SOSTDC1 (sclerostin domain containing 1) - Rat Genome Database

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Gene: SOSTDC1 (sclerostin domain containing 1) Homo sapiens
Analyze
Symbol: SOSTDC1
Name: sclerostin domain containing 1
RGD ID: 1343094
HGNC Page HGNC:21748
Description: Enables BMP binding activity and BMP receptor activity. Involved in negative regulation of determination of dorsal identity; negative regulation of myoblast differentiation; and negative regulation of signal transduction. Located in extracellular space.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CDA019; cystine-knot containing secreted protein; DAND7; DKFZp564D206; ectodermal BMP inhibitor; ECTODIN; sclerostin domain-containing protein 1; USAG1; uterine sensitization-associated protein-1; wise
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
GRCh38716,461,481 - 16,465,738 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl716,461,481 - 16,530,580 (-)EnsemblGRCh38hg38GRCh38
GRCh37716,501,106 - 16,505,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,467,631 - 16,471,999 (-)NCBINCBI36Build 36hg18NCBI36
Build 34716,274,347 - 16,278,714NCBI
Celera716,480,854 - 16,485,222 (-)NCBICelera
Cytogenetic Map7p21.2NCBI
HuRef716,387,637 - 16,392,005 (-)NCBIHuRef
CHM1_1716,500,852 - 16,505,220 (-)NCBICHM1_1
T2T-CHM13v2.0716,591,217 - 16,595,471 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2716,554,239 - 16,558,607 (-)NCBI
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-dichloroethane  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (EXP)
3,7-dihydropurine-6-thione  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-tert-Octylphenol  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
Benzo[ghi]perylene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
capsaicin  (ISO)
carbon monoxide  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
ciguatoxin CTX1B  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
decabromodiphenyl ether  (EXP)
diarsenic trioxide  (EXP)
diazinon  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
diiodine  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
flusilazole  (ISO)
fulvestrant  (EXP)
furan  (ISO)
genistein  (EXP,ISO)
glycidol  (ISO)
glycine betaine  (ISO)
lead diacetate  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
mercaptopurine  (ISO)
N-methyl-4-phenylpyridinium  (ISO)
nickel atom  (EXP)
nitrofen  (ISO)
p-tert-Amylphenol  (ISO)
PCB138  (ISO)
pirinixic acid  (EXP,ISO)
purine-6-thiol  (ISO)
SB 431542  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP)
sodium chloride  (ISO)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulfur dioxide  (ISO)
tamoxifen  (EXP)
titanium dioxide  (ISO)
toluene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Secreted and transmembrane wnt inhibitors and activators. Cruciat CM and Niehrs C, Cold Spring Harb Perspect Biol. 2013 Mar 1;5(3):a015081. doi: 10.1101/cshperspect.a015081.
2. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
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
Additional References at PubMed
PMID:12477932   PMID:12690205   PMID:12853948   PMID:14623234   PMID:14702039   PMID:15020244   PMID:15280373   PMID:15489334   PMID:15951218   PMID:17207965   PMID:18032587   PMID:19760604  
PMID:20339536   PMID:21080955   PMID:21113658   PMID:21221677   PMID:21873635   PMID:23830730   PMID:24190897   PMID:25338303   PMID:25858146   PMID:26378658   PMID:28551845   PMID:30148467  
PMID:30320379   PMID:30367460   PMID:31133012   PMID:31391487   PMID:31529323   PMID:32779697   PMID:32801337   PMID:34911834   PMID:35138469   PMID:35442555  


Genomics

Comparative Map Data
SOSTDC1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38716,461,481 - 16,465,738 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl716,461,481 - 16,530,580 (-)EnsemblGRCh38hg38GRCh38
GRCh37716,501,106 - 16,505,363 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36716,467,631 - 16,471,999 (-)NCBINCBI36Build 36hg18NCBI36
Build 34716,274,347 - 16,278,714NCBI
Celera716,480,854 - 16,485,222 (-)NCBICelera
Cytogenetic Map7p21.2NCBI
HuRef716,387,637 - 16,392,005 (-)NCBIHuRef
CHM1_1716,500,852 - 16,505,220 (-)NCBICHM1_1
