SELENOP (selenoprotein P) - Rat Genome Database

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Gene: SELENOP (selenoprotein P) Homo sapiens
Analyze
Symbol: SELENOP
Name: selenoprotein P
RGD ID: 737591
HGNC Page HGNC:10751
Description: Predicted to enable selenium binding activity. Predicted to be involved in selenium compound metabolic process. Predicted to act upstream of or within several processes, including brain development; locomotory behavior; and regulation of growth. Located in extracellular exosome. Biomarker of colorectal adenoma; colorectal carcinoma; and systemic scleroderma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: selenoprotein P, plasma, 1; SELP; SeP; SEPP; SEPP1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38542,799,880 - 42,811,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl542,799,880 - 42,887,392 (-)EnsemblGRCh38hg38GRCh38
GRCh37542,799,982 - 42,811,994 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36542,835,739 - 42,847,781 (-)NCBINCBI36Build 36hg18NCBI36
Build 34542,835,746 - 42,847,717NCBI
Celera542,689,516 - 42,701,558 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef542,751,403 - 42,763,445 (-)NCBIHuRef
CHM1_1542,801,878 - 42,813,920 (-)NCBICHM1_1
T2T-CHM13v2.0543,052,823 - 43,064,836 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-catechin  (EXP)
(2,4,5-trichlorophenoxy)acetic acid  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
17beta-hydroxy-17-methylestra-4,9,11-trien-3-one  (EXP)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
2,6-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP,ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
7,12-dimethyltetraphene  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
aldehydo-D-glucose  (ISO)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (EXP,ISO)
bromobenzene  (ISO)
Butylbenzyl phthalate  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
carbon nanotube  (ISO)
cefaloridine  (ISO)
cerium trichloride  (EXP)
chlorpyrifos  (ISO)
clofibrate  (ISO)
clorgyline  (EXP)
colforsin daropate hydrochloride  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
copper(II) chloride  (EXP)
copper(II) sulfate  (EXP)
corticosterone  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
cyclosporin A  (EXP)
D-glucose  (ISO)
DDT  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dicrotophos  (EXP)
diethyl maleate  (EXP)
diethyl phthalate  (ISO)
diisobutyl phthalate  (ISO)
diisononyl phthalate  (ISO)
dioxygen  (EXP,ISO)
disodium selenite  (EXP,ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP,ISO)
Enterolactone  (EXP)
entinostat  (EXP)
enzalutamide  (EXP)
ethanol  (ISO)
flutamide  (ISO)
furan  (ISO)
glucose  (ISO)
hydrogen peroxide  (EXP)
hydroquinone  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
lanthanum trichloride  (EXP)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP,ISO)
lycopene  (EXP)
medroxyprogesterone acetate  (EXP)
menadione  (EXP)
mercury atom  (EXP)
mercury dibromide  (EXP)
mercury(0)  (EXP)
metformin  (ISO)
methamphetamine  (ISO)
methidathion  (ISO)
methotrexate  (EXP)
methylmercury chloride  (EXP)
Muraglitazar  (ISO)
N,N-diethyl-m-toluamide  (ISO)
N-methyl-N'-nitro-N-nitrosoguanidine  (ISO)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
ochratoxin A  (ISO)
okadaic acid  (ISO)
ozone  (EXP,ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
PhIP  (ISO)
phorbol 13-acetate 12-myristate  (ISO)
pirinixic acid  (ISO)
progesterone  (ISO)
propanal  (EXP)
Pyridostigmine bromide  (ISO)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
SB 431542  (EXP)
Se-methyl-L-selenocysteine  (EXP)
Se-methylselenocysteine  (EXP)
selenium atom  (EXP,ISO)
silicon dioxide  (EXP)
silver atom  (EXP,ISO)
silver(0)  (EXP,ISO)
sodium arsenite  (EXP,ISO)
sodium dichromate  (ISO)
streptozocin  (ISO)
sulforaphane  (EXP)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
tremolite asbestos  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
wortmannin  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function
protein binding  (ISO)
selenium binding  (IBA,IEA,TAS)

References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. Expression of Selenoprotein Genes and Association with Selenium Status in Colorectal Adenoma and Colorectal Cancer. Hughes DJ, etal., Nutrients. 2018 Nov 21;10(11). pii: nu10111812. doi: 10.3390/nu10111812.
