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Gene: SLBP (stem-loop histone mRNA binding protein) Homo sapiens

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Symbol:

SLBP

Name:

stem-loop histone mRNA binding protein

RGD ID:

1350910

HGNC Page

HGNC:10904

Description:

Enables identical protein binding activity and mRNA binding activity. Involved in cap-dependent translational initiation and mRNA transport. Located in cytosol; nucleolus; and nucleoplasm. Part of histone mRNA stem-loop binding activity complex.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

hairpin binding protein, histone; HBP; histone binding protein; histone RNA hairpin-binding protein; histone stem-loop binding protein; histone stem-loop-binding protein; stem-loop (histone) binding protein; stem-loop binding protein

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):	Slbp (stem-loop binding protein)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, PhylomeDB, Treefam
Rattus norvegicus (Norway rat):	Slbp (stem-loop histone mRNA binding protein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther
Chinchilla lanigera (long-tailed chinchilla):	Slbp (stem-loop histone mRNA binding protein)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	SLBP (stem-loop histone mRNA binding protein)	NCBI	Ortholog
Canis lupus familiaris (dog):	SLBP (stem-loop histone mRNA binding protein)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Slbp (stem-loop histone mRNA binding protein)	NCBI	Ortholog
Sus scrofa (pig):	SLBP (stem-loop histone mRNA binding protein)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	SLBP (stem-loop histone mRNA binding protein)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Slbp (stem-loop histone mRNA binding protein)	NCBI	Ortholog
Other homologs ²
Sus scrofa (pig):	TMEM129 (transmembrane protein 129, E3 ubiquitin ligase)	HGNC	OrthoDB
Rattus norvegicus (Norway rat):	Crtc1 (CREB regulated transcription coactivator 1)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Slbp (stem-loop histone mRNA binding protein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Slbp (stem-loop binding protein)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	slbp (stem-loop binding protein)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	cdl-1	Alliance	DIOPT (Ensembl Compara\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Slbp	Alliance	DIOPT (Ensembl Compara\|InParanoid\|OrthoFinder\|OrthoInspector\|PANTHER\|SonicParanoid)
Xenopus laevis (African clawed frog):	slbp.L	Alliance	DIOPT (Xenbase)
Xenopus tropicalis (tropical clawed frog):	slbp	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	slbp.S	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

LOC100420060

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	4	1,692,731 - 1,712,319 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	1,692,731 - 1,712,344 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	1,694,458 - 1,714,046 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	1,664,325 - 1,683,828 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	1,661,757 - 1,681,261	NCBI
Celera	4	1,605,626 - 1,625,082 (-)	NCBI		Celera
Cytogenetic Map	4	p16.3	NCBI
HuRef	4	1,637,465 - 1,656,925 (-)	NCBI		HuRef
CHM1_1	4	1,692,305 - 1,711,989 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	1,690,606 - 1,710,149 (-)	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)
SLBP	Human	cherubism		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Fibrous dysplasia of jaw	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLBP	Human	coloboma		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:30695021
SLBP	Human	optic atrophy		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:30695021
SLBP	Human	Retinal Dysplasia		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:30695021