T2T-CHM13v2.0716,591,217 - 16,595,471 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2716,554,239 - 16,558,607 (-)NCBI
Sostdc1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391236,364,168 - 36,368,451 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1236,364,138 - 36,368,451 (+)EnsemblGRCm39 Ensembl
GRCm381236,314,169 - 36,318,452 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1236,314,139 - 36,318,452 (+)EnsemblGRCm38mm10GRCm38
MGSCv371237,040,756 - 37,045,039 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361236,824,492 - 36,828,711 (+)NCBIMGSCv36mm8
Celera1237,763,054 - 37,767,254 (+)NCBICelera
Cytogenetic Map12A3NCBI
cM Map1216.82NCBI
Sostdc1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8658,778,623 - 58,782,797 (+)NCBIGRCr8
mRatBN7.2653,051,336 - 53,055,510 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl653,051,354 - 53,055,579 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx653,344,009 - 53,348,187 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0653,658,884 - 53,663,061 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0653,129,317 - 53,133,490 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0655,812,820 - 55,816,994 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl655,812,747 - 55,817,066 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0665,423,740 - 65,427,914 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4655,066,277 - 55,070,451 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1655,069,402 - 55,073,577 (+)NCBI
Celera652,193,795 - 52,197,969 (+)NCBICelera
Cytogenetic Map6q16NCBI
Sostdc1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541019,657,029 - 19,662,131 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541019,657,805 - 19,662,121 (-)NCBIChiLan1.0ChiLan1.0
SOSTDC1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2621,295,189 - 21,408,065 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1769,619,912 - 69,732,876 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0717,193,531 - 17,229,769 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1716,443,703 - 16,448,076 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl716,443,703 - 16,448,076 (-)Ensemblpanpan1.1panPan2
PanPan1.1 Ensembl716,443,703 - 16,448,076 (-)NCBIpanpan1.1panPan2
SOSTDC1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11431,035,759 - 31,079,139 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1431,022,766 - 31,026,737 (-)EnsemblCanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1431,022,766 - 31,026,737 (-)NCBICanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1430,543,856 - 30,600,514 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01430,942,576 - 30,998,969 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1430,942,759 - 30,947,128 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11431,045,159 - 31,101,747 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01430,757,610 - 30,813,982 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01431,070,106 - 31,126,811 (-)NCBIUU_Cfam_GSD_1.0
Sostdc1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511875,301,027 - 75,305,460 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365462,975,606 - 2,980,514 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365462,976,045 - 2,980,487 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SOSTDC1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl985,743,341 - 85,747,591 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1985,743,332 - 85,747,893 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2994,581,754 - 94,585,919 (-)NCBISscrofa10.2Sscrofa10.2susScr3
SOSTDC1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12141,645,884 - 41,651,360 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2141,647,079 - 41,652,093 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604262,859,358 - 62,864,068 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Sostdc1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462473913,766,815 - 13,772,322 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462473913,767,523 - 13,771,708 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SOSTDC1