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. Selenium and Copper as Biomarkers for Pulmonary Arterial Hypertension in Systemic Sclerosis. Sun Q, etal., Nutrients. 2020 Jun 25;12(6):1894. doi: 10.3390/nu12061894.
Additional References at PubMed
PMID:7931697   PMID:8125298   PMID:8142465   PMID:8421687   PMID:8884283   PMID:9735174   PMID:9915822   PMID:9918658   PMID:10775431   PMID:10782998   PMID:11278668   PMID:11280803  
PMID:11442337   PMID:12173025   PMID:12423375   PMID:12477932   PMID:14702039   PMID:14718574   PMID:15489334   PMID:15604093   PMID:16335786   PMID:16335952   PMID:16344560   PMID:17245539  
PMID:17511039   PMID:17536041   PMID:17601350   PMID:17937618   PMID:17961124   PMID:17986007   PMID:18483336   PMID:18676680   PMID:18977241   PMID:19074884   PMID:19170196   PMID:19199708  
PMID:19215687   PMID:19453253   PMID:19513589   PMID:19625176   PMID:19692168   PMID:19747622   PMID:19779296   PMID:20029029   PMID:20178852   PMID:20237496   PMID:20360971   PMID:20378690  
PMID:20521393   PMID:20542496   PMID:20565998   PMID:20800603   PMID:20852007   PMID:20875901   PMID:21035759   PMID:21052528   PMID:21456065   PMID:21677040   PMID:21873635   PMID:21988832  
PMID:22479358   PMID:22496878   PMID:22715394   PMID:22932905   PMID:23056383   PMID:23064117   PMID:23129481   PMID:23268326   PMID:23383108   PMID:23533145   PMID:23760059   PMID:23770201  
PMID:24039907   PMID:24055274   PMID:24157689   PMID:24161883   PMID:24257750   PMID:24278290   PMID:24361887   PMID:24437729   PMID:24563517   PMID:24638201   PMID:24708917   PMID:24914767  
PMID:25395084   PMID:26348725   PMID:26399395   PMID:26514640   PMID:26658762   PMID:26675765   PMID:26944060   PMID:27371843   PMID:27524654   PMID:27645994   PMID:27881738   PMID:27908419  
PMID:28064116   PMID:28190280   PMID:28263310   PMID:28459371   PMID:28598259   PMID:28696394   PMID:28700468   PMID:29069514   PMID:29314169   PMID:29609868   PMID:29636330   PMID:29648467  
PMID:29932230   PMID:30084959   PMID:30243837   PMID:30425271   PMID:30448992   PMID:30582190   PMID:30974086   PMID:31158358   PMID:31343991   PMID:31542866   PMID:32377302   PMID:32605214  
PMID:32735635   PMID:32838475   PMID:33094480   PMID:33266488   PMID:33388316   PMID:33938349   PMID:34099652   PMID:34563873   PMID:34616844   PMID:34884891   PMID:35205233   PMID:35205757  
PMID:35636018   PMID:35840466   PMID:35905604   PMID:37108730   PMID:37166989   PMID:37234930   PMID:37391553   PMID:37423160   PMID:37423559   PMID:37495908   PMID:38182643   PMID:38198038  


Genomics

Comparative Map Data
SELENOP
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38542,799,880 - 42,811,892 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl542,799,880 - 42,887,392 (-)EnsemblGRCh38hg38GRCh38
GRCh37542,799,982 - 42,811,994 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36542,835,739 - 42,847,781 (-)NCBINCBI36Build 36hg18NCBI36
Build 34542,835,746 - 42,847,717NCBI
Celera542,689,516 - 42,701,558 (-)NCBICelera
Cytogenetic Map5p12NCBI
HuRef542,751,403 - 42,763,445 (-)NCBIHuRef
CHM1_1542,801,878 - 42,813,920 (-)NCBICHM1_1
T2T-CHM13v2.0543,052,823 - 43,064,836 (-)NCBIT2T-CHM13v2.0
Selenop
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39153,300,249 - 3,309,992 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl153,298,029 - 3,309,990 (+)EnsemblGRCm39 Ensembl
GRCm38153,270,767 - 3,280,510 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl153,268,547 - 3,280,508 (+)EnsemblGRCm38mm10GRCm38
MGSCv37153,220,767 - 3,230,508 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36153,220,996 - 3,230,508 (+)NCBIMGSCv36mm8
Celera153,135,278 - 3,145,023 (+)NCBICelera
Cytogenetic Map15A1NCBI
cM Map151.84NCBI
Selenop
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8254,225,736 - 54,236,022 (+)NCBIGRCr8
