chr1:12110171 [GRCh38] Chr1:12170228 [GRCh37] Chr1:12092815 [NCBI36] Chr1:1p36.22	not provided
NM_001243.5(TNFRSF8):c.271G>T (p.Asp91Tyr)	single nucleotide variant	Malignant tumor of prostate [RCV000149113]	Chr1:12104381 [GRCh38] Chr1:12164438 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh38/hg38 1p36.23-36.21(chr1:9064492-12666744)x1	copy number loss	See cases [RCV000133779]	Chr1:9064492..12666744 [GRCh38] Chr1:9124551..12726755 [GRCh37] Chr1:9047138..12649342 [NCBI36] Chr1:1p36.23-36.21	pathogenic
GRCh38/hg38 1p36.23-36.22(chr1:8283694-12470133)x1	copy number loss	See cases [RCV000135807]	Chr1:8283694..12470133 [GRCh38] Chr1:8343754..12530188 [GRCh37] Chr1:8266341..12452775 [NCBI36] Chr1:1p36.23-36.22	pathogenic
GRCh38/hg38 1p36.33-36.22(chr1:844347-12470133)x1	copy number loss	See cases [RCV000136695]	Chr1:844347..12470133 [GRCh38] Chr1:779727..12530188 [GRCh37] Chr1:769590..12452775 [NCBI36] Chr1:1p36.33-36.22	pathogenic\|likely pathogenic
GRCh38/hg38 1p36.32-36.21(chr1:4898439-12911913)x1	copy number loss	See cases [RCV000137461]	Chr1:4898439..12911913 [GRCh38] Chr1:4958499..12971757 [GRCh37] Chr1:4858359..12894344 [NCBI36] Chr1:1p36.32-36.21	pathogenic
GRCh38/hg38 1p36.31-36.21(chr1:6303641-15799093)x1	copy number loss	See cases [RCV000137948]	Chr1:6303641..15799093 [GRCh38] Chr1:6363701..16125588 [GRCh37] Chr1:6286288..15998175 [NCBI36] Chr1:1p36.31-36.21	pathogenic\|likely benign
GRCh38/hg38 1p36.22-36.21(chr1:9428538-15815791)x1	copy number loss	See cases [RCV000140873]	Chr1:9428538..15815791 [GRCh38] Chr1:9488597..16142286 [GRCh37] Chr1:9411184..16014873 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:11021751-15236671)x3	copy number gain	See cases [RCV000141823]	Chr1:11021751..15236671 [GRCh38] Chr1:11081808..15563167 [GRCh37] Chr1:11004395..15435754 [NCBI36] Chr1:1p36.22-36.21	likely pathogenic
GRCh38/hg38 1p36.22-36.21(chr1:10264397-15780840)x1	copy number loss	See cases [RCV000141438]	Chr1:10264397..15780840 [GRCh38] Chr1:10324455..16107335 [GRCh37] Chr1:10247042..15979922 [NCBI36] Chr1:1p36.22-36.21	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:6554885-16056011)x3	copy number gain	See cases [RCV000142906]	Chr1:6554885..16056011 [GRCh38] Chr1:6614945..16382506 [GRCh37] Chr1:6537532..16255093 [NCBI36] Chr1:1p36.31-36.13	pathogenic
GRCh38/hg38 1p36.31-36.13(chr1:5363826-18360302)x1	copy number loss	See cases [RCV000142771]	Chr1:5363826..18360302 [GRCh38] Chr1:5423886..18686796 [GRCh37] Chr1:5323746..18559383 [NCBI36] Chr1:1p36.31-36.13	pathogenic
Single allele	complex	Breast ductal adenocarcinoma [RCV000207058]	Chr1:909238..24706269 [GRCh37] Chr1:1p36.33-36.11	uncertain significance
chr1:909238-16736132 complex variant	complex	Breast ductal adenocarcinoma [RCV000207094]	Chr1:909238..16736132 [GRCh37] Chr1:1p36.33-36.13	uncertain significance
NM_001243.5(TNFRSF8):c.1043C>T (p.Thr348Ile)	single nucleotide variant	not specified [RCV000238772]	Chr1:12123717 [GRCh38] Chr1:12183774 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.33-36.22(chr1:82154-12699337)x1	copy number loss	See cases [RCV000239416]	Chr1:82154..12699337 [GRCh37] Chr1:1p36.33-36.22	pathogenic
GRCh37/hg19 1p36.33-36.21(chr1:746608-15077159)x1	copy number loss	See cases [RCV000240403]	Chr1:746608..15077159 [GRCh37] Chr1:1p36.33-36.21	pathogenic
GRCh37/hg19 1p36.23-36.21(chr1:8255222-12785220)x3	copy number gain	See cases [RCV000240284]	Chr1:8255222..12785220 [GRCh37] Chr1:1p36.23-36.21	likely pathogenic
GRCh37/hg19 1p36.32-36.21(chr1:4558588-13187457)x1	copy number loss	See cases [RCV000446359]	Chr1:4558588..13187457 [GRCh37] Chr1:1p36.32-36.21	pathogenic
GRCh37/hg19 1p36.32-36.12(chr1:2749920-22564787)x1	copy number loss	See cases [RCV000446470]	Chr1:2749920..22564787 [GRCh37] Chr1:1p36.32-36.12	pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:10722955-12910774)x1	copy number loss	See cases [RCV000510444]	Chr1:10722955..12910774 [GRCh37] Chr1:1p36.22-36.21	likely pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11143298-13709344)x3	copy number gain	See cases [RCV000510407]	Chr1:11143298..13709344 [GRCh37] Chr1:1p36.22-36.21	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	copy number gain	See cases [RCV000510383]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	copy number gain	See cases [RCV000510926]	Chr1:849467..249224684 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22-36.21(chr1:11690766-12835739)	copy number loss	not provided [RCV000767547]	Chr1:11690766..12835739 [GRCh37] Chr1:1p36.22-36.21	pathogenic
NM_001243.5(TNFRSF8):c.835C>T (p.Arg279Cys)	single nucleotide variant	not specified [RCV004294301]	Chr1:12115618 [GRCh38] Chr1:12175675 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.854C>T (p.Pro285Leu)	single nucleotide variant	not specified [RCV004309143]	Chr1:12115637 [GRCh38] Chr1:12175694 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10722725-14267773)x1	copy number loss	See cases [RCV000512501]	Chr1:10722725..14267773 [GRCh37] Chr1:1p36.22-36.21	likely pathogenic
GRCh37/hg19 1p36.23-36.13(chr1:8850514-16272383)x1	copy number loss	See cases [RCV000512226]	Chr1:8850514..16272383 [GRCh37] Chr1:1p36.23-36.13	likely pathogenic
Single allele	deletion	Cerebellar dysfunction with variable cognitive and behavioral abnormalities [RCV000735904]	Chr1:12030001..12898000 [GRCh37] Chr1:1p36.22-36.21	uncertain significance
GRCh37/hg19 1p36.33-q44(chr1:47851-249228449)x3	copy number gain	not provided [RCV000736295]	Chr1:47851..249228449 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.33-q44(chr1:82154-249218992)x3	copy number gain	not provided [RCV000736305]	Chr1:82154..249218992 [GRCh37] Chr1:1p36.33-q44	pathogenic
GRCh37/hg19 1p36.22(chr1:11831595-12128498)x3	copy number gain	not provided [RCV000736406]	Chr1:11831595..12128498 [GRCh37] Chr1:1p36.22	benign
NM_001243.5(TNFRSF8):c.1326G>A (p.Arg442=)	single nucleotide variant	not provided [RCV000880968]	Chr1:12135604 [GRCh38] Chr1:12195661 [GRCh37] Chr1:1p36.22	benign
NM_001243.5(TNFRSF8):c.1256-8C>T	single nucleotide variant	not provided [RCV000901335]	Chr1:12126175 [GRCh38] Chr1:12186232 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.813G>A (p.Thr271=)	single nucleotide variant	not provided [RCV000963739]	Chr1:12115596 [GRCh38] Chr1:12175653 [GRCh37] Chr1:1p36.22	benign
NM_001243.5(TNFRSF8):c.1755A>C (p.Glu585Asp)	single nucleotide variant	not provided [RCV000964801]	Chr1:12142498 [GRCh38] Chr1:12202555 [GRCh37] Chr1:1p36.22	benign
GRCh37/hg19 1p36.22-36.21(chr1:11794553-12786444)x3	copy number gain	See cases [RCV000790593]	Chr1:11794553..12786444 [GRCh37] Chr1:1p36.22-36.21	pathogenic
NM_001243.5(TNFRSF8):c.1193T>C (p.Val398Ala)	single nucleotide variant	not specified [RCV004289215]	Chr1:12125990 [GRCh38] Chr1:12186047 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	copy number gain	Global developmental delay [RCV000787285]	Chr1:103343285..103455144 [GRCh37] Chr1:1p36.22-21.1	uncertain significance
GRCh37/hg19 1p36.22-36.21(chr1:10246640-12841900)x1	copy number loss	not provided [RCV000846372]	Chr1:10246640..12841900 [GRCh37] Chr1:1p36.22-36.21	uncertain significance
NM_001243.5(TNFRSF8):c.978G>A (p.Ala326=)	single nucleotide variant	not provided [RCV000949464]	Chr1:12123315 [GRCh38] Chr1:12183372 [GRCh37] Chr1:1p36.22	benign
NM_001243.5(TNFRSF8):c.327A>G (p.Arg109=)	single nucleotide variant	not provided [RCV000898985]	Chr1:12104437 [GRCh38] Chr1:12164494 [GRCh37] Chr1:1p36.22	benign
NM_001243.5(TNFRSF8):c.1470G>T (p.Pro490=)	single nucleotide variant	not provided [RCV000907629]	Chr1:12138363 [GRCh38] Chr1:12198420 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.771G>A (p.Thr257=)	single nucleotide variant	not provided [RCV000955676]	Chr1:12111992 [GRCh38] Chr1:12172049 [GRCh37] Chr1:1p36.22	benign
GRCh37/hg19 1p36.33-36.13(chr1:849466-17525065)x1	copy number loss	not provided [RCV001832902]	Chr1:849466..17525065 [GRCh37] Chr1:1p36.33-36.13	pathogenic
NC_000001.10:g.(?_8616514)_(12476900_?)dup	duplication	Immunodeficiency 14 [RCV001920571]	Chr1:8616514..12476900 [GRCh37] Chr1:1p36.23-36.22	uncertain significance
NC_000001.10:g.(?_11850737)_(12569078_?)dup	duplication	not provided [RCV001877528]	Chr1:11850737..12569078 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.10:g.(?_6485016)_(12569078_?)del	deletion	not provided [RCV001940096]	Chr1:6485016..12569078 [GRCh37] Chr1:1p36.31-36.22	uncertain significance
NC_000001.10:g.(?_9304994)_(12569078_?)dup	duplication	Charcot-Marie-Tooth disease type 2 [RCV003119499]	Chr1:9304994..12569078 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.982C>A (p.Pro328Thr)	single nucleotide variant	not specified [RCV004287666]	Chr1:12123319 [GRCh38] Chr1:12183376 [GRCh37] Chr1:1p36.22	uncertain significance
NC_000001.11:g.10115497_16283149dup	duplication	not specified [RCV002286386]	Chr1:10115497..16283149 [GRCh38] Chr1:1p36.22-36.13	likely pathogenic
GRCh37/hg19 1p36.31-36.13(chr1:6758933-19287770)x1	copy number loss	not provided [RCV002474779]	Chr1:6758933..19287770 [GRCh37] Chr1:1p36.31-36.13	pathogenic
