MSRB1 (methionine sulfoxide reductase B1)

Gene: MSRB1 (methionine sulfoxide reductase B1) Homo sapiens

Analyze

Symbol:

MSRB1

Name:

methionine sulfoxide reductase B1

RGD ID:

1312916

HGNC Page

HGNC:14133

Description:

Predicted to enable actin binding activity; peptide-methionine (R)-S-oxide reductase activity; and zinc ion binding activity. Predicted to be involved in actin filament polymerization; innate immune response; and protein repair. Located in nucleoplasm.

Type:

protein-coding

RefSeq Status:

REVIEWED

Previously known as:

HSPC270; methionine sulfoxide reductase; methionine-R-sulfoxide reductase B1; MGC3344; selenoprotein R; selenoprotein X, 1; SELENOR; SELENOX; SELR; SELX; SepR; SEPX1

RGD Orthologs

Alliance Genes

More Info

more info ...

Related Pseudogenes:

MSRB1P1

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	16	1,938,229 - 1,943,199 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,938,229 - 1,943,199 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	1,988,230 - 1,993,200 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,928,235 - 1,933,295 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	1,928,234 - 1,933,295	NCBI
Celera	16	2,200,442 - 2,205,502 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,912,836 - 1,917,896 (-)	NCBI		HuRef
CHM1_1	16	1,988,182 - 1,993,242 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,958,200 - 1,963,171 (-)	NCBI		T2T-CHM13v2.0

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

Disease Annotations Click to see Annotation Detail View

epilepsy (IAGP)

genetic disease (IAGP)

idiopathic generalized epilepsy (IAGP)

short-rib thoracic dysplasia 9 with or without polydactyly (IAGP)

tuberous sclerosis 2 (IAGP)

Gene-Chemical Interaction Annotations Click to see Annotation Detail View

(1->4)-beta-D-glucan (ISO)

17alpha-ethynylestradiol (ISO)

17beta-estradiol (EXP,ISO)

2,3,7,8-tetrachlorodibenzodioxine (ISO)

2-methylcholine (EXP)

3,3',4,4'-tetrachlorobiphenyl (ISO)

3,3',5,5'-tetrabromobisphenol A (ISO)

3-chloropropane-1,2-diol (ISO)

acetamide (ISO)

aflatoxin B1 (EXP,ISO)

all-trans-retinoic acid (EXP)

aristolochic acid A (EXP)

arsenite(3-) (EXP)

arsenous acid (ISO)

atrazine (EXP)

benzo[a]pyrene (EXP,ISO)

bisphenol A (ISO)

cadmium atom (ISO)

cadmium dichloride (ISO)

carbon nanotube (ISO)

chlorpyrifos (ISO)

copper(II) chloride (EXP)

crocidolite asbestos (EXP)

cyclosporin A (EXP)

diarsenic trioxide (ISO)

dibutyl phthalate (ISO)

elemental selenium (ISO)

ethanol (ISO)

ethyl methanesulfonate (EXP)

fenthion (ISO)

fipronil (ISO)

formaldehyde (EXP)

fumonisin B1 (ISO)

gentamycin (ISO)

hypochlorous acid (ISO)

isotretinoin (EXP)

lead(0) (EXP)

leflunomide (EXP)

methidathion (ISO)

methyl methanesulfonate (EXP)

microcystin-LR (ISO)

N-acetyl-L-cysteine (ISO)

nickel atom (EXP)

ozone (ISO)

paracetamol (EXP,ISO)

paraquat (ISO)

perfluorooctane-1-sulfonic acid (ISO)

pyrogallol (ISO)

Se-methyl-L-selenocysteine (EXP)

Se-methylselenocysteine (EXP)

selenium atom (ISO)

serpentine asbestos (EXP)

sulforaphane (EXP)

sunitinib (EXP)

temozolomide (EXP)

tert-butyl hydroperoxide (EXP,ISO)

testosterone (ISO)

tetrachloromethane (ISO)

triptonide (ISO)

uranium atom (EXP)

valproic acid (EXP)

Gene Ontology Annotations Click to see Annotation Detail View

Biological Process

actin filament polymerization (IEA,ISS)

innate immune response (IEA,ISS)

protein repair (IBA,IEA,ISO,ISS,TAS)

Cellular Component

actin cytoskeleton (IEA,ISS)

cellular_component (ND)

cytoplasm (IEA)

cytoskeleton (IEA)

cytosol (TAS)

nucleoplasm (IDA)

nucleus (IBA,IEA)

Molecular Function

actin binding (IEA,ISS)

L-methionine-(R)-S-oxide reductase activity (IEA)

metal ion binding (IEA)

oxidoreductase activity (IEA)

peptide-methionine (R)-S-oxide reductase activity (IBA,IEA,ISS,TAS)

protein binding (IPI)

zinc ion binding (IEA,ISS)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Generalized-onset seizure (IAGP)

Seizure (IAGP)

References

References - curated

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

Additional References at PubMed

PMID:8889548	PMID:10567350	PMID:10608886	PMID:11042152	PMID:11157797	PMID:11779133	PMID:12477932	PMID:14699060	PMID:15489334	PMID:17938273	PMID:18081029	PMID:18626009
PMID:20634897	PMID:21048031	PMID:21103663	PMID:21873635	PMID:22658674	PMID:22713178	PMID:23270945	PMID:23805218	PMID:23988788	PMID:24342607	PMID:26209915	PMID:26875981
PMID:26899321	PMID:28579431	PMID:29395081	PMID:32296183	PMID:32513696	PMID:35748872	PMID:36084791

