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Gene: SNU13 (small nuclear ribonucleoprotein 13) Homo sapiens

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Symbol:

SNU13

Name:

small nuclear ribonucleoprotein 13

RGD ID:

1347136

HGNC Page

HGNC:7819

Description:

Enables ATPase binding activity and RNA binding activity. Contributes to snoRNA binding activity. Involved in mRNA splicing, via spliceosome and ribosomal small subunit biogenesis. Located in dense fibrillar component. Part of several cellular components, including U2-type precatalytic spliceosome; box C/D methylation guide snoRNP complex; and spliceosomal snRNP complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

15.5K; [U4/U6.U5] tri-snRNP 15.5 kD RNA binding protein; FA-1; FA1; high mobility group-like nuclear protein 2 homolog 1; NHP2 non-histone chromosome protein 2-like 1; NHP2-like protein 1; NHP2L1; NHPX; non-histone chromosome protein 2-like 1; OTK27; small nuclear ribonucleoprotein 15.5kDa (U4/U6.U5); SNRNP15-5; SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5); SPAG12; sperm specific antigen 1; SSFA1; U4/U6.U5 small nuclear ribonucleoprotein SNU13; U4/U6.U5 tri-snRNP 15.5 kDa protein

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Related Pseudogenes:

AC106748.1 LOC647503

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	22	41,673,933 - 41,690,480 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,673,933 - 41,690,504 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	42,069,937 - 42,084,871 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,399,883 - 40,414,859 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	40,394,437 - 40,403,056	NCBI
Celera	22	25,876,373 - 25,891,348 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	25,035,346 - 25,050,319 (-)	NCBI		HuRef
CHM1_1	22	42,029,949 - 42,044,925 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,152,913 - 42,169,470 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SNU13	Human	adenylosuccinase lyase deficiency		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Adenylosuccinate lyase deficiency	ClinVar	PMID:28492532
SNU13	Human	common variable immunodeficiency 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Immunodeficiency more ...	ClinVar	PMID:28492532
SNU13	Human	common variable immunodeficiency 4		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Immunodeficiency more ...	ClinVar	PMID:19666484 and PMID:28492532

