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Gene: RBM17 (RNA binding motif protein 17) Homo sapiens

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Symbol:

RBM17

Name:

RNA binding motif protein 17

RGD ID:

1322546

HGNC Page

HGNC:16944

Description:

Predicted to enable RNA binding activity. Involved in alternative mRNA splicing, via spliceosome. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

45 kDa-splicing factor; DKFZp686F13131; MGC14439; RNA-binding motif protein 17; SPF45; splicing factor 45; splicing factor 45kDa

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):	Rbm17 (RNA binding motif protein 17)	HGNC	EggNOG, Ensembl, HGNC, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Rattus norvegicus (Norway rat):	Rbm17 (RNA binding motif protein 17)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Chinchilla lanigera (long-tailed chinchilla):	Rbm17 (RNA binding motif protein 17)	NCBI	Ortholog
Pan paniscus (bonobo/pygmy chimpanzee):	RBM17 (RNA binding motif protein 17)	NCBI	Ortholog
Canis lupus familiaris (dog):	RBM17 (RNA binding motif protein 17)	HGNC	EggNOG, Ensembl, HomoloGene, Inparanoid, NCBI, OMA, OrthoDB, OrthoMCL, Panther, Treefam
Ictidomys tridecemlineatus (thirteen-lined ground squirrel):	Rbm17 (RNA binding motif protein 17)	NCBI	Ortholog
Sus scrofa (pig):	RBM17 (RNA binding motif protein 17)	HGNC	EggNOG, Ensembl, Inparanoid, NCBI, OMA, OrthoDB, Panther, Treefam
Chlorocebus sabaeus (green monkey):	RBM17 (RNA binding motif protein 17)	NCBI	Ortholog
Heterocephalus glaber (naked mole-rat):	Rbm17 (RNA binding motif protein 17)	NCBI	Ortholog
Other homologs ²
Rattus norvegicus (Norway rat):	Or12e13b (olfactory receptor family 12 subfamily E member 13B)	HGNC	OMA
Alliance orthologs ³
Rattus norvegicus (Norway rat):	Rbm17 (RNA binding motif protein 17)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Mus musculus (house mouse):	Rbm17 (RNA binding motif protein 17)	Alliance	DIOPT (Ensembl Compara\|HGNC\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Danio rerio (zebrafish):	rbm17 (RNA binding motif protein 17)	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid\|ZFIN)
Caenorhabditis elegans (roundworm):	rbm-17	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Drosophila melanogaster (fruit fly):	Spf45	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus tropicalis (tropical clawed frog):	rbm17	Alliance	DIOPT (Ensembl Compara\|Hieranoid\|InParanoid\|OMA\|OrthoFinder\|OrthoInspector\|PANTHER\|PhylomeDB\|SonicParanoid)
Xenopus laevis (African clawed frog):	rbm17.S	Alliance	DIOPT (Xenbase)
Xenopus laevis (African clawed frog):	rbm17.L	Alliance	DIOPT (Xenbase)

Related Pseudogenes:

RBM17P1 RBM17P2 RBM17P3 RBM17P4

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	10	6,089,034 - 6,117,447 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	6,089,034 - 6,117,457 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	6,130,997 - 6,159,410 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	6,171,013 - 6,198,849 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	6,171,012 - 6,198,845	NCBI
Celera	10	6,060,328 - 6,088,794 (+)	NCBI		Celera
Cytogenetic Map	10	p15.1	NCBI
HuRef	10	6,057,262 - 6,085,729 (+)	NCBI		HuRef
CHM1_1	10	6,131,060 - 6,159,561 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	6,089,199 - 6,117,608 (+)	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)
RBM17	Human	hypoparathyroidism-deafness-renal disease syndrome		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Hypoparathyroidism more ...	ClinVar	PMID:25741868
RBM17	Human	schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBM17	Human	Spinocerebellar Ataxias		EXP		11554173	CTD Direct Evidence: marker/mechanism	CTD	PMID:18337722