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SLBP	Human	(S)-colchicine	decreases expression	EXP		6480464	Colchicine results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	(S)-nicotine	multiple interactions	EXP		6480464	2-dimethylamino-4 more ...	CTD	PMID:35929799
SLBP	Human	(S)-nicotine	decreases expression	ISO	Slbp (Mus musculus)	6480464	Nicotine results in decreased expression of SLBP protein	CTD	PMID:35929799
SLBP	Human	(S)-nicotine	decreases expression	EXP		6480464	Nicotine results in decreased expression of SLBP mRNA and Nicotine results in decreased expression of SLBP protein	CTD	PMID:35929799
SLBP	Human	1,2-dichloroethane	decreases expression	ISO	Slbp (Mus musculus)	6480464	ethylene dichloride results in decreased expression of SLBP mRNA	CTD	PMID:28960355
SLBP	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SLBP mRNA	CTD	PMID:22206623
SLBP	Human	17alpha-ethynylestradiol	affects expression	ISO	Slbp (Mus musculus)	6480464	Ethinyl Estradiol affects the expression of SLBP mRNA	CTD	PMID:17555576
SLBP	Human	17alpha-ethynylestradiol	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SLBP mRNA	CTD	PMID:17942748
SLBP	Human	17alpha-ethynylestradiol	increases expression	ISO	Slbp (Mus musculus)	6480464	Ethinyl Estradiol results in increased expression of SLBP mRNA	CTD	PMID:17942748
SLBP	Human	17beta-estradiol	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Estradiol results in increased expression of SLBP mRNA	CTD	PMID:32145629
SLBP	Human	2,2',4,4'-Tetrabromodiphenyl ether	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	2 more ...	CTD	PMID:27291303
SLBP	Human	2,3,7,8-tetrachlorodibenzodioxine	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SLBP mRNA	CTD	PMID:17942748
SLBP	Human	2,3,7,8-tetrachlorodibenzodioxine	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in decreased expression of SLBP mRNA	CTD	PMID:33387578
SLBP	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of SLBP mRNA	CTD	PMID:34747641
SLBP	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	EXP		6480464	Tetrachlorodibenzodioxin affects the expression of SLBP mRNA	CTD	PMID:22574217
SLBP	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Slbp (Mus musculus)	6480464	Tetrachlorodibenzodioxin results in increased expression of SLBP mRNA	CTD	PMID:17942748
SLBP	Human	3H-1,2-dithiole-3-thione	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	1 and 2-dithiol-3-thione results in decreased expression of SLBP mRNA	CTD	PMID:19162173
SLBP	Human	4-hydroxyphenyl retinamide	increases expression	ISO	Slbp (Mus musculus)	6480464	Fenretinide results in increased expression of SLBP mRNA	CTD	PMID:28973697
SLBP	Human	5-azacytidine	multiple interactions	EXP		6480464	Azacitidine inhibits the reaction [sodium arsenite results in decreased expression of SLBP mRNA]	CTD	PMID:25266719
SLBP	Human	6-propyl-2-thiouracil	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Propylthiouracil results in increased expression of SLBP mRNA	CTD	PMID:24780913
SLBP	Human	6-propyl-2-thiouracil	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Propylthiouracil results in decreased expression of SLBP mRNA	CTD	PMID:30047161
SLBP	Human	acrylamide	increases expression	EXP		6480464	Acrylamide results in increased expression of SLBP mRNA	CTD	PMID:32763439
SLBP	Human	adenine	decreases expression	EXP		6480464	Adenine results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	aflatoxin B1	increases expression	EXP		6480464	Aflatoxin B1 results in increased expression of SLBP mRNA	CTD	PMID:22100608 and PMID:27153756
SLBP	Human	amitrole	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Amitrole results in decreased expression of SLBP mRNA	CTD	PMID:30047161 and PMID:38685447
SLBP	Human	amphetamine	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Amphetamine results in increased expression of SLBP mRNA	CTD	PMID:30779732
SLBP	Human	Aroclor 1254	decreases expression	ISO	Slbp (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of SLBP mRNA	CTD	PMID:23650126
SLBP	Human	azathioprine	decreases expression	EXP		6480464	Azathioprine results in decreased expression of SLBP mRNA	CTD	PMID:22623647
SLBP	Human	benzo[a]pyrene	decreases expression	ISO	Slbp (Mus musculus)	6480464	Benzo(a)pyrene results in decreased expression of SLBP mRNA	CTD	PMID:17942131
SLBP	Human	benzo[a]pyrene	increases expression	EXP		6480464	Benzo(a)pyrene results in increased expression of SLBP mRNA	CTD	PMID:32234424
SLBP	Human	benzo[a]pyrene	increases methylation	ISO	Slbp (Mus musculus)	6480464	Benzo(a)pyrene results in increased methylation of SLBP exon and Benzo(a)pyrene results in increased methylation of SLBP intron	CTD	PMID:27901495
SLBP	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of SLBP mRNA	CTD	PMID:21632981
SLBP	Human	benzo[a]pyrene	increases expression	ISO	Slbp (Mus musculus)	6480464	Benzo(a)pyrene results in increased expression of SLBP mRNA	CTD	PMID:20504355
SLBP	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:20382639
SLBP	Human	benzo[e]pyrene	decreases methylation	EXP		6480464	benzo(e)pyrene results in decreased methylation of SLBP intron	CTD	PMID:30157460
SLBP	Human	bis(2-ethylhexyl) phthalate	increases expression	ISO	Slbp (Mus musculus)	6480464	Diethylhexyl Phthalate results in increased expression of SLBP mRNA	CTD	PMID:33754040
SLBP	Human	bisphenol A	affects expression	ISO	Slbp (Rattus norvegicus)	6480464	bisphenol A affects the expression of SLBP mRNA	CTD	PMID:25181051
SLBP	Human	bisphenol A	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	bisphenol A results in increased expression of SLBP mRNA	CTD	PMID:32145629
SLBP	Human	bisphenol A	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	bisphenol A results in decreased expression of SLBP mRNA	CTD	PMID:30816183 more ...
SLBP	Human	butyric acid	multiple interactions	EXP		6480464	Butyric Acid inhibits the reaction [sodium arsenite results in decreased expression of SLBP mRNA]	CTD	PMID:25266719
SLBP	Human	carbon nanotube	increases expression	ISO	Slbp (Mus musculus)	6480464	Nanotubes more ...	CTD	PMID:25554681
SLBP	Human	chloroprene	decreases expression	ISO	Slbp (Mus musculus)	6480464	Chloroprene results in decreased expression of SLBP mRNA	CTD	PMID:23125180
SLBP	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	cisplatin	increases expression	EXP		6480464	Cisplatin results in increased expression of SLBP mRNA	CTD	PMID:27594783
SLBP	Human	corosolic acid	decreases expression	EXP		6480464	corosolic acid results in decreased expression of SLBP mRNA	CTD	PMID:37939859
SLBP	Human	coumarin	decreases phosphorylation	EXP		6480464	coumarin results in decreased phosphorylation of SLBP protein	CTD	PMID:35688186
SLBP	Human	coumestrol	increases expression	EXP		6480464	Coumestrol results in increased expression of SLBP mRNA	CTD	PMID:19167446
SLBP	Human	coumestrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2 more ...	CTD	PMID:19167446
SLBP	Human	Cuprizon	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Cuprizone results in increased expression of SLBP mRNA	CTD	PMID:26577399
SLBP	Human	cyclosporin A	decreases expression	ISO	Slbp (Mus musculus)	6480464	Cyclosporine results in decreased expression of SLBP mRNA	CTD	PMID:17942131
SLBP	Human	cyclosporin A	affects expression	EXP		6480464	Cyclosporine affects the expression of SLBP mRNA	CTD	PMID:25562108
SLBP	Human	cyclosporin A	increases expression	EXP		6480464	Cyclosporine results in increased expression of SLBP mRNA	CTD	PMID:20106945
SLBP	Human	DDE	increases expression	EXP		6480464	Dichlorodiphenyl Dichloroethylene results in increased expression of SLBP mRNA	CTD	PMID:38568856
SLBP	Human	deguelin	increases expression	EXP		6480464	deguelin results in increased expression of SLBP mRNA	CTD	PMID:33512557
SLBP	Human	dibutyl phthalate	decreases expression	ISO	Slbp (Mus musculus)	6480464	Dibutyl Phthalate results in decreased expression of SLBP mRNA	CTD	PMID:17361019 and PMID:21266533
SLBP	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of SLBP mRNA	CTD	PMID:29803840
SLBP	Human	Enterolactone	multiple interactions	EXP		6480464	[Coumestrol co-treated with 2 and 3-bis(3'-hydroxybenzyl)butyrolactone] results in increased expression of SLBP mRNA	CTD	PMID:19167446
SLBP	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of SLBP protein	CTD	PMID:23301498
SLBP	Human	ethyl methanesulfonate	decreases expression	EXP		6480464	Ethyl Methanesulfonate results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	etoposide	decreases expression	EXP		6480464	Etoposide results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	folic acid	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SLBP mRNA	CTD	PMID:22206623
SLBP	Human	FR900359	decreases phosphorylation	EXP		6480464	FR900359 results in decreased phosphorylation of SLBP protein	CTD	PMID:37730182
SLBP	Human	fulvestrant	decreases methylation	EXP		6480464	Fulvestrant results in decreased methylation of SLBP gene	CTD	PMID:31601247
SLBP	Human	gentamycin	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Gentamicins results in decreased expression of SLBP mRNA	CTD	PMID:33387578
SLBP	Human	hydrogen peroxide	affects expression	EXP		6480464	Hydrogen Peroxide affects the expression of SLBP mRNA	CTD	PMID:21179406
SLBP	Human	hydroxyurea	decreases expression	EXP		6480464	Hydroxyurea results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	manganese atom	multiple interactions	EXP		6480464	[manganese chloride results in increased abundance of Manganese] which results in decreased expression of SLBP mRNA	CTD	PMID:39836092
SLBP	Human	manganese(0)	multiple interactions	EXP		6480464	[manganese chloride results in increased abundance of Manganese] which results in decreased expression of SLBP mRNA	CTD	PMID:39836092
SLBP	Human	manganese(II) chloride	multiple interactions	EXP		6480464	[manganese chloride results in increased abundance of Manganese] which results in decreased expression of SLBP mRNA	CTD	PMID:39836092
SLBP	Human	menadione	affects expression	EXP		6480464	Vitamin K 3 affects the expression of SLBP mRNA	CTD	PMID:20044591
SLBP	Human	methapyrilene	decreases methylation	EXP		6480464	Methapyrilene results in decreased methylation of SLBP intron	CTD	PMID:30157460
SLBP	Human	methapyrilene	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Methapyrilene results in increased expression of SLBP mRNA	CTD	PMID:30467583
SLBP	Human	methimazole	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Methimazole results in decreased expression of SLBP mRNA	CTD	PMID:30047161 and PMID:38685447
SLBP	Human	methyl methanesulfonate	decreases expression	EXP		6480464	Methyl Methanesulfonate results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	mitomycin C	decreases expression	EXP		6480464	Mitomycin results in decreased expression of SLBP mRNA	CTD	PMID:24211769
SLBP	Human	N-benzyloxycarbonyl-L-leucyl-L-leucyl-L-leucinal	multiple interactions	EXP		6480464	benzyloxycarbonylleucyl-leucyl-leucine aldehyde inhibits the reaction [sodium arsenite results in decreased expression of SLBP protein]	CTD	PMID:25266719
SLBP	Human	nicotine	multiple interactions	EXP		6480464	2-dimethylamino-4 more ...	CTD	PMID:35929799
SLBP	Human	nicotine	decreases expression	ISO	Slbp (Mus musculus)	6480464	Nicotine results in decreased expression of SLBP protein	CTD	PMID:35929799
SLBP	Human	nicotine	decreases expression	EXP		6480464	Nicotine results in decreased expression of SLBP mRNA and Nicotine results in decreased expression of SLBP protein	CTD	PMID:35929799
SLBP	Human	oxaliplatin	multiple interactions	ISO	Slbp (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of SLBP mRNA	CTD	PMID:25729387
SLBP	Human	oxaliplatin	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	oxaliplatin results in decreased expression of SLBP mRNA	CTD	PMID:25729387
SLBP	Human	ozone	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[Air Pollutants results in increased abundance of [Ozone co-treated with Soot]] which results in increased expression of SLBP mRNA	CTD	PMID:34911549
SLBP	Human	paracetamol	affects expression	ISO	Slbp (Mus musculus)	6480464	Acetaminophen affects the expression of SLBP mRNA	CTD	PMID:17562736
SLBP	Human	paracetamol	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of SLBP mRNA	CTD	PMID:33387578
SLBP	Human	paracetamol	increases expression	EXP		6480464	Acetaminophen results in increased expression of SLBP mRNA	CTD	PMID:21420995
SLBP	Human	paracetamol	decreases expression	ISO	Slbp (Mus musculus)	6480464	Acetaminophen results in decreased expression of SLBP mRNA	CTD	PMID:17942131
SLBP	Human	perfluorooctanoic acid	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	perfluorooctanoic acid results in increased expression of SLBP mRNA	CTD	PMID:19162173
SLBP	Human	picoxystrobin	increases expression	EXP		6480464	picoxystrobin results in increased expression of SLBP mRNA	CTD	PMID:33512557
SLBP	Human	pirinixic acid	multiple interactions	ISO	Slbp (Mus musculus)	6480464	[pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of SLBP mRNA	CTD	PMID:19710929
SLBP	Human	pregnenolone 16alpha-carbonitrile	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Pregnenolone Carbonitrile results in decreased expression of SLBP mRNA	CTD	PMID:30047161
SLBP	Human	pyrogallol	increases expression	ISO	Slbp (Mus musculus)	6480464	Pyrogallol results in increased expression of SLBP mRNA	CTD	PMID:20362636
SLBP	Human	resveratrol	multiple interactions	EXP		6480464	[Coumestrol co-treated with resveratrol] results in increased expression of SLBP mRNA	CTD	PMID:19167446
SLBP	Human	resveratrol	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	resveratrol results in decreased expression of SLBP mRNA	CTD	PMID:25905778
SLBP	Human	rotenone	increases expression	EXP		6480464	Rotenone results in increased expression of SLBP mRNA	CTD	PMID:33512557
SLBP	Human	sodium arsenite	increases expression	EXP		6480464	sodium arsenite results in increased expression of SLBP mRNA	CTD	PMID:28595984 and PMID:34032870
SLBP	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of SLBP mRNA and sodium arsenite results in decreased expression of SLBP protein	CTD	PMID:25266719 and PMID:38568856
SLBP	Human	sodium arsenite	multiple interactions	EXP		6480464	Azacitidine inhibits the reaction [sodium arsenite results in decreased expression of SLBP mRNA] more ...	CTD	PMID:25266719
SLBP	Human	sulfadimethoxine	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Sulfadimethoxine results in decreased expression of SLBP mRNA	CTD	PMID:30047161
SLBP	Human	tamoxifen	affects expression	ISO	Slbp (Mus musculus)	6480464	Tamoxifen affects the expression of SLBP mRNA	CTD	PMID:17555576
SLBP	Human	testosterone	decreases expression	EXP		6480464	Testosterone results in decreased expression of SLBP mRNA	CTD	PMID:33359661
SLBP	Human	tetrachloromethane	increases expression	ISO	Slbp (Mus musculus)	6480464	Carbon Tetrachloride results in increased expression of SLBP mRNA	CTD	PMID:31919559
SLBP	Human	thioacetamide	increases expression	ISO	Slbp (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of SLBP mRNA	CTD	PMID:34492290
SLBP	Human	titanium dioxide	increases methylation	ISO	Slbp (Mus musculus)	6480464	titanium dioxide results in increased methylation of SLBP promoter	CTD	PMID:35295148
SLBP	Human	topotecan	multiple interactions	ISO	Slbp (Rattus norvegicus)	6480464	[oxaliplatin co-treated with Topotecan] results in decreased expression of SLBP mRNA	CTD	PMID:25729387
SLBP	Human	topotecan	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	Topotecan results in decreased expression of SLBP mRNA	CTD	PMID:25729387
SLBP	Human	triadimefon	decreases expression	ISO	Slbp (Rattus norvegicus)	6480464	triadimefon results in decreased expression of SLBP mRNA	CTD	PMID:30047161
SLBP	Human	Tributyltin oxide	decreases expression	ISO	Slbp (Mus musculus)	6480464	bis(tri-n-butyltin)oxide results in decreased expression of SLBP mRNA	CTD	PMID:17942131
SLBP	Human	trimellitic anhydride	increases expression	ISO	Slbp (Mus musculus)	6480464	trimellitic anhydride results in increased expression of SLBP mRNA	CTD	PMID:19042947
SLBP	Human	triphenyl phosphate	affects expression	EXP		6480464	triphenyl phosphate affects the expression of SLBP mRNA	CTD	PMID:37042841
SLBP	Human	troglitazone	decreases expression	EXP		6480464	troglitazone results in decreased expression of SLBP mRNA	CTD	PMID:19140230

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)
SLBP	Human	cap-dependent translational initiation	involved_in	IDA		150520179	PMID:18025107	ComplexPortal	PMID:18025107
SLBP	Human	mRNA 3'-end processing by stem-loop binding and cleavage	involved_in	ISS	UniProtKB:P97440	150520179		UniProt	GO_REF:0000024
SLBP	Human	mRNA 3'-end processing by stem-loop binding and cleavage	involved_in	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	mRNA 3'-end processing by stem-loop binding and cleavage	involved_in	IBA	FB:FBgn0041186 more ...	150520179		GO_Central	GO_REF:0000033
SLBP	Human	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
SLBP	Human	mRNA transport	involved_in	IDA		150520179	PMID:19155325	UniProt	PMID:19155325
SLBP	Human	mRNA transport	involved_in	IBA	PANTHER:PTN000425771 and UniProtKB:Q14493	150520179		GO_Central	GO_REF:0000033

