WNT7A (Wnt family member 7A) - Rat Genome Database

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Advanced Search (OLGA)
Gene: WNT7A (Wnt family member 7A) Homo sapiens
Analyze
Symbol: WNT7A
Name: Wnt family member 7A
RGD ID: 69159
HGNC Page HGNC:12786
Description: Enables cytokine activity. Involved in several processes, including Wnt signaling pathway; cartilage development; and embryonic limb morphogenesis. Is active in glutamatergic synapse. Implicated in Fuhrmann syndrome and Schinzel type phocomelia. Biomarker of leiomyoma.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protein Wnt-7a; proto-oncogene Wnt7a protein; SANTOS; wingless-related mmtv integration site 7a; wingless-type MMTV integration site family member 7A; wingless-type MMTV integration site family, member 7A; Wnt-7a
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
GRCh38313,816,258 - 13,880,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl313,816,258 - 13,880,071 (-)EnsemblGRCh38hg38GRCh38
GRCh37313,857,755 - 13,921,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36313,835,083 - 13,896,619 (-)NCBINCBI36Build 36hg18NCBI36
Build 34313,835,082 - 13,896,619NCBI
Celera313,798,391 - 13,859,925 (-)NCBICelera
Cytogenetic Map3p25.1NCBI
HuRef313,793,735 - 13,855,835 (-)NCBIHuRef
CHM1_1313,810,090 - 13,871,973 (-)NCBICHM1_1
T2T-CHM13v2.0313,816,895 - 13,880,668 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
ammonium chloride  (ISO)
amosite asbestos  (EXP)
antimycin A  (ISO)
arsenite(3-)  (ISO)
asarone  (ISO)
benzo[a]pyrene  (ISO)
bisphenol A  (ISO)
C60 fullerene  (ISO)
cadmium atom  (ISO)
cadmium dichloride  (EXP,ISO)
capsaicin  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
clobetasol  (ISO)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
crocidolite asbestos  (EXP)
cyfluthrin  (EXP)
cypermethrin  (EXP)
D-glucose  (ISO)
Di-n-hexyl phthalate  (ISO)
dibutyl phthalate  (ISO)
dieldrin  (ISO)
diethylstilbestrol  (EXP,ISO)
Diisodecyl phthalate  (ISO)
dimethoate  (ISO)
dipentyl phthalate  (ISO)
endosulfan  (ISO)
ethanol  (ISO)
ethylparaben  (EXP)
fenvalerate  (ISO)
folic acid  (ISO)
fructose  (ISO)
fulvestrant  (EXP)
genistein  (EXP,ISO)
glucose  (ISO)
glyphosate  (EXP,ISO)
lead diacetate  (EXP,ISO)
lead(0)  (ISO)
methylseleninic acid  (EXP)
nickel subsulfide  (ISO)
niclosamide  (EXP)
ozone  (ISO)
pirinixic acid  (EXP)
progesterone  (ISO)
pyrvinium  (EXP)
rotenone  (ISO)
serpentine asbestos  (EXP)
silicon dioxide  (EXP)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
testosterone  (EXP)
Theaflavin 3,3'-digallate  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
XAV939  (EXP)
zearalenone  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA)
animal organ development  (IEA)
apoptotic process  (IEA)
asymmetric protein localization involved in cell fate determination  (IEA)
axonogenesis  (TAS)
canonical Wnt signaling pathway  (IBA,IDA,IEA,ISO)
cartilage condensation  (IDA)
cartilage development  (IEA)
cell differentiation  (IEA)
cell fate commitment  (IBA)
cell proliferation in forebrain  (IDA)
cellular response to transforming growth factor beta stimulus  (IEP)
central nervous system vasculogenesis  (IEA)
cerebellar granule cell differentiation  (IEA)
chondrocyte differentiation  (IDA)
dendritic spine morphogenesis  (IDA,IEA)
dorsal/ventral pattern formation  (IEA)
embryonic axis specification  (IMP)
embryonic digit morphogenesis  (IMP)
embryonic forelimb morphogenesis  (IEA,IMP)
embryonic hindlimb morphogenesis  (IEA,IMP)
embryonic limb morphogenesis  (IEA)
establishment of blood-brain barrier  (IEA)
establishment of cell polarity  (IEA)
excitatory synapse assembly  (TAS)
forelimb morphogenesis  (ISO)
hindlimb morphogenesis  (ISO)
lens fiber cell development  (ISS)
limb development  (IEA)
negative regulation of apoptotic process  (IEA)
negative regulation of neurogenesis  (IDA)
neuron differentiation  (IBA)
neurotransmitter secretion  (IEA)
non-canonical Wnt signaling pathway  (IEA)
oviduct development  (IEA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of endothelial cell migration  (IEA)
positive regulation of epithelial cell proliferation involved in wound healing  (IDA)
positive regulation of excitatory postsynaptic potential  (IDA,IEA)
positive regulation of excitatory synapse assembly  (IDA)
positive regulation of gene expression  (IEA)
positive regulation of JNK cascade  (IBA,IEA,ISO)
positive regulation of protein localization to presynapse  (TAS)
positive regulation of protein metabolic process  (IDA)
positive regulation of synapse assembly  (IDA,IEA)
positive regulation of transcription by RNA polymerase II  (IDA)
postsynapse assembly  (TAS)
presynapse assembly  (TAS)
regulation of axon diameter  (IEA)
regulation of axonogenesis  (IEA)
regulation of cell population proliferation  (IEA)
regulation of epithelial cell proliferation  (IEA)
regulation of postsynapse organization  (IEA)
regulation of presynapse assembly  (EXP,IDA,IMP)
regulation of synaptic vesicle exocytosis  (IEA)
reproductive structure development  (ISO)
response to estradiol  (IEA,ISO)
response to estrogen  (IEA)
secondary palate development  (IMP)
sex differentiation  (TAS)
skeletal muscle satellite cell activation  (IEA)
skeletal muscle satellite cell maintenance involved in skeletal muscle regeneration  (IEA)
skeletal system morphogenesis  (ISO)
skin morphogenesis  (ISO)
somatic stem cell division  (IEA)
somatic stem cell population maintenance  (IEA)
stem cell development  (IDA)
synapse assembly  (IEA)
synapse organization  (IEA)
synaptic vesicle recycling  (TAS)
system development  (IEA)
tissue development  (IEA)
uterus development  (IEA)
uterus morphogenesis  (IEA)
Wnt signaling pathway  (IEA)
Wnt signaling pathway, planar cell polarity pathway  (IDA)
wound healing, spreading of epidermal cells  (IDA)