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBM17	Human	(+)-schisandrin B	multiple interactions	ISO	Rbm17 (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of RBM17 mRNA]	CTD	PMID:31150632
RBM17	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Rbm17 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of RBM17 mRNA	CTD	PMID:22206623
RBM17	Human	1-chloro-2,4-dinitrobenzene	decreases expression	EXP		6480464	Dinitrochlorobenzene results in decreased expression of RBM17 mRNA	CTD	PMID:17374397
RBM17	Human	17alpha-ethynylestradiol	affects expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Ethinyl Estradiol affects the expression of RBM17 mRNA	CTD	PMID:26865667
RBM17	Human	2,3,7,8-tetrachlorodibenzodioxine	affects expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin affects the expression of RBM17 mRNA	CTD	PMID:22298810
RBM17	Human	3-isobutyl-1-methyl-7H-xanthine	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of RBM17 mRNA	CTD	PMID:28628672
RBM17	Human	4,4'-diaminodiphenylmethane	increases expression	ISO	Rbm17 (Mus musculus)	6480464	4 and 4'-diaminodiphenylmethane results in increased expression of RBM17 mRNA	CTD	PMID:18648102
RBM17	Human	4-(ethoxymethylene)-2-phenyloxazol-5-one	decreases expression	EXP		6480464	Oxazolone results in decreased expression of RBM17 mRNA	CTD	PMID:17374397
RBM17	Human	antirheumatic drug	increases expression	EXP		6480464	Antirheumatic Agents results in increased expression of RBM17 mRNA	CTD	PMID:24449571
RBM17	Human	aristolochic acid A	decreases expression	EXP		6480464	aristolochic acid I results in decreased expression of RBM17 mRNA	CTD	PMID:33212167
RBM17	Human	Aroclor 1254	decreases expression	ISO	Rbm17 (Mus musculus)	6480464	Chlorodiphenyl (54% Chlorine) results in decreased expression of RBM17 mRNA	CTD	PMID:23650126
RBM17	Human	arsenous acid	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of RBM17 mRNA	CTD	PMID:20458559
RBM17	Human	benzo[a]pyrene	decreases expression	EXP		6480464	Benzo(a)pyrene results in decreased expression of RBM17 mRNA	CTD	PMID:26238291
RBM17	Human	benzo[a]pyrene	increases methylation	EXP		6480464	Benzo(a)pyrene results in increased methylation of RBM17 promoter	CTD	PMID:27901495
RBM17	Human	benzo[a]pyrene	decreases methylation	EXP		6480464	Benzo(a)pyrene results in decreased methylation of RBM17 3' UTR	CTD	PMID:27901495
RBM17	Human	benzo[a]pyrene diol epoxide I	decreases expression	EXP		6480464	7 more ...	CTD	PMID:26238291
RBM17	Human	bisphenol A	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of RBM17 mRNA	CTD	PMID:25181051 more ...
RBM17	Human	bisphenol A	decreases expression	ISO	Rbm17 (Mus musculus)	6480464	bisphenol A results in decreased expression of RBM17 mRNA	CTD	PMID:33221593
RBM17	Human	bisphenol A	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of RBM17 mRNA	CTD	PMID:28628672
RBM17	Human	Bisphenol A diglycidyl ether	affects splicing	ISO	Rbm17 (Mus musculus)	6480464	bisphenol A diglycidyl ether affects the splicing of RBM17 mRNA	CTD	PMID:36464114
RBM17	Human	bisphenol AF	affects splicing	ISO	Rbm17 (Mus musculus)	6480464	bisphenol AF affects the splicing of RBM17 mRNA	CTD	PMID:36464114
RBM17	Human	Brodifacoum	decreases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	bromfenacoum results in decreased expression of RBM17 protein	CTD	PMID:28903499
RBM17	Human	cadmium dichloride	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Cadmium Chloride results in increased expression of RBM17 mRNA	CTD	PMID:33453195
RBM17	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of RBM17 protein	CTD	PMID:35688186
RBM17	Human	cannabidiol	decreases expression	EXP		6480464	Cannabidiol results in decreased expression of RBM17 protein	CTD	PMID:34122009
RBM17	Human	carboplatin	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Carboplatin	CTD	PMID:16061639
RBM17	Human	chlorpyrifos	decreases expression	ISO	Rbm17 (Mus musculus)	6480464	Chlorpyrifos results in decreased expression of RBM17 mRNA	CTD	PMID:37019170
RBM17	Human	cisplatin	decreases expression	EXP		6480464	Cisplatin results in decreased expression of RBM17 protein	CTD	PMID:20540955
RBM17	Human	coumarin	decreases phosphorylation	EXP		6480464	coumarin results in decreased phosphorylation of RBM17 protein	CTD	PMID:35688186
RBM17	Human	deoxynivalenol	increases phosphorylation	ISO	Rbm17 (Mus musculus)	6480464	deoxynivalenol results in increased phosphorylation of RBM17 protein	CTD	PMID:23352502
RBM17	Human	dexamethasone	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of RBM17 mRNA	CTD	PMID:28628672
RBM17	Human	diarsenic trioxide	increases expression	EXP		6480464	Arsenic Trioxide results in increased expression of RBM17 mRNA	CTD	PMID:20458559
RBM17	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of RBM17 mRNA	CTD	PMID:37042841
RBM17	Human	doxorubicin	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Doxorubicin	CTD	PMID:16061639
RBM17	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of RBM17 mRNA	CTD	PMID:29803840
RBM17	Human	enzyme inhibitor	multiple interactions	EXP		6480464	[Enzyme Inhibitors results in decreased activity of OGA protein] which results in increased O-linked glycosylation of RBM17 protein	CTD	PMID:23301498
RBM17	Human	etoposide	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Etoposide	CTD	PMID:16061639
RBM17	Human	fenvalerate	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	fenvalerate results in increased expression of RBM17 mRNA	CTD	PMID:30307764
RBM17	Human	flutamide	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Flutamide results in increased expression of RBM17 mRNA	CTD	PMID:24136188
RBM17	Human	folic acid	multiple interactions	ISO	Rbm17 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of RBM17 mRNA	CTD	PMID:22206623
RBM17	Human	FR900359	increases phosphorylation	EXP		6480464	FR900359 results in increased phosphorylation of RBM17 protein	CTD	PMID:37730182
RBM17	Human	gemcitabine	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Gemcitabine	CTD	PMID:16061639
RBM17	Human	genistein	increases expression	EXP		6480464	Genistein results in increased expression of RBM17 mRNA	CTD	PMID:26865667
RBM17	Human	indometacin	multiple interactions	EXP		6480464	[INS protein co-treated with Dexamethasone co-treated with 1-Methyl-3-isobutylxanthine co-treated with Indomethacin co-treated with bisphenol A] results in increased expression of RBM17 mRNA	CTD	PMID:28628672
RBM17	Human	ivermectin	decreases expression	EXP		6480464	Ivermectin results in decreased expression of RBM17 protein	CTD	PMID:32959892
RBM17	Human	lipopolysaccharide	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of RBM17 mRNA	CTD	PMID:35811015
RBM17	Human	lipopolysaccharide	increases expression	EXP		6480464	Lipopolysaccharides results in increased expression of RBM17 mRNA	CTD	PMID:35811015
RBM17	Human	LY 117018	multiple interactions	EXP		6480464	LY 117018 inhibits the reaction [RBM17 protein results in decreased susceptibility to Mitoxantrone]	CTD	PMID:16061639
RBM17	Human	menadione	affects expression	EXP		6480464	Vitamin K 3 affects the expression of RBM17 mRNA	CTD	PMID:20044591
RBM17	Human	mitoxantrone	multiple interactions	EXP		6480464	LY 117018 inhibits the reaction [RBM17 protein results in decreased susceptibility to Mitoxantrone] and Tamoxifen inhibits the reaction [RBM17 protein results in decreased susceptibility to Mitoxantrone]	CTD	PMID:16061639
RBM17	Human	mitoxantrone	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Mitoxantrone	CTD	PMID:16061639
RBM17	Human	nickel sulfate	decreases expression	EXP		6480464	nickel sulfate results in decreased expression of RBM17 mRNA	CTD	PMID:16780908 and PMID:17374397
RBM17	Human	nitrates	multiple interactions	ISO	Rbm17 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of RBM17 mRNA	CTD	PMID:35964746
RBM17	Human	paracetamol	affects expression	ISO	Rbm17 (Mus musculus)	6480464	Acetaminophen affects the expression of RBM17 mRNA	CTD	PMID:17562736
RBM17	Human	pemetrexed	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Pemetrexed	CTD	PMID:16061639
RBM17	Human	phorone	affects expression	ISO	Rbm17 (Rattus norvegicus)	6480464	phorone affects the expression of RBM17 mRNA	CTD	PMID:18198479
RBM17	Human	resveratrol	multiple interactions	EXP		6480464	[Plant Extracts co-treated with Resveratrol] results in increased expression of RBM17 mRNA	CTD	PMID:23557933
RBM17	Human	S-(1,2-dichlorovinyl)-L-cysteine	multiple interactions	EXP		6480464	[S-(1 and 2-dichlorovinyl)cysteine affects the susceptibility to Lipopolysaccharides] which results in increased expression of RBM17 mRNA	CTD	PMID:35811015
RBM17	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of RBM17 mRNA	CTD	PMID:38568856
RBM17	Human	tamoxifen	multiple interactions	EXP		6480464	Tamoxifen inhibits the reaction [RBM17 protein results in decreased susceptibility to Mitoxantrone]	CTD	PMID:16061639
RBM17	Human	temozolomide	decreases expression	EXP		6480464	Temozolomide results in decreased expression of RBM17 mRNA	CTD	PMID:31758290
RBM17	Human	tetrachloromethane	multiple interactions	ISO	Rbm17 (Rattus norvegicus)	6480464	schizandrin B inhibits the reaction [Carbon Tetrachloride results in increased expression of RBM17 mRNA]	CTD	PMID:31150632
RBM17	Human	tetrachloromethane	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Carbon Tetrachloride results in increased expression of RBM17 mRNA	CTD	PMID:31150632
RBM17	Human	thioacetamide	increases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	Thioacetamide results in increased expression of RBM17 mRNA	CTD	PMID:34492290
RBM17	Human	valproic acid	increases expression	EXP		6480464	Valproic Acid results in increased expression of RBM17 mRNA	CTD	PMID:23179753
RBM17	Human	valproic acid	decreases methylation	EXP		6480464	Valproic Acid results in decreased methylation of RBM17 gene	CTD	PMID:29154799
RBM17	Human	vinclozolin	decreases expression	ISO	Rbm17 (Rattus norvegicus)	6480464	vinclozolin results in decreased expression of RBM17 mRNA	CTD	PMID:23555832
RBM17	Human	vincristine	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to Vincristine	CTD	PMID:16061639
RBM17	Human	vinorelbine	decreases response to substance	EXP		6480464	RBM17 protein results in decreased susceptibility to vinorelbine	CTD	PMID:16061639

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)
RBM17	Human	alternative mRNA splicing, via spliceosome	involved_in	IMP		150520179	PMID:17589525	UniProt	PMID:17589525
RBM17	Human	alternative mRNA splicing, via spliceosome	involved_in	IBA	PANTHER:PTN000998924 and UniProtKB:Q96I25	150520179		GO_Central	GO_REF:0000033
RBM17	Human	mRNA cis splicing, via spliceosome	involved_in	IEA	InterPro:IPR040052	150520179		InterPro	GO_REF:0000002
RBM17	Human	mRNA cis splicing, via spliceosome	involved_in	IEA	UniRule:UR001478768	150520179		UniProt	GO_REF:0000104
RBM17	Human	mRNA processing	involved_in	IEA	UniProtKB-KW:KW-0507	150520179		UniProt	GO_REF:0000043
RBM17	Human	mRNA splicing, via spliceosome	involved_in	IEA	UniRule:UR001478768	150520179		UniProt	GO_REF:0000104
RBM17	Human	RNA splicing	involved_in	IEA	UniProtKB-KW:KW-0508	150520179		UniProt	GO_REF:0000043

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)
RBM17	Human	nucleoplasm	located_in	IDA		150520179		HPA	GO_REF:0000052
RBM17	Human	nucleoplasm	located_in	TAS		150520179		Reactome	Reactome:R-HSA-9770129 more ...
RBM17	Human	nucleoplasm	located_in	IEA	UniRule:UR001478768	150520179		UniProt	GO_REF:0000104
RBM17	Human	nucleus	located_in	IEA	UniProtKB-KW:KW-0539	150520179		UniProt	GO_REF:0000043
RBM17	Human	nucleus	located_in	IEA	UniProtKB:Q8JZX4 and ensembl:ENSMUSP00000041831	150520179		Ensembl	GO_REF:0000107
RBM17	Human	nucleus	located_in	IEA	UniProtKB-SubCell:SL-0191	150520179		UniProt	GO_REF:0000044
RBM17	Human	protein-containing complex	part_of	IEA	UniProtKB:Q8JZX4 and ensembl:ENSMUSP00000041831	150520179		Ensembl	GO_REF:0000107
RBM17	Human	spliceosomal complex	part_of	IEA	UniProtKB-KW:KW-0747	150520179		UniProt	GO_REF:0000043
RBM17	Human	spliceosomal complex	part_of	IEA	UniRule:UR001478768	150520179		UniProt	GO_REF:0000104

