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Gene: PANX1 (pannexin 1) Homo sapiens

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Symbol:

PANX1

Name:

pannexin 1

RGD ID:

1347653

HGNC Page

HGNC:8599

Description:

Enables several functions, including ATP transmembrane transporter activity; channel activity; and identical protein binding activity. Involved in ATP transport; calcium ion transport; and positive regulation of interleukin-1 beta production. Located in several cellular components, including bleb; endoplasmic reticulum; and gap junction. Implicated in depressive disorder.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

innexin; MGC21309; MRS1; OOMD7; OZEMA7; pannexin-1; PX1; UNQ2529

RGD Orthologs

Alliance Orthologs

More Info

more info ...

More Info

Species	Gene symbol and name	Data Source	Assertion derived from	less info ...
Orthologs ¹				less info ...
Mus musculus (house mouse):	Panx1 (pannexin 1)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Panx1 (Pannexin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, PhylomeDB, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Panx1 (pannexin 1)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	PANX1 (pannexin 1)	NCBI	Ortholog
Canis lupus familiaris (dog):	PANX1 (pannexin 1)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Panx1 (pannexin 1)	NCBI	Ortholog
Sus scrofa (pig):	PANX1 (pannexin 1)	HGNC	Ensembl, Inparanoid, NCBI, OrthoDB
Chlorocebus sabaeus (green monkey):	PANX1 (pannexin 1)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Panx1 (pannexin 1)	NCBI	Ortholog
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Panx1 (Pannexin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Panx1 (pannexin 1)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	panx1a (pannexin 1a)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Danio rerio (zebrafish):	panx1b (pannexin 1b)	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|ZFIN)
Xenopus tropicalis (tropical clawed frog):	panx1	Alliance	DIOPT (Ensembl Compara\|OMA\|OrthoFinder\|PANTHER\|PhylomeDB)
Xenopus laevis (African clawed frog):	panx1.L	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	panx1.S	Alliance	DIOPT (Xenbase)

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	11	94,128,841 - 94,181,968 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,128,841 - 94,181,968 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,862,007 - 93,915,134 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,501,742 - 93,554,786 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	93,501,741 - 93,554,783	NCBI
Celera	11	91,149,894 - 91,202,958 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,937,250 - 89,990,295 (+)	NCBI		HuRef
CHM1_1	11	93,745,100 - 93,798,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	94,045,617 - 94,098,852 (+)	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)
PANX1	Human	autosomal recessive polycystic kidney disease		ISO	RGD:735204	14995937		RGD
PANX1	Human	depressive disorder		IAGP		401854249	DNA:SNP:CDS:multiple (human)	RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP	RGD:14975691\|RGD:14975693\|RGD:14975694\|RGD:14977681	8554872	ClinVar Annotator: match by term: Oocyte maturation defect 7	ClinVar	PMID:30918116
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP	RGD:401860979	8554872	ClinVar Annotator: match by term: Oocyte maturation defect 7	ClinVar
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP	RGD:150435247\|RGD:150510723\|RGD:596928800	8554872	ClinVar Annotator: match by term: Oocyte maturation defect 7 \| ClinVar Annotator: match by term: more ...	ClinVar	PMID:25741868
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP	RGD:15150923	8554872	ClinVar Annotator: match by term: PANX1-related condition	ClinVar	PMID:28492532
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP	RGD:15191410\|RGD:15199267	8554872	ClinVar Annotator: match by term: PANX1-related condition	ClinVar	PMID:25741868\|PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	Acute Liver Failure		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29246445
PANX1	Human	Chemical and Drug Induced Liver Injury		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29246445
PANX1	Human	Massive Hepatic Necrosis		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:29246445

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	Oocyte/Zygote/Embryo Maturation Arrest 7		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	1,2-dimethylhydrazine	multiple interactions	ISO	RGD:1552235	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of PANX1 mRNA	CTD	PMID:22206623
PANX1	Human	17alpha-ethynylestradiol	increases expression	ISO	RGD:735204	6480464	Ethinyl Estradiol results in increased expression of PANX1 mRNA	CTD	PMID:29097150
PANX1	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	RGD:735204	6480464	Tetrachlorodibenzodioxin results in increased expression of PANX1 mRNA	CTD	PMID:33387578
PANX1	Human	3'-O-(4-Benzoyl)benzoyl ATP	decreases activity	ISO	RGD:1552235	6480464	3'-O-(4-benzoyl)benzoyladenosine 5'-triphosphate results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	RGD:1552235	6480464	4,4'-diaminodiphenylmethane results in increased expression of PANX1 mRNA	CTD	PMID:18648102
PANX1	Human	4,4'-diisothiocyano-trans-stilbene-2,2'-disulfonic acid	decreases activity	ISO	RGD:1552235	6480464	4,4'-Diisothiocyanostilbene-2,2'-Disulfonic Acid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	4-Acetamido-4'-isothiocyanostilbene-2,2'-disulphonic acid	decreases activity	ISO	RGD:1552235	6480464	4-Acetamido-4'-isothiocyanatostilbene-2,2'-disulfonic Acid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	4-hydroxyphenyl retinamide	increases expression	ISO	RGD:1552235	6480464	Fenretinide results in increased expression of PANX1 mRNA	CTD	PMID:28973697
PANX1	Human	5-Nitro-2-(3-phenylpropylamino)benzoic acid	decreases activity	ISO	RGD:1552235	6480464	5-nitro-2-(3-phenylpropylamino)benzoic acid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	aflatoxin B1	affects expression	EXP		6480464	Aflatoxin B1 affects the expression of PANX1 protein	CTD	PMID:20106945
PANX1	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of PANX1 mRNA	CTD	PMID:27153756
PANX1	Human	aflatoxin B1	decreases methylation	EXP		6480464	Aflatoxin B1 results in decreased methylation of PANX1 gene	CTD	PMID:27153756
PANX1	Human	arsane	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	arsenic atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	ATP	decreases activity	EXP		6480464	Adenosine Triphosphate results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	ATP	decreases activity	ISO	RGD:1552235	6480464	Adenosine Triphosphate results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	ATP	multiple interactions	EXP		6480464	Carbenoxolone inhibits the reaction [PANX1 protein results in increased export of Adenosine Triphosphate]; Probenecid inhibits more ...	CTD	PMID:19213873
PANX1	Human	ATP	increases export	EXP		6480464	PANX1 protein results in increased export of Adenosine Triphosphate	CTD	PMID:19213873
PANX1	Human	atrazine	affects methylation	ISO	RGD:735204	6480464	Atrazine affects the methylation of PANX1 gene	CTD	PMID:28931070
PANX1	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of PANX1 mRNA	CTD	PMID:26238291\|PMID:32234424
PANX1	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of PANX1 mRNA	CTD	PMID:19150397\|PMID:20382639
PANX1	Human	bisphenol A	decreases expression	ISO	RGD:735204	6480464	bisphenol A results in decreased expression of PANX1 mRNA	CTD	PMID:25181051
PANX1	Human	bisphenol A	decreases methylation	EXP		6480464	bisphenol A results in decreased methylation of PANX1 gene	CTD	PMID:31601247
PANX1	Human	bisphenol A	increases expression	ISO	RGD:735204	6480464	bisphenol A results in increased expression of PANX1 mRNA	CTD	PMID:29097150
PANX1	Human	cadmium atom	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of PANX1 more ...	CTD	PMID:35301059
PANX1	Human	cadmium dichloride	multiple interactions	EXP		6480464	[Cadmium Chloride results in increased abundance of Cadmium] which results in increased expression of PANX1 more ...	CTD	PMID:35301059
PANX1	Human	carbamazepine	affects expression	EXP		6480464	Carbamazepine affects the expression of PANX1 mRNA	CTD	PMID:25979313
PANX1	Human	CARBENOXOLONE	decreases activity	ISO	RGD:1552235	6480464	Carbenoxolone results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	CARBENOXOLONE	multiple interactions	EXP		6480464	Carbenoxolone inhibits the reaction [PANX1 protein results in increased export of Adenosine Triphosphate]	CTD	PMID:19213873
PANX1	Human	carbon nanotube	increases expression	ISO	RGD:1552235	6480464	Nanotubes, Carbon results in increased expression of PANX1 mRNA; Nanotubes, Carbon results in increased expression more ...	CTD	PMID:25554681\|PMID:32413421
PANX1	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to PANX1 gene]	CTD	PMID:28238834
PANX1	Human	chlorpyrifos	decreases expression	ISO	RGD:1552235	6480464	Chlorpyrifos results in decreased expression of PANX1 mRNA	CTD	PMID:37019170
PANX1	Human	choline	multiple interactions	ISO	RGD:1552235	6480464	[Dietary Fats co-treated with Choline deficiency] results in increased expression of PANX1 mRNA; [Methionine deficiency more ...	CTD	PMID:20938992\|PMID:29246445
PANX1	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of PANX1 mRNA	CTD	PMID:27392435
PANX1	Human	copper(II) chloride	increases expression	EXP		6480464	cupric chloride results in increased expression of PANX1 mRNA	CTD	PMID:38568856
PANX1	Human	copper(II) sulfate	increases expression	EXP		6480464	Copper Sulfate results in increased expression of PANX1 mRNA	CTD	PMID:19549813
PANX1	Human	crocidolite asbestos	affects expression	EXP		6480464	Asbestos, Crocidolite affects the expression of PANX1 mRNA	CTD	PMID:24160326
PANX1	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of PANX1 mRNA	CTD	PMID:20106945
PANX1	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of PANX1 mRNA	CTD	PMID:29803840
PANX1	Human	ethanol	multiple interactions	ISO	RGD:1552235	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PANX1 mRNA	CTD	PMID:30517762
PANX1	Human	ethyl methanesulfonate	increases expression	EXP		6480464	Ethyl Methanesulfonate results in increased expression of PANX1 mRNA	CTD	PMID:23649840
PANX1	Human	flufenamic acid	decreases activity	ISO	RGD:1552235	6480464	Flufenamic Acid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	folic acid	multiple interactions	ISO	RGD:1552235	6480464	[1,2-Dimethylhydrazine co-treated with Folic Acid] results in increased expression of PANX1 mRNA; [Methionine deficiency co-treated more ...	CTD	PMID:20938992\|PMID:22206623
PANX1	Human	folpet	decreases expression	ISO	RGD:1552235	6480464	folpet results in decreased expression of PANX1 mRNA	CTD	PMID:31558096
PANX1	Human	formaldehyde	increases expression	EXP		6480464	Formaldehyde results in increased expression of PANX1 mRNA	CTD	PMID:23649840
PANX1	Human	glutathione	decreases oxidation	ISO	RGD:1552235	6480464	PANX1 gene mutant form results in decreased oxidation of Glutathione	CTD	PMID:29246445
PANX1	Human	GTP	decreases activity	ISO	RGD:1552235	6480464	Guanosine Triphosphate results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of PANX1 mRNA	CTD	PMID:20044591
PANX1	Human	L-methionine	multiple interactions	ISO	RGD:1552235	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased expression more ...	CTD	PMID:20938992
PANX1	Human	leflunomide	decreases expression	EXP		6480464	leflunomide results in decreased expression of PANX1 mRNA	CTD	PMID:28988120
PANX1	Human	lipopolysaccharide	increases expression	ISO	RGD:1552235	6480464	Lipopolysaccharides results in increased expression of PANX1 mRNA	CTD	PMID:22147977
PANX1	Human	manganese atom	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	manganese(0)	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	menadione	increases expression	ISO	RGD:1552235	6480464	Vitamin K 3 results in increased expression of PANX1 mRNA	CTD	PMID:25270620
PANX1	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of PANX1 mRNA	CTD	PMID:23649840
PANX1	Human	N-nitrosodiethylamine	increases expression	ISO	RGD:1552235	6480464	Diethylnitrosamine results in increased expression of PANX1 mRNA	CTD	PMID:24535843
PANX1	Human	nickel atom	increases expression	EXP		6480464	Nickel results in increased expression of PANX1 mRNA	CTD	PMID:24768652\|PMID:25583101
PANX1	Human	Niflumic acid	decreases activity	ISO	RGD:1552235	6480464	Niflumic Acid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	nitrates	multiple interactions	ISO	RGD:1552235	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of PANX1 more ...	CTD	PMID:35964746
PANX1	Human	okadaic acid	increases expression	EXP		6480464	Okadaic Acid results in increased expression of PANX1 mRNA	CTD	PMID:38832940
PANX1	Human	oxaliplatin	multiple interactions	ISO	RGD:735204	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of PANX1 mRNA	CTD	PMID:25729387
PANX1	Human	paracetamol	affects expression	ISO	RGD:1552235	6480464	Acetaminophen affects the expression of PANX1 mRNA	CTD	PMID:17562736
PANX1	Human	paracetamol	increases expression	ISO	RGD:735204	6480464	Acetaminophen results in increased expression of PANX1 mRNA	CTD	PMID:33387578
PANX1	Human	paracetamol	affects localization	ISO	RGD:1552235	6480464	Acetaminophen affects the localization of PANX1 protein	CTD	PMID:27826632
PANX1	Human	paracetamol	increases expression	ISO	RGD:1552235	6480464	Acetaminophen results in increased expression of PANX1 mRNA	CTD	PMID:27826632\|PMID:29246445
PANX1	Human	paracetamol	multiple interactions	ISO	RGD:1552235	6480464	PANX1 gene mutant form inhibits the reaction [Acetaminophen results in decreased expression of AADAT mRNA]; more ...	CTD	PMID:27826632\|PMID:29246445
PANX1	Human	paracetamol	affects response to substance	ISO	RGD:1552235	6480464	PANX1 gene mutant form affects the susceptibility to Acetaminophen	CTD	PMID:29246445
PANX1	Human	paracetamol	decreases expression	EXP		6480464	Acetaminophen results in decreased expression of PANX1 mRNA	CTD	PMID:21420995
PANX1	Human	perfluorooctanoic acid	increases expression	ISO	RGD:735204	6480464	perfluorooctanoic acid results in increased expression of PANX1 mRNA	CTD	PMID:35163327
PANX1	Human	phenobarbital	affects expression	EXP		6480464	Phenobarbital affects the expression of PANX1 mRNA	CTD	PMID:19159669
PANX1	Human	probenecid	multiple interactions	EXP		6480464	Probenecid inhibits the reaction [PANX1 protein results in increased export of Adenosine Triphosphate]	CTD	PMID:19213873
PANX1	Human	probenecid	decreases activity	ISO	RGD:1552235	6480464	Probenecid results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of PANX1 mRNA	CTD	PMID:23557933
PANX1	Human	serpentine asbestos	affects expression	EXP		6480464	Asbestos, Serpentine affects the expression of PANX1 mRNA	CTD	PMID:24160326
PANX1	Human	sodium arsenite	affects methylation	EXP		6480464	sodium arsenite affects the methylation of PANX1 gene	CTD	PMID:28589171
PANX1	Human	sodium arsenite	decreases expression	ISO	RGD:1552235	6480464	sodium arsenite results in decreased expression of PANX1 mRNA	CTD	PMID:37682722
PANX1	Human	sodium arsenite	multiple interactions	EXP		6480464	[[sodium arsenite results in increased abundance of Arsenic] co-treated with [manganese chloride results in increased more ...	CTD	PMID:39836092
PANX1	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of PANX1 mRNA	CTD	PMID:38568856
PANX1	Human	tacrolimus hydrate	increases expression	ISO	RGD:1552235	6480464	Tacrolimus results in increased expression of PANX1 mRNA	CTD	PMID:29362864
PANX1	Human	testosterone	increases expression	ISO	RGD:1552235	6480464	Testosterone results in increased expression of PANX1 mRNA	CTD	PMID:20403060
PANX1	Human	tetrachloromethane	increases expression	ISO	RGD:1552235	6480464	Carbon Tetrachloride results in increased expression of PANX1 mRNA	CTD	PMID:29987408
PANX1	Human	tetrachloromethane	multiple interactions	ISO	RGD:1552235	6480464	[Carbon Tetrachloride co-treated with Ethanol] results in increased expression of PANX1 mRNA; [PANX1 protein co-treated more ...	CTD	PMID:29987408\|PMID:30517762
PANX1	Human	topotecan	multiple interactions	ISO	RGD:735204	6480464	[oxaliplatin co-treated with Topotecan] results in increased expression of PANX1 mRNA	CTD	PMID:25729387
PANX1	Human	trichloroethene	increases expression	ISO	RGD:735204	6480464	Trichloroethylene results in increased expression of PANX1 mRNA	CTD	PMID:33387578
PANX1	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of PANX1 mRNA	CTD	PMID:37042841
PANX1	Human	UTP	decreases activity	ISO	RGD:1552235	6480464	Uridine Triphosphate results in decreased activity of PANX1 protein	CTD	PMID:19023039
PANX1	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of PANX1 mRNA	CTD	PMID:25979313

