TRADD (TNFRSF1A associated via death domain)

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Gene: TRADD (TNFRSF1A associated via death domain) Homo sapiens

Analyze

Symbol:

TRADD

Name:

TNFRSF1A associated via death domain

RGD ID:

1350695

HGNC Page

HGNC

Description:

Exhibits death domain binding activity; identical protein binding activity; and transmembrane receptor protein tyrosine kinase adaptor activity. Involved in several processes, including cellular response to tumor necrosis factor; positive regulation of NF-kappaB transcription factor activity; and positive regulation of intracellular signal transduction. Localizes to cytoplasm; plasma membrane; and tumor necrosis factor receptor superfamily complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Also known as:

Hs.89862; MGC11078; TNFR1-associated death domain protein; TNFRSF1A-associated via death domain; tumor necrosis factor receptor type 1 associated death domain protein; tumor necrosis factor receptor type 1-associated DEATH domain protein; tumor necrosis factor receptor-1-associated protein

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 Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	67,154,185 - 67,159,909 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	67,154,185 - 67,159,909 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	67,188,088 - 67,193,812 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	65,745,589 - 65,751,313 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	65,745,604 - 65,747,759	NCBI
Celera	16	51,696,331 - 51,702,055 (-)	NCBI
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,061,605 - 53,067,329 (-)	NCBI		HuRef
CHM1_1	16	68,595,406 - 68,601,130 (-)	NCBI		CHM1_1

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

Liver Reperfusion Injury (ISO)

Optic Nerve Injuries (ISO)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

1'-acetoxychavicol acetate (EXP)

1,1,1-Trichloro-2-(o-chlorophenyl)-2-(p-chlorophenyl)ethane (ISO)

1,2-dimethylhydrazine (ISO)

17beta-estradiol (EXP)

2,2',4,4'-Tetrabromodiphenyl ether (EXP)

2,3,7,8-tetrachlorodibenzodioxine (EXP,ISO)

2,4-dinitrotoluene (ISO)

2,6-dinitrotoluene (ISO)

3-isobutyl-1-methyl-7H-xanthine (EXP)

6-propyl-2-thiouracil (ISO)

all-trans-retinoic acid (EXP)

Aloe emodin (EXP)

ammonium chloride (ISO)

Anacardic acid (EXP)

antirheumatic drug (EXP)

arsane (EXP)

arsenic atom (EXP)

beta-naphthoflavone (ISO)

bis(2-chloroethyl) sulfide (ISO)

bis(2-ethylhexyl) phthalate (EXP)

bisphenol A (ISO)

bisphenol F (EXP)

cadmium atom (EXP)

chromium(6+) (EXP)

cisplatin (EXP)

clofibrate (ISO)

copper atom (EXP)

copper(0) (EXP)

copper(II) sulfate (EXP)

coumarin (EXP)

curcumin (EXP)

cylindrospermopsin (EXP)

dexamethasone (EXP)

diazinon (ISO)

dieldrin (ISO)

dioscin (EXP)

disodium selenite (EXP)

dorsomorphin (EXP)

entinostat (EXP)

ethanol (ISO)

folic acid (ISO)

hesperidin (EXP)

hydrogen peroxide (EXP)

hydroquinone (EXP)

hydroxyurea (EXP)

indometacin (EXP)

irinotecan (EXP)

kojic acid (ISO)

leflunomide (EXP)

mangiferin (ISO)

melatonin (ISO)

menadione (EXP)

mercury atom (ISO)

mercury(0) (ISO)

metformin (EXP)

methotrexate (EXP)

monocrotaline (ISO)

N-nitrosodiethylamine (ISO)

nickel atom (EXP)

nickel dichloride (ISO)

nitrates (ISO)

o-anisidine (EXP)

p-menthan-3-ol (EXP)

paclitaxel (EXP)

paracetamol (ISO)

paraquat (EXP)

parthenolide (EXP)

pentachlorophenol (EXP)

perfluorooctane-1-sulfonic acid (ISO)

phenobarbital (EXP)

phenylmercury acetate (EXP)

phenytoin (ISO)

progesterone (ISO)

propylparaben (EXP)

quercetin (EXP)

quercetin 3-O-beta-D-glucofuranoside (ISO)

quercetin 3-O-beta-D-glucopyranoside (ISO)

Rhein (EXP)

rifampicin (ISO)

SB 431542 (EXP)

simvastatin (EXP)

sodium arsenate (EXP)

sodium arsenite (EXP,ISO)

trichostatin A (EXP)

triclosan (EXP)

valproic acid (EXP,ISO)

vorinostat (EXP)

zerumbone (EXP)

zoledronic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

activation of cysteine-type endopeptidase activity involved in apoptotic process (TAS)

apoptotic process (TAS)

cellular response to tumor necrosis factor (IMP)

death-inducing signaling complex assembly (TAS)

extrinsic apoptotic signaling pathway (IBA,IMP,ISO,TAS)

extrinsic apoptotic signaling pathway via death domain receptors (TAS)

I-kappaB kinase/NF-kappaB signaling (TAS)

negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (TAS)

positive regulation of apoptotic process (TAS)

positive regulation of cell migration (IMP)

positive regulation of hair follicle development (IEA,ISO)

positive regulation of I-kappaB kinase/NF-kappaB signaling (IEP)

positive regulation of inflammatory response (IMP)

positive regulation of NF-kappaB transcription factor activity (IMP,TAS)

positive regulation of NIK/NF-kappaB signaling (IMP)

regulation of extrinsic apoptotic signaling pathway via death domain receptors (TAS)

regulation of tumor necrosis factor-mediated signaling pathway (TAS)

signal transduction (TAS)

transmembrane receptor protein tyrosine kinase signaling pathway (IEA)

tumor necrosis factor-mediated signaling pathway (TAS)

