WNT10B (Wnt family member 10B) - Rat Genome Database

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Gene: WNT10B (Wnt family member 10B) Homo sapiens
Analyze
Symbol: WNT10B
Name: Wnt family member 10B
RGD ID: 1312744
HGNC Page HGNC:12775
Description: Predicted to enable cytokine activity and frizzled binding activity. Involved in several processes, including chondrocyte differentiation; hematopoietic stem cell proliferation; and protein stabilization. Predicted to be located in extracellular region. Predicted to be active in extracellular space. Implicated in obesity; split hand-foot malformation 6; and tooth agenesis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protein Wnt-10b; SHFM6; STHAG8; wingless-type MMTV integration site family member 10B; wingless-type MMTV integration site family, member 10B; WNT-10B protein; WNT-12
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,965,340 - 48,971,735 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,965,340 - 48,971,735 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,359,123 - 49,365,518 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,645,390 - 47,651,810 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,645,390 - 47,651,810NCBI
Celera1248,153,932 - 48,160,449 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,390,715 - 46,397,232 (-)NCBIHuRef
CHM1_11249,324,923 - 49,331,441 (-)NCBICHM1_1
T2T-CHM13v2.01248,927,542 - 48,933,936 (-)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
1,2-dichloroethane  (ISO)
15-deoxy-Delta(12,14)-prostaglandin J2  (ISO)
17beta-estradiol  (EXP,ISO)
17beta-estradiol 3-benzoate  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,7-dihydropurine-6-thione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (ISO)
4,4'-sulfonyldiphenol  (EXP)
5-azacytidine  (ISO)
5-formyltetrahydrofolic acid  (ISO)
6-propyl-2-thiouracil  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
allethrin  (EXP)
atrazine  (ISO)
benzo[a]pyrene  (EXP)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
Benzo[k]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butanal  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP,ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
chlorpyrifos  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
dexamethasone  (ISO)
dibutyl phthalate  (ISO)
diosgenin  (ISO)
dorsomorphin  (EXP)
fenvalerate  (EXP)
genistein  (ISO)
lead(0)  (EXP)
linoleic acid  (ISO)
manganese(II) chloride  (ISO)
mercaptopurine  (ISO)
methotrexate  (ISO)
N-Nitrosopyrrolidine  (EXP)
O-methyleugenol  (EXP)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (ISO)
perfluorohexanesulfonic acid  (EXP)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP)
perfluorooctanoic acid  (EXP)
permethrin  (EXP)
phenothrin  (EXP)
purine-6-thiol  (ISO)
resveratrol  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (ISO)
sodium fluoride  (ISO)
sotorasib  (EXP)
tamoxifen  (EXP)
titanium dioxide  (ISO)
trametinib  (EXP)
trichostatin A  (EXP)
valproic acid  (ISO)
zinc atom  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
animal organ development  (IEA)
bone trabecula formation  (IEA,ISO)
canonical Wnt signaling pathway  (IBA,IDA,IEA,ISO)
cell fate commitment  (IBA)
cell population proliferation  (IEA,ISO)
cellular response to cAMP  (IEA,ISO)
cellular response to hydrostatic pressure  (ISO)
cellular response to parathyroid hormone stimulus  (IEA,ISO)
cellular response to retinoic acid  (ISS)
chondrocyte differentiation  (IEP)
epithelial cell differentiation  (IEA,ISO)
fat cell differentiation  (IEA,ISO)
fungiform papilla development  (IEA,ISO)
G2/M transition of mitotic cell cycle  (IEA,ISO)
hematopoietic stem cell proliferation  (IDA,IEA,ISO)
lipid metabolic process  (IEA,ISO)
myoblast development  (IEA,ISO)
myoblast differentiation involved in skeletal muscle regeneration  (IEA,ISO)
negative regulation of cold-induced thermogenesis  (IEA,ISS)
negative regulation of epithelial cell proliferation  (IEA,ISO)
negative regulation of fat cell differentiation  (IDA,IEA,ISO)
negative regulation of transcription by RNA polymerase II  (IEA,ISO)
neuron differentiation  (IBA,ISS)
obsolete cellular response to organic cyclic compound  (IEA)
osteoblast differentiation  (IEA,ISO)
positive regulation of apoptotic process  (IMP)
positive regulation of bone mineralization  (IEA,ISO)
positive regulation of canonical Wnt signaling pathway  (IEA,ISO)
positive regulation of DNA-binding transcription factor activity  (ISO)
positive regulation of epithelial cell differentiation  (IEA,ISO)
positive regulation of G2/M transition of mitotic cell cycle  (IEA,ISO)
positive regulation of hematopoietic stem cell proliferation  (IEA,ISO)
positive regulation of ossification  (IEA,ISO)
positive regulation of osteoblast differentiation  (IEA,ISO)
positive regulation of RNA polymerase II transcription preinitiation complex assembly  (IEA,ISO)
positive regulation of T cell differentiation  (IEA,ISO)
positive regulation of timing of anagen  (IEA,ISO)
positive regulation of transcription by RNA polymerase II  (IEA,ISO)
protein stabilization  (IDA)
regulation of cell cycle  (IEA,ISO)
regulation of fat cell differentiation  (IEA,ISO)
regulation of proteasomal ubiquitin-dependent protein catabolic process  (IEA,ISO)
regulation of protein metabolic process  (IEA,ISO)
regulation of skeletal muscle tissue development  (IEA,ISO)
regulation of transcription by RNA polymerase II  (IEA,ISO)
sensory perception of taste  (IEA,ISO)
skeletal muscle fiber development  (IEA,ISO)
skeletal muscle tissue regeneration  (IEA,ISO)
smoothened signaling pathway  (IEA,ISO)
T cell differentiation  (IEA,ISO)
transcription by RNA polymerase II  (IEA,ISO)
Wnt signaling pathway  (IEA,ISO)

Cellular Component

Molecular Function

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

References - curated
# Reference Title Reference Citation
1. Ectopic expression of Wnt10b decreases adiposity and improves glucose homeostasis in obese rats. Aslanidi G, etal., Am J Physiol Endocrinol Metab. 2007 Sep;293(3):E726-36. Epub 2007 Jun 19.
