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Gene: SMG9 (SMG9 nonsense mediated mRNA decay factor) Homo sapiens

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Symbol:

SMG9

Name:

SMG9 nonsense mediated mRNA decay factor

RGD ID:

1606789

HGNC Page

HGNC:25763

Description:

Enables identical protein binding activity. Involved in negative regulation of apoptotic process and nuclear-transcribed mRNA catabolic process, nonsense-mediated decay. Predicted to be located in cytosol. Biomarker of hepatocellular carcinoma.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

C19orf61; DKFZp564H1322; F17127_1; FLJ12886; HBMS; NEDITPO; nonsense-mediated mRNA decay factor SMG9; protein smg-9 homolog; smg-9 homolog, nonsense mediated mRNA decay factor; SMG9, nonsense mediated mRNA decay factor

RGD Orthologs

Alliance Orthologs

More Info

more info ...

Allele / Splice:

See ClinVar data

Latest Assembly:

GRCh38 - Human Genome Assembly GRCh38

Position:

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,727,983 - 43,754,962 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,727,983 - 43,754,962 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,232,135 - 44,259,114 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,927,141 - 48,950,982 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	41,038,878 - 41,062,719 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,667,508 - 40,691,349 (-)	NCBI		HuRef
CHM1_1	19	44,237,404 - 44,261,246 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,550,715 - 46,577,698 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SMG9	Human	hepatocellular carcinoma	severity	IEP		155882446		RGD

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SMG9	Human	autism spectrum disorder		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
SMG9	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:27018474
SMG9	Human	Developmental Disabilities		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868 more ...
SMG9	Human	ethylmalonic encephalopathy		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Ethylmalonic encephalopathy	ClinVar	PMID:28492532
SMG9	Human	genetic disease		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:27018474
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens) more ...	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:25741868
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:32412169
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:25741868 more ...
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:25741868 and PMID:28492532
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Heart and brain malformation syndrome	ClinVar	PMID:31390136
SMG9	Human	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor more ...	ClinVar	PMID:35087184
SMG9	Human	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES		IAGP	(Homo sapiens) and (Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor more ...	ClinVar
SMG9	Human	Neurodevelopmental Disorders		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental abnormality	ClinVar	PMID:31390136
SMG9	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)
SMG9	Human	HEART AND BRAIN MALFORMATION SYNDROME		IAGP		7240710		OMIM
SMG9	Human	NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES		IAGP		7240710		OMIM

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SMG9	Human	1,2-dichloroethane	decreases expression	ISO	Smg9 (Mus musculus)	6480464	ethylene dichloride results in decreased expression of SMG9 mRNA	CTD	PMID:28189721
SMG9	Human	1,2-dimethylhydrazine	multiple interactions	ISO	Smg9 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SMG9 mRNA	CTD	PMID:22206623
SMG9	Human	17beta-estradiol	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Estradiol results in increased expression of SMG9 mRNA	CTD	PMID:32145629
SMG9	Human	2,3,7,8-tetrachlorodibenzodioxine	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Tetrachlorodibenzodioxin results in increased expression of SMG9 mRNA	CTD	PMID:33387578
SMG9	Human	4,4'-sulfonyldiphenol	multiple interactions	EXP		6480464	[bisphenol S co-treated with Fulvestrant] results in increased methylation of SMG9 gene	CTD	PMID:31601247
SMG9	Human	aristolochic acid A	increases expression	EXP		6480464	aristolochic acid I results in increased expression of SMG9 mRNA	CTD	PMID:33212167
SMG9	Human	arsenite(3-)	decreases methylation	EXP		6480464	arsenite results in decreased methylation of SMG9 promoter	CTD	PMID:23974009
SMG9	Human	benzo[a]pyrene	affects methylation	EXP		6480464	Benzo(a)pyrene affects the methylation of SMG9 promoter	CTD	PMID:27901495
SMG9	Human	bis(2-ethylhexyl) phthalate	decreases expression	ISO	Smg9 (Mus musculus)	6480464	Diethylhexyl Phthalate results in decreased expression of SMG9 mRNA and Diethylhexyl Phthalate results in decreased expression of SMG9 protein	CTD	PMID:35716406 and PMID:36356568
SMG9	Human	bisphenol A	affects expression	ISO	Smg9 (Rattus norvegicus)	6480464	bisphenol A affects the expression of SMG9 mRNA	CTD	PMID:25181051
SMG9	Human	bisphenol A	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	bisphenol A results in increased expression of SMG9 mRNA	CTD	PMID:32145629
SMG9	Human	bisphenol A	decreases expression	EXP		6480464	bisphenol A results in decreased expression of SMG9 mRNA	CTD	PMID:29275510
SMG9	Human	bisphenol F	decreases expression	ISO	Smg9 (Mus musculus)	6480464	bisphenol F results in decreased expression of SMG9 mRNA	CTD	PMID:38685157
SMG9	Human	cadmium dichloride	increases expression	EXP		6480464	Cadmium Chloride results in increased expression of SMG9 mRNA	CTD	PMID:38568856
SMG9	Human	caffeine	affects phosphorylation	EXP		6480464	Caffeine affects the phosphorylation of SMG9 protein	CTD	PMID:35688186
SMG9	Human	chlorpyrifos	increases expression	ISO	Smg9 (Mus musculus)	6480464	Chlorpyrifos results in increased expression of SMG9 mRNA	CTD	PMID:37019170
SMG9	Human	cisplatin	multiple interactions	EXP		6480464	[Cisplatin co-treated with jinfukang] results in decreased expression of SMG9 mRNA	CTD	PMID:27392435
SMG9	Human	corosolic acid	increases expression	EXP		6480464	corosolic acid results in increased expression of SMG9 mRNA	CTD	PMID:37939859
SMG9	Human	coumarin	increases phosphorylation	EXP		6480464	coumarin results in increased phosphorylation of SMG9 protein	CTD	PMID:35688186
SMG9	Human	Dibutyl phosphate	affects expression	EXP		6480464	di-n-butylphosphoric acid affects the expression of SMG9 mRNA	CTD	PMID:37042841
SMG9	Human	doxorubicin	decreases expression	EXP		6480464	Doxorubicin results in decreased expression of SMG9 mRNA	CTD	PMID:29803840
SMG9	Human	endosulfan	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Endosulfan results in increased expression of SMG9 mRNA	CTD	PMID:29391264
SMG9	Human	folic acid	multiple interactions	ISO	Smg9 (Mus musculus)	6480464	[1 and 2-Dimethylhydrazine co-treated with Folic Acid] results in decreased expression of SMG9 mRNA	CTD	PMID:22206623
SMG9	Human	FR900359	affects phosphorylation	EXP		6480464	FR900359 affects the phosphorylation of SMG9 protein	CTD	PMID:37730182
SMG9	Human	fulvestrant	multiple interactions	EXP		6480464	[bisphenol S co-treated with Fulvestrant] results in increased methylation of SMG9 gene	CTD	PMID:31601247
SMG9	Human	gentamycin	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Gentamicins results in increased expression of SMG9 mRNA	CTD	PMID:33387578
SMG9	Human	leflunomide	decreases expression	EXP		6480464	leflunomide results in decreased expression of SMG9 mRNA	CTD	PMID:28988120
SMG9	Human	methyl methanesulfonate	increases expression	EXP		6480464	Methyl Methanesulfonate results in increased expression of SMG9 mRNA	CTD	PMID:23649840
SMG9	Human	methylparaben	increases expression	EXP		6480464	methylparaben results in increased expression of SMG9 mRNA	CTD	PMID:31745603
SMG9	Human	N-methyl-4-phenylpyridinium	decreases expression	EXP		6480464	1-Methyl-4-phenylpyridinium results in decreased expression of SMG9 mRNA	CTD	PMID:24810058
SMG9	Human	nitrates	multiple interactions	ISO	Smg9 (Mus musculus)	6480464	[Particulate Matter results in increased abundance of Nitrates] which results in increased expression of SMG9 mRNA	CTD	PMID:35964746
SMG9	Human	paracetamol	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Acetaminophen results in increased expression of SMG9 mRNA	CTD	PMID:33387578
SMG9	Human	paraquat	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Paraquat results in increased expression of SMG9 mRNA	CTD	PMID:32680482
SMG9	Human	perfluorooctane-1-sulfonic acid	multiple interactions	ISO	Smg9 (Mus musculus)	6480464	[perfluorooctane sulfonic acid co-treated with Pectins] results in decreased expression of SMG9 mRNA	CTD	PMID:36331819
SMG9	Human	quercetin	increases expression	EXP		6480464	Quercetin results in increased expression of SMG9 mRNA	CTD	PMID:21632981
SMG9	Human	sodium arsenite	decreases expression	EXP		6480464	sodium arsenite results in decreased expression of SMG9 mRNA and sodium arsenite results in decreased expression of SMG9 protein	CTD	PMID:30528433 and PMID:38568856
SMG9	Human	sodium fluoride	decreases expression	ISO	Smg9 (Mus musculus)	6480464	Sodium Fluoride results in decreased expression of SMG9 protein	CTD	PMID:28918527
SMG9	Human	titanium dioxide	increases expression	ISO	Smg9 (Mus musculus)	6480464	titanium dioxide results in increased expression of SMG9 mRNA	CTD	PMID:29264374
SMG9	Human	trichloroethene	increases expression	ISO	Smg9 (Rattus norvegicus)	6480464	Trichloroethylene results in increased expression of SMG9 mRNA	CTD	PMID:33387578
SMG9	Human	trichostatin A	affects expression	EXP		6480464	trichostatin A affects the expression of SMG9 mRNA	CTD	PMID:28542535
SMG9	Human	triptonide	decreases expression	ISO	Smg9 (Mus musculus)	6480464	triptonide results in decreased expression of SMG9 mRNA	CTD	PMID:33045310
SMG9	Human	urethane	increases expression	EXP		6480464	Urethane results in increased expression of SMG9 mRNA	CTD	PMID:28818685
SMG9	Human	valproic acid	affects expression	EXP		6480464	Valproic Acid affects the expression of SMG9 mRNA	CTD	PMID:25979313
SMG9	Human	valproic acid	decreases expression	EXP		6480464	Valproic Acid results in decreased expression of SMG9 mRNA	CTD	PMID:28001369