Cellular Component

Molecular Function

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

Human Phenotype
Abnormal finger flexion crease  (IAGP)
Abnormal pinna morphology  (IAGP)
Abnormal tibia morphology  (IAGP)
Absent toenail  (IAGP)
Amenorrhea  (IAGP)
Anal atresia  (IAGP)
Anonychia  (IAGP)
Anteriorly displaced genitalia  (IAGP)
Aplasia of the ulna  (IAGP)
Aplasia of the uterus  (IAGP)
Aplasia/Hypoplasia involving the carpal bones  (IAGP)
Aplasia/Hypoplasia involving the metacarpal bones  (IAGP)
Aplasia/Hypoplasia involving the pelvis  (IAGP)
Aplasia/Hypoplasia of fingers  (IAGP)
Aplasia/Hypoplasia of metatarsal bones  (IAGP)
Aplasia/Hypoplasia of the 5th finger  (IAGP)
Aplasia/hypoplasia of the extremities  (IAGP)
Aplasia/hypoplasia of the femur  (IAGP)
Aplasia/Hypoplasia of the fibula  (IAGP)
Aplasia/Hypoplasia of the phalanges of the hand  (IAGP)
Aplasia/Hypoplasia of the phalanges of the toes  (IAGP)
Aplasia/Hypoplasia of the pubic bone  (IAGP)
Aplasia/Hypoplasia of the sacrum  (IAGP)
Aplasia/Hypoplasia of the tarsal bones  (IAGP)
Aplasia/Hypoplasia of the ulna  (IAGP)
Aplastic pubic bone  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad clavicles  (IAGP)
Broad neck  (IAGP)
Broad ribs  (IAGP)
Calvarial skull defect  (IAGP)
Carpal bone aplasia  (IAGP)
Cleft palate  (IAGP)
Clinodactyly  (IAGP)
Congenital hip dislocation  (IAGP)
Congenital pseudoarthrosis of the clavicle  (IAGP)
Cryptorchidism  (IAGP)
Decreased calvarial ossification  (IAGP)
Disproportionate short stature  (IAGP)
Ectrodactyly  (IAGP)
Elbow ankylosis  (IAGP)
Elbow flexion contracture  (IAGP)
Epicanthus  (IAGP)
Femoral bowing  (IAGP)
Fibular aplasia  (IAGP)
Finger aplasia  (IAGP)
Finger syndactyly  (IAGP)
Foot oligodactyly  (IAGP)
Genu valgum  (IAGP)
Hemivertebrae  (IAGP)
High palate  (IAGP)
High, narrow palate  (IAGP)
Hip dislocation  (IAGP)
Humeroradial synostosis  (IAGP)
Hydrops fetalis  (IAGP)
Hypoplasia of penis  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic iliac wing  (IAGP)
Hypoplastic nipples  (IAGP)
Hypoplastic pelvis  (IAGP)
Hypospadias  (IAGP)
Intrauterine growth retardation  (IAGP)
Long ear  (IAGP)
Long face  (IAGP)
Low-set ears  (IAGP)
Meningocele  (IAGP)
Metatarsus adductus  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Nail dysplasia  (IAGP)
Narrow palate  (IAGP)
Occipital meningocele  (IAGP)
Oligodactyly  (IAGP)
Patellar aplasia  (IAGP)
Pectus carinatum  (IAGP)
Phocomelia  (IAGP)
Pilonidal sinus  (IAGP)
Polydactyly  (IAGP)
Postaxial hand polydactyly  (IAGP)
Postaxial polydactyly  (IAGP)
Preaxial polydactyly  (IAGP)
Prominent sternum  (IAGP)
Protruding ear  (IAGP)
Radial bowing  (IAGP)
Short foot  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short stature  (IAGP)
Small scrotum  (IAGP)
Split hand  (IAGP)
Syndactyly  (IAGP)
Talipes  (IAGP)
Talipes equinovarus  (IAGP)
Toe syndactyly  (IAGP)
Tracheoesophageal fistula  (IAGP)
Ulnar deviation of finger  (IAGP)
Wide nasal bridge  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Secreted frizzled-related protein 4 regulates two Wnt7a signaling pathways and inhibits proliferation in endometrial cancer cells. Carmon KS and Loose DS, Mol Cancer Res. 2008 Jun;6(6):1017-28.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Decreased expression of Wnt7a mRNA is inversely associated with the expression of estrogen receptor-alpha in human uterine leiomyoma. Li S, etal., J Clin Endocrinol Metab. 2001 Jan;86(1):454-7.
4. Pax6 is required for production and maintenance of progenitor cells in postnatal hippocampal neurogenesis. Maekawa M, etal., Genes Cells. 2005 Oct;10(10):1001-14.
5. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
6. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
7. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
10. The Wnt Homepage Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA
11. Transformation by Wnt family proteins correlates with regulation of beta-catenin. Shimizu H, etal., Cell Growth Differ. 1997 Dec;8(12):1349-58.
12. Alternative wnt signaling is initiated by distinct receptors. van Amerongen R, etal., Sci Signal. 2008 Sep 2;1(35):re9.
13. Differential transformation of mammary epithelial cells by Wnt genes. Wong GT, etal., Mol Cell Biol. 1994 Sep;14(9):6278-86.
Additional References at PubMed
PMID:8167409   PMID:8168088   PMID:8893824   PMID:9161407   PMID:9790192   PMID:11070089   PMID:11784006   PMID:12477932   PMID:12843296   PMID:12857724   PMID:12893825   PMID:12937339  
PMID:14550385   PMID:15040835   PMID:15082716   PMID:15705594   PMID:15802269   PMID:16169070   PMID:16258938   PMID:16805831   PMID:16826533   PMID:16835228   PMID:17201809   PMID:17202865  
PMID:17588571   PMID:18230341   PMID:18413325   PMID:18538017   PMID:18606951   PMID:18986540   PMID:19054571   PMID:19159115   PMID:19171330   PMID:19453261   PMID:19849868   PMID:20083228  
PMID:20219685   PMID:20379614   PMID:20470940   PMID:20501643   PMID:20503388   PMID:20530549   PMID:20709709   PMID:20845993   PMID:20949531   PMID:21271649   PMID:21344627   PMID:21670302  
PMID:21873635   PMID:22177312   PMID:22232518   PMID:22294752   PMID:22403725   PMID:22784633   PMID:22986341   PMID:22987443   PMID:22988876   PMID:23056560   PMID:23144326   PMID:23321718  
PMID:23686814   PMID:23727605   PMID:24449494   PMID:24711502   PMID:25030175   PMID:25632963   PMID:25653486   PMID:25705850   PMID:25728679   PMID:25978974   PMID:26055144   PMID:26342861  
PMID:26388562   PMID:26908622   PMID:27195958   PMID:27638328   PMID:28114283   PMID:28165497   PMID:28456695   PMID:28514442   PMID:28733458   PMID:28855715   PMID:28872671   PMID:28917830  
PMID:28971890   PMID:29549123   PMID:29763843   PMID:30026314   PMID:30361522   PMID:30747225   PMID:31144375   PMID:31271226   PMID:31852613   PMID:31886205   PMID:32319613   PMID:32436833  
PMID:32814053   PMID:32991049   PMID:33150795   PMID:33846764   PMID:33961781   PMID:34739062   PMID:37541622   PMID:37694534   PMID:37852257   PMID:38246919  


