WNT7B (Wnt family member 7B) - Rat Genome Database

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Gene: WNT7B (Wnt family member 7B) Homo sapiens
Analyze
Symbol: WNT7B
Name: Wnt family member 7B
RGD ID: 1322906
HGNC Page HGNC:12787
Description: Enables receptor ligand activity. Involved in several processes, including canonical Wnt signaling pathway; cellular response to retinoic acid; and nervous system development. Predicted to be located in cell surface. Predicted to be active in extracellular space. Biomarker of breast cancer; breast fibroadenoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: protein Wnt-7b; wingless-type MMTV integration site family member 7B; wingless-type MMTV integration site family, member 7B
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
GRCh382245,920,366 - 45,977,162 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2245,920,366 - 45,977,162 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,316,246 - 46,373,042 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,696,316 - 44,751,395 (-)NCBINCBI36Build 36hg18NCBI36
Build 342244,638,195 - 44,666,564NCBI
Cytogenetic Map22q13.31NCBI
HuRef2229,261,652 - 29,291,436 (-)NCBIHuRef
CHM1_12246,275,362 - 46,332,075 (-)NCBICHM1_1
T2T-CHM13v2.02246,405,017 - 46,461,763 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2-palmitoylglycerol  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
aldehydo-D-glucose  (ISO)
all-trans-retinoic acid  (ISO)
alpha-Zearalanol  (ISO)
arsenite(3-)  (ISO)
atrazine  (ISO)
Azoxymethane  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (ISO)
bisphenol F  (ISO)
cadmium dichloride  (EXP,ISO)
calcitriol  (EXP)
cannabidiol  (ISO)
celastrol  (ISO)
choline  (ISO)
cisplatin  (EXP)
clothianidin  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
Cuprizon  (ISO)
D-glucose  (ISO)
dextran sulfate  (ISO)
diazinon  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (EXP)
ethylbenzene  (EXP)
ethylparaben  (EXP)
fipronil  (EXP)
folic acid  (ISO)
formaldehyde  (EXP)
fucoxanthin  (ISO)
glucose  (ISO)
glycidol  (ISO)
L-methionine  (ISO)
Lasiocarpine  (EXP)
lipopolysaccharide  (EXP)
maneb  (ISO)
manganese(II) chloride  (ISO)
methapyrilene  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
N-Nitrosopyrrolidine  (EXP)
nicotine  (EXP)
nitrofen  (ISO)
O-methyleugenol  (EXP)
ochratoxin A  (EXP)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
perfluorohexanesulfonic acid  (ISO)
perfluorooctanoic acid  (ISO)
propanal  (EXP)
retinyl acetate  (ISO)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (ISO)
sotorasib  (EXP)
temozolomide  (EXP)
testosterone  (EXP)
thiram  (EXP)
titanium dioxide  (ISO)
toluene  (EXP)
trametinib  (EXP)
trichostatin A  (EXP)
triptonide  (ISO)
tris(2-butoxyethyl) phosphate  (EXP)
uranium atom  (EXP)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
anatomical structure regression  (ISO)
angiogenesis  (ISO)
animal organ development  (IEA)
apoptotic process involved in blood vessel morphogenesis  (ISO)
canonical Wnt signaling pathway  (IBA,IDA,ISO,ISS)
cell differentiation  (IEA)
cell fate commitment  (IBA)
cell population proliferation  (ISO)
cell proliferation in forebrain  (ISO)
cellular response to retinoic acid  (IEP)
central nervous system vasculogenesis  (ISO,ISS)
chemoattraction of dopaminergic neuron axon  (ISS)
chorio-allantoic fusion  (ISO,ISS)
developmental growth involved in morphogenesis  (ISO,ISS)
embryonic organ development  (ISO,ISS)
embryonic placenta morphogenesis  (ISO,ISS)
establishment or maintenance of polarity of embryonic epithelium  (ISO,ISS)
fibroblast proliferation  (IEP)
forebrain regionalization  (IEP)
homeostatic process  (ISO,ISS)
in utero embryonic development  (ISO,ISS)
inner medullary collecting duct development  (ISO,ISS)
intracellular oxygen homeostasis  (ISO,ISS)
lens fiber cell development  (ISS)
lobar bronchus development  (ISO,ISS)
lung development  (ISO,ISS)
lung epithelium development  (ISO,ISS)
lung morphogenesis  (ISO,ISS)
lung-associated mesenchyme development  (ISO)
mammary gland epithelium development  (IEP)
metanephric collecting duct development  (ISO,ISS)
metanephric epithelium development  (ISO,ISS)
metanephric loop of Henle development  (ISO,ISS)
metanephros morphogenesis  (ISO,ISS)
negative regulation of neurogenesis  (ISO)
negative regulation of smoothened signaling pathway  (ISO)
neuron differentiation  (IBA,IEP)
neuron projection development  (IEA,ISO)
neuron projection morphogenesis  (IEA,ISO)
odontogenesis of dentin-containing tooth  (ISO)
osteoblast differentiation  (ISO)
outer medullary collecting duct development  (ISO,ISS)
positive regulation of cell population proliferation  (ISO)
positive regulation of gene expression  (ISO)
positive regulation of JNK cascade  (IBA,IEA,ISO)
positive regulation of osteoblast differentiation  (ISO,ISS)
regulation of cell projection size  (IEA,ISO)
renal inner medulla development  (ISO,ISS)
renal outer medulla development  (ISO,ISS)
response to glucocorticoid  (IEA,ISO)
smooth muscle cell differentiation  (ISO)
stem cell development  (ISO)
stem cell proliferation  (IEP)
synapse organization  (ISO,ISS)
system development  (IEA)
tissue development  (IEA)
trachea cartilage morphogenesis  (ISO,ISS)
vasculature development  (ISO)
Wnt signaling pathway  (IEA,ISO,ISS)
Wnt signaling pathway, planar cell polarity pathway  (ISS)

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. The p53 transcriptional target gene wnt7b contributes to NGF-inducible neurite outgrowth in neuronal PC12 cells. Brynczka C and Merrick BA, Differentiation. 2008 Jan 2;.
2. High expression of Wnt7b in human superficial bladder cancer vs invasive bladder cancer. Bui TD, etal., Br J Cancer. 1998;77(2):319-24.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Differential expression of human Wnt genes 2, 3, 4, and 7B in human breast cell lines and normal and disease states of human breast tissue. Huguet EL, etal., Cancer Res. 1994 May 15;54(10):2615-21.
5. 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.
6. Expression of Wnt genes and frizzled 1 and 2 receptors in normal breast epithelium and infiltrating breast carcinoma. Milovanovic T, etal., Int J Oncol. 2004 Nov;25(5):1337-42.
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
9. The Wnt Homepage Roel Nusse - Howard Hughes Medical Institute and the Department of Developmental Biology at Stanford University, California, USA
10. Wnt signaling through Dishevelled, Rac and JNK regulates dendritic development. Rosso SB, etal., Nat Neurosci. 2005 Jan;8(1):34-42. Epub 2004 Dec 19.
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. Wnt7b activates canonical signaling in epithelial and vascular smooth muscle cells through interactions with Fzd1, Fzd10, and LRP5. Wang Z, etal., Mol Cell Biol. 2005 Jun;25(12):5022-30.
14. 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:8889548   PMID:9284940   PMID:10866835   PMID:11562755   PMID:12239632   PMID:12429992   PMID:12477932   PMID:14702039   PMID:15164427   PMID:15489334   PMID:16227623  
PMID:16258938   PMID:17207965   PMID:19734317   PMID:19863181   PMID:20634891   PMID:21732829   PMID:21873635   PMID:21988832   PMID:22838404   PMID:22949635   PMID:23386686   PMID:23416978  
PMID:24638982   PMID:25823570   PMID:26186194   PMID:26538547   PMID:26548512   PMID:28171582   PMID:28514442   PMID:28611215   PMID:28733458   PMID:29117863   PMID:29681511   PMID:29847655  
PMID:30026314   PMID:30971692   PMID:31089877   PMID:31304776   PMID:31601147   PMID:31741433   PMID:31962011   PMID:32346881   PMID:32761137   PMID:32843620   PMID:33125912   PMID:33234148  
PMID:33432928   PMID:33526767   PMID:33607955   PMID:33934523   PMID:33961781   PMID:34562599   PMID:34573275   PMID:34999254   PMID:35748872   PMID:35790350   PMID:36472725   PMID:36517590  
PMID:38417950   PMID:38734188  


Genomics

Comparative Map Data
WNT7B
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh382245,920,366 - 45,977,162 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl2245,920,366 - 45,977,162 (-)EnsemblGRCh38hg38GRCh38
GRCh372246,316,246 - 46,373,042 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 362244,696,316 - 44,751,395 (-)NCBINCBI36Build 36hg18NCBI36
Build 342244,638,195 - 44,666,564NCBI
Cytogenetic Map22q13.31NCBI
HuRef2229,261,652 - 29,291,436 (-)NCBIHuRef
CHM1_12246,275,362 - 46,332,075 (-)NCBICHM1_1
T2T-CHM13v2.02246,405,017 - 46,461,763 (-)NCBIT2T-CHM13v2.0
Wnt7b
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391585,419,638 - 85,466,022 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1585,419,638 - 85,466,674 (-)EnsemblGRCm39 Ensembl
GRCm381585,535,437 - 85,581,821 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1585,535,437 - 85,582,473 (-)EnsemblGRCm38mm10GRCm38
MGSCv371585,365,867 - 85,412,251 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361585,363,207 - 85,409,348 (-)NCBIMGSCv36mm8
Celera1587,665,622 - 87,712,020 (-)NCBICelera
Cytogenetic Map15E2NCBI
cM Map1540.39NCBI
Wnt7b
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr87118,514,684 - 118,559,316 (-)NCBIGRCr8
mRatBN7.27116,634,817 - 116,679,459 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl7116,634,814 - 116,679,581 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx7118,387,429 - 118,429,756 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.07120,613,164 - 120,655,493 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.07120,582,608 - 120,624,937 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.07126,423,418 - 126,465,724 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl7126,420,656 - 126,465,723 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.07126,136,632 - 126,178,957 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.47123,533,713 - 123,554,333 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.17123,567,943 - 123,588,563 (-)NCBI
Celera7112,932,206 - 112,952,808 (-)NCBICelera
Cytogenetic Map7q34NCBI
Wnt7b
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541330,144,869 - 30,181,791 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541330,146,185 - 30,185,693 (-)NCBIChiLan1.0ChiLan1.0
WNT7B
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v22355,751,220 - 55,807,107 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan12258,449,387 - 58,504,009 (-)NCBINHGRI_mPanPan1
PanPan1.12244,988,647 - 45,039,601 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl2244,988,647 - 45,044,841 (-)Ensemblpanpan1.1panPan2
WNT7B
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11020,160,916 - 20,208,786 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1020,160,206 - 20,243,160 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1020,083,094 - 20,132,215 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01020,894,626 - 20,943,739 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1020,894,149 - 20,976,956 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11020,614,947 - 20,664,056 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01020,927,809 - 20,976,907 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01021,108,730 - 21,157,847 (+)NCBIUU_Cfam_GSD_1.0