mRatBN7.2252,498,123 - 52,508,409 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl252,498,339 - 52,508,852 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx259,598,067 - 59,608,378 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0257,656,824 - 57,667,108 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0252,686,704 - 52,697,013 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0253,105,912 - 53,116,198 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl253,109,684 - 53,114,858 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0272,138,104 - 72,148,390 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4252,451,883 - 52,462,263 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1252,380,331 - 52,390,794 (+)NCBI
Celera248,212,876 - 48,223,163 (+)NCBICelera
Cytogenetic Map2q16NCBI
Selenop
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0NW_00495542626,951,003 - 26,961,839 (-)NCBIChiLan1.0ChiLan1.0
SELENOP
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2467,522,907 - 67,535,008 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1565,676,533 - 65,688,634 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0567,570,087 - 67,582,192 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1572,615,983 - 72,628,069 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl572,619,607 - 72,627,213 (+)Ensemblpanpan1.1panPan2
SELENOP
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1466,953,060 - 66,964,162 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl466,956,405 - 66,959,043 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha466,635,228 - 66,646,329 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0467,462,747 - 67,473,870 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl467,466,077 - 67,468,723 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1467,206,571 - 67,217,687 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0467,337,043 - 67,348,110 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0467,872,590 - 67,883,663 (+)NCBIUU_Cfam_GSD_1.0
Selenop
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024407213231,204,901 - 231,215,935 (-)NCBIHiC_Itri_2
SpeTri2.0NW_004936518155,905 - 166,932 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SELENOP
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1627,537,885 - 27,631,130 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11627,537,885 - 27,547,863 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21629,021,931 - 29,031,923 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SELENOP
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1441,544,098 - 41,556,152 (-)NCBIChlSab1.1ChlSab1.1chlSab2
Vero_WHO_p1.0NW_02366607131,987,207 - 31,999,405 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Selenop
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475912,207,251 - 12,218,857 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SELENOP
24 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 5p14.1-q11.1(chr5:26593632-50288555)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051834]|See cases [RCV000051834] Chr5:26593632..50288555 [GRCh38]
Chr5:26593741..49584389 [GRCh37]
Chr5:26629498..49620146 [NCBI36]
Chr5:5p14.1-q11.1		 pathogenic
GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3 copy number gain See cases [RCV000051835] Chr5:35700480..45260029 [GRCh38]
Chr5:35700582..45260131 [GRCh37]
Chr5:35736339..45295888 [NCBI36]
Chr5:5p13.2-12		 pathogenic
GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3 copy number gain See cases [RCV000051836] Chr5:36374107..51103841 [GRCh38]
Chr5:36374209..50399675 [GRCh37]
Chr5:36409966..50435432 [NCBI36]
Chr5:5p13.2-q11.1		 pathogenic
GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3 copy number gain See cases [RCV000051810] Chr5:54839..45649861 [GRCh38]
Chr5:54954..45649963 [GRCh37]
Chr5:107954..45685720 [NCBI36]
Chr5:5p15.33-12		 pathogenic
NM_001085486.1(SEPP1):c.455C>T (p.Ser152Phe) single nucleotide variant Malignant melanoma [RCV000066943] Chr5:42804735 [GRCh38]
Chr5:42804837 [GRCh37]
Chr5:42840594 [NCBI36]
Chr5:5p12		 not provided
NM_001134848.1(CCDC152):c.736G>A (p.Asp246Asn) single nucleotide variant Malignant melanoma [RCV000066942] Chr5:42799752 [GRCh38]
Chr5:42799854 [GRCh37]
Chr5:42835611 [NCBI36]