GRCh37/hg19 1p36.33-36.22(chr1:849467-12448956)x1	copy number loss	not provided [RCV002473951]	Chr1:849467..12448956 [GRCh37] Chr1:1p36.33-36.22	pathogenic
NM_001243.5(TNFRSF8):c.235G>A (p.Asp79Asn)	single nucleotide variant	not specified [RCV004201690]	Chr1:12097184 [GRCh38] Chr1:12157241 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.851G>A (p.Arg284Gln)	single nucleotide variant	not specified [RCV004074771]	Chr1:12115634 [GRCh38] Chr1:12175691 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1506G>C (p.Glu502Asp)	single nucleotide variant	not specified [RCV004090113]	Chr1:12138399 [GRCh38] Chr1:12198456 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.458C>T (p.Ser153Phe)	single nucleotide variant	not specified [RCV004181616]	Chr1:12109602 [GRCh38] Chr1:12169659 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.778G>A (p.Val260Met)	single nucleotide variant	not specified [RCV004084752]	Chr1:12111999 [GRCh38] Chr1:12172056 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.635C>T (p.Pro212Leu)	single nucleotide variant	not specified [RCV004229557]	Chr1:12110163 [GRCh38] Chr1:12170220 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.754G>A (p.Glu252Lys)	single nucleotide variant	not specified [RCV004099535]	Chr1:12111975 [GRCh38] Chr1:12172032 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1726A>T (p.Met576Leu)	single nucleotide variant	not specified [RCV004157301]	Chr1:12142469 [GRCh38] Chr1:12202526 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.844G>A (p.Glu282Lys)	single nucleotide variant	not specified [RCV004208099]	Chr1:12115627 [GRCh38] Chr1:12175684 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.488C>T (p.Pro163Leu)	single nucleotide variant	not specified [RCV004191279]	Chr1:12109632 [GRCh38] Chr1:12169689 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.764G>A (p.Arg255His)	single nucleotide variant	not specified [RCV004102132]	Chr1:12111985 [GRCh38] Chr1:12172042 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1622C>T (p.Ala541Val)	single nucleotide variant	not specified [RCV004217953]	Chr1:12142365 [GRCh38] Chr1:12202422 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.880A>G (p.Thr294Ala)	single nucleotide variant	not specified [RCV004271493]	Chr1:12115663 [GRCh38] Chr1:12175720 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1469C>T (p.Pro490Leu)	single nucleotide variant	not specified [RCV004254456]	Chr1:12138362 [GRCh38] Chr1:12198419 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1351G>A (p.Ala451Thr)	single nucleotide variant	not specified [RCV004322516]	Chr1:12138244 [GRCh38] Chr1:12198301 [GRCh37] Chr1:1p36.22	likely benign
NC_000001.10:g.4481271_20530242del	deletion	Chromosome 1p36 deletion syndrome [RCV003159574]	Chr1:4481271..20530242 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_001243.5(TNFRSF8):c.1373C>T (p.Ala458Val)	single nucleotide variant	not specified [RCV004347218]	Chr1:12138266 [GRCh38] Chr1:12198323 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.896G>A (p.Arg299His)	single nucleotide variant	not specified [RCV004363086]	Chr1:12115679 [GRCh38] Chr1:12175736 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.686C>G (p.Pro229Arg)	single nucleotide variant	not specified [RCV004344869]	Chr1:12111907 [GRCh38] Chr1:12171964 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1741G>A (p.Glu581Lys)	single nucleotide variant	not specified [RCV004357203]	Chr1:12142484 [GRCh38] Chr1:12202541 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.22(chr1:12055883-12441427)x1	copy number loss	not provided [RCV003483050]	Chr1:12055883..12441427 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1244G>A (p.Arg415Gln)	single nucleotide variant	not provided [RCV003422588]	Chr1:12126041 [GRCh38] Chr1:12186098 [GRCh37] Chr1:1p36.22	likely benign
GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	copy number gain	Trisomy 12p [RCV003447845]	Chr1:99125..34026935 [GRCh38] Chr1:1p36.33-35.1	pathogenic
GRCh37/hg19 1p36.31-36.21(chr1:6330828-12910774)x1	copy number loss	not specified [RCV003987128]	Chr1:6330828..12910774 [GRCh37] Chr1:1p36.31-36.21	pathogenic
NM_001243.5(TNFRSF8):c.1639G>A (p.Glu547Lys)	single nucleotide variant	not specified [RCV004473201]	Chr1:12142382 [GRCh38] Chr1:12202439 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1661C>T (p.Ala554Val)	single nucleotide variant	not specified [RCV004473202]	Chr1:12142404 [GRCh38] Chr1:12202461 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.355G>T (p.Val119Phe)	single nucleotide variant	not specified [RCV004473203]	Chr1:12104465 [GRCh38] Chr1:12164522 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.913A>G (p.Ile305Val)	single nucleotide variant	not specified [RCV004473211]	Chr1:12115696 [GRCh38] Chr1:12175753 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.998C>A (p.Pro333Gln)	single nucleotide variant	not specified [RCV004473212]	Chr1:12123335 [GRCh38] Chr1:12183392 [GRCh37] Chr1:1p36.22	uncertain significance
GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	copy number loss	not provided [RCV004577440]	Chr1:4436802..22782007 [GRCh37] Chr1:1p36.32-36.12	pathogenic
NM_001243.5(TNFRSF8):c.542C>T (p.Pro181Leu)	single nucleotide variant	not specified [RCV004473204]	Chr1:12110070 [GRCh38] Chr1:12170127 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.809A>C (p.Lys270Thr)	single nucleotide variant	not specified [RCV004473208]	Chr1:12115592 [GRCh38] Chr1:12175649 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1604C>A (p.Pro535Gln)	single nucleotide variant	not specified [RCV004473200]	Chr1:12142347 [GRCh38] Chr1:12202404 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.770C>T (p.Thr257Met)	single nucleotide variant	not specified [RCV004473207]	Chr1:12111991 [GRCh38] Chr1:12172048 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1423G>A (p.Val475Met)	single nucleotide variant	not specified [RCV004473199]	Chr1:12138316 [GRCh38] Chr1:12198373 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.753C>A (p.Asp251Glu)	single nucleotide variant	not specified [RCV004473206]	Chr1:12111974 [GRCh38] Chr1:12172031 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.812C>T (p.Thr271Met)	single nucleotide variant	not specified [RCV004473209]	Chr1:12115595 [GRCh38] Chr1:12175652 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.864C>G (p.Ile288Met)	single nucleotide variant	not specified [RCV004473210]	Chr1:12115647 [GRCh38] Chr1:12175704 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.929C>T (p.Thr310Met)	single nucleotide variant	not specified [RCV004687011]	Chr1:12115712 [GRCh38] Chr1:12175769 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.1198G>A (p.Gly400Ser)	single nucleotide variant	not specified [RCV004682137]	Chr1:12125995 [GRCh38] Chr1:12186052 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.22C>G (p.Leu8Val)	single nucleotide variant	not specified [RCV004682140]	Chr1:12063620 [GRCh38] Chr1:12123677 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1108G>A (p.Ala370Thr)	single nucleotide variant	not specified [RCV004687010]	Chr1:12123782 [GRCh38] Chr1:12183839 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1720G>A (p.Asp574Asn)	single nucleotide variant	not specified [RCV004682138]	Chr1:12142463 [GRCh38] Chr1:12202520 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1001A>G (p.Asp334Gly)	single nucleotide variant	not specified [RCV004682139]	Chr1:12123338 [GRCh38] Chr1:12183395 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1261C>T (p.His421Tyr)	single nucleotide variant	not specified [RCV004882859]	Chr1:12126188 [GRCh38] Chr1:12186245 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1608G>C (p.Glu536Asp)	single nucleotide variant	not specified [RCV004882861]	Chr1:12142351 [GRCh38] Chr1:12202408 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1613G>A (p.Arg538Gln)	single nucleotide variant	not specified [RCV004882857]	Chr1:12142356 [GRCh38] Chr1:12202413 [GRCh37] Chr1:1p36.22	likely benign
NM_001243.5(TNFRSF8):c.887C>T (p.Ser296Phe)	single nucleotide variant	not specified [RCV004882860]	Chr1:12115670 [GRCh38] Chr1:12175727 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1604C>T (p.Pro535Leu)	single nucleotide variant	not specified [RCV004882854]	Chr1:12142347 [GRCh38] Chr1:12202404 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.763C>T (p.Arg255Cys)	single nucleotide variant	not specified [RCV004882855]	Chr1:12111984 [GRCh38] Chr1:12172041 [GRCh37] Chr1:1p36.22	uncertain significance
NM_001243.5(TNFRSF8):c.1675C>G (p.His559Asp)	single nucleotide variant	not specified [RCV004882856]	Chr1:12142418 [GRCh38] Chr1:12202475 [GRCh37] Chr1:1p36.22	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3461
Count of miRNA genes:	933
Interacting mature miRNAs:	1135
Transcripts:	ENST00000263932, ENST00000413146, ENST00000417814, ENST00000479933, ENST00000514649
Prediction methods:	Miranda, Rnahybrid
Result types:	miRGate_prediction