2. WNT10B mutations in human obesity. Christodoulides C, etal., Diabetologia. 2006 Apr;49(4):678-84. Epub 2006 Feb 14.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
5. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
6. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
7. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
8. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
9. The Wnt Homepage Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA
10. Alternative wnt signaling is initiated by distinct receptors. van Amerongen R, etal., Sci Signal. 2008 Sep 2;1(35):re9.
Additional References at PubMed
PMID:8167409   PMID:9121776   PMID:9284937   PMID:9441749   PMID:9787155   PMID:10937998   PMID:11350055   PMID:11713588   PMID:12437293   PMID:12477932   PMID:15135146   PMID:15190075  
PMID:15489334   PMID:16344560   PMID:17761539   PMID:18465804   PMID:18515319   PMID:19016593   PMID:19056892   PMID:19075223   PMID:19453261   PMID:19458884   PMID:19913121   PMID:20579865  
PMID:20628086   PMID:20628624   PMID:20635353   PMID:21321991   PMID:21554266   PMID:21873635   PMID:22041457   PMID:22189080   PMID:22890324   PMID:23104151   PMID:23135473   PMID:23307470  
PMID:23325361   PMID:23900840   PMID:24211389   PMID:25995040   PMID:26186194   PMID:26338900   PMID:26370090   PMID:27321946   PMID:27853307   PMID:28071181   PMID:28370659   PMID:28514442  
PMID:29150431   PMID:29364501   PMID:29427788   PMID:30149605   PMID:30246922   PMID:30563890   PMID:31050392   PMID:31089877   PMID:31433503   PMID:32460013   PMID:32694731   PMID:32762550  
PMID:32814053   PMID:33369218   PMID:33497493   PMID:33650656   PMID:33961781   PMID:34044678   PMID:34186245   PMID:37071682   PMID:39499777  


Genomics

Comparative Map Data
WNT10B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381248,965,340 - 48,971,735 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1248,965,340 - 48,971,735 (-)EnsemblGRCh38hg38GRCh38
GRCh371249,359,123 - 49,365,518 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361247,645,390 - 47,651,810 (-)NCBINCBI36Build 36hg18NCBI36
Build 341247,645,390 - 47,651,810NCBI
Celera1248,153,932 - 48,160,449 (-)NCBICelera
Cytogenetic Map12q13.12NCBI
HuRef1246,390,715 - 46,397,232 (-)NCBIHuRef
CHM1_11249,324,923 - 49,331,441 (-)NCBICHM1_1
T2T-CHM13v2.01248,927,542 - 48,933,936 (-)NCBIT2T-CHM13v2.0
Wnt10b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391598,668,593 - 98,676,093 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1598,668,593 - 98,676,031 (-)EnsemblGRCm39 Ensembl
GRCm381598,770,712 - 98,778,206 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1598,770,712 - 98,778,150 (-)EnsemblGRCm38mm10GRCm38
MGSCv371598,602,183 - 98,608,581 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361598,599,796 - 98,606,184 (-)NCBIMGSCv36mm8
Celera15100,921,391 - 100,927,785 (-)NCBICelera
Cytogenetic Map15F1NCBI
cM Map1554.65NCBI
Wnt10b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87131,801,046 - 131,806,850 (-)NCBIGRCr8
mRatBN7.27129,922,088 - 129,927,892 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7129,922,088 - 129,927,892 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7131,729,217 - 131,735,022 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07133,954,768 - 133,960,573 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07133,867,281 - 133,873,087 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07140,448,284 - 140,466,159 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7140,448,465 - 140,454,268 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0X114,958,456 - 114,976,226 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47137,541,197 - 137,547,000 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17137,617,649 - 137,623,456 (-)NCBI
Celera7126,411,054 - 126,416,855 (-)NCBICelera
Cytogenetic Map7q36NCBI
Wnt10b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555007,782,782 - 7,788,309 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049555007,782,782 - 7,800,281 (-)NCBIChiLan1.0ChiLan1.0
WNT10B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21045,205,454 - 45,219,702 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11245,202,215 - 45,216,463 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01239,771,163 - 39,785,411 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11240,659,106 - 40,665,734 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1240,659,106 - 40,665,734 (+)Ensemblpanpan1.1panPan2
WNT10B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1275,599,905 - 5,605,506 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl275,601,089 - 5,605,501 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2740,652,204 - 40,660,691 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0275,648,026 - 5,656,510 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl275,650,675 - 5,656,505 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1275,611,949 - 5,620,434 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0275,602,160 - 5,610,644 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02741,044,507 - 41,052,994 (-)NCBIUU_Cfam_GSD_1.0
