ST3GAL1 (ST3 beta-galactoside alpha-2,3-sialyltransferase 1) - Rat Genome Database

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Gene: ST3GAL1 (ST3 beta-galactoside alpha-2,3-sialyltransferase 1) Homo sapiens
Analyze
Symbol: ST3GAL1
Name: ST3 beta-galactoside alpha-2,3-sialyltransferase 1
RGD ID: 1603709
HGNC Page HGNC:10862
Description: Enables beta-galactoside (CMP) alpha-2,3-sialyltransferase activity. Involved in ganglioside biosynthetic process via lactosylceramide and protein sialylation. Located in Golgi medial cisterna membrane; Golgi trans cisterna membrane; and trans-Golgi network membrane.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: alpha 2,3-ST 1; beta-galactoside alpha-2,3-sialyltransferase 1; CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1; DKFZp666E036; DKFZp779K2051; FLJ36548; Gal-beta-1,3-GalNAc-alpha-2,3-sialyltransferase; Gal-NAc6S; MGC9183; monosialoganglioside sialyltransferase; sialyltransferase 4A (beta-galactosidase alpha-2,3-sialytransferase); sialyltransferase 4A (beta-galactoside alpha-2,3-sialyltransferase); sialyltransferase 4A (beta-galactoside alpha-2,3-sialytransferase); SIAT4-A; SIAT4A; SIATFL; ST3GalA; ST3GalA.1; ST3GalI; ST3GalIA; ST3GalIA,1; ST3O
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: ST3GAL1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388133,454,848 - 133,571,887 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8133,454,848 - 133,571,926 (-)EnsemblGRCh38hg38GRCh38
GRCh378134,467,091 - 134,584,130 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,540,312 - 134,653,344 (-)NCBINCBI36Build 36hg18NCBI36
Celera8130,644,441 - 130,761,532 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8129,786,027 - 129,903,172 (-)NCBIHuRef
CHM1_18134,508,613 - 134,625,711 (-)NCBICHM1_1
T2T-CHM13v2.08134,578,690 - 134,699,857 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,4-dinitrotoluene  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (EXP,ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
antirheumatic drug  (EXP)
aristolochic acid A  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
benzene  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
carbon nanotube  (ISO)
carmustine  (EXP)
chlormequat chloride  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
disodium selenite  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
furan  (ISO)
gentamycin  (ISO)
lead diacetate  (EXP)
lithocholic acid  (EXP)
methamphetamine  (ISO)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
nickel atom  (EXP)
panobinostat  (EXP)
paracetamol  (ISO)
pentachlorophenol  (ISO)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
pioglitazone  (EXP)
pirinixic acid  (ISO)
potassium chromate  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
progesterone  (EXP)
propanal  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sotorasib  (EXP)
succimer  (ISO)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
testosterone  (ISO)
tetrachloromethane  (ISO)
tetracycline  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
triphenyl phosphate  (EXP,ISO)
troglitazone  (EXP)
tungsten  (ISO)
valproic acid  (ISO)
zinc protoporphyrin  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
2. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2187500   PMID:2541446   PMID:2542563   PMID:2649653   PMID:2829950   PMID:7655169   PMID:8027041   PMID:9182658   PMID:10504389   PMID:11690653   PMID:12477932   PMID:14702039  
PMID:14722111   PMID:15146197   PMID:15489334   PMID:16053379   PMID:17101770   PMID:17947642   PMID:18163389   PMID:18180429   PMID:18519826   PMID:19199708   PMID:19811634   PMID:19946888  
PMID:20200978   PMID:20379614   PMID:20534593   PMID:21873635   PMID:21988832   PMID:22534569   PMID:23275522   PMID:23549466   PMID:23903073   PMID:23990450   PMID:24002674   PMID:24039173  
PMID:24503447   PMID:25086069   PMID:26436774   PMID:26547933   PMID:27088512   PMID:27507811   PMID:28395125   PMID:28423672   PMID:28514442   PMID:28611215   PMID:28986522   PMID:29507755  
PMID:30040982   PMID:30252131   PMID:30375371   PMID:31784620   PMID:33177111   PMID:33203881   PMID:33961781   PMID:35507766   PMID:35696571   PMID:35748872   PMID:39069074  


Genomics

Comparative Map Data
ST3GAL1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh388133,454,848 - 133,571,887 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl8133,454,848 - 133,571,926 (-)EnsemblGRCh38hg38GRCh38
GRCh378134,467,091 - 134,584,130 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 368134,540,312 - 134,653,344 (-)NCBINCBI36Build 36hg18NCBI36
Celera8130,644,441 - 130,761,532 (-)NCBICelera
Cytogenetic Map8q24.22NCBI
HuRef8129,786,027 - 129,903,172 (-)NCBIHuRef
CHM1_18134,508,613 - 134,625,711 (-)NCBICHM1_1
T2T-CHM13v2.08134,578,690 - 134,699,857 (-)NCBIT2T-CHM13v2.0
St3gal1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391566,974,724 - 67,048,575 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1566,974,724 - 67,048,679 (-)EnsemblGRCm39 Ensembl
GRCm381567,102,875 - 67,176,946 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1567,102,875 - 67,176,830 (-)EnsemblGRCm38mm10GRCm38
MGSCv371566,934,437 - 67,008,444 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361566,932,544 - 66,943,661 (-)NCBIMGSCv36mm8
Celera1568,631,078 - 68,705,126 (-)NCBICelera
Cytogenetic Map15D2NCBI
cM Map1529.3NCBI
St3gal1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87100,734,300 - 100,802,443 (-)NCBIGRCr8
mRatBN7.2798,845,270 - 98,913,409 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl798,845,270 - 98,913,236 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7100,613,838 - 100,620,506 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07102,815,493 - 102,822,161 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07102,734,816 - 102,741,484 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07107,895,045 - 107,963,158 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7107,895,045 - 107,963,142 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07107,844,100 - 107,912,117 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47104,467,678 - 104,474,345 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17104,501,908 - 104,508,575 (-)NCBI
Celera795,394,954 - 95,401,620 (-)NCBICelera
Cytogenetic Map7q34NCBI
St3gal1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554617,960,690 - 7,976,183 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554617,960,901 - 8,036,221 (-)NCBIChiLan1.0ChiLan1.0
ST3GAL1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v27150,845,512 - 150,961,719 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan18126,359,998 - 126,476,139 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v08130,111,085 - 130,227,195 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.18133,084,835 - 133,200,568 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl8133,084,835 - 133,119,791 (-)Ensemblpanpan1.1panPan2
ST3GAL1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11329,853,182 - 29,949,004 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1329,846,834 - 29,872,918 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1329,830,205 - 29,927,340 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01330,212,500 - 30,309,474 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1330,212,502 - 30,309,314 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11329,938,815 - 30,035,946 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01330,038,392 - 30,135,676 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01330,387,979 - 30,485,232 (-)NCBIUU_Cfam_GSD_1.0
St3gal1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244053038,434,663 - 8,508,401 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647015,918,749 - 15,934,503 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647015,860,669 - 15,934,500 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
ST3GAL1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl47,896,554 - 7,909,505 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.147,814,492 - 7,911,053 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.247,685,469 - 7,776,994 (+)NCBISscrofa10.2Sscrofa10.2susScr3
ST3GAL1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.18127,885,018 - 127,929,865 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl8127,885,031 - 127,906,059 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603912,099,002 - 12,215,968 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
St3gal1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473522,528,976 - 22,589,666 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473522,510,500 - 22,589,666 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in ST3GAL1
31 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8q24.21-24.3(chr8:128220912-145049449)x3 copy number gain See cases [RCV000050830] Chr8:128220912..145049449 [GRCh38]
Chr8:129233158..146274835 [GRCh37]
Chr8:129302340..146245639 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q24.21-24.22(chr8:129176782-134170188)x1 copy number loss See cases [RCV000050751] Chr8:129176782..134170188 [GRCh38]
Chr8:130189028..135182431 [GRCh37]
Chr8:130258210..135251613 [NCBI36]
Chr8:8q24.21-24.22		 pathogenic
GRCh38/hg38 8q23.3-24.3(chr8:113580402-145054634)x3 copy number gain See cases [RCV000050638] Chr8:113580402..145054634 [GRCh38]
Chr8:114592631..146280020 [GRCh37]
Chr8:114661807..146250824 [NCBI36]
Chr8:8q23.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145049449)x3 copy number gain See cases [RCV000051206] Chr8:241530..145049449 [GRCh38]
Chr8:191530..146274835 [GRCh37]
Chr8:181530..146245639 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.22(chr8:133493189-134322208)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052818]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052818]|See cases [RCV000052818] Chr8:133493189..134322208 [GRCh38]
Chr8:134505432..135334451 [GRCh37]
Chr8:134574614..135403633 [NCBI36]
Chr8:8q24.22		 uncertain significance
GRCh38/hg38 8q22.1-24.3(chr8:95606052-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053677]|See cases [RCV000053677] Chr8:95606052..145054775 [GRCh38]
Chr8:96618280..146280161 [GRCh37]
Chr8:96687456..146250965 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000053678] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000053602] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:244417-145054775)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053604]|See cases [RCV000053604] Chr8:244417..145054775 [GRCh38]
Chr8:194417..146280161 [GRCh37]
Chr8:184417..146250965 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.21-24.23(chr8:126626164-137169427)x1 copy number loss See cases [RCV000054306] Chr8:126626164..137169427 [GRCh38]
Chr8:127638409..138181670 [GRCh37]
Chr8:127707591..138250852 [NCBI36]
Chr8:8q24.21-24.23		 pathogenic
GRCh37/hg19 8q13.2-24.3(chr8:68912432-146295771)x2 copy number gain See cases [RCV002292707] Chr8:68912432..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh38/hg38 8q24.21-24.3(chr8:130115518-141228210)x3 copy number gain See cases [RCV000133621] Chr8:130115518..141228210 [GRCh38]
Chr8:131127764..142238309 [GRCh37]
Chr8:131196946..142307491 [NCBI36]
Chr8:8q24.21-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:94682154-145068656)x3 copy number gain See cases [RCV000134353] Chr8:94682154..145068656 [GRCh38]
Chr8:95694382..146294042 [GRCh37]
Chr8:95763558..146264846 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.23(chr8:86300584-137022587)x3 copy number gain See cases [RCV000135621] Chr8:86300584..137022587 [GRCh38]
Chr8:87312813..138034830 [GRCh37]
Chr8:87381929..138104012 [NCBI36]
Chr8:8q21.3-24.23		 pathogenic|likely pathogenic
GRCh38/hg38 8q24.22-24.3(chr8:130639182-145068712)x3 copy number gain See cases [RCV000137644] Chr8:130639182..145068712 [GRCh38]
Chr8:131651428..146294098 [GRCh37]
Chr8:131720610..146264902 [NCBI36]
Chr8:8q24.22-24.3		 pathogenic|conflicting data from submitters
GRCh38/hg38 8q24.13-24.3(chr8:124498498-145068712)x3 copy number gain See cases [RCV000137346] Chr8:124498498..145068712 [GRCh38]
Chr8:125510739..146294098 [GRCh37]
Chr8:125579920..146264902 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh38/hg38 8q21.3-24.3(chr8:87931152-145068712)x3 copy number gain See cases [RCV000138551] Chr8:87931152..145068712 [GRCh38]
Chr8:88943380..146294098 [GRCh37]
Chr8:89012496..146264902 [NCBI36]
Chr8:8q21.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241605-145054781)x3 copy number gain See cases [RCV000138643] Chr8:241605..145054781 [GRCh38]
Chr8:191605..146280167 [GRCh37]
Chr8:181605..146250971 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:77480050-145068712)x3 copy number gain See cases [RCV000139036] Chr8:77480050..145068712 [GRCh38]
Chr8:78392286..146294098 [GRCh37]
Chr8:78554841..146264902 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8q22.1-24.3(chr8:97382873-145070385)x3 copy number gain See cases [RCV000140447] Chr8:97382873..145070385 [GRCh38]
Chr8:98395101..146295771 [GRCh37]
Chr8:98464277..146266575 [NCBI36]
Chr8:8q22.1-24.3		 pathogenic
GRCh38/hg38 8q11.1-24.3(chr8:46031340-139285494)x3 copy number gain See cases [RCV000139539] Chr8:46031340..139285494 [GRCh38]
Chr8:46942962..140297737 [GRCh37]
Chr8:47062127..140366919 [NCBI36]
Chr8:8q11.1-24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:100867343-145070385)x3 copy number gain See cases [RCV000141694] Chr8:100867343..145070385 [GRCh38]
Chr8:101879571..146295771 [GRCh37]
Chr8:101948747..146266575 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:208048-145070385)x3 copy number gain See cases [RCV000141808] Chr8:208048..145070385 [GRCh38]
Chr8:158048..146295771 [GRCh37]
Chr8:148048..146266575 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8p21.3-q24.3(chr8:21291522-145070385)x3 copy number gain See cases [RCV000142021] Chr8:21291522..145070385 [GRCh38]
Chr8:21149033..146295771 [GRCh37]
Chr8:21193313..146266575 [NCBI36]
Chr8:8p21.3-q24.3		 pathogenic
GRCh38/hg38 8q22.3-24.3(chr8:103306336-145068712)x3 copy number gain See cases [RCV000142810] Chr8:103306336..145068712 [GRCh38]
Chr8:104318564..146294098 [GRCh37]
Chr8:104387740..146264902 [NCBI36]
Chr8:8q22.3-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:226452-145068712)x3 copy number gain See cases [RCV000142858] Chr8:226452..145068712 [GRCh38]
Chr8:176452..146294098 [GRCh37]
Chr8:166452..146264902 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q21.13-24.3(chr8:78614077-145054634)x3 copy number gain See cases [RCV000142597] Chr8:78614077..145054634 [GRCh38]
Chr8:79526312..146280020 [GRCh37]
Chr8:79688867..146250824 [NCBI36]
Chr8:8q21.13-24.3		 pathogenic
GRCh38/hg38 8p23.3-q24.3(chr8:241530-145054634)x3 copy number gain See cases [RCV000148092] Chr8:241530..145054634 [GRCh38]
Chr8:191530..146280020 [GRCh37]
Chr8:181530..146250824 [NCBI36]
Chr8:8p23.3-q24.3		 pathogenic
GRCh38/hg38 8q24.22(chr8:132935590-133815152)x3 copy number gain See cases [RCV000143529] Chr8:132935590..133815152 [GRCh38]
Chr8:133947835..134827395 [GRCh37]
Chr8:134017017..134896577 [NCBI36]
Chr8:8q24.22		 uncertain significance
GRCh38/hg38 8q21.2-24.3(chr8:85765999-145070385)x3 copy number gain See cases [RCV000143659] Chr8:85765999..145070385 [GRCh38]
Chr8:86778228..146295771 [GRCh37]
Chr8:86863079..146266575 [NCBI36]
Chr8:8q21.2-24.3		 pathogenic
GRCh38/hg38 8q24.13-24.3(chr8:124514090-145054634)x3 copy number gain See cases [RCV000148117] Chr8:124514090..145054634 [GRCh38]
Chr8:125526331..146280020 [GRCh37]
Chr8:125595512..146250824 [NCBI36]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158991-146280828)x3 copy number gain See cases [RCV000447507] Chr8:158991..146280828 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:98432250-146222672)x4 copy number gain See cases [RCV000448954] Chr8:98432250..146222672 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771) copy number gain See cases [RCV000510234] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.3-24.3(chr8:93047482-141355635)x3 copy number gain See cases [RCV000511761] Chr8:93047482..141355635 [GRCh37]
Chr8:8q21.3-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158049-146295771)x3 copy number gain See cases [RCV000511095] Chr8:158049..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841154-146295771)x3 copy number gain See cases [RCV000511002] Chr8:86841154..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:86841228-142689874)x3 copy number gain See cases [RCV000510854] Chr8:86841228..142689874 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:114853126-146295771)x3 copy number gain See cases [RCV000512401] Chr8:114853126..146295771 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
GRCh37/hg19 8p23.1-q24.3(chr8:12490999-146295771)x3 copy number gain See cases [RCV000512169] Chr8:12490999..146295771 [GRCh37]
Chr8:8p23.1-q24.3		 pathogenic
GRCh37/hg19 8q24.22(chr8:134201586-134851366)x3 copy number gain not provided [RCV000682993] Chr8:134201586..134851366 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:121694649-146295771)x3 copy number gain not provided [RCV000683044] Chr8:121694649..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:164984-146293414)x3 copy number gain not provided [RCV000747254] Chr8:164984..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:10213-146293414)x3 copy number gain not provided [RCV000747248] Chr8:10213..146293414 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.22-24.3(chr8:133621137-140433338)x1 copy number loss not provided [RCV000747861] Chr8:133621137..140433338 [GRCh37]
Chr8:8q24.22-24.3		 likely pathogenic
NM_173344.3(ST3GAL1):c.684-8A>G single nucleotide variant not provided [RCV000971380] Chr8:133463467 [GRCh38]
Chr8:134475710 [GRCh37]
Chr8:8q24.22		 benign
NM_173344.3(ST3GAL1):c.192C>T (p.Cys64=) single nucleotide variant not provided [RCV000967106] Chr8:133475833 [GRCh38]
Chr8:134488076 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.13-24.3(chr8:126892814-143750028)x1 copy number loss not provided [RCV001006144] Chr8:126892814..143750028 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771) copy number gain Polydactyly [RCV002280629] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.22(chr8:124120772-135265846)x1 copy number loss not provided [RCV000848438] Chr8:124120772..135265846 [GRCh37]
Chr8:8q24.13-24.22		 pathogenic
GRCh37/hg19 8q24.22(chr8:131915430-135240074)x1 copy number loss not provided [RCV000845974] Chr8:131915430..135240074 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.12-24.3(chr8:122193546-146295771)x3 copy number gain not provided [RCV000849762] Chr8:122193546..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8p12-q24.3(chr8:31936551-146295771)x3 copy number gain not provided [RCV000848192] Chr8:31936551..146295771 [GRCh37]
Chr8:8p12-q24.3		 pathogenic
NM_173344.3(ST3GAL1):c.271G>A (p.Ala91Thr) single nucleotide variant not provided [RCV000959041] Chr8:133475754 [GRCh38]
Chr8:134487997 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not provided [RCV000848478] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q24.13-24.3(chr8:125496223-146295771)x3 copy number gain not provided [RCV000845705] Chr8:125496223..146295771 [GRCh37]
Chr8:8q24.13-24.3		 pathogenic
NM_173344.3(ST3GAL1):c.462T>C (p.Ser154=) single nucleotide variant not provided [RCV000947136] Chr8:133465935 [GRCh38]
Chr8:134478178 [GRCh37]
Chr8:8q24.22		 benign
GRCh37/hg19 8q24.21-24.3(chr8:131138343-143473913) copy number gain Distal trisomy 8q [RCV003325441] Chr8:131138343..143473913 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q24.12-24.3(chr8:121042467-146295771)x3 copy number gain not provided [RCV001006140] Chr8:121042467..146295771 [GRCh37]
Chr8:8q24.12-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128877995-146295771)x3 copy number gain not provided [RCV001006146] Chr8:128877995..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q21.2-24.3(chr8:84712253-146295771)x3 copy number gain See cases [RCV002285066] Chr8:84712253..146295771 [GRCh37]
Chr8:8q21.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:128878931-141662233)x3 copy number gain not provided [RCV001795855] Chr8:128878931..141662233 [GRCh37]
Chr8:8q24.21-24.3		 uncertain significance
GRCh37/hg19 8q13.2-24.3(chr8:70382990-146295771) copy number gain not specified [RCV002053772] Chr8:70382990..146295771 [GRCh37]
Chr8:8q13.2-24.3		 pathogenic
GRCh37/hg19 8q24.21-24.3(chr8:130863093-146295771) copy number gain not specified [RCV002053797] Chr8:130863093..146295771 [GRCh37]
Chr8:8q24.21-24.3		 pathogenic
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711) copy number gain not provided [RCV002221452] Chr8:96496503..146295711 [GRCh37]
Chr8:8q22.1-24.3		 pathogenic
GRCh37/hg19 8q24.22-24.23(chr8:134229655-137934713)x1 copy number loss not provided [RCV002472815] Chr8:134229655..137934713 [GRCh37]
Chr8:8q24.22-24.23		 uncertain significance
NM_173344.3(ST3GAL1):c.949G>A (p.Asp317Asn) single nucleotide variant not specified [RCV004171410] Chr8:133459838 [GRCh38]
Chr8:134472081 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.1015G>A (p.Gly339Arg) single nucleotide variant not specified [RCV004181611] Chr8:133459772 [GRCh38]
Chr8:134472015 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.4G>A (p.Val2Met) single nucleotide variant not specified [RCV004123451] Chr8:133476021 [GRCh38]
Chr8:134488264 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.826T>C (p.Phe276Leu) single nucleotide variant not specified [RCV004126187] Chr8:133461898 [GRCh38]
Chr8:134474141 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.77T>G (p.Leu26Arg) single nucleotide variant not specified [RCV004130252] Chr8:133475948 [GRCh38]
Chr8:134488191 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh38/hg38 8q23.3-24.23(chr8:115586904-135607135)x3 copy number gain Neurodevelopmental disorder [RCV003327615] Chr8:115586904..135607135 [GRCh38]
Chr8:8q23.3-24.23		 pathogenic
NM_173344.3(ST3GAL1):c.665C>T (p.Thr222Ile) single nucleotide variant not specified [RCV004309562] Chr8:133464796 [GRCh38]
Chr8:134477039 [GRCh37]
Chr8:8q24.22		 uncertain significance
GRCh37/hg19 8q24.22-24.23(chr8:131958531-136738670)x1 copy number loss not provided [RCV003483040] Chr8:131958531..136738670 [GRCh37]
Chr8:8q24.22-24.23		 uncertain significance
GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3 copy number gain not specified [RCV003986742] Chr8:158048..146295771 [GRCh37]
Chr8:8p23.3-q24.3		 pathogenic
GRCh37/hg19 8q23.3-24.3(chr8:113392581-146364022)x3 copy number gain not provided [RCV003885521] Chr8:113392581..146364022 [GRCh37]
Chr8:8q23.3-24.3		 pathogenic
NM_173344.3(ST3GAL1):c.1010T>G (p.Phe337Cys) single nucleotide variant not specified [RCV004463030] Chr8:133459777 [GRCh38]
Chr8:134472020 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.193A>G (p.Ile65Val) single nucleotide variant not specified [RCV004463031] Chr8:133475832 [GRCh38]
Chr8:134488075 [GRCh37]
Chr8:8q24.22		 likely benign
NM_173344.3(ST3GAL1):c.595G>A (p.Gly199Arg) single nucleotide variant not specified [RCV004463032] Chr8:133464866 [GRCh38]
Chr8:134477109 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.832A>T (p.Met278Leu) single nucleotide variant not specified [RCV004463033] Chr8:133461892 [GRCh38]
Chr8:134474135 [GRCh37]
Chr8:8q24.22		 likely benign
NM_173344.3(ST3GAL1):c.914C>T (p.Pro305Leu) single nucleotide variant not specified [RCV004463034] Chr8:133459873 [GRCh38]
Chr8:134472116 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.94A>G (p.Met32Val) single nucleotide variant not specified [RCV004463035] Chr8:133475931 [GRCh38]
Chr8:134488174 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.974C>T (p.Thr325Met) single nucleotide variant not specified [RCV004463036] Chr8:133459813 [GRCh38]
Chr8:134472056 [GRCh37]
Chr8:8q24.22		 uncertain significance
NM_173344.3(ST3GAL1):c.970G>A (p.Val324Met) single nucleotide variant not specified [RCV004679556] Chr8:133459817 [GRCh38]
Chr8:134472060 [GRCh37]
Chr8:8q24.22		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10463
Count of miRNA genes:1303
Interacting mature miRNAs:1717
Transcripts:ENST00000319914, ENST00000399640, ENST00000517668, ENST00000518298, ENST00000519435, ENST00000519924, ENST00000520020, ENST00000521180, ENST00000521627, ENST00000522204, ENST00000522285, ENST00000522652, ENST00000522873, ENST00000523634, ENST00000523854, ENST00000523855
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
407233988GWAS882964_HVertigo QTL GWAS882964 (human)0.000006Vertigo8133504369133504370Human
407165958GWAS814934_HCaffeic acid measurement QTL GWAS814934 (human)0.0000008Caffeic acid measurement8133500566133500567Human
406953925GWAS602901_Hcoiled-coil domain-containing protein 80 measurement QTL GWAS602901 (human)2e-12coiled-coil domain-containing protein 80 measurement8133529299133529300Human
406953860GWAS602836_Hcoiled-coil domain-containing protein 80 measurement QTL GWAS602836 (human)3e-38coiled-coil domain-containing protein 80 measurement8133458388133458389Human
407269571GWAS918547_Hserum metabolite measurement QTL GWAS918547 (human)0.000004serum metabolite measurement8133500566133500567Human
407033610GWAS682586_Hsquamous cell carcinoma QTL GWAS682586 (human)0.000008squamous cell carcinoma8133471452133471453Human
407165967GWAS814943_Hcaffeine measurement QTL GWAS814943 (human)0.00001caffeine measurement8133500566133500567Human
407392004GWAS1040980_Hheel bone mineral density, urate measurement QTL GWAS1040980 (human)3e-08heel bone mineral density, urate measurementblood uric acid level (CMO:0000501)8133457749133457750Human
407291409GWAS940385_Hbody height QTL GWAS940385 (human)4e-08body height (VT:0001253)body height (CMO:0000106)8133541360133541361Human
406901466GWAS550442_HCOVID-19 QTL GWAS550442 (human)0.000002COVID-198133472994133472995Human
407270301GWAS919277_Hserum metabolite measurement QTL GWAS919277 (human)0.000006serum metabolite measurement8133500566133500567Human
407157721GWAS806697_Hgut microbiome measurement QTL GWAS806697 (human)0.000003gut microbiome measurement8133550242133550243Human
407169626GWAS818602_Hblood protein measurement QTL GWAS818602 (human)1e-19blood protein measurementblood protein measurement (CMO:0000028)8133458118133458119Human
407383319GWAS1032295_Hblood protein measurement QTL GWAS1032295 (human)9e-37blood protein measurementblood protein measurement (CMO:0000028)8133536328133536329Human
406943521GWAS592497_HCMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement QTL GWAS592497 (human)6e-65CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement8133490905133490906Human
407231268GWAS880244_Hblood protein measurement QTL GWAS880244 (human)6e-13blood protein measurementblood protein measurement (CMO:0000028)8133458118133458119Human
407330661GWAS979637_Hbody weight QTL GWAS979637 (human)7e-09body mass (VT:0001259)body weight (CMO:0000012)8133566104133566105Human
406980516GWAS629492_Haspartate aminotransferase measurement QTL GWAS629492 (human)7e-10aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)8133543494133543495Human
406894568GWAS543544_HCMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement QTL GWAS543544 (human)1e-25CMP-N-acetylneuraminate-beta-galactosamide-alpha-2,3-sialyltransferase 1 measurement8133490905133490906Human
407056680GWAS705656_Hblood protein measurement QTL GWAS705656 (human)1e-13blood protein measurementblood protein measurement (CMO:0000028)8133477919133477920Human
407214697GWAS863673_Hblood protein measurement QTL GWAS863673 (human)2e-38blood protein measurementblood protein measurement (CMO:0000028)8133458118133458119Human
406988142GWAS637118_Heducational attainment QTL GWAS637118 (human)0.0000006educational attainment8133495661133495662Human
407233897GWAS882873_Hbone density QTL GWAS882873 (human)1e-300bone mineral mass (VT:0005007)bone mineral density (CMO:0001226)8133565734133565735Human
407268075GWAS917051_Hbody height QTL GWAS917051 (human)5e-35body height (VT:0001253)body height (CMO:0000106)8133559599133559600Human
407231915GWAS880891_Hblood protein measurement QTL GWAS880891 (human)6e-24blood protein measurementblood protein measurement (CMO:0000028)8133490905133490906Human
406988141GWAS637117_Heducational attainment QTL GWAS637117 (human)0.000005educational attainment8133487669133487670Human
407267767GWAS916743_Hbody height QTL GWAS916743 (human)2e-10body height (VT:0001253)body height (CMO:0000106)8133458388133458389Human
407331891GWAS980867_HIGF-1 measurement QTL GWAS980867 (human)4e-10IGF-1 measurementblood insulin-like growth factor 1 level (CMO:0001297)8133559375133559376Human
406996535GWAS645511_Hfrontal fibrosing alopecia QTL GWAS645511 (human)2e-08frontal fibrosing alopecia8133490986133490987Human
406944633GWAS593609_HP-selectin glycoprotein ligand 1 measurement QTL GWAS593609 (human)9e-35P-selectin glycoprotein ligand 1 measurement8133458388133458389Human
406944632GWAS593608_HP-selectin glycoprotein ligand 1 measurement QTL GWAS593608 (human)3e-36P-selectin glycoprotein ligand 1 measurement8133541360133541361Human
407287996GWAS936972_Haspartate aminotransferase measurement QTL GWAS936972 (human)2e-10aspartate aminotransferase measurementblood aspartate aminotransferase activity level (CMO:0000580)8133540088133540089Human
407140601GWAS789577_Hfunctional impairment measurement QTL GWAS789577 (human)0.000003functional impairment measurement8133462834133462835Human

Markers in Region
D8S1990  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,574,823 - 134,575,207UniSTSGRCh37
Build 368134,644,005 - 134,644,389RGDNCBI36
Celera8130,752,173 - 130,752,551RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,893,815 - 129,894,189UniSTS
Marshfield Genetic Map8150.51UniSTS
Marshfield Genetic Map8150.51RGD
deCODE Assembly Map8145.91UniSTS
D8S1708  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,571,230 - 134,571,328UniSTSGRCh37
Build 368134,640,412 - 134,640,510RGDNCBI36
Celera8130,748,576 - 130,748,678RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,890,214 - 129,890,316UniSTS
Marshfield Genetic Map8148.12RGD
Marshfield Genetic Map8148.12UniSTS
Genethon Genetic Map8147.5UniSTS
deCODE Assembly Map8145.91UniSTS
Whitehead-YAC Contig Map8 UniSTS
RH16392  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,575,507 - 134,575,689UniSTSGRCh37
Build 368134,644,689 - 134,644,871RGDNCBI36
Celera8130,752,851 - 130,753,033RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,894,489 - 129,894,671UniSTS
GeneMap99-GB4 RH Map8516.78UniSTS
RH45430  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,573,372 - 134,573,562UniSTSGRCh37
Build 368134,642,554 - 134,642,744RGDNCBI36
Celera8130,750,722 - 130,750,912RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,892,360 - 129,892,550UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
NCBI RH Map81520.9UniSTS
RH98815  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,468,154 - 134,468,344UniSTSGRCh37
Build 368134,537,336 - 134,537,526RGDNCBI36
Celera8130,645,504 - 130,645,693RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,787,091 - 129,787,280UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
SHGC-85058  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,469,987 - 134,470,313UniSTSGRCh37
GRCh37468,580,063 - 68,580,393UniSTSGRCh37
Build 36468,262,658 - 68,262,988RGDNCBI36
Celera466,042,429 - 66,042,759RGD
Celera8130,647,336 - 130,647,662UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map4q13.2UniSTS
HuRef8129,788,923 - 129,789,249UniSTS
HuRef464,493,253 - 64,493,583UniSTS
TNG Radiation Hybrid Map437404.0UniSTS
SHGC-151193  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,571,232 - 134,571,554UniSTSGRCh37
Build 368134,640,414 - 134,640,736RGDNCBI36
Celera8130,748,578 - 130,748,904RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,890,216 - 129,890,542UniSTS
TNG Radiation Hybrid Map8276.0UniSTS
TNG Radiation Hybrid Map865336.0UniSTS
RH17620  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,471,510 - 134,471,653UniSTSGRCh37
Build 368134,540,692 - 134,540,835RGDNCBI36
Celera8130,648,859 - 130,649,002RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,790,445 - 129,790,588UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
WI-18021  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,521,162 - 134,521,311UniSTSGRCh37
Build 368134,590,344 - 134,590,493RGDNCBI36
Celera8130,698,526 - 130,698,675RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,840,109 - 129,840,258UniSTS
GeneMap99-GB4 RH Map8515.77UniSTS
Whitehead-RH Map8680.4UniSTS
NCBI RH Map81520.9UniSTS
D8S581E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,576,096 - 134,576,177UniSTSGRCh37
Build 368134,645,278 - 134,645,359RGDNCBI36
Celera8130,753,440 - 130,753,521RGD
HuRef8129,895,078 - 129,895,159UniSTS
RH78906  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,471,269 - 134,471,455UniSTSGRCh37
GRCh37468,581,351 - 68,581,538UniSTSGRCh37
Build 36468,263,946 - 68,264,133RGDNCBI36
Celera466,043,717 - 66,043,904RGD
Celera8130,648,618 - 130,648,804UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map4q13.2UniSTS
HuRef8129,790,204 - 129,790,390UniSTS
HuRef464,494,541 - 64,494,728UniSTS
GeneMap99-GB4 RH Map8515.77UniSTS
SHGC-32958  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,467,988 - 134,468,115UniSTSGRCh37
Build 368134,537,170 - 134,537,297RGDNCBI36
Celera8130,645,338 - 130,645,465RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,786,924 - 129,787,052UniSTS
Stanford-G3 RH Map84180.0UniSTS
GeneMap99-GB4 RH Map8515.57UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
GeneMap99-G3 RH Map84270.0UniSTS
WI-17797  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh378134,533,972 - 134,534,097UniSTSGRCh37
Build 368134,603,154 - 134,603,279RGDNCBI36
Celera8130,711,337 - 130,711,462RGD
Cytogenetic Map8q24.22UniSTS
HuRef8129,852,920 - 129,853,045UniSTS
GeneMap99-GB4 RH Map8515.47UniSTS
Whitehead-RH Map8680.7UniSTS
NCBI RH Map81520.9UniSTS
D15S1390  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map7p13UniSTS
SHGC-67307  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map4q13.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map5q22.1UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p36.21UniSTS
TNG Radiation Hybrid Map41213.0UniSTS


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
1204 2428 2788 2245 4943 1724 2345 5 623 1949 465 2268 7282 6457 52 3709 1 849 1735 1611 171

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_003033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_173344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005251025 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006716617 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011517225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017013736 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024447233 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422105 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047422106 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054361020 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB046716 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC103706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF059321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF186191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK093867 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK311319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL709325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL833743 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC048803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063665 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537506 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX648001 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471060 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN359425 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068270 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  FB715176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L13972 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L29555 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000399640   ⟹   ENSP00000414073
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,454,848 - 133,571,940 (-)Ensembl
Ensembl Acc Id: ENST00000517668   ⟹   ENSP00000427720
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,464,931 - 133,571,925 (-)Ensembl
Ensembl Acc Id: ENST00000518298
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,476,029 - 133,571,888 (-)Ensembl
Ensembl Acc Id: ENST00000519435
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,476,029 - 133,570,379 (-)Ensembl
Ensembl Acc Id: ENST00000519924   ⟹   ENSP00000430135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,475,877 - 133,489,700 (-)Ensembl
Ensembl Acc Id: ENST00000520020
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,476,143 - 133,499,421 (-)Ensembl
Ensembl Acc Id: ENST00000521180   ⟹   ENSP00000428540
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,454,853 - 133,571,925 (-)Ensembl
Ensembl Acc Id: ENST00000521627
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,488,082 - 133,489,633 (-)Ensembl
Ensembl Acc Id: ENST00000522204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,465,642 - 133,475,934 (-)Ensembl
Ensembl Acc Id: ENST00000522285
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,566,982 - 133,571,746 (-)Ensembl
Ensembl Acc Id: ENST00000522652   ⟹   ENSP00000430515
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,454,848 - 133,571,887 (-)Ensembl
Ensembl Acc Id: ENST00000522873
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,476,523 - 133,571,926 (-)Ensembl
Ensembl Acc Id: ENST00000523634   ⟹   ENSP00000429936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,475,809 - 133,489,640 (-)Ensembl
Ensembl Acc Id: ENST00000523854   ⟹   ENSP00000429638
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,464,778 - 133,499,383 (-)Ensembl
Ensembl Acc Id: ENST00000523855   ⟹   ENSP00000427786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,475,884 - 133,499,361 (-)Ensembl
Ensembl Acc Id: ENST00000648219   ⟹   ENSP00000497381
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl8133,458,873 - 133,571,887 (-)Ensembl
RefSeq Acc Id: NM_003033   ⟹   NP_003024
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,571,887 (-)NCBI
GRCh378134,467,091 - 134,584,697 (-)NCBI
Build 368134,540,312 - 134,653,344 (-)NCBI Archive
HuRef8129,786,027 - 129,903,172 (-)ENTREZGENE
CHM1_18134,508,613 - 134,625,711 (-)NCBI
T2T-CHM13v2.08134,578,690 - 134,695,776 (-)NCBI
Sequence:
RefSeq Acc Id: NM_173344   ⟹   NP_775479
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,571,887 (-)NCBI
GRCh378134,467,091 - 134,584,697 (-)NCBI
Build 368134,540,312 - 134,653,344 (-)NCBI Archive
HuRef8129,786,027 - 129,903,172 (-)ENTREZGENE
CHM1_18134,508,613 - 134,625,711 (-)NCBI
T2T-CHM13v2.08134,578,690 - 134,695,776 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005251025   ⟹   XP_005251082
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,489,720 (-)NCBI
GRCh378134,467,091 - 134,584,697 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006716617   ⟹   XP_006716680
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,571,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017013736   ⟹   XP_016869225
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,571,887 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047422105   ⟹   XP_047278061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,570,351 (-)NCBI
RefSeq Acc Id: XM_047422106   ⟹   XP_047278062
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,454,848 - 133,571,887 (-)NCBI
RefSeq Acc Id: XM_054361017   ⟹   XP_054216992
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08134,578,690 - 134,699,857 (-)NCBI
RefSeq Acc Id: XM_054361018   ⟹   XP_054216993
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08134,578,690 - 134,699,857 (-)NCBI
RefSeq Acc Id: XM_054361019   ⟹   XP_054216994
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08134,578,690 - 134,617,715 (-)NCBI
RefSeq Acc Id: XM_054361020   ⟹   XP_054216995
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.08134,578,690 - 134,694,296 (-)NCBI
RefSeq Acc Id: NP_775479   ⟸   NM_173344
- UniProtKB: O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot),   Q11201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_003024   ⟸   NM_003033
- UniProtKB: O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot),   Q11201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_005251082   ⟸   XM_005251025
- Peptide Label: isoform X1
- UniProtKB: O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot),   Q11201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_006716680   ⟸   XM_006716617
- Peptide Label: isoform X1
- UniProtKB: O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot),   Q11201 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_016869225   ⟸   XM_017013736
- Peptide Label: isoform X1
- UniProtKB: O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot),   Q11201 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000497381   ⟸   ENST00000648219
Ensembl Acc Id: ENSP00000427720   ⟸   ENST00000517668
Ensembl Acc Id: ENSP00000414073   ⟸   ENST00000399640
Ensembl Acc Id: ENSP00000430135   ⟸   ENST00000519924
Ensembl Acc Id: ENSP00000428540   ⟸   ENST00000521180
Ensembl Acc Id: ENSP00000430515   ⟸   ENST00000522652
Ensembl Acc Id: ENSP00000429638   ⟸   ENST00000523854
Ensembl Acc Id: ENSP00000427786   ⟸   ENST00000523855
Ensembl Acc Id: ENSP00000429936   ⟸   ENST00000523634
RefSeq Acc Id: XP_047278062   ⟸   XM_047422106
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_047278061   ⟸   XM_047422105
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216993   ⟸   XM_054361018
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216992   ⟸   XM_054361017
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216995   ⟸   XM_054361020
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054216994   ⟸   XM_054361019
- Peptide Label: isoform X1
- UniProtKB: Q11201 (UniProtKB/Swiss-Prot),   O60677 (UniProtKB/Swiss-Prot),   Q9UN51 (UniProtKB/Swiss-Prot)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q11201-F1-model_v2 AlphaFold Q11201 1-340 view protein structure

Promoters
RGD ID:7214221
Promoter ID:EPDNEW_H12857
Type:initiation region
Name:ST3GAL1_1
Description:ST3 beta-galactoside alpha-2,3-sialyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12858  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,571,887 - 133,571,947EPDNEW
RGD ID:7214223
Promoter ID:EPDNEW_H12858
Type:initiation region
Name:ST3GAL1_2
Description:ST3 beta-galactoside alpha-2,3-sialyltransferase 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H12857  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh388133,572,048 - 133,572,108EPDNEW
RGD ID:6813533
Promoter ID:HG_ACW:79032
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Lymphoblastoid,   NB4
Transcripts:ST3GAL1.DAPR07-UNSPLICED,   ST3GAL1.GAPR07,   ST3GAL1.KAPR07,   ST3GAL1.LAPR07,   ST3GAL1.RAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,580,634 - 134,581,134 (-)MPROMDB
RGD ID:6807067
Promoter ID:HG_KWN:62154
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:ENST00000319914,   ENST00000395320,   NM_003033,   NM_173344,   UC010MEG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 368134,652,251 - 134,654,617 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:10862 AgrOrtholog
COSMIC ST3GAL1 COSMIC
Ensembl Genes ENSG00000008513 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000517668.5 UniProtKB/TrEMBL
  ENST00000519924.5 UniProtKB/TrEMBL
  ENST00000521180 ENTREZGENE
  ENST00000521180.5 UniProtKB/Swiss-Prot
  ENST00000522652 ENTREZGENE
  ENST00000522652.6 UniProtKB/Swiss-Prot
  ENST00000523634.1 UniProtKB/TrEMBL
  ENST00000523854.5 UniProtKB/TrEMBL
  ENST00000523855.1 UniProtKB/TrEMBL
  ENST00000648219 ENTREZGENE
  ENST00000648219.1 UniProtKB/Swiss-Prot
Gene3D-CATH 3.90.1480.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000008513 GTEx
HGNC ID HGNC:10862 ENTREZGENE
Human Proteome Map ST3GAL1 Human Proteome Map
InterPro Beta-gal_alpha2-3_sialyltrans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Glyco_trans_29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GT29-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sialyl_trans UniProtKB/Swiss-Prot
KEGG Report hsa:6482 UniProtKB/Swiss-Prot
NCBI Gene 6482 ENTREZGENE
OMIM 607187 OMIM
PANTHER ALPHA-2,3-SIALYLTRANSFERASE ST3GAL I ISOFORM X1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CMP-N-ACETYLNEURAMINATE-BETA-GALACTOSAMIDE-ALPHA-2,3-SIALYLTRANSFERASE 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Glyco_transf_29 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35764 PharmGKB
PIRSF Sialyl_trans UniProtKB/Swiss-Prot
UniProt E5RG72_HUMAN UniProtKB/TrEMBL
  E5RGI3_HUMAN UniProtKB/TrEMBL
  E5RGL4_HUMAN UniProtKB/TrEMBL
  E5RH34_HUMAN UniProtKB/TrEMBL
  E5RHV6_HUMAN UniProtKB/TrEMBL
  O60677 ENTREZGENE
  Q11201 ENTREZGENE
  Q9UN51 ENTREZGENE
  SIA4A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O60677 UniProtKB/Swiss-Prot
  Q9UN51 UniProtKB/Swiss-Prot