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)
PANX1	Human	ATP transport	involved_in	IDA		150520179	PMID:15304325	UniProt	PMID:15304325
PANX1	Human	calcium ion transmembrane transport	involved_in	IEA	UniProtKB-KW:KW-0107	150520179		UniProt	GO_REF:0000043
PANX1	Human	calcium ion transport	involved_in	IMP		150520179	PMID:16908669	UniProt	PMID:16908669
PANX1	Human	calcium ion transport	involved_in	IEA	UniProtKB-KW:KW-0109	150520179		UniProt	GO_REF:0000043
PANX1	Human	cell differentiation	involved_in	IEA	UniProtKB-KW:KW-0221	150520179		UniProt	GO_REF:0000043
PANX1	Human	cell-cell signaling	involved_in	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	cell-cell signaling	involved_in	IBA	PANTHER:PTN000405776\|RGD:735137\|RGD:735191\|RGD:735204	150520179		GO_Central	GO_REF:0000033
PANX1	Human	cell-cell signaling		ISO	RGD:735204	9068941		RGD	PMID:14597722\|REF_RGD_ID:1299639
PANX1	Human	monoatomic anion transmembrane transport	involved_in	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	monoatomic anion transmembrane transport	involved_in	ISS	UniProtKB:Q9JIP4	150520179		UniProt	GO_REF:0000024
PANX1	Human	monoatomic cation transport	involved_in	IDA		150520179	PMID:17036048	BHF-UCL	PMID:17036048
PANX1	Human	monoatomic cation transport	involved_in	IBA	PANTHER:PTN000405776\|UniProtKB:Q96RD7	150520179		GO_Central	GO_REF:0000033
PANX1	Human	monoatomic cation transport	involved_in	IEA	InterPro:IPR039099	150520179		InterPro	GO_REF:0000002
PANX1	Human	monoatomic ion transmembrane transport	involved_in	IEA	UniProtKB-KW:KW-0407	150520179		UniProt	GO_REF:0000043
PANX1	Human	monoatomic ion transport	involved_in	IEA	UniProtKB-KW:KW-0406	150520179		UniProt	GO_REF:0000043
PANX1	Human	oogenesis	involved_in	IEA	UniProtKB-KW:KW-0896	150520179		UniProt	GO_REF:0000043
PANX1	Human	positive regulation of interleukin-1 alpha production	acts_upstream_of_or_within	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	positive regulation of interleukin-1 beta production	involved_in	IDA		150520179	PMID:17036048	BHF-UCL	PMID:17036048
PANX1	Human	positive regulation of interleukin-1 beta production	acts_upstream_of_or_within	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	positive regulation of interleukin-1 production	involved_in	IEA	InterPro:IPR039099	150520179		InterPro	GO_REF:0000002
PANX1	Human	positive regulation of macrophage cytokine production	acts_upstream_of_or_within	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	response to ATP	acts_upstream_of_or_within	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	response to ischemia	acts_upstream_of_or_within	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107

Cellular Component

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	bleb	located_in	IDA		150520179	PMID:17036048	BHF-UCL	PMID:17036048
PANX1	Human	endoplasmic reticulum	located_in	IEA	UniProtKB-KW:KW-0256	150520179		UniProt	GO_REF:0000043
PANX1	Human	endoplasmic reticulum	located_in	IDA		150520179	PMID:16908669	UniProt	PMID:16908669
PANX1	Human	endoplasmic reticulum membrane	located_in	IEA	UniProtKB-SubCell:SL-0097	150520179		UniProt	GO_REF:0000044
PANX1	Human	gap junction	located_in	IEA	UniRule:UR000042758	150520179		UniProt	GO_REF:0000104
PANX1	Human	gap junction	located_in	IDA		150520179	PMID:16908669, PMID:17715132	UniProt	PMID:16908669\|PMID:17715132
PANX1	Human	membrane	located_in	IEA	UniRule:UR000042758	150520179		UniProt	GO_REF:0000104
PANX1	Human	membrane	located_in	IEA	UniProtKB-KW:KW-0472	150520179		UniProt	GO_REF:0000043
PANX1	Human	membrane	located_in	HDA		150520179	PMID:19946888	UniProt	PMID:19946888
PANX1	Human	plasma membrane	located_in	IEA	UniProtKB-KW:KW-1003	150520179		UniProt	GO_REF:0000043
PANX1	Human	plasma membrane	located_in	TAS		150520179		Reactome	Reactome:R-HSA-375339\|Reactome:R-HSA-877198
PANX1	Human	plasma membrane	located_in	IEA	UniProtKB-SubCell:SL-0039	150520179		UniProt	GO_REF:0000044
PANX1	Human	plasma membrane	located_in	IDA		150520179	PMID:17036048	HPA	GO_REF:0000052\|PMID:17036048
PANX1	Human	plasma membrane	located_in	IEA	UniProtKB:P60570\|UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	plasma membrane	is_active_in	IBA	MGI:1860055\|MGI:1918881\|PANTHER:PTN000405776\|RGD:735204\|UniProtKB:Q96RD6\|UniProtKB:Q96RD7\|ZFIN:ZDB-GENE-040426-766\|ZFIN:ZDB-GENE-070705-192	150520179		GO_Central	GO_REF:0000033
PANX1	Human	protein-containing complex		ISO	RGD:735204	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	protein-containing complex	part_of	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107