Wnt10b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494566,386,524 - 66,396,592 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365126,768,240 - 6,774,172 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365126,768,240 - 6,774,172 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WNT10B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl514,997,381 - 15,003,567 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1514,997,377 - 15,013,928 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2515,407,596 - 15,422,005 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WNT10B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11145,205,728 - 45,229,050 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1145,205,566 - 45,210,893 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666037200,931,714 - 200,938,206 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wnt10b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248163,210,828 - 3,227,096 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248163,221,573 - 3,227,102 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WNT10B
83 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_003394.4(WNT10B):c.458_461dup (p.Asp155fs) duplication Split hand-foot malformation 6 [RCV000023161] Chr12:48968195..48968196 [GRCh38]
Chr12:49361978..49361979 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.1087C>G (p.Arg363Gly) single nucleotide variant not provided [RCV000520692] Chr12:48966178 [GRCh38]
Chr12:49359961 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.994C>T (p.Arg332Trp) single nucleotide variant Split hand-foot malformation 6 [RCV000008069]|not provided [RCV003555964] Chr12:48966271 [GRCh38]
Chr12:49360054 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.3(WNT10B):c.699G>A (p.Arg233=) single nucleotide variant Malignant melanoma [RCV000062515] Chr12:48967958 [GRCh38]
Chr12:49361741 [GRCh37]
Chr12:47648008 [NCBI36]
Chr12:12q13.12		 not provided
NM_003394.3(WNT10B):c.698G>A (p.Arg233Lys) single nucleotide variant Malignant melanoma [RCV000062516] Chr12:48967959 [GRCh38]
Chr12:49361742 [GRCh37]
Chr12:47648009 [NCBI36]
Chr12:12q13.12		 not provided
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 copy number gain See cases [RCV000139555] Chr12:121271..133196807 [GRCh38]
Chr12:282465..133773393 [GRCh37]
Chr12:100698..132283466 [NCBI36]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 copy number gain See cases [RCV000258805] Chr12:1..133851895 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic|likely pathogenic
GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3 copy number gain See cases [RCV000207454] Chr12:31886971..50360461 [GRCh37]
Chr12:12p11.21-q13.12		 pathogenic
NM_003394.4(WNT10B):c.786G>A (p.Trp262Ter) single nucleotide variant Tooth agenesis, selective, 8 [RCV000239472] Chr12:48966479 [GRCh38]
Chr12:49360262 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.632G>A (p.Arg211Gln) single nucleotide variant Tooth agenesis, selective, 8 [RCV000239578] Chr12:48968025 [GRCh38]
Chr12:49361808 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.995G>A (p.Arg332Gln) single nucleotide variant Split hand-foot malformation 6 [RCV003227802]|not provided [RCV000585078] Chr12:48966270 [GRCh38]
Chr12:49360053 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.338-1G>C single nucleotide variant Split hand-foot malformation 6 [RCV000656339] Chr12:48968320 [GRCh38]
Chr12:49362103 [GRCh37]
Chr12:12q13.12		 pathogenic|likely pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459)x3 copy number gain See cases [RCV000448835] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 copy number gain See cases [RCV000510482] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) copy number gain See cases [RCV000511643] Chr12:173787..133777902 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_003394.4(WNT10B):c.676C>T (p.Arg226Ter) single nucleotide variant Split hand-foot malformation 6 [RCV000625580]|WNT10B-related disorder [RCV004758043] Chr12:48967981 [GRCh38]
Chr12:49361764 [GRCh37]
Chr12:12q13.12		 pathogenic|likely pathogenic
NC_000012.11:g.26370251_54361538inv inversion not specified [RCV000714265] Chr12:26370251..54361538 [GRCh37]
Chr12:12p12.1-q13.13		 uncertain significance
GRCh37/hg19 12q13.12(chr12:49191810-49630201)x3 copy number gain not provided [RCV000683434] Chr12:49191810..49630201 [GRCh37]
Chr12:12q13.12		 uncertain significance
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 copy number gain not provided [RCV000750253] Chr12:621220..133779118 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 copy number gain not provided [RCV000750246] Chr12:191619..133777645 [GRCh37]
Chr12:12p13.33-q24.33		 pathogenic
NM_003394.4(WNT10B):c.689ACA[2] (p.Asn232del) microsatellite Split hand-foot malformation 6 [RCV000735854]|not provided [RCV004800566] Chr12:48967960..48967962 [GRCh38]
Chr12:49361743..49361745 [GRCh37]
Chr12:12q13.12		 pathogenic|likely pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:49055179-49466566)x3 copy number gain not provided [RCV000750395] Chr12:49055179..49466566 [GRCh37]