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)
SLBP	Human	cytoplasm	located_in	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	cytoplasm	is_active_in	IBA	FB:FBgn0041186 more ...	150520179		GO_Central	GO_REF:0000033
SLBP	Human	cytoplasm	located_in	NAS		150520179	PMID:23286197	ComplexPortal	PMID:23286197
SLBP	Human	cytoplasm	located_in	IDA		150520179	PMID:15829567	UniProt	PMID:15829567
SLBP	Human	cytoplasm	located_in	IEA	UniProtKB-KW:KW-0963	150520179		UniProt	GO_REF:0000043
SLBP	Human	cytoplasm	located_in	IEA	UniProtKB-SubCell:SL-0086	150520179		UniProt	GO_REF:0000044
SLBP	Human	cytosol	located_in	IDA		150520179		HPA	GO_REF:0000052
SLBP	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-159046 and Reactome:R-HSA-159050
SLBP	Human	histone mRNA stem-loop binding complex	part_of	IPI		150520179	PMID:23286197	ComplexPortal	PMID:23286197
SLBP	Human	histone pre-mRNA 3'end processing complex	part_of	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	histone pre-mRNA 3'end processing complex	part_of	IBA	MGI:108402 and PANTHER:PTN000425771	150520179		GO_Central	GO_REF:0000033
SLBP	Human	histone pre-mRNA 3'end processing complex	part_of	ISS	UniProtKB:P27048 and UniProtKB:P97440	150520179		UniProt	GO_REF:0000024
SLBP	Human	nucleolus	located_in	IDA		150520179		HPA	GO_REF:0000052
SLBP	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
SLBP	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-159046 more ...
SLBP	Human	nucleus	located_in	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	nucleus	located_in	IDA		150520179	PMID:15829567	UniProt	PMID:15829567
SLBP	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
SLBP	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
SLBP	Human	ribonucleoprotein complex	part_of	IEA	UniProtKB-KW:KW-0687	150520179		UniProt	GO_REF:0000043
SLBP	Human	ribonucleoprotein complex	part_of	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	ribonucleoprotein complex	part_of	TAS		150520179	PMID:10825184	PINC	PMID:10825184

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)
SLBP	Human	histone pre-mRNA DCP binding	enables	ISS	UniProtKB:P27048	150520179		UniProt	GO_REF:0000024
SLBP	Human	histone pre-mRNA stem-loop binding	enables	IBA	MGI:108402 more ...	150520179		GO_Central	GO_REF:0000033
SLBP	Human	histone pre-mRNA stem-loop binding	enables	ISS	UniProtKB:P97440	150520179		UniProt	GO_REF:0000024
SLBP	Human	histone pre-mRNA stem-loop binding	enables	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	identical protein binding	enables	IPI	UniProtKB:Q14493	150520179	PMID:23286197	IntAct	PMID:23286197
SLBP	Human	mRNA binding	enables	IEA	InterPro:IPR026502	150520179		InterPro	GO_REF:0000002
SLBP	Human	mRNA binding	enables	IBA	FB:FBgn0041186 more ...	150520179		GO_Central	GO_REF:0000033
SLBP	Human	mRNA binding	enables	IDA		150520179	PMID:16912046	UniProt	PMID:16912046
SLBP	Human	mRNA binding	enables	IEA	UniProtKB:P97440 and ensembl:ENSMUSP00000062930	150520179		Ensembl	GO_REF:0000107
SLBP	Human	protein binding	enables	IPI	UniProtKB:Q9Y5L0	150520179	PMID:15829567	UniProt	PMID:15829567
SLBP	Human	protein binding	enables	IPI	UniProtKB:Q8IV48	150520179	PMID:23329046	IntAct	PMID:23329046
SLBP	Human	protein binding	enables	IPI	UniProtKB:A9UHW6	150520179	PMID:23286197 and PMID:23804756	IntAct	PMID:23286197 and PMID:23804756
SLBP	Human	protein binding	enables	IPI	UniProtKB:O15116	150520179	PMID:18172165	UniProt	PMID:18172165
SLBP	Human	protein binding	enables	IPI	UniProtKB:Q92900	150520179	PMID:16086026	IntAct	PMID:16086026
SLBP	Human	RNA binding	enables	HDA		150520179	PMID:22658674	UniProt	PMID:22658674
SLBP	Human	RNA binding	enables	IEA	InterPro:IPR029344	150520179		InterPro	GO_REF:0000002
SLBP	Human	RNA binding	enables	IEA	UniProtKB-KW:KW-0694	150520179		UniProt	GO_REF:0000043

#	Reference Title	Reference Citation
1.	GOAs Human GO annotations	GOA_HUMAN data from the GO Consortium
2.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:1338771	PMID:8652556	PMID:8889548	PMID:8957003	PMID:9049306	PMID:10207079	PMID:10825184	PMID:10982817	PMID:11782445	PMID:12415002	PMID:12477932	PMID:12588979
PMID:14536070	PMID:14702039	PMID:15260483	PMID:15489334	PMID:15546920	PMID:15829567	PMID:15916543	PMID:16086026	PMID:16344560	PMID:16492733	PMID:16912046	PMID:16931877
PMID:16982637	PMID:17081983	PMID:17499042	PMID:18025107	PMID:18172165	PMID:18490441	PMID:19155325	PMID:20348956	PMID:20881960	PMID:21873635	PMID:22094256	PMID:22328085
PMID:22439849	PMID:22658674	PMID:22907757	PMID:23234701	PMID:23286197	PMID:23329046	PMID:23804756	PMID:23941746	PMID:24122909	PMID:24255165	PMID:24981860	PMID:25002523
PMID:25266719	PMID:25281560	PMID:25544563	PMID:25893362	PMID:26186194	PMID:26496610	PMID:27203182	PMID:27254819	PMID:27454292	PMID:27773672	PMID:28118078	PMID:28298427
PMID:28306745	PMID:28514442	PMID:29802200	PMID:29845934	PMID:30209976	PMID:31007083	PMID:31839598	PMID:32694731	PMID:32960265	PMID:32989298	PMID:33187986	PMID:33306668
PMID:33742100	PMID:33961781	PMID:34079125	PMID:34189442	PMID:34645975	PMID:35013218	PMID:35944360	PMID:36537216	PMID:37499664	PMID:37689310

SLBP
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	4	1,692,731 - 1,712,319 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	4	1,692,731 - 1,712,344 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	4	1,694,458 - 1,714,046 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	4	1,664,325 - 1,683,828 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	4	1,661,757 - 1,681,261	NCBI
Celera	4	1,605,626 - 1,625,082 (-)	NCBI		Celera
Cytogenetic Map	4	p16.3	NCBI
HuRef	4	1,637,465 - 1,656,925 (-)	NCBI		HuRef
CHM1_1	4	1,692,305 - 1,711,989 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	4	1,690,606 - 1,710,149 (-)	NCBI		T2T-CHM13v2.0

Slbp
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	5	33,797,399 - 33,809,918 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	5	33,792,296 - 33,809,918 (-)	Ensembl		GRCm39 Ensembl
GRCm38	5	33,640,055 - 33,652,574 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	5	33,634,952 - 33,652,574 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	5	33,982,711 - 33,994,955 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	5	33,956,919 - 33,969,163 (-)	NCBI		MGSCv36	mm8
Celera	5	31,116,183 - 31,128,422 (-)	NCBI		Celera
Cytogenetic Map	5	B2	NCBI
cM Map	5	17.83	NCBI

Slbp
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	14	81,295,479 - 81,306,446 (+)	NCBI		GRCr8
mRatBN7.2	14	77,071,441 - 77,081,911 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	14	77,071,632 - 77,081,906 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	14	81,524,007 - 81,534,181 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	14	82,764,607 - 82,774,784 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	14	79,209,907 - 79,220,082 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	14	82,356,916 - 82,366,368 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	14	82,356,916 - 82,366,368 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	14	83,046,030 - 83,056,021 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	14	82,767,415 - 82,778,030 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	14	75,995,251 - 76,005,216 (+)	NCBI		Celera
Cytogenetic Map	14	q21	NCBI

Slbp
(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_004955514	955,296 - 967,327 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955514	954,489 - 968,670 (-)	NCBI	ChiLan1.0	ChiLan1.0

SLBP
(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	3	2,021,762 - 2,041,101 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	4	1,956,969 - 1,976,729 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	4	1,830,247 - 1,849,890 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	4	1,744,612 - 1,772,962 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	4	1,744,616 - 1,763,796 (-)	Ensembl	panpan1.1		panPan2

SLBP
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	3	62,386,982 - 62,401,541 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	3	62,386,977 - 62,400,891 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	3	64,904,699 - 64,919,261 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	3	62,862,384 - 62,876,780 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	3	62,862,384 - 62,876,763 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	3	62,355,910 - 62,370,480 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	3	62,559,430 - 62,573,999 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	3	62,918,670 - 62,933,236 (+)	NCBI		UU_Cfam_GSD_1.0