Molecular Function

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	actin binding	enables	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	actin filament binding	enables	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	ATP transmembrane transporter activity	enables	IDA		150520179	PMID:15304325	UniProt	PMID:15304325
PANX1	Human	calcium channel activity	enables	IMP		150520179	PMID:16908669	UniProt	PMID:16908669
PANX1	Human	calcium channel activity	enables	IEA	UniProtKB-KW:KW-0107	150520179		UniProt	GO_REF:0000043
PANX1	Human	channel activity	enables	IEA	InterPro:IPR039099	150520179		InterPro	GO_REF:0000002
PANX1	Human	gap junction channel activity		ISO	RGD:735204	9068941		RGD	PMID:14597722\|REF_RGD_ID:1299639
PANX1	Human	gap junction channel activity	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	gap junction hemi-channel activity	NOT\|enables	ISS	UniProtKB:P60570	150520179		UniProt	GO_REF:0000024
PANX1	Human	identical protein binding	enables	IPI	UniProtKB:Q96RD7-1	150520179	PMID:32231289, PMID:32494015	IntAct	PMID:32231289\|PMID:32494015
PANX1	Human	leak channel activity	enables	IMP		150520179	PMID:16908669	UniProt	PMID:16908669
PANX1	Human	monoatomic anion channel activity	enables	IEA	UniProtKB:Q9JIP4\|ensembl:ENSMUSP00000126405	150520179		Ensembl	GO_REF:0000107
PANX1	Human	monoatomic anion channel activity	enables	ISS	UniProtKB:Q9JIP4	150520179		UniProt	GO_REF:0000024
PANX1	Human	protease binding		ISO	RGD:2274	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	protease binding	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	protease binding		ISO	RGD:621757	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	protein binding		ISO	RGD:1310963	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	protein binding	enables	IPI	UniProtKB:O95183\|UniProtKB:P01375\|UniProtKB:P02652\|UniProtKB:P37268\|UniProtKB:P41181\|UniProtKB:Q14508\|UniProtKB:Q8NBD8\|UniProtKB:Q92843\|UniProtKB:Q96IV6\|UniProtKB:Q9BQE5\|UniProtKB:Q9BXR6\|UniProtKB:Q9NVC3	150520179	PMID:32296183	IntAct	PMID:32296183
PANX1	Human	protein binding		ISO	RGD:620692	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	protein-containing complex binding		ISO	RGD:735204	9068941	heterodimerization	RGD	PMID:14597722\|REF_RGD_ID:1299639
PANX1	Human	protein-containing complex binding	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	scaffold protein binding		ISO	RGD:628637	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	scaffold protein binding	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	signaling receptor binding	enables	IPI	UniProtKB:Q64663	150520179	PMID:17036048	UniProt	PMID:17036048
PANX1	Human	structural molecule activity	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	structural molecule activity	enables	ISS	UniProtKB:P60570	150520179		UniProt	GO_REF:0000024
PANX1	Human	transmembrane transporter binding		ISO	RGD:3241	9068941		RGD	PMID:19416975\|REF_RGD_ID:5491011
PANX1	Human	transmembrane transporter binding	enables	IEA	UniProtKB:P60570\|ensembl:ENSRNOP00000013577	150520179		Ensembl	GO_REF:0000107
PANX1	Human	wide pore channel activity	enables	IBA	MGI:1918881\|PANTHER:PTN000405776\|RGD:735191\|RGD:735204\|ZFIN:ZDB-GENE-040426-766\|ZFIN:ZDB-GENE-070705-192	150520179		GO_Central	GO_REF:0000033

RGD Manual Annotations

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	neuron-to-neuron signaling pathway via the electrical synapse		ISO	RGD:735204	9068941		RGD	PMID:14597722\|REF_RGD_ID:1299639

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	Abnormal meiosis		IAGP		8699517		HPO	ORPHA:488191
PANX1	Human	Abnormal oocyte morphology		IAGP		8699517		HPO	ORPHA:488191
PANX1	Human	Abnormal spermatogenesis		IAGP		8699517		HPO	ORPHA:488191
PANX1	Human	Autosomal dominant inheritance		IAGP		8699517		HPO	MIM:618550\|PMID:30918116
PANX1	Human	Female infertility		IAGP		8699517		HPO	MIM:618550\|PMID:30918116\|ORPHA:488191
PANX1	Human	Increased oocyte death		IAGP		8699517		HPO	MIM:618550\|PMID:30918116
PANX1	Human	Oocyte arrest at metaphase I		IAGP		8699517		HPO	ORPHA:488191
PANX1	Human	Polycystic ovaries		IAGP		8699517		HPO	ORPHA:488191

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
PANX1	Human	Intellectual disability		IAGP	RGD:42723466	8554872	ClinVar Annotator: match by term: Intellectual disability	ClinVar

#	Reference Title	Reference Citation
1.	Knockout of P2rx7 purinergic receptor attenuates cyst growth in a rat model of ARPKD.	Arkhipov SN, etal., Am J Physiol Renal Physiol. 2019 Oct 21. doi: 10.1152/ajprenal.00395.2019.
2.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
3.	Mutation burden analysis of six common mental disorders in African Americans by whole genome sequencing.	Liu Y, etal., Hum Mol Genet. 2022 Nov 10;31(22):3769-3776. doi: 10.1093/hmg/ddac129.
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:12477932	PMID:12975309	PMID:14597722	PMID:15028292	PMID:15304325	PMID:15489334	PMID:16293724	PMID:16303743	PMID:16682648	PMID:16690868	PMID:16908669	PMID:17036048
PMID:17240370	PMID:17715132	PMID:17925379	PMID:18029348	PMID:18596211	PMID:19056988	PMID:19150332	PMID:19213873	PMID:19946888	PMID:20086016	PMID:20516070	PMID:20622111
PMID:20628624	PMID:20660288	PMID:20884646	PMID:20944749	PMID:21606493	PMID:21659516	PMID:21791690	PMID:21859844	PMID:21865551	PMID:21873635	PMID:22311122	PMID:22311983
PMID:22753409	PMID:22947051	PMID:22972801	PMID:23033481	PMID:23456773	PMID:23549611	PMID:23594276	PMID:23700432	PMID:23798685	PMID:23918924	PMID:23936165	PMID:24146091
PMID:24418937	PMID:24531690	PMID:24646995	PMID:24655807	PMID:24671093	PMID:25008946	PMID:25112874	PMID:25170954	PMID:25239622	PMID:25301060	PMID:25947940	PMID:26009197
PMID:26009198	PMID:26054298	PMID:26098574	PMID:26186194	PMID:26223428	PMID:26242575	PMID:26385361	PMID:26496610	PMID:26549023	PMID:26638075	PMID:26755773	PMID:26823467
PMID:27025600	PMID:27109381	PMID:27129271	PMID:27518505	PMID:27720686	PMID:27741412	PMID:27883084	PMID:28036289	PMID:28134257	PMID:28142297	PMID:28298427	PMID:28389204
PMID:28514442	PMID:28692057	PMID:28735901	PMID:28855161	PMID:29222846	PMID:29357945	PMID:29393654	PMID:29507755	PMID:29676177	PMID:29802622	PMID:29848662	PMID:29882918
PMID:29932112	PMID:30061676	PMID:30377218	PMID:30442766	PMID:30639242	PMID:30814251	PMID:30918116	PMID:31056421	PMID:31110238	PMID:31211503	PMID:31242494	PMID:31278290
PMID:31410978	PMID:31678930	PMID:31694915	PMID:31698505	PMID:31871319	PMID:32023876	PMID:32203128	PMID:32231289	PMID:32246089	PMID:32284561	PMID:32296183	PMID:32312847
PMID:32494015	PMID:32639715	PMID:32688074	PMID:32931038	PMID:33050989	PMID:33052098	PMID:33243234	PMID:33345473	PMID:33394272	PMID:33405952	PMID:33410749	PMID:33495594
PMID:33499026	PMID:33564071	PMID:33647315	PMID:33961781	PMID:34067798	PMID:34079125	PMID:34181173	PMID:34301959	PMID:34380770	PMID:34709727	PMID:34796785	PMID:35133866
PMID:35291811	PMID:35315432	PMID:35325354	PMID:35373707	PMID:35486697	PMID:35563450	PMID:35748872	PMID:35834089	PMID:36012667	PMID:36037373	PMID:36215168	PMID:36252698
PMID:36291086	PMID:36469255	PMID:36538593	PMID:36610467	PMID:36976175	PMID:37073958	PMID:37130457	PMID:37511370	PMID:37589139	PMID:37622532	PMID:38073055	PMID:38100403
PMID:38117590	PMID:38780416	PMID:38861601	PMID:38880128	PMID:38897345	PMID:38937853	PMID:39232764

PANX1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	11	94,128,841 - 94,181,968 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	11	94,128,841 - 94,181,968 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	11	93,862,007 - 93,915,134 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	11	93,501,742 - 93,554,786 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	11	93,501,741 - 93,554,783	NCBI
Celera	11	91,149,894 - 91,202,958 (+)	NCBI		Celera
Cytogenetic Map	11	q21	NCBI
HuRef	11	89,937,250 - 89,990,295 (+)	NCBI		HuRef
CHM1_1	11	93,745,100 - 93,798,158 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	11	94,045,617 - 94,098,852 (+)	NCBI		T2T-CHM13v2.0

Panx1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	9	14,917,081 - 14,956,774 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	9	14,913,424 - 14,956,774 (-)	Ensembl		GRCm39 Ensembl
GRCm38	9	15,005,785 - 15,045,478 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	9	15,002,128 - 15,045,478 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	9	14,810,229 - 14,849,922 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	9	14,756,178 - 14,795,871 (-)	NCBI		MGSCv36	mm8
Celera	9	12,286,408 - 12,326,356 (-)	NCBI		Celera
Cytogenetic Map	9	A2	NCBI
cM Map	9	4.52	NCBI