Cellular Component

cytoplasm (IDA,ISO)

cytoskeleton (IEA)

cytosol (TAS)

death-inducing signaling complex (TAS)

membrane raft (IEA,ISO)

nucleus (IEA)

plasma membrane (IDA)

protein-containing complex (ISO)

receptor complex (IDA)

tumor necrosis factor receptor superfamily complex (IBA,IDA)

Molecular Function

death domain binding (IPI)

identical protein binding (IPI)

kinase binding (IPI)

protein binding (IPI,ISO)

protein-containing complex binding (IEA,ISO)

transmembrane receptor protein tyrosine kinase adaptor activity (IBA,IPI)

tumor necrosis factor receptor binding (IEA,ISO)

Molecular Pathway Annotations Click to see Annotation Detail View

apoptotic cell death pathway (IEA)

ceramide signaling pathway (EXP)

hepatitis C pathway (IEA)

Retinoic acid-inducible gene (RIG) I-like receptor signaling pathway (IEA)

Toll-like receptor signaling pathway (TAS)

Trail mediated signaling pathway (EXP)

tuberculosis pathway (IEA)

tumor necrosis factor mediated signaling pathway (EXP,TAS)

References

References - curated


1.	Agudo M, etal., Mol Vis. 2008 Jun 3;14:1050-63.
2.	GOA_HUMAN data from the GO Consortium
3.	Kim SJ, etal., Shock. 2013 Apr;39(4):380-8. doi: 10.1097/SHK.0b013e31828aab7f.
4.	Kumar H, etal., Int Rev Immunol. 2011 Feb;30(1):16-34.
5.	Pipeline to import KEGG annotations from KEGG into RGD
6.	Pipeline to import Pathway Interaction Database annotations from NCI into RGD
7.	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8.	RGD automated import pipeline for gene-chemical interactions
9.	Wajant H, etal., Cell Death Differ. 2003 Jan;10(1):45-65.

Additional References at PubMed

PMID:1040062	PMID:7758105	PMID:8565075	PMID:8612133	PMID:8621670	PMID:8681376	PMID:8702708	PMID:8934525	PMID:8943045	PMID:8985253	PMID:9020361	PMID:9082980
PMID:9356494	PMID:9427646	PMID:9430227	PMID:9560245	PMID:9714541	PMID:9915703	PMID:9916731	PMID:9916988	PMID:10187805	PMID:10356400	PMID:10400625	PMID:10544141
PMID:10848577	PMID:10892748	PMID:10911999	PMID:10980203	PMID:11032752	PMID:11035039	PMID:11112409	PMID:11112773	PMID:11181075	PMID:11226577	PMID:11374864	PMID:11435712
PMID:11479302	PMID:11684708	PMID:11821416	PMID:11934887	PMID:12045187	PMID:12107169	PMID:12417987	PMID:12446787	PMID:12477932	PMID:12576460	PMID:12604596	PMID:12665801
PMID:12753742	PMID:12761501	PMID:12796506	PMID:12887920	PMID:12911633	PMID:14585990	PMID:14644197	PMID:14660619	PMID:14702039	PMID:14743216	PMID:15103018	PMID:15247912
PMID:15310755	PMID:15485837	PMID:15489334	PMID:15707590	PMID:15761471	PMID:16006552	PMID:16227624	PMID:16344560	PMID:16603398	PMID:16611992	PMID:17051333	PMID:17235653
PMID:17540176	PMID:17567906	PMID:17702576	PMID:17922260	PMID:18174230	PMID:18198944	PMID:18309324	PMID:18661484	PMID:18776134	PMID:18939944	PMID:18990758	PMID:19151112
PMID:19176810	PMID:19287455	PMID:19336370	PMID:19379743	PMID:19453261	PMID:19524513	PMID:19573080	PMID:19641494	PMID:19773279	PMID:19781631	PMID:19815541	PMID:19854717
PMID:20005846	PMID:20568250	PMID:20628368	PMID:21068102	PMID:21421854	PMID:21724995	PMID:21813773	PMID:21873635	PMID:22099304	PMID:22170762	PMID:22179575	PMID:22297296
PMID:22333735	PMID:22510408	PMID:22561347	PMID:23429285	PMID:23732909	PMID:23908590	PMID:23955153	PMID:23982205	PMID:24025841	PMID:24070137	PMID:24130170	PMID:24361886
PMID:24374337	PMID:24686082	PMID:24735611	PMID:24758719	PMID:24980434	PMID:25033841	PMID:25230327	PMID:25643035	PMID:25732226	PMID:25791120	PMID:26475675	PMID:26496610
PMID:26673895	PMID:26760575	PMID:27197753	PMID:27270888	PMID:27307491	PMID:27458237	PMID:27545878	PMID:27552911	PMID:27562714	PMID:27768232	PMID:27960153	PMID:28337828
PMID:28514442	PMID:28611389	PMID:28698006	PMID:28765645	PMID:29108854	PMID:29656893	PMID:30021884	PMID:30420664	PMID:30561431	PMID:32007500	PMID:32296183	PMID:32303335
PMID:32968279

Genomics

Comparative Map Data

TRADD
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38.p13 Ensembl	16	67,154,185 - 67,159,909 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh38	16	67,154,185 - 67,159,909 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh37	16	67,188,088 - 67,193,812 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	65,745,589 - 65,751,313 (-)	NCBI	NCBI36		hg18	NCBI36
Build 34	16	65,745,604 - 65,747,759	NCBI
Celera	16	51,696,331 - 51,702,055 (-)	NCBI
Cytogenetic Map	16	q22.1	NCBI
HuRef	16	53,061,605 - 53,067,329 (-)	NCBI		HuRef
CHM1_1	16	68,595,406 - 68,601,130 (-)	NCBI		CHM1_1

Tradd
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	8	105,985,207 - 105,991,226 (-)	NCBI	GRCm39		mm39
GRCm39 Ensembl	8	105,984,918 - 105,991,241 (-)	Ensembl
GRCm38	8	105,258,575 - 105,264,594 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	8	105,258,286 - 105,264,609 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	8	107,782,475 - 107,788,494 (-)	NCBI	GRCm37		mm9	NCBIm37
MGSCv36	8	108,147,704 - 108,153,723 (-)	NCBI			mm8
Celera	8	109,481,639 - 109,487,742 (-)	NCBI		Celera
Cytogenetic Map	8	D3	NCBI
cM Map	8	53.04	NCBI