Chr5:5p12		 not provided
GRCh38/hg38 5p13.1-12(chr5:41901984-42896060)x1 copy number loss See cases [RCV000134081] Chr5:41901984..42896060 [GRCh38]
Chr5:41902086..42896162 [GRCh37]
Chr5:41937843..42931919 [NCBI36]
Chr5:5p13.1-12		 pathogenic
GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3 copy number gain See cases [RCV000135453] Chr5:49978..46114984 [GRCh38]
Chr5:50093..46115086 [GRCh37]
Chr5:103093..46150843 [NCBI36]
Chr5:5p15.33-11		 pathogenic
GRCh38/hg38 5p12(chr5:42804738-43066986)x1 copy number loss See cases [RCV000136834] Chr5:42804738..43066986 [GRCh38]
Chr5:42804840..43067088 [GRCh37]
Chr5:42840597..43102845 [NCBI36]
Chr5:5p12		 benign
GRCh38/hg38 5p13.2-q12.1(chr5:35201559-61903141)x3 copy number gain See cases [RCV000137302] Chr5:35201559..61903141 [GRCh38]
Chr5:35201661..61198968 [GRCh37]
Chr5:35237418..61234725 [NCBI36]
Chr5:5p13.2-q12.1		 pathogenic
GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3 copy number gain See cases [RCV000138780] Chr5:22149..74412725 [GRCh38]
Chr5:22149..73708550 [GRCh37]
Chr5:75149..73744306 [NCBI36]
Chr5:5p15.33-q13.3		 pathogenic
GRCh38/hg38 5p13.1-12(chr5:41876210-42913877)x1 copy number loss See cases [RCV000141916] Chr5:41876210..42913877 [GRCh38]
Chr5:41876312..42913979 [GRCh37]
Chr5:41912069..42949736 [NCBI36]
Chr5:5p13.1-12		 uncertain significance
GRCh38/hg38 5p12(chr5:42720837-43251761)x3 copy number gain See cases [RCV000143351] Chr5:42720837..43251761 [GRCh38]
Chr5:42720939..43251863 [GRCh37]
Chr5:42756696..43287620 [NCBI36]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3 copy number gain See cases [RCV000239779] Chr5:13461664..46098927 [GRCh37]
Chr5:5p15.2-12		 pathogenic
GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3 copy number gain See cases [RCV000512120] Chr5:24281195..46389339 [GRCh37]
Chr5:5p14.2-11		 likely pathogenic
GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1 copy number loss See cases [RCV000511978] Chr5:17628741..176575720 [GRCh37]
Chr5:5p15.1-q35.2		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3 copy number gain See cases [RCV000512039] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789) copy number gain See cases [RCV000510723] Chr5:113577..180719789 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_005410.4(SELENOP):c.304C>G (p.His102Asp) single nucleotide variant not specified [RCV004298548] Chr5:42807008 [GRCh38]
Chr5:42807110 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3 copy number gain not provided [RCV000682542] Chr5:27227243..45685844 [GRCh37]
Chr5:5p14.1-12		 pathogenic
GRCh37/hg19 5p13.1-12(chr5:41879642-42911463)x1 copy number loss not provided [RCV000682549] Chr5:41879642..42911463 [GRCh37]
Chr5:5p13.1-12		 uncertain significance
GRCh37/hg19 5p15.33-q35.3(chr5:25328-180693344)x3 copy number gain not provided [RCV000744323] Chr5:25328..180693344 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:31351588-43480111)x3 copy number gain not provided [RCV000744593] Chr5:31351588..43480111 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p15.33-q35.3(chr5:13648-180905029)x3 copy number gain not provided [RCV000744317] Chr5:13648..180905029 [GRCh37]
Chr5:5p15.33-q35.3		 pathogenic
NM_005410.4(SELENOP):c.562C>T (p.Arg188Cys) single nucleotide variant not specified [RCV004288405] Chr5:42801304 [GRCh38]
Chr5:42801406 [GRCh37]
Chr5:5p12		 uncertain significance
Single allele deletion Neurodevelopmental disorder [RCV000787436] Chr5:14685137..149511942 [GRCh37]
Chr5:5p15.2-q32		 uncertain significance
NM_005410.4(SELENOP):c.416+10T>C single nucleotide variant not provided [RCV000970122] Chr5:42806886 [GRCh38]
Chr5:42806988 [GRCh37]
Chr5:5p12		 benign
NM_005410.4(SELENOP):c.54_55insG (p.Thr19fs) insertion not provided [RCV000923842] Chr5:42808299..42808300 [GRCh38]
Chr5:42808401..42808402 [GRCh37]
Chr5:5p12		 likely benign
NM_005410.4(SELENOP):c.690A>G (p.Gly230=) single nucleotide variant not provided [RCV000964980] Chr5:42801176 [GRCh38]
Chr5:42801278 [GRCh37]
Chr5:5p12		 benign
NM_005410.4(SELENOP):c.605C>T (p.Ser202Leu) single nucleotide variant not specified [RCV004304821] Chr5:42801261 [GRCh38]
Chr5:42801363 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.47C>T (p.Ser16Leu) single nucleotide variant not specified [RCV004332820] Chr5:42808307 [GRCh38]
Chr5:42808409 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p12(chr5:42802309-43040495)x1 copy number loss not provided [RCV000846615] Chr5:42802309..43040495 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p12(chr5:42600658-42844121)x3 copy number gain not provided [RCV000846473] Chr5:42600658..42844121 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3 copy number gain not provided [RCV000848003] Chr5:34453883..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.1-q11.1(chr5:38432180-49441945)x3 copy number gain not provided [RCV001005674] Chr5:38432180..49441945 [GRCh37]
Chr5:5p13.1-q11.1		 pathogenic
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3 copy number gain See cases [RCV001310288] Chr5:29081195..45294031 [GRCh37]
Chr5:5p13.3-12		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:36053583-46389339)x3 copy number gain musculoskeletal system issues [RCV002284293] Chr5:36053583..46389339 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3 copy number gain not provided [RCV001537930] Chr5:34984696..46405042 [GRCh37]
Chr5:5p13.2-11		 pathogenic
GRCh37/hg19 5p14.1-11(chr5:26382110-46389339) copy number gain not specified [RCV002053485] Chr5:26382110..46389339 [GRCh37]
Chr5:5p14.1-11		 pathogenic
NC_000005.9:g.(?_42688972)_(44388784_?)del deletion not provided [RCV001956361] Chr5:42688972..44388784 [GRCh37]
Chr5:5p12		 pathogenic
GRCh37/hg19 5p13.1-12(chr5:41879852-42906725)x1 copy number loss See cases [RCV002292201] Chr5:41879852..42906725 [GRCh37]
Chr5:5p13.1-12		 pathogenic
GRCh37/hg19 5p13.1-12(chr5:41879852-42913979)x1 copy number loss See cases [RCV002292202] Chr5:41879852..42913979 [GRCh37]
Chr5:5p13.1-12		 pathogenic
NM_005410.4(SELENOP):c.515G>A (p.Cys172Tyr) single nucleotide variant not specified [RCV004322638] Chr5:42804675 [GRCh38]
Chr5:42804777 [GRCh37]
Chr5:5p12		 uncertain significance
GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3 copy number gain not provided [RCV002474514] Chr5:29348753..46389339 [GRCh37]
Chr5:5p13.3-11		 pathogenic
NM_005410.4(SELENOP):c.45A>G (p.Pro15=) single nucleotide variant not provided [RCV003427458] Chr5:42808309 [GRCh38]
Chr5:42808411 [GRCh37]
Chr5:5p12		 likely benign
GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3 copy number gain See cases [RCV003482191] Chr5:29299893..45899898 [GRCh38]
Chr5:5p13.3-12		 likely pathogenic
NM_005410.4(SELENOP):c.290G>A (p.Arg97Gln) single nucleotide variant not specified [RCV004450441] Chr5:42807022 [GRCh38]
Chr5:42807124 [GRCh37]
Chr5:5p12		 likely benign
NM_005410.4(SELENOP):c.368T>C (p.Val123Ala) single nucleotide variant not specified [RCV004450443] Chr5:42806944 [GRCh38]
Chr5:42807046 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.220G>A (p.Val74Ile) single nucleotide variant not specified [RCV004450440] Chr5:42807092 [GRCh38]
Chr5:42807194 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.431T>C (p.Val144Ala) single nucleotide variant not specified [RCV004450445] Chr5:42804759 [GRCh38]
Chr5:42804861 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.884T>C (p.Leu295Ser) single nucleotide variant not specified [RCV004450447] Chr5:42800982 [GRCh38]
Chr5:42801084 [GRCh37]
Chr5:5p12		 likely benign
NM_005410.4(SELENOP):c.890C>G (p.Pro297Arg) single nucleotide variant not specified [RCV004450448] Chr5:42800976 [GRCh38]
Chr5:42801078 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.1081A>G (p.Thr361Ala) single nucleotide variant not specified [RCV004450438] Chr5:42800785 [GRCh38]
Chr5:42800887 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.382A>C (p.Asn128His) single nucleotide variant not specified [RCV004450444] Chr5:42806930 [GRCh38]
Chr5:42807032 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.607C>T (p.Pro203Ser) single nucleotide variant not specified [RCV004450446] Chr5:42801259 [GRCh38]
Chr5:42801361 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.1060A>C (p.Ile354Leu) single nucleotide variant not specified [RCV004450437] Chr5:42800806 [GRCh38]
Chr5:42800908 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.1103G>A (p.Arg368His) single nucleotide variant not specified [RCV004450439] Chr5:42800763 [GRCh38]
Chr5:42800865 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.1103G>C (p.Arg368Pro) single nucleotide variant not specified [RCV004663736] Chr5:42800763 [GRCh38]
Chr5:42800865 [GRCh37]
Chr5:5p12		 uncertain significance
NC_000005.9:g.(?_42688972)_(45303961_?)dup duplication Early infantile epileptic encephalopathy with suppression bursts [RCV004578960] Chr5:42688972..45303961 [GRCh37]
Chr5:5p12		 uncertain significance
NM_005410.4(SELENOP):c.112G>C (p.Asp38His) single nucleotide variant not specified [RCV004663735] Chr5:42808242 [GRCh38]
Chr5:42808344 [GRCh37]
Chr5:5p12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2197
Count of miRNA genes:770
Interacting mature miRNAs:876
Transcripts:ENST00000505309, ENST00000506078, ENST00000506577, ENST00000507920, ENST00000508937, ENST00000509276, ENST00000510650, ENST00000510965, ENST00000511224, ENST00000512980, ENST00000513303, ENST00000514218, ENST00000514403, ENST00000514985, ENST00000515626
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406989214GWAS638190_Hlevel of tetratricopeptide repeat protein 33 in blood serum QTL GWAS638190 (human)2e-12level of tetratricopeptide repeat protein 33 in blood serum54280425442804255Human
407353562GWAS1002538_HBMI-adjusted hip circumference QTL GWAS1002538 (human)1e-13BMI-adjusted hip circumferencehip circumference (CMO:0000014)54280732242807323Human

Markers in Region
RH78323  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,800,011 - 42,800,199UniSTSGRCh37
Build 36542,835,768 - 42,835,956RGDNCBI36
Celera542,689,545 - 42,689,733RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,751,432 - 42,751,620UniSTS
A006E08  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,802,052 - 42,802,168UniSTSGRCh37
Build 36542,837,809 - 42,837,925RGDNCBI36
Celera542,691,586 - 42,691,702RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,753,473 - 42,753,589UniSTS
GeneMap99-GB4 RH Map5155.15UniSTS
D5S2379  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,800,468 - 42,800,648UniSTSGRCh37
Build 36542,836,225 - 42,836,405RGDNCBI36
Celera542,690,002 - 42,690,182RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,751,889 - 42,752,069UniSTS
TNG Radiation Hybrid Map521428.0UniSTS
Stanford-G3 RH Map51702.0UniSTS
NCBI RH Map5178.9UniSTS
GeneMap99-G3 RH Map51697.0UniSTS
HUM00D2F10  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,800,131 - 42,800,280UniSTSGRCh37
Build 36542,835,888 - 42,836,037RGDNCBI36
Celera542,689,665 - 42,689,814RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,751,552 - 42,751,701UniSTS
TNG Radiation Hybrid Map521413.0UniSTS
Stanford-G3 RH Map51694.0UniSTS
NCBI RH Map5178.9UniSTS
GeneMap99-G3 RH Map51689.0UniSTS
HUM000AA35  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,800,131 - 42,800,280UniSTSGRCh37
Build 36542,835,888 - 42,836,037RGDNCBI36
Celera542,689,665 - 42,689,814RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,751,552 - 42,751,701UniSTS
TNG Radiation Hybrid Map521428.0UniSTS
Stanford-G3 RH Map51698.0UniSTS
NCBI RH Map5178.9UniSTS
GeneMap99-G3 RH Map51693.0UniSTS
STS-Z11793  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,800,021 - 42,800,208UniSTSGRCh37
Build 36542,835,778 - 42,835,965RGDNCBI36
Celera542,689,555 - 42,689,742RGD
Cytogenetic Map5p12UniSTS
Cytogenetic Map5q31UniSTS
HuRef542,751,442 - 42,751,629UniSTS
GeneMap99-GB4 RH Map5155.37UniSTS
WI-11922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,805,313 - 42,805,438UniSTSGRCh37
Build 36542,841,070 - 42,841,195RGDNCBI36
Celera542,694,847 - 42,694,972RGD
Cytogenetic Map5q31UniSTS
HuRef542,756,734 - 42,756,859UniSTS
G32328  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37542,802,052 - 42,802,168UniSTSGRCh37
Celera542,691,586 - 42,691,702UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map5p12UniSTS
HuRef542,753,473 - 42,753,589UniSTS


Expression

RNA-SEQ Expression

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 2426 2788 2242 4939 1724 2321 6 624 1852 465 2245 7195 6381 51 3719 1 837 1734 1587 170 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001085486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001093726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_005410 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC008945 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK225801 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL599162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833145 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU136519 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005244 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC015875 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC030009 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC040075 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC046152 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC058919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BI463468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068273 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA288385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ022288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM005482 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Z11793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000505309
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,804,669 - 42,808,405 (-)Ensembl
Ensembl Acc Id: ENST00000506078
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,806,583 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000506577   ⟹   ENSP00000425915
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,800,131 - 42,825,896 (-)Ensembl
Ensembl Acc Id: ENST00000507920   ⟹   ENSP00000473340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,800,819 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000508937
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,807,818 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000509276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,800,928 - 42,808,366 (-)Ensembl
Ensembl Acc Id: ENST00000510650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,806,583 - 42,811,889 (-)Ensembl
Ensembl Acc Id: ENST00000510965   ⟹   ENSP00000427414
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,801,238 - 42,811,893 (-)Ensembl
Ensembl Acc Id: ENST00000511224   ⟹   ENSP00000427671
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,800,112 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000512980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,799,883 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000513303
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,801,105 - 42,811,893 (-)Ensembl
Ensembl Acc Id: ENST00000514218   ⟹   ENSP00000421626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,800,934 - 42,887,392 (-)Ensembl
Ensembl Acc Id: ENST00000514403
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,801,200 - 42,807,298 (-)Ensembl
Ensembl Acc Id: ENST00000514985   ⟹   ENSP00000420939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,799,880 - 42,811,892 (-)Ensembl
Ensembl Acc Id: ENST00000515626
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl542,806,902 - 42,811,892 (-)Ensembl
RefSeq Acc Id: NM_001085486   ⟹   NP_001078955
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,799,880 - 42,811,892 (-)NCBI
GRCh37542,799,982 - 42,812,024 (-)ENTREZGENE
Build 36542,835,739 - 42,847,781 (-)NCBI Archive
HuRef542,751,403 - 42,763,445 (-)ENTREZGENE
CHM1_1542,801,878 - 42,813,920 (-)NCBI
T2T-CHM13v2.0543,052,823 - 43,064,836 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001093726   ⟹   NP_001087195
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,799,880 - 42,811,892 (-)NCBI
GRCh37542,799,982 - 42,812,024 (-)ENTREZGENE
Build 36542,835,739 - 42,847,781 (-)NCBI Archive
HuRef542,751,403 - 42,763,445 (-)ENTREZGENE
CHM1_1542,801,878 - 42,813,920 (-)NCBI
T2T-CHM13v2.0543,052,823 - 43,064,836 (-)NCBI
Sequence:
RefSeq Acc Id: NM_005410   ⟹   NP_005401
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,799,880 - 42,811,892 (-)NCBI
GRCh37542,799,982 - 42,812,024 (-)ENTREZGENE
Build 36542,835,739 - 42,847,781 (-)NCBI Archive
HuRef542,751,403 - 42,763,445 (-)ENTREZGENE
CHM1_1542,801,878 - 42,813,920 (-)NCBI
T2T-CHM13v2.0543,052,823 - 43,064,836 (-)NCBI
Sequence:
RefSeq Acc Id: NP_005401   ⟸   NM_005410
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6PI87 (UniProtKB/Swiss-Prot),   Q6PI43 (UniProtKB/Swiss-Prot),   Q6PD59 (UniProtKB/Swiss-Prot),   Q6PJF9 (UniProtKB/Swiss-Prot),   P49908 (UniProtKB/Swiss-Prot),   A0A182DWH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001078955   ⟸   NM_001085486
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6PI87 (UniProtKB/Swiss-Prot),   Q6PI43 (UniProtKB/Swiss-Prot),   Q6PD59 (UniProtKB/Swiss-Prot),   Q6PJF9 (UniProtKB/Swiss-Prot),   P49908 (UniProtKB/Swiss-Prot),   A0A182DWH7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001087195   ⟸   NM_001093726
- Peptide Label: isoform 2 precursor
- UniProtKB: P49908 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000425915   ⟸   ENST00000506577
Ensembl Acc Id: ENSP00000473340   ⟸   ENST00000507920
Ensembl Acc Id: ENSP00000427414   ⟸   ENST00000510965
Ensembl Acc Id: ENSP00000427671   ⟸   ENST00000511224
Ensembl Acc Id: ENSP00000421626   ⟸   ENST00000514218
Ensembl Acc Id: ENSP00000420939   ⟸   ENST00000514985
Protein Domains
Selenoprotein P C-terminal   Selenoprotein P N-terminal

Promoters
RGD ID:6869510
Promoter ID:EPDNEW_H7920
Type:initiation region
Name:SEPP1_1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7923  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38542,811,892 - 42,811,952EPDNEW
RGD ID:6803531
Promoter ID:HG_KWN:50055
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562
Transcripts:NM_001085486,   NM_001093726,   NM_005410,   UC010IVH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36542,847,404 - 42,847,904 (-)MPROMDB
RGD ID:6852940
Promoter ID:EP74289
Type:single initiation site
Name:HS_SEPP1
Description:Selenoprotein P, plasma, 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 AssemblyChrPosition (strand)Source
Build 36542,847,751 - 42,847,811EPD

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10751 AgrOrtholog
COSMIC SELENOP COSMIC
Ensembl Genes ENSG00000250722 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000506577.5 UniProtKB/Swiss-Prot
  ENST00000507920.5 UniProtKB/TrEMBL
  ENST00000510965.1 UniProtKB/TrEMBL
  ENST00000511224 ENTREZGENE
  ENST00000511224.5 UniProtKB/Swiss-Prot
  ENST00000514218.5 UniProtKB/TrEMBL
  ENST00000514985 ENTREZGENE
  ENST00000514985.6 UniProtKB/Swiss-Prot
GTEx ENSG00000250722 GTEx
HGNC ID HGNC:10751 ENTREZGENE
Human Proteome Map SELENOP Human Proteome Map
InterPro Selenoprotein-P_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SelP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SeP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6414 UniProtKB/Swiss-Prot
NCBI Gene 6414 ENTREZGENE
OMIM 601484 OMIM
PANTHER PTHR10105 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SELENOPROTEIN P UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam SelP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SelP_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35672 PharmGKB
UniProt A0A182DWH7 ENTREZGENE, UniProtKB/TrEMBL
  A0A182DWH8_HUMAN UniProtKB/TrEMBL
  P49908 ENTREZGENE
  Q6PD59 ENTREZGENE
  Q6PI43 ENTREZGENE
  Q6PI87 ENTREZGENE
  Q6PJF9 ENTREZGENE
  R4GMT5_HUMAN UniProtKB/TrEMBL
  SEPP1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q6PD59 UniProtKB/Swiss-Prot
  Q6PI43 UniProtKB/Swiss-Prot
  Q6PI87 UniProtKB/Swiss-Prot
  Q6PJF9 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-09-27 SELENOP  selenoprotein P  SEPP1  selenoprotein P, plasma, 1  Symbol and/or name change 5135510 APPROVED