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)
SMG9	Human	brain development	involved_in	ISS	UniProtKB:Q9DB90	150520179		UniProt	GO_REF:0000024
SMG9	Human	brain development	involved_in	IEA	UniProtKB:Q9DB90 and ensembl:ENSMUSP00000002280	150520179		Ensembl	GO_REF:0000107
SMG9	Human	eye development	involved_in	IEA	UniProtKB:Q9DB90 and ensembl:ENSMUSP00000002280	150520179		Ensembl	GO_REF:0000107
SMG9	Human	eye development	involved_in	ISS	UniProtKB:Q9DB90	150520179		UniProt	GO_REF:0000024
SMG9	Human	heart development	involved_in	ISS	UniProtKB:Q9DB90	150520179		UniProt	GO_REF:0000024
SMG9	Human	heart development	involved_in	IEA	UniProtKB:Q9DB90 and ensembl:ENSMUSP00000002280	150520179		Ensembl	GO_REF:0000107
SMG9	Human	in utero embryonic development	acts_upstream_of_or_within	IEA	UniProtKB:Q9DB90 and ensembl:ENSMUSP00000002280	150520179		Ensembl	GO_REF:0000107
SMG9	Human	negative regulation of apoptotic process	involved_in	EXP		150520179	PMID:20817927	DisProt	PMID:20817927
SMG9	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IMP		150520179	PMID:19417104	UniProt	PMID:19417104
SMG9	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IEA	InterPro:IPR039177	150520179		InterPro	GO_REF:0000002
SMG9	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IBA	PANTHER:PTN000370520 more ...	150520179		GO_Central	GO_REF:0000033
SMG9	Human	nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	involved_in	IEA	UniProtKB-KW:KW-0866	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)
SMG9	Human	cytosol	located_in	TAS		150520179		Reactome	Reactome:R-HSA-927813 more ...

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)
SMG9	Human	identical protein binding	enables	IPI	UniProtKB:Q9H0W8	150520179	PMID:20817927	IntAct	PMID:20817927
SMG9	Human	protein binding	enables	IPI	UniProtKB:Q96Q15	150520179	PMID:19417104 more ...	UniProt	PMID:19417104 more ...
SMG9	Human	protein binding	enables	IPI	UniProtKB:P36406 more ...	150520179	PMID:25416956	IntAct	PMID:25416956
SMG9	Human	protein binding	enables	IPI	UniProtKB:Q8ND04	150520179	PMID:19417104 more ...	IntAct	PMID:19417104 more ...
SMG9	Human	protein binding	enables	IPI	UniProtKB:Q14147 more ...	150520179	PMID:26841701	UniProt	PMID:26841701
SMG9	Human	protein binding	enables	IPI	UniProtKB:Q14147	150520179	PMID:25220460	UniProt	PMID:25220460
SMG9	Human	protein binding	enables	IPI	UniProtKB:A6NK89 more ...	150520179	PMID:32296183	IntAct	PMID:32296183

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SMG9	Human	Ankle clonus		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Anteverted nares		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Attached earlobe		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Autosomal recessive inheritance		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Axial hypotonia		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Brachycephaly		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Brachydactyly		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Brain atrophy		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Brisk reflexes		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Broad nasal tip		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Camptodactyly of finger		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Cerebellar vermis hypoplasia		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Cerebral atrophy		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Cleft lip		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Congenital onset		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Congenital onset		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Dandy-Walker malformation		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Delayed CNS myelination		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Delayed speech and language development		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Depressed nasal bridge		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Dextrotransposition of the great arteries		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Everted lower lip vermilion		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Frequent falls		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Gastroesophageal reflux		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Global brain atrophy		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Global developmental delay		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Growth delay		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Hand clenching		IAGP		8699517		HPO	MIM:616920
SMG9	Human	High palate		IAGP		8699517		HPO	MIM:619995
SMG9	Human	High, narrow palate		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Hyperactive deep tendon reflexes		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Hypertelorism		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Hypoplasia of the corpus callosum		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Hypotonia		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Infantile onset		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Intellectual disability		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Intention tremor		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Interrupted aortic arch		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Lateral ventricle dilatation		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Limb hypertonia		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Long nose		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Low insertion of columella		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Low-set ears		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Lower limb hypertonia		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Microcephaly		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Microphthalmia		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Narrow forehead		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Pes valgus		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Polyhydramnios		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Posteriorly rotated ears		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Prominent forehead		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Prominent forehead		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Prominent metopic ridge		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Prominent occiput		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Recurrent otitis media		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Sacral dimple		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Scoliosis		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Seizure		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Short stature		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Strabismus		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Thick lower lip vermilion		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Ventricular septal defect		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Ventricular septal defect		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Visual impairment		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Wide anterior fontanel		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Wide nasal bridge		IAGP		8699517		HPO	MIM:619995
SMG9	Human	Wide nasal bridge		IAGP		8699517		HPO	MIM:616920
SMG9	Human	Wide nose		IAGP		8699517		HPO	MIM:619995

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
SMG9	Human	Abnormal cardiovascular system morphology		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	ClinVar	PMID:27018474
SMG9	Human	Abnormal cardiovascular system morphology		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormality of cardiovascular system morphology	ClinVar	PMID:25741868 more ...
SMG9	Human	Abnormal facial shape		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Abnormal morphology of the face	ClinVar	PMID:27018474
SMG9	Human	Abnormal facial shape		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Dysmorphic facies	ClinVar	PMID:25741868 more ...
SMG9	Human	Autistic behavior		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Autism spectrum disorder	ClinVar	PMID:30504930
SMG9	Human	Brainstem dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Malformation of brainstem structures	ClinVar	PMID:27018474
SMG9	Human	Brainstem dysplasia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Brainstem dysplasia	ClinVar	PMID:25741868 more ...
SMG9	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Retarded psychomotor development	ClinVar	PMID:27018474
SMG9	Human	Global developmental delay		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868 more ...
SMG9	Human	Neurodevelopmental abnormality		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Neurodevelopmental abnormality	ClinVar	PMID:31390136
SMG9	Human	Schizophrenia		IAGP	(Homo sapiens)	8554872	ClinVar Annotator: match by term: Schizophrenia	ClinVar	PMID:21681106 and PMID:30208311

#	Reference Title	Reference Citation
1.	SMG9 Serves as an Oncogene to Promote the Tumor Progression via EMT and Wnt/β-Catenin Signaling Pathway in Hepatocellular Carcinoma.	Jin X, etal., Front Pharmacol. 2021 Aug 12;12:701454. doi: 10.3389/fphar.2021.701454. eCollection 2021.
2.	ClinVar Automated Import and Annotation Pipeline	RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3.	Data Import for Chemical-Gene Interactions	RGD automated import pipeline for gene-chemical interactions

PMID:8889548	PMID:11230166	PMID:11256614	PMID:12477932	PMID:14702039	PMID:16344560	PMID:19417104	PMID:20371770	PMID:20817927	PMID:21640080	PMID:21873635	PMID:25002321
PMID:25220460	PMID:25416956	PMID:26496610	PMID:26638075	PMID:26841701	PMID:26972000	PMID:27018474	PMID:28514442	PMID:29395067	PMID:30902786	PMID:30995489	PMID:31091453
PMID:31729466	PMID:31792449	PMID:32296183	PMID:32412169	PMID:32469312	PMID:32513696	PMID:32694731	PMID:33205750	PMID:33961781	PMID:34146907	PMID:34244565	PMID:34672954
PMID:34761517	PMID:35087184	PMID:35321723	PMID:35509820	PMID:35831314	PMID:35944360	PMID:36215168	PMID:36232890	PMID:37223481	PMID:37827155	PMID:39098523

SMG9
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	19	43,727,983 - 43,754,962 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	19	43,727,983 - 43,754,962 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	19	44,232,135 - 44,259,114 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	19	48,927,141 - 48,950,982 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Celera	19	41,038,878 - 41,062,719 (-)	NCBI		Celera
Cytogenetic Map	19	q13.31	NCBI
HuRef	19	40,667,508 - 40,691,349 (-)	NCBI		HuRef
CHM1_1	19	44,237,404 - 44,261,246 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	19	46,550,715 - 46,577,698 (-)	NCBI		T2T-CHM13v2.0

Smg9
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	7	24,099,106 - 24,122,197 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	7	24,099,044 - 24,122,203 (+)	Ensembl		GRCm39 Ensembl
GRCm38	7	24,397,517 - 24,422,777 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	7	24,399,619 - 24,422,778 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	7	25,184,647 - 25,207,796 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	7	24,108,388 - 24,131,537 (+)	NCBI		MGSCv36	mm8
Celera	7	19,024,019 - 19,047,134 (+)	NCBI		Celera
Cytogenetic Map	7	A3	NCBI
cM Map	7	10.54	NCBI

Smg9
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	1	89,116,459 - 89,139,182 (+)	NCBI		GRCr8
mRatBN7.2	1	79,988,540 - 80,011,262 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	1	79,988,612 - 80,011,254 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	1	85,382,535 - 85,404,812 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	1	93,932,398 - 93,954,740 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	1	87,138,346 - 87,160,623 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	1	81,259,450 - 81,282,893 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	1	81,260,548 - 81,282,887 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	1	82,522,701 - 82,545,409 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	1	79,643,483 - 79,665,871 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
RGSC_v3.1	1	79,721,593 - 79,743,981 (+)	NCBI
Celera	1	74,443,398 - 74,465,698 (+)	NCBI		Celera
Cytogenetic Map	1	q21	NCBI

Smg9
(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_004955555	1,459,451 - 1,481,411 (-)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955555	1,463,031 - 1,481,411 (-)	NCBI	ChiLan1.0	ChiLan1.0

SMG9
(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	20	49,893,534 - 49,917,912 (-)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	19	51,766,169 - 51,790,323 (-)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	19	40,679,952 - 40,704,104 (-)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	19	49,285,796 - 49,309,980 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	19	49,285,796 - 49,309,980 (-)	Ensembl	panpan1.1		panPan2

SMG9
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	1	111,416,396 - 111,438,069 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	1	111,416,624 - 111,435,575 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	1	110,896,422 - 110,918,120 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	1	111,989,720 - 112,011,420 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	1	111,989,712 - 112,008,913 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	1	111,614,917 - 111,634,006 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	1	111,248,775 - 111,270,459 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	1	112,132,811 - 112,154,512 (+)	NCBI		UU_Cfam_GSD_1.0