Chr12:12q13.11-13.12		 benign
NM_003394.4(WNT10B):c.290T>C (p.Leu97Pro) single nucleotide variant Split hand-foot malformation 6 [RCV000761463] Chr12:48970136 [GRCh38]
Chr12:49363919 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.-40-39C>T single nucleotide variant not provided [RCV001693328] Chr12:48970608 [GRCh38]
Chr12:49364391 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.36G>A (p.Ser12=) single nucleotide variant not provided [RCV000903611] Chr12:48970494 [GRCh38]
Chr12:49364277 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.337+7C>T single nucleotide variant not provided [RCV000882249] Chr12:48970082 [GRCh38]
Chr12:49363865 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.746G>T (p.Cys249Phe) single nucleotide variant Split hand-foot malformation 6 [RCV000785181] Chr12:48966519 [GRCh38]
Chr12:49360302 [GRCh37]
Chr12:12q13.12		 likely pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:49034325-49468966)x1 copy number loss Kabuki syndrome 1 [RCV000859976] Chr12:49034325..49468966 [GRCh37]
Chr12:12q13.11-13.12		 pathogenic
NM_003394.4(WNT10B):c.498A>C (p.Ala166=) single nucleotide variant not provided [RCV000917430] Chr12:48968159 [GRCh38]
Chr12:49361942 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.949T>A (p.Phe317Ile) single nucleotide variant Split hand-foot malformation 6 [RCV000785183] Chr12:48966316 [GRCh38]
Chr12:49360099 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_003394.4(WNT10B):c.817del (p.Ala273fs) deletion Split hand-foot malformation 6 [RCV000785180] Chr12:48966448 [GRCh38]
Chr12:49360231 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.817dup (p.Ala273fs) duplication Split hand-foot malformation 6 [RCV000785182]|Tooth agenesis, selective, 8 [RCV001253087] Chr12:48966447..48966448 [GRCh38]
Chr12:49360230..49360231 [GRCh37]
Chr12:12q13.12		 pathogenic|uncertain significance
NM_003394.4(WNT10B):c.901C>T (p.Pro301Ser) single nucleotide variant WNT10B-related disorder [RCV003916155]|not provided [RCV000964427]|not specified [RCV001724198] Chr12:48966364 [GRCh38]
Chr12:49360147 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.110C>G (p.Pro37Arg) single nucleotide variant not provided [RCV000912672] Chr12:48970316 [GRCh38]
Chr12:49364099 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.638T>G (p.Phe213Cys) single nucleotide variant Split hand-foot malformation 6 [RCV004813560] Chr12:48968019 [GRCh38]
Chr12:49361802 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_003394.4(WNT10B):c.229C>T (p.His77Tyr) single nucleotide variant not provided [RCV001591999] Chr12:48970197 [GRCh38]
Chr12:49363980 [GRCh37]
Chr12:12q13.12		 conflicting interpretations of pathogenicity|uncertain significance
NM_003394.4(WNT10B):c.*185A>G single nucleotide variant not provided [RCV001613579] Chr12:48965910 [GRCh38]
Chr12:49359693 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.712-292A>G single nucleotide variant not provided [RCV001565914] Chr12:48966845 [GRCh38]
Chr12:49360628 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.257A>C (p.Gln86Pro) single nucleotide variant Split hand-foot malformation 6 [RCV001027401] Chr12:48970169 [GRCh38]
Chr12:49363952 [GRCh37]
Chr12:12q13.12		 likely pathogenic
GRCh37/hg19 12q13.11-13.12(chr12:49024019-50299974)x3 copy number gain not provided [RCV001259140] Chr12:49024019..50299974 [GRCh37]
Chr12:12q13.11-13.12		 uncertain significance
NM_003394.4(WNT10B):c.1059C>T (p.His353=) single nucleotide variant Split hand-foot malformation 6 [RCV002243291]|Tooth agenesis, selective, 8 [RCV002243292]|not provided [RCV001707877]|not specified [RCV001530025] Chr12:48966206 [GRCh38]
Chr12:49359989 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.505C>T (p.Arg169Ter) single nucleotide variant Split-hand/foot malformation 6 [RCV001331051] Chr12:48968152 [GRCh38]
Chr12:49361935 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3 copy number gain See cases [RCV001353185] Chr12:37873948..49578619 [GRCh37]
Chr12:12q11-13.12		 likely pathogenic
NM_003394.4(WNT10B):c.1087C>T (p.Arg363Cys) single nucleotide variant not provided [RCV001770767] Chr12:48966178 [GRCh38]
Chr12:49359961 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.117_136del (p.Glu39fs) deletion Split hand-foot malformation 6 [RCV001807920] Chr12:48970290..48970309 [GRCh38]
Chr12:49364073..49364092 [GRCh37]
Chr12:12q13.12		 pathogenic
GRCh37/hg19 12q11-13.12(chr12:37857750-49791459) copy number gain not specified [RCV002052988] Chr12:37857750..49791459 [GRCh37]
Chr12:12q11-13.12		 pathogenic
NM_003394.4(WNT10B):c.1157A>G (p.Asn386Ser) single nucleotide variant not provided [RCV001898757] Chr12:48966108 [GRCh38]
Chr12:49359891 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.337+14G>C single nucleotide variant not provided [RCV002224903] Chr12:48970075 [GRCh38]
Chr12:49363858 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.288G>A (p.Ala96=) single nucleotide variant not provided [RCV002211220] Chr12:48970138 [GRCh38]
Chr12:49363921 [GRCh37]
Chr12:12q13.12		 benign|likely benign
NM_003394.4(WNT10B):c.47G>A (p.Gly16Asp) single nucleotide variant not provided [RCV002095140] Chr12:48970483 [GRCh38]
Chr12:49364266 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.396A>T (p.Val132=) single nucleotide variant not provided [RCV002184308] Chr12:48968261 [GRCh38]
Chr12:49362044 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.343C>T (p.Arg115Ter) single nucleotide variant Split hand-foot malformation 6 [RCV004788219] Chr12:48968314 [GRCh38]
Chr12:49362097 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.523del (p.His175fs) deletion Split hand-foot malformation 6 [RCV004797140] Chr12:48968134 [GRCh38]
Chr12:49361917 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_003394.4(WNT10B):c.741del (p.Lys246_Cys247insTer) deletion Split hand-foot malformation 6 [RCV002264897] Chr12:48966524 [GRCh38]
Chr12:49360307 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.343C>G (p.Arg115Gly) single nucleotide variant not provided [RCV002267294] Chr12:48968314 [GRCh38]
Chr12:49362097 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.499_500del (p.Leu167fs) deletion Split hand-foot malformation 6 [RCV002269797] Chr12:48968157..48968158 [GRCh38]
Chr12:49361940..49361941 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.893G>A (p.Arg298His) single nucleotide variant not provided [RCV002775408] Chr12:48966372 [GRCh38]
Chr12:49360155 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.337G>C (p.Gly113Arg) single nucleotide variant Split hand-foot malformation 6 [RCV002512480] Chr12:48970089 [GRCh38]
Chr12:49363872 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.700G>A (p.Val234Met) single nucleotide variant Inborn genetic diseases [RCV002860900] Chr12:48967957 [GRCh38]
Chr12:49361740 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.539C>T (p.Pro180Leu) single nucleotide variant Inborn genetic diseases [RCV002860146] Chr12:48968118 [GRCh38]
Chr12:49361901 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.892C>T (p.Arg298Cys) single nucleotide variant Inborn genetic diseases [RCV002993164] Chr12:48966373 [GRCh38]
Chr12:49360156 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.967A>C (p.Thr323Pro) single nucleotide variant Inborn genetic diseases [RCV002995094]|not provided [RCV002995093] Chr12:48966298 [GRCh38]
Chr12:49360081 [GRCh37]
Chr12:12q13.12		 likely benign|uncertain significance
NM_003394.4(WNT10B):c.832C>T (p.Arg278Trp) single nucleotide variant not provided [RCV002663096] Chr12:48966433 [GRCh38]
Chr12:49360216 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.725A>C (p.Asn242Thr) single nucleotide variant Inborn genetic diseases [RCV002925687] Chr12:48966540 [GRCh38]
Chr12:49360323 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.543C>T (p.Gly181=) single nucleotide variant not provided [RCV002591378] Chr12:48968114 [GRCh38]
Chr12:49361897 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.1062C>T (p.Asn354=) single nucleotide variant not provided [RCV003052993] Chr12:48966203 [GRCh38]
Chr12:49359986 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.241C>G (p.His81Asp) single nucleotide variant Inborn genetic diseases [RCV002704977] Chr12:48970185 [GRCh38]
Chr12:49363968 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.391G>A (p.Ala131Thr) single nucleotide variant not provided [RCV003002342] Chr12:48968266 [GRCh38]
Chr12:49362049 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.1063G>A (p.Val355Met) single nucleotide variant not provided [RCV002622440] Chr12:48966202 [GRCh38]
Chr12:49359985 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.767G>A (p.Cys256Tyr) single nucleotide variant not provided [RCV003059926] Chr12:48966498 [GRCh38]
Chr12:49360281 [GRCh37]
Chr12:12q13.12		 likely pathogenic|uncertain significance
NM_003394.4(WNT10B):c.523C>G (p.His175Asp) single nucleotide variant Inborn genetic diseases [RCV002787891] Chr12:48968134 [GRCh38]
Chr12:49361917 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.287C>A (p.Ala96Glu) single nucleotide variant Inborn genetic diseases [RCV002813262] Chr12:48970139 [GRCh38]
Chr12:49363922 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.913T>C (p.Ser305Pro) single nucleotide variant Inborn genetic diseases [RCV002935567] Chr12:48966352 [GRCh38]
Chr12:49360135 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.884_896del (p.Phe295fs) deletion not provided [RCV003008548] Chr12:48966369..48966381 [GRCh38]
Chr12:49360152..49360164 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.542G>A (p.Gly181Asp) single nucleotide variant not provided [RCV002631417] Chr12:48968115 [GRCh38]
Chr12:49361898 [GRCh37]
Chr12:12q13.12		 benign
NM_003394.4(WNT10B):c.854T>C (p.Ile285Thr) single nucleotide variant not provided [RCV002961935] Chr12:48966411 [GRCh38]
Chr12:49360194 [GRCh37]
Chr12:12q13.12		 conflicting interpretations of pathogenicity
NM_003394.4(WNT10B):c.1069C>T (p.Arg357Trp) single nucleotide variant not provided [RCV003149370] Chr12:48966196 [GRCh38]
Chr12:49359979 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.818C>T (p.Ala273Val) single nucleotide variant Inborn genetic diseases [RCV004064449]|not provided [RCV002583128] Chr12:48966447 [GRCh38]