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)
RBM17	Human	nucleic acid binding	enables	IEA	InterPro:IPR000467 more ...	150520179		InterPro	GO_REF:0000002
RBM17	Human	protein binding	enables	IPI	UniProtKB:O15042 more ...	150520179	PMID:22365833	IntAct	PMID:22365833
RBM17	Human	protein binding	enables	IPI	UniProtKB:O75533-1 more ...	150520179	PMID:17589525	IntAct	PMID:17589525
RBM17	Human	protein binding	enables	IPI	UniProtKB:O75533 and UniProtKB:Q15428	150520179	PMID:28514442	IntAct	PMID:28514442
RBM17	Human	protein binding	enables	IPI	UniProtKB:O43143	150520179	PMID:29021621	IntAct	PMID:29021621
RBM17	Human	protein binding	enables	IPI	UniProtKB:Q9BQA5	150520179	PMID:17577209	UniProt	PMID:17577209
RBM17	Human	protein binding	enables	IPI	UniProtKB:O43143 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
RBM17	Human	protein binding	enables	IPI	UniProtKB:O43143 more ...	150520179	PMID:32296183	IntAct	PMID:32296183
RBM17	Human	protein binding	enables	IPI	UniProtKB:O76024 more ...	150520179	PMID:32814053	IntAct	PMID:32814053
RBM17	Human	protein binding	enables	IPI	UniProtKB:P54253	150520179	PMID:18337722	IntAct	PMID:18337722
RBM17	Human	protein binding	enables	IPI	UniProtKB:Q15428	150520179	PMID:17332742	IntAct	PMID:17332742
RBM17	Human	protein binding	enables	IPI	UniProtKB:P21673 more ...	150520179	PMID:31515488	IntAct	PMID:31515488
RBM17	Human	protein binding	enables	IPI	UniProtKB:P21673 and UniProtKB:Q08379	150520179	PMID:21516116	IntAct	PMID:21516116
RBM17	Human	protein binding	enables	IPI	UniProtKB:Q15637	150520179	PMID:26420826	IntAct	PMID:26420826
RBM17	Human	protein binding	enables	IPI	UniProtKB:P21673	150520179	PMID:16189514	IntAct	PMID:16189514
RBM17	Human	protein binding	enables	IPI	UniProtKB:O75533	150520179	PMID:37219487	IntAct	PMID:37219487
RBM17	Human	protein binding	enables	IPI	UniProtKB:O15042 more ...	150520179	PMID:33961781	IntAct	PMID:33961781
RBM17	Human	protein binding	enables	IPI	UniProtKB:O15042 more ...	150520179	PMID:35271311	IntAct	PMID:35271311
RBM17	Human	RNA binding	enables	IEA	InterPro:IPR000504	150520179		InterPro	GO_REF:0000002
RBM17	Human	RNA binding	enables	IEA	UniRule:UR001478768	150520179		UniProt	GO_REF:0000104
RBM17	Human	RNA binding	enables	IEA	UniProtKB-KW:KW-0694	150520179		UniProt	GO_REF:0000043

Imported Annotations - KEGG (archival)

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBM17	Human	spliceosome pathway		IEA		6907045		KEGG	hsa:03040

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
RBM17	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	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.	Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.	Strausberg RL, etal., Proc Natl Acad Sci U S A. 2002 Dec 24;99(26):16899-903. Epub 2002 Dec 11.

PMID:9731529	PMID:12015979	PMID:12086596	PMID:12234937	PMID:14578179	PMID:14702039	PMID:15146197	PMID:15489334	PMID:16055720	PMID:16061639	PMID:16189514	PMID:16385451
PMID:17081983	PMID:17207965	PMID:17332742	PMID:17577209	PMID:17589525	PMID:17676041	PMID:18029348	PMID:18337722	PMID:18854154	PMID:19322201	PMID:19454010	PMID:20360068
PMID:20410501	PMID:20467437	PMID:21145461	PMID:21319273	PMID:21516116	PMID:21835928	PMID:21873635	PMID:22113938	PMID:22190034	PMID:22365833	PMID:22615491	PMID:22990118
PMID:23184937	PMID:24388013	PMID:24711643	PMID:24858692	PMID:24981860	PMID:25416956	PMID:25798074	PMID:26186194	PMID:26344197	PMID:26420826	PMID:26496610	PMID:26527279
PMID:26673895	PMID:26687479	PMID:26949251	PMID:27591049	PMID:27684187	PMID:27926873	PMID:28431233	PMID:28514442	PMID:28977666	PMID:29021621	PMID:29298432	PMID:29331416
PMID:29395067	PMID:29509190	PMID:29802200	PMID:29844126	PMID:29884807	PMID:30033366	PMID:30179224	PMID:30227940	PMID:30344098	PMID:30404004	PMID:30804502	PMID:30833792
PMID:30884312	PMID:30890647	PMID:31002816	PMID:31010829	PMID:31048545	PMID:31076518	PMID:31091453	PMID:31515488	PMID:31586073	PMID:31980649	PMID:32296183	PMID:32416067
PMID:32497093	PMID:32687490	PMID:32698014	PMID:32707033	PMID:32807901	PMID:32814053	PMID:32971831	PMID:32994395	PMID:33306668	PMID:33545068	PMID:33640491	PMID:33742100
PMID:33838681	PMID:33916271	PMID:33961781	PMID:34079125	PMID:34133714	PMID:34189442	PMID:34225773	PMID:34373451	PMID:34389706	PMID:34728620	PMID:35013218	PMID:35271311
PMID:35781533	PMID:35831314	PMID:35850772	PMID:35906200	PMID:35915203	PMID:35941108	PMID:35944360	PMID:35973513	PMID:35987950	PMID:36114006	PMID:36215168	PMID:36232890
PMID:36244648	PMID:36273042	PMID:36373674	PMID:36520054	PMID:36537216	PMID:36574265	PMID:37219487	PMID:37314180	PMID:37314216	PMID:37689310	PMID:37827155	PMID:38065098
PMID:38113892	PMID:38270169	PMID:38697112	PMID:39250314

RBM17
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	10	6,089,034 - 6,117,447 (+)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	10	6,089,034 - 6,117,457 (+)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	10	6,130,997 - 6,159,410 (+)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	10	6,171,013 - 6,198,849 (+)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	10	6,171,012 - 6,198,845	NCBI
Celera	10	6,060,328 - 6,088,794 (+)	NCBI		Celera
Cytogenetic Map	10	p15.1	NCBI
HuRef	10	6,057,262 - 6,085,729 (+)	NCBI		HuRef
CHM1_1	10	6,131,060 - 6,159,561 (+)	NCBI		CHM1_1
T2T-CHM13v2.0	10	6,089,199 - 6,117,608 (+)	NCBI		T2T-CHM13v2.0

Rbm17
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	2	11,590,250 - 11,608,061 (-)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	2	11,590,248 - 11,608,964 (-)	Ensembl		GRCm39 Ensembl
GRCm38	2	11,585,439 - 11,603,199 (-)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	2	11,585,437 - 11,604,153 (-)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	2	11,507,066 - 11,524,826 (-)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	2	11,503,292 - 11,521,052 (-)	NCBI		MGSCv36	mm8
Celera	2	11,504,598 - 11,522,403 (-)	NCBI		Celera
Cytogenetic Map	2	A1	NCBI
cM Map	2	8.85	NCBI

Rbm17
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	17	71,846,941 - 71,863,834 (+)	NCBI		GRCr8
mRatBN7.2	17	66,937,140 - 66,954,034 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	17	66,937,140 - 66,954,014 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	17	70,422,794 - 70,439,754 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	17	74,251,622 - 74,268,582 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	17	68,294,616 - 68,311,577 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	17	70,586,345 - 70,603,289 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	17	70,586,394 - 70,603,267 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	17	72,288,967 - 72,305,900 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	17	78,139,912 - 78,156,805 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	17	78,150,744 - 78,167,631 (+)	NCBI
Celera	17	66,441,566 - 66,458,459 (+)	NCBI		Celera
Cytogenetic Map	17	q12.2	NCBI

Rbm17
(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_004955421	22,732,757 - 22,746,014 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955421	22,732,757 - 22,745,926 (+)	NCBI	ChiLan1.0	ChiLan1.0

RBM17
(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	8	18,642,158 - 18,670,043 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	10	18,647,503 - 18,675,366 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	10	6,129,708 - 6,157,513 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	10	6,120,488 - 6,140,085 (+)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	10	6,120,488 - 6,140,085 (+)	Ensembl	panpan1.1		panPan2