Genomics

Comparative Map Data

MSRB1
(Homo sapiens - human)

Human Assembly	Chr	Position (strand)	Source	Genome Browsers
Human Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCh38	16	1,938,229 - 1,943,199 (-)	NCBI	GRCh38	GRCh38	hg38	GRCh38
GRCh38.p14 Ensembl	16	1,938,229 - 1,943,199 (-)	Ensembl	GRCh38		hg38	GRCh38
GRCh37	16	1,988,230 - 1,993,200 (-)	NCBI	GRCh37	GRCh37	hg19	GRCh37
Build 36	16	1,928,235 - 1,933,295 (-)	NCBI	NCBI36	Build 36	hg18	NCBI36
Build 34	16	1,928,234 - 1,933,295	NCBI
Celera	16	2,200,442 - 2,205,502 (-)	NCBI		Celera
Cytogenetic Map	16	p13.3	NCBI
HuRef	16	1,912,836 - 1,917,896 (-)	NCBI		HuRef
CHM1_1	16	1,988,182 - 1,993,242 (-)	NCBI		CHM1_1
T2T-CHM13v2.0	16	1,958,200 - 1,963,171 (-)	NCBI		T2T-CHM13v2.0

Msrb1
(Mus musculus - house mouse)

Mouse Assembly	Chr	Position (strand)	Source	Genome Browsers
Mouse Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCm39	17	24,955,567 - 24,961,752 (+)	NCBI	GRCm39	GRCm39	mm39
GRCm39 Ensembl	17	24,955,616 - 24,961,752 (+)	Ensembl		GRCm39 Ensembl
GRCm38	17	24,736,593 - 24,742,778 (+)	NCBI	GRCm38	GRCm38	mm10	GRCm38
GRCm38.p6 Ensembl	17	24,736,642 - 24,742,778 (+)	Ensembl	GRCm38		mm10	GRCm38
MGSCv37	17	24,873,587 - 24,879,723 (+)	NCBI	GRCm37	MGSCv37	mm9	NCBIm37
MGSCv36	17	24,464,267 - 24,470,378 (+)	NCBI		MGSCv36	mm8
Celera	17	25,259,999 - 25,266,140 (+)	NCBI		Celera
Cytogenetic Map	17	A3.3	NCBI
cM Map	17	12.53	NCBI

Msrb1
(Rattus norvegicus - Norway rat)

Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
GRCr8	10	14,269,414 - 14,275,140 (+)	NCBI		GRCr8
mRatBN7.2	10	13,764,883 - 13,770,609 (+)	NCBI	mRatBN7.2	mRatBN7.2
mRatBN7.2 Ensembl	10	13,764,883 - 13,770,609 (+)	Ensembl		mRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx	10	18,511,465 - 18,517,194 (+)	NCBI	Rnor_SHR	UTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0	10	18,000,325 - 18,006,054 (+)	NCBI	Rnor_SHRSP	UTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0	10	13,499,525 - 13,505,254 (+)	NCBI	Rnor_WKY	UTH_Rnor_WKY_Bbb_1.0
Rnor_6.0	10	14,105,750 - 14,111,463 (+)	NCBI	Rnor6.0	Rnor_6.0	rn6	Rnor6.0
Rnor_6.0 Ensembl	10	14,105,750 - 14,111,463 (+)	Ensembl	Rnor6.0		rn6	Rnor6.0
Rnor_5.0	10	13,921,478 - 13,927,191 (+)	NCBI	Rnor5.0	Rnor_5.0	rn5	Rnor5.0
RGSC_v3.4	10	13,992,929 - 13,998,642 (+)	NCBI	RGSC3.4	RGSC_v3.4	rn4	RGSC3.4
Celera	10	13,444,614 - 13,450,324 (+)	NCBI		Celera
Cytogenetic Map	10	q12	NCBI

Msrb1
(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_004955442	15,323,039 - 15,327,406 (+)	Ensembl	ChiLan1.0
ChiLan1.0	NW_004955442	15,322,961 - 15,328,311 (+)	NCBI	ChiLan1.0	ChiLan1.0

MSRB1
(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	18	2,404,074 - 2,409,169 (+)	NCBI		NHGRI_mPanPan1-v2
NHGRI_mPanPan1	16	6,185,920 - 6,193,549 (+)	NCBI		NHGRI_mPanPan1
Mhudiblu_PPA_v0	16	761,003 - 766,102 (+)	NCBI	Mhudiblu_PPA_v0	Mhudiblu_PPA_v0	panPan3
PanPan1.1	16	2,027,606 - 2,032,800 (-)	NCBI	panpan1.1	PanPan1.1	panPan2
PanPan1.1 Ensembl	16	2,028,487 - 2,032,636 (-)	Ensembl	panpan1.1		panPan2

MSRB1
(Canis lupus familiaris - dog)

Dog Assembly	Chr	Position (strand)	Source	Genome Browsers
Dog Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
CanFam3.1	6	38,981,721 - 38,986,459 (+)	NCBI	CanFam3.1	CanFam3.1	canFam3	CanFam3.1
CanFam3.1 Ensembl	6	38,981,721 - 38,986,459 (+)	Ensembl	CanFam3.1		canFam3	CanFam3.1
Dog10K_Boxer_Tasha	6	40,221,193 - 40,225,716 (+)	NCBI		Dog10K_Boxer_Tasha
ROS_Cfam_1.0	6	39,298,520 - 39,303,043 (+)	NCBI		ROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl	6	39,298,520 - 39,303,043 (+)	Ensembl		ROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1	6	38,975,293 - 38,979,816 (+)	NCBI		UMICH_Zoey_3.1
UNSW_CanFamBas_1.0	6	38,947,617 - 38,952,140 (+)	NCBI		UNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0	6	39,426,473 - 39,430,998 (+)	NCBI		UU_Cfam_GSD_1.0