Slbp
(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_024405285	67,970,403 - 67,979,216 (+)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936477	21,671,842 - 21,680,915 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936477	21,672,143 - 21,680,899 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SLBP
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	8	802,940 - 818,216 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	8	802,940 - 818,161 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	8	321,600 - 332,488 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SLBP
(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	27	47,054,154 - 47,075,104 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	27	47,054,787 - 47,074,537 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666051	3,430,870 - 3,451,975 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Slbp
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624755	25,699,977 - 25,714,348 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SLBP
19 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	copy number loss	See cases [RCV000050809]	Chr4:72555..2108607 [GRCh38] Chr4:72447..2110334 [GRCh37] Chr4:62447..2080132 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:620566-2958209)x3	copy number gain	See cases [RCV000050834]	Chr4:620566..2958209 [GRCh38] Chr4:614355..2959936 [GRCh37] Chr4:604355..2929734 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:51519-3775116)x3	copy number gain	See cases [RCV000050948]	Chr4:51519..3775116 [GRCh38] Chr4:51413..3776843 [GRCh37] Chr4:41413..3746641 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51519-8222798)x3	copy number gain	See cases [RCV000050906]	Chr4:51519..8222798 [GRCh38] Chr4:51413..8224525 [GRCh37] Chr4:41413..8275425 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:1196923-2487080)x3	copy number gain	See cases [RCV000051564]	Chr4:1196923..2487080 [GRCh38] Chr4:1190711..2488807 [GRCh37] Chr4:1180711..2458605 [NCBI36] Chr4:4p16.3	uncertain significance
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1	copy number loss	See cases [RCV000051642]	Chr4:72555..28066309 [GRCh38] Chr4:72447..28067931 [GRCh37] Chr4:62447..27677029 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3(chr4:56878-3870653)x1	copy number loss	See cases [RCV000051613]	Chr4:56878..3870653 [GRCh38] Chr4:56772..3872380 [GRCh37] Chr4:46772..3842178 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:56878-14499760)x1	copy number loss	See cases [RCV000051614]	Chr4:56878..14499760 [GRCh38] Chr4:56772..14501384 [GRCh37] Chr4:46772..14110482 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3(chr4:56878-2213205)x1	copy number loss	See cases [RCV000051638]	Chr4:56878..2213205 [GRCh38] Chr4:56772..2214932 [GRCh37] Chr4:46772..2184730 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2108748)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051639]\|See cases [RCV000051639]	Chr4:72355..2108748 [GRCh38] Chr4:72247..2110475 [GRCh37] Chr4:62247..2080273 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72355-2400359)x1	copy number loss	See cases [RCV000051640]	Chr4:72355..2400359 [GRCh38] Chr4:72247..2402086 [GRCh37] Chr4:62247..2371884 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-7829425)x1	copy number loss	See cases [RCV000051641]	Chr4:72555..7829425 [GRCh38] Chr4:72447..7831152 [GRCh37] Chr4:62447..7882052 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1676799-5212384)x4	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051807]\|See cases [RCV000051807]	Chr4:1676799..5212384 [GRCh38] Chr4:1678526..5214111 [GRCh37] Chr4:1648324..5265012 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]\|See cases [RCV000051752]	Chr4:51519..26519788 [GRCh38] Chr4:51413..26521410 [GRCh37] Chr4:41413..26130508 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3	copy number gain	See cases [RCV000051753]	Chr4:72555..33130620 [GRCh38] Chr4:72447..33132242 [GRCh37] Chr4:62447..32808637 [NCBI36] Chr4:4p16.3-15.1	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:85149-4596207)x3	copy number gain	See cases [RCV000051756]	Chr4:85149..4596207 [GRCh38] Chr4:85040..4597934 [GRCh37] Chr4:75040..4648835 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3	copy number gain	See cases [RCV000051757]	Chr4:85149..38700366 [GRCh38] Chr4:85040..38701987 [GRCh37] Chr4:75040..38378382 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5607083)x3	copy number gain	See cases [RCV000051754]	Chr4:72555..5607083 [GRCh38] Chr4:72447..5608810 [GRCh37] Chr4:62447..5659711 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2009034)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051669]\|See cases [RCV000051669]	Chr4:72555..2009034 [GRCh38] Chr4:72447..2010761 [GRCh37] Chr4:62447..1980559 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5034991)x1	copy number loss	See cases [RCV000051671]	Chr4:72555..5034991 [GRCh38] Chr4:72447..5036718 [GRCh37] Chr4:62447..5087619 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10004195)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051672]\|See cases [RCV000051672]	Chr4:72555..10004195 [GRCh38] Chr4:72447..10005819 [GRCh37] Chr4:62447..9614917 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3	copy number gain	See cases [RCV000051755]	Chr4:85149..22450018 [GRCh38] Chr4:85040..22451641 [GRCh37] Chr4:75040..22060739 [NCBI36] Chr4:4p16.3-15.2	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-11610824)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051674]\|See cases [RCV000051674]	Chr4:72555..11610824 [GRCh38] Chr4:72447..11612448 [GRCh37] Chr4:62447..11221546 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x3	copy number gain	See cases [RCV000051675]	Chr4:72555..3847154 [GRCh38] Chr4:72447..3848881 [GRCh37] Chr4:62447..3818679 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3847154)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051676]\|See cases [RCV000051676]	Chr4:72555..3847154 [GRCh38] Chr4:72447..3848881 [GRCh37] Chr4:62447..3818679 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5212384)x1	copy number loss	See cases [RCV000051677]	Chr4:72555..5212384 [GRCh38] Chr4:72447..5214111 [GRCh37] Chr4:62447..5265012 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7063699)x1	copy number loss	See cases [RCV000051678]	Chr4:85149..7063699 [GRCh38] Chr4:85040..7065426 [GRCh37] Chr4:75040..7116327 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2325477)x1	copy number loss	See cases [RCV000051643]	Chr4:72555..2325477 [GRCh38] Chr4:72447..2327204 [GRCh37] Chr4:62447..2297002 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3785385)x1	copy number loss	See cases [RCV000051644]	Chr4:72555..3785385 [GRCh38] Chr4:72447..3787112 [GRCh37] Chr4:62447..3756910 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1	copy number loss	See cases [RCV000051679]	Chr4:85149..17486742 [GRCh38] Chr4:85040..17488365 [GRCh37] Chr4:75040..17097463 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:51319-10250807)x3	copy number gain	See cases [RCV000051743]	Chr4:51319..10250807 [GRCh38] Chr4:51213..10252431 [GRCh37] Chr4:41213..9861529 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3206313)x1	copy number loss	See cases [RCV000051645]	Chr4:72555..3206313 [GRCh38] Chr4:72447..3208040 [GRCh37] Chr4:62447..3177838 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3460958)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051646]\|See cases [RCV000051646]	Chr4:72555..3460958 [GRCh38] Chr4:72447..3462685 [GRCh37] Chr4:62447..3432483 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:85149-7843616)x1	copy number loss	See cases [RCV000051680]	Chr4:85149..7843616 [GRCh38] Chr4:85040..7845343 [GRCh37] Chr4:75040..7896243 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:85149-4405782)x1	copy number loss	See cases [RCV000051681]	Chr4:85149..4405782 [GRCh38] Chr4:85040..4407509 [GRCh37] Chr4:75040..4458410 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:85149-1919505)x1	copy number loss	See cases [RCV000053259]	Chr4:85149..1919505 [GRCh38] Chr4:85040..1921232 [GRCh37] Chr4:75040..1891030 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:85149-2008535)x1	copy number loss	See cases [RCV000053260]	Chr4:85149..2008535 [GRCh38] Chr4:85040..2010262 [GRCh37] Chr4:75040..1980060 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:336191-2213205)x1	copy number loss	See cases [RCV000053261]	Chr4:336191..2213205 [GRCh38] Chr4:507005..2214932 [GRCh37] Chr4:319980..2184730 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:1598653-4722090)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053396]\|See cases [RCV000053396]	Chr4:1598653..4722090 [GRCh38] Chr4:1600380..4723817 [GRCh37] Chr4:1570340..4774718 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-5344810)x1	copy number loss	See cases [RCV000133846]	Chr4:72555..5344810 [GRCh38] Chr4:72447..5346537 [GRCh37] Chr4:62447..5397438 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3	copy number gain	See cases [RCV000133677]	Chr4:72555..39477144 [GRCh38] Chr4:72447..39478764 [GRCh37] Chr4:62447..39155159 [NCBI36] Chr4:4p16.3-14	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:78578-10335613)x1	copy number loss	See cases [RCV000135336]	Chr4:78578..10335613 [GRCh38] Chr4:78470..10337237 [GRCh37] Chr4:68470..9946335 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:78578-3363219)x1	copy number loss	See cases [RCV000135317]	Chr4:78578..3363219 [GRCh38] Chr4:78470..3364946 [GRCh37] Chr4:68470..3334744 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:78578-15625573)x3	copy number gain	See cases [RCV000135349]	Chr4:78578..15625573 [GRCh38] Chr4:78470..15627196 [GRCh37] Chr4:68470..15236294 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3(chr4:37335-3775112)x1	copy number loss	See cases [RCV000134785]	Chr4:37335..3775112 [GRCh38] Chr4:37336..3776839 [GRCh37] Chr4:27336..3746637 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1	copy number loss	See cases [RCV000135657]	Chr4:72555..17278013 [GRCh38] Chr4:72447..17279636 [GRCh37] Chr4:62447..16888734 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:135972-9369341)x1	copy number loss	See cases [RCV000135436]	Chr4:135972..9369341 [GRCh38] Chr4:129753..9371067 [GRCh37] Chr4:119753..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3-16.2(chr4:72555-4888108)x1	copy number loss	See cases [RCV000135584]	Chr4:72555..4888108 [GRCh38] Chr4:72447..4889835 [GRCh37] Chr4:62447..4940736 [NCBI36] Chr4:4p16.3-16.2	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-15658035)x1	copy number loss	See cases [RCV000135532]	Chr4:72555..15658035 [GRCh38] Chr4:72447..15659658 [GRCh37] Chr4:62447..15268756 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-6243425)x1	copy number loss	See cases [RCV000136572]	Chr4:72555..6243425 [GRCh38] Chr4:72447..6245152 [GRCh37] Chr4:62447..6296053 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|likely pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:37335-9369258)x1	copy number loss	See cases [RCV000135992]	Chr4:37335..9369258 [GRCh38] Chr4:37336..9370984 [GRCh37] Chr4:27336..8980082 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-4358718)x1	copy number loss	See cases [RCV000136844]	Chr4:72555..4358718 [GRCh38] Chr4:72447..4360445 [GRCh37] Chr4:62447..4411346 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:72555-10250666)x1	copy number loss	See cases [RCV000137036]	Chr4:72555..10250666 [GRCh38] Chr4:72447..10252290 [GRCh37] Chr4:62447..9861388 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3	copy number gain	See cases [RCV000137071]	Chr4:51519..17798196 [GRCh38] Chr4:51413..17799819 [GRCh37] Chr4:41413..17408917 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3724047)x1	copy number loss	See cases [RCV000136930]	Chr4:72555..3724047 [GRCh38] Chr4:72447..3725774 [GRCh37] Chr4:62447..3695572 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-3561655)x1	copy number loss	See cases [RCV000136730]	Chr4:72555..3561655 [GRCh38] Chr4:72447..3563382 [GRCh37] Chr4:62447..3533180 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3	copy number gain	See cases [RCV000137261]	Chr4:36424..47491595 [GRCh38] Chr4:36424..47493612 [GRCh37] Chr4:26424..47188369 [NCBI36] Chr4:4p16.3-12	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:72555-12898612)x1	copy number loss	See cases [RCV000138198]	Chr4:72555..12898612 [GRCh38] Chr4:72447..12900236 [GRCh37] Chr4:62447..12509334 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3	copy number gain	See cases [RCV000138305]	Chr4:72555..21022414 [GRCh38] Chr4:72447..21024037 [GRCh37] Chr4:62447..20633135 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-9369341)x1	copy number loss	See cases [RCV000138227]	Chr4:36424..9369341 [GRCh38] Chr4:36424..9371067 [GRCh37] Chr4:26424..8980165 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|uncertain significance
GRCh38/hg38 4p16.3(chr4:36424-4097002)x3	copy number gain	See cases [RCV000139432]	Chr4:36424..4097002 [GRCh38] Chr4:36424..4098729 [GRCh37] Chr4:26424..4149630 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3974044)x1	copy number loss	See cases [RCV000139441]	Chr4:36424..3974044 [GRCh38] Chr4:36424..3975771 [GRCh37] Chr4:26424..4026672 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3265531)x1	copy number loss	See cases [RCV000139019]	Chr4:36424..3265531 [GRCh38] Chr4:36424..3267258 [GRCh37] Chr4:26424..3237056 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:37335-15869056)x1	copy number loss	See cases [RCV000139551]	Chr4:37335..15869056 [GRCh38] Chr4:37336..15870679 [GRCh37] Chr4:27336..15479777 [NCBI36] Chr4:4p16.3-15.32	pathogenic
GRCh38/hg38 4p16.3(chr4:68453-1997458)x1	copy number loss	See cases [RCV000141882]	Chr4:68453..1997458 [GRCh38] Chr4:68345..1999185 [GRCh37] Chr4:58345..1968983 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:36424-7359817)x1	copy number loss	See cases [RCV000142951]	Chr4:36424..7359817 [GRCh38] Chr4:36424..7361544 [GRCh37] Chr4:26424..7412445 [NCBI36] Chr4:4p16.3-16.1	pathogenic\|likely benign
GRCh38/hg38 4p16.3-16.1(chr4:68453-8730129)x1	copy number loss	See cases [RCV000143377]	Chr4:68453..8730129 [GRCh38] Chr4:68345..8731855 [GRCh37] Chr4:58345..8782755 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:72555-2689579)x1	copy number loss	See cases [RCV000143324]	Chr4:72555..2689579 [GRCh38] Chr4:72447..2691306 [GRCh37] Chr4:62447..2661104 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:36424-3881330)x1	copy number loss	See cases [RCV000143247]	Chr4:36424..3881330 [GRCh38] Chr4:36424..3883057 [GRCh37] Chr4:26424..3852855 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3(chr4:36424-1956092)x1	copy number loss	See cases [RCV000143172]	Chr4:36424..1956092 [GRCh38] Chr4:36424..1957819 [GRCh37] Chr4:26424..1927617 [NCBI36] Chr4:4p16.3	pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1	copy number loss	See cases [RCV000143713]	Chr4:68453..20385608 [GRCh38] Chr4:68345..20387231 [GRCh37] Chr4:58345..19996329 [NCBI36] Chr4:4p16.3-15.31	pathogenic
GRCh38/hg38 4p16.3-15.33(chr4:68453-14612453)x1	copy number loss	See cases [RCV000143686]	Chr4:68453..14612453 [GRCh38] Chr4:68345..14614077 [GRCh37] Chr4:58345..14223175 [NCBI36] Chr4:4p16.3-15.33	pathogenic
GRCh38/hg38 4p16.3-16.1(chr4:68453-6055026)x1	copy number loss	See cases [RCV000143547]	Chr4:68453..6055026 [GRCh38] Chr4:68345..6056753 [GRCh37] Chr4:58345..6107654 [NCBI36] Chr4:4p16.3-16.1	pathogenic
GRCh38/hg38 4p16.3(chr4:1699291-1973304)x1	copy number loss	See cases [RCV000143548]	Chr4:1699291..1973304 [GRCh38] Chr4:1701018..1975031 [GRCh37] Chr4:1670816..1944829 [NCBI36] Chr4:4p16.3	likely pathogenic
GRCh38/hg38 4p16.3(chr4:1423130-2053191)x3	copy number gain	See cases [RCV000143647]	Chr4:1423130..2053191 [GRCh38] Chr4:1416918..2054918 [GRCh37] Chr4:1406918..2024716 [NCBI36] Chr4:4p16.3	likely benign\|uncertain significance
GRCh38/hg38 4p16.3(chr4:72555-2108607)x1	copy number loss	See cases [RCV000148263]	Chr4:72555..2108607 [GRCh38] Chr4:72447..2110334 [GRCh37] Chr4:62447..2080132 [NCBI36] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1190911-2255904)x1	copy number loss	See cases [RCV000239816]	Chr4:1190911..2255904 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1	copy number loss	See cases [RCV000203431]	Chr4:44020..19796182 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:75742-8672411)	copy number loss	4p partial monosomy syndrome [RCV000767672]	Chr4:75742..8672411 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1	copy number loss	See cases [RCV000240003]	Chr4:71552..29006745 [GRCh37] Chr4:4p16.3-15.1	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:49450-8872474)x1	copy number loss	See cases [RCV000239427]	Chr4:49450..8872474 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3	copy number gain	See cases [RCV000240562]	Chr4:12440..49064044 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:127233-8667610)x3	copy number gain	See cases [RCV000240481]	Chr4:127233..8667610 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	See cases [RCV002292704]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not specified [RCV003986479]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3(chr4:1229130-1852978)x3	copy number gain	See cases [RCV000449380]	Chr4:1229130..1852978 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1	copy number loss	See cases [RCV000449197]	Chr4:68345..20533787 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2126308)x1	copy number loss	See cases [RCV000449467]	Chr4:68345..2126308 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2155022)x1	copy number loss	See cases [RCV000447208]	Chr4:68345..2155022 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-15197147)x1	copy number loss	See cases [RCV000446287]	Chr4:68345..15197147 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3	copy number gain	See cases [RCV000446451]	Chr4:68345..49093788 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3	copy number gain	See cases [RCV000446653]	Chr4:12440..190904441 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000447633]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2502977)x1	copy number loss	See cases [RCV000449010]	Chr4:68345..2502977 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:71552-15302739)x1	copy number loss	See cases [RCV000448933]	Chr4:71552..15302739 [GRCh37] Chr4:4p16.3-15.32	pathogenic
GRCh37/hg19 4p16.3(chr4:29214-1925508)x1	copy number loss	See cases [RCV000447910]	Chr4:29214..1925508 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3713599)x3	copy number gain	See cases [RCV000512063]	Chr4:68345..3713599 [GRCh37] Chr4:4p16.3	likely pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10336032)x1	copy number loss	See cases [RCV000512104]	Chr4:68345..10336032 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1	copy number loss	See cases [RCV000510662]	Chr4:68345..15973383 [GRCh37] Chr4:4p16.3-15.32	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x3	copy number gain	See cases [RCV000510565]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)	copy number gain	See cases [RCV000510453]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-4044985)x1	copy number loss	See cases [RCV000510596]	Chr4:68345..4044985 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-13770107)x1	copy number loss	See cases [RCV000511351]	Chr4:68345..13770107 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5319773)x1	copy number loss	See cases [RCV000511691]	Chr4:68345..5319773 [GRCh37] Chr4:4p16.3-16.2	pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3	copy number gain	See cases [RCV000511193]	Chr4:68345..66440622 [GRCh37] Chr4:4p16.3-q13.1	pathogenic
GRCh37/hg19 4p16.3(chr4:910410-1798461)x3	copy number gain	See cases [RCV000510819]	Chr4:910410..1798461 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-3891984)x1	copy number loss	See cases [RCV000512438]	Chr4:68345..3891984 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3	copy number gain	See cases [RCV000512241]	Chr4:68346..190957473 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3	copy number gain	not provided [RCV000682363]	Chr4:68345..49089361 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3	copy number gain	not provided [RCV000743155]	Chr4:49450..190915650 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3	copy number gain	not provided [RCV000743156]	Chr4:49450..190963766 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3	copy number gain	not provided [RCV000743147]	Chr4:11525..191028879 [GRCh37] Chr4:4p16.3-q35.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3	copy number gain	not provided [RCV000743201]	Chr4:1356924..49659859 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3(chr4:1500754-2344692)x3	copy number gain	not provided [RCV000743203]	Chr4:1500754..2344692 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:49450-2010397)x1	copy number loss	not provided [RCV000743153]	Chr4:49450..2010397 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3	copy number gain	not provided [RCV000743154]	Chr4:49450..46339070 [GRCh37] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3(chr4:1305802-2460571)	copy number loss	4p partial monosomy syndrome [RCV000767708]	Chr4:1305802..2460571 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1537622-1752555)x3	copy number gain	not provided [RCV000849678]	Chr4:1537622..1752555 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:1684415-1764940)x3	copy number gain	not provided [RCV000846376]	Chr4:1684415..1764940 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:1263544-1756564)x3	copy number gain	not provided [RCV000846448]	Chr4:1263544..1756564 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-2786584)x1	copy number loss	not provided [RCV001005508]	Chr4:68345..2786584 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-10312798)x1	copy number loss	not provided [RCV001005514]	Chr4:68345..10312798 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3(chr4:1588664-1741150)x3	copy number gain	not provided [RCV000848255]	Chr4:1588664..1741150 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:1666159-1738239)x1	copy number loss	not provided [RCV000847980]	Chr4:1666159..1738239 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:1624638-1710029)x1	copy number loss	not provided [RCV000845822]	Chr4:1624638..1710029 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:68345-4051616)x3	copy number gain	not provided [RCV000847002]	Chr4:68345..4051616 [GRCh37] Chr4:4p16.3	pathogenic
NM_006527.4(SLBP):c.643C>T (p.Leu215Phe)	single nucleotide variant	not specified [RCV004299809]	Chr4:1694827 [GRCh38] Chr4:1696554 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.712A>T (p.Thr238Ser)	single nucleotide variant	not specified [RCV004303688]	Chr4:1693698 [GRCh38] Chr4:1695425 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2437290)x1	copy number loss	not provided [RCV002472653]	Chr4:68346..2437290 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1180181-2009278)x3	copy number gain	not provided [RCV002473490]	Chr4:1180181..2009278 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68345-8731855)x1	copy number loss	not provided [RCV001005512]	Chr4:68345..8731855 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3	copy number gain	not provided [RCV001005510]	Chr4:68345..27423424 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-6984507)x1	copy number loss	not provided [RCV001005513]	Chr4:68345..6984507 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1	copy number loss	See cases [RCV001007422]	Chr4:49450..24280482 [GRCh37] Chr4:4p16.3-15.2	pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3	copy number gain	See cases [RCV001194594]	Chr4:49450..49620898 [GRCh37] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-9768141)x1	copy number loss	not provided [RCV001005511]	Chr4:68345..9768141 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1	copy number loss	not provided [RCV001537927]	Chr4:68598..18912995 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2137211)x1	copy number loss	not provided [RCV001258634]	Chr4:68345..2137211 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3	copy number gain	See cases [RCV001263050]	Chr4:1420948..1836794 [GRCh37] Chr4:4p16.3	likely pathogenic
GRCh37/hg19 4p16.3(chr4:68345-2503033)x3	copy number gain	not provided [RCV001258635]	Chr4:68345..2503033 [GRCh37] Chr4:4p16.3	pathogenic
Single allele	complex	Heart, malformation of [RCV002280661]	Chr4:68345..1870548 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1377513-1725206)x3	copy number gain	not provided [RCV001258640]	Chr4:1377513..1725206 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-16.2(chr4:68345-5046326)x1	copy number loss	not provided [RCV001258643]	Chr4:68345..5046326 [GRCh37] Chr4:4p16.3-16.2	pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5831521)x1	copy number loss	not provided [RCV001258644]	Chr4:68345..5831521 [GRCh37] Chr4:4p16.3-16.2	pathogenic
GRCh37/hg19 4p16.3(chr4:388344-3872380)	copy number loss	Fetal growth restriction [RCV001352672]	Chr4:388344..3872380 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3	copy number gain	not provided [RCV001537928]	Chr4:69671..29702595 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NC_000004.11:g.(?_1619775)_(2181192_?)del	deletion	not provided [RCV001388563]	Chr4:1619775..2181192 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1537623-1740152)x3	copy number gain	not provided [RCV001833077]	Chr4:1537623..1740152 [GRCh37] Chr4:4p16.3	likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1	copy number loss	not provided [RCV001829146]	Chr4:68345..20587167 [GRCh37] Chr4:4p16.3-15.31	pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)del	deletion	Fibrous dysplasia of jaw [RCV001943824]	Chr4:493125..3495228 [GRCh37] Chr4:4p16.3	uncertain significance
NC_000004.11:g.(?_493125)_(2065854_?)del	deletion	not provided [RCV001975185]	Chr4:493125..2065854 [GRCh37] Chr4:4p16.3	pathogenic
NC_000004.11:g.(?_493125)_(2886413_?)del	deletion	Mucopolysaccharidosis type 1 [RCV001960721]	Chr4:493125..2886413 [GRCh37] Chr4:4p16.3	pathogenic
NC_000004.11:g.(?_493125)_(3495228_?)dup	duplication	Fibrous dysplasia of jaw [RCV003113187]	Chr4:493125..3495228 [GRCh37] Chr4:4p16.3	uncertain significance
NC_000004.11:g.(?_493125)_(1843544_?)del	deletion	not provided [RCV003119410]	Chr4:493125..1843544 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.23C>T (p.Pro8Leu)	single nucleotide variant	not specified [RCV004322970]	Chr4:1712166 [GRCh38] Chr4:1713893 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1	copy number loss	See cases [RCV002286359]	Chr4:68345..20964575 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-5579467)x1	copy number loss	See cases [RCV002286339]	Chr4:68345..5579467 [GRCh37] Chr4:4p16.3-16.2	pathogenic
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3	copy number gain	FETAL DEMISE [RCV002282978]	Chr4:114784..47569569 [GRCh37] Chr4:4p16.3-12	pathogenic
GRCh37/hg19 4p16.3(chr4:963688-2913553)x3	copy number gain	not provided [RCV002473933]	Chr4:963688..2913553 [GRCh37] Chr4:4p16.3	likely pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:1-12785001)x1	copy number loss	not provided [RCV002473938]	Chr4:1..12785001 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68346-12369983)x1	copy number loss	not provided [RCV002473869]	Chr4:68346..12369983 [GRCh37] Chr4:4p16.3-15.33	pathogenic
NM_006527.4(SLBP):c.517A>G (p.Asn173Asp)	single nucleotide variant	not specified [RCV004117057]	Chr4:1696314 [GRCh38] Chr4:1698041 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.298C>G (p.Leu100Val)	single nucleotide variant	not specified [RCV004267775]	Chr4:1700054 [GRCh38] Chr4:1701781 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694)	copy number gain	4p16.3 microduplication syndrome [RCV003319592]	Chr4:68345..34512694 [GRCh37] Chr4:4p16.3-15.1	pathogenic
NM_006527.4(SLBP):c.206G>A (p.Arg69His)	single nucleotide variant	not specified [RCV004299874]	Chr4:1703671 [GRCh38] Chr4:1705398 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3	copy number gain	Neurodevelopmental disorder [RCV003327613]	Chr4:85624..57073230 [GRCh38] Chr4:4p16.3-q12	pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3	copy number gain	Neurodevelopmental disorder [RCV003327611]	Chr4:1..49062177 [GRCh38] Chr4:4p16.3-11	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1	copy number loss	not provided [RCV003334269]	Chr4:85622..16900108 [GRCh37] Chr4:4p16.3-15.32	pathogenic
NM_006527.4(SLBP):c.151C>T (p.Arg51Cys)	single nucleotide variant	not specified [RCV004362547]	Chr4:1711899 [GRCh38] Chr4:1713626 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.239A>G (p.Glu80Gly)	single nucleotide variant	not specified [RCV004357646]	Chr4:1703638 [GRCh38] Chr4:1705365 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.539G>C (p.Arg180Pro)	single nucleotide variant	not specified [RCV004359011]	Chr4:1696292 [GRCh38] Chr4:1698019 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3(chr4:68346-2681414)x1	copy number loss	not provided [RCV003485406]	Chr4:68346..2681414 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3(chr4:1497034-2571696)x4	copy number gain	not provided [RCV003485344]	Chr4:1497034..2571696 [GRCh37] Chr4:4p16.3	uncertain significance
GRCh37/hg19 4p16.3-16.1(chr4:68346-7171784)x3	copy number gain	not provided [RCV003484164]	Chr4:68346..7171784 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:68345-14083766)x1	copy number loss	not specified [RCV003986510]	Chr4:68345..14083766 [GRCh37] Chr4:4p16.3-15.33	pathogenic
GRCh37/hg19 4p16.3(chr4:769757-2009467)x3	copy number gain	not specified [RCV003986525]	Chr4:769757..2009467 [GRCh37] Chr4:4p16.3	likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-21143236)x1	copy number loss	not specified [RCV003986488]	Chr4:68345..21143236 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3(chr4:68345-3510024)x1	copy number loss	not specified [RCV003986499]	Chr4:68345..3510024 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-19103550)x1	copy number loss	not specified [RCV003986512]	Chr4:68345..19103550 [GRCh37] Chr4:4p16.3-15.31	pathogenic
GRCh37/hg19 4p16.3-16.2(chr4:68345-4611819)x1	copy number loss	not specified [RCV003986508]	Chr4:68345..4611819 [GRCh37] Chr4:4p16.3-16.2	pathogenic
GRCh37/hg19 4p16.3(chr4:68346-3122209)x1	copy number loss	not specified [RCV003986538]	Chr4:68346..3122209 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-16.1(chr4:68345-7923907)x1	copy number loss	not specified [RCV003986500]	Chr4:68345..7923907 [GRCh37] Chr4:4p16.3-16.1	pathogenic
GRCh37/hg19 4p16.3-15.33(chr4:85622-13316942)x1	copy number loss	not provided [RCV003885506]	Chr4:85622..13316942 [GRCh37] Chr4:4p16.3-15.33	pathogenic
NM_006527.4(SLBP):c.91C>G (p.Arg31Gly)	single nucleotide variant	not specified [RCV004456145]	Chr4:1711959 [GRCh38] Chr4:1713686 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.596C>T (p.Pro199Leu)	single nucleotide variant	not specified [RCV004456144]	Chr4:1696235 [GRCh38] Chr4:1697962 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.384T>G (p.Phe128Leu)	single nucleotide variant	not specified [RCV004456143]	Chr4:1699659 [GRCh38] Chr4:1701386 [GRCh37] Chr4:4p16.3	likely benign
NM_006527.4(SLBP):c.536G>T (p.Ser179Ile)	single nucleotide variant	not specified [RCV004670033]	Chr4:1696295 [GRCh38] Chr4:1698022 [GRCh37] Chr4:4p16.3	uncertain significance
NM_006527.4(SLBP):c.486T>C (p.Leu162=)	single nucleotide variant	not provided [RCV004811159]	Chr4:1696345 [GRCh38] Chr4:1698072 [GRCh37] Chr4:4p16.3	likely benign
GRCh37/hg19 4p16.3(chr4:68346-2948917)x1	copy number loss	not provided [RCV004819339]	Chr4:68346..2948917 [GRCh37] Chr4:4p16.3	pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68346-16744084)x3	copy number gain	not provided [RCV004819301]	Chr4:68346..16744084 [GRCh37] Chr4:4p16.3-15.32	pathogenic
NM_006527.4(SLBP):c.457C>T (p.Arg153Cys)	single nucleotide variant	not specified [RCV004864553]	Chr4:1699586 [GRCh38] Chr4:1701313 [GRCh37] Chr4:4p16.3	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	1436
Count of miRNA genes:	482
Interacting mature miRNAs:	507
Transcripts:	ENST00000318386, ENST00000429429, ENST00000480936, ENST00000483348, ENST00000488267, ENST00000489418
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
597159030	GWAS1255104_H	BMI-adjusted hip circumference QTL GWAS1255104 (human)		5e-09	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	4	1695610	1695611	Human
597329179	GWAS1425253_H	osteoarthritis QTL GWAS1425253 (human)		0.0000005	osteoarthritis		4	1702517	1702518	Human
597328604	GWAS1424678_H	osteoarthritis QTL GWAS1424678 (human)		4e-08	osteoarthritis		4	1702517	1702518	Human
597252415	GWAS1348489_H	serum gamma-glutamyl transferase measurement QTL GWAS1348489 (human)		1e-15	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	4	1710049	1710050	Human
597113789	GWAS1209863_H	osteoarthritis, hip, osteoarthritis, knee QTL GWAS1209863 (human)		9e-10	osteoarthritis, hip, osteoarthritis, knee		4	1702517	1702518	Human
597297748	GWAS1393822_H	BMI-adjusted hip circumference QTL GWAS1393822 (human)		2e-19	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	4	1695610	1695611	Human
597091832	GWAS1187906_H	BMI-adjusted hip circumference QTL GWAS1187906 (human)		0.0000008	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	4	1699590	1699591	Human
597199016	GWAS1295090_H	lean body mass QTL GWAS1295090 (human)		5e-17	body lean mass (VT:0010483)	total body lean mass (CMO:0003950)	4	1693082	1693083	Human
597320494	GWAS1416568_H	body surface area QTL GWAS1416568 (human)		2e-17	body surface area		4	1695610	1695611	Human
597146051	GWAS1242125_H	severe acute respiratory syndrome, COVID-19 QTL GWAS1242125 (human)		0.0000008	severe acute respiratory syndrome, COVID-19		4	1702815	1702816	Human
597341837	GWAS1437911_H	osteoarthritis QTL GWAS1437911 (human)		0.000002	osteoarthritis		4	1702517	1702518	Human
597328877	GWAS1424951_H	osteoarthritis QTL GWAS1424951 (human)		3e-09	osteoarthritis		4	1702517	1702518	Human
597340397	GWAS1436471_H	serum gamma-glutamyl transferase measurement QTL GWAS1436471 (human)		1e-14	serum gamma-glutamyl transferase measurement	serum gamma-glutamyltransferase activity level (CMO:0002241)	4	1711241	1711242	Human
597337185	GWAS1433259_H	osteoarthritis QTL GWAS1433259 (human)		0.0000002	osteoarthritis		4	1702517	1702518	Human
597340262	GWAS1436336_H	cartilage thickness measurement QTL GWAS1436336 (human)		1e-13	cartilage morphology trait (VT:0000163)		4	1701919	1701920	Human
597059051	GWAS1155125_H	vital capacity QTL GWAS1155125 (human)		4e-08	vital capacity		4	1709677	1709678	Human
406949470	GWAS598446_H	BMI-adjusted hip circumference QTL GWAS598446 (human)		6e-10	BMI-adjusted hip circumference	hip circumference (CMO:0000014)	4	1699590	1699591	Human
597073481	GWAS1169555_H	cartilage thickness measurement QTL GWAS1169555 (human)		0.000001	cartilage morphology trait (VT:0000163)		4	1702815	1702816	Human