Tradd
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
mRatBN7.2	19	33,136,148 - 33,142,714 (-)	NCBI
Rnor_6.0 Ensembl	19	37,214,471 - 37,216,572 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_6.0	19	37,214,461 - 37,221,099 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_5.0	19	48,081,076 - 48,086,774 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	19	35,073,150 - 35,075,251 (-)	NCBI	RGSC3.4		rn4	RGSC3.4
RGSC_v3.1	19	35,078,569 - 35,079,048 (-)	NCBI
Celera	19	32,565,129 - 32,567,230 (-)	NCBI		Celera
Cytogenetic Map	19	q11	NCBI

Tradd
(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 Ensembl	NW_004955484	9,456,301 - 9,462,425 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955484	9,456,268 - 9,462,425 (+)	NCBI	ChiLan1.0	ChiLan1.0

TRADD
(Pan paniscus - bonobo/pygmy chimpanzee)

Bonobo Assembly	Chr	Position (strand)	Source	Genome Browsers
Bonobo Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
PanPan1.1	16	66,888,543 - 66,892,501 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	66,889,006 - 66,891,016 (-)	Ensembl	panpan1.1		panPan2
Mhudiblu_PPA_v0	16	47,499,881 - 47,506,220 (-)	NCBI	Mhudiblu_PPA_v0		panPan3

TRADD
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1 Ensembl	5	82,206,111 - 82,210,963 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
CanFam3.1	5	82,200,430 - 82,211,430 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1

Tradd
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)

Squirrel Assembly	Chr	Position (strand)	Source	Genome Browsers
Squirrel Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
SpeTri2.0	NW_004936475	17,628,297 - 17,634,919 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

TRADD
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	27,797,607 - 27,804,423 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	27,797,594 - 27,804,654 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

TRADD
(Chlorocebus sabaeus - African green monkey)

Vervet Assembly	Chr	Position (strand)	Source	Genome Browsers
Vervet Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
ChlSab1.1	5	60,296,777 - 60,303,076 (+)	NCBI
ChlSab1.1 Ensembl	5	60,297,375 - 60,303,579 (+)	Ensembl

Tradd
(Heterocephalus glaber - naked mole-rat)

Molerat Assembly	Chr	Position (strand)	Source	Genome Browsers
Molerat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624746	19,155,058 - 19,165,702 (+)	NCBI

Position Markers

TRADD_1477

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,188,061 - 67,188,842	UniSTS	GRCh37
Build 36	16	65,745,562 - 65,746,343	RGD	NCBI36
Celera	16	51,696,304 - 51,697,085	RGD
HuRef	16	53,061,578 - 53,062,359	UniSTS

RH78922

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,188,201 - 67,188,377	UniSTS	GRCh37
Build 36	16	65,745,702 - 65,745,878	RGD	NCBI36
Celera	16	51,696,444 - 51,696,620	RGD
Cytogenetic Map	16	q22	UniSTS
HuRef	16	53,061,718 - 53,061,894	UniSTS
GeneMap99-GB4 RH Map	16	404.27	UniSTS
NCBI RH Map	16	508.6	UniSTS

RH69054

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	67,188,260 - 67,188,381	UniSTS	GRCh37
Build 36	16	65,745,761 - 65,745,882	RGD	NCBI36
Celera	16	51,696,503 - 51,696,624	RGD
Cytogenetic Map	16	q22	UniSTS
HuRef	16	53,061,777 - 53,061,898	UniSTS
GeneMap99-GB4 RH Map	16	401.5	UniSTS
NCBI RH Map	16	508.6	UniSTS

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1650
Count of miRNA genes:	726
Interacting mature miRNAs:	851
Transcripts:	ENST00000345057, ENST00000486556, ENST00000563348, ENST00000566104, ENST00000566247
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

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

Medium

2359

2120

1451

371

1766

213

3335

967

1142

366

1130

1546

169

1188

1968

Low

871

275

253

181

252

939

1230

2583

329

820

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001323552	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_003789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005256213	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017023815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC074143	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ307882	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311614	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311615	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AJ311616	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK090673	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK301593	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315654	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY575851	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY995114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC004491	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG717460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ707739	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT006934	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA426418	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471092	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA353575	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HD119556	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	L41690	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Reference Sequences

RefSeq Acc Id:

ENST00000345057 ⟹ ENSP00000341268

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	67,154,185 - 67,159,909 (-)	Ensembl

RefSeq Acc Id:

ENST00000486556 ⟹ ENSP00000462591

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	67,154,199 - 67,156,249 (-)	Ensembl

RefSeq Acc Id:

ENST00000563348

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	67,155,539 - 67,156,681 (-)	Ensembl

RefSeq Acc Id:

ENST00000566104

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	67,155,751 - 67,159,898 (-)	Ensembl

RefSeq Acc Id:

ENST00000566247

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p13 Ensembl	16	67,154,833 - 67,155,418 (-)	Ensembl

RefSeq Acc Id:

NM_001323552 ⟹ NP_001310481

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,154,185 - 67,159,909 (-)	NCBI
CHM1_1	16	68,595,406 - 68,601,130 (-)	NCBI