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SNU13	Human	(1->4)-beta-D-glucan	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of SNU13 mRNA	CTD	PMID:36331819
SNU13	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SNU13 mRNA	CTD	PMID:22206623
SNU13	Human	1-chloro-2,4-dinitrobenzene	affects binding	EXP		6480464	Dinitrochlorobenzene binds to SNU13 protein	CTD	PMID:32991956
SNU13	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SNU13 mRNA	CTD	PMID:17942748
SNU13	Human	2,3',4,4',5-Pentachlorobiphenyl	increases expression	ISO	Snu13 (Mus musculus)	6480464	2 more ...	CTD	PMID:31388691
SNU13	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Snu13 (Mus musculus)	6480464	Tetrachlorodibenzodioxin affects the expression of SNU13 mRNA	CTD	PMID:21570461
SNU13	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of SNU13 mRNA	CTD	PMID:33387578
SNU13	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SNU13 mRNA and Tetrachlorodibenzodioxin promotes the reaction [AHR protein binds to SNU13 promoter]	CTD	PMID:17942748 and PMID:19654925
SNU13	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Snu13 (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of SNU13 mRNA	CTD	PMID:21354282
SNU13	Human	2-hydroxypropanoic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of SNU13 mRNA	CTD	PMID:30851411
SNU13	Human	4,4'-sulfonyldiphenol	increases expression	ISO	Snu13 (Mus musculus)	6480464	bisphenol S results in increased expression of SNU13 mRNA	CTD	PMID:39298647
SNU13	Human	4,4'-sulfonyldiphenol	increases expression	EXP		6480464	bisphenol S results in increased expression of SNU13 protein	CTD	PMID:34186270
SNU13	Human	5-azacytidine	increases expression	EXP		6480464	Azacitidine results in increased expression of SNU13 mRNA	CTD	PMID:20823114
SNU13	Human	acrolein	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of SNU13 mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased expression of SNU13 mRNA	CTD	PMID:32699268
SNU13	Human	alpha-pinene	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of SNU13 mRNA and [Air Pollutants results in increased abundance of [Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone]] which results in increased expression of SNU13 mRNA	CTD	PMID:32699268
SNU13	Human	ammonium chloride	affects expression	ISO	Snu13 (Rattus norvegicus)	6480464	Ammonium Chloride affects the expression of SNU13 mRNA	CTD	PMID:16483693
SNU13	Human	arsane	affects expression	EXP		6480464	Arsenic affects the expression of SNU13 mRNA	CTD	PMID:18414638
SNU13	Human	arsenic atom	affects expression	EXP		6480464	Arsenic affects the expression of SNU13 mRNA	CTD	PMID:18414638
SNU13	Human	arsenite(3-)	multiple interactions	EXP		6480464	arsenite promotes the reaction [G3BP1 protein binds to SNU13 mRNA] and arsenite promotes the reaction [G3BP1 protein binds to SNU13 protein]	CTD	PMID:32406909
SNU13	Human	arsenous acid	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of SNU13 protein	CTD	PMID:25419056
SNU13	Human	benzo[a]pyrene	increases expression	ISO	Snu13 (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of SNU13 mRNA	CTD	PMID:22228805
SNU13	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of SNU13 3' UTR	CTD	PMID:27901495
SNU13	Human	bisphenol A	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of SNU13 mRNA	CTD	PMID:25181051
SNU13	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of SNU13 protein	CTD	PMID:34186270
SNU13	Human	butan-1-ol	multiple interactions	EXP		6480464	[[Gasoline co-treated with 1-Butanol] results in increased abundance of [Particulate Matter co-treated with Polycyclic Aromatic Hydrocarbons]] which results in increased expression of SNU13 mRNA	CTD	PMID:29432896
SNU13	Human	carbon nanotube	increases expression	ISO	Snu13 (Mus musculus)	6480464	Nanotubes and Carbon results in increased expression of SNU13 mRNA	CTD	PMID:25554681
SNU13	Human	CGP 52608	multiple interactions	EXP		6480464	CGP 52608 promotes the reaction [RORA protein binds to SNU13 gene]	CTD	PMID:28238834
SNU13	Human	choline	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SNU13 gene	CTD	PMID:20938992
SNU13	Human	chromium(6+)	affects expression	ISO	Snu13 (Mus musculus)	6480464	chromium hexavalent ion affects the expression of SNU13 mRNA	CTD	PMID:28472532
SNU13	Human	cobalt dichloride	decreases expression	EXP		6480464	cobaltous chloride results in decreased expression of SNU13 mRNA	CTD	PMID:19320972
SNU13	Human	decabromodiphenyl ether	decreases expression	EXP		6480464	decabromobiphenyl ether results in decreased expression of SNU13 protein	CTD	PMID:31675489
SNU13	Human	diarsenic trioxide	decreases expression	EXP		6480464	Arsenic Trioxide results in decreased expression of SNU13 protein	CTD	PMID:25419056
SNU13	Human	disodium selenite	increases expression	EXP		6480464	Sodium Selenite results in increased expression of SNU13 mRNA	CTD	PMID:18175754
SNU13	Human	elemental selenium	increases expression	EXP		6480464	Selenium results in increased expression of SNU13 mRNA	CTD	PMID:19244175
SNU13	Human	emodin	decreases expression	ISO	Snu13 (Mus musculus)	6480464	Emodin results in decreased expression of SNU13 mRNA	CTD	PMID:15612046
SNU13	Human	endosulfan	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of SNU13 mRNA	CTD	PMID:29391264
SNU13	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of SNU13 mRNA	CTD	PMID:23649840
SNU13	Human	flutamide	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Flutamide results in increased expression of SNU13 mRNA	CTD	PMID:24136188
SNU13	Human	folic acid	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[1 more ...	CTD	PMID:20938992 and PMID:22206623
SNU13	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of SNU13 protein	CTD	PMID:37730182
SNU13	Human	glafenine	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Glafenine results in increased expression of SNU13 mRNA	CTD	PMID:24136188
SNU13	Human	hydralazine	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of SNU13 mRNA	CTD	PMID:17183730
SNU13	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of SNU13 protein	CTD	PMID:32959892
SNU13	Human	L-methionine	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[Methionine deficiency co-treated with Choline deficiency co-treated with Folic Acid deficiency] results in increased methylation of SNU13 gene	CTD	PMID:20938992
SNU13	Human	lead(0)	decreases expression	EXP		6480464	Lead results in decreased expression of SNU13 mRNA	CTD	PMID:19921347
SNU13	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of SNU13 mRNA	CTD	PMID:23649840
SNU13	Human	miconazole	increases expression	ISO	Snu13 (Mus musculus)	6480464	Miconazole results in increased expression of SNU13 mRNA	CTD	PMID:27462272
SNU13	Human	nefazodone	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	nefazodone results in increased expression of SNU13 mRNA	CTD	PMID:24136188
SNU13	Human	nimesulide	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	nimesulide results in increased expression of SNU13 mRNA	CTD	PMID:24136188
SNU13	Human	ozone	multiple interactions	EXP		6480464	[Acrolein co-treated with methacrylaldehyde co-treated with alpha-pinene co-treated with Ozone] results in increased expression of SNU13 mRNA more ...	CTD	PMID:32699268
SNU13	Human	pentachlorophenol	increases expression	ISO	Snu13 (Mus musculus)	6480464	Pentachlorophenol results in increased expression of SNU13 mRNA	CTD	PMID:23892564
SNU13	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Snu13 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Cellulose] results in increased expression of SNU13 mRNA	CTD	PMID:36331819
SNU13	Human	propiconazole	increases expression	ISO	Snu13 (Mus musculus)	6480464	propiconazole results in increased expression of SNU13 mRNA	CTD	PMID:21278054
SNU13	Human	quinolin-8-ol	decreases expression	ISO	Snu13 (Mus musculus)	6480464	Oxyquinoline results in decreased expression of SNU13 mRNA	CTD	PMID:15612046
SNU13	Human	rac-lactic acid	decreases expression	EXP		6480464	Lactic Acid results in decreased expression of SNU13 mRNA	CTD	PMID:30851411
SNU13	Human	rotenone	increases expression	ISO	Snu13 (Mus musculus)	6480464	Rotenone results in increased expression of SNU13 mRNA	CTD	PMID:32937126
SNU13	Human	SB 431542	multiple interactions	EXP		6480464	[LDN 193189 co-treated with 4-(5-benzo(1 and 3)dioxol-5-yl-4-pyridin-2-yl-1H-imidazol-2-yl)benzamide co-treated with FGF2 protein] results in decreased expression of SNU13 protein	CTD	PMID:37664457
SNU13	Human	selenium atom	increases expression	EXP		6480464	Selenium results in increased expression of SNU13 mRNA	CTD	PMID:19244175
SNU13	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of SNU13 mRNA	CTD	PMID:38568856
SNU13	Human	Soman	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Soman results in increased expression of SNU13 mRNA	CTD	PMID:19281266
SNU13	Human	T-2 toxin	increases expression	EXP		6480464	T-2 Toxin results in increased expression of SNU13 mRNA	CTD	PMID:34581912
SNU13	Human	tetrachloromethane	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of SNU13 mRNA	CTD	PMID:31150632
SNU13	Human	tetrachloromethane	decreases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in decreased expression of SNU13 mRNA	CTD	PMID:33387578
SNU13	Human	thioacetamide	increases expression	ISO	Snu13 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of SNU13 mRNA	CTD	PMID:34492290
SNU13	Human	thiram	decreases expression	EXP		6480464	Thiram results in decreased expression of SNU13 mRNA	CTD	PMID:38568856
SNU13	Human	titanium dioxide	decreases methylation	ISO	Snu13 (Mus musculus)	6480464	titanium dioxide results in decreased methylation of NHP2L1 gene	CTD	PMID:35295148
SNU13	Human	trimellitic anhydride	increases expression	ISO	Snu13 (Mus musculus)	6480464	trimellitic anhydride results in increased expression of SNU13 mRNA	CTD	PMID:19042947
SNU13	Human	tungsten	increases expression	ISO	Snu13 (Mus musculus)	6480464	Tungsten results in increased expression of SNU13 mRNA	CTD	PMID:30912803
SNU13	Human	valproic acid	multiple interactions	EXP		6480464	[Hydralazine co-treated with Valproic Acid] results in increased expression of SNU13 mRNA	CTD	PMID:17183730
SNU13	Human	valproic acid	increases methylation	EXP		6480464	Valproic Acid results in increased methylation of SNU13 gene	CTD	PMID:29154799
SNU13	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of SNU13 mRNA	CTD	PMID:25979313
SNU13	Human	vincristine	decreases expression	EXP		6480464	Vincristine results in decreased expression of SNU13 mRNA	CTD	PMID:23649840
SNU13	Human	vitamin E	increases expression	EXP		6480464	Vitamin E results in increased expression of SNU13 mRNA	CTD	PMID:19244175
SNU13	Human	Yessotoxin	decreases expression	EXP		6480464	yessotoxin analog results in decreased expression of SNU13 mRNA	CTD	PMID:30679557