RH27233

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	80,631,844 - 80,632,065	UniSTS	GRCh37
GRCh37	4	1,707,288 - 1,707,505	UniSTS	GRCh37
Build 36	4	1,677,086 - 1,677,303	RGD	NCBI36
Celera	16	64,930,743 - 64,930,964	UniSTS
Celera	4	1,618,388 - 1,618,605	RGD
Cytogenetic Map	4	p16.3	UniSTS
HuRef	16	66,388,412 - 66,388,633	UniSTS
HuRef	4	1,650,226 - 1,650,443	UniSTS

WI-11359

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	1,694,537 - 1,694,662	UniSTS	GRCh37
Build 36	4	1,664,335 - 1,664,460	RGD	NCBI36
Celera	4	1,605,636 - 1,605,761	RGD
Cytogenetic Map	4	p16.3	UniSTS
HuRef	4	1,637,475 - 1,637,600	UniSTS
GeneMap99-GB4 RH Map	4	24.01	UniSTS
Whitehead-RH Map	4	15.2	UniSTS

SHGC-67765

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	4	1,697,482 - 1,697,582	UniSTS	GRCh37
Build 36	4	1,667,280 - 1,667,380	RGD	NCBI36
Celera	4	1,608,581 - 1,608,681	RGD
Cytogenetic Map	4	p16.3	UniSTS
HuRef	4	1,640,420 - 1,640,520	UniSTS
GeneMap99-GB4 RH Map	4	24.01	UniSTS
NCBI RH Map	4	55.5	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	NM_001306074	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001306075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_006527	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054350815	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_002959759	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC016773	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK091735	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK093314	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK094257	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK300826	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK315635	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC014908	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC015703	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM976632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BT007433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471131	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068274	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA064026	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB027411	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DB031118	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DC383752	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584820	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	U75679	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	Z71188	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000318386 ⟹ ENSP00000316490

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,692,858 - 1,712,250 (-)	Ensembl

Ensembl Acc Id:

ENST00000429429 ⟹ ENSP00000406322

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,692,800 - 1,712,318 (-)	Ensembl

Ensembl Acc Id:

ENST00000480936 ⟹ ENSP00000417359

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,696,295 - 1,712,344 (-)	Ensembl

Ensembl Acc Id:

ENST00000483348 ⟹ ENSP00000426891

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,693,244 - 1,712,018 (-)	Ensembl

Ensembl Acc Id:

ENST00000488267 ⟹ ENSP00000418658

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,693,447 - 1,712,317 (-)	Ensembl

Ensembl Acc Id:

ENST00000489418 ⟹ ENSP00000417686

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	4	1,692,731 - 1,712,319 (-)	Ensembl

RefSeq Acc Id:

NM_001306074 ⟹ NP_001293003

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	1,692,731 - 1,712,319 (-)	NCBI
CHM1_1	4	1,692,236 - 1,712,427 (-)	NCBI
T2T-CHM13v2.0	4	1,690,606 - 1,710,149 (-)	NCBI

Sequence:

show sequence

AGAGCTCGTGAGCGCCGGCGCGGGGACGCGGGTTTCTGCCTCAGGCCCTGCCCTGCTCTACTCTGCGCTCTCTGCCCGCGCCGCCGCCGCCTCAGCCTCGGCCCTGCGCTGCGCGCCCGGCCCGTGCT
GCCATGGCCTGCCGCCCGCGAAGCCCGCCGAGGCATCAGAGCCGCTGCGACGGTGACGCCAGCCCGCCGTCCCCCGCGCGATGGAGCCTGGGACGGAAGCGCAGAGCCGACGGCAGGCGCTGGAGGCC
CGAAGACGCCGAGGAGGCAGAGCACCGCGGCGCCGAGCGCAGACCCGAGAGATATAAAAGGAAACTCCTCATCAATGACTTTGGAAGAGAGAGAAAATCATCATCAGGAAGTTCTGATTCAAAGGAGT
CTATGTCTACTGTGCCGGCTGACTTTGAGACAGATGAAAGTGTCCTAATGAGGAGACAGAAGCAGATCAACTATGGGAAGAACACAATTGCCTACGATCGTTATATTAAAGAAGTCCCAAGACACCTT
CGACAACCTGGCATTCATCCCAAGACCCCTAATAAATTTAAGAAGTATAGTCGACGTTCATGGGACCAGCAAATCAAACTCTGGAAGGTGGCTCTGCATTTTTGGGATCCTCCAGCGGAAGAAGGATG
TGATTTGCAAGAAATACACCCTGTAGACCTTGAATCTGCAGAAAGCAGCTCCGAGCCCCAGACCAGCTCTCAGGATGACTTTGATGTGTACTCTGGCACACCCACCAAGGTGAGACACATGGACAGTC
AAGTGGAGGATGAGTTTGATTTGGAAGCTTGTTTAACTGAACCCTTGAGAGACTTCTCAGCCATGAGCTAACTGCCCCCTGGCGGCCAGGAAGAGAAACAGCTCCTCCCCGACTAGGTGGAAGGCTGG
CCAGGCACCAAGCATGTGTGTGCACTTGTACCTGGTGGTTTCTCTGTTAGCAGTCCATTAGCTCATGCTGAATTATTTTTGCCTTACTTTCTTAAGAAACATTAATTTTATGTATAGTGAGTATATTT
TGCATGTTTTAAATTGTAAATGGAGCTAAGTCCAAGAAAGTACTTGAAGCTCTCTTCCAGCGAGCTTAATTGCGTAATCCCTGTTGTCCTCCAGGGTAAGCTGACACGTCTACATAACTGGTTTTCCA
CAGGCATCTTCAGTTATTGCTTGTCAGGTGGACTGTTTTGGATTTAACCATGTAATCCATGGGACCAATTGAGAGTCAGCTACTTTTATAGGCATCAAAGTATTCTCAGACACCTTTAATATCTTTAT
GGAAACTTAATTTTTGGCCTTTTATCAATATGTCATAACAGCATTCTGAAGTCAGACATTGTTAAATTGAGCTATTAAACTAATGAGTTTTATGTAAGTTATATGGTCTTAATTTGGTACTTGTAAAT
AGCACTAGTTAGACTCTTTAGAATACTCCAAGAGTTAGGGCAGCAGAGTGGAGCGATTTAGAAAGAACATTTTAAAACAATCAGTTAATTTACCATGTAAAATTGCTGTAAATGATAATGTGTACAGA
TTTTCTGTTCAAATATTCAATTGTAAACTTCTTGTTAAGACTGTTACGTTTCTATTGCTTTTGTATGGGATATTGCAAAAATAAAAAGGAAAGAACCCTCTTTCACTGACTGGGGCTGTTGCCAGGTG
GGCCAGCTGCCGTGAGAGCTGACATGTTTGGAGGGTCAGAA

hide sequence

RefSeq Acc Id:

NM_001306075 ⟹ NP_001293004

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	1,692,731 - 1,712,319 (-)	NCBI
CHM1_1	4	1,692,236 - 1,712,427 (-)	NCBI
T2T-CHM13v2.0	4	1,690,606 - 1,710,149 (-)	NCBI

Sequence:

show sequence

AGAGCTCGTGAGCGCCGGCGCGGGGACGCGGGTTTCTGCCTCAGGCCCTGCCCTGCTCTACTCT
GCGCTCTCTGCCCGCGCCGCCGCCGCCTCAGCCTCGGCCCTGCGCTGCGCGCCCGGCCCGTGCTGCCATGGCCTGCCGCCCGCGAAGCCCGCCGAGGCATCAGAGCCGCTGCGACGGTGACGCCAGCT
TTACCACTCCTGAAGGCCCTAAACCCCGTTCCAGATGCTCTGACTGGGCAAGTGCAGTTGAAGAAGATGAAATGAGGACCAGAGTTAACAAAGAAATGGCAAGATATAAAAGGAAACTCCTCATCAAT
GACTTTGGAAGAGAGAGAAAATCATCATCAGGAAGTTCTGATTCAAAGGAGTCTATGTCTACTGTGCCGGCTGACTTTGAGACAGATGAAAGTGTCCTAATGAGGAGACAGAAGCAGATCAACTATGG
GAAGAACACAATTGCCTACGATCGTTATATTAAAGAAGTCCCAAGACACCTTCGACAACCTGGCATTCATCCCAAGACCCCTAATAAATTTAAGAAGTATAGTCGACGTTCATGGGACCAGCAAATCA
AACTCTGGAAGGTGGCTCTGCATTTTTGGGATCCTCCAGCGGAAGAAGGATGTGATTTGCAAGAAATACACCCTGTAGACCTTGAATCTGCAGAAAGCAGCTCCGAGCCCCAGACCAGCTCTCAGGAT
GACTTTGATGTGTACTCTGGCACACCCACCAAGGTGAGACACATGGACAGTCAAGTGGAGGATGAGTTTGATTTGGAAGCTTGTTTAACTGAACCCTTGAGAGACTTCTCAGCCATGAGCTAACTGCC
CCCTGGCGGCCAGGAAGAGAAACAGCTCCTCCCCGACTAGGTGGAAGGCTGGCCAGGCACCAAGCATGTGTGTGCACTTGTACCTGGTGGTTTCTCTGTTAGCAGTCCATTAGCTCATGCTGAATTAT
TTTTGCCTTACTTTCTTAAGAAACATTAATTTTATGTATAGTGAGTATATTTTGCATGTTTTAAATTGTAAATGGAGCTAAGTCCAAGAAAGTACTTGAAGCTCTCTTCCAGCGAGCTTAATTGCGTA
ATCCCTGTTGTCCTCCAGGGTAAGCTGACACGTCTACATAACTGGTTTTCCACAGGCATCTTCAGTTATTGCTTGTCAGGTGGACTGTTTTGGATTTAACCATGTAATCCATGGGACCAATTGAGAGT
CAGCTACTTTTATAGGCATCAAAGTATTCTCAGACACCTTTAATATCTTTATGGAAACTTAATTTTTGGCCTTTTATCAATATGTCATAACAGCATTCTGAAGTCAGACATTGTTAAATTGAGCTATT
AAACTAATGAGTTTTATGTAAGTTATATGGTCTTAATTTGGTACTTGTAAATAGCACTAGTTAGACTCTTTAGAATACTCCAAGAGTTAGGGCAGCAGAGTGGAGCGATTTAGAAAGAACATTTTAAA
ACAATCAGTTAATTTACCATGTAAAATTGCTGTAAATGATAATGTGTACAGATTTTCTGTTCAAATATTCAATTGTAAACTTCTTGTTAAGACTGTTACGTTTCTATTGCTTTTGTATGGGATATTGC
AAAAATAAAAAGGAAAGAACCCTCTTTCACTGACTGGGGCTGTTGCCAGGTGGGCCAGCTGCCGTGAGAGCTGACATGTTTGGAGGGTCAGAA

hide sequence

RefSeq Acc Id:

NM_006527 ⟹ NP_006518

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	4	1,692,731 - 1,712,319 (-)	NCBI
GRCh37	4	1,694,527 - 1,714,421 (-)	NCBI
Build 36	4	1,664,325 - 1,683,828 (-)	NCBI Archive
HuRef	4	1,637,465 - 1,656,925 (-)	ENTREZGENE
CHM1_1	4	1,692,236 - 1,712,427 (-)	NCBI
T2T-CHM13v2.0	4	1,690,606 - 1,710,149 (-)	NCBI