Sequence:

show sequence

GCACACCCGGAAGCGGCGGAGTAGAGCGGAGCCTGGCGGGCGTGGGAACCCAGGCCCCGCCGAG
GCGGCCAGGTTAGTGCAGCAGGAGGTGAGATGGCAGCTGGGCAAAATGGGCACGAAGAGTGGGT
GGGCAGCGCATACCTGTTTGTGGAGTCCTCGCTGGACAAGGTGGTCCTGTCGGATGCCTACGCG
CACCCCCAGCAGAAGGTGGCAGTGTACAGGGCTCTGCAGGCTGCCTTGGCAGAGAGCGGCGGGA
GCCCGGACGTGCTGCAGATGCTGAAGATCCACCGCAGCGACCCGCAGCTGATCGTGCAGCTGCG
ATTCTGCGGGCGGCAGCCCTGTGGCCGCTTCCTCCGCGCCTACCGCGAGGGGGCGCTGCGCGCC
GCGCTGCAGAGGAGCCTGGCGGCCGCGCTCGCCCAGCACTCGGTGCCGCTGCAACTGGAGCTGC
GCGCCGGCGCCGAGCGGCTGGACGCTTTGCTGGCGGACGAGGAGCGCTGTTTGAGTTGCATCCT
AGCCCAGCAGCCCGACCGGCTCCGGGATGAAGAACTGGCTGAGCTGGAGGATGCGCTGCGAAAT
CTGAAGTGCGGCTCGGGGGCCCGGGGTGGCGACGGGGAGGTCGCTTCGGCCCCCTTGCAGCCCC
CGGTGCCCTCTCTGTCGGAGGTGAAGCCGCCGCCGCCGCCGCCACCTGCCCAGACTTTTCTGTT
CCAGGGTCAGCCTGTAGTGAATCGGCCGCTGAGCCTGAAGGACCAACAGACGTTCGCGCGCTCT
GTGGGTCTCAAATGGCGCAAGGTGGGGCGCTCACTGCAGCGAGGCTGCCGGGCGCTGCGGGACC
CGGCGCTGGACTCGCTGGCCTACGAGTACGAGCGCGAGGGACTGTACGAGCAGGCCTTCCAGCT
GCTGCGGCGCTTCGTGCAGGCCGAGGGCCGCCGCGCCACGCTGCAGCGCCTGGTGGAGGCACTC
GAGGAGAACGAGCTCACCAGCCTGGCAGAGGACTTGCTGGGCCTGACCGATCCCAATGGCGGCC
TGGCCTAGACCAGGGGTGCAGCCAGCTTTTGGAGAACCTGGATGGCCTTAGGGTTCCTTCTGCG
GCTATTGCTGAACCCCTGTCCATCCACGGGACCCTGAAACTCCACTTGGCCTATCTGCTGGACC
TGCTGGGGCAGAGTTGATTGCCTTCCCCAGGAGCCAGACCACTGGGGGTGCATCATTGGGGATT
CTGCCTCAGGTACTTTGATAGAGTGTGGGGTGGGGGGGACCTGCTTTGGAGATCAGCCTCACCT
TCTCCCATCCCAGAAGCGGGGCTTACAGCCAGCCCTTACAGTTTCACTCATGAAGCACCTTGAT
CTTTGGTGTCCTGGACTTCATCCTGGGTGCTGCAGATACTGCAGTGAAGTAAAACAGGAATCAA
TCTTGCCTGCCCCCAGCTCACACTCAGCGTGGGACCCCGAATGTTAAGCAATGATAATAAAGTA
TAACACGGATTTTGATGTGAGAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

NM_003789 ⟹ NP_003780

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,154,185 - 67,159,909 (-)	NCBI
GRCh37	16	67,188,088 - 67,193,812 (-)	ENTREZGENE
GRCh37	16	67,188,088 - 67,193,812 (-)	NCBI
Build 36	16	65,745,589 - 65,751,313 (-)	NCBI Archive
HuRef	16	53,061,605 - 53,067,329 (-)	ENTREZGENE
CHM1_1	16	68,595,406 - 68,601,130 (-)	NCBI

Sequence:

show sequence

GCACACCCGGAAGCGGCGGAGTAGAGCGGAGCCTGGCGGGCGTGGGAACCCAGGCCCCGCCGAG
GCGGCCAGGAGGTGAGATGGCAGCTGGGCAAAATGGGCACGAAGAGTGGGTGGGCAGCGCATAC
CTGTTTGTGGAGTCCTCGCTGGACAAGGTGGTCCTGTCGGATGCCTACGCGCACCCCCAGCAGA
AGGTGGCAGTGTACAGGGCTCTGCAGGCTGCCTTGGCAGAGAGCGGCGGGAGCCCGGACGTGCT
GCAGATGCTGAAGATCCACCGCAGCGACCCGCAGCTGATCGTGCAGCTGCGATTCTGCGGGCGG
CAGCCCTGTGGCCGCTTCCTCCGCGCCTACCGCGAGGGGGCGCTGCGCGCCGCGCTGCAGAGGA
GCCTGGCGGCCGCGCTCGCCCAGCACTCGGTGCCGCTGCAACTGGAGCTGCGCGCCGGCGCCGA
GCGGCTGGACGCTTTGCTGGCGGACGAGGAGCGCTGTTTGAGTTGCATCCTAGCCCAGCAGCCC
GACCGGCTCCGGGATGAAGAACTGGCTGAGCTGGAGGATGCGCTGCGAAATCTGAAGTGCGGCT
CGGGGGCCCGGGGTGGCGACGGGGAGGTCGCTTCGGCCCCCTTGCAGCCCCCGGTGCCCTCTCT
GTCGGAGGTGAAGCCGCCGCCGCCGCCGCCACCTGCCCAGACTTTTCTGTTCCAGGGTCAGCCT
GTAGTGAATCGGCCGCTGAGCCTGAAGGACCAACAGACGTTCGCGCGCTCTGTGGGTCTCAAAT
GGCGCAAGGTGGGGCGCTCACTGCAGCGAGGCTGCCGGGCGCTGCGGGACCCGGCGCTGGACTC
GCTGGCCTACGAGTACGAGCGCGAGGGACTGTACGAGCAGGCCTTCCAGCTGCTGCGGCGCTTC
GTGCAGGCCGAGGGCCGCCGCGCCACGCTGCAGCGCCTGGTGGAGGCACTCGAGGAGAACGAGC
TCACCAGCCTGGCAGAGGACTTGCTGGGCCTGACCGATCCCAATGGCGGCCTGGCCTAGACCAG
GGGTGCAGCCAGCTTTTGGAGAACCTGGATGGCCTTAGGGTTCCTTCTGCGGCTATTGCTGAAC
CCCTGTCCATCCACGGGACCCTGAAACTCCACTTGGCCTATCTGCTGGACCTGCTGGGGCAGAG
TTGATTGCCTTCCCCAGGAGCCAGACCACTGGGGGTGCATCATTGGGGATTCTGCCTCAGGTAC
TTTGATAGAGTGTGGGGTGGGGGGGACCTGCTTTGGAGATCAGCCTCACCTTCTCCCATCCCAG
AAGCGGGGCTTACAGCCAGCCCTTACAGTTTCACTCATGAAGCACCTTGATCTTTGGTGTCCTG
GACTTCATCCTGGGTGCTGCAGATACTGCAGTGAAGTAAAACAGGAATCAATCTTGCCTGCCCC
CAGCTCACACTCAGCGTGGGACCCCGAATGTTAAGCAATGATAATAAAGTATAACACGGATTTT
GATGTGAGAAAAAAAAAAAAAAAA