Smg9
(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_024409349	16,561,128 - 16,581,751 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936706	908,867 - 929,305 (-)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936706	908,471 - 929,075 (-)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

SMG9
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	6	50,551,057 - 50,569,697 (-)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	6	50,550,743 - 50,569,753 (-)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1
Sscrofa10.2	6	46,411,314 - 46,430,619 (-)	NCBI	Sscrofa10.2	Sscrofa10.2	susScr3

SMG9
(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	6	37,253,023 - 37,277,536 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
ChlSab1.1 Ensembl	6	37,250,791 - 37,277,557 (-)	Ensembl	ChlSab1.1	ChlSab1.1 Ensembl	chlSab2
Vero_WHO_p1.0	NW_023666073	16,797,161 - 16,821,699 (-)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Smg9
(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_004624907	1,237,451 - 1,255,586 (-)	Ensembl	HetGla_female_1.0	HetGla_female_1.0 Ensembl	hetGla2
HetGla 1.0	NW_004624907	1,237,658 - 1,255,589 (-)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants in SMG9
99 total Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 19q13.31(chr19:43338231-43853163)x3	copy number gain	See cases [RCV000054151]	Chr19:43338231..43853163 [GRCh38] Chr19:43842383..44357315 [GRCh37] Chr19:48534223..49049155 [NCBI36] Chr19:19q13.31	uncertain significance
GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	copy number gain	See cases [RCV000133888]	Chr19:11227942..44626354 [GRCh38] Chr19:11338618..45129651 [GRCh37] Chr19:11199618..49821491 [NCBI36] Chr19:19p13.2-q13.31	pathogenic
GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	copy number loss	See cases [RCV000240182]	Chr19:43013365..47241534 [GRCh37] Chr19:19q13.2-13.32	pathogenic
NM_019108.4(SMG9):c.520_521del (p.Pro174fs)	deletion	Global developmental delay [RCV000210059]\|Heart and brain malformation syndrome [RCV000210947]	Chr19:43747509..43747510 [GRCh38] Chr19:44251661..44251662 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic
NM_019108.4(SMG9):c.701+4A>G	single nucleotide variant	Global developmental delay [RCV000210060]\|Heart and brain malformation syndrome [RCV000210951]\|not provided [RCV003137803]	Chr19:43744768 [GRCh38] Chr19:44248920 [GRCh37] Chr19:19q13.31	pathogenic\|likely pathogenic\|uncertain significance
NM_019108.4(SMG9):c.193C>T (p.Pro65Ser)	single nucleotide variant	not provided [RCV003314874]	Chr19:43748010 [GRCh38] Chr19:44252162 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	copy number gain	See cases [RCV000511289]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic\|uncertain significance
NM_019108.4(SMG9):c.1235A>G (p.Asn412Ser)	single nucleotide variant	not provided [RCV003318140]	Chr19:43733428 [GRCh38] Chr19:44237580 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.458G>T (p.Gly153Val)	single nucleotide variant	Inborn genetic diseases [RCV003260335]	Chr19:43747665 [GRCh38] Chr19:44251817 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1249C>T (p.Leu417Phe)	single nucleotide variant	Inborn genetic diseases [RCV000624645]	Chr19:43733414 [GRCh38] Chr19:44237566 [GRCh37] Chr19:19q13.31	uncertain significance
GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	copy number gain	See cases [RCV000512296]	Chr19:260912..58956888 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:260912-59097160)x3	copy number gain	not provided [RCV000752444]	Chr19:260912..59097160 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
GRCh37/hg19 19p13.3-q13.43(chr19:68029-59110290)x3	copy number gain	not provided [RCV000752439]	Chr19:68029..59110290 [GRCh37] Chr19:19p13.3-q13.43	pathogenic
Single allele	duplication	Schizophrenia [RCV000754211]	Chr19:41608672..44315856 [GRCh38] Chr19:19q13.2-13.31	likely pathogenic
NM_019108.4(SMG9):c.1154G>A (p.Arg385Gln)	single nucleotide variant	Heart and brain malformation syndrome [RCV002501407]\|not provided [RCV000884151]	Chr19:43733682 [GRCh38] Chr19:44237834 [GRCh37] Chr19:19q13.31	benign\|likely benign
NM_019108.4(SMG9):c.1551C>T (p.Arg517=)	single nucleotide variant	not provided [RCV000902498]	Chr19:43731608 [GRCh38] Chr19:44235760 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.381T>A (p.Pro127=)	single nucleotide variant	not provided [RCV000975278]	Chr19:43747742 [GRCh38] Chr19:44251894 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.354C>G (p.Thr118=)	single nucleotide variant	not provided [RCV000943254]	Chr19:43747769 [GRCh38] Chr19:44251921 [GRCh37] Chr19:19q13.31	benign
NM_019108.4(SMG9):c.377C>T (p.Pro126Leu)	single nucleotide variant	not provided [RCV000906322]	Chr19:43747746 [GRCh38] Chr19:44251898 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.159C>T (p.Ser53=)	single nucleotide variant	not provided [RCV000901472]	Chr19:43748044 [GRCh38] Chr19:44252196 [GRCh37] Chr19:19q13.31	benign
NM_019108.4(SMG9):c.588+5C>T	single nucleotide variant	not provided [RCV000947968]	Chr19:43747437 [GRCh38] Chr19:44251589 [GRCh37] Chr19:19q13.31	benign
NM_019108.4(SMG9):c.22C>T (p.Gln8Ter)	single nucleotide variant	not provided [RCV003314845]	Chr19:43750720 [GRCh38] Chr19:44254872 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_019108.4(SMG9):c.366C>T (p.Thr122=)	single nucleotide variant	not provided [RCV000918510]	Chr19:43747757 [GRCh38] Chr19:44251909 [GRCh37] Chr19:19q13.31	likely benign
GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	copy number gain	not provided [RCV000845733]	Chr19:28271106..49213832 [GRCh37] Chr19:19q11-13.33	pathogenic
NM_019108.4(SMG9):c.939G>A (p.Thr313=)	single nucleotide variant	not provided [RCV000914679]	Chr19:43737653 [GRCh38] Chr19:44241805 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.996G>T (p.Arg332Ser)	single nucleotide variant	Heart and brain malformation syndrome [RCV004813458]	Chr19:43734495 [GRCh38] Chr19:44238647 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.658G>A (p.Val220Ile)	single nucleotide variant	Inborn genetic diseases [RCV004333274]\|not provided [RCV003318141]	Chr19:43744815 [GRCh38] Chr19:44248967 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.588+7A>C	single nucleotide variant	not provided [RCV000900339]	Chr19:43747435 [GRCh38] Chr19:44251587 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1290G>A (p.Leu430=)	single nucleotide variant	not provided [RCV000886052]	Chr19:43733373 [GRCh38] Chr19:44237525 [GRCh37] Chr19:19q13.31	benign\|likely benign
NM_019108.4(SMG9):c.435T>C (p.Pro145=)	single nucleotide variant	not provided [RCV000919476]	Chr19:43747688 [GRCh38] Chr19:44251840 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.226-5C>T	single nucleotide variant	not provided [RCV000932741]	Chr19:43747902 [GRCh38] Chr19:44252054 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1062A>C (p.Ser354=)	single nucleotide variant	not provided [RCV000901699]	Chr19:43734429 [GRCh38] Chr19:44238581 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.390T>A (p.Pro130=)	single nucleotide variant	not provided [RCV000982975]	Chr19:43747733 [GRCh38] Chr19:44251885 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.786A>G (p.Gln262=)	single nucleotide variant	not provided [RCV000911810]	Chr19:43740134 [GRCh38] Chr19:44244286 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.336C>T (p.Ala112=)	single nucleotide variant	not provided [RCV000911237]	Chr19:43747787 [GRCh38] Chr19:44251939 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1177C>T (p.Gln393Ter)	single nucleotide variant	Heart and brain malformation syndrome [RCV003152621]\|Neurodevelopmental abnormality [RCV001264652]	Chr19:43733659 [GRCh38] Chr19:44237811 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.610dup (p.Val204fs)	duplication	not provided [RCV001268562]	Chr19:43744862..43744863 [GRCh38] Chr19:44249014..44249015 [GRCh37] Chr19:19q13.31	likely pathogenic
NM_019108.4(SMG9):c.701+46T>C	single nucleotide variant	Heart and brain malformation syndrome [RCV001807829]\|not provided [RCV004717861]	Chr19:43744726 [GRCh38] Chr19:44248878 [GRCh37] Chr19:19q13.31	benign
NM_019108.4(SMG9):c.947A>G (p.His316Arg)	single nucleotide variant	Autism spectrum disorder [RCV001291442]	Chr19:43737645 [GRCh38] Chr19:44241797 [GRCh37] Chr19:19q13.31	association
NM_019108.4(SMG9):c.1211-2A>G	single nucleotide variant	Heart and brain malformation syndrome [RCV001335029]	Chr19:43733454 [GRCh38] Chr19:44237606 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.662T>C (p.Met221Thr)	single nucleotide variant	Heart and brain malformation syndrome [RCV001329718]	Chr19:43744811 [GRCh38] Chr19:44248963 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.726C>T (p.Ser242=)	single nucleotide variant	not provided [RCV004809319]	Chr19:43740194 [GRCh38] Chr19:44244346 [GRCh37] Chr19:19q13.31	likely benign
NC_000019.9:g.(?_44011002)_(45213778_?)dup	duplication	Ethylmalonic encephalopathy [RCV003116731]	Chr19:44011002..45213778 [GRCh37] Chr19:19q13.31-13.32	uncertain significance