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)
SNU13	Human	box C/D snoRNP assembly	involved_in	IEA	UniProtKB:Q9D0T1 and ensembl:ENSMUSP00000091840	150520179		Ensembl	GO_REF:0000107
SNU13	Human	maturation of SSU-rRNA	involved_in	IBA	PANTHER:PTN000560317 and SGD:S000000752	150520179		GO_Central	GO_REF:0000033
SNU13	Human	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
SNU13	Human	mRNA splicing, via spliceosome	involved_in	IDA		150520179	PMID:28781166	UniProt	PMID:28781166
SNU13	Human	mRNA splicing, via spliceosome	involved_in	IBA	PANTHER:PTN000560317 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	mRNA splicing, via spliceosome	involved_in	IEA	UniRule:UR001184758	150520179		UniProt	GO_REF:0000104
SNU13	Human	mRNA splicing, via spliceosome	involved_in	NAS		150520179	PMID:30975767	ComplexPortal	PMID:30975767
SNU13	Human	ribosomal small subunit biogenesis	involved_in	IDA		150520179	PMID:34516797	UniProt	PMID:34516797
SNU13	Human	ribosome biogenesis	involved_in	IEA	InterPro:IPR004037	150520179		InterPro	GO_REF:0000002
SNU13	Human	RNA splicing	involved_in	IEA	UniProtKB-KW:KW-0508	150520179		UniProt	GO_REF:0000043
SNU13	Human	single fertilization	acts_upstream_of_or_within	IEA	UniProtKB:Q9D0T1 and ensembl:ENSMUSP00000091840	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)
SNU13	Human	box C/D methylation guide snoRNP complex	part_of	NAS		150520179	PMID:17636026	BHF-UCL	PMID:17636026
SNU13	Human	box C/D methylation guide snoRNP complex	part_of	IDA		150520179	PMID:11081632 and PMID:39570315	GO_Central	PMID:11081632 and PMID:39570315
SNU13	Human	box C/D methylation guide snoRNP complex	part_of	IBA	MGI:893586 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	box C/D methylation guide snoRNP complex	part_of	IEA	UniProtKB:Q9D0T1 and ensembl:ENSMUSP00000091840	150520179		Ensembl	GO_REF:0000107
SNU13	Human	dense fibrillar component	located_in	IDA		150520179	PMID:10593953	GO_Central	PMID:10593953
SNU13	Human	nucleolus	is_active_in	IBA	PANTHER:PTN000560317 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	nucleolus	located_in	IEA	InterPro:IPR002415	150520179		InterPro	GO_REF:0000002
SNU13	Human	nucleolus	located_in	IDA		150520179	PMID:10593953	GO_Central	PMID:10593953
SNU13	Human	nucleolus	located_in	IEA	UniProtKB-SubCell:SL-0188	150520179		UniProt	GO_REF:0000044
SNU13	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-6791221 more ...
SNU13	Human	nucleus	located_in	IDA		150520179	PMID:28781166	UniProt	PMID:28781166
SNU13	Human	nucleus	located_in	NAS		150520179	PMID:30975767	ComplexPortal	PMID:30975767
SNU13	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
SNU13	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
SNU13	Human	nucleus	located_in	IEA	UniRule:UR001184758	150520179		UniProt	GO_REF:0000104
SNU13	Human	precatalytic spliceosome	part_of	IBA	PANTHER:PTN000560317 and UniProtKB:P55769	150520179		GO_Central	GO_REF:0000033
SNU13	Human	protein-containing complex	part_of	IDA		150520179	PMID:17636026	BHF-UCL	PMID:17636026
SNU13	Human	ribonucleoprotein complex	part_of	IEA	UniProtKB-KW:KW-0687	150520179		UniProt	GO_REF:0000043
SNU13	Human	ribonucleoprotein complex	part_of	IEA	ARBA:ARBA00028648	150520179		UniProt	GO_REF:0000117
SNU13	Human	ribonucleoprotein complex	part_of	IEA	InterPro:IPR004037	150520179		InterPro	GO_REF:0000002
SNU13	Human	small-subunit processome	part_of	IDA		150520179	PMID:34516797	UniProt	PMID:34516797
SNU13	Human	small-subunit processome	part_of	IBA	PANTHER:PTN000560317 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	spliceosomal complex	part_of	IEA	UniProtKB-KW:KW-0747	150520179		UniProt	GO_REF:0000043
SNU13	Human	U2-type precatalytic spliceosome	part_of	IDA		150520179	PMID:28781166	UniProt	PMID:28781166
SNU13	Human	U4/U6 x U5 tri-snRNP complex	part_of	IPI		150520179	PMID:30975767	ComplexPortal	PMID:30975767
SNU13	Human	U4/U6 x U5 tri-snRNP complex	part_of	IEA	UniRule:UR001184758	150520179		UniProt	GO_REF:0000104
SNU13	Human	U4/U6 x U5 tri-snRNP complex	part_of	IBA	PANTHER:PTN000560317 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	U4/U6 x U5 tri-snRNP complex	part_of	IDA		150520179	PMID:26912367	UniProt	PMID:26912367
SNU13	Human	U4atac snRNP	part_of	IDA		150520179	PMID:21784869	UniProt	PMID:21784869

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)
SNU13	Human	ATPase binding	enables	IPI	UniProtKB:P60122 and UniProtKB:Q9WTM5	150520179	PMID:17636026	UniProt	PMID:17636026
SNU13	Human	box C/D sno(s)RNA binding	enables	IDA		150520179	PMID:11081632	GO_Central	PMID:11081632
SNU13	Human	box C/D sno(s)RNA binding	enables	IEA	UniProtKB:Q9D0T1 and ensembl:ENSMUSP00000091840	150520179		Ensembl	GO_REF:0000107
SNU13	Human	protein binding	enables	IPI	UniProtKB:Q9Y2X3	150520179	PMID:30021884 and PMID:35271311	IntAct	PMID:30021884 and PMID:35271311
SNU13	Human	protein binding	enables	IPI	UniProtKB:Q16637	150520179	PMID:32296183	IntAct	PMID:32296183
SNU13	Human	protein binding	enables	IPI	UniProtKB:O75943	150520179	PMID:10593953	GO_Central	PMID:10593953
SNU13	Human	protein binding	enables	IPI	UniProtKB:Q9UHK0	150520179	PMID:17636026	BHF-UCL	PMID:17636026
SNU13	Human	protein binding	enables	IPI	UniProtKB:Q8WWY3	150520179	PMID:17412961	BHF-UCL	PMID:17412961
SNU13	Human	protein binding	enables	IPI	UniProtKB:P04591-PRO_0000038596	150520179	PMID:22190034	IntAct	PMID:22190034
SNU13	Human	RNA binding	enables	IBA	MGI:893586 more ...	150520179		GO_Central	GO_REF:0000033
SNU13	Human	RNA binding	enables	IEA	UniRule:UR001184758	150520179		UniProt	GO_REF:0000104
SNU13	Human	RNA binding	enables	IEA	InterPro:IPR002415 and InterPro:IPR050257	150520179		InterPro	GO_REF:0000002
SNU13	Human	RNA binding	enables	HDA		150520179	PMID:22658674 and PMID:22681889	UniProt	PMID:22658674 and PMID:22681889
SNU13	Human	RNA binding	enables	IEA	UniProtKB-KW:KW-0694	150520179		UniProt	GO_REF:0000043
SNU13	Human	snoRNA binding	contributes_to	IDA		150520179	PMID:17636026	BHF-UCL	PMID:17636026
SNU13	Human	U3 snoRNA binding	enables	IDA		150520179	PMID:11081632	GO_Central	PMID:11081632
SNU13	Human	U4 snRNA binding	enables	IDA		150520179	PMID:11081632 and PMID:16857676	GO_Central	PMID:11081632 and PMID:16857676
SNU13	Human	U4atac snRNA binding	enables	IDA		150520179	PMID:16857676 and PMID:21784869	GO_Central	PMID:16857676 and PMID:21784869

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)
SNU13	Human	ribosome biogenesis pathway		TAS		9999451		RGD
SNU13	Human	spliceosome pathway		TAS		9686089		RGD

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SNU13	Human	ribosome biogenesis pathway		IEA		6907045		KEGG	hsa:03008
SNU13	Human	spliceosome pathway		IEA		6907045		KEGG	hsa:03040

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	KEGG Annotation Import Pipeline	Pipeline to import KEGG annotations from KEGG into RGD
3.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions
5.	The spliceosome: design principles of a dynamic RNP machine.	Wahl MC, etal., Cell. 2009 Feb 20;136(4):701-18. doi: 10.1016/j.cell.2009.02.009.
6.	The box C/D and H/ACA snoRNPs: key players in the modification, processing and the dynamic folding of ribosomal RNA.	Watkins NJ and Bohnsack MT, Wiley Interdiscip Rev RNA. 2012 May-Jun;3(3):397-414. doi: 10.1002/wrna.117. Epub 2011 Nov 7.