RBM17
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	2	29,828,720 - 29,853,922 (-)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	2	29,829,210 - 29,853,841 (-)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	2	26,859,360 - 26,884,558 (-)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	2	30,209,817 - 30,235,027 (-)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	2	30,209,024 - 30,234,985 (-)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	2	27,306,882 - 27,332,090 (-)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	2	28,142,934 - 28,168,134 (-)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	2	28,862,842 - 28,888,059 (-)	NCBI		UU_Cfam_GSD_1.0

Rbm17
(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_024409344	32,292,267 - 32,312,839 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936484	8,457,462 - 8,478,309 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936484	8,457,469 - 8,478,030 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

RBM17
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	10	64,885,870 - 64,908,963 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	10	64,886,433 - 64,909,006 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	10	70,943,098 - 70,964,954 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

RBM17
(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	9	6,213,477 - 6,240,945 (+)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	9	6,221,570 - 6,239,678 (+)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666051	11,517,551 - 11,549,925 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Rbm17
(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_004624775	1,041,348 - 1,071,194 (+)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624775	1,041,666 - 1,067,195 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in RBM17
16 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	copy number gain	See cases [RCV000051132]	Chr10:90421..6769994 [GRCh38] Chr10:224406..6811956 [GRCh37] Chr10:126361..6851962 [NCBI36] Chr10:10p15.3-14	pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	copy number gain	See cases [RCV000051107]	Chr10:90421..8442783 [GRCh38] Chr10:224406..8484746 [GRCh37] Chr10:126361..8524752 [NCBI36] Chr10:10p15.3-14	pathogenic
GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	copy number loss	See cases [RCV000052493]	Chr10:69260..6209368 [GRCh38] Chr10:224406..6251331 [GRCh37] Chr10:105200..6291337 [NCBI36] Chr10:10p15.3-15.1	pathogenic
GRCh38/hg38 10p15.3-13(chr10:90421-15569528)x1	copy number loss	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052496]\|See cases [RCV000052496]	Chr10:90421..15569528 [GRCh38] Chr10:224406..15611527 [GRCh37] Chr10:126361..15651533 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	copy number loss	See cases [RCV000052500]	Chr10:4802753..16823491 [GRCh38] Chr10:4844945..16865490 [GRCh37] Chr10:4834945..16905496 [NCBI36] Chr10:10p15.1-13	pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	copy number gain	See cases [RCV000053507]	Chr10:69261..19184047 [GRCh38] Chr10:224406..19472976 [GRCh37] Chr10:105201..19512982 [NCBI36] Chr10:10p15.3-12.31	pathogenic
GRCh38/hg38 10p15.3-12.2(chr10:90221-22567425)x3	copy number gain	See cases [RCV000053508]	Chr10:90221..22567425 [GRCh38] Chr10:224406..22856354 [GRCh37] Chr10:126161..22896360 [NCBI36] Chr10:10p15.3-12.2	pathogenic
GRCh38/hg38 10p15.3-14(chr10:90421-7085100)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053511]\|See cases [RCV000053511]	Chr10:90421..7085100 [GRCh38] Chr10:224406..7127062 [GRCh37] Chr10:126361..7167068 [NCBI36] Chr10:10p15.3-14	pathogenic
GRCh38/hg38 10p15.3-12.1(chr10:90421-29058318)x3	copy number gain	Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053512]\|See cases [RCV000053512]	Chr10:90421..29058318 [GRCh38] Chr10:224406..29347247 [GRCh37] Chr10:126361..29387253 [NCBI36] Chr10:10p15.3-12.1	pathogenic
NM_001145547.1(RBM17):c.-18-1168A>G	single nucleotide variant	Lung cancer [RCV000109220]	Chr10:6095880 [GRCh38] Chr10:6137843 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	copy number gain	See cases [RCV000135340]	Chr10:73856..12815915 [GRCh38] Chr10:119796..12857914 [GRCh37] Chr10:109796..12897920 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	copy number loss	See cases [RCV000135820]	Chr10:4605831..7403265 [GRCh38] Chr10:4648023..7445227 [GRCh37] Chr10:4638023..7485233 [NCBI36] Chr10:10p15.1-14	uncertain significance
GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	copy number gain	See cases [RCV000135533]	Chr10:90421..11713049 [GRCh38] Chr10:224406..11755048 [GRCh37] Chr10:126361..11795054 [NCBI36] Chr10:10p15.3-14	pathogenic\|uncertain significance
GRCh38/hg38 10p15.3-13(chr10:70478-15373336)x3	copy number gain	See cases [RCV000137384]	Chr10:70478..15373336 [GRCh38] Chr10:224406..15415335 [GRCh37] Chr10:106418..15455341 [NCBI36] Chr10:10p15.3-13	uncertain significance
GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	copy number gain	See cases [RCV000138428]	Chr10:90205..26339978 [GRCh38] Chr10:224406..26628907 [GRCh37] Chr10:126145..26668913 [NCBI36] Chr10:10p15.3-12.1	pathogenic
GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	copy number loss	See cases [RCV000138960]	Chr10:70478..13736564 [GRCh38] Chr10:224406..13778564 [GRCh37] Chr10:106418..13818570 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	copy number gain	See cases [RCV000141497]	Chr10:4604734..48074662 [GRCh38] Chr10:4646926..47531169 [GRCh37] Chr10:4636926..47125152 [NCBI36] Chr10:10p15.1-q11.22	benign
GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	copy number gain	See cases [RCV000142292]	Chr10:54086..13205916 [GRCh38] Chr10:100026..13247916 [GRCh37] Chr10:90026..13287922 [NCBI36] Chr10:10p15.3-13	pathogenic
GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	copy number gain	See cases [RCV000142241]	Chr10:1601172..9203729 [GRCh38] Chr10:1643367..9245692 [GRCh37] Chr10:1633367..9285698 [NCBI36] Chr10:10p15.3-14	likely pathogenic
GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	copy number loss	See cases [RCV000143703]	Chr10:54086..19336980 [GRCh38] Chr10:100026..19625909 [GRCh37] Chr10:90026..19665915 [NCBI36] Chr10:10p15.3-12.31	pathogenic\|likely pathogenic
GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	copy number loss	See cases [RCV000239795]	Chr10:2593113..8484746 [GRCh37] Chr10:10p15.3-14	pathogenic
NM_032905.5(RBM17):c.973G>T (p.Glu325Ter)	single nucleotide variant	not provided [RCV003314215]	Chr10:6114091 [GRCh38] Chr10:6156054 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	copy number loss	See cases [RCV000446357]	Chr10:136361..8850609 [GRCh37] Chr10:10p15.3-14	pathogenic
GRCh37/hg19 10p15.3-11.23(chr10:100026-30278548)x3	copy number gain	See cases [RCV000447131]	Chr10:100026..30278548 [GRCh37] Chr10:10p15.3-11.23	pathogenic
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)x3	copy number gain	See cases [RCV000445989]	Chr10:2116123..8856296 [GRCh37] Chr10:10p15.3-14	uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	copy number gain	See cases [RCV000448750]	Chr10:93297..135378918 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	copy number gain	See cases [RCV000511389]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic\|uncertain significance
GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	copy number gain	See cases [RCV000510861]	Chr10:100027..135427143 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	copy number gain	See cases [RCV000510893]	Chr10:100026..50961640 [GRCh37] Chr10:10p15.3-q11.23	pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	copy number loss	See cases [RCV000512541]	Chr10:100026..12842179 [GRCh37] Chr10:10p15.3-13	pathogenic
Single allele	deletion	Hypoparathyroidism, deafness, renal disease syndrome [RCV000735901]	Chr10:4689760..19120882 [GRCh37] Chr10:10p15.1-12.31	pathogenic
GRCh37/hg19 10p15.1(chr10:5670275-6281215)x3	copy number gain	not provided [RCV000737004]	Chr10:5670275..6281215 [GRCh37] Chr10:10p15.1	benign
GRCh37/hg19 10p15.1(chr10:6129874-6358318)x3	copy number gain	not provided [RCV000737005]	Chr10:6129874..6358318 [GRCh37] Chr10:10p15.1	benign
Single allele	duplication	Schizophrenia [RCV000754118]	Chr10:3076972..6208037 [GRCh38] Chr10:10p15.2-15.1	likely pathogenic
GRCh37/hg19 10p15.3-13(chr10:69083-12887271)x3	copy number gain	not provided [RCV000749463]	Chr10:69083..12887271 [GRCh37] Chr10:10p15.3-13	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:73232-135524321)x3	copy number gain	not provided [RCV000749464]	Chr10:73232..135524321 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
GRCh37/hg19 10p15.3-q26.3(chr10:98087-135477883)x3	copy number gain	not provided [RCV000749465]	Chr10:98087..135477883 [GRCh37] Chr10:10p15.3-q26.3	pathogenic
NM_032905.5(RBM17):c.840C>T (p.Gly280=)	single nucleotide variant	not provided [RCV000892617]	Chr10:6112345 [GRCh38] Chr10:6154308 [GRCh37] Chr10:10p15.1	benign
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	copy number gain	not provided [RCV000848062]	Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13	pathogenic
GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	copy number gain	not provided [RCV000848090]	Chr10:100026..15273144 [GRCh37] Chr10:10p15.3-13	pathogenic
NM_032905.5(RBM17):c.508A>G (p.Met170Val)	single nucleotide variant	not specified [RCV004300923]	Chr10:6108688 [GRCh38] Chr10:6150651 [GRCh37] Chr10:10p15.1	uncertain significance
Single allele	deletion	not provided [RCV001391669]	Chr10:120001..6920000 [GRCh37] Chr10:10p15.3-14	pathogenic
GRCh37/hg19 10p15.1(chr10:5952259-6486611)	copy number gain	not specified [RCV002052862]	Chr10:5952259..6486611 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	copy number gain	not provided [RCV001827671]	Chr10:4927427..6653936 [GRCh37] Chr10:10p15.1-14	uncertain significance
GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	copy number gain	not specified [RCV002052861]	Chr10:2116123..8856296 [GRCh37] Chr10:10p15.3-14	uncertain significance
GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	copy number gain	Mosaic supernumerary isodicentric chromosome 10 [RCV001825164]	Chr10:135655..47688677 [GRCh37] Chr10:10p15.3-q11.22	not provided
GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	copy number gain	not provided [RCV002472393]	Chr10:100027..12648149 [GRCh37] Chr10:10p15.3-13	uncertain significance
NM_032905.5(RBM17):c.236T>G (p.Leu79Arg)	single nucleotide variant	not specified [RCV004098276]	Chr10:6101383 [GRCh38] Chr10:6143346 [GRCh37] Chr10:10p15.1	uncertain significance
NM_032905.5(RBM17):c.307A>G (p.Met103Val)	single nucleotide variant	not specified [RCV004079366]	Chr10:6104997 [GRCh38] Chr10:6146960 [GRCh37] Chr10:10p15.1	uncertain significance
NM_032905.5(RBM17):c.1004A>G (p.Lys335Arg)	single nucleotide variant	not specified [RCV004116220]	Chr10:6114122 [GRCh38] Chr10:6156085 [GRCh37] Chr10:10p15.1	uncertain significance
NM_032905.5(RBM17):c.188C>T (p.Ser63Leu)	single nucleotide variant	not specified [RCV004219641]	Chr10:6101335 [GRCh38] Chr10:6143298 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh37/hg19 10p15.1(chr10:5971020-6231793)x3	copy number gain	not specified [RCV003986865]	Chr10:5971020..6231793 [GRCh37] Chr10:10p15.1	uncertain significance
NM_032905.5(RBM17):c.325G>A (p.Glu109Lys)	single nucleotide variant	not specified [RCV004441154]	Chr10:6105015 [GRCh38] Chr10:6146978 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	copy number gain	See cases [RCV004442806]	Chr10:1274308..12045503 [GRCh37] Chr10:10p15.3-14	uncertain significance
NM_032905.5(RBM17):c.557A>G (p.Lys186Arg)	single nucleotide variant	not specified [RCV004441155]	Chr10:6108737 [GRCh38] Chr10:6150700 [GRCh37] Chr10:10p15.1	uncertain significance
NM_032905.5(RBM17):c.321T>A (p.Asp107Glu)	single nucleotide variant	not specified [RCV004660797]	Chr10:6105011 [GRCh38] Chr10:6146974 [GRCh37] Chr10:10p15.1	uncertain significance
NC_000010.11:g.5955208_7871319dup	duplication	not provided [RCV004722369]	Chr10:5955208..7871319 [GRCh38] Chr10:10p15.1-14	uncertain significance
NM_032905.5(RBM17):c.253A>G (p.Ser85Gly)	single nucleotide variant	not specified [RCV004860726]	Chr10:6104943 [GRCh38] Chr10:6146906 [GRCh37] Chr10:10p15.1	uncertain significance
GRCh37/hg19 10p15.3-12.31(chr10:100027-18976780)x3	copy number gain	not provided [RCV004819307]	Chr10:100027..18976780 [GRCh37] Chr10:10p15.3-12.31	pathogenic
GRCh37/hg19 10p15.3-14(chr10:100027-11771902)x3	copy number gain	not provided [RCV004819553]	Chr10:100027..11771902 [GRCh37] Chr10:10p15.3-14	uncertain significance
GRCh37/hg19 10p15.1-13(chr10:3983598-13457969)x3	copy number gain	not provided [RCV004819555]	Chr10:3983598..13457969 [GRCh37] Chr10:10p15.1-13	uncertain significance
GRCh37/hg19 10p15.2-14(chr10:3114108-6616638)x3	copy number gain	not provided [RCV004819554]	Chr10:3114108..6616638 [GRCh37] Chr10:10p15.2-14	uncertain significance
NM_032905.5(RBM17):c.413G>T (p.Arg138Leu)	single nucleotide variant	not specified [RCV004854616]	Chr10:6106146 [GRCh38] Chr10:6148109 [GRCh37] Chr10:10p15.1	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	2219
Count of miRNA genes:	856
Interacting mature miRNAs:	1003
Transcripts:	ENST00000379888, ENST00000418631, ENST00000432931, ENST00000437845, ENST00000446108, ENST00000447032, ENST00000465906, ENST00000467080, ENST00000467214, ENST00000476706, ENST00000481147, ENST00000496762
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
597243656	GWAS1339730_H	blood protein measurement QTL GWAS1339730 (human)		1e-14	blood protein amount (VT:0005416)	blood protein measurement (CMO:0000028)	10	6107074	6107075	Human
597183467	GWAS1279541_H	protein measurement QTL GWAS1279541 (human)		4e-72	protein measurement		10	6095120	6095121	Human
597209390	GWAS1305464_H	lymphocyte count QTL GWAS1305464 (human)		1e-12	lymphocyte count	blood lymphocyte count (CMO:0000031)	10	6092906	6092907	Human
597111657	GWAS1207731_H	soluble interleukin-2 receptor subunit alpha measurement, gestational serum measurement, protein measurement, parental genotype effect measurement QTL GWAS1207731 (human)		4e-09	soluble interleukin-2 receptor subunit alpha measurement, gestational serum measurement, protein measurement, parental genotype effect measurement		10	6107074	6107075	Human