Wnt7b
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244049453,869,498 - 3,909,805 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049366293,869,523 - 3,909,808 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049366293,869,976 - 3,907,932 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
WNT7B
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl53,521,288 - 3,572,314 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.153,521,412 - 3,572,322 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.25654,961 - 707,041 (-)NCBISscrofa10.2Sscrofa10.2susScr3
WNT7B
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11928,387,324 - 28,444,019 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1928,385,422 - 28,441,350 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604596,912,041 - 96,943,508 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Wnt7b
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247523,818,025 - 3,857,027 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247523,818,073 - 3,856,602 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in WNT7B
38 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 22q13.31-13.33(chr22:45239376-50739836)x1 copy number loss See cases [RCV000050935] Chr22:45239376..50739836 [GRCh38]
Chr22:45635257..51178264 [GRCh37]
Chr22:44013921..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42138114-50739836)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051370]|See cases [RCV000051370] Chr22:42138114..50739836 [GRCh38]
Chr22:42513525..51178264 [GRCh37]
Chr22:40843471..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42433752-50738932)x1 copy number loss See cases [RCV000051371] Chr22:42433752..50738932 [GRCh38]
Chr22:42829758..51177360 [GRCh37]
Chr22:41159702..49524226 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42826246-50739836)x1 copy number loss See cases [RCV000051407] Chr22:42826246..50739836 [GRCh38]
Chr22:43222252..51178264 [GRCh37]
Chr22:41552196..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43807366-50739836)x1 copy number loss See cases [RCV000051408] Chr22:43807366..50739836 [GRCh38]
Chr22:44203246..51178264 [GRCh37]
Chr22:42534579..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43993654-50739977)x1 copy number loss See cases [RCV000051409] Chr22:43993654..50739977 [GRCh38]
Chr22:44389534..51178405 [GRCh37]
Chr22:42720867..49525271 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44740175-50739836)x1 copy number loss See cases [RCV000051410] Chr22:44740175..50739836 [GRCh38]
Chr22:45136055..51178264 [GRCh37]
Chr22:43514719..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:45648256-50739836)x1 copy number loss See cases [RCV000051411] Chr22:45648256..50739836 [GRCh38]
Chr22:46044136..51178264 [GRCh37]
Chr22:44422800..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3 copy number gain See cases [RCV000051684] Chr22:37061769..50738932 [GRCh38]
Chr22:37457809..51177360 [GRCh37]
Chr22:35787755..49524226 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42599757-50725241)x3 copy number gain See cases [RCV000051686] Chr22:42599757..50725241 [GRCh38]
Chr22:42995763..51163669 [GRCh37]
Chr22:41325707..49510535 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42653747-50739836)x3 copy number gain See cases [RCV000051687] Chr22:42653747..50739836 [GRCh38]
Chr22:43049753..51178264 [GRCh37]
Chr22:41379697..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44700812-50739836)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051688]|See cases [RCV000051688] Chr22:44700812..50739836 [GRCh38]
Chr22:45096692..51178264 [GRCh37]
Chr22:43475356..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44811200-50739836)x3 copy number gain See cases [RCV000051689] Chr22:44811200..50739836 [GRCh38]
Chr22:45207080..51178264 [GRCh37]
Chr22:43585744..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q12.3-13.33(chr22:33768441-50739977)x3 copy number gain See cases [RCV000051682] Chr22:33768441..50739977 [GRCh38]
Chr22:34164428..51178405 [GRCh37]
Chr22:32494428..49525271 [NCBI36]
Chr22:22q12.3-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45954698-47245325)x3 copy number gain See cases [RCV000052891] Chr22:45954698..47245325 [GRCh38]
Chr22:46350578..47641075 [GRCh37]
Chr22:44729242..46019739 [NCBI36]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.225C>G (p.Tyr75Ter) single nucleotide variant Matthew-Wood syndrome [RCV001728159] Chr22:45949993 [GRCh38]
Chr22:46345873 [GRCh37]
Chr22:22q13.31		 pathogenic
Single allele deletion Intellectual disability [RCV001293376] Chr22:42333802..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_058238.3(WNT7B):c.562G>A (p.Gly188Ser) single nucleotide variant Matthew-Wood syndrome [RCV001728160] Chr22:45931106 [GRCh38]
Chr22:46326986 [GRCh37]
Chr22:22q13.31		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3 copy number gain See cases [RCV000133646] Chr22:16916608..50739836 [GRCh38]
Chr22:17397498..51178264 [GRCh37]