Chr12:49360230 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.801G>A (p.Glu267=) single nucleotide variant not provided [RCV002586975] Chr12:48966464 [GRCh38]
Chr12:49360247 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.190C>T (p.Arg64Cys) single nucleotide variant Inborn genetic diseases [RCV003279644] Chr12:48970236 [GRCh38]
Chr12:49364019 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.1127G>A (p.Cys376Tyr) single nucleotide variant not provided [RCV003229246] Chr12:48966138 [GRCh38]
Chr12:49359921 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.841C>T (p.Arg281Trp) single nucleotide variant Inborn genetic diseases [RCV003192756] Chr12:48966424 [GRCh38]
Chr12:49360207 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.821C>A (p.Ala274Glu) single nucleotide variant Inborn genetic diseases [RCV003184015] Chr12:48966444 [GRCh38]
Chr12:49360227 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.811G>C (p.Val271Leu) single nucleotide variant Inborn genetic diseases [RCV003286957] Chr12:48966454 [GRCh38]
Chr12:49360237 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.53T>A (p.Leu18Gln) single nucleotide variant Split hand-foot malformation 6 [RCV003228717] Chr12:48970477 [GRCh38]
Chr12:49364260 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_003394.4(WNT10B):c.1070G>A (p.Arg357Gln) single nucleotide variant Inborn genetic diseases [RCV003179234] Chr12:48966195 [GRCh38]
Chr12:49359978 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.265G>A (p.Asp89Asn) single nucleotide variant not provided [RCV003325847] Chr12:48970161 [GRCh38]
Chr12:49363944 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.515G>A (p.Ser172Asn) single nucleotide variant not provided [RCV003329027] Chr12:48968142 [GRCh38]
Chr12:49361925 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.733C>T (p.Arg245Trp) single nucleotide variant Inborn genetic diseases [RCV003374438] Chr12:48966532 [GRCh38]
Chr12:49360315 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.833G>T (p.Arg278Leu) single nucleotide variant Inborn genetic diseases [RCV003375178] Chr12:48966432 [GRCh38]
Chr12:49360215 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.100C>G (p.Leu34Val) single nucleotide variant Inborn genetic diseases [RCV003372152] Chr12:48970326 [GRCh38]
Chr12:49364109 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.849C>A (p.Ile283=) single nucleotide variant Inborn genetic diseases [RCV004364500]|not provided [RCV003390221] Chr12:48966416 [GRCh38]
Chr12:49360199 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.115G>T (p.Glu39Ter) single nucleotide variant Split hand-foot malformation 6 [RCV003447696] Chr12:48970311 [GRCh38]
Chr12:49364094 [GRCh37]
Chr12:12q13.12		 likely pathogenic
NM_003394.4(WNT10B):c.623A>G (p.Lys208Arg) single nucleotide variant not provided [RCV003740128] Chr12:48968034 [GRCh38]
Chr12:49361817 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.836T>C (p.Leu279Pro) single nucleotide variant not provided [RCV003849321] Chr12:48966429 [GRCh38]
Chr12:49360212 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.969dup (p.Met324fs) duplication not provided [RCV003827246] Chr12:48966295..48966296 [GRCh38]
Chr12:49360078..49360079 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.105G>T (p.Lys35Asn) single nucleotide variant not provided [RCV003828427] Chr12:48970321 [GRCh38]
Chr12:49364104 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.87T>C (p.Asn29=) single nucleotide variant not provided [RCV003828428] Chr12:48970339 [GRCh38]
Chr12:49364122 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.255C>T (p.His85=) single nucleotide variant not provided [RCV003710974] Chr12:48970171 [GRCh38]
Chr12:49363954 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.75-12_75-10del microsatellite not provided [RCV003684506] Chr12:48970361..48970363 [GRCh38]
Chr12:49364144..49364146 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.683G>A (p.Arg228Gln) single nucleotide variant not provided [RCV003736236] Chr12:48967974 [GRCh38]
Chr12:49361757 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.798A>G (p.Pro266=) single nucleotide variant WNT10B-related disorder [RCV003912164] Chr12:48966467 [GRCh38]
Chr12:49360250 [GRCh37]
Chr12:12q13.12		 likely benign
NM_003394.4(WNT10B):c.242A>C (p.His81Pro) single nucleotide variant WNT10B-related disorder [RCV003949158] Chr12:48970184 [GRCh38]
Chr12:49363967 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.319A>G (p.Ser107Gly) single nucleotide variant Inborn genetic diseases [RCV004483114] Chr12:48970107 [GRCh38]
Chr12:49363890 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.(?_49308167)_(49375423_?)del deletion not provided [RCV004578512] Chr12:49308167..49375423 [GRCh37]
Chr12:12q13.12		 pathogenic
NM_003394.4(WNT10B):c.631C>T (p.Arg211Trp) single nucleotide variant Inborn genetic diseases [RCV004688782] Chr12:48968026 [GRCh38]
Chr12:49361809 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.(?_49298120)_(49488295_?)dup duplication Kabuki syndrome [RCV004578405] Chr12:49298120..49488295 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.344G>A (p.Arg115Gln) single nucleotide variant Inborn genetic diseases [RCV004678557] Chr12:48968313 [GRCh38]