Msrb1
(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	104,618,706 - 104,622,744 (-)	NCBI		HiC_Itri_2
SpeTri2.0 Ensembl	NW_004936694	2,086,822 - 2,089,932 (+)	Ensembl	SpeTri2.0	SpeTri2.0 Ensembl
SpeTri2.0	NW_004936694	2,086,573 - 2,090,752 (+)	NCBI	SpeTri2.0	SpeTri2.0		SpeTri2.0

MSRB1
(Sus scrofa - pig)

Pig Assembly	Chr	Position (strand)	Source	Genome Browsers
Pig Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
Sscrofa11.1 Ensembl	3	40,017,194 - 40,028,047 (+)	Ensembl	Sscrofa11.1		susScr11	Sscrofa11.1
Sscrofa11.1	3	40,017,161 - 40,021,736 (+)	NCBI	Sscrofa11.1	Sscrofa11.1	susScr11	Sscrofa11.1

MSRB1
(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	5	1,836,059 - 1,841,132 (-)	NCBI	ChlSab1.1	ChlSab1.1	chlSab2
Vero_WHO_p1.0	NW_023666068	29,236,044 - 29,241,147 (+)	NCBI	Vero_WHO_p1.0	Vero_WHO_p1.0

Msrb1
(Heterocephalus glaber - naked mole-rat)

Naked Mole-Rat Assembly	Chr	Position (strand)	Source	Genome Browsers
Naked Mole-Rat Assembly	Chr	Position (strand)	Source	JBrowse	NCBI	UCSC	Ensembl
HetGla 1.0	NW_004624913	310,708 - 315,383 (+)	NCBI	HetGla_female_1.0	HetGla 1.0	hetGla2