hide sequence

RefSeq Acc Id:

XM_005256213 ⟹ XP_005256270

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,154,185 - 67,159,904 (-)	NCBI

Sequence:

show sequence

CCCGGAAGCGGCGGAGTAGAGCGGAGCCTGGCGGGCGTGGGAACCCAGGCCCCGCCGAGGCGGC
CAGGAGGTGAGATGGCAGCTGGGCAAAATGGGCACGAAGAGTGGGTGGGCAGCGCATACCTGTT
TGTGGAGTCCTCGCTGGACAAGGTGGTCCTGTCGGATGCCTACGCGCACCCCCAGCAGAAGGTG
GCAGTGTACAGGGCTCTGCAGGCTGCCTTGGCAGCACTCCTTGCTCAAGACCCCTCCCCAGTAC
CTACCCTTCCAGGCCCCCCTTTCCCATCTCAGGGCAGAGGCCACAGGAGGCTGAAGCGGGTTGG
GGGATCTGTTCGTGGCCTCAGAGCGGCGAGAGCCCCTCTTCTTCCCGAGCAGTGGGAGTCGCGC
TTGGTGGAGGCCGAAGACCTGAGACCTCTCGCCCTCCTCTGCCCTGCTGGCCGCCTACCCAGAC
GGCTTGTTTGCCCAGGGCACACGCCCCCTTTTCTGTGCTTCGAAGTCCCTCTCTTTTGCCAACC
CTCATTTGGGGCGTGAGAGCGGGGGTTAGGTGGCACCCACTCTGTCTTAGGGTGCTCCCTGTGA
CAGATCCTGGTCTTCTTTCTGGGTTATTGCTGTTTGTATCCCAATTTTGCTTCCCAGCTGGGTA
CTCTGGGGTAACTGCACCCTAGGTCAGGGGATGGGACGCGGGGCTTCACCACGGGCTTCGCCCC
TCCTCCGGCCGTTTGGAGAACGGCCGAGCTTGGGGACCGCCCGGCGCCTGACCGCCCGCCTCCG
CAGAGAGCGGCGGGAGCCCGGACGTGCTGCAGATGCTGAAGATCCACCGCAGCGACCCGCAGCT
GATCGTGCAGCTGCGATTCTGCGGGCGGCAGCCCTGTGGCCGCTTCCTCCGCGCCTACCGCGAG
GGGGCGCTGCGCGCCGCGCTGCAGAGGAGCCTGGCGGCCGCGCTCGCCCAGCACTCGGTGCCGC
TGCAACTGGAGCTGCGCGCCGGCGCCGAGCGGCTGGACGCTTTGCTGGCGGACGAGGAGCGCTG
TTTGAGTTGCATCCTAGCCCAGCAGCCCGACCGGCTCCGGGATGAAGAACTGGCTGAGCTGGAG
GATGCGCTGCGAAATCTGAAGTGCGGCTCGGGGGCCCGGGGTGGCGACGGGGAGGTCGCTTCGG
CCCCCTTGCAGCCCCCGGTGCCCTCTCTGTCGGAGGTGAAGCCGCCGCCGCCGCCGCCACCTGC
CCAGACTTTTCTGTTCCAGGGTCAGCCTGTAGTGAATCGGCCGCTGAGCCTGAAGGACCAACAG
ACGTTCGCGCGCTCTGTGGGTCTCAAATGGCGCAAGGTGGGGCGCTCACTGCAGCGAGGCTGCC
GGGCGCTGCGGGACCCGGCGCTGGACTCGCTGGCCTACGAGTACGAGCGCGAGGGACTGTACGA
GCAGGCCTTCCAGCTGCTGCGGCGCTTCGTGCAGGCCGAGGGCCGCCGCGCCACGCTGCAGCGC
CTGGTGGAGGCACTCGAGGAGAACGAGCTCACCAGCCTGGCAGAGGACTTGCTGGGCCTGACCG
ATCCCAATGGCGGCCTGGCCTAGACCAGGGGTGCAGCCAGCTTTTGGAGAACCTGGATGGCCTT
AGGGTTCCTTCTGCGGCTATTGCTGAACCCCTGTCCATCCACGGGACCCTGAAACTCCACTTGG
CCTATCTGCTGGACCTGCTGGGGCAGAGTTGATTGCCTTCCCCAGGAGCCAGACCACTGGGGGT
GCATCATTGGGGATTCTGCCTCAGGTACTTTGATAGAGTGTGGGGTGGGGGGGACCTGCTTTGG
AGATCAGCCTCACCTTCTCCCATCCCAGAAGCGGGGCTTACAGCCAGCCCTTACAGTTTCACTC
ATGAAGCACCTTGATCTTTGGTGTCCTGGACTTCATCCTGGGTGCTGCAGATACTGCAGTGAAG
TAAAACAGGAATCAATCTTGCCTGCCCCCAGCTCACACTCAGCGTGGGACCCCGAATGTTAAGC
AATGATAATAAAGTATAACACGGATTTTGATGTGAGAAA

hide sequence

RefSeq Acc Id:

XM_017023815 ⟹ XP_016879304

RefSeq Status:

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	67,154,185 - 67,159,811 (-)	NCBI

Sequence:

show sequence

CTCCCCGGTGCGGGCGGGAGAGGAGGTGGATCTTGGCTCCGAAGCGTGGGCGCGGCGCAGATGT
CACCGGCGGCTGCTCCAGCCAGCTGGTGGCGGCGGTCTACTGAGCTGTTCGAACACCGTGGGAG
GCGGGGGACGGAGGTGAGATGGCAGCTGGGCAAAATGGGCACGAAGAGTGGGTGGGCAGCGCAT
ACCTGTTTGTGGAGTCCTCGCTGGACAAGGTGGTCCTGTCGGATGCCTACGCGCACCCCCAGCA
GAAGGTGGCAGTGTACAGGGCTCTGCAGGCTGCCTTGGCAGAGAGCGGCGGGAGCCCGGACGTG
CTGCAGATGCTGAAGATCCACCGCAGCGACCCGCAGCTGATCGTGCAGCTGCGATTCTGCGGGC
GGCAGCCCTGTGGCCGCTTCCTCCGCGCCTACCGCGAGGGGGCGCTGCGCGCCGCGCTGCAGAG
GAGCCTGGCGGCCGCGCTCGCCCAGCACTCGGTGCCGCTGCAACTGGAGCTGCGCGCCGGCGCC
GAGCGGCTGGACGCTTTGCTGGCGGACGAGGAGCGCTGTTTGAGTTGCATCCTAGCCCAGCAGC
CCGACCGGCTCCGGGATGAAGAACTGGCTGAGCTGGAGGATGCGCTGCGAAATCTGAAGTGCGG
CTCGGGGGCCCGGGGTGGCGACGGGGAGGTCGCTTCGGCCCCCTTGCAGCCCCCGGTGCCCTCT
CTGTCGGAGGTGAAGCCGCCGCCGCCGCCGCCACCTGCCCAGACTTTTCTGTTCCAGGGTCAGC
CTGTAGTGAATCGGCCGCTGAGCCTGAAGGACCAACAGACGTTCGCGCGCTCTGTGGGTCTCAA
ATGGCGCAAGGTGGGGCGCTCACTGCAGCGAGGCTGCCGGGCGCTGCGGGACCCGGCGCTGGAC
TCGCTGGCCTACGAGTACGAGCGCGAGGGACTGTACGAGCAGGCCTTCCAGCTGCTGCGGCGCT
TCGTGCAGGCCGAGGGCCGCCGCGCCACGCTGCAGCGCCTGGTGGAGGCACTCGAGGAGAACGA
GCTCACCAGCCTGGCAGAGGACTTGCTGGGCCTGACCGATCCCAATGGCGGCCTGGCCTAGACC
AGGGGTGCAGCCAGCTTTTGGAGAACCTGGATGGCCTTAGGGTTCCTTCTGCGGCTATTGCTGA
ACCCCTGTCCATCCACGGGACCCTGAAACTCCACTTGGCCTATCTGCTGGACCTGCTGGGGCAG
AGTTGATTGCCTTCCCCAGGAGCCAGACCACTGGGGGTGCATCATTGGGGATTCTGCCTCAGGT
ACTTTGATAGAGTGTGGGGTGGGGGGGACCTGCTTTGGAGATCAGCCTCACCTTCTCCCATCCC
AGAAGCGGGGCTTACAGCCAGCCCTTACAGTTTCACTCATGAAGCACCTTGATCTTTGGTGTCC
TGGACTTCATCCTGGGTGCTGCAGATACTGCAGTGAAGTAAAACAGGAATCAATCTTGCCTGCC
CCCAGCTCACACTCAGCGTGGGACCCCGAATGTTAAGCAATGATAATAAAGTATAACACGGATT
TTGATGTGAGAAA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001310481	(Get FASTA)	NCBI Sequence Viewer
	NP_003780	(Get FASTA)	NCBI Sequence Viewer
	XP_005256270	(Get FASTA)	NCBI Sequence Viewer
	XP_016879304	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAA98482	(Get FASTA)	NCBI Sequence Viewer
	AAH04491	(Get FASTA)	NCBI Sequence Viewer
	AAP35580	(Get FASTA)	NCBI Sequence Viewer
	AAS68637	(Get FASTA)	NCBI Sequence Viewer
	AAX89407	(Get FASTA)	NCBI Sequence Viewer
	BAG38020	(Get FASTA)	NCBI Sequence Viewer
	BAG52211	(Get FASTA)	NCBI Sequence Viewer
	BAG63082	(Get FASTA)	NCBI Sequence Viewer
	CAC38018	(Get FASTA)	NCBI Sequence Viewer
	CBW52910	(Get FASTA)	NCBI Sequence Viewer
	EAW83081	(Get FASTA)	NCBI Sequence Viewer
	Q15628	(Get FASTA)	NCBI Sequence Viewer

Reference Sequences

RefSeq Acc Id:

NP_003780 ⟸ NM_003789

- UniProtKB:

Q15628 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAGQNGHEEWVGSAYLFVESSLDKVVLSDAYAHPQQKVAVYRALQAALAESGGSPDVLQMLKI
HRSDPQLIVQLRFCGRQPCGRFLRAYREGALRAALQRSLAAALAQHSVPLQLELRAGAERLDAL
LADEERCLSCILAQQPDRLRDEELAELEDALRNLKCGSGARGGDGEVASAPLQPPVPSLSEVKP
PPPPPPAQTFLFQGQPVVNRPLSLKDQQTFARSVGLKWRKVGRSLQRGCRALRDPALDSLAYEY
EREGLYEQAFQLLRRFVQAEGRRATLQRLVEALEENELTSLAEDLLGLTDPNGGLA

hide sequence

RefSeq Acc Id:	XP_005256270 ⟸ XM_005256213
- Peptide Label:	isoform X2
- UniProtKB:	Q15628 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MLKIHRSDPQLIVQLRFCGRQPCGRFLRAYREGALRAALQRSLAAALAQHSVPLQLELRAGAER LDALLADEERCLSCILAQQPDRLRDEELAELEDALRNLKCGSGARGGDGEVASAPLQPPVPSLS EVKPPPPPPPAQTFLFQGQPVVNRPLSLKDQQTFARSVGLKWRKVGRSLQRGCRALRDPALDSL AYEYEREGLYEQAFQLLRRFVQAEGRRATLQRLVEALEENELTSLAEDLLGLTDPNGGLA hide sequence

RefSeq Acc Id:

NP_001310481 ⟸ NM_001323552

- UniProtKB:

Q15628 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MAAGQNGHEEWVGSAYLFVESSLDKVVLSDAYAHPQQKVAVYRALQAALAESGGSPDVLQMLKI
HRSDPQLIVQLRFCGRQPCGRFLRAYREGALRAALQRSLAAALAQHSVPLQLELRAGAERLDAL
LADEERCLSCILAQQPDRLRDEELAELEDALRNLKCGSGARGGDGEVASAPLQPPVPSLSEVKP
PPPPPPAQTFLFQGQPVVNRPLSLKDQQTFARSVGLKWRKVGRSLQRGCRALRDPALDSLAYEY
EREGLYEQAFQLLRRFVQAEGRRATLQRLVEALEENELTSLAEDLLGLTDPNGGLA

hide sequence

RefSeq Acc Id:	XP_016879304 ⟸ XM_017023815
- Peptide Label:	isoform X1
- UniProtKB:	Q15628 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MAAGQNGHEEWVGSAYLFVESSLDKVVLSDAYAHPQQKVAVYRALQAALAESGGSPDVLQMLKI HRSDPQLIVQLRFCGRQPCGRFLRAYREGALRAALQRSLAAALAQHSVPLQLELRAGAERLDAL LADEERCLSCILAQQPDRLRDEELAELEDALRNLKCGSGARGGDGEVASAPLQPPVPSLSEVKP PPPPPPAQTFLFQGQPVVNRPLSLKDQQTFARSVGLKWRKVGRSLQRGCRALRDPALDSLAYEY EREGLYEQAFQLLRRFVQAEGRRATLQRLVEALEENELTSLAEDLLGLTDPNGGLA hide sequence

RefSeq Acc Id:

ENSP00000341268 ⟸ ENST00000345057

RefSeq Acc Id:

ENSP00000462591 ⟸ ENST00000486556

Protein Domains

Death

Promoters

RGD ID:

6793524

Promoter ID:

HG_KWN:24010

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, Lymphoblastoid, NB4

Transcripts:

UC002ERH.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	65,746,826 - 65,747,967 (-)	MPROMDB

RGD ID:

6793124

Promoter ID:

HG_KWN:24011

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

CD4+TCell, CD4+TCell_12Hour, CD4+TCell_2Hour, HeLa_S3, K562, Lymphoblastoid, NB4

Transcripts:

OTTHUMT00000268834, OTTHUMT00000268841, UC002ERJ.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	65,750,556 - 65,751,432 (+)	MPROMDB