Chr12:49362096 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.209C>T (p.Ala70Val) single nucleotide variant Inborn genetic diseases [RCV004678558] Chr12:48970217 [GRCh38]
Chr12:49364000 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.533C>T (p.Pro178Leu) single nucleotide variant Inborn genetic diseases [RCV004678559] Chr12:48968124 [GRCh38]
Chr12:49361907 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.847A>G (p.Ile283Val) single nucleotide variant Inborn genetic diseases [RCV004678560] Chr12:48966418 [GRCh38]
Chr12:49360201 [GRCh37]
Chr12:12q13.12		 uncertain significance
NC_000012.11:g.(?_49162374)_(49437585_?)dup duplication Kabuki syndrome [RCV004578406] Chr12:49162374..49437585 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.275G>T (p.Trp92Leu) single nucleotide variant WNT10B-related disorder [RCV004732435] Chr12:48970151 [GRCh38]
Chr12:49363934 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.661C>T (p.Arg221Trp) single nucleotide variant WNT10B-related disorder [RCV004758551] Chr12:48967996 [GRCh38]
Chr12:49361779 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.386T>C (p.Met129Thr) single nucleotide variant Inborn genetic diseases [RCV004967500] Chr12:48968271 [GRCh38]
Chr12:49362054 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.284C>A (p.Ser95Tyr) single nucleotide variant Inborn genetic diseases [RCV004967502] Chr12:48970142 [GRCh38]
Chr12:49363925 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.805C>T (p.Arg269Trp) single nucleotide variant Inborn genetic diseases [RCV004967499] Chr12:48966460 [GRCh38]
Chr12:49360243 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.774C>G (p.Phe258Leu) single nucleotide variant Inborn genetic diseases [RCV004967501] Chr12:48966491 [GRCh38]
Chr12:49360274 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.548G>A (p.Gly183Asp) single nucleotide variant Inborn genetic diseases [RCV004967503] Chr12:48968109 [GRCh38]
Chr12:49361892 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.55T>A (p.Phe19Ile) single nucleotide variant Inborn genetic diseases [RCV004967505] Chr12:48970475 [GRCh38]
Chr12:49364258 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.755C>T (p.Thr252Ile) single nucleotide variant Inborn genetic diseases [RCV004967506] Chr12:48966510 [GRCh38]
Chr12:49360293 [GRCh37]
Chr12:12q13.12		 uncertain significance
NM_003394.4(WNT10B):c.139G>T (p.Val47Leu) single nucleotide variant Inborn genetic diseases [RCV004967504] Chr12:48970287 [GRCh38]
Chr12:49364070 [GRCh37]
Chr12:12q13.12		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2654
Count of miRNA genes:806
Interacting mature miRNAs:941
Transcripts:ENST00000301061, ENST00000403957, ENST00000407467, ENST00000413630, ENST00000420388, ENST00000475740
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.

Markers in Region
RH91791  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,359,196 - 49,359,363UniSTSGRCh37
Build 361247,645,463 - 47,645,630RGDNCBI36
Celera1248,154,005 - 48,154,172RGD
Cytogenetic Map12q13UniSTS
HuRef1246,390,788 - 46,390,955UniSTS
GeneMap99-GB4 RH Map12217.11UniSTS
A009J45  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,359,174 - 49,359,393UniSTSGRCh37
Build 361247,645,441 - 47,645,660RGDNCBI36
Celera1248,153,983 - 48,154,202RGD
Cytogenetic Map12q13UniSTS
HuRef1246,390,766 - 46,390,985UniSTS
GeneMap99-GB4 RH Map12217.11UniSTS
WNT10B_7903  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,359,008 - 49,359,774UniSTSGRCh37
Build 361247,645,275 - 47,646,041RGDNCBI36
Celera1248,153,817 - 48,154,583RGD
HuRef1246,390,600 - 46,391,366UniSTS
G32596  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,359,174 - 49,359,393UniSTSGRCh37
Celera1248,153,983 - 48,154,202UniSTS
Cytogenetic Map12q13UniSTS
HuRef1246,390,766 - 46,390,985UniSTS
Wnt10b  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371249,360,306 - 49,361,815UniSTSGRCh37
Celera1248,155,115 - 48,156,623UniSTS
HuRef1246,391,898 - 46,393,406UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2428 2758 2226 4945 1670 2284 4 574 1902 416 2268 7092 6397 51 3705 1 781 1724 1599 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_023347 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003394 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011538724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017019919 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024449179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB070724 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC073610 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF028700 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK312906 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC096356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471111 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068266 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CQ970136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA530656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  MN309554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  U81787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X97057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000301061   ⟹   ENSP00000301061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,965,340 - 48,971,735 (-)Ensembl