Panx1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	8	20,128,783 - 20,171,200 (-)	NCBI		GRCr8
mRatBN7.2	8	11,851,176 - 11,889,774 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	8	11,850,730 - 11,889,774 (-)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	8	15,835,505 - 15,873,902 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	8	14,133,250 - 14,171,653 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	8	12,114,170 - 12,153,042 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	8	13,567,185 - 13,606,040 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	8	13,566,739 - 13,606,040 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	8	13,508,401 - 13,547,151 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	8	11,809,752 - 11,849,392 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	8	11,809,751 - 11,849,392 (-)	NCBI
Celera	8	13,320,676 - 13,358,794 (-)	NCBI		Celera
Cytogenetic Map	8	q12	NCBI

Panx1
(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_004955414	401,188 - 448,470 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955414	405,483 - 448,470 (-)	NCBI	ChiLan1.0	ChiLan1.0

PANX1
(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	9	94,981,323 - 95,136,371 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	11	96,074,806 - 96,126,726 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	11	89,142,686 - 89,295,972 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	11	92,628,760 - 92,685,118 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	11	92,628,760 - 92,685,109 (+)	Ensembl	panpan1.1		panPan2

PANX1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	21	6,665,730 - 6,715,272 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	21	6,668,269 - 6,715,858 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	21	6,675,643 - 6,724,808 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	21	6,846,046 - 6,895,302 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	21	6,846,046 - 6,895,402 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	21	6,626,593 - 6,676,016 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	21	6,695,903 - 6,745,264 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	21	6,746,177 - 6,795,582 (-)	NCBI		UU_Cfam_GSD_1.0

Panx1
(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_024404947	79,118,039 - 79,154,514 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936674	736,905 - 773,412 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936674	736,911 - 773,406 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

PANX1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	9	26,443,815 - 26,491,002 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	9	26,443,425 - 26,491,010 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	9	30,047,789 - 30,182,476 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

PANX1
(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	1	85,356,507 - 85,413,146 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	1	85,356,610 - 85,409,275 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666043	40,394,937 - 40,454,501 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Panx1
(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_female_1.0 Ensembl	NW_004624735	38,766,981 - 38,819,092 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624735	38,766,973 - 38,823,284 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in PANX1
79 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	copy number loss	See cases [RCV000052710]	Chr11:78232836..106779420 [GRCh38] Chr11:77943882..106650146 [GRCh37] Chr11:77621530..106155356 [NCBI36] Chr11:11q14.1-22.3	pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1	copy number loss	See cases [RCV000052711]	Chr11:85242847..102920097 [GRCh38] Chr11:84953891..102738968 [GRCh37] Chr11:84631539..102296037 [NCBI36] Chr11:11q14.1-22.2	pathogenic
Single allele	deletion	Intellectual disability [RCV001293382]	Chr11:118359328..118372573 [GRCh37] Chr11:11p15.3-q23.3	pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1	copy number loss	See cases [RCV000133838]	Chr11:75941754..98357960 [GRCh38] Chr11:75652798..98228688 [GRCh37] Chr11:75330446..97733898 [NCBI36] Chr11:11q13.5-22.1	pathogenic
GRCh38/hg38 11q14.3-22.3(chr11:91086659-109595582)x1	copy number loss	See cases [RCV000138038]	Chr11:91086659..109595582 [GRCh38] Chr11:90819827..109466308 [GRCh37] Chr11:90459475..108971518 [NCBI36] Chr11:11q14.3-22.3	pathogenic
NM_015368.4(PANX1):c.650G>A (p.Arg217His)	single nucleotide variant	not provided [RCV000234929]	Chr11:94179706 [GRCh38] Chr11:93912872 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1	copy number loss	See cases [RCV000446395]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.2-22.3(chr11:88152458-109414650)x1	copy number loss	See cases [RCV000510457]	Chr11:88152458..109414650 [GRCh37] Chr11:11q14.2-22.3	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	copy number gain	See cases [RCV000511729]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	copy number gain	See cases [RCV000510881]	Chr11:230616..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	copy number gain	not provided [RCV000683374]	Chr11:71588805..116680918 [GRCh37] Chr11:11q13.4-23.3	pathogenic
NM_015368.4(PANX1):c.1040G>C (p.Cys347Ser)	single nucleotide variant	Oocyte maturation defect 7 [RCV000850136]	Chr11:94180096 [GRCh38] Chr11:93913262 [GRCh37] Chr11:11q21	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3	copy number gain	not provided [RCV000737348]	Chr11:198510..134934063 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1	copy number loss	not provided [RCV000737595]	Chr11:80053454..113316236 [GRCh37] Chr11:11q14.1-23.2	pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3	copy number gain	not provided [RCV000749874]	Chr11:70864..134938470 [GRCh37] Chr11:11p15.5-q25	pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3	copy number gain	not provided [RCV000750120]	Chr11:83179196..94716998 [GRCh37] Chr11:11q14.1-21	pathogenic
NM_015368.4(PANX1):c.15A>C (p.Gln5His)	single nucleotide variant	Oocyte maturation defect 7 [RCV001788714]\|not provided [RCV001665358]	Chr11:94129327 [GRCh38] Chr11:93862493 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.-21C>G	single nucleotide variant	not provided [RCV001645053]	Chr11:94129292 [GRCh38] Chr11:93862458 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.321+42G>C	single nucleotide variant	not provided [RCV001648841]	Chr11:94153672 [GRCh38] Chr11:93886838 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.99T>C (p.Ala33=)	single nucleotide variant	not provided [RCV000899156]	Chr11:94129411 [GRCh38] Chr11:93862577 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.*94A>G	single nucleotide variant	not provided [RCV001643438]	Chr11:94180963 [GRCh38] Chr11:93914129 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.868G>A (p.Val290Met)	single nucleotide variant	PANX1-related disorder [RCV003912997]\|not provided [RCV000910239]	Chr11:94179924 [GRCh38] Chr11:93913090 [GRCh37] Chr11:11q21	benign\|likely benign
NM_015368.4(PANX1):c.1201+9T>G	single nucleotide variant	not provided [RCV000916590]	Chr11:94180266 [GRCh38] Chr11:93913432 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.465G>C (p.Lys155Asn)	single nucleotide variant	not provided [RCV000965219]	Chr11:94178512 [GRCh38] Chr11:93911678 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.81G>T (p.Gly27=)	single nucleotide variant	not provided [RCV000963285]	Chr11:94129393 [GRCh38] Chr11:93862559 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.62_70del (p.Thr21_Pro23del)	deletion	Oocyte maturation defect 7 [RCV000850138]	Chr11:94129366..94129374 [GRCh38] Chr11:93862532..93862540 [GRCh37] Chr11:11q21	pathogenic
NM_015368.4(PANX1):c.1174C>T (p.Gln392Ter)	single nucleotide variant	Oocyte maturation defect 7 [RCV000850135]	Chr11:94180230 [GRCh38] Chr11:93913396 [GRCh37] Chr11:11q21	pathogenic
NM_015368.4(PANX1):c.1036A>G (p.Lys346Glu)	single nucleotide variant	Oocyte maturation defect 7 [RCV000850137]	Chr11:94180092 [GRCh38] Chr11:93913258 [GRCh37] Chr11:11q21	pathogenic
NM_015368.4(PANX1):c.1170G>T (p.Glu390Asp)	single nucleotide variant	not provided [RCV001713409]	Chr11:94180226 [GRCh38] Chr11:93913392 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.1202-265C>T	single nucleotide variant	not provided [RCV001651568]	Chr11:94180525 [GRCh38] Chr11:93913691 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.546-148C>T	single nucleotide variant	not provided [RCV001689003]	Chr11:94179454 [GRCh38] Chr11:93912620 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.-223CCGCC[3]	microsatellite	not provided [RCV001681661]	Chr11:94129089..94129093 [GRCh38] Chr11:93862255..93862259 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.1202-264T>C	single nucleotide variant	not provided [RCV001656262]	Chr11:94180526 [GRCh38] Chr11:93913692 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.-459C>T	single nucleotide variant	not provided [RCV001616136]	Chr11:94128854 [GRCh38] Chr11:93862020 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.546-130A>G	single nucleotide variant	not provided [RCV001674895]	Chr11:94179472 [GRCh38] Chr11:93912638 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.1133T>C (p.Val378Ala)	single nucleotide variant	PANX1-related disorder [RCV003958143]\|not provided [RCV000901256]	Chr11:94180189 [GRCh38] Chr11:93913355 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.1187C>T (p.Thr396Met)	single nucleotide variant	PANX1-related disorder [RCV003960680]\|not provided [RCV000956992]	Chr11:94180243 [GRCh38] Chr11:93913409 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.814A>G (p.Ile272Val)	single nucleotide variant	PANX1-related disorder [RCV003968427]\|not provided [RCV001660834]	Chr11:94179870 [GRCh38] Chr11:93913036 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.1201+69T>C	single nucleotide variant	not provided [RCV001620788]	Chr11:94180326 [GRCh38] Chr11:93913492 [GRCh37] Chr11:11q21	benign