Genomics

Comparative Map Data
WNT7A
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38313,816,258 - 13,880,071 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl313,816,258 - 13,880,071 (-)EnsemblGRCh38hg38GRCh38
GRCh37313,857,755 - 13,921,568 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36313,835,083 - 13,896,619 (-)NCBINCBI36Build 36hg18NCBI36
Build 34313,835,082 - 13,896,619NCBI
Celera313,798,391 - 13,859,925 (-)NCBICelera
Cytogenetic Map3p25.1NCBI
HuRef313,793,735 - 13,855,835 (-)NCBIHuRef
CHM1_1313,810,090 - 13,871,973 (-)NCBICHM1_1
T2T-CHM13v2.0313,816,895 - 13,880,668 (-)NCBIT2T-CHM13v2.0
Wnt7a
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39691,340,963 - 91,388,335 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl691,340,963 - 91,388,345 (-)EnsemblGRCm39 Ensembl
GRCm38691,363,981 - 91,411,353 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl691,363,981 - 91,411,363 (-)EnsemblGRCm38mm10GRCm38
MGSCv37691,313,977 - 91,361,363 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36691,329,487 - 91,376,873 (-)NCBIMGSCv36mm8
Celera693,257,779 - 93,305,821 (-)NCBICelera
Cytogenetic Map6D1NCBI
cM Map640.45NCBI
Wnt7a
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr84125,420,276 - 125,466,149 (-)NCBIGRCr8
mRatBN7.24123,863,108 - 123,908,981 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl4123,863,108 - 123,908,981 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx4129,329,923 - 129,375,873 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.04125,104,358 - 125,150,304 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.04123,728,903 - 123,774,853 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.04122,994,425 - 123,040,609 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl4122,994,425 - 123,040,609 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04187,505,391 - 187,551,604 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.44125,541,281 - 125,586,167 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.14125,786,638 - 125,787,010 (-)NCBI
Celera4112,782,267 - 112,828,322 (-)NCBICelera
Cytogenetic Map4q34NCBI
Wnt7a
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495542912,647,993 - 12,694,895 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495542912,647,993 - 12,693,998 (+)NCBIChiLan1.0ChiLan1.0
WNT7A
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2213,792,607 - 13,856,355 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1313,797,369 - 13,861,104 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0313,733,487 - 13,797,189 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1314,075,359 - 14,138,386 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl314,077,839 - 14,138,386 (-)Ensemblpanpan1.1panPan2
WNT7A
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1204,072,010 - 4,139,521 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl204,073,929 - 4,139,436 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha204,112,838 - 4,179,523 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0204,096,079 - 4,162,950 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl204,096,088 - 4,163,110 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1203,815,330 - 3,882,330 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0204,137,783 - 4,204,657 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0204,102,223 - 4,168,959 (-)NCBIUU_Cfam_GSD_1.0
Wnt7a
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494219,620,674 - 19,645,097 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493689845,115 - 70,326 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493689845,903 - 70,313 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WNT7A
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1370,538,894 - 70,602,454 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11370,538,802 - 70,602,464 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21377,997,741 - 78,061,325 (+)NCBISscrofa10.2Sscrofa10.2susScr3
WNT7A
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12249,805,415 - 49,863,115 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2249,805,463 - 49,862,830 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666041116,634,304 - 116,694,158 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wnt7a
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462479612,431,959 - 12,472,303 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462479612,431,310 - 12,472,303 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WNT7A
100 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004625.4(WNT7A):c.665G>A (p.Arg222Gln) single nucleotide variant not provided [RCV000722721] Chr3:13819329 [GRCh38]
Chr3:13860826 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.874C>T (p.Arg292Cys) single nucleotide variant Schinzel phocomelia syndrome [RCV000008526] Chr3:13819120 [GRCh38]
Chr3:13860617 [GRCh37]
Chr3:3p25.1		 pathogenic|likely pathogenic
NM_004625.4(WNT7A):c.325G>A (p.Ala109Thr) single nucleotide variant Fuhrmann syndrome [RCV000008527] Chr3:13854777 [GRCh38]
Chr3:13896274 [GRCh37]
Chr3:3p25.1		 pathogenic
NM_004625.4(WNT7A):c.610G>A (p.Gly204Ser) single nucleotide variant Fuhrmann syndrome [RCV004821964]|Schinzel phocomelia syndrome [RCV000029192]|not provided [RCV000493094] Chr3:13819384 [GRCh38]
Chr3:13860881 [GRCh37]
Chr3:3p25.1		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_004625.3(WNT7A):c.298+10029A>G single nucleotide variant Lung cancer [RCV000092967] Chr3:13864918 [GRCh38]
Chr3:13906415 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.664C>T (p.Arg222Trp) single nucleotide variant Schinzel phocomelia syndrome [RCV000033175] Chr3:13819330 [GRCh38]
Chr3:13860827 [GRCh37]
Chr3:3p25.1		 pathogenic
NM_004625.4(WNT7A):c.214G>A (p.Glu72Lys) single nucleotide variant Schinzel phocomelia syndrome [RCV000033263] Chr3:13875031 [GRCh38]
Chr3:13916528 [GRCh37]
Chr3:3p25.1		 pathogenic
GRCh38/hg38 3p26.3-22.2(chr3:52266-37148076)x3 copy number gain See cases [RCV000051097] Chr3:52266..37148076 [GRCh38]
Chr3:93949..37189567 [GRCh37]
Chr3:68949..37164571 [NCBI36]
Chr3:3p26.3-22.2		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:52066-20280127)x3 copy number gain See cases [RCV000051690] Chr3:52066..20280127 [GRCh38]
Chr3:93749..20321619 [GRCh37]
Chr3:68749..20296623 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-24.1(chr3:52266-29248782)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051718]|See cases [RCV000051718] Chr3:52266..29248782 [GRCh38]
Chr3:93949..29290273 [GRCh37]
Chr3:68949..29265277 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:63843-19510600)x3 copy number gain See cases [RCV000051719] Chr3:63843..19510600 [GRCh38]
Chr3:105526..19552092 [GRCh37]
Chr3:80526..19527096 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p25.3-22.2(chr3:11463328-38919543)x3 copy number gain See cases [RCV000051720] Chr3:11463328..38919543 [GRCh38]
Chr3:11504802..38961034 [GRCh37]
Chr3:11479802..38936038 [NCBI36]
Chr3:3p25.3-22.2		 pathogenic
NM_004625.3(WNT7A):c.565C>T (p.Arg189Ter) single nucleotide variant Malignant melanoma [RCV000065852] Chr3:13854537 [GRCh38]
Chr3:13896034 [GRCh37]
Chr3:13871035 [NCBI36]
Chr3:3p25.1		 not provided
NM_004625.4(WNT7A):c.487G>A (p.Ala163Thr) single nucleotide variant Bladder exstrophy-epispadias-cloacal extrophy complex [RCV000172901] Chr3:13854615 [GRCh38]
Chr3:13896112 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh38/hg38 3p25.1(chr3:13325295-13882924)x4 copy number gain See cases [RCV000137624] Chr3:13325295..13882924 [GRCh38]
Chr3:13366795..13924421 [GRCh37]
Chr3:13341795..13899422 [NCBI36]
Chr3:3p25.1		 uncertain significance
GRCh38/hg38 3p26.3-24.1(chr3:32241-30064208)x3 copy number gain See cases [RCV000138004] Chr3:32241..30064208 [GRCh38]
Chr3:73914..30105699 [GRCh37]
Chr3:48914..30080703 [NCBI36]
Chr3:3p26.3-24.1		 pathogenic
GRCh38/hg38 3p26.3-24.3(chr3:32241-20334387)x3 copy number gain See cases [RCV000137941] Chr3:32241..20334387 [GRCh38]
Chr3:73914..20375879 [GRCh37]
Chr3:48914..20350883 [NCBI36]
Chr3:3p26.3-24.3		 pathogenic
GRCh38/hg38 3p26.3-22.1(chr3:53308-41381521)x3 copy number gain See cases [RCV000141810] Chr3:53308..41381521 [GRCh38]
Chr3:94991..41423012 [GRCh37]
Chr3:69991..41398016 [NCBI36]
Chr3:3p26.3-22.1		 pathogenic
GRCh38/hg38 3p26.1-25.1(chr3:7356110-14360442)x3 copy number gain See cases [RCV000143766] Chr3:7356110..14360442 [GRCh38]
Chr3:7397797..14401942 [GRCh37]
Chr3:7372797..14376946 [NCBI36]
Chr3:3p26.1-25.1		 pathogenic
NM_004625.4(WNT7A):c.861G>A (p.Val287=) single nucleotide variant not provided [RCV000178217]|not specified [RCV003479046] Chr3:13819133 [GRCh38]
Chr3:13860630 [GRCh37]
Chr3:3p25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004625.4(WNT7A):c.232C>T (p.Arg78Cys) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000207359] Chr3:13875013 [GRCh38]
Chr3:13916510 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.304C>T (p.Arg102Trp) single nucleotide variant Schinzel phocomelia syndrome [RCV000239449] Chr3:13854798 [GRCh38]
Chr3:13896295 [GRCh37]
Chr3:3p25.1		 pathogenic
NM_004625.4(WNT7A):c.75C>T (p.Gly25=) single nucleotide variant WNT7A-related disorder [RCV003977734]|not provided [RCV000883704]|not specified [RCV000273739] Chr3:13875170 [GRCh38]
Chr3:13916667 [GRCh37]
Chr3:3p25.1		 benign|likely benign
NM_004625.4(WNT7A):c.72-8C>T single nucleotide variant not provided [RCV000386268] Chr3:13875181 [GRCh38]
Chr3:13916678 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.269G>A (p.Arg90His) single nucleotide variant Inborn genetic diseases [RCV003258726]|not provided [RCV000287478] Chr3:13874976 [GRCh38]
Chr3:13916473 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.399C>T (p.Cys133=) single nucleotide variant WNT7A-related disorder [RCV003949916]|not provided [RCV000890933]|not specified [RCV000324187] Chr3:13854703 [GRCh38]
Chr3:13896200 [GRCh37]
Chr3:3p25.1		 benign|likely benign
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) single nucleotide variant WNT7A-related disorder [RCV003935617]|not provided [RCV000597563] Chr3:13854547 [GRCh38]
Chr3:13896044 [GRCh37]
Chr3:3p25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004625.4(WNT7A):c.733C>T (p.Arg245Cys) single nucleotide variant not provided [RCV000722267] Chr3:13819261 [GRCh38]
Chr3:13860758 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) single nucleotide variant not provided [RCV000591839] Chr3:13818966 [GRCh38]
Chr3:13860463 [GRCh37]
Chr3:3p25.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) single nucleotide variant WNT7A-related disorder [RCV003905516]|not provided [RCV000596310] Chr3:13875032 [GRCh38]
Chr3:13916529 [GRCh37]
Chr3:3p25.1		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821)x3 copy number gain See cases [RCV000447247] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181)x3 copy number gain See cases [RCV000448528] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p26.3-22.3(chr3:61891-33958201)x3 copy number gain See cases [RCV000510429] Chr3:61891..33958201 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-37459464)x3 copy number gain See cases [RCV000511463] Chr3:61891..37459464 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
GRCh37/hg19 3p25.1-24.3(chr3:13720222-17808236)x1 copy number loss See cases [RCV000511037] Chr3:13720222..17808236 [GRCh37]
Chr3:3p25.1-24.3		 likely pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3 copy number gain See cases [RCV000511055] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
NM_004625.4(WNT7A):c.572T>C (p.Ile191Thr) single nucleotide variant Inborn genetic diseases [RCV003261210] Chr3:13819422 [GRCh38]
Chr3:13860919 [GRCh37]
Chr3:3p25.1		 uncertain significance
GRCh37/hg19 3p26.3-q29(chr3:61892-197851986) copy number gain See cases [RCV000512358] Chr3:61892..197851986 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-24.3(chr3:1897972-19519085)x3 copy number gain not provided [RCV000682215] Chr3:1897972..19519085 [GRCh37]
Chr3:3p26.3-24.3		 pathogenic
GRCh37/hg19 3p26.1-24.3(chr3:5173870-16760262)x3 copy number gain not provided [RCV000682233] Chr3:5173870..16760262 [GRCh37]
Chr3:3p26.1-24.3		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:61495-197838262)x3 copy number gain not provided [RCV000742138] Chr3:61495..197838262 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p26.3-q29(chr3:60174-197948027)x3 copy number gain not provided [RCV000742133] Chr3:60174..197948027 [GRCh37]
Chr3:3p26.3-q29		 pathogenic
GRCh37/hg19 3p25.2-24.2(chr3:13276005-24295240)x3 copy number gain not provided [RCV000742260] Chr3:13276005..24295240 [GRCh37]
Chr3:3p25.2-24.2		 pathogenic
NM_004625.4(WNT7A):c.624G>A (p.Ser208=) single nucleotide variant not provided [RCV000919517] Chr3:13819370 [GRCh38]
Chr3:13860867 [GRCh37]
Chr3:3p25.1		 benign|likely benign
NM_004625.4(WNT7A):c.72-124C>A single nucleotide variant not provided [RCV001641060] Chr3:13875297 [GRCh38]
Chr3:13916794 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.-123G>T single nucleotide variant not provided [RCV001570222] Chr3:13879939 [GRCh38]
Chr3:13921436 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.-168T>C single nucleotide variant not provided [RCV001570488] Chr3:13879984 [GRCh38]
Chr3:13921481 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.570+212G>C single nucleotide variant not provided [RCV001690133] Chr3:13854320 [GRCh38]
Chr3:13895817 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.171C>T (p.Asp57=) single nucleotide variant WNT7A-related disorder [RCV003958134]|not provided [RCV000900516] Chr3:13875074 [GRCh38]
Chr3:13916571 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.259C>T (p.Leu87=) single nucleotide variant not provided [RCV000925641] Chr3:13874986 [GRCh38]
Chr3:13916483 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.942C>T (p.Asn314=) single nucleotide variant not provided [RCV000926593] Chr3:13819052 [GRCh38]
Chr3:13860549 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.681G>A (p.Val227=) single nucleotide variant not provided [RCV000969454] Chr3:13819313 [GRCh38]
Chr3:13860810 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.60C>T (p.Tyr20=) single nucleotide variant not provided [RCV000969455] Chr3:13879757 [GRCh38]
Chr3:13921254 [GRCh37]
Chr3:3p25.1		 benign|likely benign
NM_004625.4(WNT7A):c.145C>A (p.Arg49=) single nucleotide variant not provided [RCV000899527] Chr3:13875100 [GRCh38]
Chr3:13916597 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.72-10C>T single nucleotide variant not provided [RCV000966850] Chr3:13875183 [GRCh38]
Chr3:13916680 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.1036T>C (p.Tyr346His) single nucleotide variant Inborn genetic diseases [RCV003271660] Chr3:13818958 [GRCh38]
Chr3:13860455 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.81C>T (p.Ser27=) single nucleotide variant not provided [RCV000892435] Chr3:13875164 [GRCh38]
Chr3:13916661 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.571-9C>G single nucleotide variant WNT7A-related disorder [RCV003943254]|not provided [RCV000976138] Chr3:13819432 [GRCh38]
Chr3:13860929 [GRCh37]
Chr3:3p25.1		 likely benign
NC_000003.12:g.13880229C>G single nucleotide variant not provided [RCV001550873] Chr3:13880229 [GRCh38]
Chr3:13921726 [GRCh37]
Chr3:3p25.1		 likely benign
NC_000003.12:g.13880272C>T single nucleotide variant not provided [RCV001575102] Chr3:13880272 [GRCh38]
Chr3:13921769 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.315G>A (p.Ala105=) single nucleotide variant not provided [RCV001688093] Chr3:13854787 [GRCh38]
Chr3:13896284 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.459T>C (p.Ser153=) single nucleotide variant not provided [RCV001713531] Chr3:13854643 [GRCh38]
Chr3:13896140 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.71+100A>C single nucleotide variant not provided [RCV001586815] Chr3:13879646 [GRCh38]
Chr3:13921143 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.71+230del deletion not provided [RCV001586954] Chr3:13879516 [GRCh38]
Chr3:13921013 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.298+24C>T single nucleotide variant not provided [RCV001589329] Chr3:13874923 [GRCh38]
Chr3:13916420 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.387C>T (p.Ser129=) single nucleotide variant not provided [RCV000907662] Chr3:13854715 [GRCh38]
Chr3:13896212 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.570+79G>A single nucleotide variant not provided [RCV001562538] Chr3:13854453 [GRCh38]
Chr3:13895950 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.72-302G>A single nucleotide variant not provided [RCV001658914] Chr3:13875475 [GRCh38]
Chr3:13916972 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.570+223A>G single nucleotide variant not provided [RCV001689262] Chr3:13854309 [GRCh38]
Chr3:13895806 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.71+211G>C single nucleotide variant not provided [RCV001592017] Chr3:13879535 [GRCh38]
Chr3:13921032 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.571-37T>C single nucleotide variant not provided [RCV001599053] Chr3:13819460 [GRCh38]
Chr3:13860957 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.298+40C>T single nucleotide variant not provided [RCV001574946] Chr3:13874907 [GRCh38]
Chr3:13916404 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.298+37C>A single nucleotide variant Fuhrmann syndrome [RCV002243435]|Schinzel phocomelia syndrome [RCV002243434]|not provided [RCV001710220] Chr3:13874910 [GRCh38]
Chr3:13916407 [GRCh37]
Chr3:3p25.1		 benign
NC_000003.12:g.13880162G>T single nucleotide variant not provided [RCV001695440] Chr3:13880162 [GRCh38]
Chr3:13921659 [GRCh37]
Chr3:3p25.1		 benign
NC_000003.12:g.13880326C>T single nucleotide variant not provided [RCV001610199] Chr3:13880326 [GRCh38]
Chr3:13921823 [GRCh37]
Chr3:3p25.1		 benign
NC_000003.12:g.13880086G>C single nucleotide variant not provided [RCV001565678] Chr3:13880086 [GRCh38]
Chr3:13921583 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.298+203_298+210dup duplication not provided [RCV001645297] Chr3:13874736..13874737 [GRCh38]
Chr3:13916233..13916234 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.*132C>T single nucleotide variant not provided [RCV001586175] Chr3:13818812 [GRCh38]
Chr3:13860309 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.-164C>A single nucleotide variant not provided [RCV001681563] Chr3:13879980 [GRCh38]
Chr3:13921477 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.-236G>A single nucleotide variant not provided [RCV001583993] Chr3:13880052 [GRCh38]
Chr3:13921549 [GRCh37]
Chr3:3p25.1		 likely benign
Single allele deletion 3p- syndrome [RCV002280352] Chr3:13371737..20095506 [GRCh38]
Chr3:3p25.1-24.3		 pathogenic
NM_004625.4(WNT7A):c.470G>A (p.Arg157His) single nucleotide variant Fuhrmann syndrome [RCV002272457]|not provided [RCV001357220] Chr3:13854632 [GRCh38]
Chr3:13896129 [GRCh37]
Chr3:3p25.1		 likely benign|uncertain significance
NC_000003.12:g.13880246G>T single nucleotide variant not provided [RCV001797399] Chr3:13880246 [GRCh38]
Chr3:13921743 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4:c.(71+1_72-1)_(298+1_299-1)del deletion Schinzel phocomelia syndrome [RCV001822985]   pathogenic
GRCh37/hg19 3p26.3-24.2(chr3:61891-24432821) copy number gain not specified [RCV002053299] Chr3:61891..24432821 [GRCh37]
Chr3:3p26.3-24.2		 pathogenic
GRCh37/hg19 3p26.3-22.2(chr3:61891-36710181) copy number gain not specified [RCV002053300] Chr3:61891..36710181 [GRCh37]
Chr3:3p26.3-22.2		 pathogenic
NM_004625.4(WNT7A):c.747C>A (p.Pro249=) single nucleotide variant not provided [RCV002124447] Chr3:13819247 [GRCh38]
Chr3:13860744 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.1029G>A (p.Thr343=) single nucleotide variant not provided [RCV002215370] Chr3:13818965 [GRCh38]
Chr3:13860462 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.777G>A (p.Ser259=) single nucleotide variant not provided [RCV002133411] Chr3:13819217 [GRCh38]
Chr3:13860714 [GRCh37]
Chr3:3p25.1		 benign
GRCh37/hg19 3p25.1-24.2(chr3:13836340-25357427)x3 copy number gain See cases [RCV002287839] Chr3:13836340..25357427 [GRCh37]
Chr3:3p25.1-24.2		 pathogenic
NC_000003.12:g.13880327C>T single nucleotide variant not provided [RCV002285773] Chr3:13880327 [GRCh38]
Chr3:13921824 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.99C>T (p.Gly33=) single nucleotide variant not provided [RCV002994765] Chr3:13875146 [GRCh38]
Chr3:13916643 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.919A>T (p.Met307Leu) single nucleotide variant Inborn genetic diseases [RCV002968310]|not provided [RCV003320927] Chr3:13819075 [GRCh38]
Chr3:13860572 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.556G>A (p.Glu186Lys) single nucleotide variant Inborn genetic diseases [RCV002883661] Chr3:13854546 [GRCh38]
Chr3:13896043 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.937T>C (p.Tyr313His) single nucleotide variant Inborn genetic diseases [RCV003348870]|not provided [RCV002621599] Chr3:13819057 [GRCh38]
Chr3:13860554 [GRCh37]
Chr3:3p25.1		 likely benign|uncertain significance
NM_004625.4(WNT7A):c.146G>A (p.Arg49Gln) single nucleotide variant Inborn genetic diseases [RCV002713544] Chr3:13875099 [GRCh38]
Chr3:13916596 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.469C>T (p.Arg157Cys) single nucleotide variant Inborn genetic diseases [RCV002874229] Chr3:13854633 [GRCh38]
Chr3:13896130 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.821C>G (p.Ser274Trp) single nucleotide variant Inborn genetic diseases [RCV002697263] Chr3:13819173 [GRCh38]
Chr3:13860670 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.811A>G (p.Ile271Val) single nucleotide variant Inborn genetic diseases [RCV002832180] Chr3:13819183 [GRCh38]
Chr3:13860680 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.331A>G (p.Ile111Val) single nucleotide variant Inborn genetic diseases [RCV002792881] Chr3:13854771 [GRCh38]
Chr3:13896268 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.390C>A (p.Asp130Glu) single nucleotide variant Inborn genetic diseases [RCV002832721] Chr3:13854712 [GRCh38]
Chr3:13896209 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.8G>A (p.Arg3Gln) single nucleotide variant Inborn genetic diseases [RCV002935997] Chr3:13879809 [GRCh38]
Chr3:13921306 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.25C>T (p.Leu9=) single nucleotide variant WNT7A-related disorder [RCV003943642]|not provided [RCV002943549] Chr3:13879792 [GRCh38]
Chr3:13921289 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.145C>T (p.Arg49Trp) single nucleotide variant not provided [RCV002608575] Chr3:13875100 [GRCh38]
Chr3:13916597 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.823C>T (p.Pro275Ser) single nucleotide variant Inborn genetic diseases [RCV003201189] Chr3:13819171 [GRCh38]
Chr3:13860668 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.884A>G (p.Asn295Ser) single nucleotide variant Inborn genetic diseases [RCV003185350] Chr3:13819110 [GRCh38]
Chr3:13860607 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.54G>A (p.Met18Ile) single nucleotide variant Inborn genetic diseases [RCV003178167] Chr3:13879763 [GRCh38]
Chr3:13921260 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.981G>C (p.Lys327Asn) single nucleotide variant Inborn genetic diseases [RCV003378937] Chr3:13819013 [GRCh38]
Chr3:13860510 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.531G>A (p.Arg177=) single nucleotide variant not provided [RCV003457371] Chr3:13854571 [GRCh38]
Chr3:13896068 [GRCh37]
Chr3:3p25.1		 likely benign
GRCh37/hg19 3p26.3-24.1(chr3:310747-28297447)x3 copy number gain not provided [RCV003484107] Chr3:310747..28297447 [GRCh37]
Chr3:3p26.3-24.1		 pathogenic
NM_004625.4(WNT7A):c.571-15C>T single nucleotide variant not provided [RCV003877509] Chr3:13819438 [GRCh38]
Chr3:13860935 [GRCh37]
Chr3:3p25.1		 benign
NM_004625.4(WNT7A):c.474C>T (p.Tyr158=) single nucleotide variant not provided [RCV003548422] Chr3:13854628 [GRCh38]
Chr3:13896125 [GRCh37]
Chr3:3p25.1		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:61891-33946644)x3 copy number gain not specified [RCV003986437] Chr3:61891..33946644 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_004625.4(WNT7A):c.408G>A (p.Glu136=) single nucleotide variant WNT7A-related disorder [RCV003951570] Chr3:13854694 [GRCh38]
Chr3:13896191 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.432C>T (p.Asp144=) single nucleotide variant WNT7A-related disorder [RCV003957416] Chr3:13854670 [GRCh38]
Chr3:13896167 [GRCh37]
Chr3:3p25.1		 likely benign
NM_004625.4(WNT7A):c.891G>A (p.Thr297=) single nucleotide variant WNT7A-related disorder [RCV003947285] Chr3:13819103 [GRCh38]
Chr3:13860600 [GRCh37]
Chr3:3p25.1		 likely benign
GRCh37/hg19 3p26.3-22.3(chr3:60000-34461438)x3 copy number gain not provided [RCV004577500] Chr3:60000..34461438 [GRCh37]
Chr3:3p26.3-22.3		 pathogenic
NM_004625.4(WNT7A):c.149C>T (p.Ala50Val) single nucleotide variant Inborn genetic diseases [RCV004483154] Chr3:13875096 [GRCh38]
Chr3:13916593 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.371C>T (p.Thr124Ile) single nucleotide variant Inborn genetic diseases [RCV004483155] Chr3:13854731 [GRCh38]
Chr3:13896228 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.827A>T (p.Asn276Ile) single nucleotide variant Inborn genetic diseases [RCV004483156] Chr3:13819167 [GRCh38]
Chr3:13860664 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.100G>A (p.Ala34Thr) single nucleotide variant Inborn genetic diseases [RCV004678583] Chr3:13875145 [GRCh38]
Chr3:13916642 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.889A>G (p.Thr297Ala) single nucleotide variant Inborn genetic diseases [RCV004678584] Chr3:13819105 [GRCh38]
Chr3:13860602 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.956C>T (p.Ala319Val) single nucleotide variant Inborn genetic diseases [RCV004678585] Chr3:13819038 [GRCh38]
Chr3:13860535 [GRCh37]
Chr3:3p25.1		 uncertain significance
G312S single nucleotide variant Santos syndrome [RCV004994508]   pathogenic
NM_004625.4(WNT7A):c.263G>C (p.Gly88Ala) single nucleotide variant Inborn genetic diseases [RCV004967517] Chr3:13874982 [GRCh38]
Chr3:13916479 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.622T>A (p.Ser208Thr) single nucleotide variant Inborn genetic diseases [RCV004967518] Chr3:13819372 [GRCh38]
Chr3:13860869 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.814G>T (p.Glu272Ter) single nucleotide variant Schinzel phocomelia syndrome [RCV004823302] Chr3:13819180 [GRCh38]
Chr3:13860677 [GRCh37]
Chr3:3p25.1		 pathogenic
NM_004625.4(WNT7A):c.806T>G (p.Val269Gly) single nucleotide variant not provided [RCV004820546] Chr3:13819188 [GRCh38]
Chr3:13860685 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.164G>A (p.Arg55Gln) single nucleotide variant Inborn genetic diseases [RCV004967515] Chr3:13875081 [GRCh38]
Chr3:13916578 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.79T>C (p.Ser27Pro) single nucleotide variant Inborn genetic diseases [RCV004967516] Chr3:13875166 [GRCh38]
Chr3:13916663 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.481G>A (p.Gly161Ser) single nucleotide variant Inborn genetic diseases [RCV004967519] Chr3:13854621 [GRCh38]
Chr3:13896118 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.367T>C (p.Cys123Arg) single nucleotide variant Inborn genetic diseases [RCV004967520] Chr3:13854735 [GRCh38]
Chr3:13896232 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.352G>A (p.Ala118Thr) single nucleotide variant WNT7A-related disoder [RCV005229637] Chr3:13854750 [GRCh38]
Chr3:13896247 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.998A>G (p.Tyr333Cys) single nucleotide variant not provided [RCV005177692] Chr3:13818996 [GRCh38]
Chr3:13860493 [GRCh37]
Chr3:3p25.1		 uncertain significance
NM_004625.4(WNT7A):c.531G>C (p.Arg177=) single nucleotide variant not provided [RCV005157254] Chr3:13854571 [GRCh38]
Chr3:13896068 [GRCh37]
Chr3:3p25.1		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:1608
Count of miRNA genes:901
Interacting mature miRNAs:1048
Transcripts:ENST00000285018, ENST00000489346, ENST00000497808
Prediction methods:Miranda, Rnahybrid
Result types:miRGate_prediction