Chr22:15777498..49525130 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44606363-50739836)x1 copy number loss See cases [RCV000133865] Chr22:44606363..50739836 [GRCh38]
Chr22:45002243..51178264 [GRCh37]
Chr22:43380907..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3 copy number gain See cases [RCV000134730] Chr22:16916743..50739785 [GRCh38]
Chr22:17397633..51178213 [GRCh37]
Chr22:15777633..49525079 [NCBI36]
Chr22:22q11.1-13.33		 pathogenic
GRCh38/hg38 22q13.1-13.33(chr22:40202014-50735806)x3 copy number gain See cases [RCV000134513] Chr22:40202014..50735806 [GRCh38]
Chr22:40598018..51174234 [GRCh37]
Chr22:38927964..49521100 [NCBI36]
Chr22:22q13.1-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43902561-50739836)x1 copy number loss See cases [RCV000135444] Chr22:43902561..50739836 [GRCh38]
Chr22:44298441..51178264 [GRCh37]
Chr22:42629774..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.31(chr22:42197923-47305564)x4 copy number gain See cases [RCV000135528] Chr22:42197923..47305564 [GRCh38]
Chr22:42593929..47701314 [GRCh37]
Chr22:40923873..46079978 [NCBI36]
Chr22:22q13.2-13.31		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44797239-50739836)x3 copy number gain See cases [RCV000136573] Chr22:44797239..50739836 [GRCh38]
Chr22:45193119..51178264 [GRCh37]
Chr22:43571783..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:43992879-50683114)x3 copy number gain See cases [RCV000136124] Chr22:43992879..50683114 [GRCh38]
Chr22:44388759..51121542 [GRCh37]
Chr22:42720092..49468408 [NCBI36]
Chr22:22q13.31-13.33		 benign
GRCh38/hg38 22q13.2-13.33(chr22:41871143-50739836)x1 copy number loss See cases [RCV000136921] Chr22:41871143..50739836 [GRCh38]
Chr22:42267147..51178264 [GRCh37]
Chr22:40597093..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42710276-50739836)x3 copy number gain See cases [RCV000137136] Chr22:42710276..50739836 [GRCh38]
Chr22:43106282..51178264 [GRCh37]
Chr22:41436226..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44764289-50739836)x1 copy number loss See cases [RCV000136894] Chr22:44764289..50739836 [GRCh38]
Chr22:45160169..51178264 [GRCh37]
Chr22:43538833..49525130 [NCBI36]
Chr22:22q13.31-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42493445-50268479)x1 copy number loss See cases [RCV000136786] Chr22:42493445..50268479 [GRCh38]
Chr22:42889451..50706908 [GRCh37]
Chr22:41219395..49049035 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1 copy number loss See cases [RCV000138217] Chr22:45445795..47832195 [GRCh38]
Chr22:45841676..48227944 [GRCh37]
Chr22:44220340..46606608 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh38/hg38 22q13.2-13.33(chr22:42837094-50735806)x1 copy number loss See cases [RCV000141415] Chr22:42837094..50735806 [GRCh38]
Chr22:43233100..51174234 [GRCh37]
Chr22:41563044..49521100 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:43187980-50745444)x1 copy number loss See cases [RCV000140901] Chr22:43187980..50745444 [GRCh38]
Chr22:43583986..51183872 [GRCh37]
Chr22:41913930..49530738 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42380961-50759410)x3 copy number gain See cases [RCV000141659] Chr22:42380961..50759410 [GRCh38]
Chr22:42776967..51197838 [GRCh37]
Chr22:41106911..49544704 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.2-13.33(chr22:42080077-50739836)x3 copy number gain See cases [RCV000142755] Chr22:42080077..50739836 [GRCh38]
Chr22:42476081..51178264 [GRCh37]
Chr22:40806027..49525130 [NCBI36]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31(chr22:44832749-46353315)x3 copy number gain See cases [RCV000143486] Chr22:44832749..46353315 [GRCh38]
Chr22:45228629..46749212 [GRCh37]
Chr22:43607293..45127876 [NCBI36]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.31-13.33(chr22:46316673-50357320)x1 copy number loss See cases [RCV000239941] Chr22:46316673..50357320 [GRCh37]
Chr22:22q13.31-13.33		 likely pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3 copy number gain See cases [RCV000240091] Chr22:16054691..51237518 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3 copy number gain See cases [RCV000240469] Chr22:35728929..51220961 [GRCh37]
Chr22:22q12.3-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40425714-51220961)x3 copy number gain See cases [RCV000240459] Chr22:40425714..51220961 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3 copy number gain See cases [RCV000446956] Chr22:16054691..51220902 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:45769244-46630634)x1 copy number loss See cases [RCV000446891] Chr22:45769244..46630634 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3 copy number gain See cases [RCV000448847] Chr22:16054691..51237463 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43381459-51197838)x1 copy number loss See cases [RCV000512121] Chr22:43381459..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45261208-51197838)x1 copy number loss See cases [RCV000511220] Chr22:45261208..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43050743-51197838)x1 copy number loss See cases [RCV000511256] Chr22:43050743..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42441918-51197838)x1 copy number loss See cases [RCV000510765] Chr22:42441918..