NM_019108.4(SMG9):c.551T>C (p.Val184Ala)	single nucleotide variant	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV002274864]	Chr19:43747479 [GRCh38] Chr19:44251631 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.251C>A (p.Ala84Asp)	single nucleotide variant	Inborn genetic diseases [RCV003285060]	Chr19:43747872 [GRCh38] Chr19:44252024 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.530T>C (p.Met177Thr)	single nucleotide variant	Inborn genetic diseases [RCV003012913]	Chr19:43747500 [GRCh38] Chr19:44251652 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.308C>T (p.Pro103Leu)	single nucleotide variant	Inborn genetic diseases [RCV002879723]	Chr19:43747815 [GRCh38] Chr19:44251967 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1124G>A (p.Arg375His)	single nucleotide variant	Inborn genetic diseases [RCV002992696]	Chr19:43733712 [GRCh38] Chr19:44237864 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1067G>T (p.Gly356Val)	single nucleotide variant	Inborn genetic diseases [RCV002990218]	Chr19:43734424 [GRCh38] Chr19:44238576 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.133T>C (p.Trp45Arg)	single nucleotide variant	Inborn genetic diseases [RCV002689329]	Chr19:43750609 [GRCh38] Chr19:44254761 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.150+3G>A	single nucleotide variant	Inborn genetic diseases [RCV002687817]	Chr19:43750589 [GRCh38] Chr19:44254741 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.139A>G (p.Arg47Gly)	single nucleotide variant	Inborn genetic diseases [RCV002884824]	Chr19:43750603 [GRCh38] Chr19:44254755 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)	single nucleotide variant	Inborn genetic diseases [RCV002692178]	Chr19:43740133 [GRCh38] Chr19:44244285 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.365C>A (p.Thr122Asn)	single nucleotide variant	Inborn genetic diseases [RCV002713741]	Chr19:43747758 [GRCh38] Chr19:44251910 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.382G>A (p.Ala128Thr)	single nucleotide variant	Inborn genetic diseases [RCV002645316]	Chr19:43747741 [GRCh38] Chr19:44251893 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1144C>T (p.Arg382Trp)	single nucleotide variant	Inborn genetic diseases [RCV002645305]	Chr19:43733692 [GRCh38] Chr19:44237844 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.226-3T>C	single nucleotide variant	Inborn genetic diseases [RCV002712597]	Chr19:43747900 [GRCh38] Chr19:44252052 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.247A>G (p.Thr83Ala)	single nucleotide variant	Inborn genetic diseases [RCV002802309]	Chr19:43747876 [GRCh38] Chr19:44252028 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.518C>T (p.Pro173Leu)	single nucleotide variant	Inborn genetic diseases [RCV002986837]	Chr19:43747512 [GRCh38] Chr19:44251664 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1352G>A (p.Ser451Asn)	single nucleotide variant	Inborn genetic diseases [RCV002719544]	Chr19:43732990 [GRCh38] Chr19:44237142 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.892A>G (p.Thr298Ala)	single nucleotide variant	Inborn genetic diseases [RCV002718010]	Chr19:43738139 [GRCh38] Chr19:44242291 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.527G>C (p.Arg176Pro)	single nucleotide variant	Inborn genetic diseases [RCV002722758]	Chr19:43747503 [GRCh38] Chr19:44251655 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.49C>T (p.Arg17Trp)	single nucleotide variant	Inborn genetic diseases [RCV003217732]	Chr19:43750693 [GRCh38] Chr19:44254845 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.106G>A (p.Gly36Ser)	single nucleotide variant	not provided [RCV003138538]	Chr19:43750636 [GRCh38] Chr19:44254788 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.109C>T (p.Arg37Trp)	single nucleotide variant	not provided [RCV003138539]	Chr19:43750633 [GRCh38] Chr19:44254785 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.611T>A (p.Val204Glu)	single nucleotide variant	Heart and brain malformation syndrome [RCV004764858]\|not provided [RCV003138540]	Chr19:43744862 [GRCh38] Chr19:44249014 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.196A>G (p.Ile66Val)	single nucleotide variant	Inborn genetic diseases [RCV003178228]\|not specified [RCV004690394]	Chr19:43748007 [GRCh38] Chr19:44252159 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.490C>T (p.Pro164Ser)	single nucleotide variant	Heart and brain malformation syndrome [RCV003338048]	Chr19:43747633 [GRCh38] Chr19:44251785 [GRCh37] Chr19:19q13.31	uncertain significance
NC_000019.9:g.(?_44232134)_(44259115_?)del	deletion	Heart and brain malformation syndrome [RCV003493331]	Chr19:44232134..44259115 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.1508G>C (p.Trp503Ser)	single nucleotide variant	Heart and brain malformation syndrome [RCV003756641]	Chr19:43731651 [GRCh38] Chr19:44235803 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.1244C>T (p.Pro415Leu)	single nucleotide variant	Inborn genetic diseases [RCV004968579]\|not provided [RCV003993035]	Chr19:43733419 [GRCh38] Chr19:44237571 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1071C>T (p.Ser357=)	single nucleotide variant	SMG9-related disorder [RCV003914752]	Chr19:43734420 [GRCh38] Chr19:44238572 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1464G>A (p.Thr488=)	single nucleotide variant	SMG9-related disorder [RCV003902200]	Chr19:43732878 [GRCh38] Chr19:44237030 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.585C>T (p.Ile195=)	single nucleotide variant	SMG9-related disorder [RCV003961576]	Chr19:43747445 [GRCh38] Chr19:44251597 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1275G>A (p.Glu425=)	single nucleotide variant	SMG9-related disorder [RCV003952165]	Chr19:43733388 [GRCh38] Chr19:44237540 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1209G>A (p.Lys403=)	single nucleotide variant	SMG9-related disorder [RCV003943998]	Chr19:43733627 [GRCh38] Chr19:44237779 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1102+9C>A	single nucleotide variant	SMG9-related disorder [RCV003957353]	Chr19:43734380 [GRCh38] Chr19:44238532 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.588+10G>A	single nucleotide variant	SMG9-related disorder [RCV003944547]	Chr19:43747432 [GRCh38] Chr19:44251584 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1047C>T (p.His349=)	single nucleotide variant	SMG9-related disorder [RCV003914549]	Chr19:43734444 [GRCh38] Chr19:44238596 [GRCh37] Chr19:19q13.31	benign
NM_019108.4(SMG9):c.362G>T (p.Gly121Val)	single nucleotide variant	Inborn genetic diseases [RCV004461936]	Chr19:43747761 [GRCh38] Chr19:44251913 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.18del (p.His6fs)	deletion	not provided [RCV003993426]	Chr19:43750724 [GRCh38] Chr19:44254876 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.110G>A (p.Arg37Gln)	single nucleotide variant	Inborn genetic diseases [RCV004461930]	Chr19:43750632 [GRCh38] Chr19:44254784 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1379A>G (p.Tyr460Cys)	single nucleotide variant	Inborn genetic diseases [RCV004461932]	Chr19:43732963 [GRCh38] Chr19:44237115 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.248C>T (p.Thr83Ile)	single nucleotide variant	Inborn genetic diseases [RCV004461935]	Chr19:43747875 [GRCh38] Chr19:44252027 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1258G>C (p.Asp420His)	single nucleotide variant	Inborn genetic diseases [RCV004461931]	Chr19:43733405 [GRCh38] Chr19:44237557 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1420C>T (p.Arg474Trp)	single nucleotide variant	Inborn genetic diseases [RCV004461933]	Chr19:43732922 [GRCh38] Chr19:44237074 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1502G>A (p.Arg501Gln)	single nucleotide variant	Inborn genetic diseases [RCV004461934]	Chr19:43731657 [GRCh38] Chr19:44235809 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.751A>C (p.Asn251His)	single nucleotide variant	Inborn genetic diseases [RCV004461937]	Chr19:43740169 [GRCh38] Chr19:44244321 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.752A>G (p.Asn251Ser)	single nucleotide variant	Inborn genetic diseases [RCV004461938]	Chr19:43740168 [GRCh38] Chr19:44244320 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.708del (p.Thr235_Tyr236insTer)	deletion	not provided [RCV004592456]	Chr19:43740212 [GRCh38] Chr19:44244364 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1426C>T (p.Gln476Ter)	single nucleotide variant	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV004587784]	Chr19:43732916 [GRCh38] Chr19:44237068 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.195del (p.Ile66fs)	deletion	Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies [RCV004699997]	Chr19:43748008 [GRCh38] Chr19:44252160 [GRCh37] Chr19:19q13.31	pathogenic
NM_019108.4(SMG9):c.496G>A (p.Val166Met)	single nucleotide variant	Inborn genetic diseases [RCV004667863]	Chr19:43747534 [GRCh38] Chr19:44251686 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.263C>T (p.Pro88Leu)	single nucleotide variant	Inborn genetic diseases [RCV004667864]	Chr19:43747860 [GRCh38] Chr19:44252012 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.392C>T (p.Ala131Val)	single nucleotide variant	Inborn genetic diseases [RCV004667865]	Chr19:43747731 [GRCh38] Chr19:44251883 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1390C>T (p.Pro464Ser)	single nucleotide variant	Inborn genetic diseases [RCV004667866]	Chr19:43732952 [GRCh38] Chr19:44237104 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1033C>T (p.Pro345Ser)	single nucleotide variant	not specified [RCV004689498]	Chr19:43734458 [GRCh38] Chr19:44238610 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.964C>G (p.Gln322Glu)	single nucleotide variant	Inborn genetic diseases [RCV004667867]	Chr19:43737628 [GRCh38] Chr19:44241780 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.33C>T (p.Leu11=)	single nucleotide variant	SMG9-related disorder [RCV004757852]	Chr19:43750709 [GRCh38] Chr19:44254861 [GRCh37] Chr19:19q13.31	likely benign
NM_019108.4(SMG9):c.1438A>G (p.Met480Val)	single nucleotide variant	Inborn genetic diseases [RCV004963805]	Chr19:43732904 [GRCh38] Chr19:44237056 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1340-5T>C	single nucleotide variant	Inborn genetic diseases [RCV004963803]	Chr19:43733007 [GRCh38] Chr19:44237159 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1300A>G (p.Met434Val)	single nucleotide variant	Inborn genetic diseases [RCV004963806]	Chr19:43733363 [GRCh38] Chr19:44237515 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1435T>C (p.Ser479Pro)	single nucleotide variant	Inborn genetic diseases [RCV004963807]	Chr19:43732907 [GRCh38] Chr19:44237059 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.310C>T (p.Arg104Trp)	single nucleotide variant	Inborn genetic diseases [RCV004963804]	Chr19:43747813 [GRCh38] Chr19:44251965 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.484A>G (p.Met162Val)	single nucleotide variant	Inborn genetic diseases [RCV004963808]	Chr19:43747639 [GRCh38] Chr19:44251791 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.472G>A (p.Ala158Thr)	single nucleotide variant	Inborn genetic diseases [RCV004963801]	Chr19:43747651 [GRCh38] Chr19:44251803 [GRCh37] Chr19:19q13.31	uncertain significance
NM_019108.4(SMG9):c.1381C>T (p.Arg461Cys)	single nucleotide variant	Inborn genetic diseases [RCV004963802]	Chr19:43732961 [GRCh38] Chr19:44237113 [GRCh37] Chr19:19q13.31	uncertain significance

Predicted Target Of

	Summary Value
Count of predictions:	3793
Count of miRNA genes:	1051
Interacting mature miRNAs:	1320
Transcripts:	ENST00000270066, ENST00000594081, ENST00000595700, ENST00000596714, ENST00000597586, ENST00000597598, ENST00000598860, ENST00000598886, ENST00000599804, ENST00000600097, ENST00000601170, ENST00000601925, ENST00000602222
Prediction methods:	Microtar, Miranda, Rnahybrid, Targetscan
Result types:	miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

The following QTLs overlap with this region.