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

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

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1298451	OSTEAR17_H	Osteoarthritis QTL 17 (human)	2.4	0.0004	Joint/bone inflammation	osteoarthritis	11	1	25188105	Human
596953332	GWAS1072851_H	respiratory system disease QTL GWAS1072851 (human)		6e-15	respiratory system disease		1	12115601	12115602	Human
597247000	GWAS1343074_H	asthma QTL GWAS1343074 (human)		2e-09	asthma		1	12115601	12115602	Human
597586712	GWAS1643572_H	eosinophil count QTL GWAS1643572 (human)		6e-17	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	12115601	12115602	Human
597204543	GWAS1300617_H	asthma QTL GWAS1300617 (human)		8e-13	asthma		1	12115601	12115602	Human
407305679	GWAS954655_H	asthma QTL GWAS954655 (human)		4e-12	asthma		1	12115601	12115602	Human
597292144	GWAS1388218_H	respiratory system disease QTL GWAS1388218 (human)		6e-15	respiratory system disease		1	12115601	12115602	Human
597340848	GWAS1436922_H	asthma QTL GWAS1436922 (human)		2e-11	asthma		1	12115601	12115602	Human
597594805	GWAS1651665_H	eosinophil count QTL GWAS1651665 (human)		2e-28	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	12115601	12115602	Human
1298463	BP9_H	Blood pressure QTL 9 (human)	3.9		Blood pressure	hypertension susceptibility	1	1	25188105	Human
1643380	BW316_H	Body weight QTL 316 (human)	2.62	0.0002	Body weight	BMI	1	7585503	33585503	Human
597587888	GWAS1644748_H	eosinophil count QTL GWAS1644748 (human)		7e-17	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	12115601	12115602	Human
597070329	GWAS1166403_H	mosquito bite reaction size measurement QTL GWAS1166403 (human)		4e-08	mosquito bite reaction size measurement		1	12115601	12115602	Human
1576329	MYI9_H	Myocardial infarction susceptibility QTL 9 (human)	12		Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
597055204	GWAS1151278_H	eosinophil percentage of leukocytes QTL GWAS1151278 (human)		4e-28	eosinophil quantity (VT:0002602)	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	12115601	12115602	Human
597587372	GWAS1644232_H	eosinophil count QTL GWAS1644232 (human)		2e-18	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	12115601	12115602	Human
597055203	GWAS1151277_H	eosinophil percentage of leukocytes QTL GWAS1151277 (human)		5e-10	eosinophil quantity (VT:0002602)	blood eosinophil count to total leukocyte count ratio (CMO:0000369)	1	12082641	12082642	Human
597050243	GWAS1146317_H	Eczematoid dermatitis QTL GWAS1146317 (human)		7e-11	Eczematoid dermatitis		1	12084377	12084378	Human
597057123	GWAS1153197_H	Eczematoid dermatitis, allergic rhinitis QTL GWAS1153197 (human)		1e-08	Eczematoid dermatitis, allergic rhinitis		1	12084377	12084378	Human
597046892	GWAS1142966_H	atopic asthma QTL GWAS1142966 (human)		3e-08	atopic asthma		1	12069994	12069995	Human
1576325	MYI1_H	Myocardial infarction susceptibility QTL 1 (human)	11.68	1e-12	Myocardial infarction susceptibility	early-onset	1	7585503	33585503	Human
597046891	GWAS1142965_H	atopic asthma QTL GWAS1142965 (human)		9e-10	atopic asthma		1	12115601	12115602	Human
597054120	GWAS1150194_H	eosinophil count QTL GWAS1150194 (human)		1e-21	eosinophil quantity (VT:0002602)	blood eosinophil count (CMO:0000033)	1	12115601	12115602	Human

SHGC-74226

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,203,653 - 12,203,939	UniSTS	GRCh37
Build 36	1	12,126,240 - 12,126,526	RGD	NCBI36
Celera	1	11,316,942 - 11,317,228	RGD
Cytogenetic Map	1	p36	UniSTS
HuRef	1	11,356,912 - 11,357,198	UniSTS
TNG Radiation Hybrid Map	1	6317.0	UniSTS
GeneMap99-GB4 RH Map	1	51.31	UniSTS

D11S3023

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	14,405,964 - 14,406,090	UniSTS	GRCh37
GRCh37	1	12,175,620 - 12,176,077	UniSTS	GRCh37
Build 36	1	12,098,207 - 12,098,664	RGD	NCBI36
Celera	11	14,531,052 - 14,531,178	UniSTS
Celera	1	11,288,924 - 11,289,381	RGD
Cytogenetic Map	11	p15.2	UniSTS
Cytogenetic Map	1	p36	UniSTS
HuRef	11	14,086,963 - 14,087,089	UniSTS
HuRef	1	11,329,688 - 11,330,145	UniSTS

D1S3098

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,121,584 - 12,121,803	UniSTS	GRCh37
Build 36	1	12,044,171 - 12,044,390	RGD	NCBI36
Celera	1	11,235,231 - 11,235,450	RGD
Cytogenetic Map	1	p36	UniSTS
HuRef	1	11,275,766 - 11,275,985	UniSTS

GDB:549221

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,204,051 - 12,204,175	UniSTS	GRCh37
Build 36	1	12,126,638 - 12,126,762	RGD	NCBI36
Celera	1	11,317,340 - 11,317,464	RGD
Cytogenetic Map	1	p36	UniSTS
HuRef	1	11,357,310 - 11,357,434	UniSTS

RH124848

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,140,359 - 12,140,542	UniSTS	GRCh37
Build 36	1	12,062,946 - 12,063,129	RGD	NCBI36
Celera	1	11,253,659 - 11,253,842	RGD
HuRef	1	11,294,435 - 11,294,618	UniSTS

TNFRSF8_1685

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,203,525 - 12,204,410	UniSTS	GRCh37
Build 36	1	12,126,112 - 12,126,997	RGD	NCBI36
Celera	1	11,316,814 - 11,317,699	RGD
HuRef	1	11,356,784 - 11,357,669	UniSTS

D1S3251

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	1	12,202,695 - 12,202,903	UniSTS	GRCh37
Build 36	1	12,125,282 - 12,125,490	RGD	NCBI36
Celera	1	11,315,984 - 11,316,192	RGD
Cytogenetic Map	1	p36	UniSTS
HuRef	1	11,355,954 - 11,356,162	UniSTS
Stanford-G3 RH Map	1	629.0	UniSTS
GeneMap99-GB4 RH Map	1	51.31	UniSTS
Whitehead-RH Map	1	49.3	UniSTS
NCBI RH Map	1	83.5	UniSTS
GeneMap99-G3 RH Map	1	629.0	UniSTS

Click on a value in the shaded box below the category label to view a detailed expression data table for that system.