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838) copy number gain See cases [RCV000510873] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43875989-51197838)x1 copy number loss See cases [RCV000511015] Chr22:43875989..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31(chr22:46189128-46998144)x3 copy number gain See cases [RCV000512253] Chr22:46189128..46998144 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3 copy number gain See cases [RCV000512333] Chr22:16888900..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45994305-51183840)x1 copy number loss not provided [RCV000684525] Chr22:45994305..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44789956-51183840)x1 copy number loss not provided [RCV000684526] Chr22:44789956..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43320284-51183840)x1 copy number loss not provided [RCV000684527] Chr22:43320284..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43111156-51183840)x1 copy number loss not provided [RCV000684528] Chr22:43111156..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42955616-51183840)x1 copy number loss not provided [RCV000684529] Chr22:42955616..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_058238.3(WNT7B):c.739C>T (p.Arg247Trp) single nucleotide variant Anophthalmia-microphthalmia syndrome [RCV000754650] Chr22:45923167 [GRCh38]
Chr22:46319047 [GRCh37]
Chr22:22q13.31		 likely pathogenic
NM_058238.3(WNT7B):c.292C>T (p.Arg98Ter) single nucleotide variant Matthew-Wood syndrome [RCV000754651]|See cases [RCV003313088] Chr22:45949926 [GRCh38]
Chr22:46345806 [GRCh37]
Chr22:22q13.31		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16054667-51243435)x3 copy number gain not provided [RCV000741689] Chr22:16054667..51243435 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51195728)x3 copy number gain not provided [RCV000741691] Chr22:16114244..51195728 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42151555-51195728)x1 copy number loss not provided [RCV000741989] Chr22:42151555..51195728 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16114244-51211392)x3 copy number gain not provided [RCV000741692] Chr22:16114244..51211392 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.1-13.33(chr22:40502364-51197838)x3 copy number gain not provided [RCV001007502] Chr22:40502364..51197838 [GRCh37]
Chr22:22q13.1-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45075720-51181759) copy number loss not provided [RCV000767746] Chr22:45075720..51181759 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_058238.3(WNT7B):c.750C>A (p.Thr250=) single nucleotide variant not provided [RCV000968428] Chr22:45923156 [GRCh38]
Chr22:46319036 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q13.2-13.33(chr22:42416026-51181759) copy number loss Phelan-McDermid syndrome [RCV000767745] Chr22:42416026..51181759 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
Single allele copy number loss 22q13.3 interstitial deletion [RCV001200047] Chr22:44850001..50850001 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3 copy number gain not provided [RCV000846344] Chr22:16888899..51197838 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
NM_058238.3(WNT7B):c.903G>A (p.Ala301=) single nucleotide variant not provided [RCV000902455] Chr22:45923003 [GRCh38]
Chr22:46318883 [GRCh37]
Chr22:22q13.31		 benign
GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3 copy number gain not provided [RCV001007181] Chr22:30654764..51197838 [GRCh37]
Chr22:22q12.2-13.33		 pathogenic
NM_058238.3(WNT7B):c.87G>T (p.Val29=) single nucleotide variant not provided [RCV000934033] Chr22:45950131 [GRCh38]
Chr22:46346011 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.2-13.33(chr22:43436847-51188164)x3 copy number gain not provided [RCV002468433] Chr22:43436847..51188164 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977448-51197838)x1 copy number loss not provided [RCV002472642] Chr22:45977448..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45889148-51197838)x1 copy number loss not provided [RCV002473520] Chr22:45889148..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:44390702-51137629)x1 copy number loss not provided [RCV002473583] Chr22:44390702..51137629 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43802117_50806121del deletion Phelan-McDermid syndrome [RCV001254364] Chr22:43802117..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45819932_50737806del deletion Phelan-McDermid syndrome [RCV001254366] Chr22:45819932..50737806 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.45708330_50737364del deletion Phelan-McDermid syndrome [RCV001254359] Chr22:45708330..50737364 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.43032129_50739836del deletion Phelan-McDermid syndrome [RCV001254356] Chr22:43032129..50739836 [GRCh38]
Chr22:22q13.2-13.33		 pathogenic
NC_000022.11:g.44245760_50806121del deletion Phelan-McDermid syndrome [RCV001254369] Chr22:44245760..50806121 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
NC_000022.11:g.44702479_50806138del deletion Phelan-McDermid syndrome [RCV001254370] Chr22:44702479..50806138 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3 copy number gain See cases [RCV001263056] Chr22:16197005..51224252 [GRCh37]