Ensembl Acc Id: ENST00000403957   ⟹   ENSP00000385980
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,965,556 - 48,971,718 (-)Ensembl
Ensembl Acc Id: ENST00000407467   ⟹   ENSP00000384691
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,965,405 - 48,971,498 (-)Ensembl
Ensembl Acc Id: ENST00000413630   ⟹   ENSP00000398473
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,968,296 - 48,970,756 (-)Ensembl
Ensembl Acc Id: ENST00000420388   ⟹   ENSP00000404896
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,970,120 - 48,970,889 (-)Ensembl
Ensembl Acc Id: ENST00000475740
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1248,970,120 - 48,970,652 (-)Ensembl
RefSeq Acc Id: NM_003394   ⟹   NP_003385
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,965,340 - 48,971,735 (-)NCBI
GRCh371249,359,123 - 49,365,641 (-)ENTREZGENE
Build 361247,645,390 - 47,651,810 (-)NCBI Archive
HuRef1246,390,715 - 46,397,232 (-)ENTREZGENE
CHM1_11249,324,923 - 49,331,441 (-)NCBI
T2T-CHM13v2.01248,927,542 - 48,933,936 (-)NCBI
Sequence:
RefSeq Acc Id: NP_003385   ⟸   NM_003394
- Peptide Label: precursor
- UniProtKB: Q4VAJ5 (UniProtKB/Swiss-Prot),   Q4VAJ4 (UniProtKB/Swiss-Prot),   O00747 (UniProtKB/Swiss-Prot),   B2R7A5 (UniProtKB/Swiss-Prot),   Q8WZ97 (UniProtKB/Swiss-Prot),   O00744 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000398473   ⟸   ENST00000413630
Ensembl Acc Id: ENSP00000385980   ⟸   ENST00000403957
Ensembl Acc Id: ENSP00000384691   ⟸   ENST00000407467
Ensembl Acc Id: ENSP00000301061   ⟸   ENST00000301061
Ensembl Acc Id: ENSP00000404896   ⟸   ENST00000420388

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00744-F1-model_v2 AlphaFold O00744 1-389 view protein structure

Promoters
RGD ID:6814535
Promoter ID:HG_XEF:1860
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:NM_001079303,   NM_178219
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,649,806 - 47,650,306 (-)MPROMDB
RGD ID:6789961
Promoter ID:HG_KWN:15533
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   NB4
Transcripts:ENST00000403957,   OTTHUMT00000319864,   UC001RST.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,651,601 - 47,652,787 (-)MPROMDB
RGD ID:6790665
Promoter ID:HG_KWN:15532
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   NB4
Transcripts:OTTHUMT00000319863,   OTTHUMT00000319867,   OTTHUMT00000319868
Position:
Human AssemblyChrPosition (strand)Source
Build 361247,651,621 - 47,652,121 (-)MPROMDB
RGD ID:7223785
Promoter ID:EPDNEW_H17637
Type:initiation region
Name:WNT10B_1
Description:Wnt family member 10B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17638  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,971,671 - 48,971,731EPDNEW
RGD ID:7223783
Promoter ID:EPDNEW_H17638
Type:initiation region
Name:WNT10B_2
Description:Wnt family member 10B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H17637  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381248,971,853 - 48,971,913EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12775 AgrOrtholog
COSMIC WNT10B COSMIC
Ensembl Genes ENSG00000169884 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301061 ENTREZGENE
  ENST00000301061.9 UniProtKB/Swiss-Prot
  ENST00000403957.5 UniProtKB/TrEMBL
  ENST00000407467.5 UniProtKB/Swiss-Prot
  ENST00000413630.1 UniProtKB/TrEMBL
  ENST00000420388.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.2460.20 UniProtKB/Swiss-Prot
GTEx ENSG00000169884 GTEx
HGNC ID HGNC:12775 ENTREZGENE
Human Proteome Map WNT10B Human Proteome Map
InterPro Wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_C UniProtKB/Swiss-Prot
  Wnt_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7480 UniProtKB/Swiss-Prot
NCBI Gene 7480 ENTREZGENE
OMIM 601906 OMIM
PANTHER PROTEIN WNT-10B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37377 PharmGKB
PRINTS WNT10PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WNTPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WNT1 UniProtKB/Swiss-Prot
SMART WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2R7A5 ENTREZGENE
  B5MCC8_HUMAN UniProtKB/TrEMBL
  C9J3H3_HUMAN UniProtKB/TrEMBL
  C9JCI2_HUMAN UniProtKB/TrEMBL
  O00744 ENTREZGENE
  O00747 ENTREZGENE
  Q4VAJ4 ENTREZGENE
  Q4VAJ5 ENTREZGENE
  Q8WZ97 ENTREZGENE
  WN10B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2R7A5 UniProtKB/Swiss-Prot
  O00747 UniProtKB/Swiss-Prot
  Q4VAJ4 UniProtKB/Swiss-Prot
  Q4VAJ5 UniProtKB/Swiss-Prot
  Q8WZ97 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 WNT10B  Wnt family member 10B  WNT10B  wingless-type MMTV integration site family member 10B  Symbol and/or name change 5135510 APPROVED
2015-11-24 WNT10B  wingless-type MMTV integration site family member 10B  WNT10B  wingless-type MMTV integration site family, member 10B  Symbol and/or name change 5135510 APPROVED