Variants

Variants in MSRB1
6 total Variants

Clinical Variants

Name	Type	Condition(s)	Position(s)	Clinical significance
GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	copy number gain	See cases [RCV000052367]	Chr16:23141..11296695 [GRCh38] Chr16:73141..11390552 [GRCh37] Chr16:13141..11298053 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	copy number gain	See cases [RCV000052368]	Chr16:29941..2560460 [GRCh38] Chr16:79941..2610461 [GRCh37] Chr16:19941..2550462 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	copy number gain	See cases [RCV000052370]	Chr16:46766..3214623 [GRCh38] Chr16:96766..3264623 [GRCh37] Chr16:36766..3204624 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	copy number gain	See cases [RCV000052373]	Chr16:1221651..2233773 [GRCh38] Chr16:1271651..2283774 [GRCh37] Chr16:1211652..2223775 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:1816283-2020966)x3	copy number gain	See cases [RCV000052377]	Chr16:1816283..2020966 [GRCh38] Chr16:1866284..2070967 [GRCh37] Chr16:1806285..2010968 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	copy number loss	See cases [RCV000053253]	Chr16:46766..1997582 [GRCh38] Chr16:96766..2047583 [GRCh37] Chr16:36766..1987584 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	copy number gain	See cases [RCV000133780]	Chr16:46766..11525516 [GRCh38] Chr16:96766..11619372 [GRCh37] Chr16:36766..11526873 [NCBI36] Chr16:16p13.3-13.13	pathogenic
GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	copy number gain	See cases [RCV000135695]	Chr16:1850978..2116369 [GRCh38] Chr16:1900979..2166370 [GRCh37] Chr16:1840980..2106371 [NCBI36] Chr16:16p13.3	uncertain significance
GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	copy number gain	See cases [RCV000136687]	Chr16:46766..4247185 [GRCh38] Chr16:96766..4297186 [GRCh37] Chr16:36766..4237187 [NCBI36] Chr16:16p13.3	pathogenic
GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	copy number gain	See cases [RCV000139166]	Chr16:43732..13326806 [GRCh38] Chr16:93732..13420663 [GRCh37] Chr16:33732..13328164 [NCBI36] Chr16:16p13.3-13.12	pathogenic
GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	copy number gain	See cases [RCV000143710]	Chr16:666662..15743104 [GRCh38] Chr16:716662..15836961 [GRCh37] Chr16:656663..15744462 [NCBI36] Chr16:16p13.3-13.11	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:102839-28327676)x3	copy number gain	See cases [RCV000203445]	Chr16:102839..28327676 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-11.2(chr16:1279324-31926800)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207053]	Chr16:1279324..31926800 [GRCh37] Chr16:16p13.3-11.2	uncertain significance
GRCh37/hg19 16p13.3-12.3(chr16:1274615-19073133)x3	copy number gain	Breast ductal adenocarcinoma [RCV000207326]	Chr16:1274615..19073133 [GRCh37] Chr16:16p13.3-12.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1860861-2070554)x3	copy number gain	See cases [RCV000240428]	Chr16:1860861..2070554 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	copy number gain	See cases [RCV000446684]	Chr16:69193..90274381 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:78801-9169448)	copy number gain	See cases [RCV000446555]	Chr16:78801..9169448 [GRCh37] Chr16:16p13.3-13.2	pathogenic
GRCh37/hg19 16p13.3(chr16:97133-5122974)x3	copy number gain	See cases [RCV000445663]	Chr16:97133..5122974 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1991251-1997211)x3	copy number gain	See cases [RCV000448325]	Chr16:1991251..1997211 [GRCh37] Chr16:16p13.3	likely benign
GRCh37/hg19 16p13.3(chr16:643377-3125125)x3	copy number gain	See cases [RCV000510815]	Chr16:643377..3125125 [GRCh37] Chr16:16p13.3	uncertain significance
maternal UPD(16p)	complex	Hemimegalencephaly [RCV000494707]	Chr16:1280042..33710558 [GRCh37] Chr16:16p13.3-11.2	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	copy number gain	See cases [RCV000511296]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-12.2(chr16:85880-22442007)x3	copy number gain	See cases [RCV000511360]	Chr16:85880..22442007 [GRCh37] Chr16:16p13.3-12.2	pathogenic
NM_016332.4(MSRB1):c.14G>C (p.Ser5Thr)	single nucleotide variant	Inborn genetic diseases [RCV003259861]	Chr16:1943143 [GRCh38] Chr16:1993144 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	copy number gain	See cases [RCV000512138]	Chr16:85881..90155062 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3	copy number gain	See cases [RCV000512194]	Chr16:85880..19806921 [GRCh37] Chr16:16p13.3-12.3	pathogenic
GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3	copy number gain	See cases [RCV000510698]	Chr16:85880..9883129 [GRCh37] Chr16:16p13.3-13.2	pathogenic
GRCh37/hg19 16p13.3(chr16:1505184-4415346)x3	copy number gain	not provided [RCV000683745]	Chr16:1505184..4415346 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1734363-2285561)x1	copy number loss	not provided [RCV000683746]	Chr16:1734363..2285561 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-3216551)x3	copy number gain	not provided [RCV000683742]	Chr16:85880..3216551 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3-13.13(chr16:85880-11209288)x3	copy number gain	not provided [RCV000683743]	Chr16:85880..11209288 [GRCh37] Chr16:16p13.3-13.13	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3	copy number gain	not provided [RCV000738918]	Chr16:88165..90274695 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3	copy number gain	not provided [RCV000738915]	Chr16:61451..90294632 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3	copy number gain	not provided [RCV000738917]	Chr16:88165..90163275 [GRCh37] Chr16:16p13.3-q24.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1807896-2311160)x3	copy number gain	not provided [RCV000738986]	Chr16:1807896..2311160 [GRCh37] Chr16:16p13.3	benign
GRCh37/hg19 16p13.3(chr16:1813658-2319717)x3	copy number gain	not provided [RCV000738989]	Chr16:1813658..2319717 [GRCh37] Chr16:16p13.3	benign
GRCh37/hg19 16p13.3(chr16:109978-4316797)	copy number gain	Chromosome 16p13.3 duplication syndrome [RCV000767731]	Chr16:109978..4316797 [GRCh37] Chr16:16p13.3	pathogenic
NM_016332.4(MSRB1):c.135G>A (p.Ala45=)	single nucleotide variant	not provided [RCV000939628]	Chr16:1941326 [GRCh38] Chr16:1991327 [GRCh37] Chr16:16p13.3	likely benign
NC_000016.9:g.(?_624055)_(2115656_?)del	deletion	Tuberous sclerosis 2 [RCV000811345]	Chr16:624055..2115656 [GRCh37] Chr16:16p13.3	pathogenic
Single allele	inversion	Hereditary cancer-predisposing syndrome [RCV000850149]	Chr16:1566500..2119769 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.10:g.(?_1523498)_(2064447_?)del	deletion	Tuberous sclerosis 2 [RCV001032344]	Chr16:1573499..2114448 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-2053328)x1	copy number loss	not provided [RCV000849039]	Chr16:85880..2053328 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2148005_?)del	deletion	Tuberous sclerosis 2 [RCV001033183]	Chr16:624055..2148005 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2550979_?)dup	duplication	Idiopathic generalized epilepsy [RCV001033790]	Chr16:624055..2550979 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_1203718)_(2185710_?)del	deletion	Tuberous sclerosis 2 [RCV001033886]	Chr16:1203718..2185710 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:84485-5251013)x3	copy number gain	not provided [RCV001537890]	Chr16:84485..5251013 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:85880-5249457)x3	copy number gain	not provided [RCV001259749]	Chr16:85880..5249457 [GRCh37] Chr16:16p13.3	pathogenic
NC_000016.9:g.(?_624055)_(2153916_?)dup	duplication	Epilepsy [RCV001344085]\|Idiopathic generalized epilepsy [RCV001316565]	Chr16:624055..2153916 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.10:g.1851807_2093151del	deletion	Tuberous sclerosis 2 [RCV001257345]	Chr16:1851807..2093151 [GRCh38] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1847662-2653144)	copy number gain	not specified [RCV002052502]	Chr16:1847662..2653144 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1830141-2592737)x3	copy number gain	not provided [RCV001827737]	Chr16:1830141..2592737 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(5971108_?)dup	duplication	Familial Mediterranean fever [RCV001877532]\|Fanconi anemia [RCV001877533]\|not provided [RCV001877531]	Chr16:256302..5971108 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.9:g.(?_256302)_(4852572_?)dup	duplication	Epilepsy [RCV003113403]\|Idiopathic generalized epilepsy [RCV003109446]\|Saldino-Mainzer syndrome [RCV003113404]	Chr16:256302..4852572 [GRCh37] Chr16:16p13.3	uncertain significance
NC_000016.10:g.1903155_2093402del	deletion	Tuberous sclerosis 2 [RCV002267197]	Chr16:1903155..2093402 [GRCh38] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:111043-6627459)x3	copy number gain	See cases [RCV002292215]	Chr16:111043..6627459 [GRCh37] Chr16:16p13.3	pathogenic
GRCh37/hg19 16p13.3(chr16:1129080-2021055)x3	copy number gain	not provided [RCV002473769]	Chr16:1129080..2021055 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1942430-2653144)x3	copy number gain	not provided [RCV002473837]	Chr16:1942430..2653144 [GRCh37] Chr16:16p13.3	uncertain significance
NM_016332.4(MSRB1):c.58G>A (p.Val20Ile)	single nucleotide variant	Inborn genetic diseases [RCV002689213]	Chr16:1941403 [GRCh38] Chr16:1991404 [GRCh37] Chr16:16p13.3	likely benign
NM_016332.4(MSRB1):c.205G>A (p.Val69Met)	single nucleotide variant	Inborn genetic diseases [RCV002704684]	Chr16:1940892 [GRCh38] Chr16:1990893 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:811896-2130379)x1	copy number loss	not provided [RCV003222891]	Chr16:811896..2130379 [GRCh37] Chr16:16p13.3	pathogenic
NM_016332.4(MSRB1):c.22G>C (p.Gly8Arg)	single nucleotide variant	Inborn genetic diseases [RCV003361473]	Chr16:1943135 [GRCh38] Chr16:1993136 [GRCh37] Chr16:16p13.3	uncertain significance
GRCh37/hg19 16p13.3(chr16:1054247-2592737)x3	copy number gain	not provided [RCV003485080]	Chr16:1054247..2592737 [GRCh37] Chr16:16p13.3	likely pathogenic