PMID:8978773	PMID:9114055	PMID:10545122	PMID:10591208	PMID:10593953	PMID:11081632	PMID:11163207	PMID:11790298	PMID:12011111	PMID:12203836	PMID:12226669	PMID:12417735
PMID:12429849	PMID:12477932	PMID:12777385	PMID:14702039	PMID:15461802	PMID:15489334	PMID:15635413	PMID:16169070	PMID:16344560	PMID:16723661	PMID:16857676	PMID:17412961
PMID:17636026	PMID:17643375	PMID:18044964	PMID:19620283	PMID:19738201	PMID:20360068	PMID:21145461	PMID:21319273	PMID:21784869	PMID:21873635	PMID:21988832	PMID:22190034
PMID:22365833	PMID:22623428	PMID:22658674	PMID:22681889	PMID:22863883	PMID:22939629	PMID:23015706	PMID:23166591	PMID:23602568	PMID:24234454	PMID:24457600	PMID:24778252
PMID:25404746	PMID:25693804	PMID:25963833	PMID:26186194	PMID:26209609	PMID:26275778	PMID:26299517	PMID:26344197	PMID:26465331	PMID:26496610	PMID:26598620	PMID:26638075
PMID:26912367	PMID:27594683	PMID:27634302	PMID:27684187	PMID:28027390	PMID:28077445	PMID:28276505	PMID:28302793	PMID:28514442	PMID:28515276	PMID:28781166	PMID:28878014
PMID:28977666	PMID:29117863	PMID:29128334	PMID:29298432	PMID:29499938	PMID:29509190	PMID:29540532	PMID:29568061	PMID:29802200	PMID:29845934	PMID:30021884	PMID:30097533
PMID:30209976	PMID:30349055	PMID:30463901	PMID:30572598	PMID:30804502	PMID:30833792	PMID:30884312	PMID:30948266	PMID:30975767	PMID:31048545	PMID:31059266	PMID:31076518
PMID:31091453	PMID:31332168	PMID:31405213	PMID:31586073	PMID:31822558	PMID:32296183	PMID:32457219	PMID:32707033	PMID:32780723	PMID:32971831	PMID:32989298	PMID:33022573
PMID:33301849	PMID:33306668	PMID:33417871	PMID:33417976	PMID:33644029	PMID:33729478	PMID:33852194	PMID:33961781	PMID:34244565	PMID:34349018	PMID:34373451	PMID:34516797
PMID:34537242	PMID:34578187	PMID:34662580	PMID:35013218	PMID:35235311	PMID:35256949	PMID:35271311	PMID:35337019	PMID:35439318	PMID:35446349	PMID:35575683	PMID:35819319
PMID:35850772	PMID:35915203	PMID:35944360	PMID:35987950	PMID:36114006	PMID:36180891	PMID:36215168	PMID:36244648	PMID:36373674	PMID:36424410	PMID:36490346	PMID:36517590
PMID:36634849	PMID:36912080	PMID:37071682	PMID:37223481	PMID:37820061	PMID:37827155	PMID:37866880	PMID:38113892	PMID:38172120	PMID:38569033	PMID:39522233

SNU13
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	22	41,673,933 - 41,690,480 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	22	41,673,933 - 41,690,504 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	22	42,069,937 - 42,084,871 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	22	40,399,883 - 40,414,859 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	22	40,394,437 - 40,403,056	NCBI
Celera	22	25,876,373 - 25,891,348 (-)	NCBI		Celera
Cytogenetic Map	22	q13.2	NCBI
HuRef	22	25,035,346 - 25,050,319 (-)	NCBI		HuRef
CHM1_1	22	42,029,949 - 42,044,925 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	22	42,152,913 - 42,169,470 (-)	NCBI		T2T-CHM13v2.0

Snu13
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	15	81,925,546 - 81,931,799 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	15	81,924,726 - 81,931,799 (-)	Ensembl		GRCm39 Ensembl
GRCm38	15	82,041,345 - 82,047,598 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	15	82,040,525 - 82,047,598 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	15	81,871,775 - 81,878,028 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	15	81,868,600 - 81,874,853 (-)	NCBI		MGSCv36	mm8
Celera	15	84,163,054 - 84,169,281 (-)	NCBI		Celera
Cytogenetic Map	15	E1	NCBI
cM Map	15	38.38	NCBI

Snu13
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	7	115,445,415 - 115,451,008 (-)	NCBI		GRCr8
mRatBN7.2	7	113,565,293 - 113,570,887 (-)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	7	113,565,295 - 113,570,872 (-)	Ensembl		mRatBN7.2 Ensembl
mRatBN7.2 Ensembl	1	259,715,711 - 259,716,758 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	7	115,321,804 - 115,327,398 (-)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	7	117,545,304 - 117,550,897 (-)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	7	117,514,748 - 117,520,342 (-)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	7	123,282,754 - 123,287,721 (-)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	7	123,282,754 - 123,287,721 (-)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	7	123,267,419 - 123,272,386 (-)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	7	120,425,064 - 120,430,031 (-)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	7	120,459,293 - 120,464,261 (-)	NCBI
Celera	7	109,881,746 - 109,886,713 (-)	NCBI		Celera
Cytogenetic Map	7	q34	NCBI

Snu13
(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_004955413	27,159,816 - 27,172,696 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955413	27,160,985 - 27,172,648 (-)	NCBI	ChiLan1.0	ChiLan1.0

SNU13
(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	23	51,503,689 - 51,518,666 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	22	54,203,002 - 54,217,985 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	22	22,567,285 - 22,582,257 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	22	40,653,338 - 40,668,216 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	22	40,653,338 - 40,669,706 (-)	Ensembl	panpan1.1		panPan2

SNU13
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	10	23,622,897 - 23,631,526 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	10	23,618,293 - 23,631,004 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	10	23,556,457 - 23,564,953 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	10	24,367,888 - 24,376,525 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	10	24,363,290 - 24,376,531 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	10	24,084,805 - 24,093,434 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	10	24,405,729 - 24,414,316 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	10	24,580,074 - 24,588,705 (+)	NCBI		UU_Cfam_GSD_1.0