GRCh37/hg19 11q21(chr11:93297444-94041273)x3	copy number gain	not provided [RCV001006434]	Chr11:93297444..94041273 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1201+35T>C	single nucleotide variant	not provided [RCV001651800]	Chr11:94180292 [GRCh38] Chr11:93913458 [GRCh37] Chr11:11q21	benign
NM_015368.4(PANX1):c.545+98C>T	single nucleotide variant	not provided [RCV001616948]	Chr11:94178690 [GRCh38] Chr11:94178690..94178691 [GRCh38] Chr11:93911856 [GRCh37] Chr11:93911856..93911857 [GRCh37] Chr11:11q21	benign
NC_000011.10:g.94128631A>G	single nucleotide variant	not provided [RCV001652065]	Chr11:94128631 [GRCh38] Chr11:93861797 [GRCh37] Chr11:11q21	benign
GRCh37/hg19 11q21(chr11:93676223-94342737)x3	copy number gain	not provided [RCV001260146]	Chr11:93676223..94342737 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445)	copy number loss	not specified [RCV002052940]	Chr11:77855209..98002445 [GRCh37] Chr11:11q14.1-22.1	pathogenic
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	copy number loss	not provided [RCV001832892]	Chr11:85422071..118022671 [GRCh37] Chr11:11q14.1-23.3	uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)	copy number loss	not specified [RCV002052941]	Chr11:80318996..96116221 [GRCh37] Chr11:11q14.1-21	pathogenic
GRCh37/hg19 11q14.3-21(chr11:90906452-94437087)	copy number gain	not specified [RCV002052947]	Chr11:90906452..94437087 [GRCh37] Chr11:11q14.3-21	uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	copy number gain	MISSED ABORTION [RCV002282973]	Chr11:32799481..134938470 [GRCh37] Chr11:11p13-q25	pathogenic
NM_015368.4(PANX1):c.22A>G (p.Thr8Ala)	single nucleotide variant	not specified [RCV004324035]	Chr11:94129334 [GRCh38] Chr11:93862500 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.262G>T (p.Val88Phe)	single nucleotide variant	not specified [RCV004237465]	Chr11:94153571 [GRCh38] Chr11:93886737 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1	copy number loss	not provided [RCV002475722]	Chr11:81478509..104667040 [GRCh37] Chr11:11q14.1-22.3	pathogenic
NM_015368.4(PANX1):c.847G>T (p.Val283Phe)	single nucleotide variant	not specified [RCV004222554]	Chr11:94179903 [GRCh38] Chr11:93913069 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.962A>G (p.Lys321Arg)	single nucleotide variant	not specified [RCV004090121]	Chr11:94180018 [GRCh38] Chr11:93913184 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1156G>A (p.Ala386Thr)	single nucleotide variant	not specified [RCV004236205]	Chr11:94180212 [GRCh38] Chr11:93913378 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.727G>A (p.Glu243Lys)	single nucleotide variant	not specified [RCV004129401]	Chr11:94179783 [GRCh38] Chr11:93912949 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.374T>C (p.Leu125Pro)	single nucleotide variant	not specified [RCV004199352]	Chr11:94178421 [GRCh38] Chr11:93911587 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1084G>A (p.Asp362Asn)	single nucleotide variant	not specified [RCV004106476]	Chr11:94180140 [GRCh38] Chr11:93913306 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.536T>C (p.Leu179Ser)	single nucleotide variant	not specified [RCV004170476]	Chr11:94178583 [GRCh38] Chr11:93911749 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.479C>T (p.Ala160Val)	single nucleotide variant	not specified [RCV004191771]	Chr11:94178526 [GRCh38] Chr11:93911692 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.383G>A (p.Arg128His)	single nucleotide variant	not specified [RCV004216491]	Chr11:94178430 [GRCh38] Chr11:93911596 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1007A>G (p.Glu336Gly)	single nucleotide variant	not specified [RCV004166672]	Chr11:94180063 [GRCh38] Chr11:93913229 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.766G>A (p.Asp256Asn)	single nucleotide variant	not specified [RCV004113428]	Chr11:94179822 [GRCh38] Chr11:93912988 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1281A>T (p.Ter427Cys)	single nucleotide variant	Oocyte maturation defect 7 [RCV004797474]	Chr11:94180869 [GRCh38] Chr11:93914035 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.652C>A (p.Leu218Met)	single nucleotide variant	not specified [RCV004274696]	Chr11:94179708 [GRCh38] Chr11:93912874 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.749C>T (p.Ser250Leu)	single nucleotide variant	Oocyte maturation defect 7 [RCV003333819]	Chr11:94179805 [GRCh38] Chr11:93912971 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.191T>C (p.Ile64Thr)	single nucleotide variant	not specified [RCV004341837]	Chr11:94153500 [GRCh38] Chr11:93886666 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.388G>A (p.Ala130Thr)	single nucleotide variant	not specified [RCV004340573]	Chr11:94178435 [GRCh38] Chr11:93911601 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.382C>T (p.Arg128Cys)	single nucleotide variant	not specified [RCV004362197]	Chr11:94178429 [GRCh38] Chr11:93911595 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.765C>T (p.Asn255=)	single nucleotide variant	PANX1-related disorder [RCV003949380]	Chr11:94179821 [GRCh38] Chr11:93912987 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.261T>C (p.Ala87=)	single nucleotide variant	PANX1-related disorder [RCV003937175]	Chr11:94153570 [GRCh38] Chr11:93886736 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.519A>G (p.Pro173=)	single nucleotide variant	PANX1-related disorder [RCV003923942]	Chr11:94178566 [GRCh38] Chr11:93911732 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.882G>A (p.Thr294=)	single nucleotide variant	PANX1-related disorder [RCV003974495]	Chr11:94179938 [GRCh38] Chr11:93913104 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.1083C>T (p.Ile361=)	single nucleotide variant	PANX1-related disorder [RCV003981813]	Chr11:94180139 [GRCh38] Chr11:93913305 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.911A>C (p.Asp304Ala)	single nucleotide variant	not specified [RCV004500271]	Chr11:94179967 [GRCh38] Chr11:93913133 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.190A>G (p.Ile64Val)	single nucleotide variant	not specified [RCV004500263]	Chr11:94153499 [GRCh38] Chr11:93886665 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.455G>A (p.Arg152His)	single nucleotide variant	not specified [RCV004500265]	Chr11:94178502 [GRCh38] Chr11:93911668 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.472A>G (p.Lys158Glu)	single nucleotide variant	not specified [RCV004500266]	Chr11:94178519 [GRCh38] Chr11:93911685 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.49C>G (p.Leu17Val)	single nucleotide variant	not specified [RCV004500267]	Chr11:94129361 [GRCh38] Chr11:93862527 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.583A>G (p.Ile195Val)	single nucleotide variant	not specified [RCV004500268]	Chr11:94179639 [GRCh38] Chr11:93912805 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.300C>A (p.Asn100Lys)	single nucleotide variant	not specified [RCV004500264]	Chr11:94153609 [GRCh38] Chr11:93886775 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.68C>G (p.Pro23Arg)	single nucleotide variant	not specified [RCV004500269]	Chr11:94129380 [GRCh38] Chr11:93862546 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1253G>A (p.Arg418Gln)	single nucleotide variant	not specified [RCV004500262]	Chr11:94180841 [GRCh38] Chr11:93914007 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.689A>G (p.Tyr230Cys)	single nucleotide variant	not specified [RCV004664133]	Chr11:94179745 [GRCh38] Chr11:93912911 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1150A>T (p.Met384Leu)	single nucleotide variant	not specified [RCV004650842]	Chr11:94180206 [GRCh38] Chr11:93913372 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.346T>G (p.Phe116Val)	single nucleotide variant	not specified [RCV004650843]	Chr11:94178393 [GRCh38] Chr11:93911559 [GRCh37] Chr11:11q21	likely benign
NM_015368.4(PANX1):c.667A>G (p.Ile223Val)	single nucleotide variant	not specified [RCV004650844]	Chr11:94179723 [GRCh38] Chr11:93912889 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.977A>G (p.Asn326Ser)	single nucleotide variant	not specified [RCV004841502]	Chr11:94180033 [GRCh38] Chr11:93913199 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1007A>C (p.Glu336Ala)	single nucleotide variant	not specified [RCV004841508]	Chr11:94180063 [GRCh38] Chr11:93913229 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1116G>A (p.Met372Ile)	single nucleotide variant	not specified [RCV004841505]	Chr11:94180172 [GRCh38] Chr11:93913338 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.397C>T (p.Pro133Ser)	single nucleotide variant	not specified [RCV004841509]	Chr11:94178444 [GRCh38] Chr11:93911610 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.343C>G (p.Leu115Val)	single nucleotide variant	not specified [RCV004841510]	Chr11:94178390 [GRCh38] Chr11:93911556 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.210T>G (p.Ser70Arg)	single nucleotide variant	not specified [RCV004841503]	Chr11:94153519 [GRCh38] Chr11:93886685 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1138G>A (p.Gly380Ser)	single nucleotide variant	not specified [RCV004841507]	Chr11:94180194 [GRCh38] Chr11:93913360 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.1196T>C (p.Leu399Pro)	single nucleotide variant	not specified [RCV004841504]	Chr11:94180252 [GRCh38] Chr11:93913418 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.512C>T (p.Ser171Leu)	single nucleotide variant	not specified [RCV004827676]	Chr11:94178559 [GRCh38] Chr11:93911725 [GRCh37] Chr11:11q21	uncertain significance
NM_015368.4(PANX1):c.922G>A (p.Val308Met)	single nucleotide variant	not specified [RCV004827677]	Chr11:94179978 [GRCh38] Chr11:93913144 [GRCh37] Chr11:11q21	uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:81041448-98151664)x1	copy number loss	not provided [RCV004819372]	Chr11:81041448..98151664 [GRCh37] Chr11:11q14.1-22.1	pathogenic