miRNA Target Status

Predicted Target Of

	Summary Value
Count of predictions:	1841
Count of miRNA genes:	794
Interacting mature miRNAs:	913
Transcripts:	ENST00000361871, ENST00000399753, ENST00000473663, ENST00000489198, ENST00000564908
Prediction methods:	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.

Markers in Region

RH80593

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,988,254 - 1,988,501	UniSTS	GRCh37
Build 36	16	1,928,255 - 1,928,502	RGD	NCBI36
Celera	16	2,200,462 - 2,200,709	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,912,856 - 1,913,103	UniSTS
GeneMap99-GB4 RH Map	16	44.24	UniSTS

RH93499

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,994,657 - 1,994,853	UniSTS	GRCh37
Build 36	16	1,934,658 - 1,934,854	RGD	NCBI36
Celera	16	2,206,861 - 2,207,057	RGD
Cytogenetic Map	16	p13.3	UniSTS
HuRef	16	1,919,259 - 1,919,455	UniSTS
GeneMap99-GB4 RH Map	16	64.13	UniSTS

SEPX1_9756

Human Assembly	Chr	Position (strand)	Source	JBrowse
GRCh37	16	1,988,232 - 1,988,941	UniSTS	GRCh37
Build 36	16	1,928,233 - 1,928,942	RGD	NCBI36
Celera	16	2,200,440 - 2,201,149	RGD
HuRef	16	1,912,834 - 1,913,543	UniSTS

Expression

RNA-SEQ Expression

High: > 1000 TPM value Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system

circulatory system

endocrine system

exocrine system

hemolymphoid system

hepatobiliary system

integumental system

musculoskeletal system

nervous system

renal system

reproductive system

respiratory system

sensory system

visual system

adipose tissue

appendage

entire extraembryonic component

pharyngeal arch

High

146

Medium

2378

2600

1582

564

1731

463

4275

2046

2563

413

1412

1551

115

1145

2759

Low

243

143

150

1162

Below cutoff

View RNA-SEQ Expression Data

Sequence

Nucleotide Sequences


RefSeq Transcripts	NM_001382264	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_001382265	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	NM_016332	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
GenBank Nucleotide	AC005363	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AE006640	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF161388	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF166124	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AF187272	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AI183441	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AK026128	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	AM410632	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	BC003127	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CF134919	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CH471112	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles
	CP068262	(Get FASTA)	NCBI Sequence Viewer	Search GEO for Microarray Profiles

RefSeq Acc Id:

ENST00000361871 ⟹ ENSP00000355084

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,938,229 - 1,943,199 (-)	Ensembl

RefSeq Acc Id:

ENST00000399753 ⟹ ENSP00000382657

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,939,019 - 1,943,195 (-)	Ensembl

RefSeq Acc Id:

ENST00000473663 ⟹ ENSP00000457320

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,938,942 - 1,943,123 (-)	Ensembl

RefSeq Acc Id:

ENST00000489198

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,940,978 - 1,941,939 (-)	Ensembl

RefSeq Acc Id:

ENST00000564908 ⟹ ENSP00000456557

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,939,095 - 1,943,199 (-)	Ensembl

RefSeq Acc Id:

ENST00000622125 ⟹ ENSP00000480943

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38.p14 Ensembl	16	1,938,234 - 1,943,293 (-)	Ensembl

RefSeq Acc Id:

NM_001382264 ⟹ NP_001369193

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,938,229 - 1,943,199 (-)	NCBI
T2T-CHM13v2.0	16	1,958,200 - 1,963,171 (-)	NCBI