Snu13
(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_024404945	7,279,382 - 7,285,470 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936492	289,770 - 297,670 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936492	289,834 - 295,883 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SNU13
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	5	6,885,067 - 6,900,022 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	5	6,891,014 - 6,900,026 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	5	4,262,171 - 4,271,206 (+)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SNU13
(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	19	24,209,356 - 24,223,431 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	19	24,206,653 - 24,216,686 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666045	101,189,312 - 101,204,220 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Snu13
(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_004624752	6,972,618 - 6,985,033 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624752	6,972,557 - 6,985,033 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SNU13
2 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	copy number gain	See cases [RCV000051684]	Chr22:37061769..50738932 [GRCh38] Chr22:37457809..51177360 [GRCh37] Chr22:35787755..49524226 [NCBI36] Chr22:22q12.3-13.33	pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3	copy number gain	See cases [RCV000051682]	Chr22:33768441..50739977 [GRCh38] Chr22:34164428..51178405 [GRCh37] Chr22:32494428..49525271 [NCBI36] Chr22:22q12.3-13.33	pathogenic
NM_001142964.1(C22orf46):c.464C>T (p.Ser155Phe)	single nucleotide variant	Malignant melanoma [RCV000072982]	Chr22:41693710 [GRCh38] Chr22:42089714 [GRCh37] Chr22:40419660 [NCBI36] Chr22:22q13.2	not provided
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	copy number gain	See cases [RCV000133646]	Chr22:16916608..50739836 [GRCh38] Chr22:17397498..51178264 [GRCh37] Chr22:15777498..49525130 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	copy number gain	See cases [RCV000134730]	Chr22:16916743..50739785 [GRCh38] Chr22:17397633..51178213 [GRCh37] Chr22:15777633..49525079 [NCBI36] Chr22:22q11.1-13.33	pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3	copy number gain	See cases [RCV000134513]	Chr22:40202014..50735806 [GRCh38] Chr22:40598018..51174234 [GRCh37] Chr22:38927964..49521100 [NCBI36] Chr22:22q13.1-13.33	pathogenic
GRCh38/hg38 22q13.2(chr22:41645339-42565798)x1	copy number loss	See cases [RCV000136528]	Chr22:41645339..42565798 [GRCh38] Chr22:42041343..42961804 [GRCh37] Chr22:40371289..41291748 [NCBI36] Chr22:22q13.2	uncertain significance
GRCh38/hg38 22q13.2(chr22:41277822-42414957)x3	copy number gain	See cases [RCV000136785]	Chr22:41277822..42414957 [GRCh38] Chr22:41673826..42810963 [GRCh37] Chr22:40003772..41140907 [NCBI36] Chr22:22q13.2	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	copy number gain	See cases [RCV000240091]	Chr22:16054691..51237518 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	copy number gain	See cases [RCV000240469]	Chr22:35728929..51220961 [GRCh37] Chr22:22q12.3-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3	copy number gain	See cases [RCV000240459]	Chr22:40425714..51220961 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	copy number gain	See cases [RCV000446956]	Chr22:16054691..51220902 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:42033410-42101539)x3	copy number gain	See cases [RCV000448749]	Chr22:42033410..42101539 [GRCh37] Chr22:22q13.2	likely benign
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	copy number gain	See cases [RCV000448847]	Chr22:16054691..51237463 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41835094-42756616)x3	copy number gain	See cases [RCV000511241]	Chr22:41835094..42756616 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	copy number gain	See cases [RCV000510873]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	copy number gain	See cases [RCV000512333]	Chr22:16888900..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.11:g.(?_41301335)_(42070317_?)del	deletion	Immunodeficiency, common variable, 4 [RCV000648330]	Chr22:41301335..42070317 [GRCh38] Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q13.2(chr22:41849322-42756616)x3	copy number gain	not provided [RCV000684486]	Chr22:41849322..42756616 [GRCh37] Chr22:22q13.2	likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3	copy number gain	not provided [RCV000741689]	Chr22:16054667..51243435 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3	copy number gain	not provided [RCV000741691]	Chr22:16114244..51195728 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3	copy number gain	not provided [RCV000741692]	Chr22:16114244..51211392 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3	copy number gain	not provided [RCV001007502]	Chr22:40502364..51197838 [GRCh37] Chr22:22q13.1-13.33	pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	copy number gain	not provided [RCV000846344]	Chr22:16888899..51197838 [GRCh37] Chr22:22q11.1-13.33	pathogenic
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	copy number gain	not provided [RCV001007181]	Chr22:30654764..51197838 [GRCh37] Chr22:22q12.2-13.33	pathogenic
GRCh37/hg19 22q13.2(chr22:41853620-42385978)x1	copy number loss	not provided [RCV001258783]	Chr22:41853620..42385978 [GRCh37] Chr22:22q13.2	uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	copy number gain	See cases [RCV001263056]	Chr22:16197005..51224252 [GRCh37] Chr22:22q11.1-13.33	pathogenic
NC_000022.10:g.(?_41697339)_(42466321_?)del	deletion	Common variable immunodeficiency 4 [RCV001305750]	Chr22:41697339..42466321 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_41277754)_(43089957_?)dup	duplication	Immunodeficiency, common variable, 4 [RCV001979926]	Chr22:41277754..43089957 [GRCh37] Chr22:22q13.2	uncertain significance
NC_000022.10:g.(?_35776672)_(42486826_?)dup	duplication	Adenylosuccinate lyase deficiency [RCV003119093]	Chr22:35776672..42486826 [GRCh37] Chr22:22q12.3-13.2	uncertain significance
GRCh37/hg19 22q13.1-13.2(chr22:40545592-42096995)x3	copy number gain	Syndromic craniosynostosis [RCV003481509]	Chr22:40545592..42096995 [GRCh37] Chr22:22q13.1-13.2	likely pathogenic
GRCh37/hg19 22q13.1-13.31(chr22:39044105-45794212)x3	copy number gain	not specified [RCV003986179]	Chr22:39044105..45794212 [GRCh37] Chr22:22q13.1-13.31	pathogenic
GRCh37/hg19 22q13.2(chr22:41591000-42869987)x1	copy number loss	not provided [RCV004442758]	Chr22:41591000..42869987 [GRCh37] Chr22:22q13.2	uncertain significance
NM_001003796.2(SNU13):c.22C>G (p.Pro8Ala)	single nucleotide variant	not specified [RCV004865610]	Chr22:41680346 [GRCh38] Chr22:42076350 [GRCh37] Chr22:22q13.2	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2733
Count of miRNA genes:	728
Interacting mature miRNAs:	838
Transcripts:	ENST00000215956, ENST00000355257, ENST00000401959, ENST00000402458, ENST00000463675, ENST00000469028, ENST00000469522, ENST00000488571
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.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
597286701	GWAS1382775_H	body weight QTL GWAS1382775 (human)		2e-13	body mass (VT:0001259)	body weight (CMO:0000012)	22	41674370	41674371	Human
597207965	GWAS1304039_H	birth weight QTL GWAS1304039 (human)		3e-13	birth weight	neonatal body weight (CMO:0002079)	22	41674370	41674371	Human
597201792	GWAS1297866_H	lean body mass QTL GWAS1297866 (human)		6e-21	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	22	41674370	41674371	Human
597323187	GWAS1419261_H	body surface area QTL GWAS1419261 (human)		8e-17	body surface area		22	41674370	41674371	Human
597229701	GWAS1325775_H	appendicular lean mass QTL GWAS1325775 (human)		5e-24	appendicular lean mass		22	41674370	41674371	Human
597320598	GWAS1416672_H	educational attainment QTL GWAS1416672 (human)		5e-13	educational attainment		22	41674370	41674371	Human