Predicted Target Of

	Summary Value
Count of predictions:	1195
Count of miRNA genes:	496
Interacting mature miRNAs:	533
Transcripts:	ENST00000227638, ENST00000436171
Prediction methods:	Microtar, 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
597245851	GWAS1341925_H	aspartate aminotransferase measurement QTL GWAS1341925 (human)		7e-49	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94132981	94132982	Human
597255130	GWAS1351204_H	serum alanine aminotransferase measurement QTL GWAS1351204 (human)		2e-83	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94137172	94137173	Human
597102675	GWAS1198749_H	aspartate aminotransferase measurement QTL GWAS1198749 (human)		9e-38	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94131227	94131228	Human
597605786	GWAS1662646_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1662646 (human)		6e-58	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	11	94132981	94132982	Human
597081426	GWAS1177500_H	autoimmune thyroid disease QTL GWAS1177500 (human)		5e-09	autoimmune thyroid disease		11	94179870	94179871	Human
597166864	GWAS1262938_H	serum alanine aminotransferase measurement QTL GWAS1262938 (human)		8e-65	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94137172	94137173	Human
596957532	GWAS1077051_H	thyroid peroxidase antibody measurement QTL GWAS1077051 (human)		9e-09	thyroid peroxidase antibody measurement		11	94179870	94179871	Human
597598167	GWAS1655027_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1655027 (human)		4e-32	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	11	94131227	94131228	Human
597293203	GWAS1389277_H	serum alanine aminotransferase measurement QTL GWAS1389277 (human)		5e-12	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94179870	94179871	Human
597343383	GWAS1439457_H	serum alanine aminotransferase measurement QTL GWAS1439457 (human)		2e-94	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94131227	94131228	Human
597204183	GWAS1300257_H	upper aerodigestive tract neoplasm QTL GWAS1300257 (human)		0.0000002	upper aerodigestive tract neoplasm		11	94143496	94143497	Human
597143943	GWAS1240017_H	serum alanine aminotransferase measurement QTL GWAS1240017 (human)		3e-40	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94179870	94179871	Human
597182281	GWAS1278355_H	pyruvate measurement QTL GWAS1278355 (human)		4e-08	pyruvate measurement	blood pyruvate level (CMO:0002422)	11	94135658	94135659	Human
597328392	GWAS1424466_H	eosinophil measurement QTL GWAS1424466 (human)		4e-12	eosinophil measurement		11	94128854	94128855	Human
597168714	GWAS1264788_H	aspartate aminotransferase measurement QTL GWAS1264788 (human)		6e-44	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94131227	94131228	Human
597599052	GWAS1655912_H	serum alanine aminotransferase measurement QTL GWAS1655912 (human)		2e-83	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94132981	94132982	Human
597301570	GWAS1397644_H	serum alanine aminotransferase measurement QTL GWAS1397644 (human)		5e-40	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94131227	94131228	Human
597243905	GWAS1339979_H	serum alanine aminotransferase measurement QTL GWAS1339979 (human)		2e-86	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94132981	94132982	Human
597301440	GWAS1397514_H	serum alanine aminotransferase measurement QTL GWAS1397514 (human)		2e-30	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94137172	94137173	Human
597142029	GWAS1238103_H	aspartate aminotransferase measurement QTL GWAS1238103 (human)		2e-23	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94180526	94180527	Human
597105611	GWAS1201685_H	Thyroid preparation use measurement QTL GWAS1201685 (human)		5e-11	Thyroid preparation use measurement		11	94178690	94178691	Human
597618307	GWAS1675167_H	Abnormality of the liver QTL GWAS1675167 (human)		9e-18	Abnormality of the liver		11	94132981	94132982	Human
596986996	GWAS1106515_H	serum alanine aminotransferase measurement QTL GWAS1106515 (human)		5e-12	serum alanine aminotransferase measurement		11	94179870	94179871	Human
597099253	GWAS1195327_H	aspartate aminotransferase measurement QTL GWAS1195327 (human)		5e-12	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94180526	94180527	Human
597103985	GWAS1200059_H	serum alanine aminotransferase measurement QTL GWAS1200059 (human)		7e-55	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94137172	94137173	Human
597311152	GWAS1407226_H	Thyroid preparation use measurement QTL GWAS1407226 (human)		2e-11	Thyroid preparation use measurement		11	94176914	94176915	Human
597599149	GWAS1656009_H	serum alanine aminotransferase measurement QTL GWAS1656009 (human)		6e-68	serum alanine aminotransferase measurement	serum alanine aminotransferase activity level (CMO:0000575)	11	94132981	94132982	Human
597168622	GWAS1264696_H	aspartate aminotransferase measurement QTL GWAS1264696 (human)		9e-13	aspartate aminotransferase measurement	blood aspartate aminotransferase activity level (CMO:0000580)	11	94179472	94179473	Human
597060206	GWAS1156280_H	hypothyroidism QTL GWAS1156280 (human)		6e-09	hypothyroidism		11	94179472	94179473	Human
597606373	GWAS1663233_H	aspartate aminotransferase to alanine aminotransferase ratio QTL GWAS1663233 (human)		7e-44	aspartate aminotransferase to alanine aminotransferase ratio	serum aspartate aminotransferase activity level to alanine aminotransferase activity level ratio (CMO:0002245)	11	94132981	94132982	Human
597062056	GWAS1158130_H	squamous cell lung carcinoma QTL GWAS1158130 (human)		0.000004	squamous cell lung carcinoma		11	94143496	94143497	Human

SHGC-149437

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	93,908,462 - 93,908,756	UniSTS	GRCh37
Build 36	11	93,548,110 - 93,548,404	RGD	NCBI36
Celera	11	91,196,282 - 91,196,576	RGD
Cytogenetic Map	11	q21	UniSTS
HuRef	11	89,983,619 - 89,983,913	UniSTS
TNG Radiation Hybrid Map	11	43369.0	UniSTS

WIAF-1483

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	11	93,914,923 - 93,915,073	UniSTS	GRCh37
Build 36	11	93,554,571 - 93,554,721	RGD	NCBI36
Celera	11	91,202,743 - 91,202,893	RGD
Cytogenetic Map	11	q21	UniSTS
HuRef	11	89,990,080 - 89,990,230	UniSTS
GeneMap99-GB4 RH Map	11	315.21	UniSTS
NCBI RH Map	11	791.6	UniSTS

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

Download All Expressed Objects for this Gene

adipose tissue	alimentary part of gastrointestinal system	appendage	circulatory system	ectoderm	endocrine system	endoderm	entire extraembryonic component	exocrine system	hemolymphoid system	hepatobiliary system	integumental system	mesenchyme	mesoderm	musculoskeletal system	nervous system	pharyngeal arch	renal system	reproductive system	respiratory system	sensory system	visual system
1204	2439	2788	2253	4973	1726	2351	6	624	1950	465	2269	7305	6471	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_027936	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_015368	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011542734	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017017464	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047426702	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368280	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054368281	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF398509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010945	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AH010983	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK074897	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK313074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP002784	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AP003966	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY048509	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AY359023	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC016931	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CA418094	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471065	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068267	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ782865	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FM201789	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000227638 ⟹ ENSP00000227638

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	94,128,841 - 94,181,968 (+)	Ensembl

Ensembl Acc Id:

ENST00000436171 ⟹ ENSP00000411461

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	11	94,128,929 - 94,181,966 (+)	Ensembl

RefSeq Acc Id:

NM_015368 ⟹ NP_056183

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,128,841 - 94,181,968 (+)	NCBI
GRCh37	11	93,862,094 - 93,918,762 (+)	NCBI
Build 36	11	93,501,742 - 93,554,786 (+)	NCBI Archive
HuRef	11	89,937,250 - 89,990,295 (+)	ENTREZGENE
CHM1_1	11	93,745,100 - 93,798,158 (+)	NCBI
T2T-CHM13v2.0	11	94,045,617 - 94,098,852 (+)	NCBI

Sequence:

show sequence

GTACTTGGTTTCCCCGCATGGTTCCGGAAGAGCGCGGCGCAGCTGGCTGTGAGCGCAGGGCTATCCCGGCGGCCGCTTCGGCAGCCAGGGCGGCGCGGAGGGGCAGGGCCAGAGGGAAGCGCTTTGTT
CCGCGCGTGGTTCCCGCGCCTGGGGGTGCGCGGGAGAGGCGCGAATCCGAGTGCCGCGCGCGGCCCGGGGACTTGCACGGGCGTGCGGGGTGGAACCGCAGGAAGCGGAGCTCTCGGGTTCCCGCCCC
GCCCCGCCCCGCCGGCGGCGGAGGCAGCGAGCGCGAGAGCCCAGCGGAGTCGCTGGGAGCCTGAGGCACCGAGACACAAAGGCAGGCGGGATGCGGGAGCAGGCAAAGGGAAAGCGAAAGCCGCGCGC
CCGGCCGGTGACTGGGTGAAGGCGCCGCGCAGCTTTCCCGACGCCGGCTGTACCCGGACCTCCTGGTCGAGCCTGGCGCGCCGCAGCCATGGCCATCGCTCAACTGGCCACGGAGTACGTGTTCTCGG
ATTTCTTGCTGAAGGAGCCCACGGAGCCCAAGTTCAAGGGGCTGCGACTGGAGCTGGCTGTGGACAAGATGGTCACGTGCATTGCGGTGGGGCTGCCCCTGCTGCTCATCTCGCTGGCCTTCGCGCAG
GAGATCTCGATTGGTACACAGATAAGCTGTTTCTCTCCAAGTTCTTTCTCCTGGCGTCAGGCTGCCTTTGTGGATTCATATTGCTGGGCGGCTGTTCAGCAGAAGAACTCACTGCAGAGCGAGTCTGG
AAACCTCCCACTGTGGCTGCATAAGTTTTTCCCCTACATCCTGCTGCTCTTTGCGATCCTCCTGTACCTGCCCCCGCTGTTCTGGCGTTTCGCAGCTGCTCCTCATATTTGCTCAGACTTGAAGTTTA
TCATGGAAGAACTTGACAAAGTTTACAACCGTGCAATTAAGGCTGCAAAGAGTGCGCGTGACCTTGACATGAGAGATGGAGCCTGCTCAGTTCCAGGTGTTACCGAGAACTTAGGGCAAAGTTTGTGG
GAGGTATCTGAAAGCCACTTCAAGTACCCAATTGTGGAGCAGTACTTGAAGACAAAGAAAAATTCTAATAATTTAATCATCAAGTACATTAGCTGCCGCCTGCTGACACTCATCATTATACTGTTAGC
GTGTATCTACCTGGGCTATTACTTCAGCCTCTCCTCACTCTCAGACGAGTTTGTGTGCAGCATCAAATCAGGGATCCTGAGAAACGACAGCACCGTGCCCGATCAGTTTCAGTGCAAACTCATTGCCG
TGGGCATCTTCCAGTTGCTCAGTGTCATTAACCTTGTGGTTTATGTCCTGCTGGCTCCCGTGGTTGTCTACACGCTGTTTGTTCCATTCCGACAGAAGACAGATGTTCTCAAAGTGTACGAAATCCTC
CCCACTTTTGATGTTCTGCATTTCAAATCTGAAGGGTACAACGATTTGAGCCTCTACAATCTCTTCTTGGAGGAAAATATAAGTGAGGTCAAGTCATACAAGTGTCTTAAGGTACTGGAGAATATTAA
GAGCAGTGGTCAGGGGATCGACCCAATGCTACTCCTGACAAACCTTGGCATGATCAAGATGGATGTTGTTGATGGCAAAACTCCCATGTCTGCAGAGATGAGAGAGGAGCAGGGGAACCAGACGGCAG
AGCTCCAAGGTATGAACATAGACAGTGAAACTAAAGCAAATAATGGAGAGAAGAATGCCCGACAGAGACTTCTGGATTCTTCTTGCTGATGATTTTTTTCCTTGAGCTGTAAATCTGTGACTTCTGCG
ACATGGGATTTAATTTGGCTAAAGCACCCCTGTTGGTTTCACAGCTGGTTTGCAATAAATGGTTCTTGGTGGAGATACTGAGCATGTCTTATTGAGTCCCTAATGGAAATGGTGATCAACAAAAGGTT
ATGGAAGAATGGTTTATGAACTTCCCATAGGAAGCACCTGAGAGATAGTAAACTGCAGCAAGTAACTATGTGTAAGTCCTCATCAAATGAAAAGCAGAAAGACAAGAACAATTAGTCAAGAGCAGTAG
CCCTGTCAGAGCCTCGGAGCAATACCTTTCTGTACCCGTGGTGAGACAAGACCCAGAGCTACTGGAAAACAAGCACTTTGGAAGATTTGTTTTGTTTTCATGGAATAATAATATGTCAGGGTATAATT
TAACGTGAGTTTCTTATGTGCCCTTAAAGACTGTTAGACAAGAAAAGCATTCACTGGCTAATAATCCATAGGTCGACCTATGTCCTAAGTTAGGTGTAAGGTCCGATGCCTTGGCCCACACTCGAGCT
CTCTTTACATTGTTAGTTGTCAACCTTGGCTGATGGAAATCCCGTAACCACTATTTGTTGCACTGTGCCTTGAAGGGCAGCAGGCCCAAGTGCTGCTCTGACTGAAAACTGAGTTAACAAGATGAAAT
CTAAAGGATATTCACAGTGACTTCAATTCAGGAAGAATGCTTCCAAAAGAGCCCAGTGGGGAAATCTGACATCACAGAAGACATTAATTCAGTCACTTTCAAAGAGTTTGTCTACAGGCGGTTTCTCT
GTTATCAAAGGCATTTGAAATAGGATTTTACTTAAACAATAATGGAACACAGGAGTATTTAAAGTGAAGAACACTTTGCCTGAATGTGATCAGGGCACATAAGTGACATTGGCATGCTTCATATGGCG
TGCTTGGAGCCAGAAAAACTTAGCGGTTTATTTTGTTTATATTTAAGCACAGCTTTAAAAAATTCATTATCGTTTATTCAGTGTCCGAATTGAGGCCATTTGGGAAGAAAATTCTAGCACTGGTGGAG
AATTATAGAATAAAGATTATAAATGGTTGGATAAGA

hide sequence

RefSeq Acc Id:

XM_011542734 ⟹ XP_011541036

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,153,563 - 94,181,968 (+)	NCBI

Sequence:

show sequence

CTGGGCGGCTGTTCAGCAGAAGAACTCACTGCAGAGCGAGTCTGGAAACCTCCCACTGTGGCTG
CATAAGGCTTGTTCATTTACCTTGGTGCTCTGGATGAGTGAGAATTCAACAGACAAACACGGAGGAAAGGATTCCAAGCAGAGGAAAGAGGATTCCAAAGGGCCACAGAGCCAGCTATGAATTATGCA
GCCAAAATTCAGCTAATCACAGCCTGCTTTGTGTGTCATTGTGTAGCAGCCCTTTGCAAATTGGGTTAATACTTTTGAAACACCTCATCCCGTGCCAGAATGCCAAAGTAAAGCAGCTGTCTTGTTTT
TCCCCTACATCCTGCTGCTCTTTGCGATCCTCCTGTACCTGCCCCCGCTGTTCTGGCGTTTCGCAGCTGCTCCTCATATTTGCTCAGACTTGAAGTTTATCATGGAAGAACTTGACAAAGTTTACAAC
CGTGCAATTAAGGCTGCAAAGAGTGCGCGTGACCTTGACATGAGAGATGGAGCCTGCTCAGTTCCAGGTGTTACCGAGAACTTAGGGCAAAGTTTGTGGGAGGTATCTGAAAGCCACTTCAAGTACCC
AATTGTGGAGCAGTACTTGAAGACAAAGAAAAATTCTAATAATTTAATCATCAAGTACATTAGCTGCCGCCTGCTGACACTCATCATTATACTGTTAGCGTGTATCTACCTGGGCTATTACTTCAGCC
TCTCCTCACTCTCAGACGAGTTTGTGTGCAGCATCAAATCAGGGATCCTGAGAAACGACAGCACCGTGCCCGATCAGTTTCAGTGCAAACTCATTGCCGTGGGCATCTTCCAGTTGCTCAGTGTCATT
AACCTTGTGGTTTATGTCCTGCTGGCTCCCGTGGTTGTCTACACGCTGTTTGTTCCATTCCGACAGAAGACAGATGTTCTCAAAGTGTACGAAATCCTCCCCACTTTTGATGTTCTGCATTTCAAATC
TGAAGGGTACAACGATTTGAGCCTCTACAATCTCTTCTTGGAGGAAAATATAAGTGAGGTCAAGTCATACAAGTGTCTTAAGGTACTGGAGAATATTAAGAGCAGTGGTCAGGGGATCGACCCAATGC
TACTCCTGACAAACCTTGGCATGATCAAGATGGATGTTGTTGATGGCAAAACTCCCATGTCTGCAGAGATGAGAGAGGAGCAGGGGAACCAGACGGCAGAGCTCCAAGGTATGAACATAGACAGTGAA
ACTAAAGCAAATAATGGAGAGAAGAATGCCCGACAGAGACTTCTGGATTCTTCTTGCTGATGATTTTTTTCCTTGAGCTGTAAATCTGTGACTTCTGCGACATGGGATTTAATTTGGCTAAAGCACCC
CTGTTGGTTTCACAGCTGGTTTGCAATAAATGGTTCTTGGTGGAGATACTGAGCATGTCTTATTGAGTCCCTAATGGAAATGGTGATCAACAAAAGGTTATGGAAGAATGGTTTATGAACTTCCCATA
GGAAGCACCTGAGAGATAGTAAACTGCAGCAAGTAACTATGTGTAAGTCCTCATCAAATGAAAAGCAGAAAGACAAGAACAATTAGTCAAGAGCAGTAGCCCTGTCAGAGCCTCGGAGCAATACCTTT
CTGTACCCGTGGTGAGACAAGACCCAGAGCTACTGGAAAACAAGCACTTTGGAAGATTTGTTTTGTTTTCATGGAATAATAATATGTCAGGGTATAATTTAACGTGAGTTTCTTATGTGCCCTTAAAG
ACTGTTAGACAAGAAAAGCATTCACTGGCTAATAATCCATAGGTCGACCTATGTCCTAAGTTAGGTGTAAGGTCCGATGCCTTGGCCCACACTCGAGCTCTCTTTACATTGTTAGTTGTCAACCTTGG
CTGATGGAAATCCCGTAACCACTATTTGTTGCACTGTGCCTTGAAGGGCAGCAGGCCCAAGTGCTGCTCTGACTGAAAACTGAGTTAACAAGATGAAATCTAAAGGATATTCACAGTGACTTCAATTC
AGGAAGAATGCTTCCAAAAGAGCCCAGTGGGGAAATCTGACATCACAGAAGACATTAATTCAGTCACTTTCAAAGAGTTTGTCTACAGGCGGTTTCTCTGTTATCAAAGGCATTTGAAATAGGATTTT
ACTTAAACAATAATGGAACACAGGAGTATTTAAAGTGAAGAACACTTTGCCTGAATGTGATCAGGGCACATAAGTGACATTGGCATGCTTCATATGGCGTGCTTGGAGCCAGAAAAACTTAGCGGTTT
ATTTTGTTTATATTTAAGCACAGCTTTAAAAAATTCATTATCGTTTATTCAGTGTCCGAATTGAGGCCATTTGGGAAGAAAATTCTAGCACTGGTGGAGAATTATAGAATAAAGATTATAAATGGTTG
GATAAGACAAATGTAAGCTTATTTCATAAACATTTAAAGCTGATTCAGAACATGTTAAAAACTGTTCCCAATTCCAACTATGTAAATAGATCCTATGTTCACATTTTACACACACACACAAAAATCTT
TAACATCTGTGGAACTTCCCAGTTTTAGTCTTAGAAAGTTAGCATGTTGCATAAGTTCAGTAATCCTCAGGAACCTCCAAGTTTACTTTTAGCTCTTACGGACAGTTGTTTACATAATCTAATTACTG
TTTTCTGAAGAACGGAAATTATATAAGCTGCTGTCTGCCTTTTGGAATATTCAGAAAAGCAGATTTTATTTGTACTTCTGTGATGTTTTCTGAAATGGAAAGCTGATGATAAATATCAAAGTAGCAAT
CAGTGCGTTAAATTATTCTGTTACATGATATTTATTACTGTTGAATTATTCTGTGACTTAGAAATGGCAGTAACCTAAATAATGGAATTTGCAAAATTATTATATTGCCGTATCTGAGATGTTCCATC
ACAAGTTTCTACACTGGTTTCTTTTGAAAATTTAAAAAGATTTACGAGATACATTTTCTAGGATATGATTTTTTTTTTACAAAAAGCTTCATCTTCTGTAGACTATCCTTAATTTCTATTTTGAAACG
GTAAAAATTGATATTTTAGGACACCAGGAAGTCTCCAAGCCATTCCCACTCTCTGAACTCCAGTAGGGTCTGTGATGTCCCAGGCACCAGTACCAAGTTGGATGTGCAGATATGCATAGGCAGGTCCC
ATCCTTGAGGACTTCAGAGTCCAGTAAAAGGCAGCAGAAACATGGGCTGGTGCCTAAGAGGAGAAAGCGTAGCCACAGTAAAGGCTATGCCAGAAAACTCCTAGCAAATGCTCTGTGTTCTTGGGAGA
GGGCACATTGTTTTTGTTTTCTCTCCTATAGTTCCTGTAACTGCTGGTTTTGAGAATATAGTAATCATTTTTCCCAGAGGCAGATGACCACCTTAAGGTTCTTTAGCTGCAAATCCTCTAGGTTGAAG
TTTGTGTGAAATAGTCACAGTGATTTTGAATAGTAAGGAATCCAGTTGCCTTTTGAACCTTCCCTCACAGGGATGAGAGAACAAGCCTGTGGAGGTTGTGGAGCTACTGGTAAACAACTGTCAGGGCC
CCAGAAGGCTGATGTGGAGGCCTGGGGATACATTTCATCTAATAAAAGTATTACTAGGTATCAGTATCAGTAATAAAAGTATTATAATAAAGTATCAGTAATAAAAGTATTATAATAAAAAGTATTAT
TAGGACAGGTAAACTCATCCATCTACTGTGAGCTGCTGGCTTGGAGAACGACTTTTGAGGAGCCAGTTTCCTGAGGAGAAATGCTTTTATAAAGCACTCATTGCTTTGTAAAAGGAGACAAAACTGAT
CCTAAATGACCACTCCAGGGTTGCTGATTTTGTTTCTGGCTCATGTCTGCCTAGTAAACCACCAGCAAGCTGCTGAACCAGGCTGGAAACAACATTGTTGCAACTGGGAGGGACATAGAGTACTGTGA
AAGCAGCGTTCCAACACATCTTCACTTTTACAAAGGGATAGGCAGAGACTTCCAACATAGAGGTTCTTAAACTTCGAGGGGTTACAATCCCCTTGCAAATATTTTTATAGCTATGGACCCTCTCCTCA
GATCTACAGCCAACATTTTCAGTGCACCTTAGGAGGTCATTTTAGTCCACGCCTCTGAAAAAGCTGCACTCCAACGGCTGAAGAGCAAGCCATACGGCCGAGAATGGGGCTCCCTTTGCCTTCATGAA
AGCTACTTCCCCCAACACTAAGACTCAGCTGTACGTTTGCTTAGCTCAGTCACATTTACATTCTTCTGGGTGAACTGTACCTTTTGAGTACCTGCCTTCATTTTCTAGAATCAGACCTAACAAGGTCA
GTAGAAGCCTGGGCAGCAGCAGGCCTGGAAAGACGAGGCAGCCAGCATGAACTGCTGTTCTCTCCCTGACCACAAGGCGTCGTCTTCCTCCAGGGTCAAGTAATTGTTCTTGTTCCGCCTCACAGGAA
TGTGGGGAGGAAGGACGTAACACTATAAAATGCTGCGTCCTACCTTAAACTTGTACTGTGAGAAAGCTGGAAACTTCCACCTGTACAGTGGGTCTGGTTTGCATGTTTAGTTTCATTTGTGGGAACTG
CTTGTCCAAGAGTGAGCTCAGGTCAGGGCAGTTTGTGCCTATGAGAATTAGCTCAGCTATCAGGCAGGTTTTTAGACACCTTTTTAAAATGTGCTCGTGTTTGGTTTGTTTTGCTTACTGTCAGTCCT
GGGTCAATCAAAGGTTTGTAAGGGTGAGAATTTTTATGCACTGCTATATCGCAAGTGCTTAAAACAGAGACTGGCCCAGATGAGGCATTCTTCAAATGTTTGTTGAAATGAATGGACAAACTCTTAGG
ATAAATCCTAATTTGTTGGCAACTGTTATTTGATTTTAGAAGGCAAACTGATTTTATTTTAGAGAGGGGAAGGGGAGGGGAGGCTCATTAGCCTCTTGGTAGAAAGAGGACTATTTCTGCAAATGAAT
AGGTTTCCACCTTAAGTAGTGACAGTCCTTAACTTCTTATTATGGAGTGAGTCTTGACCGCTTTCCAAGTTCAATAGAAGTTCAAGATTGCCTCTCAGTGATTAGGGAAATTGAAGCTTTTAAAGCTC
CTGGTCTCAGTAATTCCTCAGAATAAACCTCTTTAAAAGGGATATTGATGGAAATGTACAATTACCAGTAATTGAGGTTTTATCTGAGGGGATGGAGATGATGAAATGGTTCCTTCTTGGAAGTTGTT
GGCATTTTGGCTTTATTTTTCACAAATAAAGTGAAACCATTTAAAACGATTGACAACGATTATATAGTGCCATGTGGAATACAATAGATATTAATTTGTGGTTGGTTTTTCTGCCTGCTTTAAATGAA
ATGTATTATGTTTCTGGGTTCCTTTTTTAGCTGTAAAAATACTTCGTCACTAAAGCATGAAATTTAATCAGCAGTTGTTCTTCAAGTTCCTGAAAGCTATAAAAGTTTCTCATGACTTGAGTGGTTTT
TTCCCTGCCCACCAGAGGAGAAAGCCCTTGTAGAATTCTGCAGTGTTACAAGTGTTCCCTACAAAAACTGAAACCATCAGCTCCTCTTTAACAAGTTGGCTTTTTAAAAGCACGTAATTACAATTTAA
TGGTATTCTGTAAAGTGGTGCTTTAGGCATAATTTAAATTCTTTTTAATGACTATATTTCTTCAAAACTTTGAAAGAAAAATGTGTTCTTTTTGCTGCATCCTTTGTAAGAAGACTGCCAACAGAGGA
AAAAGGACTTTACAAATTAAGACCATCTTGGTTTCATTTCCACAAAGATGAGAACAAATCATGGTGTTAGGAAAGGATCCTTAGAAGAACACAAGAATTTGAAAGCCCTTGGTGGTTATCACTACTAT
ATTTCATATTTCCACAGAAGTGACTTAGCCAAGCTCTGCATTTTGAGCCTGCTGACTTTCATTTAAAAGGAATGAAAGGCTGAAAATCCAGGCTGCTGTGTCTGTAGATAAAGGTCAAACCATGTTTG
AGTTCTTCACTGTTGTGTCCACCTAAATAAAACTGAGTAAGTAATGAAAAA