Chr22:22q11.1-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42321321-51244066)x1 copy number loss Phelan-McDermid syndrome [RCV001801178] Chr22:42321321..51244066 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:42972719-51197838) copy number loss not specified [RCV002052757] Chr22:42972719..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43451316-46662660) copy number loss not specified [RCV002052758] Chr22:43451316..46662660 [GRCh37]
Chr22:22q13.2-13.31		 pathogenic
NM_058238.3(WNT7B):c.584G>A (p.Arg195Gln) single nucleotide variant not specified [RCV004202630] Chr22:45923322 [GRCh38]
Chr22:46319202 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:44178749-51183840)x1 copy number loss not provided [RCV002472623] Chr22:44178749..51183840 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45977415-51183840)x1 copy number loss not provided [RCV002472654] Chr22:45977415..51183840 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_058238.3(WNT7B):c.338C>T (p.Ala113Val) single nucleotide variant not specified [RCV004140428] Chr22:45931330 [GRCh38]
Chr22:46327210 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.163C>T (p.Arg55Trp) single nucleotide variant not specified [RCV004131040] Chr22:45950055 [GRCh38]
Chr22:46345935 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.491G>A (p.Arg164Gln) single nucleotide variant not specified [RCV004120873] Chr22:45931177 [GRCh38]
Chr22:46327057 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.431C>A (p.Ala144Asp) single nucleotide variant not specified [RCV004181743] Chr22:45931237 [GRCh38]
Chr22:46327117 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.845C>T (p.Ala282Val) single nucleotide variant not specified [RCV004127445] Chr22:45923061 [GRCh38]
Chr22:46318941 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.394G>A (p.Gly132Ser) single nucleotide variant not specified [RCV004603380] Chr22:45931274 [GRCh38]
Chr22:46327154 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.773G>A (p.Arg258His) single nucleotide variant not specified [RCV004195686] Chr22:45923133 [GRCh38]
Chr22:46319013 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.869A>G (p.Gln290Arg) single nucleotide variant not specified [RCV004268246] Chr22:45923037 [GRCh38]
Chr22:46318917 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.902C>T (p.Ala301Val) single nucleotide variant not specified [RCV004248004] Chr22:45923004 [GRCh38]
Chr22:46318884 [GRCh37]
Chr22:22q13.31		 uncertain significance
GRCh37/hg19 22q13.2-13.33(chr22:43820992-51218654)x1 copy number loss not provided [RCV003457366] Chr22:43820992..51218654 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh37/hg19 22q13.31-13.33(chr22:45657164-51197838)x3 copy number gain not provided [RCV003485247] Chr22:45657164..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_058238.3(WNT7B):c.360C>T (p.Thr120=) single nucleotide variant not provided [RCV003433293] Chr22:45931308 [GRCh38]
Chr22:46327188 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:45611226-51197838)x1 copy number loss not provided [RCV003483399] Chr22:45611226..51197838 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
NM_058238.3(WNT7B):c.36G>A (p.Val12=) single nucleotide variant not provided [RCV003433294] Chr22:45976719 [GRCh38]
Chr22:46372599 [GRCh37]
Chr22:22q13.31		 likely benign
NM_058238.3(WNT7B):c.261C>T (p.Leu87=) single nucleotide variant not provided [RCV003437649] Chr22:45949957 [GRCh38]
Chr22:46345837 [GRCh37]
Chr22:22q13.31		 likely benign
GRCh37/hg19 22q13.31-13.33(chr22:44502872-51183871)x1 copy number loss not specified [RCV003986171] Chr22:44502872..51183871 [GRCh37]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:43107363-51156692)x1 copy number loss not specified [RCV003986180] Chr22:43107363..51156692 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
GRCh38/hg38 22q13.31-13.33(chr22:44549957-50789329) copy number loss Phelan-McDermid syndrome [RCV003986080] Chr22:44549957..50789329 [GRCh38]
Chr22:22q13.31-13.33		 pathogenic
GRCh37/hg19 22q13.2-13.31(chr22:43920110-46548382)x1 copy number loss not specified [RCV003986192] Chr22:43920110..46548382 [GRCh37]
Chr22:22q13.2-13.31		 likely pathogenic
GRCh37/hg19 22q13.2-13.33(chr22:44034281-51197838)x1 copy number loss not specified [RCV003986178] Chr22:44034281..51197838 [GRCh37]
Chr22:22q13.2-13.33		 pathogenic
NM_058238.3(WNT7B):c.1030G>A (p.Glu344Lys) single nucleotide variant not specified [RCV004483157] Chr22:45922876 [GRCh38]
Chr22:46318756 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.228G>C (p.Gln76His) single nucleotide variant not specified [RCV004483158] Chr22:45949990 [GRCh38]
Chr22:46345870 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.45C>G (p.Cys15Trp) single nucleotide variant not specified [RCV004483159] Chr22:45976710 [GRCh38]
Chr22:46372590 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.538A>C (p.Met180Leu) single nucleotide variant not specified [RCV004483160] Chr22:45931130 [GRCh38]
Chr22:46327010 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.859G>A (p.Val287Met) single nucleotide variant not specified [RCV004483161] Chr22:45923047 [GRCh38]
Chr22:46318927 [GRCh37]
Chr22:22q13.31		 uncertain significance
NM_058238.3(WNT7B):c.907G>A (p.Gly303Ser) single nucleotide variant not specified [RCV004483162] Chr22:45922999 [GRCh38]