Sequence:

show sequence

GGTCAGTTGGCAGCGGCAAGCGCGCTGCGGTTCCGGTGGCGCCATGTCGTTCTGCAGCTTCTTC
GGGGGCGAGGTTTTCCAGAATCACTTTGAACCTGGCGTTTACGTGTGTGCCAAGTGTGGCTATG
AGCTGTTCTCCAGCCGCTCGAAGTATGCACACTCGTCTCCATGGCCGGCGTTCACCGAGACCAT
TCACGCCGACAGCGTGGCCAAGCGTGTCCTGTGGCAAGTGTGGCAATGGGTTGGGCCACGAGTT
CCTGAACGACGGCCCCAAGCCGGGGCAGTCCCGATTCTGAATATTCAGCAGCTCGCTGAAGTTT
GTCCCTAAAGGCAAAGAAACTTCTGCCTCCCAGGGTCACTAGGCGGGCAGCCCACACCCACCCC
AGACGGCCACCACACTGAGGCCACACGTTGGCCATTCCACCTTGGAGTTGGAACCCTGGGCGTC
GAGACAGGAAGGCAGGGCGCAGTGGTTGAAACATCAGGACACTCCCAAGGCCCCGGCTCTGAAC
AAGACCTTTTCGTTTCTTGGAAAAGAGACTCATTTGCTGATGGTTCATGCCTTCTGCTGGGACA
GGCCTGGGCTGTGCAGCCACACTGTCGGCTGACTTAGCCCCCTGCTCACTCTAGGTGCCTCCAG
GAGGTGAGCCCTGGGTGCAGCTGGTCTCTGAATGACGTTACACCCTCACCTTCTTTTCCTGGCC
CTGTCTCTGGACTCTCCCCTGTGAGGCCCAATTCCAAGACAGACTCTCGTCCTCACCGAAGCTT
AGGCCCACATCTCCCAGGCTGCTTAGGAGACAGAATGGAAACGGAGGCCGCCCCTGCCAGCCGC
CCTGGCCCTGGTCACTGCATGATCCGCTCTGGTCAAACCCTTCCAGGCCAGCCAGAGTGGGGAT
GGTCTGTGACCTGCTGGGAAGGCAGGCTGATGGGGCACACCCTTGGCCTCTCGTCCACGAGGGG
AGAAACCTAAACCCTGTTTCACAATCTGTGCGGAAGTAGCTTGCCTCACTTCTGCTTAGGAAAG
CGGCTGTTGCTCCATAACTCTAACCAGCACAGGGCTGAGGCCTGCAGTGCACACCTGCAGGGAG
GCCCTTCCCAAGGTGTGGTGACTGTGCCTTACTGTACATGCTCGGAGGCCTGGCCATATAGGAG
GGTGGGTGATGCTGAAATCACCCCCCATCTTAAGTAATTACTTTCTGGAGTAATCAGGTGGAAA
TCCATAGACAAATGAAACATTCAGATGTA

hide sequence

RefSeq Acc Id:

NM_001382265 ⟹ NP_001369194

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,938,229 - 1,943,199 (-)	NCBI
T2T-CHM13v2.0	16	1,958,200 - 1,963,171 (-)	NCBI

Sequence:

show sequence

GGTCAGTTGGCAGCGGCAAGCGCGCTGCGGTTCCGGTGGCGCCATGTCGTTCTGCAGCTTCTTC
GGGGGCGAGGTTTTCCAGAATCACTTTGAACCTGGCGTTTACGTGTGTGCCAAGTGTGGCTATG
AGCTGTTCTCCAGCCGCTCGAAGTATGCACACTCGTCTCCATGGCCGGCGTTCACCGAGACCAT
TCACGCCGACAGCGTGGCCAAGCGTCCGGAGCACAATAGATCTGAAGCCTTGAAGGCAAAGAAA
CTTCTGCCTCCCAGGGTCACTAGGCGGGCAGCCCACACCCACCCCAGACGGCCACCACACTGAG
GCCACACGTTGGCCATTCCACCTTGGAGTTGGAACCCTGGGCGTCGAGACAGGAAGGCAGGGCG
CAGTGGTTGAAACATCAGGACACTCCCAAGGCCCCGGCTCTGAACAAGACCTTTTCGTTTCTTG
GAAAAGAGACTCATTTGCTGATGGTTCATGCCTTCTGCTGGGACAGGCCTGGGCTGTGCAGCCA
CACTGTCGGCTGACTTAGCCCCCTGCTCACTCTAGGTGCCTCCAGGAGGTGAGCCCTGGGTGCA
GCTGGTCTCTGAATGACGTTACACCCTCACCTTCTTTTCCTGGCCCTGTCTCTGGACTCTCCCC
TGTGAGGCCCAATTCCAAGACAGACTCTCGTCCTCACCGAAGCTTAGGCCCACATCTCCCAGGC
TGCTTAGGAGACAGAATGGAAACGGAGGCCGCCCCTGCCAGCCGCCCTGGCCCTGGTCACTGCA
TGATCCGCTCTGGTCAAACCCTTCCAGGCCAGCCAGAGTGGGGATGGTCTGTGACCTGCTGGGA
AGGCAGGCTGATGGGGCACACCCTTGGCCTCTCGTCCACGAGGGGAGAAACCTAAACCCTGTTT
CACAATCTGTGCGGAAGTAGCTTGCCTCACTTCTGCTTAGGAAAGCGGCTGTTGCTCCATAACT
CTAACCAGCACAGGGCTGAGGCCTGCAGTGCACACCTGCAGGGAGGCCCTTCCCAAGGTGTGGT
GACTGTGCCTTACTGTACATGCTCGGAGGCCTGGCCATATAGGAGGGTGGGTGATGCTGAAATC
ACCCCCCATCTTAAGTAATTACTTTCTGGAGTAATCAGGTGGAAATCCATAGACAAATGAAACA
TTCAGATGTA

hide sequence

RefSeq Acc Id:

NM_016332 ⟹ NP_057416

RefSeq Status:

REVIEWED

Type:

CODING

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,938,229 - 1,943,199 (-)	NCBI
GRCh37	16	1,988,234 - 1,993,294 (-)	RGD
Build 36	16	1,928,235 - 1,933,295 (-)	NCBI Archive
Celera	16	2,200,442 - 2,205,502 (-)	RGD
HuRef	16	1,912,836 - 1,917,896 (-)	ENTREZGENE
CHM1_1	16	1,988,182 - 1,993,242 (-)	NCBI
T2T-CHM13v2.0	16	1,958,200 - 1,963,171 (-)	NCBI

Sequence:

show sequence

GGTCAGTTGGCAGCGGCAAGCGCGCTGCGGTTCCGGTGGCGCCATGTCGTTCTGCAGCTTCTTC
GGGGGCGAGGTTTTCCAGAATCACTTTGAACCTGGCGTTTACGTGTGTGCCAAGTGTGGCTATG
AGCTGTTCTCCAGCCGCTCGAAGTATGCACACTCGTCTCCATGGCCGGCGTTCACCGAGACCAT
TCACGCCGACAGCGTGGCCAAGCGTCCGGAGCACAATAGATCTGAAGCCTTGAAGGTGTCCTGT
GGCAAGTGTGGCAATGGGTTGGGCCACGAGTTCCTGAACGACGGCCCCAAGCCGGGGCAGTCCC
GATTCTGAATATTCAGCAGCTCGCTGAAGTTTGTCCCTAAAGGCAAAGAAACTTCTGCCTCCCA
GGGTCACTAGGCGGGCAGCCCACACCCACCCCAGACGGCCACCACACTGAGGCCACACGTTGGC
CATTCCACCTTGGAGTTGGAACCCTGGGCGTCGAGACAGGAAGGCAGGGCGCAGTGGTTGAAAC
ATCAGGACACTCCCAAGGCCCCGGCTCTGAACAAGACCTTTTCGTTTCTTGGAAAAGAGACTCA
TTTGCTGATGGTTCATGCCTTCTGCTGGGACAGGCCTGGGCTGTGCAGCCACACTGTCGGCTGA
CTTAGCCCCCTGCTCACTCTAGGTGCCTCCAGGAGGTGAGCCCTGGGTGCAGCTGGTCTCTGAA
TGACGTTACACCCTCACCTTCTTTTCCTGGCCCTGTCTCTGGACTCTCCCCTGTGAGGCCCAAT
TCCAAGACAGACTCTCGTCCTCACCGAAGCTTAGGCCCACATCTCCCAGGCTGCTTAGGAGACA
GAATGGAAACGGAGGCCGCCCCTGCCAGCCGCCCTGGCCCTGGTCACTGCATGATCCGCTCTGG
TCAAACCCTTCCAGGCCAGCCAGAGTGGGGATGGTCTGTGACCTGCTGGGAAGGCAGGCTGATG
GGGCACACCCTTGGCCTCTCGTCCACGAGGGGAGAAACCTAAACCCTGTTTCACAATCTGTGCG
GAAGTAGCTTGCCTCACTTCTGCTTAGGAAAGCGGCTGTTGCTCCATAACTCTAACCAGCACAG
GGCTGAGGCCTGCAGTGCACACCTGCAGGGAGGCCCTTCCCAAGGTGTGGTGACTGTGCCTTAC
TGTACATGCTCGGAGGCCTGGCCATATAGGAGGGTGGGTGATGCTGAAATCACCCCCCATCTTA
AGTAATTACTTTCTGGAGTAATCAGGTGGAAATCCATAGACAAATGAAACATTCAGATGTA

hide sequence

Protein Sequences


Protein RefSeqs	NP_001369193	(Get FASTA)	NCBI Sequence Viewer
	NP_001369194	(Get FASTA)	NCBI Sequence Viewer
	NP_057416	(Get FASTA)	NCBI Sequence Viewer
GenBank Protein	AAF21429	(Get FASTA)	NCBI Sequence Viewer
	AAF28948	(Get FASTA)	NCBI Sequence Viewer
	AAG17033	(Get FASTA)	NCBI Sequence Viewer
	AAH03127	(Get FASTA)	NCBI Sequence Viewer
	AAK61300	(Get FASTA)	NCBI Sequence Viewer
	EAW85600	(Get FASTA)	NCBI Sequence Viewer
	EAW85601	(Get FASTA)	NCBI Sequence Viewer
Ensembl Protein	ENSP00000355084
	ENSP00000355084.3
	ENSP00000382657.2
	ENSP00000456557.1
	ENSP00000457320.1
	ENSP00000517565.1
GenBank Protein	Q9NZV6	(Get FASTA)	NCBI Sequence Viewer