RGD ID	Symbol	Name	LOD	P Value	Trait	Sub Trait	Chr	Start	Stop	Species
1559110	SCL22_H	Serum cholesterol level QTL 22 (human)	3.59	0.000241	Lipid level	LDL cholesterol	19	31907594	57907594	Human
597504376	GWAS1600450_H	diastolic blood pressure, systolic blood pressure QTL GWAS1600450 (human)		2e-08	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	19	43754550	43754551	Human
597505461	GWAS1601535_H	diastolic blood pressure, systolic blood pressure QTL GWAS1601535 (human)		0.0000002	diastolic blood pressure, systolic blood pressure	systolic blood pressure (CMO:0000004)	19	43754550	43754551	Human
1331657	COPD9_H	Chronic obstructive pulmonary disease QTL 9 (human)	1.94		Chronic airflow obstruction	post-bronchodilator FEV1	19	31021760	57021760	Human
406959727	GWAS608703_H	nitric oxide exhalation measurement QTL GWAS608703 (human)		0.000005	nitric oxide exhalation measurement		19	43731365	43731366	Human

STS-R15751

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,235,349 - 44,235,558	UniSTS	GRCh37
Build 36	19	48,927,189 - 48,927,398	RGD	NCBI36
Celera	19	41,038,926 - 41,039,135	RGD
Cytogenetic Map	19	q13.31	UniSTS
HuRef	19	40,667,556 - 40,667,765	UniSTS
GeneMap99-GB4 RH Map	19	250.04	UniSTS

RH46988

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,235,324 - 44,235,483	UniSTS	GRCh37
Build 36	19	48,927,164 - 48,927,323	RGD	NCBI36
Celera	19	41,038,901 - 41,039,060	RGD
Cytogenetic Map	19	q13.31	UniSTS
HuRef	19	40,667,531 - 40,667,690	UniSTS
GeneMap99-GB4 RH Map	19	247.53	UniSTS

STS-F09576

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	19	44,235,365 - 44,235,450	UniSTS	GRCh37
Build 36	19	48,927,205 - 48,927,290	RGD	NCBI36
Celera	19	41,038,942 - 41,039,027	RGD
Cytogenetic Map	19	q13.31	UniSTS
HuRef	19	40,667,572 - 40,667,657	UniSTS
GeneMap99-GB4 RH Map	19	245.11	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	2437	2788	2251	4973	1726	2351	6	624	1950	465	2269	7301	6469	52	3734	1	852	1744	1616	174	1


RefSeq Transcripts	NG_051200	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_019108	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_005259057	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527113	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527114	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527115	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_011527116	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_017026988	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_024451608	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439098	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_047439099	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321458	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321459	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321460	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321461	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321462	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	XM_054321463	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC004780	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK022948	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK309830	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AL136606	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC008869	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BM981890	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BQ180848	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471126	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068259	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	DA356912	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY064986	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	HY084349	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

Ensembl Acc Id:

ENST00000270066 ⟹ ENSP00000270066

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,727,983 - 43,754,962 (-)	Ensembl

Ensembl Acc Id:

ENST00000594081

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,733,344 - 43,734,079 (-)	Ensembl

Ensembl Acc Id:

ENST00000595700

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,737,850 - 43,754,867 (-)	Ensembl

Ensembl Acc Id:

ENST00000596714 ⟹ ENSP00000470541

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,777 - 43,754,601 (-)	Ensembl

Ensembl Acc Id:

ENST00000597586 ⟹ ENSP00000472684

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,655 - 43,754,598 (-)	Ensembl

Ensembl Acc Id:

ENST00000597598 ⟹ ENSP00000471442

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,734,460 - 43,747,734 (-)	Ensembl

Ensembl Acc Id:

ENST00000598860

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,733,424 - 43,734,825 (-)	Ensembl

Ensembl Acc Id:

ENST00000598886

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,797 - 43,754,922 (-)	Ensembl

Ensembl Acc Id:

ENST00000599804 ⟹ ENSP00000468941

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,762 - 43,754,634 (-)	Ensembl

Ensembl Acc Id:

ENST00000600097

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,731,390 - 43,733,110 (-)	Ensembl

Ensembl Acc Id:

ENST00000601170 ⟹ ENSP00000471398

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,732,270 - 43,754,962 (-)	Ensembl

Ensembl Acc Id:

ENST00000601925 ⟹ ENSP00000470031

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,677 - 43,754,627 (-)	Ensembl

Ensembl Acc Id:

ENST00000602222 ⟹ ENSP00000470451

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	19	43,747,479 - 43,754,634 (-)	Ensembl

RefSeq Acc Id:

NM_019108 ⟹ NP_061981

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,962 (-)	NCBI
GRCh37	19	44,232,851 - 44,259,142 (-)	NCBI
Build 36	19	48,927,141 - 48,950,982 (-)	NCBI Archive
Celera	19	41,038,878 - 41,062,719 (-)	RGD
HuRef	19	40,667,508 - 40,691,349 (-)	RGD
CHM1_1	19	44,237,404 - 44,261,246 (-)	NCBI
T2T-CHM13v2.0	19	46,550,715 - 46,577,698 (-)	NCBI

Sequence:

show sequence

ATTCAGTTCTCGAGCTCCAGCCCTCAGCGCATGCGCAGGACGAGTCGCCTGAGGGAACTGATCTCAGCTCGGGCCCGCGTTACATCCTCCTCCTCTTCTTCCTTCGGCCCAGCTTTCCTTAGGGGCTG
CAACCCGGACGCCGAGGCCGGTTTCGGAGTGGGGAGTGCCCATTTTCTCTCCTTCCCACGTTCCTGGCCCCCAGACGCCATTTGCAGGCGGGTGGCTTGGGTCAGCCTCCCCGCCCCCACCCGACTCC
CGTCACGGGAGAGCGCACACCGCGCCCCGAGAACCAATCAGCAGCCGCGTTAGGTAACCATGTCTGAGTCTGGACACAGTCAGCCTGGACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCT
GGCTCTGGTGGCCCCCAGAATCTCTCTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGATGCCAGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCAT
CATCCTCTCAAAACCTCCAGCAGAGCGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTCTGGAGAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGG
GGCCTGTGGCCGTGACAGGTGCCTCTACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAGAAGGAGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAAC
CGGGGCATGGGCACTGCCGCACCAGCAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCACAGCATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGC
CATCGAGTACCTGTTGGATCAGACTGATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGTCATTGTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATG
TTTTCCGGGCCCAGAGCGCTGAAATGAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGGATTGTTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTA
GACCATCTCATCAATAATGACCGCAAACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGATTGCTGCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCA
GGACTGGTTCACAGACCTCAGTCTCTACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACGAGTCCAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACC
CCCACCTAGTCTTCTTGCAGAACAAAGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGACCAGCTCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCC
ATGTTACAATGCAATGTCTTCCCGGGGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGACAGTGAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTC
CAGCCCACTCTTCTCCCTGCTGCCTGGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGATGTCCATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGA
AGAACTGGTTCCACTACGCTGCCCGGATCTGGGATGGGGTGAGAAAGTCCTCTGCTCTGGCAGAGTACAGCCGCCTGCTGGCCTGAGGCCAAGGAGAGGAATGTCATGCAGGGGACCTCCTGGGTCCG
CAGTGTACTGCGAGGGAGCACAGATGTCCATCCCCCGCTGGGGTGGAGAGCGGCAGCAGGCCTGATGGATGAGGGATCGTGGCTTCCCGGCCCAGAGACATGAGGTGTCCAGGGCCAGGCCCCCCACC
CTCAGTTGGGGCTGTTCCGGGGGTGACTGTGAGCGATCCCACCCCAAACCTGAGATGGGGTAGCCCGTCCTGTGTCCTCCACAGGGACAAGCAGTGGGAGGAGTCTGAATGGTCACCAGGAAGCCCGG
GCTCCATCTTGACCTCCTTTTTCAGGGACAGGAGCAACAGGCCCCTCTTCCCTGACTCTAAGCCCTTCCCTGTAAGGTGAGGCAGGGTCTGGAGAGCTCTTTATTGGAACAGATCTGGTGGTTCAAAT
AAACACAGTCATGCAAGCCTGTTCTTATGTTCCACTTACTCCTCTACCCACCATGCAGCTCTGGGAAGCAGGACAAATTGGACACCCAGCCCTTGCGGGCAGATGGAGATCAGTCTCTGCTAAGAAGT
CCCTAGAAGGGGTTATTCTGTTTCCTGGGGTGGCATCAAGCCTCCCCTGTGTATGTTTTGGATGGGAAAATACACTGGTGCAGCTGAGTACAGCAACTACCCTCGTGTCTTCTGCTCTCACTTAAAGA
CAGTTACCTGCCTTTGGGTTAAATGCCCAGTTAAATACAGTGCCTAGGCTGGGCATGGTGGCTCACGTCTATAATCCTAGCACTTTGGGAGGCCGAGGCAGGCGGATCACTTGAGATCAGGAGTTCGA
GACCAGCCTGGCCAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAAAAAATTAGCTGGGCGTGGTGGCGCACGCCTGTAATCCTAGCTACTTGGGAGGCTGAGGTGGGAGAACTGCTTGAACC
CGGGAGGCAGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCTCCAGCTTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAGCCTACTTTTGACTTAAGAAACAGAACTTGTCCTT
AAATGTAGTAAGTACTTACCCTTAATCCAAATACCATGCCTCACCCGTACAGACAGTGCCTTCTGTTGGTTAAATACAGTGGCTTTCCTCTCGTAAACCTCATCTACTCTTGCTTAGAAATGGCAACC
CTCACCTTTAATGTAAATCCAGAACCTACCCTCAGTTAAATCCACTCTGCGATTTGGTACAGTACCAACCCTCATCTGCTCAGTTAAATACAGTACATGATCTTAGTTTGAGGTTTCCCAAAGTATGT
CTCCAAATTGGTCTCGCCACCCCAAATTAATCCATCGTTCAGTAAAGCAGTCAGCTCCAGTCCAGCTGGCTGAGTCTGTTCATCCATTGCCCTCCCCCACCCCCTGCCGCCCGTGGCACATATTTGTC
TCCCTGGTTTCCTCCTGCTTTCAAGCATCCCATACAGCCCTGGTGTTTCATACCATGGGGATCCAGGGCCTTGTGAGAAACAACTGAAGTGAGGGGGGGCGGGGGGTCAGTGAAGAAAGCACTCAGCA
GGGCCAGAGAAGGTCAGGCCAGAAGTGGATAGAATGCCAGTCTCTACAGAGGGCTGAGGCCTGGGAGACAGGAGGCCCAGCACAGGCTCTGGCACAGCCACTTCCTGACCGACTGTAGTAGGCAAGGA
GCCTCCCCTCTCTGGCCATTATTCCAACATTTAAGATCATCCTCGAGGCCCTTCAGAGCTGTGACATTCACTGCCCTTTTACCGAAATGCTTCTAAATCCTTTGCCCCACTGTCGTGATCTCTACAGA
ACCCTCCTGACCATCCTCTCCAGCTAGATAACCCAGCTCTTCCCTGCCTTGTCAAAATGTCTGCCCCAAGTCTCATCCCCACCCCTGCTTCCCCAGGGGGTCTTCCTGCTGGTTGATTTGGGGGTTTG
CCAGAGTAGGAAAGGTGGTGGGGGCAACGGCCAGAGAAAGATGGGAGACCCAAGGCAAGACGGCACCAGACAGCATGCAACTCAGTCCAGGAGAGTTGGAGCTTCAGTTTCTTCCATCCCAGCCCCTT
TCAGCACAAGGCTGGGGACAGAGAGAACTGTGCCCTCCCAGCCCTAACCTACCACCTCCTGCTGGCCCAGCTCAGGGCTGAGATTGTTGATTGGATTCACCTGTGATCTTGTGGTCAGTGTTGCCAAG
GAAGGTCTGAATCAGCACACTCTTGGTGTCCCTGGCTGCCAAATCCAGGGGCGTGTGAAGCATCCGGTAGATGGTGGTGAAGGAGGTGCTGCAGGTGACCAGGATGCCCGGATGGGTGAAATGAGGCA
CTCTGGAAATCCGGCCTAGCGTTTCCACCACCACCACCGTGGTGATCTGGTGACCTTGGTCCAAAGGCCCTGTCCCACCTCCAGGGTTTTGTGCAGGGGCTGGCTCGTTGAGGCAGTTTGACAGAGGA
GTCAAACTGGCAGTAGCCTTCTGAACAGTGGGTAAGTATGTACCGGTCACCCGCCACCCCCTTTACATCCAGCAGAGGACTCAGGCTGATGCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATAC
TGCTGCAGGGAGGCCTTCTGCTCTAGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTGCTGCTTGTGGCTCTCCAGTCCCTTCATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCA
GACACAGGAATACATTGGTATCCTTCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCAGCTTCTACACTGGAGCAGGCCATGTTGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGA
GCGCAGCACTTGGCCTAAGAATGTCAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTTGCCATCTACCACCTGTGTGGCATTGGACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCT
GCAAAATAAGGTGATGATTGTACCTACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAATGGTGTCTGTTTTAGTCGGTTCTTGCATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATA
AAGAAAAGGGGTTTAATTGGCTCAGAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTGCTCGGCTTCTGGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGT
ACTTCACATGCCCAGAGCAGGAGCAAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCTTACAACAGATTCACTATTGTGAGGACAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCAC
CCCCATGATGCCGTCCCTCCCGCCAGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTGACATGAGATCTGGTGGGGACACAGATCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCA
ATAAATGTTAAATGCCACCATCATCCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCAATCCTCTAACTTTGCAAATAAATGAGCCAATACATACTCTTTCTCCTTAA

hide sequence

RefSeq Acc Id:

XM_005259057 ⟹ XP_005259114

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,962 (-)	NCBI
GRCh37	19	44,232,851 - 44,259,142 (-)	NCBI

Sequence:

show sequence

ATTCAGTTCTCGAGCTCCAGCCCTCAGCGCATGCGCAGGACGAGTCGCCTGAGGGAACTGATCTCAGCTCGGGCCCGCGTTACATCCTCCTCCTCTTCTTCCTTCGGCCCAGCTTTCCTTAGGGGCTG
CAACCCGGACGCCGAGGCCGGTTTCGGAGTGGGGAGTGCCCATTTTCTCTCCTTCCCACGTTCCTGGCCCCCAGACGCCATTTGCAGGCGGGTGGCTTGGGTCAGCCTCCCCGCCCCCACCCGACTCC
CGTCACGGGAGAGCGCACACCGCGCCCCGAGAACCAATCAGCAGCCGCGTTAGGTAACCATGTCTGAGTCTGGACACAGTCAGCCTGGACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCT
GGCTCTGGTGGCCCCCAGAATCTCTCTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGATGCCAGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCAT
CATCCTCTCAAAACCTCCAGCAGAGCGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTCTGGAGAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGG
GGCCTGTGGCCGTGACAGGTGCCTCTACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAGAAGGAGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAAC
CGGGGCATGGGCACTGCCGCACCAGCAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCACAGCATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGC
CATCGAGTACCTGTTGGATCAGACTGATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGTCATTGTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATG
TTTTCCGGGCCCAGAGCGCTGAAATGAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGGATTGTTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTA
GACCATCTCATCAATAATGACCGCAAACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGATTGCTGCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCA
GGACTGGTTCACAGACCTCAGTCTCTACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACGAGTCCAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACC
CCCACCTAGTCTTCTTGCAGAACAAAGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGACCAGCTCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCC
ATGTTACAATGCAATGTCTTCCCGGGGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGACAGTGAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTC
CAGCCCACTCTTCTCCCTGCTGCCTGGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGATGTCCATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGA
AGAACTGCAGAGGACTCAGGCTGATGCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATACTGCTGCAGGGAGGCCTTCTGCTCTAGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTG
CTGCTTGTGGCTCTCCAGTCCCTTCATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCAGACACAGGAATACATTGGTATCCTTCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCA
GCTTCTACACTGGAGCAGGCCATGTTGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGAGCGCAGCACTTGGCCTAAGAATGTCAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTT
GCCATCTACCACCTGTGTGGCATTGGACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCTGCAAAATAAGGTGATGATTGTACCTACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAAT
GGTGTCTGTTTTAGTCGGTTCTTGCATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGGGGTTTAATTGGCTCAGAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTG
CTCGGCTTCTGGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGTACTTCACATGCCCAGAGCAGGAGCAAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCT
TACAACAGATTCACTATTGTGAGGACAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCACCCCCATGATGCCGTCCCTCCCGCCAGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTG
ACATGAGATCTGGTGGGGACACAGATCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCAATAAATGTTAAATGCCACCATCATCCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCA
ATCCTCTAACTTTGCAAATAAATGAGCCAATACATACTCTT

hide sequence

RefSeq Acc Id:

XM_011527113 ⟹ XP_011525415

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,593 (-)	NCBI

Sequence:

show sequence

AGGTAAGGGGGCCGCGAGCCCGCGCGAGGCTAGCGCACCGGCGGCGGGCGGGGCGCTCCGGCAG
GCCCCGCCCCCGCCTTGGCCATTGAAAGGTAACCATGTCTGAGTCTGGACACAGTCAGCCTGGACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCTGGCTCTGGTGGCCCCCAGAATCTCT
CTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGATGCCAGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCATCATCCTCTCAAAACCTCCAGCAGAG
CGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTCTGGAGAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGGGGCCTGTGGCCGTGACAGGTGCCTC
TACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAGAAGGAGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAACCGGGGCATGGGCACTGCCGCACCAG
CAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCACAGCATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGCCATCGAGTACCTGTTGGATCAGACT
GATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGTCATTGTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATGTTTTCCGGGCCCAGAGCGCTGAAAT
GAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGGATTGTTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTAGACCATCTCATCAATAATGACCGCA
AACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGATTGCTGCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCAGGACTGGTTCACAGACCTCAGTCTC
TACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACGAGTCCAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACCCCCACCTAGTCTTCTTGCAGAACAA
AGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGACCAGCTCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCCATGTTACAATGCAATGTCTTCCCGG
GGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGACAGTGAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTCCAGCCCACTCTTCTCCCTGCTGCCT
GGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGATGTCCATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGAAGAACTGCAGAGGACTCAGGCTGAT
GCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATACTGCTGCAGGGAGGCCTTCTGCTCTAGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTGCTGCTTGTGGCTCTCCAGTCCCTTC
ATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCAGACACAGGAATACATTGGTATCCTTCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCAGCTTCTACACTGGAGCAGGCCATGT
TGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGAGCGCAGCACTTGGCCTAAGAATGTCAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTTGCCATCTACCACCTGTGTGGCATTG
GACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCTGCAAAATAAGGTGATGATTGTACCTACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAATGGTGTCTGTTTTAGTCGGTTCTTGC
ATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGGGGTTTAATTGGCTCAGAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTGCTCGGCTTCTGGGGAGGCCTCAGGA
AACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGTACTTCACATGCCCAGAGCAGGAGCAAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCTTACAACAGATTCACTATTGTGAGGA
CAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCACCCCCATGATGCCGTCCCTCCCGCCAGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTGACATGAGATCTGGTGGGGACACAGA
TCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCAATAAATGTTAAATGCCACCATCATCCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCAATCCTCTAACTTTGCAAATAAATGA
GCCAATACATACTCTT

hide sequence

RefSeq Acc Id:

XM_011527114 ⟹ XP_011525416

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,593 (-)	NCBI

Sequence:

show sequence

ATTGAAAGGTCGCTGGGACGTCCGGCGGGGGTAACCATGTCTGAGTCTGGACACAGTCAGCCTG
GACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCTGGCTCTGGTGGCCCCCAGAATCTCTCTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGATGCC
AGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCATCATCCTCTCAAAACCTCCAGCAGAGCGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTCTGGA
GAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGGGGCCTGTGGCCGTGACAGGTGCCTCTACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAGAAGG
AGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAACCGGGGCATGGGCACTGCCGCACCAGCAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCACAGC
ATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGCCATCGAGTACCTGTTGGATCAGACTGATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGTCATT
GTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATGTTTTCCGGGCCCAGAGCGCTGAAATGAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGGATTG
TTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTAGACCATCTCATCAATAATGACCGCAAACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGATTGCT
GCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCAGGACTGGTTCACAGACCTCAGTCTCTACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACGAGTC
CAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACCCCCACCTAGTCTTCTTGCAGAACAAAGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGACCAGC
TCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCCATGTTACAATGCAATGTCTTCCCGGGGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGACAGT
GAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTCCAGCCCACTCTTCTCCCTGCTGCCTGGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGATGTC
CATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGAAGAACTGCAGAGGACTCAGGCTGATGCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATACTGCTGCAGGGAGGCCTTCTGCTCT
AGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTGCTGCTTGTGGCTCTCCAGTCCCTTCATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCAGACACAGGAATACATTGGTATCCT
TCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCAGCTTCTACACTGGAGCAGGCCATGTTGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGAGCGCAGCACTTGGCCTAAGAATGT
CAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTTGCCATCTACCACCTGTGTGGCATTGGACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCTGCAAAATAAGGTGATGATTGTACC
TACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAATGGTGTCTGTTTTAGTCGGTTCTTGCATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGGGGTTTAATTGGCTCA
GAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTGCTCGGCTTCTGGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGTACTTCACATGCCCAGAGCAGGAGC
AAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCTTACAACAGATTCACTATTGTGAGGACAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCACCCCCATGATGCCGTCCCTCCCGCC
AGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTGACATGAGATCTGGTGGGGACACAGATCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCAATAAATGTTAAATGCCACCATCAT
CCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCAATCCTCTAACTTTGCAAATAAATGAGCCAATACATACTCTT

hide sequence

RefSeq Acc Id:

XM_011527115 ⟹ XP_011525417

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,593 (-)	NCBI

Sequence:

show sequence

GCTAGCGCACCGGCGGCGGGCGGGGCGCTCCGGCAGGCCCCGCCCCCGCCTTGGCCATTGAAAGGTCGCTGGGACGTCCGGCGGGGGTGCGGCACTGAGTAACCATGTCTGAGTCTGGACACAGTCAG
CCTGGACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCTGGCTCTGGTGGCCCCCAGAATCTCTCTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGA
TGCCAGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCATCATCCTCTCAAAACCTCCAGCAGAGCGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTC
TGGAGAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGGGGCCTGTGGCCGTGACAGGTGCCTCTACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAG
AAGGAGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAACCGGGGCATGGGCACTGCCGCACCAGCAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCA
CAGCATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGCCATCGAGTACCTGTTGGATCAGACTGATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGT
CATTGTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATGTTTTCCGGGCCCAGAGCGCTGAAATGAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGG
ATTGTTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTAGACCATCTCATCAATAATGACCGCAAACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGAT
TGCTGCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCAGGACTGGTTCACAGACCTCAGTCTCTACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACG
AGTCCAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACCCCCACCTAGTCTTCTTGCAGAACAAAGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGAC
CAGCTCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCCATGTTACAATGCAATGTCTTCCCGGGGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGA
CAGTGAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTCCAGCCCACTCTTCTCCCTGCTGCCTGGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGA
TGTCCATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGAAGAACTGCAGAGGACTCAGGCTGATGCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATACTGCTGCAGGGAGGCCTTCTG
CTCTAGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTGCTGCTTGTGGCTCTCCAGTCCCTTCATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCAGACACAGGAATACATTGGTA
TCCTTCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCAGCTTCTACACTGGAGCAGGCCATGTTGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGAGCGCAGCACTTGGCCTAAGA
ATGTCAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTTGCCATCTACCACCTGTGTGGCATTGGACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCTGCAAAATAAGGTGATGATTG
TACCTACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAATGGTGTCTGTTTTAGTCGGTTCTTGCATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGGGGTTTAATTGG
CTCAGAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTGCTCGGCTTCTGGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGTACTTCACATGCCCAGAGCAG
GAGCAAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCTTACAACAGATTCACTATTGTGAGGACAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCACCCCCATGATGCCGTCCCTCC
CGCCAGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTGACATGAGATCTGGTGGGGACACAGATCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCAATAAATGTTAAATGCCACCA
TCATCCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCAATCCTCTAACTTTGCAAATAAATGAGCCAATACATACTCTT

hide sequence

RefSeq Acc Id:

XM_011527116 ⟹ XP_011525418

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,593 (-)	NCBI

Sequence:

show sequence

GCTCCGGCAGGCCCCGCCCCCGCCTTGGCCATTGAAAGGTCGCTGGGACGTCCGGCGGGGGTGCGGCACTGAGTAGGGGGCCGGCGACCGTCAATTCGATACTGGGTTGGCAGGAATGGGGGCGGGGG
ACGGAAATAACGTGTAAATGAGAAACTTATGCTCTGCGAGATCCAAGTACAGCCTGCAAACTGCCCGTCAAGTACTGGGGAGGCCGCCCCAATAACGTAACCATGTCTGAGTCTGGACACAGTCAGCC
TGGACTCTATGGGATAGAGCGGCGGCGACGGTGGAAGGAGCCTGGCTCTGGTGGCCCCCAGAATCTCTCTGGGCCTGGTGGTCGGGAGAGGGACTACATTGCACCATGGGAAAGAGAGAGAAGGGATG
CCAGCGAAGAGACAAGCACTTCCGTCATGCAGAAAACCCCCATCATCCTCTCAAAACCTCCAGCAGAGCGGTCAAAACAGCCACCACCTCCAACAGCCCCTGCTGCCCCGCCTGCTCCAGCCCCTCTG
GAGAAGCCCATCGTTCTCATGAAGCCACGGGAGGAGGGGAAGGGGCCTGTGGCCGTGACAGGTGCCTCTACCCCTGAGGGCACCGCCCCACCACCCCCTGCAGCCCCTGCGCCACCCAAGGGGGAGAA
GGAGGGGCAGAGACCCACACAGCCTGTGTACCAGATCCAGAACCGGGGCATGGGCACTGCCGCACCAGCAGCCATGGACCCTGTCGTGGGTCAGGCCAAACTACTGCCCCCAGAGCGCATGAAGCACA
GCATCAAGTTGGTGGATGACCAGATGAATTGGTGTGACAGTGCCATCGAGTACCTGTTGGATCAGACTGATGTGTTGGTGGTTGGTGTCCTGGGCCTCCAGGGGACAGGCAAGTCCATGGTCATGTCA
TTGTTGTCAGCCAACACTCCAGAGGAGGACCAGAGGACTTATGTTTTCCGGGCCCAGAGCGCTGAAATGAAGGAACGAGGGGGCAACCAGACCAGTGGCATCGACTTCTTTATTACCCAAGAACGGAT
TGTTTTCCTGGACACACAGCCCATCCTGAGCCCTTCTATCCTAGACCATCTCATCAATAATGACCGCAAACTGCCTCCAGAGTACAACCTTCCCCACACTTACGTTGAAATGCAGTCACTCCAGATTG
CTGCCTTCCTTTTCACGGTCTGCCATGTGGTGATTGTTGTCCAGGACTGGTTCACAGACCTCAGTCTCTACAGGTTCCTGCAGACAGCAGAGATGGTGAAGCCCTCCACCCCATCCCCCAGCCACGAG
TCCAGCAGCTCATCGGGCTCCGATGAAGGCACCGAGTACTACCCCCACCTAGTCTTCTTGCAGAACAAAGCTCGCCGAGAGGACTTCTGTCCTCGGAAGCTGCGGCAGATGCACCTGATGATTGACCA
GCTCATGGCCCACTCCCACCTGCGTTACAAGGGAACTCTGTCCATGTTACAATGCAATGTCTTCCCGGGGCTTCCACCTGACTTCCTGGACTCTGAGGTCAACTTATTCCTGGTACCCTTCATGGACA
GTGAAGCAGAGAGTGAAAACCCACCAAGAGCAGGACCTGGTTCCAGCCCACTCTTCTCCCTGCTGCCTGGGTATCGTGGCCACCCCAGTTTCCAGTCCTTGGTGAGCAAGCTCCGGAGCCAAGTGATG
TCCATGGCCCGGCCACAGCTGTCACACACGATCCTCACCGAGAAGAACTGCAGAGGACTCAGGCTGATGCTGCCAGCAGGCCACTGTGGACACCAGCTAGATATACTGCTGCAGGGAGGCCTTCTGCT
CTAGGATGGGCTGCAAGATGGGCCTGGCCACCAGGAATGCCTGCTGCTTGTGGCTCTCCAGTCCCTTCATCATTCCCAGCAGGTGGAACTCACGCTTTTCAATTCAGACACAGGAATACATTGGTATC
CTTCTCACCCTCCACTGCAGGAAACATGAGCACCGCTCAATCAGCTTCTACACTGGAGCAGGCCATGTTGTGCTGGCAGCTGCCTGGGCTCAAGCGCCTGTCATGAGCGCAGCACTTGGCCTAAGAAT
GTCAGCCCTGCAGCCAGGCTGCCTATGTTCAGATCCCAGCCTTGCCATCTACCACCTGTGTGGCATTGGACAAGTTGCTAAAGCTTGCTGGGCATCTGTTTTGTCTGCAAAATAAGGTGATGATTGTA
CCTACCTCCTAGGGGTGTTGTGGTGATTAATTGAGTTCATAATGGTGTCTGTTTTAGTCGGTTCTTGCATTGCTGTAAGGAAATACCTGAGACTGGGTAATTTATAAAGAAAAGGGGTTTAATTGGCT
CAGAGTTCTGCAGGCTGAACCAGAAGCATGGTGCTGGCATCTGCTCGGCTTCTGGGGAGGCCTCAGGAAACTTACAATCATGGCGGAAGGTGAACTGGGAGCAGGTACTTCACATGCCCAGAGCAGGA
GCAAGAGGGGGCAGGTGGCACACACTTTGAAACCACGAGCTCTTACAACAGATTCACTATTGTGAGGACAGTACCAAGGGGCTGGCGCTGAACCATGAGAAACCACCCCCATGATGCCGTCCCTCCCG
CCAGGCCCCACCTCCAACAGTGGTGACTACAAACTACAAGTTGACATGAGATCTGGTGGGGACACAGATCCAAACCATATCAGTGCCTGACCTATGCTGAGCCTCAATAAATGTTAAATGCCACCATC
ATCCACAGGTGCCAGGTCTGCATTGGGCACATAGCATTTTGCAATCCTCTAACTTTGCAAATAAATGAGCCAATACATACTCTT

hide sequence

RefSeq Acc Id:

XM_047439098 ⟹ XP_047295054

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,754,593 (-)	NCBI

RefSeq Acc Id:

XM_047439099 ⟹ XP_047295055

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,727,983 - 43,747,530 (-)	NCBI

RefSeq Acc Id:

XM_054321458 ⟹ XP_054177433

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,577,698 (-)	NCBI

RefSeq Acc Id:

XM_054321459 ⟹ XP_054177434

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,577,391 (-)	NCBI

RefSeq Acc Id:

XM_054321460 ⟹ XP_054177435

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,577,370 (-)	NCBI

RefSeq Acc Id:

XM_054321461 ⟹ XP_054177436

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,577,363 (-)	NCBI

RefSeq Acc Id:

XM_054321462 ⟹ XP_054177437

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,577,337 (-)	NCBI

RefSeq Acc Id:

XM_054321463 ⟹ XP_054177438

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
T2T-CHM13v2.0	19	46,550,724 - 46,570,266 (-)	NCBI


Protein RefSeqs	NP_061981	(Get FASTA)	NCBI Sequence Viewer
	XP_005259114	(Get FASTA)	NCBI Sequence Viewer
	XP_011525415	(Get FASTA)	NCBI Sequence Viewer
	XP_011525416	(Get FASTA)	NCBI Sequence Viewer
	XP_011525417	(Get FASTA)	NCBI Sequence Viewer
	XP_011525418	(Get FASTA)	NCBI Sequence Viewer
	XP_047295054	(Get FASTA)	NCBI Sequence Viewer
	XP_047295055	(Get FASTA)	NCBI Sequence Viewer
	XP_054177433	(Get FASTA)	NCBI Sequence Viewer
	XP_054177434	(Get FASTA)	NCBI Sequence Viewer
	XP_054177435	(Get FASTA)	NCBI Sequence Viewer
	XP_054177436	(Get FASTA)	NCBI Sequence Viewer
	XP_054177437	(Get FASTA)	NCBI Sequence Viewer
	XP_054177438	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAC17932	(Get FASTA)	NCBI Sequence Viewer
	AAH08869	(Get FASTA)	NCBI Sequence Viewer
	BAB14323	(Get FASTA)	NCBI Sequence Viewer
	CAB66541	(Get FASTA)	NCBI Sequence Viewer
	EAW57223	(Get FASTA)	NCBI Sequence Viewer
	EAW57224	(Get FASTA)	NCBI Sequence Viewer
	EAW57225	(Get FASTA)	NCBI Sequence Viewer
	EAW57226	(Get FASTA)	NCBI Sequence Viewer
	EAW57227	(Get FASTA)	NCBI Sequence Viewer
	EAW57228	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000270066
	ENSP00000270066.6
	ENSP00000471398
	ENSP00000471398.1
GenBank Protein	Q9H0W8	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:

NP_061981 ⟸ NM_019108

- UniProtKB:

O60429 (UniProtKB/Swiss-Prot), Q9H9A9 (UniProtKB/Swiss-Prot), Q9H0W8 (UniProtKB/Swiss-Prot)

- Sequence:

show sequence

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPA
APAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGI
DFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKL
RQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNWFHYAARIWDGVRKSSAL
AEYSRLLA

hide sequence

RefSeq Acc Id:

XP_005259114 ⟸ XM_005259057

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKT
PIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCD
SAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV
VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGP
GSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL

hide sequence

RefSeq Acc Id:

XP_011525415 ⟸ XM_011527113

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPA
APAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGI
DFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKL
RQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNCRGLRLMLPAGHCGHQLD
ILLQGGLLL

hide sequence

RefSeq Acc Id:

XP_011525417 ⟸ XM_011527115

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKT
PIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPAAPAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCD
SAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGIDFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIV
VQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKLRQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGP
GSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNCRGLRLMLPAGHCGHQLDILLQGGLLL

hide sequence

RefSeq Acc Id:

XP_011525418 ⟸ XM_011527116

- Peptide Label:

isoform X1

- Sequence:

show sequence

MSESGHSQPGLYGIERRRRWKEPGSGGPQNLSGPGGRERDYIAPWERERRDASEETSTSVMQKTPIILSKPPAERSKQPPPPTAPAAPPAPAPLEKPIVLMKPREEGKGPVAVTGASTPEGTAPPPPA
APAPPKGEKEGQRPTQPVYQIQNRGMGTAAPAAMDPVVGQAKLLPPERMKHSIKLVDDQMNWCDSAIEYLLDQTDVLVVGVLGLQGTGKSMVMSLLSANTPEEDQRTYVFRAQSAEMKERGGNQTSGI
DFFITQERIVFLDTQPILSPSILDHLINNDRKLPPEYNLPHTYVEMQSLQIAAFLFTVCHVVIVVQDWFTDLSLYRFLQTAEMVKPSTPSPSHESSSSSGSDEGTEYYPHLVFLQNKARREDFCPRKL
RQMHLMIDQLMAHSHLRYKGTLSMLQCNVFPGLPPDFLDSEVNLFLVPFMDSEAESENPPRAGPGSSPLFSLLPGYRGHPSFQSLVSKLRSQVMSMARPQLSHTILTEKNCRGLRLMLPAGHCGHQLD
ILLQGGLLL

hide sequence

Name	Modeler	Protein Id	AA Range	Protein Structure
AF-Q9H0W8-F1-model_v2	AlphaFold	Q9H0W8	1-520	view protein structure

RGD ID:

7240267

Promoter ID:

EPDNEW_H25879

Type:

initiation region

Name:

SMG9_1

Description:

SMG9, nonsense mediated mRNA decay factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25880

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,754,921 - 43,754,981	EPDNEW

RGD ID:

7240271

Promoter ID:

EPDNEW_H25880

Type:

initiation region

Name:

SMG9_2

Description:

SMG9, nonsense mediated mRNA decay factor

SO ACC ID:

SO:0000170

Source:

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

Alternative Promoters:

null; see alsoEPDNEW_H25879

Experiment Methods:

Single-end sequencing.; Paired-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	19	43,755,197 - 43,755,257	EPDNEW

RGD ID:

6795241

Promoter ID:

HG_KWN:30165

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:

NM_019108, UC002OXK.2, UC010EIY.1

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	19	48,950,626 - 48,951,622 (-)	MPROMDB

Database	Acc Id	Source(s)
COSMIC	SMG9	COSMIC
Ensembl Genes	ENSG00000105771	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000270066	ENTREZGENE
	ENST00000270066.11	UniProtKB/Swiss-Prot
	ENST00000601170	ENTREZGENE
	ENST00000601170.5	UniProtKB/Swiss-Prot
Gene3D-CATH	3.40.50.300	UniProtKB/Swiss-Prot
GTEx	ENSG00000105771	GTEx
HGNC ID	HGNC:25763	ENTREZGENE
Human Proteome Map	SMG9	Human Proteome Map
InterPro	P-loop_NTPase	UniProtKB/Swiss-Prot
	SMG9	UniProtKB/Swiss-Prot
KEGG Report	hsa:56006	UniProtKB/Swiss-Prot
NCBI Gene	56006	ENTREZGENE
OMIM	613176	OMIM
PANTHER	PROTEIN SMG9	UniProtKB/Swiss-Prot
	PTHR14270	UniProtKB/Swiss-Prot
PharmGKB	PA162378734	PharmGKB
UniProt	M0QX70_HUMAN	UniProtKB/TrEMBL
	M0QYR7_HUMAN	UniProtKB/TrEMBL
	M0QZC7_HUMAN	UniProtKB/TrEMBL
	M0QZH1_HUMAN	UniProtKB/TrEMBL
	M0R0U0_HUMAN	UniProtKB/TrEMBL
	M0R2N0_HUMAN	UniProtKB/TrEMBL
	O60429	ENTREZGENE
	Q9H0W8	ENTREZGENE
	Q9H9A9	ENTREZGENE
	SMG9_HUMAN	UniProtKB/Swiss-Prot
UniProt Secondary	O60429	UniProtKB/Swiss-Prot
	Q9H9A9	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2019-01-29	SMG9	SMG9 nonsense mediated mRNA decay factor		SMG9, nonsense mediated mRNA decay factor	Symbol and/or name change	5135510	APPROVED
2016-05-10	SMG9	SMG9, nonsense mediated mRNA decay factor		SMG9 nonsense mediated mRNA decay factor	Symbol and/or name change	5135510	APPROVED
2013-07-09	SMG9	SMG9 nonsense mediated mRNA decay factor		smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)	Symbol and/or name change	5135510	APPROVED
2011-07-27	SMG9	smg-9 homolog, nonsense mediated mRNA decay factor (C. elegans)	C19orf61	chromosome 19 open reading frame 61	Symbol and/or name change	5135510	APPROVED

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


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


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

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