8 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p21.3-15.3(chr7:8274775-21988311)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052280]|See cases [RCV000052280] Chr7:8274775..21988311 [GRCh38]
Chr7:8314405..22027929 [GRCh37]
Chr7:8280930..21994454 [NCBI36]
Chr7:7p21.3-15.3
pathogenic
GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1 copy number loss See cases [RCV000052281] Chr7:9975653..19356878 [GRCh38]
Chr7:10015280..19396501 [GRCh37]
Chr7:9981805..19363026 [NCBI36]
Chr7:7p21.3-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:14959516-19467349)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052288]|See cases [RCV000052288] Chr7:14959516..19467349 [GRCh38]
Chr7:14999141..19506972 [GRCh37]
Chr7:14965666..19473497 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1 copy number loss See cases [RCV000052289] Chr7:15133711..19642829 [GRCh38]
Chr7:15173336..19682452 [GRCh37]
Chr7:15139861..19648977 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:53985-24361531)x3 copy number gain See cases [RCV000053528] Chr7:53985..24361531 [GRCh38]
Chr7:53985..24401150 [GRCh37]
Chr7:149068..24367675 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3 copy number gain See cases [RCV000053531] Chr7:16234212..26167278 [GRCh38]
Chr7:16273837..26206898 [GRCh37]
Chr7:16240362..26173423 [NCBI36]
Chr7:7p21.2-15.2
pathogenic
NM_015464.2(SOSTDC1):c.260G>A (p.Gly87Asp) single nucleotide variant Malignant melanoma [RCV000067803] Chr7:16462909 [GRCh38]
Chr7:16502534 [GRCh37]
Chr7:16469059 [NCBI36]
Chr7:7p21.2
not provided
GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1 copy number loss See cases [RCV000133737] Chr7:14904894..16925094 [GRCh38]
Chr7:14944519..16964718 [GRCh37]
Chr7:14911044..16931243 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 copy number gain See cases [RCV000136557] Chr7:54185..26827634 [GRCh38]
Chr7:54185..26867253 [GRCh37]
Chr7:149268..26833778 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1 copy number loss See cases [RCV000136932] Chr7:13966197..18321354 [GRCh38]
Chr7:14005822..18360977 [GRCh37]
Chr7:13972347..18327502 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3 copy number gain See cases [RCV000136649] Chr7:5682209..27230311 [GRCh38]
Chr7:5721840..27269930 [GRCh37]
Chr7:5688366..27236455 [NCBI36]
Chr7:7p22.1-15.2
pathogenic
GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1 copy number loss See cases [RCV000137236] Chr7:16121516..20607899 [GRCh38]
Chr7:16161141..20647522 [GRCh37]
Chr7:16127666..20614047 [NCBI36]
Chr7:7p21.2-21.1
pathogenic
GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3 copy number gain See cases [RCV000137824] Chr7:45130..25221165 [GRCh38]
Chr7:45130..25260784 [GRCh37]
Chr7:140213..25227309 [NCBI36]
Chr7:7p22.3-15.3
pathogenic
GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1 copy number loss See cases [RCV000137924] Chr7:15533812..24851432 [GRCh38]
Chr7:15573437..24891051 [GRCh37]
Chr7:15539962..24857576 [NCBI36]
Chr7:7p21.2-15.3
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3 copy number gain See cases [RCV000143060] Chr7:1698124..27207295 [GRCh38]
Chr7:1737760..27246914 [GRCh37]
Chr7:1704286..27213439 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
GRCh38/hg38 7p21.3-21.2(chr7:11122492-16479303)x1 copy number loss See cases [RCV000142652] Chr7:11122492..16479303 [GRCh38]
Chr7:11162119..16518928 [GRCh37]
Chr7:11128644..16485453 [NCBI36]
Chr7:7p21.3-21.2
pathogenic
GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1 copy number loss See cases [RCV000142708] Chr7:10610069..25760560 [GRCh38]
Chr7:10649696..25800180 [GRCh37]
Chr7:10616221..25766705 [NCBI36]
Chr7:7p21.3-15.2
pathogenic
GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3 copy number gain See cases [RCV000143586] Chr7:43360..27196404 [GRCh38]
Chr7:43360..27236023 [GRCh37]
Chr7:138443..27202548 [NCBI36]
Chr7:7p22.3-15.2
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43360-17656861)x3 copy number gain See cases [RCV000449347] Chr7:43360..17656861 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3 copy number gain See cases [RCV000510652] Chr7:43360..23674928 [GRCh37]
Chr7:7p22.3-15.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3 copy number gain See cases [RCV000510275] Chr7:704573..29257946 [GRCh37]
Chr7:7p22.3-14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1 copy number loss See cases [RCV000511411] Chr7:14675063..18907030 [GRCh37]
Chr7:7p21.2-21.1
likely pathogenic
GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3 copy number gain See cases [RCV000511575] Chr7:7660104..18400293 [GRCh37]
Chr7:7p21.3-21.1
uncertain significance
GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3 copy number gain not provided [RCV000682908] Chr7:14544155..21719929 [GRCh37]
Chr7:7p21.2-15.3
pathogenic
NC_000007.14:g.(?_16308523)_(16689906_?)del deletion Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 [RCV000708184] Chr7:16308523..16689906 [GRCh38]
Chr7:16348148..16729531 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_015464.3(SOSTDC1):c.462C>G (p.Thr154=) single nucleotide variant not provided [RCV000972762] Chr7:16462707 [GRCh38]
Chr7:16502332 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_015464.3(SOSTDC1):c.530A>G (p.His177Arg) single nucleotide variant not provided [RCV000893646] Chr7:16462639 [GRCh38]
Chr7:16502264 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1 copy number loss not provided [RCV001005911] Chr7:13886653..20267202 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3 copy number gain not provided [RCV000848100] Chr7:43376..19520619 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_015464.3(SOSTDC1):c.104A>G (p.His35Arg) single nucleotide variant Inborn genetic diseases [RCV003247952] Chr7:16465565 [GRCh38]
Chr7:16505190 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3 copy number gain not provided [RCV001005919] Chr7:16027951..17081157 [GRCh37]
Chr7:7p21.2-21.1
likely benign
NC_000007.13:g.(?_16131320)_(17382688_?)del deletion not provided [RCV003107443] Chr7:16131320..17382688 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance
NM_015464.3(SOSTDC1):c.348A>G (p.Gly116=) single nucleotide variant not provided [RCV000897003] Chr7:16462821 [GRCh38]
Chr7:16502446 [GRCh37]
Chr7:7p21.2
benign
NM_015464.3(SOSTDC1):c.592del (p.Ser198fs) deletion not provided [RCV000974214] Chr7:16462577 [GRCh38]
Chr7:16502202 [GRCh37]
Chr7:7p21.2
benign
GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)x3 copy number gain not provided [RCV002472895] Chr7:15639869..16963424 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1 copy number loss Saethre-Chotzen syndrome [RCV001263216] Chr7:14470668..20385165 [GRCh37]
Chr7:7p21.2-21.1
pathogenic
GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1 copy number loss not provided [RCV001259423] Chr7:16279316..18429845 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance
GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1 copy number loss not provided [RCV001836593] Chr7:7909867..17213072 [GRCh37]
Chr7:7p21.3-21.1
uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082) copy number loss not specified [RCV002053667] Chr7:9358316..20982082 [GRCh37]
Chr7:7p21.3-15.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3 copy number gain See cases [RCV002287567] Chr7:43360..19485604 [GRCh37]
Chr7:7p22.3-21.1
pathogenic
NM_015464.3(SOSTDC1):c.580C>T (p.Arg194Trp) single nucleotide variant Inborn genetic diseases [RCV002779825] Chr7:16462589 [GRCh38]
Chr7:16502214 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_015464.3(SOSTDC1):c.239C>G (p.Ser80Cys) single nucleotide variant Inborn genetic diseases [RCV002797892] Chr7:16462930 [GRCh38]
Chr7:16502555 [GRCh37]
Chr7:7p21.2
uncertain significance
NM_015464.3(SOSTDC1):c.334A>G (p.Asn112Asp) single nucleotide variant Inborn genetic diseases [RCV003220675] Chr7:16462835 [GRCh38]
Chr7:16502460 [GRCh37]
Chr7:7p21.2
uncertain significance
GRCh37/hg19 7p21.2-21.1(chr7:15334035-16571028)x3 copy number gain not provided [RCV003484679] Chr7:15334035..16571028 [GRCh37]
Chr7:7p21.2-21.1
uncertain significance
NM_015464.3(SOSTDC1):c.404A>G (p.Asn135Ser) single nucleotide variant not provided [RCV003436661] Chr7:16462765 [GRCh38]
Chr7:16502390 [GRCh37]
Chr7:7p21.2
benign
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:718
Count of miRNA genes:306