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

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


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597060887GWAS1156961_Hvital capacity QTL GWAS1156961 (human)2e-12vital capacity31386657413866575Human
597061633GWAS1157707_HFEV/FVC ratio QTL GWAS1157707 (human)5e-17FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)31386657413866575Human
596962707GWAS1082226_HFEV/FVC ratio, irritable bowel syndrome QTL GWAS1082226 (human)3e-13FEV/FVC ratio, irritable bowel syndrome31387781213877813Human
597291678GWAS1387752_HFEV/FVC ratio, irritable bowel syndrome QTL GWAS1387752 (human)3e-13FEV/FVC ratio, irritable bowel syndromeforced expiratory volume to forced vital capacity ratio (CMO:0000241)31387781213877813Human
596962499GWAS1082018_Hirritable bowel syndrome, vital capacity QTL GWAS1082018 (human)5e-09irritable bowel syndrome, vital capacity31387797813877979Human
406978537GWAS627513_Hhematocrit QTL GWAS627513 (human)2e-09hematocrithematocrit (CMO:0000037)31384898813848989Human
597290865GWAS1386939_Hirritable bowel syndrome, vital capacity QTL GWAS1386939 (human)5e-09irritable bowel syndrome, vital capacity31387797813877979Human
2316345GLUCO224_HGlucose level QTL 224 (human)1.270.008Glucose level3121543441Human
407040701GWAS689677_Hinterleukin-6 measurement, chronic obstructive pulmonary disease QTL GWAS689677 (human)0.000009lung integrity trait (VT:0010906)blood interleukin-6 level (CMO:0001926)31381647213816473Human
597238070GWAS1334144_Hmuscle measurement QTL GWAS1334144 (human)0.0000001muscle measurementmuscle measurement (CMO:0001158)31382413413824135Human
597343589GWAS1439663_HFEV/FVC ratio QTL GWAS1439663 (human)1e-16FEV/FVC ratioforced expiratory volume to forced vital capacity ratio (CMO:0000241)31387909713879098Human