RH122660

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,150,921 - 6,151,268	UniSTS	GRCh37
Build 36	10	6,190,927 - 6,191,274	RGD	NCBI36
Celera	10	6,080,296 - 6,080,644	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,077,231 - 6,077,579	UniSTS
TNG Radiation Hybrid Map	10	3109.0	UniSTS

D10S1520

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,133,420 - 6,133,793	UniSTS	GRCh37
Build 36	10	6,173,426 - 6,173,799	RGD	NCBI36
Celera	10	6,062,799 - 6,063,172	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,059,743 - 6,060,116	UniSTS

A009D35

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,158,057 - 6,158,237	UniSTS	GRCh37
Build 36	10	6,198,063 - 6,198,243	RGD	NCBI36
Celera	10	6,087,429 - 6,087,609	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,084,364 - 6,084,544	UniSTS
GeneMap99-GB4 RH Map	10	58.39	UniSTS
NCBI RH Map	10	114.3	UniSTS

STS-H58939

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,157,013 - 6,157,226	UniSTS	GRCh37
Build 36	10	6,197,019 - 6,197,232	RGD	NCBI36
Celera	10	6,086,389 - 6,086,602	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,083,324 - 6,083,537	UniSTS
GeneMap99-GB4 RH Map	10	56.3	UniSTS
NCBI RH Map	10	130.4	UniSTS

STS-R99346

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	15	35,590,602 - 35,590,789	UniSTS	GRCh37
Build 36	15	33,377,894 - 33,378,081	RGD	NCBI36
Celera	15	12,349,888 - 12,350,075	RGD
Cytogenetic Map	15	q14	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
HuRef	15	12,435,665 - 12,435,852	UniSTS
GeneMap99-GB4 RH Map	15	94.12	UniSTS
NCBI RH Map	15	46.9	UniSTS

RH11159

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,158,528 - 6,158,714	UniSTS	GRCh37
Build 36	10	6,198,534 - 6,198,720	RGD	NCBI36
Celera	10	6,087,900 - 6,088,086	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,084,835 - 6,085,021	UniSTS
GeneMap99-GB4 RH Map	10	49.6	UniSTS
NCBI RH Map	10	149.5	UniSTS