hide sequence

RefSeq Acc Id:

XM_047426702 ⟹ XP_047282658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,153,549 - 94,181,968 (+)	NCBI

RefSeq Acc Id:

XM_054368280 ⟹ XP_054224255

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	94,070,447 - 94,098,852 (+)	NCBI

RefSeq Acc Id:

XM_054368281 ⟹ XP_054224256

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	11	94,070,433 - 94,098,852 (+)	NCBI


Protein RefSeqs	NP_056183	(Get FASTA)	NCBI Sequence Viewer
	XP_011541036	(Get FASTA)	NCBI Sequence Viewer
	XP_047282658	(Get FASTA)	NCBI Sequence Viewer
	XP_054224255	(Get FASTA)	NCBI Sequence Viewer
	XP_054224256	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH16931	(Get FASTA)	NCBI Sequence Viewer
	AAK73361	(Get FASTA)	NCBI Sequence Viewer
	AAK91713	(Get FASTA)	NCBI Sequence Viewer
	AAK91714	(Get FASTA)	NCBI Sequence Viewer
	AAL06604	(Get FASTA)	NCBI Sequence Viewer
	AAQ89382	(Get FASTA)	NCBI Sequence Viewer
	BAC11276	(Get FASTA)	NCBI Sequence Viewer
	CAF86093	(Get FASTA)	NCBI Sequence Viewer
	CAR31475	(Get FASTA)	NCBI Sequence Viewer
	EAW66924	(Get FASTA)	NCBI Sequence Viewer
	EAW66925	(Get FASTA)	NCBI Sequence Viewer
	EAW66926	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000227638
	ENSP00000227638.3
	ENSP00000411461.2
GenBank Protein	Q96RD7	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_056183 ⟸ NM_015368

- UniProtKB:

Q96L77 (UniProtKB/Swiss-Prot), Q96AM9 (UniProtKB/Swiss-Prot), Q6UW26 (UniProtKB/Swiss-Prot), Q543A0 (UniProtKB/Swiss-Prot), O75968 (UniProtKB/Swiss-Prot), Q96RS5 (UniProtKB/Swiss-Prot), Q96RD7 (UniProtKB/Swiss-Prot), B6ETL5 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MAIAQLATEYVFSDFLLKEPTEPKFKGLRLELAVDKMVTCIAVGLPLLLISLAFAQEISIGTQISCFSPSSFSWRQAAFVDSYCWAAVQQKNSLQSESGNLPLWLHKFFPYILLLFAILLYLPPLFWR
FAAAPHICSDLKFIMEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLGQSLWEVSESHFKYPIVEQYLKTKKNSNNLIIKYISCRLLTLIIILLACIYLGYYFSLSSLSDEFVCSIKSGILRND
STVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFRQKTDVLKVYEILPTFDVLHFKSEGYNDLSLYNLFLEENISEVKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDVVDGKTPM
SAEMREEQGNQTAELQGMNIDSETKANNGEKNARQRLLDSSC

hide sequence

RefSeq Acc Id:

XP_011541036 ⟸ XM_011542734

- Peptide Label:

isoform X1

- Sequence:

show sequence

MEELDKVYNRAIKAAKSARDLDMRDGACSVPGVTENLGQSLWEVSESHFKYPIVEQYLKTKKNS
NNLIIKYISCRLLTLIIILLACIYLGYYFSLSSLSDEFVCSIKSGILRNDSTVPDQFQCKLIAVGIFQLLSVINLVVYVLLAPVVVYTLFVPFRQKTDVLKVYEILPTFDVLHFKSEGYNDLSLYNLF
LEENISEVKSYKCLKVLENIKSSGQGIDPMLLLTNLGMIKMDVVDGKTPMSAEMREEQGNQTAELQGMNIDSETKANNGEKNARQRLLDSSC

hide sequence

Ensembl Acc Id:

ENSP00000227638 ⟸ ENST00000227638

Ensembl Acc Id:

ENSP00000411461 ⟸ ENST00000436171

RefSeq Acc Id:	XP_047282658 ⟸ XM_047426702
- Peptide Label:	isoform X1

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96RD7-F1-model_v2	AlphaFold	Q96RD7	1-426	view protein structure

RGD ID:

6789201

Promoter ID:

HG_KWN:13970

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:

NM_015368, UC001PEQ.2

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	11	93,501,459 - 93,501,959 (+)	MPROMDB

RGD ID:

7221831

Promoter ID:

EPDNEW_H16661

Type:

initiation region

Name:

PANX1_1

Description:

pannexin 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16662

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,128,874 - 94,128,934	EPDNEW

RGD ID:

7221833

Promoter ID:

EPDNEW_H16662

Type:

initiation region

Name:

PANX1_2

Description:

pannexin 1

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H16661

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	11	94,129,145 - 94,129,205	EPDNEW

Database	Acc Id	Source(s)
COSMIC	PANX1	COSMIC
Ensembl Genes	ENSG00000110218	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000227638	ENTREZGENE
	ENST00000227638.8	UniProtKB/Swiss-Prot
	ENST00000436171.2	UniProtKB/Swiss-Prot
GTEx	ENSG00000110218	GTEx
HGNC ID	HGNC:8599	ENTREZGENE
Human Proteome Map	PANX1	Human Proteome Map
InterPro	Innexin	UniProtKB/Swiss-Prot
	Pannexin	UniProtKB/Swiss-Prot
KEGG Report	hsa:24145	UniProtKB/Swiss-Prot
NCBI Gene	24145	ENTREZGENE
OMIM	608420	OMIM
PANTHER	PANNEXIN-1	UniProtKB/Swiss-Prot
	PTHR15759	UniProtKB/Swiss-Prot
Pfam	Innexin	UniProtKB/Swiss-Prot
PharmGKB	PA32929	PharmGKB
PROSITE	PANNEXIN	UniProtKB/Swiss-Prot
UniProt	B6ETL5	ENTREZGENE, UniProtKB/TrEMBL
	O75968	ENTREZGENE
	PANX1_HUMAN	UniProtKB/Swiss-Prot
	Q543A0	ENTREZGENE
	Q6UW26	ENTREZGENE
	Q96AM9	ENTREZGENE
	Q96L77	ENTREZGENE
	Q96RD7	ENTREZGENE
	Q96RS5	ENTREZGENE
UniProt Secondary	O75968	UniProtKB/Swiss-Prot
	Q543A0	UniProtKB/Swiss-Prot
	Q6UW26	UniProtKB/Swiss-Prot
	Q96AM9	UniProtKB/Swiss-Prot
	Q96L77	UniProtKB/Swiss-Prot
	Q96RS5	UniProtKB/Swiss-Prot

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 - CTD

Imported Disease Annotations - OMIM

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Imported Human Phenotype Annotations - HPO

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