Markers in Region
D3S2385  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,878,967 - 13,879,111UniSTSGRCh37
Build 36313,853,968 - 13,854,112RGDNCBI36
Celera313,817,276 - 13,817,420RGD
Cytogenetic Map3p25UniSTS
HuRef313,812,619 - 13,812,767UniSTS
Marshfield Genetic Map338.54RGD
Marshfield Genetic Map338.54UniSTS
deCODE Assembly Map332.43UniSTS
Stanford-G3 RH Map3678.0UniSTS
SHGC-76734  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37313,860,180 - 13,860,320UniSTSGRCh37
Build 36313,835,181 - 13,835,321RGDNCBI36
Celera313,798,489 - 13,798,629RGD
Cytogenetic Map3p25UniSTS
HuRef313,793,833 - 13,793,973UniSTS
TNG Radiation Hybrid Map38173.0UniSTS
GeneMap99-GB4 RH Map358.35UniSTS
NCBI RH Map3179.9UniSTS


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
renal system
reproductive system
respiratory system
sensory system
visual system
837 1112 1660 963 4538 1024 1702 5 345 1239 228 1933 3865 3687 11 3290 670 1445 1233 133 1

Sequence


Ensembl Acc Id: ENST00000285018   ⟹   ENSP00000285018
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,816,258 - 13,880,071 (-)Ensembl
Ensembl Acc Id: ENST00000489346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,863,668 - 13,875,113 (-)Ensembl
Ensembl Acc Id: ENST00000497808
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl313,874,946 - 13,877,220 (-)Ensembl
RefSeq Acc Id: NM_004625   ⟹   NP_004616
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,816,258 - 13,880,071 (-)NCBI
GRCh37313,860,082 - 13,921,618 (-)ENTREZGENE
Build 36313,835,083 - 13,896,619 (-)NCBI Archive
HuRef313,793,735 - 13,855,835 (-)ENTREZGENE
CHM1_1313,810,090 - 13,871,973 (-)NCBI
T2T-CHM13v2.0313,816,895 - 13,880,668 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011534091   ⟹   XP_011532393
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,816,258 - 13,878,137 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047448863   ⟹   XP_047304819
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38313,816,258 - 13,879,561 (-)NCBI
RefSeq Acc Id: XM_054347759   ⟹   XP_054203734
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,816,895 - 13,878,734 (-)NCBI
RefSeq Acc Id: XM_054347760   ⟹   XP_054203735
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0313,816,895 - 13,880,158 (-)NCBI
RefSeq Acc Id: NP_004616   ⟸   NM_004625
- Peptide Label: precursor
- UniProtKB: Q96H90 (UniProtKB/Swiss-Prot),   Q9Y560 (UniProtKB/Swiss-Prot),   O00755 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: XP_011532393   ⟸   XM_011534091
- Peptide Label: isoform X1
- Sequence:
Ensembl Acc Id: ENSP00000285018   ⟸   ENST00000285018
RefSeq Acc Id: XP_047304819   ⟸   XM_047448863
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203735   ⟸   XM_054347760
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054203734   ⟸   XM_054347759
- Peptide Label: isoform X1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O00755-F1-model_v2 AlphaFold O00755 1-349 view protein structure

Promoters
RGD ID:6863650
Promoter ID:EPDNEW_H4990
Type:initiation region
Name:WNT7A_1
Description:Wnt family member 7A
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
GRCh38313,880,071 - 13,880,131EPDNEW
RGD ID:6801949
Promoter ID:HG_KWN:43853
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour
Transcripts:OTTHUMT00000252031
Position:
Human AssemblyChrPosition (strand)Source
Build 36313,896,366 - 13,897,217 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12786 AgrOrtholog
COSMIC WNT7A COSMIC
Ensembl Genes ENSG00000154764 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000285018 ENTREZGENE
  ENST00000285018.5 UniProtKB/Swiss-Prot
Gene3D-CATH 3.30.2460.20 UniProtKB/Swiss-Prot
GTEx ENSG00000154764 GTEx
HGNC ID HGNC:12786 ENTREZGENE
Human Proteome Map WNT7A Human Proteome Map
InterPro Wnt UniProtKB/Swiss-Prot
  Wnt7 UniProtKB/Swiss-Prot
  Wnt_C UniProtKB/Swiss-Prot
  Wnt_CS UniProtKB/Swiss-Prot
KEGG Report hsa:7476 UniProtKB/Swiss-Prot
NCBI Gene 7476 ENTREZGENE
OMIM 601570 OMIM
PANTHER PROTEIN WNT-7A UniProtKB/Swiss-Prot
  PTHR12027 UniProtKB/Swiss-Prot
Pfam wnt UniProtKB/Swiss-Prot
PharmGKB PA37387 PharmGKB
PRINTS WNT7PROTEIN UniProtKB/Swiss-Prot
  WNTPROTEIN UniProtKB/Swiss-Prot
PROSITE WNT1 UniProtKB/Swiss-Prot
SMART WNT1 UniProtKB/Swiss-Prot
UniProt O00755 ENTREZGENE
  Q96H90 ENTREZGENE
  Q9Y560 ENTREZGENE
  WNT7A_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q96H90 UniProtKB/Swiss-Prot
  Q9Y560 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 WNT7A  Wnt family member 7A  WNT7A  wingless-type MMTV integration site family member 7A  Symbol and/or name change 5135510 APPROVED
2015-11-24 WNT7A  wingless-type MMTV integration site family member 7A  WNT7A  wingless-type MMTV integration site family, member 7A  Symbol and/or name change 5135510 APPROVED