WI-20510

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,158,446 - 6,158,714	UniSTS	GRCh37
Build 36	10	6,198,452 - 6,198,720	RGD	NCBI36
Celera	10	6,087,818 - 6,088,086	RGD
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,084,753 - 6,085,021	UniSTS
GeneMap99-GB4 RH Map	10	54.16	UniSTS
Whitehead-RH Map	10	56.1	UniSTS

G32453

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	10	6,158,057 - 6,158,237	UniSTS	GRCh37
Celera	10	6,087,429 - 6,087,609	UniSTS
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,084,364 - 6,084,544	UniSTS

RH80691

Human Assembly	Chr	Position (strand)	Source	JBrowse
Cytogenetic Map	10	p15.1	UniSTS
HuRef	10	6,083,893 - 6,084,131	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_001145547	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_032905	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XR_001747246	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AA905075	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF542550	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK021863	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK314952	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL157395	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC007871	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC009064	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC039322	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BX648288	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471072	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CN291330	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068268	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CV570433	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HF584289	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	KT584963	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000379888 ⟹ ENSP00000369218

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,089,034 - 6,117,447 (+)	Ensembl

Ensembl Acc Id:

ENST00000418631 ⟹ ENSP00000402303

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,096,910 - 6,110,059 (+)	Ensembl

Ensembl Acc Id:

ENST00000432931 ⟹ ENSP00000408214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,089,071 - 6,110,090 (+)	Ensembl

Ensembl Acc Id:

ENST00000437845 ⟹ ENSP00000395448

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,089,054 - 6,112,321 (+)	Ensembl

Ensembl Acc Id:

ENST00000446108 ⟹ ENSP00000388638

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,089,346 - 6,117,457 (+)	Ensembl

Ensembl Acc Id:

ENST00000447032 ⟹ ENSP00000406024

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,104,971 - 6,112,461 (+)	Ensembl

Ensembl Acc Id:

ENST00000465906

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,113,363 - 6,115,834 (+)	Ensembl

Ensembl Acc Id:

ENST00000467080

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,113,907 - 6,115,834 (+)	Ensembl

Ensembl Acc Id:

ENST00000467214

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,104,946 - 6,106,377 (+)	Ensembl

Ensembl Acc Id:

ENST00000476706

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,112,702 - 6,115,766 (+)	Ensembl

Ensembl Acc Id:

ENST00000481147

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,108,488 - 6,112,423 (+)	Ensembl

Ensembl Acc Id:

ENST00000496762

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	10	6,114,147 - 6,115,872 (+)	Ensembl

RefSeq Acc Id:

NM_001145547 ⟹ NP_001139019

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	6,089,346 - 6,117,447 (+)	NCBI
GRCh37	10	6,130,949 - 6,159,422 (+)	RGD
Celera	10	6,060,328 - 6,088,794 (+)	RGD
HuRef	10	6,057,262 - 6,085,729 (+)	ENTREZGENE
CHM1_1	10	6,131,420 - 6,159,561 (+)	NCBI
T2T-CHM13v2.0	10	6,089,511 - 6,117,608 (+)	NCBI

Sequence:

show sequence

AGTCCCCGCGGCGGGCGCTGGTCTCTCCACGCGGCTGCGGCCCGGTACCCTCCGCCCGCCGCCGCCTCTGGTGACCCTGGCCCTGACCTTCTCCCTCTTCCCTTCCTCCTCCTCCTCCTCATGTCTGC
CTCGGGCTGTTTGGTGCTGAAGAGCGTTTCTTCTCCGTCTCGTGCACCGCATCCTGACGAAATTGTCTGGTCACCAGAACCGAGTAGCCCGTAGCGTGTCCCCCCTGGCCCTGCACGGTTGCCCCTCT
CTGGGGCTCGGAGCCGGTTCCTCCCGGGGTCTCAGAACTGGGAGTGCAGACGTTGGCGTTTCTCAGACTCCGGAGCTGCCCGGGACAGGAATGCAGCCCTAACCCCGGCGTCGCCTCGGCTCGTGCAG
TTTGAGCGGTGTTTCAGCGCTCACGTCCGACCCCAGGCAGTCTTTGAGCTTCGCCTCTTGCCCCGAGAATGTGTAATGATCGGAGAATGCAGGTGGAATGAGGTTCTGCCCCTGCTTGCAGGAGTTTG
GTTTCTGGGAAAGCAGGCGTGAAAACCCAGGCCCGGGTTGATTTGAGAAACGCAAGTGGGGTCTGGAAGGACCTCTCTTGAGAGAGGAGGTCATGCTTATGTTGAGTCTTGAAGCATTAAACTGAAGA
AAAGATGTCCCTGTACGATGACCTAGGAGTGGAGACCAGTGACTCAAAAACAGAAGGCTGGTCCAAAAACTTCAAACTTCTGCAGTCTCAGCTTCAGGTGAAGAAGGCAGCTCTCACTCAGGCAAAGA
GCCAAAGGACGAAACAAAGTACAGTCCTCGCCCCAGTCATTGACCTGAAGCGAGGTGGCTCCTCAGATGACCGGCAAATTGTGGACACTCCACCGCATGTAGCAGCTGGGCTGAAGGATCCTGTTCCC
AGTGGGTTTTCTGCAGGGGAAGTTCTGATTCCCTTAGCTGACGAATATGACCCTATGTTTCCTAATGATTATGAGAAAGTAGTGAAGCGCCAAAGAGAGGAACGACAGAGACAGCGGGAGCTGGAAAG
ACAAAAGGAAATAGAAGAAAGGGAAAAAAGGCGTAAAGACAGACATGAAGCAAGTGGGTTTGCAAGGAGACCAGATCCAGATTCTGATGAAGATGAAGATTATGAGCGAGAGAGGAGGAAAAGAAGTA
TGGGCGGAGCTGCCATTGCCCCACCCACTTCTCTGGTAGAGAAAGACAAAGAGTTACCCCGAGATTTTCCTTATGAAGAGGACTCAAGACCTCGATCACAGTCTTCCAAAGCAGCCATTCCTCCCCCA
GTGTACGAGGAACAAGACAGACCGAGATCTCCAACCGGACCTAGCAACTCCTTCCTCGCTAACATGGGGGGCACGGTGGCGCACAAGATCATGCAGAAGTACGGCTTCCGGGAGGGCCAGGGTCTGGG
GAAGCATGAGCAGGGCCTGAGCACTGCCTTGTCAGTGGAGAAGACCAGCAAGCGTGGCGGCAAGATCATCGTGGGCGACGCCACAGAGAAAGATGCATCCAAGAAGTCAGATTCAAATCCGCTGACTG
AAATACTTAAGTGTCCTACTAAAGTGGTCTTACTAAGGAACATGGTTGGTGCGGGAGAGGTGGATGAAGACTTGGAAGTTGAAACCAAGGAAGAATGTGAAAAATATGGCAAAGTTGGAAAATGTGTG
ATATTTGAAATTCCTGGTGCCCCTGATGATGAAGCAGTACGGATATTTTTAGAATTTGAGAGAGTTGAATCAGCAATTAAAGCGGTTGTTGACTTGAATGGGAGGTATTTTGGTGGACGGGTGGTAAA
AGCATGTTTCTACAATTTGGACAAATTCAGGGTCTTGGATTTGGCAGAACAAGTTTGATTTTAAGAACTAGAGCACGAGTCATCTCCGGTGATCCTTAAATGAACTGCAGGCTGAGAAAAGAAGGAAA
AAGGTCACAGCCTCCATGGCTGTTGCATACCAAGACTCTTGGAAGGACTTCTAAGATATATGTTGATTGATCCCTTTTTTATTTTGTGGTTTTTTAATATAGTATAAAAATCCTTTTAAAAAAACAAC
AATCTGTGTGCCTCTCTGGTTGTTTCTCTTTTTTATTATTACTCCTGAGTTGATGACATTTTTTGTTAGATTTCATGGTAATTCTCAAGTGCTTCAATGATGCAGCATTTCTTGCACTAAAAAAAAAA
AAAAAAAAAAAACTAGAAAGTTTTGGGACATGGGGTTATATTAAATTATTCTTTGTTTTTCTTTTTCTTTTAATAAAGCCTGCAAGTTACTAAATTGTAGTTTCATAAATTCTGTAGTAAAGTATCAT
CTTGGCAGTGTGCCAAAGGTGAAAATGATGCTTTCTCTAACAGAGAAATTCTTAGTGACTCCAGTCGTAGAAAAACGTCTTTACAACCTGAATAAGATTGAAGAATTGTGAACATACCATGGCCTATT
GGATGAATCATTTGCCGTAGGCTAAATCAGACTGTAGGGTTTGTGATGGATTTATGGAGTATGTGGGTATAGAAATCATGAATCTAGCATTTGTTTTCAGAGATTCAAGCATAGTCTTAAGGGTAGAT
CAGAAATGACAAATGAATTCAAAACCTAGCAGGTGCATTGTAAATGTGTGCCCAGTTATGTTTTGGAAATGGCAGTTCCTTGGGGTCATGTTTCTACTGGCAAAATTTGCAATAGTGTTCTATTGTAT
GTAATTTTAAAATTTATAAGATTATCCACGTTGGCCAAGTAAACTGTACTGCCAATAGAATTCTGGAATTGTGAGAAATTGTATCATTGAAGTTCAGTAGGATGTGTGGCTTAAAAATTTATCAGGAC
CACAAAAAAGAAAACAAAAATATTTGGTACTGAGGTTCATTGCCAGGGCAGGAGGTATTTCCAGAAAATACTCATGCCTGTGTTCTGTTCCTTGCTTTCCCAAATACTGCATGTGACTTTCCTAAGCG
GCAGCTGAAAGACTCGAGCCCGTGCTGTCTCCTTTGGTTATTATGACATGAAAGTGTATCAAGAACTCAGCATTTCTTTGCATCCATGGACTTGGTTTGGAGACATAAGGAATATTCTGACCCTTTTT
AAAAAAGGATTTTCTCATGTTTTTATTTAACATAAATAAAAGAATAACATTTTATCTTTTGTGGTATTATTTTATTGAATAAAATTGAGTTTTATGATAAAAGTGCACCTGTTCTGTAAAGTAAGTTG
GGGTTAAGGAATGTGAGGTAAATTACATAATTGAACATTGTGGAAGACAGAATCAAAAGCAGCCCTGGAACTTCAGTTATCTATGGAATTAGGCATACCATTCCTCAAGTGGAAACCATGTTTGTGCT
TACAAGTACCGGAGTGTGCTTGTTTAATTTTAGAAACTAATGGTTCCAACCCACCTTTCATGCATGCATTTATTGTTGTTATGCTTTGTAAAACATTGTTTGCACCTAAATGGGTGGCTTTTCCTAAC
ATTCTCATGGTCAGCAACCAGAGAGTTGCAACCAACTCATACTACTTGATTTCCGTTCGCATGAGGACAGCTTGGTGTGTGCCTTTCTCCCCAGTCTTTTATTTTTAAAATAACTGTGTTAATCAGTT
AGTGCTTTATTTATAATGAATTTCTGATAGTCGAATAATTTCTAAATCTCCTGCAAGTTAGTACTTGAGAAATTTGAAATTAATTTTCAATATTAACATTTAAGCTAATATAAAAATTTTAAATTTCA
ATAAAAATTAAAAATTATGTAAGCTACAA