Chr22:46318879 [GRCh37]
Chr22:22q13.31		 uncertain significance
NC_000022.10:g.(?_45958792)_(46971995_?)del deletion not provided [RCV004579284] Chr22:45958792..46971995 [GRCh37]
Chr22:22q13.31		 pathogenic
NM_058238.3(WNT7B):c.844G>A (p.Ala282Thr) single nucleotide variant not specified [RCV004678586] Chr22:45923062 [GRCh38]
Chr22:46318942 [GRCh37]
Chr22:22q13.31		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3158
Count of miRNA genes:933
Interacting mature miRNAs:1150
Transcripts:ENST00000339464, ENST00000409496, ENST00000410058, ENST00000410089, ENST00000428540
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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
406948160GWAS597136_Hhematocrit QTL GWAS597136 (human)8e-62hematocrithematocrit (CMO:0000037)224596831145968312Human
596956566GWAS1076085_Hpancreas volume QTL GWAS1076085 (human)1e-09pancreas size trait (VT:0003450)224596828145968282Human
596952464GWAS1071983_Hsize QTL GWAS1071983 (human)1e-08size224596828145968282Human
597113360GWAS1209434_Herythrocyte count QTL GWAS1209434 (human)2e-33erythrocyte countred blood cell count (CMO:0000025)224596831145968312Human
597292048GWAS1388122_HProgressive visual loss QTL GWAS1388122 (human)8e-28Progressive visual loss224596828145968282Human
406978378GWAS627354_Hhemoglobin measurement QTL GWAS627354 (human)1e-53hemoglobin measurementhemoglobin measurement (CMO:0000508)224596828145968282Human
597034523GWAS1130597_Hheel bone mineral density QTL GWAS1130597 (human)1e-13heel bone mineral densitybone mineral density (CMO:0001226)224596925745969258Human
597614858GWAS1671718_HPeyronie disease QTL GWAS1671718 (human)3e-26Peyronie disease224597126445971265Human
597589641GWAS1646501_HFasciitis QTL GWAS1646501 (human)2e-102Fasciitis224597126445971265Human
597614982GWAS1671842_Hmale reproductive system disease QTL GWAS1671842 (human)6e-14male reproductive system disease224596651645966517Human
596956046GWAS1075565_HProgressive visual loss QTL GWAS1075565 (human)8e-28Progressive visual loss224596828145968282Human
597588483GWAS1645343_Hhematocrit QTL GWAS1645343 (human)3e-26hematocrithematocrit (CMO:0000037)224597519945975200Human
597229703GWAS1325777_Happendicular lean mass QTL GWAS1325777 (human)7e-15appendicular lean mass224596828145968282Human
596976651GWAS1096170_Hbody height QTL GWAS1096170 (human)1e-11body height (VT:0001253)body height (CMO:0000106)224597126445971265Human
597024906GWAS1120980_Herythrocyte count QTL GWAS1120980 (human)3e-16erythrocyte countred blood cell count (CMO:0000025)224596828145968282Human
597182523GWAS1278597_Hhemoglobin measurement QTL GWAS1278597 (human)2e-17hemoglobin measurementhemoglobin measurement (CMO:0000508)224596828145968282Human
407039719GWAS688695_Hcorneal topography QTL GWAS688695 (human)3e-40corneal topography224596785945967860Human
597589563GWAS1646423_HDupuytren Contracture QTL GWAS1646423 (human)1e-323Dupuytren Contracture224597028545970286Human
406946276GWAS595252_Hhemoglobin measurement QTL GWAS595252 (human)1e-49hemoglobin measurementhemoglobin measurement (CMO:0000508)224597519945975200Human
597055408GWAS1151482_Hrosacea severity measurement QTL GWAS1151482 (human)0.000008rosacea severity measurement224593757445937575Human
597350716GWAS1446790_Hbody height QTL GWAS1446790 (human)3e-32body height (VT:0001253)body height (CMO:0000106)224597028545970286Human
406967913GWAS616889_Hcentral corneal thickness QTL GWAS616889 (human)6e-09central corneal thickness224596785945967860Human
597617847GWAS1674707_HMyopia QTL GWAS1674707 (human)1e-17Myopia224596967745969678Human
597047485GWAS1143559_HC-reactive protein measurement QTL GWAS1143559 (human)4e-08C-reactive protein measurementblood C-reactive protein level (CMO:0003160)224596785945967860Human
597231538GWAS1327612_Hheel bone mineral density QTL GWAS1327612 (human)4e-13heel bone mineral densitybone mineral density (CMO:0001226)224596925745969258Human
597280181GWAS1376255_Hhemoglobin measurement QTL GWAS1376255 (human)2e-45hemoglobin measurementhemoglobin measurement (CMO:0000508)224596828145968282Human
597578545GWAS1635405_Hhemoglobin measurement QTL GWAS1635405 (human)2e-23hemoglobin measurementhemoglobin measurement (CMO:0000508)224597708845977089Human
597290410GWAS1386484_Hsize QTL GWAS1386484 (human)1e-08size224596828145968282Human
406983543GWAS632519_Hhemoglobin measurement QTL GWAS632519 (human)2e-37hemoglobin measurementhemoglobin measurement (CMO:0000508)224597708845977089Human
597137962GWAS1234036_Hcolorectal cancer QTL GWAS1234036 (human)2e-09colorectal cancer224596831145968312Human
597044822GWAS1140896_Hrefractive error QTL GWAS1140896 (human)5e-14refractive error224596828145968282Human
597152214GWAS1248288_HDupuytren Contracture QTL GWAS1248288 (human)7e-21Dupuytren Contracture224592907745929078Human
597616607GWAS1673467_Herythrocyte count QTL GWAS1673467 (human)2e-20erythrocyte countred blood cell count (CMO:0000025)224597519945975200Human
597060180GWAS1156254_Hoptic disc size measurement QTL GWAS1156254 (human)1e-09pancreas size trait (VT:0003450)224596828145968282Human
597295577GWAS1391651_Hbody height QTL GWAS1391651 (human)1e-11body height (VT:0001253)body height (CMO:0000106)224597126445971265Human