Sequence:

show sequence

AGAGCTCGTGAGCGCCGGCGCGGGGACGCGGGTTTCTGCCTCAGGCCCTGCCCTGCTCTACTCTGCGCTCTCTGCCCGCGCCGCCGCCGCCTCAGCCTCGGCCCTGCGCTGCGCGCCCGGCCCGTGCT
GCCATGGCCTGCCGCCCGCGAAGCCCGCCGAGGCATCAGAGCCGCTGCGACGGTGACGCCAGCCCGCCGTCCCCCGCGCGATGGAGCCTGGGACGGAAGCGCAGAGCCGACGGCAGGCGCTGGAGGCC
CGAAGACGCCGAGGAGGCAGAGCACCGCGGCGCCGAGCGCAGACCCGAGAGCTTTACCACTCCTGAAGGCCCTAAACCCCGTTCCAGATGCTCTGACTGGGCAAGTGCAGTTGAAGAAGATGAAATGA
GGACCAGAGTTAACAAAGAAATGGCAAGATATAAAAGGAAACTCCTCATCAATGACTTTGGAAGAGAGAGAAAATCATCATCAGGAAGTTCTGATTCAAAGGAGTCTATGTCTACTGTGCCGGCTGAC
TTTGAGACAGATGAAAGTGTCCTAATGAGGAGACAGAAGCAGATCAACTATGGGAAGAACACAATTGCCTACGATCGTTATATTAAAGAAGTCCCAAGACACCTTCGACAACCTGGCATTCATCCCAA
GACCCCTAATAAATTTAAGAAGTATAGTCGACGTTCATGGGACCAGCAAATCAAACTCTGGAAGGTGGCTCTGCATTTTTGGGATCCTCCAGCGGAAGAAGGATGTGATTTGCAAGAAATACACCCTG
TAGACCTTGAATCTGCAGAAAGCAGCTCCGAGCCCCAGACCAGCTCTCAGGATGACTTTGATGTGTACTCTGGCACACCCACCAAGGTGAGACACATGGACAGTCAAGTGGAGGATGAGTTTGATTTG
GAAGCTTGTTTAACTGAACCCTTGAGAGACTTCTCAGCCATGAGCTAACTGCCCCCTGGCGGCCAGGAAGAGAAACAGCTCCTCCCCGACTAGGTGGAAGGCTGGCCAGGCACCAAGCATGTGTGTGC
ACTTGTACCTGGTGGTTTCTCTGTTAGCAGTCCATTAGCTCATGCTGAATTATTTTTGCCTTACTTTCTTAAGAAACATTAATTTTATGTATAGTGAGTATATTTTGCATGTTTTAAATTGTAAATGG
AGCTAAGTCCAAGAAAGTACTTGAAGCTCTCTTCCAGCGAGCTTAATTGCGTAATCCCTGTTGTCCTCCAGGGTAAGCTGACACGTCTACATAACTGGTTTTCCACAGGCATCTTCAGTTATTGCTTG
TCAGGTGGACTGTTTTGGATTTAACCATGTAATCCATGGGACCAATTGAGAGTCAGCTACTTTTATAGGCATCAAAGTATTCTCAGACACCTTTAATATCTTTATGGAAACTTAATTTTTGGCCTTTT
ATCAATATGTCATAACAGCATTCTGAAGTCAGACATTGTTAAATTGAGCTATTAAACTAATGAGTTTTATGTAAGTTATATGGTCTTAATTTGGTACTTGTAAATAGCACTAGTTAGACTCTTTAGAA
TACTCCAAGAGTTAGGGCAGCAGAGTGGAGCGATTTAGAAAGAACATTTTAAAACAATCAGTTAATTTACCATGTAAAATTGCTGTAAATGATAATGTGTACAGATTTTCTGTTCAAATATTCAATTG
TAAACTTCTTGTTAAGACTGTTACGTTTCTATTGCTTTTGTATGGGATATTGCAAAAATAAAAAGGAAAGAACCCTCTTTCACTGACTGGGGCTGTTGCCAGGTGGGCCAGCTGCCGTGAGAGCTGAC
ATGTTTGGAGGGTCAGAA

hide sequence

RefSeq Acc Id:

XM_054350815 ⟹ XP_054206790

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	4	1,690,606 - 1,709,384 (-)	NCBI


Protein RefSeqs	NP_001293003	(Get FASTA)	NCBI Sequence Viewer
	NP_001293004	(Get FASTA)	NCBI Sequence Viewer
	NP_006518	(Get FASTA)	NCBI Sequence Viewer
	XP_054206790	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAB97091	(Get FASTA)	NCBI Sequence Viewer
	AAH14908	(Get FASTA)	NCBI Sequence Viewer
	AAH15703	(Get FASTA)	NCBI Sequence Viewer
	AAP36101	(Get FASTA)	NCBI Sequence Viewer
	BAG38003	(Get FASTA)	NCBI Sequence Viewer
	BAG52407	(Get FASTA)	NCBI Sequence Viewer
	BAG52687	(Get FASTA)	NCBI Sequence Viewer
	BAG52851	(Get FASTA)	NCBI Sequence Viewer
	BAG62479	(Get FASTA)	NCBI Sequence Viewer
	CAA94918	(Get FASTA)	NCBI Sequence Viewer
	EAW82576	(Get FASTA)	NCBI Sequence Viewer
	EAW82577	(Get FASTA)	NCBI Sequence Viewer
	EAW82578	(Get FASTA)	NCBI Sequence Viewer
	EAW82579	(Get FASTA)	NCBI Sequence Viewer
	EAW82580	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000406322
	ENSP00000406322.2
	ENSP00000417686
	ENSP00000417686.1
	ENSP00000418658
GenBank Protein	Q14493	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_006518 ⟸ NM_006527
- Peptide Label:	isoform 1
- UniProtKB:	B3KRJ5 (UniProtKB/Swiss-Prot), Q14493 (UniProtKB/Swiss-Prot), B3KST9 (UniProtKB/TrEMBL), Q53XR2 (UniProtKB/TrEMBL), D3DVP7 (UniProtKB/TrEMBL)
- Sequence:	show sequence MACRPRSPPRHQSRCDGDASPPSPARWSLGRKRRADGRRWRPEDAEEAEHRGAERRPESFTTPEGPKPRSRCSDWASAVEEDEMRTRVNKEMARYKRKLLINDFGRERKSSSGSSDSKESMSTVPADF ETDESVLMRRQKQINYGKNTIAYDRYIKEVPRHLRQPGIHPKTPNKFKKYSRRSWDQQIKLWKVALHFWDPPAEEGCDLQEIHPVDLESAESSSEPQTSSQDDFDVYSGTPTKVRHMDSQVEDEFDLE ACLTEPLRDFSAMS hide sequence

RefSeq Acc Id:	NP_001293004 ⟸ NM_001306075
- Peptide Label:	isoform 3
- UniProtKB:	B3KST9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MACRPRSPPRHQSRCDGDASFTTPEGPKPRSRCSDWASAVEEDEMRTRVNKEMARYKRKLLIND FGRERKSSSGSSDSKESMSTVPADFETDESVLMRRQKQINYGKNTIAYDRYIKEVPRHLRQPGIHPKTPNKFKKYSRRSWDQQIKLWKVALHFWDPPAEEGCDLQEIHPVDLESAESSSEPQTSSQDD FDVYSGTPTKVRHMDSQVEDEFDLEACLTEPLRDFSAMS hide sequence

RefSeq Acc Id:	NP_001293003 ⟸ NM_001306074
- Peptide Label:	isoform 2
- UniProtKB:	B4DUW7 (UniProtKB/TrEMBL), E7EUV9 (UniProtKB/TrEMBL)
- Sequence:	show sequence MACRPRSPPRHQSRCDGDASPPSPARWSLGRKRRADGRRWRPEDAEEAEHRGAERRPERYKRKL LINDFGRERKSSSGSSDSKESMSTVPADFETDESVLMRRQKQINYGKNTIAYDRYIKEVPRHLRQPGIHPKTPNKFKKYSRRSWDQQIKLWKVALHFWDPPAEEGCDLQEIHPVDLESAESSSEPQTS SQDDFDVYSGTPTKVRHMDSQVEDEFDLEACLTEPLRDFSAMS hide sequence

Ensembl Acc Id:

ENSP00000406322 ⟸ ENST00000429429

Ensembl Acc Id:

ENSP00000417359 ⟸ ENST00000480936

Protein Domains

Histone RNA hairpin-binding protein RNA-binding

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q14493-F1-model_v2	AlphaFold	Q14493	1-270	view protein structure

RGD ID:

6814730

Promoter ID:

HG_XEF:5802

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

NM_001004403

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	1,674,796 - 1,675,296 (-)	MPROMDB

RGD ID:

6802604

Promoter ID:

HG_KWN:47668

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:

OTTHUMT00000203176, UC003GDJ.1, UC003GDK.1, UC003GDL.1, UC010IBX.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	4	1,683,756 - 1,684,472 (-)	MPROMDB

RGD ID:

6866836

Promoter ID:

EPDNEW_H6583

Type:

initiation region

Name:

SLBP_1

Description:

stem-loop binding protein

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	4	1,712,319 - 1,712,379	EPDNEW

Database	Acc Id	Source(s)
COSMIC	SLBP	COSMIC
Ensembl Genes	ENSG00000163950	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000429429	ENTREZGENE
	ENST00000429429.6	UniProtKB/Swiss-Prot
	ENST00000488267	ENTREZGENE
	ENST00000489418	ENTREZGENE
	ENST00000489418.6	UniProtKB/Swiss-Prot
Gene3D-CATH	1.10.8.1120	UniProtKB/Swiss-Prot
GTEx	ENSG00000163950	GTEx
HGNC ID	HGNC:10904	ENTREZGENE
Human Proteome Map	SLBP	Human Proteome Map
InterPro	SLBP1/SLBP2	UniProtKB/Swiss-Prot
	SLBP_RNA_bind	UniProtKB/Swiss-Prot
	SLBP_RNA_bind_sf	UniProtKB/Swiss-Prot
KEGG Report	hsa:7884	UniProtKB/Swiss-Prot
NCBI Gene	7884	ENTREZGENE
OMIM	602422	OMIM
PANTHER	HISTONE RNA HAIRPIN-BINDING PROTEIN	UniProtKB/Swiss-Prot
	PTHR17408	UniProtKB/Swiss-Prot
Pfam	SLBP_RNA_bind	UniProtKB/Swiss-Prot
PharmGKB	PA35804	PharmGKB
UniProt	B3KRJ5	ENTREZGENE
	B3KSC5	ENTREZGENE, UniProtKB/TrEMBL
	B3KST9	ENTREZGENE, UniProtKB/TrEMBL
	B4DUW7	ENTREZGENE, UniProtKB/TrEMBL
	D3DVP7	ENTREZGENE
	E7EUV9	ENTREZGENE, UniProtKB/TrEMBL
	F8W8D3_HUMAN	UniProtKB/TrEMBL
	H0YAE8_HUMAN	UniProtKB/TrEMBL
	H7C4H8_HUMAN	UniProtKB/TrEMBL
	Q14493	ENTREZGENE
	Q53XR2	ENTREZGENE, UniProtKB/TrEMBL
	SLBP_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	B3KRJ5	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2023-07-10	SLBP	stem-loop histone mRNA binding protein	SLBP	stem-loop binding protein	Symbol and/or name change	19259463	PROVISIONAL

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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