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	copy number gain	See cases [RCV000052405]	Chr16:56883592..71279975 [GRCh38] Chr16:56917504..71313878 [GRCh37] Chr16:55475005..69871379 [NCBI36] Chr16:16q13-22.2	pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	copy number gain	See cases [RCV000052408]	Chr16:58456122..74708723 [GRCh38] Chr16:58490026..74742621 [GRCh37] Chr16:57047527..73300122 [NCBI36] Chr16:16q21-23.1	pathogenic
GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	copy number gain	See cases [RCV000052421]	Chr16:65313395..90081985 [GRCh38] Chr16:65347298..90148393 [GRCh37] Chr16:63904799..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1	copy number loss	See cases [RCV000053333]	Chr16:62179331..67770414 [GRCh38] Chr16:62213235..67804317 [GRCh37] Chr16:60770736..66361818 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]\|See cases [RCV000053334]	Chr16:63318997..70555249 [GRCh38] Chr16:63352901..70589152 [GRCh37] Chr16:61910402..69146653 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	copy number loss	See cases [RCV000053335]	Chr16:64311275..68062011 [GRCh38] Chr16:64345179..68095914 [GRCh37] Chr16:62902680..66653415 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q22.1(chr16:66694180-67865445)x1	copy number loss	See cases [RCV000053336]	Chr16:66694180..67865445 [GRCh38] Chr16:66728083..67899348 [GRCh37] Chr16:65285584..66456849 [NCBI36] Chr16:16q22.1	pathogenic
NM_033309.2(B3GNT9):c.672C>T (p.Phe224=)	single nucleotide variant	Malignant melanoma [RCV000071180]	Chr16:67149814 [GRCh38] Chr16:67183717 [GRCh37] Chr16:65741218 [NCBI36] Chr16:16q22.1	not provided
GRCh38/hg38 16q21-22.1(chr16:66245888-67473023)x1	copy number loss	See cases [RCV000134709]	Chr16:66245888..67473023 [GRCh38] Chr16:66279791..67506926 [GRCh37] Chr16:64837292..66064427 [NCBI36] Chr16:16q21-22.1	pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	copy number gain	See cases [RCV000135863]	Chr16:62925929..84585795 [GRCh38] Chr16:62959833..84619401 [GRCh37] Chr16:61517334..83176902 [NCBI36] Chr16:16q21-24.1	pathogenic
GRCh38/hg38 16q22.1(chr16:66893204-67357178)x3	copy number gain	See cases [RCV000137368]	Chr16:66893204..67357178 [GRCh38] Chr16:66927107..67391081 [GRCh37] Chr16:65484608..65948582 [NCBI36] Chr16:16q22.1	likely pathogenic\|uncertain significance
GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	copy number gain	See cases [RCV000139426]	Chr16:65511483..90096995 [GRCh38] Chr16:65545386..90163403 [GRCh37] Chr16:64102887..88690904 [NCBI36] Chr16:16q21-24.3	pathogenic
GRCh38/hg38 16q22.1(chr16:66921669-67312444)x3	copy number gain	See cases [RCV000142764]	Chr16:66921669..67312444 [GRCh38] Chr16:66955572..67346347 [GRCh37] Chr16:65513073..65903848 [NCBI36] Chr16:16q22.1	uncertain significance
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	copy number gain	See cases [RCV000142578]	Chr16:64389378..90081985 [GRCh38] Chr16:64423281..90148393 [GRCh37] Chr16:62980782..88675894 [NCBI36] Chr16:16q21-24.3	pathogenic\|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	copy number gain	See cases [RCV000143425]	Chr16:52899183..90088654 [GRCh38] Chr16:52933095..90155062 [GRCh37] Chr16:51490596..88682563 [NCBI36] Chr16:16q12.2-24.3	pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	copy number gain	See cases [RCV000143752]	Chr16:49685521..68401712 [GRCh38] Chr16:49719432..68435615 [GRCh37] Chr16:48276933..66993116 [NCBI36] Chr16:16q12.1-22.1	pathogenic
GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	copy number gain	See cases [RCV000143742]	Chr16:65957829..83611443 [GRCh38] Chr16:65991732..83645048 [GRCh37] Chr16:64549233..82202549 [NCBI36] Chr16:16q21-23.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	copy number loss	Ductal breast carcinoma [RCV000207138]	Chr16:46615804..90142285 [GRCh37] Chr16:16q11.2-24.3	uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	copy number loss	Ductal breast carcinoma [RCV000207067]	Chr16:55359026..70884455 [GRCh37] Chr16:16q12.2-22.2	likely pathogenic\|uncertain significance
Single allele	complex	Ductal breast carcinoma [RCV000207314]	Chr16:56368689..90141355 [GRCh37] Chr16:16q12.2-24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3	copy number gain	See cases [RCV000446110]	Chr16:46464488..90155062 [GRCh37] Chr16:16q11.2-24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q21-22.1(chr16:66537021-67369281)x3	copy number gain	See cases [RCV000510388]	Chr16:66537021..67369281 [GRCh37] Chr16:16q21-22.1	uncertain significance
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	copy number gain	See cases [RCV000511622]	Chr16:9273328..89548493 [GRCh37] Chr16:16p13.2-q24.3	uncertain significance
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	copy number loss	PARP Inhibitor response [RCV000626429]	Chr16:46497599..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	copy number loss	PARP Inhibitor response [RCV000626435]	Chr16:46455960..90354753 [GRCh37] Chr16:16q11.2-24.3	drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	copy number gain	See cases [RCV000512511]	Chr16:57051473..89797669 [GRCh37] Chr16:16q13-24.3	pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	copy number gain	not provided [RCV000683820]	Chr16:54416050..72453266 [GRCh37] Chr16:16q12.2-22.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16q22.1(chr16:67180171-67234134)x1	copy number loss	not provided [RCV000739191]	Chr16:67180171..67234134 [GRCh37] Chr16:16q22.1	benign
GRCh37/hg19 16q22.1(chr16:67181999-67233266)x3	copy number gain	not provided [RCV000739192]	Chr16:67181999..67233266 [GRCh37] Chr16:16q22.1	benign
GRCh37/hg19 16q22.1(chr16:67132790-68166320)	copy number loss	not provided [RCV000767617]	Chr16:67132790..68166320 [GRCh37] Chr16:16q22.1	pathogenic
GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	copy number loss	not provided [RCV001006797]	Chr16:65669673..70180183 [GRCh37] Chr16:16q21-22.1	pathogenic
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	copy number gain	not provided [RCV001249359]	Chr16:61524229..90155062 [GRCh37] Chr16:16q21-24.3	not provided

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:12030	AgrOrtholog
COSMIC	TRADD	COSMIC
Ensembl Genes	ENSG00000102871	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein	ENSP00000341268	ENTREZGENE, UniProtKB/Swiss-Prot
	ENSP00000462591	ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000345057	ENTREZGENE, UniProtKB/Swiss-Prot
	ENST00000486556	ENTREZGENE, UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.70.680	UniProtKB/Swiss-Prot
GTEx	ENSG00000102871	GTEx
HGNC ID	HGNC:12030	ENTREZGENE
Human Proteome Map	TRADD	Human Proteome Map
InterPro	DEATH-like_dom_sf	UniProtKB/Swiss-Prot
	Death_domain	UniProtKB/Swiss-Prot
	TRADD	UniProtKB/Swiss-Prot
	TRADD_N	UniProtKB/Swiss-Prot
	TRADD_N_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:8717	UniProtKB/Swiss-Prot
NCBI Gene	8717	ENTREZGENE
OMIM	603500	OMIM
PANTHER	PTHR14913	UniProtKB/Swiss-Prot
Pfam	Death	UniProtKB/Swiss-Prot
	TRADD_N	UniProtKB/Swiss-Prot
PharmGKB	PA36707	PharmGKB
PROSITE	DEATH_DOMAIN	UniProtKB/Swiss-Prot
SMART	DEATH	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF47986	UniProtKB/Swiss-Prot
	SSF55044	UniProtKB/Swiss-Prot
UniProt	Q15628	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	B2RDS3	UniProtKB/Swiss-Prot
	B3KQZ9	UniProtKB/Swiss-Prot
	Q52NZ1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2016-04-26	TRADD	TNFRSF1A associated via death domain	TRADD	TNFRSF1A-associated via death domain	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

RGD Manual Annotations

Imported Annotations - KEGG (archival)

Imported Annotations - PID (archival)