Interacting mature miRNAs:350
Transcripts:ENST00000307068, ENST00000396652
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
UniSTS:471847  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,502,262 - 16,502,459UniSTSGRCh37
Build 36716,468,787 - 16,468,984RGDNCBI36
Celera716,482,010 - 16,482,207RGD
HuRef716,388,793 - 16,388,990UniSTS
CRA_TCAGchr7v2716,555,395 - 16,555,592UniSTS
A008L20  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,501,309 - 16,501,437UniSTSGRCh37
Build 36716,467,834 - 16,467,962RGDNCBI36
Celera716,481,057 - 16,481,185RGD
Cytogenetic Map7p21.1UniSTS
HuRef716,387,840 - 16,387,968UniSTS
CRA_TCAGchr7v2716,554,442 - 16,554,570UniSTS
GeneMap99-GB4 RH Map779.87UniSTS
NCBI RH Map7237.7UniSTS
SOSTDC1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37716,502,216 - 16,502,458UniSTSGRCh37
Celera716,481,964 - 16,482,206UniSTS
HuRef716,388,747 - 16,388,989UniSTS
CRA_TCAGchr7v2716,555,349 - 16,555,591UniSTS


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 2
Medium 258 7 53 85 19 5 838 7 86 116 114 424 79 2 436
Low 1738 620 761 139 215 55 1564 632 1887 165 895 856 88 1 217 1056 1 2
Below cutoff 386 1762 710 224 661 225 1665 1303 1640 81 370 213 4 910 1074 2

Sequence


RefSeq Acc Id: ENST00000307068   ⟹   ENSP00000304930
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl716,461,481 - 16,465,738 (-)Ensembl
RefSeq Acc Id: ENST00000396652   ⟹   ENSP00000379889
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl716,461,543 - 16,530,580 (-)Ensembl
RefSeq Acc Id: NM_015464   ⟹   NP_056279
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38716,461,481 - 16,465,738 (-)NCBI
GRCh37716,501,106 - 16,505,562 (-)NCBI
Build 36716,467,631 - 16,471,999 (-)NCBI Archive
Celera716,480,854 - 16,485,222 (-)RGD
HuRef716,387,637 - 16,392,005 (-)RGD
CHM1_1716,500,852 - 16,505,220 (-)NCBI
T2T-CHM13v2.0716,591,217 - 16,595,471 (-)NCBI
CRA_TCAGchr7v2716,554,239 - 16,558,607 (-)ENTREZGENE
Sequence:
RefSeq Acc Id: NP_056279   ⟸   NM_015464
- Peptide Label: precursor
- UniProtKB: Q96HJ7 (UniProtKB/Swiss-Prot),   A8MUA6 (UniProtKB/Swiss-Prot),   Q9Y3U3 (UniProtKB/Swiss-Prot),   Q6X4U4 (UniProtKB/Swiss-Prot),   A4D125 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000304930   ⟸   ENST00000307068
RefSeq Acc Id: ENSP00000379889   ⟸   ENST00000396652
Protein Domains
CTCK

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q6X4U4-F1-model_v2 AlphaFold Q6X4U4 1-206 view protein structure

Promoters
RGD ID:7209979
Promoter ID:EPDNEW_H10736
Type:multiple initiation site
Name:SOSTDC1_1
Description:sclerostin domain containing 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
GRCh38716,465,738 - 16,465,798EPDNEW
RGD ID:6806220
Promoter ID:HG_KWN:56397
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:UC003STG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36716,471,786 - 16,472,286 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:21748 AgrOrtholog
COSMIC SOSTDC1 COSMIC
Ensembl Genes ENSG00000171243 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000307068 ENTREZGENE
  ENST00000307068.5 UniProtKB/Swiss-Prot
  ENST00000396652.1 UniProtKB/Swiss-Prot
Gene3D-CATH 2.10.90.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000171243 GTEx
HGNC ID HGNC:21748 ENTREZGENE
Human Proteome Map SOSTDC1 Human Proteome Map
InterPro Cys_knot_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cystine-knot_cytokine UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Sclerostin/SOSTDC1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:25928 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 25928 ENTREZGENE
OMIM 609675 OMIM
PANTHER PTHR14903 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SCLEROSTIN DOMAIN-CONTAINING PROTEIN 1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Sclerostin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134937603 PharmGKB
PROSITE CTCK_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A4D125 ENTREZGENE, UniProtKB/TrEMBL
  A8MUA6 ENTREZGENE
  Q6X4U4 ENTREZGENE
  Q96HJ7 ENTREZGENE
  Q9Y3U3 ENTREZGENE
  SOSD1_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary A8MUA6 UniProtKB/Swiss-Prot
  Q96HJ7 UniProtKB/Swiss-Prot
  Q9Y3U3 UniProtKB/Swiss-Prot