hide sequence

RefSeq Acc Id:

NM_032905 ⟹ NP_116294

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	6,089,034 - 6,117,447 (+)	NCBI
GRCh37	10	6,130,949 - 6,159,422 (+)	RGD
Build 36	10	6,171,013 - 6,198,849 (+)	NCBI Archive
Celera	10	6,060,328 - 6,088,794 (+)	RGD
HuRef	10	6,057,262 - 6,085,729 (+)	ENTREZGENE
CHM1_1	10	6,131,060 - 6,159,561 (+)	NCBI
T2T-CHM13v2.0	10	6,089,199 - 6,117,608 (+)	NCBI

Sequence:

show sequence

AGCCCGCGCTCCCTGACCCCGCGCCGCCGAGCGCCCTGAGGACTCAGCGAAGGGTGGGCGCCGC
CGAGGCCTCCTGCCGCTGGCGGGTTTCCGCGGAGTGCCGCCCGGCTCCGCTCTGCCGCCGGCGCGGCTCATGGGCAGAGTCGGCCGGGCGGGCCGGCATTAAACTGAAGAAAAGATGTCCCTGTACGA
TGACCTAGGAGTGGAGACCAGTGACTCAAAAACAGAAGGCTGGTCCAAAAACTTCAAACTTCTGCAGTCTCAGCTTCAGGTGAAGAAGGCAGCTCTCACTCAGGCAAAGAGCCAAAGGACGAAACAAA
GTACAGTCCTCGCCCCAGTCATTGACCTGAAGCGAGGTGGCTCCTCAGATGACCGGCAAATTGTGGACACTCCACCGCATGTAGCAGCTGGGCTGAAGGATCCTGTTCCCAGTGGGTTTTCTGCAGGG
GAAGTTCTGATTCCCTTAGCTGACGAATATGACCCTATGTTTCCTAATGATTATGAGAAAGTAGTGAAGCGCCAAAGAGAGGAACGACAGAGACAGCGGGAGCTGGAAAGACAAAAGGAAATAGAAGA
AAGGGAAAAAAGGCGTAAAGACAGACATGAAGCAAGTGGGTTTGCAAGGAGACCAGATCCAGATTCTGATGAAGATGAAGATTATGAGCGAGAGAGGAGGAAAAGAAGTATGGGCGGAGCTGCCATTG
CCCCACCCACTTCTCTGGTAGAGAAAGACAAAGAGTTACCCCGAGATTTTCCTTATGAAGAGGACTCAAGACCTCGATCACAGTCTTCCAAAGCAGCCATTCCTCCCCCAGTGTACGAGGAACAAGAC
AGACCGAGATCTCCAACCGGACCTAGCAACTCCTTCCTCGCTAACATGGGGGGCACGGTGGCGCACAAGATCATGCAGAAGTACGGCTTCCGGGAGGGCCAGGGTCTGGGGAAGCATGAGCAGGGCCT
GAGCACTGCCTTGTCAGTGGAGAAGACCAGCAAGCGTGGCGGCAAGATCATCGTGGGCGACGCCACAGAGAAAGATGCATCCAAGAAGTCAGATTCAAATCCGCTGACTGAAATACTTAAGTGTCCTA
CTAAAGTGGTCTTACTAAGGAACATGGTTGGTGCGGGAGAGGTGGATGAAGACTTGGAAGTTGAAACCAAGGAAGAATGTGAAAAATATGGCAAAGTTGGAAAATGTGTGATATTTGAAATTCCTGGT
GCCCCTGATGATGAAGCAGTACGGATATTTTTAGAATTTGAGAGAGTTGAATCAGCAATTAAAGCGGTTGTTGACTTGAATGGGAGGTATTTTGGTGGACGGGTGGTAAAAGCATGTTTCTACAATTT
GGACAAATTCAGGGTCTTGGATTTGGCAGAACAAGTTTGATTTTAAGAACTAGAGCACGAGTCATCTCCGGTGATCCTTAAATGAACTGCAGGCTGAGAAAAGAAGGAAAAAGGTCACAGCCTCCATG
GCTGTTGCATACCAAGACTCTTGGAAGGACTTCTAAGATATATGTTGATTGATCCCTTTTTTATTTTGTGGTTTTTTAATATAGTATAAAAATCCTTTTAAAAAAACAACAATCTGTGTGCCTCTCTG
GTTGTTTCTCTTTTTTATTATTACTCCTGAGTTGATGACATTTTTTGTTAGATTTCATGGTAATTCTCAAGTGCTTCAATGATGCAGCATTTCTTGCACTAAAAAAAAAAAAAAAAAAAAAACTAGAA
AGTTTTGGGACATGGGGTTATATTAAATTATTCTTTGTTTTTCTTTTTCTTTTAATAAAGCCTGCAAGTTACTAAATTGTAGTTTCATAAATTCTGTAGTAAAGTATCATCTTGGCAGTGTGCCAAAG
GTGAAAATGATGCTTTCTCTAACAGAGAAATTCTTAGTGACTCCAGTCGTAGAAAAACGTCTTTACAACCTGAATAAGATTGAAGAATTGTGAACATACCATGGCCTATTGGATGAATCATTTGCCGT
AGGCTAAATCAGACTGTAGGGTTTGTGATGGATTTATGGAGTATGTGGGTATAGAAATCATGAATCTAGCATTTGTTTTCAGAGATTCAAGCATAGTCTTAAGGGTAGATCAGAAATGACAAATGAAT
TCAAAACCTAGCAGGTGCATTGTAAATGTGTGCCCAGTTATGTTTTGGAAATGGCAGTTCCTTGGGGTCATGTTTCTACTGGCAAAATTTGCAATAGTGTTCTATTGTATGTAATTTTAAAATTTATA
AGATTATCCACGTTGGCCAAGTAAACTGTACTGCCAATAGAATTCTGGAATTGTGAGAAATTGTATCATTGAAGTTCAGTAGGATGTGTGGCTTAAAAATTTATCAGGACCACAAAAAAGAAAACAAA
AATATTTGGTACTGAGGTTCATTGCCAGGGCAGGAGGTATTTCCAGAAAATACTCATGCCTGTGTTCTGTTCCTTGCTTTCCCAAATACTGCATGTGACTTTCCTAAGCGGCAGCTGAAAGACTCGAG
CCCGTGCTGTCTCCTTTGGTTATTATGACATGAAAGTGTATCAAGAACTCAGCATTTCTTTGCATCCATGGACTTGGTTTGGAGACATAAGGAATATTCTGACCCTTTTTAAAAAAGGATTTTCTCAT
GTTTTTATTTAACATAAATAAAAGAATAACATTTTATCTTTTGTGGTATTATTTTATTGAATAAAATTGAGTTTTATGATAAAAGTGCACCTGTTCTGTAAAGTAAGTTGGGGTTAAGGAATGTGAGG
TAAATTACATAATTGAACATTGTGGAAGACAGAATCAAAAGCAGCCCTGGAACTTCAGTTATCTATGGAATTAGGCATACCATTCCTCAAGTGGAAACCATGTTTGTGCTTACAAGTACCGGAGTGTG
CTTGTTTAATTTTAGAAACTAATGGTTCCAACCCACCTTTCATGCATGCATTTATTGTTGTTATGCTTTGTAAAACATTGTTTGCACCTAAATGGGTGGCTTTTCCTAACATTCTCATGGTCAGCAAC
CAGAGAGTTGCAACCAACTCATACTACTTGATTTCCGTTCGCATGAGGACAGCTTGGTGTGTGCCTTTCTCCCCAGTCTTTTATTTTTAAAATAACTGTGTTAATCAGTTAGTGCTTTATTTATAATG
AATTTCTGATAGTCGAATAATTTCTAAATCTCCTGCAAGTTAGTACTTGAGAAATTTGAAATTAATTTTCAATATTAACATTTAAGCTAATATAAAAATTTTAAATTTCAATAAAAATTAAAAATTAT
GTAAGCTACAA