IB1149

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,069,977 - 42,070,240	UniSTS	GRCh37
Build 36	22	40,399,923 - 40,400,186	RGD	NCBI36
Celera	22	25,876,413 - 25,876,676	RGD
Cytogenetic Map	22	q13	UniSTS
HuRef	22	25,035,386 - 25,035,649	UniSTS
TNG Radiation Hybrid Map	22	10157.0	UniSTS
Stanford-G3 RH Map	22	1380.0	UniSTS
GeneMap99-G3 RH Map	22	1380.0	UniSTS

RH15753

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,070,980 - 42,071,097	UniSTS	GRCh37
Build 36	22	40,400,926 - 40,401,043	RGD	NCBI36
Celera	22	25,877,416 - 25,877,533	RGD
Cytogenetic Map	9	p13.3	UniSTS
Cytogenetic Map	22	q13	UniSTS
Cytogenetic Map	15	q22.2	UniSTS
HuRef	22	25,036,389 - 25,036,506	UniSTS

RH47477

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,069,966 - 42,070,099	UniSTS	GRCh37
Build 36	22	40,399,912 - 40,400,045	RGD	NCBI36
Celera	22	25,876,402 - 25,876,535	RGD
Cytogenetic Map	22	q13	UniSTS
HuRef	22	25,035,375 - 25,035,508	UniSTS
GeneMap99-GB4 RH Map	22	127.53	UniSTS

SHGC-7075

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	22	42,082,131 - 42,082,343	UniSTS	GRCh37
Build 36	22	40,412,077 - 40,412,289	RGD	NCBI36
Celera	22	25,888,566 - 25,888,778	RGD
Cytogenetic Map	22	q13	UniSTS
HuRef	22	25,047,537 - 25,047,749	UniSTS
TNG Radiation Hybrid Map	22	13051.0	UniSTS
Stanford-G3 RH Map	22	1367.0	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	4974	1726	2351	6	624	1951	465	2270	7306	6472	53	3734	1	852	1744	1617	175	1


RefSeq Transcripts	NG_051551	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001003796	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_005008	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017028811	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054325659	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AF091076	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF155235	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK124020	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK311800	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC005358	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC019282	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC095439	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BG164621	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BI770951	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CF552526	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471095	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068256	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CQ840914	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR456531	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CR541725	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	D50420	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB021462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	FB353524	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z83840	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000215956 ⟹ ENSP00000215956

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,707 - 41,682,622 (-)	Ensembl

Ensembl Acc Id:

ENST00000401959 ⟹ ENSP00000383949

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,673,933 - 41,688,867 (-)	Ensembl

Ensembl Acc Id:

ENST00000402458 ⟹ ENSP00000383989

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,925 - 41,690,504 (-)	Ensembl

Ensembl Acc Id:

ENST00000463675 ⟹ ENSP00000497047

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,789 - 41,688,804 (-)	Ensembl

Ensembl Acc Id:

ENST00000469028 ⟹ ENSP00000497330

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,675,031 - 41,688,799 (-)	Ensembl

Ensembl Acc Id:

ENST00000469522 ⟹ ENSP00000497320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,687,742 - 41,688,847 (-)	Ensembl

Ensembl Acc Id:

ENST00000488571

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,675,152 - 41,682,456 (-)	Ensembl

Ensembl Acc Id:

ENST00000648161

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,673,934 - 41,676,323 (-)	Ensembl

Ensembl Acc Id:

ENST00000648350 ⟹ ENSP00000498157

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,817 - 41,690,462 (-)	Ensembl

Ensembl Acc Id:

ENST00000648674 ⟹ ENSP00000497142

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,615 - 41,688,895 (-)	Ensembl

Ensembl Acc Id:

ENST00000649479 ⟹ ENSP00000497535

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,674,817 - 41,688,825 (-)	Ensembl

Ensembl Acc Id:

ENST00000649722 ⟹ ENSP00000497306

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	22	41,675,033 - 41,690,504 (-)	Ensembl

RefSeq Acc Id:

NM_001003796 ⟹ NP_001003796

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,673,933 - 41,688,867 (-)	NCBI
GRCh37	22	42,069,937 - 42,085,296 (-)	NCBI
Build 36	22	40,399,883 - 40,414,859 (-)	NCBI Archive
HuRef	22	25,035,346 - 25,050,319 (-)	ENTREZGENE
CHM1_1	22	42,029,949 - 42,044,925 (-)	NCBI
T2T-CHM13v2.0	22	42,152,913 - 42,167,844 (-)	NCBI

Sequence:

show sequence

CGGTGCACGCGAGTGCTTCTGAAACGTCAGCTGCGCTCCCCTAGGAGTGCTGAGCCCGCGGAACCGCAGCCATGACTGAGGCTGATGTGAATCCAAAGGCCTATCCCCTTGCCGATGCCCACCTCACC
AAGAAGCTACTGGACCTCGTTCAGCAGTCATGTAACTATAAGCAGCTTCGGAAAGGAGCCAATGAGGCCACCAAAACCCTCAACAGGGGCATCTCTGAGTTCATCGTGATGGCTGCAGACGCCGAGCC
ACTGGAGATCATTCTGCACCTGCCGCTGCTGTGTGAAGACAAGAATGTGCCCTACGTGTTTGTGCGCTCCAAGCAGGCCCTGGGGAGAGCCTGTGGGGTCTCCAGGCCTGTCATCGCCTGTTCTGTCA
CCATCAAAGAAGGCTCGCAGCTGAAACAGCAGATCCAATCCATTCAGCAGTCCATTGAAAGGCTCTTAGTCTAAACCTGTGGCCTCTGCCACGTGCTCCCTGCCAGCTTCCCCCCTGAGGTTGTGTAT
CATATTATCTGTGTTAGCATGTAGTATTTTCAGCTACTCTCTATTGTTATAAAATGTAGTACTAAATCTGGTTTCTGGATTTTTGTGTTGTTTTTGTTCTGTTTTACAGGGTTGCTATCCCCCTTCCT
TTCCTCCCTCCCTCTGCCATCCTTCATCCTTTTATCCTCCCTTTTTGGAACAAGTGTTCAGAGCAGACAGAAGCAGGGTGGTGGCACCGTTGAAAGGCAGAAAGAGCCAGGAGAAAGCTGATGGAGCC
AGGACAGAGATCTGGTTCCAGCTTTCAGCCACTAGCTTCCTGTTGTGTGCGGGGTGTGGTGGAATTAAACAGCATTCATTGTGTGTCCCTGTGCCTGGCACACAGAATCATTCATACGTGTTCAAGTG
ATCAAGGGGTTTCATTTGCTCTTGGGGGATTAGGTATCATTTGGGGAGGAAGCATGTGTTCTGTGAGGTTGTTCGGCTATGTCCAAGTGTCGTTTACTAATGTACCCCTGCTGTTTGCTTTTGGTAAT
GTGATGTTGATGTTCTCCCCCTACCCACAACCATGCCCTTGAGGGTAGCAGGGCAGCAGCATACCAAAGAGATGTGCTGCAGGACTCCGGAGGCAGCCTGGGTGGGTGAGCCATGGGGCAGTTGACCT
GGGTCTTGAAAGAGTCGGGAGTGACAAGCTCAGAGAGCATGAACTGATGCTGGCATGAAGGATTCCAGGAAGATCATGGAGACCTGGCTGGTAGCTGTAACAGAGATGGTGGAGTCCAAGGAAACAGC
CTGTCTCTGGTGAATGGGACTTTCTTTGGTGGACACTTGGCACCAGCTCTGAGAGCCCTTCCCCTGTGTCCTGCCACCATGTGGGTCAGATGTACTCTCTGTCACATGAGGAGAGTGCTAGTTCATGT
GTTCTCCATTCTTGTGAGCATCCTAATAAATCTGTTCCATTTTGATGACA

hide sequence

RefSeq Acc Id:

NM_005008 ⟹ NP_004999

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,673,933 - 41,688,867 (-)	NCBI
GRCh37	22	42,069,937 - 42,085,296 (-)	NCBI
Build 36	22	40,399,883 - 40,408,502 (-)	NCBI Archive
HuRef	22	25,035,346 - 25,050,319 (-)	ENTREZGENE
CHM1_1	22	42,029,949 - 42,044,925 (-)	NCBI
T2T-CHM13v2.0	22	42,152,913 - 42,167,844 (-)	NCBI

Sequence:

show sequence

CGGTGCACGCGAGTGCTTCTGAAACGTCAGCTGCGCTCCCCTAGGAGTGCTGAGCCCGCGGAAC
CGCAGCCATGTTGTCCTGGGACCAAGACAAATTCGCCTAAGATAAGGAGTTACGTAGAAGACAGGGCGTCCTGGTGTACGGGCTGGCCCTGGACGTCACTTCCGCTGGCGGCAGTGGCGTCACTTCCT
GCTCTTGGGGGCGGGGCATCCGTGTCCTTGCGGTGCTGGGCAGCAGACCGTCCAAACCGACACGCGTGGTATCCTCGCGGTGTCCGGCAAGAGACTACCAAGACAGACGCTATGACTGAGGCTGATGT
GAATCCAAAGGCCTATCCCCTTGCCGATGCCCACCTCACCAAGAAGCTACTGGACCTCGTTCAGCAGTCATGTAACTATAAGCAGCTTCGGAAAGGAGCCAATGAGGCCACCAAAACCCTCAACAGGG
GCATCTCTGAGTTCATCGTGATGGCTGCAGACGCCGAGCCACTGGAGATCATTCTGCACCTGCCGCTGCTGTGTGAAGACAAGAATGTGCCCTACGTGTTTGTGCGCTCCAAGCAGGCCCTGGGGAGA
GCCTGTGGGGTCTCCAGGCCTGTCATCGCCTGTTCTGTCACCATCAAAGAAGGCTCGCAGCTGAAACAGCAGATCCAATCCATTCAGCAGTCCATTGAAAGGCTCTTAGTCTAAACCTGTGGCCTCTG
CCACGTGCTCCCTGCCAGCTTCCCCCCTGAGGTTGTGTATCATATTATCTGTGTTAGCATGTAGTATTTTCAGCTACTCTCTATTGTTATAAAATGTAGTACTAAATCTGGTTTCTGGATTTTTGTGT
TGTTTTTGTTCTGTTTTACAGGGTTGCTATCCCCCTTCCTTTCCTCCCTCCCTCTGCCATCCTTCATCCTTTTATCCTCCCTTTTTGGAACAAGTGTTCAGAGCAGACAGAAGCAGGGTGGTGGCACC
GTTGAAAGGCAGAAAGAGCCAGGAGAAAGCTGATGGAGCCAGGACAGAGATCTGGTTCCAGCTTTCAGCCACTAGCTTCCTGTTGTGTGCGGGGTGTGGTGGAATTAAACAGCATTCATTGTGTGTCC
CTGTGCCTGGCACACAGAATCATTCATACGTGTTCAAGTGATCAAGGGGTTTCATTTGCTCTTGGGGGATTAGGTATCATTTGGGGAGGAAGCATGTGTTCTGTGAGGTTGTTCGGCTATGTCCAAGT
GTCGTTTACTAATGTACCCCTGCTGTTTGCTTTTGGTAATGTGATGTTGATGTTCTCCCCCTACCCACAACCATGCCCTTGAGGGTAGCAGGGCAGCAGCATACCAAAGAGATGTGCTGCAGGACTCC
GGAGGCAGCCTGGGTGGGTGAGCCATGGGGCAGTTGACCTGGGTCTTGAAAGAGTCGGGAGTGACAAGCTCAGAGAGCATGAACTGATGCTGGCATGAAGGATTCCAGGAAGATCATGGAGACCTGGC
TGGTAGCTGTAACAGAGATGGTGGAGTCCAAGGAAACAGCCTGTCTCTGGTGAATGGGACTTTCTTTGGTGGACACTTGGCACCAGCTCTGAGAGCCCTTCCCCTGTGTCCTGCCACCATGTGGGTCA
GATGTACTCTCTGTCACATGAGGAGAGTGCTAGTTCATGTGTTCTCCATTCTTGTGAGCATCCTAATAAATCTGTTCCATTTTGATGACA

hide sequence

RefSeq Acc Id:

XM_017028811 ⟹ XP_016884300

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,687,718 - 41,690,480 (-)	NCBI

Sequence:

show sequence

TGCCCCAGCCTCAACTCTGACCCTGGTGCCAGGCCTGGTTAGCATGCTCTTGGTGCAGGGCCAGTTTCCGCGCCAGTGCCCCCGTAGAGGGCGGGGCCCACTCGCTCGCGTAGCGTCACCTTCGCTTC
CTGCCGCGCGGGGCCATTTCCGCTGCTGCTTCTGTGAGTTTTTCCGGTGCACGCGAGTGCTTCTGAAACGTCAGCTGCGCTCCCCTAGGAGTGCTGAGCCCGCGGAACCGCAGCCATGGAGGAGATCT
CCCATGGGTCTGCGCTTAGTGCCCGCCGCGAGTCACACGCGCCAGGGACCTAGAGGAGCCTTTGGCATTTGGGGGCTGTGGGGAACATGAAGTGAGCGCGACTCACGGCCTGGAGTGCAGGAAAGGCT
TCTCCTGCAAGGCGGTGGCTTCAAAAACCAGAAGTCTGGTAGCACCACGTGCGGCGTCTCTAAACTCTTGGTCGTCTCTGACTTTTAAACATCTAGGGAAAGTTCTAAAACGTGTGTCCTGGCGTAGT
AGTTTTGGTTGGCACTTGGTGAGGAGGGAAGAATTTGTAAAGCACTGTAACTTCTATAGTTAATCCTTCCAGTGGAGCTTGGATCCCGGCGGTAGCACTCCCCACAAACCTCCTCCCATGCATTTTGA
AGCTTAGTACGTGGCTGAGCCTAGAACTTGAAGCTTCCAAACTCAGTGCTCGCTTTAACGCAGCTCCCTGAAACGTTTTGGAATCGGATGGTCTCAGGTTGAACTTTGCAGTTTTCCTCAACTGTAAA
ATGGGGATGACAGTGCATGAGGGTGTTGTGAGGATCAAATGAAATAAAGCATGGTAAACATCTAGTCCTGATGCTTGGTACAGAGTAAGCACGCAGTATTTGTTGTTCAATCAAAACCTTGCAAGTTT
TGGCTGTCTGGTGTACAGCGAAACCAAACTGATCATGCTAGGTAGGGATTTAGGTTGGCTGGTGGTATGATATCATTCGTTAATTTATTTAACCCCTGAAGAAATTGAAAGGCAAATAAATACACCCT
AAGCAAGTTTCAA

hide sequence

RefSeq Acc Id:

XM_054325659 ⟹ XP_054181634

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	22	42,166,514 - 42,169,470 (-)	NCBI


Protein RefSeqs	NP_001003796	(Get FASTA)	NCBI Sequence Viewer
	NP_004999	(Get FASTA)	NCBI Sequence Viewer
	XP_016884300	(Get FASTA)	NCBI Sequence Viewer
	XP_054181634	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC72945	(Get FASTA)	NCBI Sequence Viewer
	AAF06959	(Get FASTA)	NCBI Sequence Viewer
	AAH05358	(Get FASTA)	NCBI Sequence Viewer
	AAH19282	(Get FASTA)	NCBI Sequence Viewer
	AAH95439	(Get FASTA)	NCBI Sequence Viewer
	BAA23363	(Get FASTA)	NCBI Sequence Viewer
	BAG34743	(Get FASTA)	NCBI Sequence Viewer
	CAG30417	(Get FASTA)	NCBI Sequence Viewer
	CAG46526	(Get FASTA)	NCBI Sequence Viewer
	CAH05699	(Get FASTA)	NCBI Sequence Viewer
	CAR82348	(Get FASTA)	NCBI Sequence Viewer
	EAW60450	(Get FASTA)	NCBI Sequence Viewer
	EAW60451	(Get FASTA)	NCBI Sequence Viewer
	EAW60452	(Get FASTA)	NCBI Sequence Viewer
	EAW60453	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000215956.5
	ENSP00000383949
	ENSP00000383949.1
	ENSP00000497142
	ENSP00000497142.1
GenBank Protein	P55769	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_001003796 ⟸ NM_001003796
- UniProtKB:	P55769 (UniProtKB/Swiss-Prot), Q6FHM6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTEADVNPKAYPLADAHLTKKLLDLVQQSCNYKQLRKGANEATKTLNRGISEFIVMAADAEPLEIILHLPLLCEDKNVPYVFVRSKQALGRACGVSRPVIACSVTIKEGSQLKQQIQSIQQSIERLLV hide sequence

RefSeq Acc Id:	NP_004999 ⟸ NM_005008
- UniProtKB:	P55769 (UniProtKB/Swiss-Prot), Q6FHM6 (UniProtKB/TrEMBL)
- Sequence:	show sequence MTEADVNPKAYPLADAHLTKKLLDLVQQSCNYKQLRKGANEATKTLNRGISEFIVMAADAEPLEIILHLPLLCEDKNVPYVFVRSKQALGRACGVSRPVIACSVTIKEGSQLKQQIQSIQQSIERLLV hide sequence

RefSeq Acc Id:	XP_016884300 ⟸ XM_017028811
- Peptide Label:	isoform X1
- Sequence:	show sequence MLLVQGQFPRQCPRRGRGPLARVASPSLPAARGHFRCCFCEFFRCTRVLLKRQLRSPRSAEPAEPQPWRRSPMGLRLVPAASHTRQGPRGAFGIWGLWGT hide sequence

Ensembl Acc Id:

ENSP00000497142 ⟸ ENST00000648674

Ensembl Acc Id:

ENSP00000498157 ⟸ ENST00000648350

Protein Domains

Ribosomal protein eL8/eL30/eS12/Gadd45

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-P55769-F1-model_v2	AlphaFold	P55769	1-128	view protein structure

RGD ID:

6800177

Promoter ID:

HG_KWN:43003

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:

OTTHUMT00000321683, OTTHUMT00000321685

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,408,134 - 40,408,634 (-)	MPROMDB

RGD ID:

6799791

Promoter ID:

HG_KWN:43004

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

OTTHUMT00000321679, OTTHUMT00000321681, OTTHUMT00000321684, OTTHUMT00000321905, OTTHUMT00000321906, UC003BAW.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,414,126 - 40,414,912 (+)	MPROMDB

RGD ID:

6799731

Promoter ID:

HG_KWN:43006

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

Lymphoblastoid

Transcripts:

ENST00000356843, ENST00000402458, NM_001142964

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	22	40,416,016 - 40,416,516 (+)	MPROMDB

RGD ID:

13604274

Promoter ID:

EPDNEW_H28321

Type:

initiation region

Name:

SNU13_1

Description:

small nuclear ribonucleoprotein 13

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	22	41,682,452 - 41,682,512	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SNU13	COSMIC
Ensembl Genes	ENSG00000100138	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000215956.10	UniProtKB/Swiss-Prot
	ENST00000401959	ENTREZGENE
	ENST00000401959.6	UniProtKB/Swiss-Prot
	ENST00000648674	ENTREZGENE
	ENST00000648674.1	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.1330.30	UniProtKB/Swiss-Prot
GTEx	ENSG00000100138	GTEx
HGNC ID	HGNC:7819	ENTREZGENE
Human Proteome Map	SNU13	Human Proteome Map
InterPro	eL8_RNA-proc_assembly	UniProtKB/Swiss-Prot
	H/ACA_rnp_Nhp2_euk	UniProtKB/Swiss-Prot
	L30e-like	UniProtKB/Swiss-Prot
	Ribosomal_L7Ae/L30e/S12e/Gad45	UniProtKB/Swiss-Prot
	Ribosomal_L7Ae/L8/Nhp2	UniProtKB/Swiss-Prot
	Ribosomal_L7Ae_CS	UniProtKB/Swiss-Prot
KEGG Report	hsa:4809	UniProtKB/Swiss-Prot
NCBI Gene	4809	ENTREZGENE
OMIM	601304	OMIM
PANTHER	RIBOSOMAL PROTEIN L7AE FAMILY MEMBER	UniProtKB/Swiss-Prot
Pfam	Ribosomal_L7Ae	UniProtKB/Swiss-Prot
PharmGKB	PA31621	PharmGKB
PRINTS	L7ARS6FAMILY	UniProtKB/Swiss-Prot
	NUCLEARHMG	UniProtKB/Swiss-Prot
PROSITE	RIBOSOMAL_L7AE	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF55315	UniProtKB/Swiss-Prot
UniProt	A0A3B3IRU2_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISH1_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISH9_HUMAN	UniProtKB/TrEMBL
	A0A3B3ISK4_HUMAN	UniProtKB/TrEMBL
	A0A3B3IUA2_HUMAN	UniProtKB/TrEMBL
	B1AHD1_HUMAN	UniProtKB/TrEMBL
	NH2L1_HUMAN	UniProtKB/Swiss-Prot, ENTREZGENE
	Q6FHM6	ENTREZGENE, UniProtKB/TrEMBL

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2017-03-21	SNU13	small nuclear ribonucleoprotein 13		SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)	Symbol and/or name change	5135510	APPROVED
2016-03-08	SNU13	SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)	SSFA1	sperm specific antigen 1	Data merged from RGD:1349474	737654	PROVISIONAL
2015-07-14	SNU13	SNU13 homolog, small nuclear ribonucleoprotein (U4/U6.U5)	NHP2L1	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	Symbol and/or name change	5135510	APPROVED

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


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


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

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Imported Disease Annotations - ClinVar

RGD Manual Annotations

Imported Annotations - KEGG (archival)