RefSeq Acc Id:	NP_057416 ⟸ NM_016332
- Peptide Label:	isoform 1
- UniProtKB:	Q9BTV2 (UniProtKB/Swiss-Prot), Q96RX6 (UniProtKB/Swiss-Prot), Q9P0B1 (UniProtKB/Swiss-Prot), Q9NZV6 (UniProtKB/Swiss-Prot)
- Sequence:	show sequence MSFCSFFGGEVFQNHFEPGVYVCAKCGYELFSSRSKYAHSSPWPAFTETIHADSVAKRPEHNRS EALKVSCGKCGNGLGHEFLNDGPKPGQSRFUIFSSSLKFVPKGKETSASQGH hide sequence

RefSeq Acc Id:	NP_001369193 ⟸ NM_001382264
- Peptide Label:	isoform 2

RefSeq Acc Id:	NP_001369194 ⟸ NM_001382265
- Peptide Label:	isoform 3

RefSeq Acc Id:

ENSP00000382657 ⟸ ENST00000399753

RefSeq Acc Id:

ENSP00000480943 ⟸ ENST00000622125

RefSeq Acc Id:

ENSP00000355084 ⟸ ENST00000361871

RefSeq Acc Id:

ENSP00000456557 ⟸ ENST00000564908

RefSeq Acc Id:

ENSP00000457320 ⟸ ENST00000473663

Protein Domains

MsrB

Promoters

RGD ID:

6793439

Promoter ID:

HG_KWN:22741

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

HeLa_S3, K562, Lymphoblastoid

Transcripts:

OTTHUMT00000251204

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	1,932,046 - 1,932,546 (-)	MPROMDB

RGD ID:

6793445

Promoter ID:

HG_KWN:22742

Type:

CpG-Island

SO ACC ID:

SO:0000170

Source:

MPROMDB

Tissues & Cell Lines:

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

Transcripts:

ENST00000361871, ENST00000399753, OTTHUMT00000251205

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	1,932,964 - 1,933,464 (-)	MPROMDB

RGD ID:

6852800

Promoter ID:

EP74215

Type:

initiation region

Name:

HS_SEPX1

Description:

Selenoprotein X, 1.

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Mammalian gene collection (MGC) full-length cDNA cloning

Position:

Human Assembly	Chr	Position (strand)	Source
Build 36	16	1,933,191 - 1,933,251	EPD

RGD ID:

7230957

Promoter ID:

EPDNEW_H21224

Type:

initiation region

Name:

MSRB1_1

Description:

methionine sulfoxide reductase B1

SO ACC ID:

SO:0000170

Source:

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

Experiment Methods:

Single-end sequencing.

Position:

Human Assembly	Chr	Position (strand)	Source
GRCh38	16	1,943,195 - 1,943,255	EPDNEW

Additional Information

External Database Links

Database	Acc Id	Source(s)
AGR Gene	HGNC:14133	AgrOrtholog
COSMIC	MSRB1	COSMIC
Ensembl Genes	ENSG00000198736	Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	ENSG00000291928	UniProtKB/Swiss-Prot
Ensembl Transcript	ENST00000361871	ENTREZGENE
	ENST00000361871.8	UniProtKB/Swiss-Prot
	ENST00000399753.2	UniProtKB/TrEMBL
	ENST00000473663.1	UniProtKB/TrEMBL
	ENST00000564908.1	UniProtKB/TrEMBL
	ENST00000709225.1	UniProtKB/Swiss-Prot
Gene3D-CATH	Peptide methionine sulfoxide reductase	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx	ENSG00000198736	GTEx
	ENSG00000291928	GTEx
HGNC ID	HGNC:14133	ENTREZGENE
Human Proteome Map	MSRB1	Human Proteome Map
InterPro	Met_Sox_Rdtase_MsrB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
	Mss4-like_sf	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report	hsa:51734	UniProtKB/Swiss-Prot
NCBI Gene	51734	ENTREZGENE
OMIM	606216	OMIM
PANTHER	L-METHIONINE (R)-S-OXIDE REDUCTASE	UniProtKB/TrEMBL
	METHIONINE-R-SULFOXIDE REDUCTASE B1	UniProtKB/Swiss-Prot
	METHIONINE-R-SULFOXIDE REDUCTASE B1	UniProtKB/Swiss-Prot
	METHIONINE-R-SULFOXIDE REDUCTASE B1	UniProtKB/TrEMBL
	METHIONINE-R-SULFOXIDE REDUCTASE B1	UniProtKB/TrEMBL
Pfam	SelR	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB	PA37848	PharmGKB
PROSITE	MSRB	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP	SSF51316	UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt	A8MYR2_HUMAN	UniProtKB/TrEMBL
	H3BS64_HUMAN	UniProtKB/TrEMBL
	H3BTT6_HUMAN	UniProtKB/TrEMBL
	MSRB1_HUMAN	UniProtKB/Swiss-Prot
	Q96RX6	ENTREZGENE
	Q9BTV2	ENTREZGENE
	Q9NZV6	ENTREZGENE
	Q9P0B1	ENTREZGENE
UniProt Secondary	Q96RX6	UniProtKB/Swiss-Prot
	Q9BTV2	UniProtKB/Swiss-Prot
	Q9P0B1	UniProtKB/Swiss-Prot

Nomenclature History

Date	Current Symbol	Current Name	Previous Symbol	Previous Name	Description	Reference	Status
2012-03-06	MSRB1	methionine sulfoxide reductase B1	SEPX1	selenoprotein X, 1	Symbol and/or name change	5135510	APPROVED

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

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

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar