STC1 (stanniocalcin 1) - Rat Genome Database

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Gene: STC1 (stanniocalcin 1) Homo sapiens
Analyze
Symbol: STC1
Name: stanniocalcin 1
RGD ID: 730961
HGNC Page HGNC
Description: Exhibits identical protein binding activity. Involved in several processes, including chondrocyte proliferation; endothelial cell morphogenesis; and regulation of ion transport. Localizes to cytoplasm and nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: stanniocalcin-1; STC; STC-1
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl823,841,929 - 23,854,806 (-)EnsemblGRCh38hg38GRCh38
GRCh38823,841,929 - 23,854,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,699,442 - 23,712,319 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,755,379 - 23,768,265 (-)NCBINCBI36hg18NCBI36
Build 34823,755,378 - 23,768,265NCBI
Celera822,662,875 - 22,675,765 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef822,244,578 - 22,257,479 (-)NCBIHuRef
CHM1_1823,901,587 - 23,914,473 (-)NCBICHM1_1
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
(+)-schisandrin B  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
7,9-dihydro-1H-purine-2,6,8(3H)-trione  (EXP)
8-Br-cAMP  (EXP)
acetamide  (ISO)
acrylamide  (ISO)
ammonium chloride  (ISO)
ammonium hexachloroplatinate  (EXP)
arsane  (EXP)
arsenic atom  (EXP)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bromobenzene  (ISO)
carbamazepine  (EXP)
carbon nanotube  (EXP)
carmustine  (EXP)
chloropicrin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (ISO)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP)
daidzein  (EXP)
DDT  (ISO)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
divanadium pentaoxide  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (EXP)
ethyl methanesulfonate  (EXP)
etoposide  (EXP)
fipronil  (EXP)
fluoranthene  (ISO)
fluoxetine  (ISO)
folic acid  (EXP)
formaldehyde  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
glycerol 2-phosphate  (ISO)
glycidol  (ISO)
glycitein  (EXP)
glyphosate  (EXP)
hexamethylene diisocyanate  (EXP)
indometacin  (EXP)
isoprenaline  (ISO)
methyl methanesulfonate  (EXP)
methylisothiazolinone  (EXP)
methylmercury chloride  (EXP)
mono(2-ethylhexyl) phthalate  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
nickel atom  (EXP)
nickel dichloride  (EXP)
nickel sulfate  (EXP)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
oxaliplatin  (EXP,ISO)
paclitaxel  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
PD 0325901  (EXP)
pepstatin A  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
phenylephrine  (ISO)
phosphonoformic acid  (ISO)
pirinixic acid  (ISO)
progesterone  (EXP,ISO)
quercetin  (EXP)
reactive oxygen species  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenate  (EXP)
sorafenib  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (ISO)
thimerosal  (EXP)
topotecan  (EXP,ISO)
trichostatin A  (EXP)
trimellitic anhydride  (EXP,ISO)
triphenyl phosphate  (ISO)
triptonide  (ISO)
troglitazone  (EXP)
tunicamycin  (EXP)
valproic acid  (EXP)
vinclozolin  (ISO)
vitamin E  (EXP)
vorinostat  (EXP)
zoledronic acid  (EXP)

References

Additional References at PubMed
PMID:1458489   PMID:7489828   PMID:7892193   PMID:8700837   PMID:9480753   PMID:9708804   PMID:9794484   PMID:10725397   PMID:10947959   PMID:11861508   PMID:12223480   PMID:12406069  
PMID:12477932   PMID:12663264   PMID:14500721   PMID:14503913   PMID:15062564   PMID:15131261   PMID:15149855   PMID:15340161   PMID:15383693   PMID:15489334   PMID:16109785   PMID:16377640  
PMID:17032941   PMID:17272771   PMID:17395153   PMID:17457011   PMID:18164591   PMID:18309109   PMID:18355956   PMID:18590575   PMID:18652825   PMID:18786506   PMID:19267325   PMID:19444628  
PMID:19628018   PMID:19712479   PMID:19913121   PMID:20174869   PMID:20383146   PMID:20422040   PMID:20484106   PMID:20628086   PMID:20827662   PMID:21273618   PMID:21465530   PMID:21474827  
PMID:21656524   PMID:21672207   PMID:21720730   PMID:21873635   PMID:22200953   PMID:22537917   PMID:22588538   PMID:22589738   PMID:22693564   PMID:22889960   PMID:23243022   PMID:23263486  
PMID:23382863   PMID:23566487   PMID:23664860   PMID:23667669   PMID:23757035   PMID:24729417   PMID:24743310   PMID:25056605   PMID:25370841   PMID:25373521   PMID:25391215   PMID:25591908  
PMID:25647164   PMID:25740019   PMID:25783529   PMID:26187698   PMID:26195635   PMID:26469082   PMID:26531219   PMID:26547904   PMID:26577859   PMID:26640170   PMID:26874357   PMID:27322879  
PMID:27346255   PMID:27459971   PMID:27461417   PMID:27603899   PMID:27730346   PMID:28005267   PMID:28350121   PMID:28435144   PMID:28538979   PMID:28545028   PMID:28688970   PMID:29196129  
PMID:29721098   PMID:29857240   PMID:29940774   PMID:30582210   PMID:30683904   PMID:30747219   PMID:31100207   PMID:31348577   PMID:31432189   PMID:31676369   PMID:31816356   PMID:32037949  
PMID:32140959   PMID:32162740   PMID:32273636   PMID:32296183   PMID:32364536   PMID:32579928   PMID:33156861  


Genomics

Comparative Map Data
STC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl823,841,929 - 23,854,806 (-)EnsemblGRCh38hg38GRCh38
GRCh38823,841,929 - 23,854,806 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh37823,699,442 - 23,712,319 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36823,755,379 - 23,768,265 (-)NCBINCBI36hg18NCBI36
Build 34823,755,378 - 23,768,265NCBI
Celera822,662,875 - 22,675,765 (-)NCBI
Cytogenetic Map8p21.2NCBI
HuRef822,244,578 - 22,257,479 (-)NCBIHuRef
CHM1_1823,901,587 - 23,914,473 (-)NCBICHM1_1
Stc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391469,266,738 - 69,278,850 (+)NCBIGRCm39mm39
GRCm39 Ensembl1469,266,687 - 69,279,253 (+)Ensembl
GRCm381469,029,289 - 69,041,401 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1469,029,238 - 69,041,804 (+)EnsemblGRCm38mm10GRCm38
MGSCv371469,647,346 - 69,659,458 (+)NCBIGRCm37mm9NCBIm37
MGSCv361467,982,568 - 67,994,944 (+)NCBImm8
Celera1466,805,718 - 66,817,778 (+)NCBICelera
Cytogenetic Map14D2NCBI
Stc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21544,299,591 - 44,311,695 (+)NCBI
Rnor_6.0 Ensembl1550,891,127 - 50,903,162 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_6.01550,891,137 - 50,901,791 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.01554,622,230 - 54,632,884 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41549,566,885 - 49,577,539 (+)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.11549,582,664 - 49,593,308 (+)NCBI
Celera1543,995,170 - 44,005,824 (+)NCBICelera
Cytogenetic Map15p11NCBI
Stc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540346,969,677 - 46,982,191 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495540346,969,837 - 46,982,075 (-)NCBIChiLan1.0ChiLan1.0
STC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.1820,023,469 - 20,036,321 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl820,023,469 - 20,036,321 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v0823,089,339 - 23,102,245 (-)NCBIMhudiblu_PPA_v0panPan3
STC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12533,615,436 - 33,628,138 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2533,615,451 - 33,625,218 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2534,203,874 - 34,216,361 (+)NCBI
ROS_Cfam_1.02533,824,454 - 33,836,948 (+)NCBI
UMICH_Zoey_3.12533,768,855 - 33,781,335 (+)NCBI
UNSW_CanFamBas_1.02533,623,824 - 33,636,315 (+)NCBI
UU_Cfam_GSD_1.02533,778,666 - 33,791,304 (+)NCBI
Stc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494311,319,017 - 11,331,358 (+)NCBI
SpeTri2.0NW_0049365557,240,649 - 7,251,668 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
STC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl147,950,389 - 7,961,566 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1147,952,175 - 7,961,365 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2148,806,997 - 8,816,468 (-)NCBISscrofa10.2Sscrofa10.2susScr3
STC1
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1821,975,286 - 21,988,182 (-)NCBI
ChlSab1.1 Ensembl821,975,283 - 21,988,198 (-)Ensembl
Vero_WHO_p1.0NW_02366605220,209,581 - 20,222,466 (+)NCBI
Stc1
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_00462475819,035,478 - 19,047,633 (-)NCBI

Position Markers
PMC179881P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,699,768 - 23,700,261UniSTSGRCh37
Build 36823,755,713 - 23,756,206RGDNCBI36
Celera822,663,209 - 22,663,702RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef822,244,912 - 22,245,403UniSTS
RH71409  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,701,043 - 23,701,159UniSTSGRCh37
Build 36823,756,988 - 23,757,104RGDNCBI36
Celera822,664,484 - 22,664,600RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef822,246,185 - 22,246,301UniSTS
GeneMap99-GB4 RH Map8102.79UniSTS
NCBI RH Map8286.2UniSTS
STC1_8652  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,699,407 - 23,700,047UniSTSGRCh37
Build 36823,755,352 - 23,755,992RGDNCBI36
Celera822,662,848 - 22,663,488RGD
HuRef822,244,551 - 22,245,189UniSTS
SGC35548  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,702,079 - 23,702,281UniSTSGRCh37
Build 36823,758,024 - 23,758,226RGDNCBI36
Celera822,665,520 - 22,665,722RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef822,247,221 - 22,247,423UniSTS
TNG Radiation Hybrid Map812670.0UniSTS
GeneMap99-GB4 RH Map8102.79UniSTS
Whitehead-RH Map8102.1UniSTS
NCBI RH Map8286.2UniSTS
RH18022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,699,575 - 23,699,786UniSTSGRCh37
Build 36823,755,520 - 23,755,731RGDNCBI36
Celera822,663,016 - 22,663,227RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef822,244,719 - 22,244,930UniSTS
GeneMap99-GB4 RH Map897.73UniSTS
NCBI RH Map8303.4UniSTS
RH70507  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37823,711,325 - 23,711,448UniSTSGRCh37
Build 36823,767,270 - 23,767,393RGDNCBI36
Celera822,674,770 - 22,674,893RGD
Cytogenetic Map8p21-p11.2UniSTS
HuRef822,256,484 - 22,256,607UniSTS
GeneMap99-GB4 RH Map8100.31UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2039
Count of miRNA genes:869
Interacting mature miRNAs:1058
Transcripts:ENST00000290271, ENST00000524323
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 1 5 1 2 6
Medium 675 1045 1003 164 43 77 1461 477 821 268 442 1050 91 876 756 2
Low 1637 1156 501 317 372 244 2586 1502 1545 139 751 506 81 1 328 1773 2 2
Below cutoff 82 729 208 139 1133 140 299 210 1359 6 257 33 2 259

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029711 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003155 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC012119 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF098463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF242179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309366 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312589 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC029044 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471080 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP455655 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP455656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP455657 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP455658 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KP455659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S50179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S50184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U25997 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U46768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U85252 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000290271   ⟹   ENSP00000290271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,841,929 - 23,854,806 (-)Ensembl
RefSeq Acc Id: ENST00000524323   ⟹   ENSP00000427932
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl823,843,914 - 23,854,311 (-)Ensembl
RefSeq Acc Id: NM_003155   ⟹   NP_003146
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,841,929 - 23,854,806 (-)NCBI
GRCh37823,699,434 - 23,712,320 (-)ENTREZGENE
Build 36823,755,379 - 23,768,265 (-)NCBI Archive
HuRef822,244,578 - 22,257,479 (-)ENTREZGENE
CHM1_1823,901,587 - 23,914,473 (-)NCBI
Sequence:
Reference Sequences
RefSeq Acc Id: NP_003146   ⟸   NM_003155
- Peptide Label: precursor
- UniProtKB: P52823 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000427932   ⟸   ENST00000524323
RefSeq Acc Id: ENSP00000290271   ⟸   ENST00000290271

Promoters
RGD ID:7212891
Promoter ID:EPDNEW_H12191
Type:initiation region
Name:STC1_1
Description:stanniocalcin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38823,854,806 - 23,854,866EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000050294] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000050297] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.3-21.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000050912] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12383584-36370018)x3 copy number gain See cases [RCV000051145] Chr8:12383584..36370018 [GRCh38]
Chr8:12241093..36227536 [GRCh37]
Chr8:12285464..36347088 [NCBI36]
Chr8:8p23.1-12
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 8p23.1-11.21(chr8:12728904-41928741)x3 copy number gain See cases [RCV000051110] Chr8:12728904..41928741 [GRCh38]
Chr8:12586413..41786259 [GRCh37]
Chr8:12630784..41905416 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:12609975-37892000)x3 copy number gain See cases [RCV000053629] Chr8:12609975..37892000 [GRCh38]
Chr8:12467484..37749518 [GRCh37]
Chr8:12511855..37868676 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43336172)x3 copy number gain See cases [RCV000053630] Chr8:12609975..43336172 [GRCh38]
Chr8:12467484..43191315 [GRCh37]
Chr8:12511855..43310472 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43255410)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053631]|See cases [RCV000053631] Chr8:12609975..43255410 [GRCh38]
Chr8:12467484..43110553 [GRCh37]
Chr8:12511855..43229710 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12750796-43532444)x3 copy number gain See cases [RCV000053632] Chr8:12750796..43532444 [GRCh38]
Chr8:12608305..43387587 [GRCh37]
Chr8:12652676..43506744 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12750796-29445409)x3 copy number gain See cases [RCV000053633] Chr8:12750796..29445409 [GRCh38]
Chr8:12608305..29302926 [GRCh37]
Chr8:12652676..29358845 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p22-q11.21(chr8:14940110-47929925)x3 copy number gain See cases [RCV000053635] Chr8:14940110..47929925 [GRCh38]
Chr8:14797619..48842485 [GRCh37]
Chr8:14841990..49005038 [NCBI36]
Chr8:8p22-q11.21
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 8p23.3-12(chr8:96310-30614703)x3 copy number gain See cases [RCV000053599] Chr8:96310..30614703 [GRCh38]
Chr8:46310..30472220 [GRCh37]
Chr8:36310..30591762 [NCBI36]
Chr8:8p23.3-12
pathogenic
NM_003155.2(STC1):c.431C>T (p.Ala144Val) single nucleotide variant Malignant melanoma [RCV000068246] Chr8:23851362 [GRCh38]
Chr8:23708875 [GRCh37]
Chr8:23764820 [NCBI36]
Chr8:8p21.2
not provided
NM_003155.2(STC1):c.324C>T (p.Phe108=) single nucleotide variant Malignant melanoma [RCV000068247] Chr8:23851469 [GRCh38]
Chr8:23708982 [GRCh37]
Chr8:23764927 [NCBI36]
Chr8:8p21.2
not provided
NM_003155.2(STC1):c.688C>G (p.Arg230Gly) single nucleotide variant Malignant melanoma [RCV000061779] Chr8:23844826 [GRCh38]
Chr8:23702339 [GRCh37]
Chr8:23758284 [NCBI36]
Chr8:8p21.2
not provided
NM_003155.2(STC1):c.189C>T (p.Ser63=) single nucleotide variant Malignant melanoma [RCV000061780] Chr8:23852314 [GRCh38]
Chr8:23709827 [GRCh37]
Chr8:23765772 [NCBI36]
Chr8:8p21.2
not provided
NM_003155.2(STC1):c.130C>T (p.Arg44Cys) single nucleotide variant Malignant melanoma [RCV000061781] Chr8:23852373 [GRCh38]
Chr8:23709886 [GRCh37]
Chr8:23765831 [NCBI36]
Chr8:8p21.2
not provided
GRCh38/hg38 8p23.1-11.1(chr8:12609975-43673207)x3 copy number gain See cases [RCV000135786] Chr8:12609975..43673207 [GRCh38]
Chr8:12467484..43528350 [GRCh37]
Chr8:12511855..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12383584-43673207)x3 copy number gain See cases [RCV000135566] Chr8:12383584..43673207 [GRCh38]
Chr8:12241093..43528350 [GRCh37]
Chr8:12285464..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12728904-40169194)x3 copy number gain See cases [RCV000136516] Chr8:12728904..40169194 [GRCh38]
Chr8:12586413..40026713 [GRCh37]
Chr8:12630784..40145870 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.3-21.2(chr8:241605-24656971)x3 copy number gain See cases [RCV000136026] Chr8:241605..24656971 [GRCh38]
Chr8:191605..24514484 [GRCh37]
Chr8:181605..24570374 [NCBI36]
Chr8:8p23.3-21.2
pathogenic
GRCh38/hg38 8p21.2(chr8:23757449-24517207)x3 copy number gain See cases [RCV000136617] Chr8:23757449..24517207 [GRCh38]
Chr8:23614962..24374720 [GRCh37]
Chr8:23670907..24430610 [NCBI36]
Chr8:8p21.2
uncertain significance
GRCh38/hg38 8p23.1-12(chr8:12725750-30180521)x3 copy number gain See cases [RCV000136825] Chr8:12725750..30180521 [GRCh38]
Chr8:12583259..30038037 [GRCh37]
Chr8:12627630..30157579 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12182421-43673207)x3 copy number gain See cases [RCV000137249] Chr8:12182421..43673207 [GRCh38]
Chr8:12039930..43528350 [GRCh37]
Chr8:12077339..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-12(chr8:12698495-35476082)x3 copy number gain See cases [RCV000138058] Chr8:12698495..35476082 [GRCh38]
Chr8:12556004..35333600 [GRCh37]
Chr8:12600375..35453142 [NCBI36]
Chr8:8p23.1-12
pathogenic
GRCh38/hg38 8p21.3-21.2(chr8:22946697-25125997)x3 copy number gain See cases [RCV000137878] Chr8:22946697..25125997 [GRCh38]
Chr8:22804210..24983512 [GRCh37]
Chr8:22860155..25039429 [NCBI36]
Chr8:8p21.3-21.2
uncertain significance
GRCh38/hg38 8p23.3-11.23(chr8:226452-38021728)x3 copy number gain See cases [RCV000137807] Chr8:226452..38021728 [GRCh38]
Chr8:176452..37879246 [GRCh37]
Chr8:166452..37998403 [NCBI36]
Chr8:8p23.3-11.23
pathogenic|likely pathogenic
GRCh38/hg38 8p23.3-12(chr8:241605-31091074)x3 copy number gain See cases [RCV000138831] Chr8:241605..31091074 [GRCh38]
Chr8:191605..30948590 [GRCh37]
Chr8:181605..31068132 [NCBI36]
Chr8:8p23.3-12
pathogenic
GRCh38/hg38 8p23.1-21.1(chr8:12382844-28625564)x3 copy number gain See cases [RCV000138244] Chr8:12382844..28625564 [GRCh38]
Chr8:12240353..28483081 [GRCh37]
Chr8:12284724..28539000 [NCBI36]
Chr8:8p23.1-21.1
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 8p23.1-11.22(chr8:7141697-38695546)x3 copy number gain See cases [RCV000139891] Chr8:7141697..38695546 [GRCh38]
Chr8:6999219..38553064 [GRCh37]
Chr8:6986629..38672221 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.22(chr8:12729023-39235934)x3 copy number gain See cases [RCV000139770] Chr8:12729023..39235934 [GRCh38]
Chr8:12586532..39093453 [GRCh37]
Chr8:12630903..39212610 [NCBI36]
Chr8:8p23.1-11.22
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12646123-43686843)x3 copy number gain See cases [RCV000139796] Chr8:12646123..43686843 [GRCh38]
Chr8:12503632..43541986 [GRCh37]
Chr8:12548003..43661143 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.1-11.23(chr8:11851113-37216333)x3 copy number gain See cases [RCV000139549] Chr8:11851113..37216333 [GRCh38]
Chr8:11708622..37073851 [GRCh37]
Chr8:11746031..37193009 [NCBI36]
Chr8:8p23.1-11.23
pathogenic
GRCh38/hg38 8p23.3-12(chr8:226452-34491890)x3 copy number gain See cases [RCV000141410] Chr8:226452..34491890 [GRCh38]
Chr8:176452..34349408 [GRCh37]
Chr8:166452..34468950 [NCBI36]
Chr8:8p23.3-12
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 8p23.1-12(chr8:12383584-29033946)x1 copy number loss See cases [RCV000142516] Chr8:12383584..29033946 [GRCh38]
Chr8:12241093..28891463 [GRCh37]
Chr8:12285464..28947382 [NCBI36]
Chr8:8p23.1-12
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 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 8p22-12(chr8:18972996-33619264)x1 copy number loss See cases [RCV000142747] Chr8:18972996..33619264 [GRCh38]
Chr8:18830506..33476782 [GRCh37]
Chr8:18874786..33596324 [NCBI36]
Chr8:8p22-12
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 8p23.1-11.21(chr8:12633490-40685533)x3 copy number gain See cases [RCV000143508] Chr8:12633490..40685533 [GRCh38]
Chr8:12490999..40543052 [GRCh37]
Chr8:12535370..40662209 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.21(chr8:12609975-42085703)x3 copy number gain See cases [RCV000148249] Chr8:12609975..42085703 [GRCh38]
Chr8:12467484..41943221 [GRCh37]
Chr8:12511855..42062378 [NCBI36]
Chr8:8p23.1-11.21
pathogenic
GRCh38/hg38 8p23.1-11.1(chr8:12728904-43673207)x3 copy number gain See cases [RCV000148237] Chr8:12728904..43673207 [GRCh38]
Chr8:12586413..43528350 [GRCh37]
Chr8:12630784..43647507 [NCBI36]
Chr8:8p23.1-11.1
pathogenic
GRCh38/hg38 8p23.2-21.1(chr8:2475295-27504279)x1 copy number loss See cases [RCV000148252] Chr8:2475295..27504279 [GRCh38]
Chr8:2292235..27361796 [GRCh37]
Chr8:2121457..27417713 [NCBI36]
Chr8:8p23.2-21.1
pathogenic
GRCh37/hg19 8p21.3-12(chr8:20478546-28986438)x3 copy number gain See cases [RCV000203434] Chr8:20478546..28986438 [GRCh37]
Chr8:8p21.3-12
pathogenic
GRCh37/hg19 8p23.1-11.22(chr8:12528482-39593802)x3 copy number gain See cases [RCV000511325] Chr8:12528482..39593802 [GRCh37]
Chr8:8p23.1-11.22
pathogenic
GRCh37/hg19 8p23.1-21.2(chr8:12580132-26774307)x3 copy number gain See cases [RCV000239945] Chr8:12580132..26774307 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-12(chr8:158048-30262760)x3 copy number gain See cases [RCV000449225] Chr8:158048..30262760 [GRCh37]
Chr8:8p23.3-12
pathogenic
GRCh37/hg19 8p22-21.2(chr8:13091530-24483615) copy number loss See cases [RCV000447428] Chr8:13091530..24483615 [GRCh37]
Chr8:8p22-21.2
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 8p23.3-11.1(chr8:158048-43786723)x3 copy number gain See cases [RCV000447909] Chr8:158048..43786723 [GRCh37]
Chr8:8p23.3-11.1
pathogenic
GRCh37/hg19 8p23.1-11.1(chr8:12580132-43388233)x3 copy number gain See cases [RCV000447913] Chr8:12580132..43388233 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p22-12(chr8:16992973-32612724)x1 copy number loss not provided [RCV000509389] Chr8:16992973..32612724 [GRCh37]
Chr8:8p22-12
not provided
GRCh37/hg19 8p23.1-12(chr8:12528482-33684786)x3 copy number gain See cases [RCV000510571] Chr8:12528482..33684786 [GRCh37]
Chr8:8p23.1-12
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 8p23.1-11.1(chr8:11935023-43824035)x3 copy number gain See cases [RCV000511028] Chr8:11935023..43824035 [GRCh37]
Chr8:8p23.1-11.1
pathogenic
GRCh37/hg19 8p23.1-12(chr8:11945855-34875355)x3 copy number gain See cases [RCV000510899] Chr8:11945855..34875355 [GRCh37]
Chr8:8p23.1-12
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 8p23.1-21.2(chr8:12580104-25947329) copy number gain Autistic disorder of childhood onset [RCV000626542] Chr8:12580104..25947329 [GRCh37]
Chr8:8p23.1-21.2
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 8p23.1-21.2(chr8:8770948-27079636)x3 copy number gain not provided [RCV000683041] Chr8:8770948..27079636 [GRCh37]
Chr8:8p23.1-21.2
pathogenic
GRCh37/hg19 8p23.3-21.2(chr8:1825200-24533193)x3 copy number gain not provided [RCV000683042] Chr8:1825200..24533193 [GRCh37]
Chr8:8p23.3-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12552775-35935825)x3 copy number gain not provided [RCV000683043] Chr8:12552775..35935825 [GRCh37]
Chr8:8p23.1-12
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 8p23.1-12(chr8:12556004-34374150)x3 copy number gain not provided [RCV000762735] Chr8:12556004..34374150 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
Single allele duplication not provided [RCV000768452] Chr8:12546855..35816855 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
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 8p21.3-21.2(chr8:21662847-24199218)x1 copy number loss not provided [RCV000849161] Chr8:21662847..24199218 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p21.2(chr8:23501519-24907990)x1 copy number loss not provided [RCV000847303] Chr8:23501519..24907990 [GRCh37]
Chr8:8p21.2
pathogenic
GRCh37/hg19 8p21.3-21.2(chr8:22442548-27369334)x1 copy number loss not provided [RCV000847074] Chr8:22442548..27369334 [GRCh37]
Chr8:8p21.3-21.2
pathogenic
GRCh37/hg19 8p23.1-12(chr8:12528482-29886483)x3 copy number gain not provided [RCV001260030] Chr8:12528482..29886483 [GRCh37]
Chr8:8p23.1-12
likely pathogenic
GRCh37/hg19 8p23.3-11.1(chr8:176814-43396776) copy number gain Abnormality of the fetal cardiovascular system [RCV001291977] Chr8:176814..43396776 [GRCh37]
Chr8:8p23.3-11.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:11373 AgrOrtholog
COSMIC STC1 COSMIC
Ensembl Genes ENSG00000159167 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Protein ENSP00000290271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000427932 UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000290271 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524323 UniProtKB/Swiss-Prot
GTEx ENSG00000159167 GTEx
HGNC ID HGNC:11373 ENTREZGENE
Human Proteome Map STC1 Human Proteome Map
InterPro Stanniocalcin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:6781 UniProtKB/Swiss-Prot
NCBI Gene 6781 ENTREZGENE
OMIM 601185 OMIM
PANTHER PTHR11245 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Stanniocalcin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36190 PharmGKB
UniProt A0A0H3W617_HUMAN UniProtKB/TrEMBL
  A0A0H3W641_HUMAN UniProtKB/TrEMBL
  P52823 ENTREZGENE, UniProtKB/Swiss-Prot
UniProt Secondary B4DN22 UniProtKB/Swiss-Prot
  Q71UE5 UniProtKB/Swiss-Prot