hide sequence


Protein RefSeqs	NP_001139019	(Get FASTA)	NCBI Sequence Viewer
	NP_116294	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAH07871	(Get FASTA)	NCBI Sequence Viewer
	AAH09064	(Get FASTA)	NCBI Sequence Viewer
	AAH39322	(Get FASTA)	NCBI Sequence Viewer
	AAQ09533	(Get FASTA)	NCBI Sequence Viewer
	BAG37457	(Get FASTA)	NCBI Sequence Viewer
	CCQ43786	(Get FASTA)	NCBI Sequence Viewer
	EAW86405	(Get FASTA)	NCBI Sequence Viewer
	EAW86406	(Get FASTA)	NCBI Sequence Viewer
	EAW86407	(Get FASTA)	NCBI Sequence Viewer
	EAW86408	(Get FASTA)	NCBI Sequence Viewer
	EAW86409	(Get FASTA)	NCBI Sequence Viewer
	EAW86410	(Get FASTA)	NCBI Sequence Viewer
	EAW86411	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000369218
	ENSP00000369218.4
	ENSP00000388638
	ENSP00000388638.1
GenBank Protein	Q96I25	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_116294 ⟸ NM_032905

- UniProtKB:

Q96GY6 (UniProtKB/Swiss-Prot), Q96I25 (UniProtKB/Swiss-Prot), Q5W009 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRGGSSDDRQIVDTPPHVAAGLKDPVPSGFSAGEVLIPLADEYDPMFPNDYEKVVKRQREERQRQRELERQ
KEIEEREKRRKDRHEASGFARRPDPDSDEDEDYERERRKRSMGGAAIAPPTSLVEKDKELPRDFPYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAHKIMQKYGFREGQGLGK
HEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEILKCPTKVVLLRNMVGAGEVDEDLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFERVESAIKAVVDLNGRYFGGRVVKA
CFYNLDKFRVLDLAEQV

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RefSeq Acc Id:

NP_001139019 ⟸ NM_001145547

- UniProtKB:

Q96GY6 (UniProtKB/Swiss-Prot), Q96I25 (UniProtKB/Swiss-Prot), Q5W009 (UniProtKB/TrEMBL)

- Sequence:

show sequence

MSLYDDLGVETSDSKTEGWSKNFKLLQSQLQVKKAALTQAKSQRTKQSTVLAPVIDLKRGGSSD
DRQIVDTPPHVAAGLKDPVPSGFSAGEVLIPLADEYDPMFPNDYEKVVKRQREERQRQRELERQKEIEEREKRRKDRHEASGFARRPDPDSDEDEDYERERRKRSMGGAAIAPPTSLVEKDKELPRDF
PYEEDSRPRSQSSKAAIPPPVYEEQDRPRSPTGPSNSFLANMGGTVAHKIMQKYGFREGQGLGKHEQGLSTALSVEKTSKRGGKIIVGDATEKDASKKSDSNPLTEILKCPTKVVLLRNMVGAGEVDE
DLEVETKEECEKYGKVGKCVIFEIPGAPDDEAVRIFLEFERVESAIKAVVDLNGRYFGGRVVKACFYNLDKFRVLDLAEQV

hide sequence

Ensembl Acc Id:

ENSP00000395448 ⟸ ENST00000437845

Ensembl Acc Id:

ENSP00000369218 ⟸ ENST00000379888

Ensembl Acc Id:

ENSP00000402303 ⟸ ENST00000418631

Protein Domains

G-patch RRM

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q96I25-F1-model_v2	AlphaFold	Q96I25	1-401	view protein structure

RGD ID:

7216923

Promoter ID:

EPDNEW_H14208

Type:

initiation region

Name:

RBM17_1

Description:

RNA binding motif protein 17

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H14207

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	10	6,089,034 - 6,089,094	EPDNEW

RGD ID:

6788040

Promoter ID:

HG_KWN:8489

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000372795, NM_001145547, NM_032905, OTTHUMT00000046637, OTTHUMT00000046639

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	6,170,761 - 6,171,261 (+)	MPROMDB

RGD ID:

6788041

Promoter ID:

HG_KWN:8493

Type:

Non-CpG

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

K562

Transcripts:

OTTHUMT00000046633, OTTHUMT00000046634, OTTHUMT00000046643, UC001IJC.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	10	6,194,901 - 6,195,401 (+)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	RBM17	COSMIC
Ensembl Genes	ENSG00000134453	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000379888	ENTREZGENE
	ENST00000379888.9	UniProtKB/Swiss-Prot
	ENST00000446108	ENTREZGENE
	ENST00000446108.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.30.70.330	UniProtKB/Swiss-Prot
GTEx	ENSG00000134453	GTEx
HGNC ID	HGNC:16944	ENTREZGENE
Human Proteome Map	RBM17	Human Proteome Map
InterPro	G_patch_dom	UniProtKB/Swiss-Prot
	Nucleotide-bd_a/b_plait_sf	UniProtKB/Swiss-Prot
	RBD_domain_sf	UniProtKB/Swiss-Prot
	RBM17	UniProtKB/Swiss-Prot
	RRM_dom	UniProtKB/Swiss-Prot
	RRM_dom_euk	UniProtKB/Swiss-Prot
	SPF45_RRM	UniProtKB/Swiss-Prot
KEGG Report	hsa:84991	UniProtKB/Swiss-Prot
NCBI Gene	84991	ENTREZGENE
OMIM	606935	OMIM
PANTHER	PTHR13288	UniProtKB/Swiss-Prot
	SPLICING FACTOR 45	UniProtKB/Swiss-Prot
Pfam	G-patch	UniProtKB/Swiss-Prot
	RRM_1	UniProtKB/Swiss-Prot
PharmGKB	PA134860993	PharmGKB
PIRSF	Splicing_factor_SPF45	UniProtKB/Swiss-Prot
PROSITE	G_PATCH	UniProtKB/Swiss-Prot
SMART	G_patch	UniProtKB/Swiss-Prot
	RRM_1	UniProtKB/Swiss-Prot
Superfamily-SCOP	SSF54928	UniProtKB/Swiss-Prot
UniProt	H0Y6J6_HUMAN	UniProtKB/TrEMBL
	L8EAL0_HUMAN	UniProtKB/TrEMBL
	Q5W009	ENTREZGENE, UniProtKB/TrEMBL
	Q5W010_HUMAN	UniProtKB/TrEMBL
	Q5W011_HUMAN	UniProtKB/TrEMBL
	Q5W012_HUMAN	UniProtKB/TrEMBL
	Q96GY6	ENTREZGENE
	Q96I25	ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary	Q96GY6	UniProtKB/Swiss-Prot

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


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


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

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Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Disease Annotations - CTD

Imported Annotations - KEGG (archival)

Imported Human Phenotype Annotations - ClinVar