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	renal system	reproductive system	respiratory system	sensory system
1204	2368	2786	2232	4640	1658	2205	5	573	1916	413	2238	7101	6408	41	3430	801	1681	1527	167


RefSeq Transcripts	NG_029573	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001243	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001281430	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011542441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011542443	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434793	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047434799	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054339680	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054339681	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054339682	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054339683	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AH008756	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ272029	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ289159	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ308521	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ308522	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311487	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311488	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311489	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311490	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311492	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311493	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311494	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ409011	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ409012	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL357835	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY498860	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC063482	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC073839	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC136400	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC141804	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC171762	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471130	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068277	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D86042	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI179076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI179078	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574144	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HI574146	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KF495861	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	M83554	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	S75768	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000263932 ⟹ ENSP00000263932

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	12,063,303 - 12,144,207 (+)	Ensembl

Ensembl Acc Id:

ENST00000413146 ⟹ ENSP00000398337

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	12,125,899 - 12,144,207 (+)	Ensembl

Ensembl Acc Id:

ENST00000417814 ⟹ ENSP00000390650

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	12,063,377 - 12,144,205 (+)	Ensembl

Ensembl Acc Id:

ENST00000479933

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	12,125,934 - 12,144,207 (+)	Ensembl

Ensembl Acc Id:

ENST00000514649 ⟹ ENSP00000421938

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	1	12,063,470 - 12,143,117 (+)	Ensembl

RefSeq Acc Id:

NM_001243 ⟹ NP_001234

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI
GRCh37	1	12,123,434 - 12,204,264 (+)	ENTREZGENE
Build 36	1	12,046,021 - 12,126,851 (+)	NCBI Archive
HuRef	1	11,277,612 - 11,357,523 (+)	ENTREZGENE
CHM1_1	1	12,111,329 - 12,192,169 (+)	NCBI
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI

Sequence:

show sequence

CTGAGTCATCTCTGCACGTGTTTGCCCCCTTTTTTCTTCGCTGCTTGTAGCTAAGTGTTCCTGGAACCAATTTGATACGGGAGAACTAAGGCTGAAACCTCGGAGGAACAACCACTTTTGAAGTGACT
TCGCGGCGTGCGTTGGGTGCGGACTAGGTGGCCGCGGCGGGAGTGTGCTGGAGCCTGAAGTCCACGCGCGCGGCTGAGAACCGCCGGGACCGCACGTGGGCGCCGCGCGCTTCCCCCGCTTCCCAGGT
GGGCGCCGGCCGCCAGGCCACCTCACGTCCGGCCCCGGGGATGCGCGTCCTCCTCGCCGCGCTGGGACTGCTGTTCCTGGGGGCGCTACGAGCCTTCCCACAGGATCGACCCTTCGAGGACACCTGTC
ATGGAAACCCCAGCCACTACTATGACAAGGCTGTCAGGAGGTGCTGTTACCGCTGCCCCATGGGGCTGTTCCCGACACAGCAGTGCCCACAGAGGCCTACTGACTGCAGGAAGCAGTGTGAGCCTGAC
TACTACCTGGATGAGGCCGACCGCTGTACAGCCTGCGTGACTTGTTCTCGAGACGACCTCGTGGAGAAGACGCCGTGTGCATGGAACTCCTCCCGTGTCTGCGAATGTCGACCCGGCATGTTCTGTTC
CACGTCTGCCGTCAACTCCTGTGCCCGCTGCTTCTTCCATTCTGTCTGTCCGGCAGGGATGATTGTCAAGTTCCCAGGCACGGCGCAGAAGAACACGGTCTGTGAGCCGGCTTCCCCAGGGGTCAGCC
CTGCCTGTGCCAGCCCAGAGAACTGCAAGGAACCCTCCAGTGGCACCATCCCCCAGGCCAAGCCCACCCCGGTGTCCCCAGCAACCTCCAGTGCCAGCACCATGCCTGTAAGAGGGGGCACCCGCCTC
GCCCAGGAAGCTGCTTCTAAACTGACGAGGGCTCCCGACTCTCCCTCCTCTGTGGGAAGGCCTAGTTCAGATCCAGGTCTGTCCCCAACACAGCCATGCCCAGAGGGGTCTGGTGATTGCAGAAAGCA
GTGTGAGCCCGACTACTACCTGGACGAGGCCGGCCGCTGCACGGCCTGCGTGAGCTGTTCTCGAGATGACCTTGTGGAGAAGACGCCATGTGCATGGAACTCCTCCCGCACCTGCGAATGTCGACCTG
GCATGATCTGTGCCACATCAGCCACCAACTCCTGTGCCCGCTGTGTCCCCTACCCAATCTGTGCAGCAGAGACGGTCACCAAGCCCCAGGATATGGCTGAGAAGGACACCACCTTTGAGGCGCCACCC
CTGGGGACCCAGCCGGACTGCAACCCCACCCCAGAGAATGGCGAGGCGCCTGCCAGCACCAGCCCCACTCAGAGCTTGCTGGTGGACTCCCAGGCCAGTAAGACGCTGCCCATCCCAACCAGCGCTCC
CGTCGCTCTCTCCTCCACGGGGAAGCCCGTTCTGGATGCAGGGCCAGTGCTCTTCTGGGTGATCCTGGTGTTGGTTGTGGTGGTCGGCTCCAGCGCCTTCCTCCTGTGCCACCGGAGGGCCTGCAGGA
AGCGAATTCGGCAGAAGCTCCACCTGTGCTACCCGGTCCAGACCTCCCAGCCCAAGCTAGAGCTTGTGGATTCCAGACCCAGGAGGAGCTCAACGCAGCTGAGGAGTGGTGCGTCGGTGACAGAACCC
GTCGCGGAAGAGCGAGGGTTAATGAGCCAGCCACTGATGGAGACCTGCCACAGCGTGGGGGCAGCCTACCTGGAGAGCCTGCCGCTGCAGGATGCCAGCCCGGCCGGGGGCCCCTCGTCCCCCAGGGA
CCTTCCTGAGCCCCGGGTGTCCACGGAGCACACCAATAACAAGATTGAGAAAATCTACATCATGAAGGCTGACACCGTGATCGTGGGGACCGTGAAGGCTGAGCTGCCGGAGGGCCGGGGCCTGGCGG
GGCCAGCAGAGCCCGAGTTGGAGGAGGAGCTGGAGGCGGACCATACCCCCCACTACCCCGAGCAGGAGACAGAACCGCCTCTGGGCAGCTGCAGCGATGTCATGCTCTCAGTGGAAGAGGAAGGGAAA
GAAGACCCCTTGCCCACAGCTGCCTCTGGAAAGTGAGGCCTGGGCTGGGCTGGGGCTAGGAGGGCAGCAGGGTGGCCTCTGGGAGGCCAGGATGGCACTGTTGGCACCGAGGTTGGGGGCAGAGGCCC
ATCTGGCCTGAACTGAGGCTCCAGCATCTAGTGGTGGACCGGCCGGTCACTGCAGGGGTCTGGTGGTCTCTGCTTGCATCCCCAACTTAGCTGTCCCCTGACCCAGAGCCTAGGGGATCCGGGGCTTG
TACAGAAGAGACAGTCCAAGGGGACTGGATCCCAGCAGTGATGTTGGTTGAGGCAGCAAACAGATGGCAGGATGGGCACTGCCGAGAACAGCATTGGTCCCAGAGCCCTGGGCATCAGACCTTAACCA
CCAGGCCCACAGCCCAGCGAGGGAGAGGTCGTGAGGCCAGCTCCCGGGGCCCCTGTAACCCTACTCTCCTCTCTCCCTGGACCTCAGAGGTGACACCCATTGGGCCCTTCCGGCATGCCCCCAGTTAC
TGTAAATGTGGCCCCCAGTGGGCATGGAGCCAGTGCCTGTGGTTGTTTCTCCAGAGTCAAAAGGGAAGTCGAGGGATGGGGCGTCGTCAGCTGGCACTGTCTCTGCTGCAGCGGCCACACTGTACTCT
GCACTGGTGTGAGGGCCCCTGCCTGGACTGTGGGACCCTCCTGGTGCTGCCCACCTTCCCTGTCCTGTAGCCCCCTCGGTGGGCCCAGGGCCTAGGGCCCAGGATCAAGTCACTCATCTCAGAATGTC
CCCACCAATCCCCGCCACAGCAGGCGCCTCGGGTCCCAGATGTCTGCAGCCCTCAGCAGCTGCAGACCGCCCCTCACCAACCCAGAGAACCTGCTTTACTTTGCCCAGGGACTTCCTCCCCATGTGAA
CATGGGGAACTTCGGGCCCTGCCTGGAGTCCTTGACCGCTCTCTGTGGGCCCCACCCACTCTGTCCTGGGAAATGAAGAAGCATCTTCCTTAGGTCTGCCCTGCTTGCAAATCCACTAGCACCGACCC
CACCACCTGGTTCCGGCTCTGCACGCTTTGGGGTGTGGATGTCGAGAGGCACCACGGCCTCACCCAGGCATCTGCTTTACTCTGGACCATAGGAAACAAGACCGTTTGGAGGTTTCATCAGGATTTTG
GGTTTTTCACATTTCACGCTAAGGAGTAGTGGCCCTGACTTCCGGTCGGCTGGCCAGCTGACTCCCTAGGGCCTTCAGACGTGTATGCAAATGAGTGATGGATAAGGATGAGTCTTGGAGTTGCGGGC
AGCCTGGAGACTCGTGGACTTACCGCCTGGAGGCAGGCCCGGGAAGGCTGCTGTTTACTCATCGGGCAGCCACGTGCTCTCTGGAGGAAGTGATAGTTTCTGAAACCGCTCAGATGTTTTGGGGAAAG
TTGGAGAAGCCGTGGCCTTGCGAGAGGTGGTTACACCAGAACCTGGACATTGGCCAGAAGAAGCTTAAGTGGGCAGACACTGTTTGCCCAGTGTTTGTGCAAGGATGGAGTGGGTGTCTCTGCATCAC
CCACAGCCGCAGCTGTAAGGCACGCTGGAAGGCACACGCCTGCCAGGCAGGGCAGTCTGGCGCCCATGATGGGAGGGATTGACATGTTTCAACAAAATAATGCACTTCCTTACCTAGTGGCCCTTCAC
ACAACTTTTGAATCTCTAAAAATCCATAAAATCCTTAAAGAACTGTAA

hide sequence

RefSeq Acc Id:

NM_001281430 ⟹ NP_001268359

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI
HuRef	1	11,277,612 - 11,357,523 (+)	NCBI
CHM1_1	1	12,111,329 - 12,192,169 (+)	NCBI
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI

Sequence:

show sequence

CTGAGTCATCTCTGCACGTGTTTGCCCCCTTTTTTCTTCGCTGCTTGTAGCTAAGTGTTCCTGG
AACCAATTTGATACGGGAGAACTAAGGCTGAAACCTCGGAGGAACAACCACTTTTGAAGTGACTTCGCGGCGTGCGTTGGGTGCGGACTAGGTGGCCGCGGCGGGAGTGTGCTGGAGCCTGAAGTCCA
CGCGCGCGGCTGAGAACCGCCGGGACCGCACGTGGGCGCCGCGCGCTTCCCCCGCTTCCCAGGTGGGCGCCGGCCGCCAGGCCACCTCACGTCCGGCCCCGGGGATGCGCGTCCTCCTCGCCGCGCTG
GGACTGCTGTTCCTGGGGGCGCTACGAGCCTTCCCACAGGGCTGTTCCCGACACAGCAGTGCCCACAGAGGCCTACTGACTGCAGGAAGCAGTGTGAGCCTGACTACTACCTGGATGAGGCCGACCGC
TGTACAGCCTGCGTGACTTGTTCTCGAGACGACCTCGTGGAGAAGACGCCGTGTGCATGGAACTCCTCCCGTGTCTGCGAATGTCGACCCGGCATGTTCTGTTCCACGTCTGCCGTCAACTCCTGTGC
CCGCTGCTTCTTCCATTCTGTCTGTCCGGCAGGGATGATTGTCAAGTTCCCAGGCACGGCGCAGAAGAACACGGTCTGTGAGCCGGCTTCCCCAGGGGTCAGCCCTGCCTGTGCCAGCCCAGAGAACT
GCAAGGAACCCTCCAGTGGCACCATCCCCCAGGCCAAGCCCACCCCGGTGTCCCCAGCAACCTCCAGTGCCAGCACCATGCCTGTAAGAGGGGGCACCCGCCTCGCCCAGGAAGCTGCTTCTAAACTG
ACGAGGGCTCCCGACTCTCCCTCCTCTGTGGGAAGGCCTAGTTCAGATCCAGGTCTGTCCCCAACACAGCCATGCCCAGAGGGGTCTGGTGATTGCAGAAAGCAGTGTGAGCCCGACTACTACCTGGA
CGAGGCCGGCCGCTGCACGGCCTGCGTGAGCTGTTCTCGAGATGACCTTGTGGAGAAGACGCCATGTGCATGGAACTCCTCCCGCACCTGCGAATGTCGACCTGGCATGATCTGTGCCACATCAGCCA
CCAACTCCTGTGCCCGCTGTGTCCCCTACCCAATCTGTGCAGCAGAGACGGTCACCAAGCCCCAGGATATGGCTGAGAAGGACACCACCTTTGAGGCGCCACCCCTGGGGACCCAGCCGGACTGCAAC
CCCACCCCAGAGAATGGCGAGGCGCCTGCCAGCACCAGCCCCACTCAGAGCTTGCTGGTGGACTCCCAGGCCAGTAAGACGCTGCCCATCCCAACCAGCGCTCCCGTCGCTCTCTCCTCCACGGGGAA
GCCCGTTCTGGATGCAGGGCCAGTGCTCTTCTGGGTGATCCTGGTGTTGGTTGTGGTGGTCGGCTCCAGCGCCTTCCTCCTGTGCCACCGGAGGGCCTGCAGGAAGCGAATTCGGCAGAAGCTCCACC
TGTGCTACCCGGTCCAGACCTCCCAGCCCAAGCTAGAGCTTGTGGATTCCAGACCCAGGAGGAGCTCAACGCTGAGGAGTGGTGCGTCGGTGACAGAACCCGTCGCGGAAGAGCGAGGGTTAATGAGC
CAGCCACTGATGGAGACCTGCCACAGCGTGGGGGCAGCCTACCTGGAGAGCCTGCCGCTGCAGGATGCCAGCCCGGCCGGGGGCCCCTCGTCCCCCAGGGACCTTCCTGAGCCCCGGGTGTCCACGGA
GCACACCAATAACAAGATTGAGAAAATCTACATCATGAAGGCTGACACCGTGATCGTGGGGACCGTGAAGGCTGAGCTGCCGGAGGGCCGGGGCCTGGCGGGGCCAGCAGAGCCCGAGTTGGAGGAGG
AGCTGGAGGCGGACCATACCCCCCACTACCCCGAGCAGGAGACAGAACCGCCTCTGGGCAGCTGCAGCGATGTCATGCTCTCAGTGGAAGAGGAAGGGAAAGAAGACCCCTTGCCCACAGCTGCCTCT
GGAAAGTGAGGCCTGGGCTGGGCTGGGGCTAGGAGGGCAGCAGGGTGGCCTCTGGGAGGCCAGGATGGCACTGTTGGCACCGAGGTTGGGGGCAGAGGCCCATCTGGCCTGAACTGAGGCTCCAGCAT
CTAGTGGTGGACCGGCCGGTCACTGCAGGGGTCTGGTGGTCTCTGCTTGCATCCCCAACTTAGCTGTCCCCTGACCCAGAGCCTAGGGGATCCGGGGCTTGTACAGAAGAGACAGTCCAAGGGGACTG
GATCCCAGCAGTGATGTTGGTTGAGGCAGCAAACAGATGGCAGGATGGGCACTGCCGAGAACAGCATTGGTCCCAGAGCCCTGGGCATCAGACCTTAACCACCAGGCCCACAGCCCAGCGAGGGAGAG
GTCGTGAGGCCAGCTCCCGGGGCCCCTGTAACCCTACTCTCCTCTCTCCCTGGACCTCAGAGGTGACACCCATTGGGCCCTTCCGGCATGCCCCCAGTTACTGTAAATGTGGCCCCCAGTGGGCATGG
AGCCAGTGCCTGTGGTTGTTTCTCCAGAGTCAAAAGGGAAGTCGAGGGATGGGGCGTCGTCAGCTGGCACTGTCTCTGCTGCAGCGGCCACACTGTACTCTGCACTGGTGTGAGGGCCCCTGCCTGGA
CTGTGGGACCCTCCTGGTGCTGCCCACCTTCCCTGTCCTGTAGCCCCCTCGGTGGGCCCAGGGCCTAGGGCCCAGGATCAAGTCACTCATCTCAGAATGTCCCCACCAATCCCCGCCACAGCAGGCGC
CTCGGGTCCCAGATGTCTGCAGCCCTCAGCAGCTGCAGACCGCCCCTCACCAACCCAGAGAACCTGCTTTACTTTGCCCAGGGACTTCCTCCCCATGTGAACATGGGGAACTTCGGGCCCTGCCTGGA
GTCCTTGACCGCTCTCTGTGGGCCCCACCCACTCTGTCCTGGGAAATGAAGAAGCATCTTCCTTAGGTCTGCCCTGCTTGCAAATCCACTAGCACCGACCCCACCACCTGGTTCCGGCTCTGCACGCT
TTGGGGTGTGGATGTCGAGAGGCACCACGGCCTCACCCAGGCATCTGCTTTACTCTGGACCATAGGAAACAAGACCGTTTGGAGGTTTCATCAGGATTTTGGGTTTTTCACATTTCACGCTAAGGAGT
AGTGGCCCTGACTTCCGGTCGGCTGGCCAGCTGACTCCCTAGGGCCTTCAGACGTGTATGCAAATGAGTGATGGATAAGGATGAGTCTTGGAGTTGCGGGCAGCCTGGAGACTCGTGGACTTACCGCC
TGGAGGCAGGCCCGGGAAGGCTGCTGTTTACTCATCGGGCAGCCACGTGCTCTCTGGAGGAAGTGATAGTTTCTGAAACCGCTCAGATGTTTTGGGGAAAGTTGGAGAAGCCGTGGCCTTGCGAGAGG
TGGTTACACCAGAACCTGGACATTGGCCAGAAGAAGCTTAAGTGGGCAGACACTGTTTGCCCAGTGTTTGTGCAAGGATGGAGTGGGTGTCTCTGCATCACCCACAGCCGCAGCTGTAAGGCACGCTG
GAAGGCACACGCCTGCCAGGCAGGGCAGTCTGGCGCCCATGATGGGAGGGATTGACATGTTTCAACAAAATAATGCACTTCCTTACCTAGTGGCCCTTCACACAACTTTTGAATCTCTAAAAATCCAT
AAAATCCTTAAAGAACTGTAA

hide sequence

RefSeq Acc Id:

XM_011542441 ⟹ XP_011540743

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI

Sequence:

show sequence

CACGTGTTTGCCCCCTTTTTTCTTCGCTGCTTGTAGCTAAGTGTTCCTGGAACCAATTTGATAC
GGGAGAACTAAGGCTGAAACCTCGGAGGAACAACCACTTTTGAAGTGACTTCGCGGCGTGCGTTGGGTGCGGACTAGGTGGCCGCGGCGGGAGTGTGCTGGAGCCTGAAGTCCACGCGCGCGGCTGAG
AACCGCCGGGACCGCACGTGGGCGCCGCGCGCTTCCCCCGCTTCCCAGGTGGGCGCCGGCCGCCAGGCCACCTCACGTCCGGCCCCGGGGATGCGCGTCCTCCTCGCCGCGCTGGGACTGCTGTTCCT
GGGGGCGCTACGAGCCTTCCCACAGGATCGACCCTTCGAGGACACCTGTCATGGAAACCCCAGCCACTACTATGACAAGGCTGTCAGGAGGTGCTGTTACCGCTGCCCCATGGGGCTGTTCCCGACAC
AGCAGTGCCCACAGAGGCCTACTGACTGCAGGAAGCAGTGTGAGCCTGACTACTACCTGGATGAGGCCGACCGCTGTACAGCCTGCGTGACTTGTTCTCGAGACGACCTCGTGGAGAAGACGCCGTGT
GCATGGAACTCCTCCCGTGTCTGCGAATGTCGACCCGGCATGTTCTGTTCCACGTCTGCCGTCAACTCCTGTGCCCGCTGCTTCTTCCATTCTGTCTGTCCGGCAGGGATGATTGTCAAGTTCCCAGG
CACGGCGCAGAAGAACACGGTCTGTGAGCCGGCTTCCCCAGGGGTCAGCCCTGCCTGTGCCAGCCCAGAGAACTGCAAGGAACCCTCCAGTGGCACCATCCCCCAGGCCAAGCCCACCCCGGTGTCCC
CAGCAACCTCCAGTGCCAGCACCATGCCTGTAAGAGGGGGCACCCGCCTCGCCCAGGAAGCTGCTTCTAAACTGACGAGGGCTCCCGACTCTCCCTCCTCTGTGGGAAGGCCTAGTTCAGATCCAGGT
CTGTCCCCAACACAGCCATGCCCAGAGGGGTCTGGTGATTGCAGAAAGCAGTGTGAGCCCGACTACTACCTGGACGAGGCCGGCCGCTGCACGGCCTGCGTGAGCTGTTCTCGAGATGACCTTGTGGA
GAAGACGCCATGTGCATGGAACTCCTCCCGCACCTGCGAATGTCGACCTGGCATGATCTGTGCCACATCAGCCACCAACTCCTGTGCCCGCTGTGTCCCCTACCCAATCTGTGCAGCAGAGACGGTCA
CCAAGCCCCAGGATATGGCTGAGAAGGACACCACCTTTGAGGCGCCACCCCTGGGGACCCAGCCGGACTGCAACCCCACCCCAGAGAATGGCGAGGCGCCTGCCAGCACCAGCCCCACTCAGAGCTTG
CTGGTGGACTCCCAGGCCAGTAAGACGCTGCCCATCCCAACCAGCGCTCCCGTCGCTCTCTCCTCCACGGGGAAGCCCGTTCTGGATGCAGGGCCAGTGCTCTTCTGGGTGATCCTGGTGTTGGTTGT
GGTGGTCGGCTCCAGCGCCTTCCTCCTGTGCCACCGGAGGGCCTGCAGGAAGCGAATTCGGCAGAAGCTCCACCTGTGCTACCCGGTCCAGACCTCCCAGCCCAAGCTAGAGCTTGTGGATTCCAGAC
CCAGGAGGAGCTCAACGCTGAGGAGTGGTGCGTCGGTGACAGAACCCGTCGCGGAAGAGCGAGGGTTAATGAGCCAGCCACTGATGGAGACCTGCCACAGCGTGGGGGCAGCCTACCTGGAGAGCCTG
CCGCTGCAGGATGCCAGCCCGGCCGGGGGCCCCTCGTCCCCCAGGGACCTTCCTGAGCCCCGGGTGTCCACGGAGCACACCAATAACAAGATTGAGAAAATCTACATCATGAAGGCTGACACCGTGAT
CGTGGGGACCGTGAAGGCTGAGCTGCCGGAGGGCCGGGGCCTGGCGGGGCCAGCAGAGCCCGAGTTGGAGGAGGAGCTGGAGGCGGACCATACCCCCCACTACCCCGAGCAGGAGACAGAACCGCCTC
TGGGCAGCTGCAGCGATGTCATGCTCTCAGTGGAAGAGGAAGGGAAAGAAGACCCCTTGCCCACAGCTGCCTCTGGAAAGTGAGGCCTGGGCTGGGCTGGGGCTAGGAGGGCAGCAGGGTGGCCTCTG
GGAGGCCAGGATGGCACTGTTGGCACCGAGGTTGGGGGCAGAGGCCCATCTGGCCTGAACTGAGGCTCCAGCATCTAGTGGTGGACCGGCCGGTCACTGCAGGGGTCTGGTGGTCTCTGCTTGCATCC
CCAACTTAGCTGTCCCCTGACCCAGAGCCTAGGGGATCCGGGGCTTGTACAGAAGAGACAGTCCAAGGGGACTGGATCCCAGCAGTGATGTTGGTTGAGGCAGCAAACAGATGGCAGGATGGGCACTG
CCGAGAACAGCATTGGTCCCAGAGCCCTGGGCATCAGACCTTAACCACCAGGCCCACAGCCCAGCGAGGGAGAGGTCGTGAGGCCAGCTCCCGGGGCCCCTGTAACCCTACTCTCCTCTCTCCCTGGA
CCTCAGAGGTGACACCCATTGGGCCCTTCCGGCATGCCCCCAGTTACTGTAAATGTGGCCCCCAGTGGGCATGGAGCCAGTGCCTGTGGTTGTTTCTCCAGAGTCAAAAGGGAAGTCGAGGGATGGGG
CGTCGTCAGCTGGCACTGTCTCTGCTGCAGCGGCCACACTGTACTCTGCACTGGTGTGAGGGCCCCTGCCTGGACTGTGGGACCCTCCTGGTGCTGCCCACCTTCCCTGTCCTGTAGCCCCCTCGGTG
GGCCCAGGGCCTAGGGCCCAGGATCAAGTCACTCATCTCAGAATGTCCCCACCAATCCCCGCCACAGCAGGCGCCTCGGGTCCCAGATGTCTGCAGCCCTCAGCAGCTGCAGACCGCCCCTCACCAAC
CCAGAGAACCTGCTTTACTTTGCCCAGGGACTTCCTCCCCATGTGAACATGGGGAACTTCGGGCCCTGCCTGGAGTCCTTGACCGCTCTCTGTGGGCCCCACCCACTCTGTCCTGGGAAATGAAGAAG
CATCTTCCTTAGGTCTGCCCTGCTTGCAAATCCACTAGCACCGACCCCACCACCTGGTTCCGGCTCTGCACGCTTTGGGGTGTGGATGTCGAGAGGCACCACGGCCTCACCCAGGCATCTGCTTTACT
CTGGACCATAGGAAACAAGACCGTTTGGAGGTTTCATCAGGATTTTGGGTTTTTCACATTTCACGCTAAGGAGTAGTGGCCCTGACTTCCGGTCGGCTGGCCAGCTGACTCCCTAGGGCCTTCAGACG
TGTATGCAAATGAGTGATGGATAAGGATGAGTCTTGGAGTTGCGGGCAGCCTGGAGACTCGTGGACTTACCGCCTGGAGGCAGGCCCGGGAAGGCTGCTGTTTACTCATCGGGCAGCCACGTGCTCTC
TGGAGGAAGTGATAGTTTCTGAAACCGCTCAGATGTTTTGGGGAAAGTTGGAGAAGCCGTGGCCTTGCGAGAGGTGGTTACACCAGAACCTGGACATTGGCCAGAAGAAGCTTAAGTGGGCAGACACT
GTTTGCCCAGTGTTTGTGCAAGGATGGAGTGGGTGTCTCTGCATCACCCACAGCCGCAGCTGTAAGGCACGCTGGAAGGCACACGCCTGCCAGGCAGGGCAGTCTGGCGCCCATGATGGGAGGGATTG
ACATGTTTCAACAAAATAATGCACTTCCTTACCTAGTGGCCCTTCACACAACTTTTGAATCTCTAAAAATCCATAAAATCCTTAAAGAACTGTAAGGCTGA

hide sequence

RefSeq Acc Id:

XM_011542443 ⟹ XP_011540745

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,096,314 - 12,144,207 (+)	NCBI

Sequence:

show sequence

AGGCTGGATTAGGGTCTTAGTGGCAGGAGTGTCCAATCTTTCGGCTTCCCTGGGCCACATTGGAAGAAGAAGTGTTAGTGTGGAAGAAGTGAATTTAGTCTAACACTAAGGATAGTGTTTTAGCTTAT
AGCTGATGAGCTAAAAAAAAAAAAAAAAAAAATCACACACACGCAAATCTCATAATGTTTTAAGAAAGTTTATGAGTTTGCGTTGGGCCTCATTCAGAGCTGTCCTGGGCCGAATGCGGCTAGTCGTG
GGTTGGACAAGCTTGGTCTAGACTTTCATGGTCTAAAGTTATGGCTCTCCTAATTCCTGCAGTGAGATAAGACCCCTGCAGAGAATGATGACAACCGGTGCTCATATAGTGCTTGTTGGGTGCCAGGG
ACTGCTGTAGTACTTTATACATATTTATCTTCACAGTCCATTCAGTCCTTTCAAGAACACTAGGAGGGCTGTTCCCGACACAGCAGTGCCCACAGAGGCCTACTGACTGCAGGAAGCAGTGTGAGCCT
GACTACTACCTGGATGAGGCCGACCGCTGTACAGCCTGCGTGACTTGTTCTCGAGACGACCTCGTGGAGAAGACGCCGTGTGCATGGAACTCCTCCCGTGTCTGCGAATGTCGACCCGGCATGTTCTG
TTCCACGTCTGCCGTCAACTCCTGTGCCCGCTGCTTCTTCCATTCTGTCTGTCCGGCAGGGATGATTGTCAAGTTCCCAGGCACGGCGCAGAAGAACACGGTCTGTGAGCCGGCTTCCCCAGGGGTCA
GCCCTGCCTGTGCCAGCCCAGAGAACTGCAAGGAACCCTCCAGTGGCACCATCCCCCAGGCCAAGCCCACCCCGGTGTCCCCAGCAACCTCCAGTGCCAGCACCATGCCTGTAAGAGGGGGCACCCGC
CTCGCCCAGGAAGCTGCTTCTAAACTGACGAGGGCTCCCGACTCTCCCTCCTCTGTGGGAAGGCCTAGTTCAGATCCAGGTCTGTCCCCAACACAGCCATGCCCAGAGGGGTCTGGTGATTGCAGAAA
GCAGTGTGAGCCCGACTACTACCTGGACGAGGCCGGCCGCTGCACGGCCTGCGTGAGCTGTTCTCGAGATGACCTTGTGGAGAAGACGCCATGTGCATGGAACTCCTCCCGCACCTGCGAATGTCGAC
CTGGCATGATCTGTGCCACATCAGCCACCAACTCCTGTGCCCGCTGTGTCCCCTACCCAATCTGTGCAGCAGAGACGGTCACCAAGCCCCAGGATATGGCTGAGAAGGACACCACCTTTGAGGCGCCA
CCCCTGGGGACCCAGCCGGACTGCAACCCCACCCCAGAGAATGGCGAGGCGCCTGCCAGCACCAGCCCCACTCAGAGCTTGCTGGTGGACTCCCAGGCCAGTAAGACGCTGCCCATCCCAACCAGCGC
TCCCGTCGCTCTCTCCTCCACGGGGAAGCCCGTTCTGGATGCAGGGCCAGTGCTCTTCTGGGTGATCCTGGTGTTGGTTGTGGTGGTCGGCTCCAGCGCCTTCCTCCTGTGCCACCGGAGGGCCTGCA
GGAAGCGAATTCGGCAGAAGCTCCACCTGTGCTACCCGGTCCAGACCTCCCAGCCCAAGCTAGAGCTTGTGGATTCCAGACCCAGGAGGAGCTCAACGCAGCTGAGGAGTGGTGCGTCGGTGACAGAA
CCCGTCGCGGAAGAGCGAGGGTTAATGAGCCAGCCACTGATGGAGACCTGCCACAGCGTGGGGGCAGCCTACCTGGAGAGCCTGCCGCTGCAGGATGCCAGCCCGGCCGGGGGCCCCTCGTCCCCCAG
GGACCTTCCTGAGCCCCGGGTGTCCACGGAGCACACCAATAACAAGATTGAGAAAATCTACATCATGAAGGCTGACACCGTGATCGTGGGGACCGTGAAGGCTGAGCTGCCGGAGGGCCGGGGCCTGG
CGGGGCCAGCAGAGCCCGAGTTGGAGGAGGAGCTGGAGGCGGACCATACCCCCCACTACCCCGAGCAGGAGACAGAACCGCCTCTGGGCAGCTGCAGCGATGTCATGCTCTCAGTGGAAGAGGAAGGG
AAAGAAGACCCCTTGCCCACAGCTGCCTCTGGAAAGTGAGGCCTGGGCTGGGCTGGGGCTAGGAGGGCAGCAGGGTGGCCTCTGGGAGGCCAGGATGGCACTGTTGGCACCGAGGTTGGGGGCAGAGG
CCCATCTGGCCTGAACTGAGGCTCCAGCATCTAGTGGTGGACCGGCCGGTCACTGCAGGGGTCTGGTGGTCTCTGCTTGCATCCCCAACTTAGCTGTCCCCTGACCCAGAGCCTAGGGGATCCGGGGC
TTGTACAGAAGAGACAGTCCAAGGGGACTGGATCCCAGCAGTGATGTTGGTTGAGGCAGCAAACAGATGGCAGGATGGGCACTGCCGAGAACAGCATTGGTCCCAGAGCCCTGGGCATCAGACCTTAA
CCACCAGGCCCACAGCCCAGCGAGGGAGAGGTCGTGAGGCCAGCTCCCGGGGCCCCTGTAACCCTACTCTCCTCTCTCCCTGGACCTCAGAGGTGACACCCATTGGGCCCTTCCGGCATGCCCCCAGT
TACTGTAAATGTGGCCCCCAGTGGGCATGGAGCCAGTGCCTGTGGTTGTTTCTCCAGAGTCAAAAGGGAAGTCGAGGGATGGGGCGTCGTCAGCTGGCACTGTCTCTGCTGCAGCGGCCACACTGTAC
TCTGCACTGGTGTGAGGGCCCCTGCCTGGACTGTGGGACCCTCCTGGTGCTGCCCACCTTCCCTGTCCTGTAGCCCCCTCGGTGGGCCCAGGGCCTAGGGCCCAGGATCAAGTCACTCATCTCAGAAT
GTCCCCACCAATCCCCGCCACAGCAGGCGCCTCGGGTCCCAGATGTCTGCAGCCCTCAGCAGCTGCAGACCGCCCCTCACCAACCCAGAGAACCTGCTTTACTTTGCCCAGGGACTTCCTCCCCATGT
GAACATGGGGAACTTCGGGCCCTGCCTGGAGTCCTTGACCGCTCTCTGTGGGCCCCACCCACTCTGTCCTGGGAAATGAAGAAGCATCTTCCTTAGGTCTGCCCTGCTTGCAAATCCACTAGCACCGA
CCCCACCACCTGGTTCCGGCTCTGCACGCTTTGGGGTGTGGATGTCGAGAGGCACCACGGCCTCACCCAGGCATCTGCTTTACTCTGGACCATAGGAAACAAGACCGTTTGGAGGTTTCATCAGGATT
TTGGGTTTTTCACATTTCACGCTAAGGAGTAGTGGCCCTGACTTCCGGTCGGCTGGCCAGCTGACTCCCTAGGGCCTTCAGACGTGTATGCAAATGAGTGATGGATAAGGATGAGTCTTGGAGTTGCG
GGCAGCCTGGAGACTCGTGGACTTACCGCCTGGAGGCAGGCCCGGGAAGGCTGCTGTTTACTCATCGGGCAGCCACGTGCTCTCTGGAGGAAGTGATAGTTTCTGAAACCGCTCAGATGTTTTGGGGA
AAGTTGGAGAAGCCGTGGCCTTGCGAGAGGTGGTTACACCAGAACCTGGACATTGGCCAGAAGAAGCTTAAGTGGGCAGACACTGTTTGCCCAGTGTTTGTGCAAGGATGGAGTGGGTGTCTCTGCAT
CACCCACAGCCGCAGCTGTAAGGCACGCTGGAAGGCACACGCCTGCCAGGCAGGGCAGTCTGGCGCCCATGATGGGAGGGATTGACATGTTTCAACAAAATAATGCACTTCCTTACCTAGTGGCCCTT
CACACAACTTTTGAATCTCTAAAAATCCATAAAATCCTTAAAGAACTGTAAGGCTGA

hide sequence

RefSeq Acc Id:

XM_047434793 ⟹ XP_047290749

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI

RefSeq Acc Id:

XM_047434799 ⟹ XP_047290755

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,144,207 (+)	NCBI

RefSeq Acc Id:

XM_054339680 ⟹ XP_054195655

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI

RefSeq Acc Id:

XM_054339681 ⟹ XP_054195656

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI

RefSeq Acc Id:

XM_054339682 ⟹ XP_054195657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	11,607,442 - 11,688,342 (+)	NCBI

RefSeq Acc Id:

XM_054339683 ⟹ XP_054195658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	1	11,640,453 - 11,688,342 (+)	NCBI


Protein RefSeqs	NP_001234	(Get FASTA)	NCBI Sequence Viewer
	NP_001268359	(Get FASTA)	NCBI Sequence Viewer
	XP_011540743	(Get FASTA)	NCBI Sequence Viewer
	XP_011540745	(Get FASTA)	NCBI Sequence Viewer
	XP_047290749	(Get FASTA)	NCBI Sequence Viewer
	XP_047290755	(Get FASTA)	NCBI Sequence Viewer
	XP_054195655	(Get FASTA)	NCBI Sequence Viewer
	XP_054195656	(Get FASTA)	NCBI Sequence Viewer
	XP_054195657	(Get FASTA)	NCBI Sequence Viewer
	XP_054195658	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA51947	(Get FASTA)	NCBI Sequence Viewer
	AAC83939	(Get FASTA)	NCBI Sequence Viewer
	AAD14188	(Get FASTA)	NCBI Sequence Viewer
	AAH63482	(Get FASTA)	NCBI Sequence Viewer
	AAH73839	(Get FASTA)	NCBI Sequence Viewer
	AAI36401	(Get FASTA)	NCBI Sequence Viewer
	AAI41805	(Get FASTA)	NCBI Sequence Viewer
	AAR32099	(Get FASTA)	NCBI Sequence Viewer
	BAA12973	(Get FASTA)	NCBI Sequence Viewer
	CAC03488	(Get FASTA)	NCBI Sequence Viewer
	CAC16652	(Get FASTA)	NCBI Sequence Viewer
	CBX47561	(Get FASTA)	NCBI Sequence Viewer
	CBX47562	(Get FASTA)	NCBI Sequence Viewer
	CBX53846	(Get FASTA)	NCBI Sequence Viewer
	CBX53847	(Get FASTA)	NCBI Sequence Viewer
	EAW71730	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000263932
	ENSP00000263932.2
	ENSP00000390650
	ENSP00000390650.2
	ENSP00000398337.2
GenBank Protein	P28908	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001234 ⟸ NM_001243
- Peptide Label:	isoform 1 precursor
- UniProtKB:	D3YTD8 (UniProtKB/Swiss-Prot), B9EGD9 (UniProtKB/Swiss-Prot), B1AN79 (UniProtKB/Swiss-Prot), Q6P4D9 (UniProtKB/Swiss-Prot), P28908 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFH SVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRC TACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDA GPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNN KIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK hide sequence

RefSeq Acc Id:	NP_001268359 ⟸ NM_001281430
- Peptide Label:	isoform 3
- UniProtKB:	P28908 (UniProtKB/Swiss-Prot), A5D8T4 (UniProtKB/TrEMBL)
- Sequence:	show sequence MFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGD CRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIP TSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSS PRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK hide sequence

RefSeq Acc Id:

XP_011540743 ⟸ XM_011542441

- Peptide Label:

isoform X1

- Sequence:

show sequence

MRVLLAALGLLFLGALRAFPQDRPFEDTCHGNPSHYYDKAVRRCCYRCPMGLFPTQQCPQRPTDCRKQCEPDYYLDEADRCTACVTCSRDDLVEKTPCAWNSSRVCECRPGMFCSTSAVNSCARCFFH
SVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGDCRKQCEPDYYLDEAGRC
TACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIPTSAPVALSSTGKPVLDA
GPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPSSPRDLPEPRVSTEHTNNK
IEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK

hide sequence

RefSeq Acc Id:

XP_011540745 ⟸ XM_011542443

- Peptide Label:

isoform X4

- Sequence:

show sequence

MFCSTSAVNSCARCFFHSVCPAGMIVKFPGTAQKNTVCEPASPGVSPACASPENCKEPSSGTIPQAKPTPVSPATSSASTMPVRGGTRLAQEAASKLTRAPDSPSSVGRPSSDPGLSPTQPCPEGSGD
CRKQCEPDYYLDEAGRCTACVSCSRDDLVEKTPCAWNSSRTCECRPGMICATSATNSCARCVPYPICAAETVTKPQDMAEKDTTFEAPPLGTQPDCNPTPENGEAPASTSPTQSLLVDSQASKTLPIP
TSAPVALSSTGKPVLDAGPVLFWVILVLVVVVGSSAFLLCHRRACRKRIRQKLHLCYPVQTSQPKLELVDSRPRRSSTQLRSGASVTEPVAEERGLMSQPLMETCHSVGAAYLESLPLQDASPAGGPS
SPRDLPEPRVSTEHTNNKIEKIYIMKADTVIVGTVKAELPEGRGLAGPAEPELEEELEADHTPHYPEQETEPPLGSCSDVMLSVEEEGKEDPLPTAASGK

hide sequence

Ensembl Acc Id:

ENSP00000398337 ⟸ ENST00000413146

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P28908-F1-model_v2	AlphaFold	P28908	1-595	view protein structure

RGD ID:

6785202

Promoter ID:

HG_KWN:731

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid

Transcripts:

ENST00000376269, NM_001243

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	12,045,789 - 12,046,289 (+)	MPROMDB

RGD ID:

6854136

Promoter ID:

EPDNEW_H233

Type:

initiation region

Name:

TNFRSF8_1

Description:

TNF receptor superfamily member 8

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H234 EPDNEW_H235

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,303 - 12,063,363	EPDNEW

RGD ID:

6854138

Promoter ID:

EPDNEW_H234

Type:

initiation region

Name:

TNFRSF8_3

Description:

TNF receptor superfamily member 8

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H233 EPDNEW_H235

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,063,598 - 12,063,658	EPDNEW

RGD ID:

6787041

Promoter ID:

HG_KWN:733

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000005131, UC001ATS.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	1	12,107,676 - 12,109,027 (+)	MPROMDB

RGD ID:

6854140

Promoter ID:

EPDNEW_H235

Type:

initiation region

Name:

TNFRSF8_2

Description:

TNF receptor superfamily member 8

SO ACC ID:

SO:0000170

Source:

EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)

Alternative Promoters:

null; see alsoEPDNEW_H233 EPDNEW_H234

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	1	12,125,955 - 12,126,015	EPDNEW

Database	Acc Id	Source(s)
COSMIC	TNFRSF8	COSMIC
Ensembl Genes	ENSG00000120949	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000263932	ENTREZGENE
	ENST00000263932.7	UniProtKB/Swiss-Prot
	ENST00000413146.6	UniProtKB/Swiss-Prot
	ENST00000417814	ENTREZGENE
	ENST00000417814.3	UniProtKB/Swiss-Prot
Gene3D-CATH	Tumor Necrosis Factor Receptor, subunit A, domain 2	UniProtKB/Swiss-Prot
GTEx	ENSG00000120949	GTEx
HGNC ID	HGNC:11923	ENTREZGENE
Human Proteome Map	TNFRSF8	Human Proteome Map
InterPro	TNFR/NGFR_Cys_rich_reg	UniProtKB/Swiss-Prot
	TNFR_8	UniProtKB/Swiss-Prot
	TNFR_superfamily_member_8	UniProtKB/Swiss-Prot
	TNFRSF8_N	UniProtKB/Swiss-Prot
KEGG Report	hsa:943	UniProtKB/Swiss-Prot
NCBI Gene	943	ENTREZGENE
OMIM	153243	OMIM
PANTHER	TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 8	UniProtKB/Swiss-Prot
	TUMOR NECROSIS FACTOR RECEPTOR SUPERFAMILY MEMBER 8	UniProtKB/Swiss-Prot
Pfam	TNFR_c6	UniProtKB/Swiss-Prot
PharmGKB	PA36616	PharmGKB
PRINTS	TNFACTORR8	UniProtKB/Swiss-Prot
PROSITE	TNFR_NGFR_1	UniProtKB/Swiss-Prot
	TNFR_NGFR_2	UniProtKB/Swiss-Prot
SMART	TNFR	UniProtKB/Swiss-Prot
Superfamily-SCOP	TNF receptor-like	UniProtKB/Swiss-Prot
UniProt	A5D8T4	ENTREZGENE, UniProtKB/TrEMBL
	B1AN79	ENTREZGENE
	B9EGD9	ENTREZGENE
	D3YTD8	ENTREZGENE
	D6RAG8_HUMAN	UniProtKB/TrEMBL
	P28908	ENTREZGENE
	Q6GMU3_HUMAN	UniProtKB/TrEMBL
	Q6P4D9	ENTREZGENE
	TNR8_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B1AN79	UniProtKB/Swiss-Prot
	B9EGD9	UniProtKB/Swiss-Prot
	D3YTD8	UniProtKB/Swiss-Prot
	Q6P4D9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-06-30	TNFRSF8	TNF receptor superfamily member 8	TNFRSF8	tumor necrosis factor receptor superfamily member 8	Symbol and/or name change	5135510	APPROVED
2015-11-24	TNFRSF8	tumor necrosis factor receptor superfamily member 8	TNFRSF8	tumor necrosis factor receptor superfamily, member 8	Symbol and/or name change	5135510	APPROVED

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailable


InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailable


Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
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MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

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