597152336GWAS1248410_HDupuytren Contracture QTL GWAS1248410 (human)9e-22Dupuytren Contracture224594069145940692Human
597307357GWAS1403431_Herythrocyte count QTL GWAS1403431 (human)6e-43erythrocyte countred blood cell count (CMO:0000025)224596831145968312Human
597193567GWAS1289641_Haxial length measurement QTL GWAS1289641 (human)3e-27axial length measurement224597024745970248Human
597144799GWAS1240873_HDupuytren Contracture QTL GWAS1240873 (human)1e-509Dupuytren Contracture224597126445971265Human
597589591GWAS1646451_Hcontracture QTL GWAS1646451 (human)3e-29contracture224597126445971265Human
406950923GWAS599899_Hhematocrit QTL GWAS599899 (human)9e-19hematocrithematocrit (CMO:0000037)224596828145968282Human
597054557GWAS1150631_Hhematocrit QTL GWAS1150631 (human)6e-58hematocrithematocrit (CMO:0000037)224597519945975200Human
597090625GWAS1186699_Hred blood cell density measurement QTL GWAS1186699 (human)5e-52erythrocyte morphology trait (VT:0002447)224596831145968312Human
597049550GWAS1145624_Herythrocyte count QTL GWAS1145624 (human)2e-47erythrocyte countred blood cell count (CMO:0000025)224596828145968282Human
597241283GWAS1337357_Heye disease QTL GWAS1337357 (human)1e-09eye disease224596831145968312Human
597060299GWAS1156373_Hcentral corneal thickness QTL GWAS1156373 (human)2e-11central corneal thickness224596785945967860Human
597591806GWAS1648666_HPeyronie disease QTL GWAS1648666 (human)2e-19Peyronie disease224597126445971265Human
597241080GWAS1337154_HMyopia QTL GWAS1337154 (human)3e-09Myopia224597519945975200Human
597591804GWAS1648664_Hmale reproductive system disease QTL GWAS1648664 (human)4e-11male reproductive system disease224597126445971265Human
597606394GWAS1663254_HDupuytren Contracture QTL GWAS1663254 (human)3e-32Dupuytren Contracture224597126445971265Human
597606393GWAS1663253_HDupuytren Contracture QTL GWAS1663253 (human)1e-34Dupuytren Contracture224597126445971265Human
406980522GWAS629498_Hhematocrit QTL GWAS629498 (human)1e-43hematocrithematocrit (CMO:0000037)224597708845977089Human
407041835GWAS690811_Hlongitudinal BMI measurement QTL GWAS690811 (human)0.000005longitudinal BMI measurementbody mass index (BMI) (CMO:0000105)224595716645957167Human
597616756GWAS1673616_Hcontracture QTL GWAS1673616 (human)5e-27contracture224597126445971265Human
406980521GWAS629497_Hhematocrit QTL GWAS629497 (human)3e-10hematocrithematocrit (CMO:0000037)224594476045944761Human
597223542GWAS1319616_Hfrozen shoulder QTL GWAS1319616 (human)8e-37frozen shoulder224597126445971265Human
597617260GWAS1674120_HFasciitis QTL GWAS1674120 (human)7e-83Fasciitis224597126445971265Human
597080803GWAS1176877_Hred blood cell density measurement QTL GWAS1176877 (human)9e-57erythrocyte morphology trait (VT:0002447)224596831145968312Human
597060332GWAS1156406_Hcentral corneal thickness QTL GWAS1156406 (human)0.0000002central corneal thickness224596828145968282Human
597060331GWAS1156405_Hcentral corneal thickness QTL GWAS1156405 (human)2e-09central corneal thickness224596828145968282Human
597039464GWAS1135538_Hbalding measurement QTL GWAS1135538 (human)1e-12hair amount (VT:0000416)coat/hair morphological measurement (CMO:0001807)224596828145968282Human

Markers in Region
DXS7011E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,318,376 - 46,318,545UniSTSGRCh37
Build 362244,697,040 - 44,697,209RGDNCBI36
Cytogenetic Map22q13UniSTS
HuRef2229,263,782 - 29,263,951UniSTS
D22S1130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,316,250 - 46,316,406UniSTSGRCh37
Build 362244,694,914 - 44,695,070RGDNCBI36
Cytogenetic Map22q13UniSTS
HuRef2229,261,656 - 29,261,812UniSTS
UniSTS:465426  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,318,771 - 46,319,155UniSTSGRCh37
Build 362244,697,435 - 44,697,819RGDNCBI36
HuRef2229,264,177 - 29,264,561UniSTS
AL022549  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372246,321,319 - 46,321,438UniSTSGRCh37
Build 362244,699,983 - 44,700,102RGDNCBI36
Cytogenetic Map22q13UniSTS
HuRef2229,266,725 - 29,266,844UniSTS
D10S16   No map positions available.
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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
885 1673 2005 1459 4854 1550 2254 4 536 1262 379 2004 4986 4461 52 3521 769 1618 1608 175 1

Sequence


Ensembl Acc Id: ENST00000339464   ⟹   ENSP00000341032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,920,366 - 45,977,162 (-)Ensembl
Ensembl Acc Id: ENST00000409496   ⟹   ENSP00000386546
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,922,111 - 45,972,715 (-)Ensembl
Ensembl Acc Id: ENST00000410058   ⟹   ENSP00000387217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,927,482 - 45,976,805 (-)Ensembl
Ensembl Acc Id: ENST00000410089   ⟹   ENSP00000386781
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,922,111 - 45,976,022 (-)Ensembl
Ensembl Acc Id: ENST00000428540   ⟹   ENSP00000392750
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl2245,931,296 - 45,975,909 (-)Ensembl
RefSeq Acc Id: NM_001410806   ⟹   NP_001397735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,920,366 - 45,972,541 (-)NCBI
T2T-CHM13v2.02246,405,017 - 46,457,141 (-)NCBI
RefSeq Acc Id: NM_058238   ⟹   NP_478679
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh382245,920,366 - 45,977,162 (-)NCBI
GRCh372246,316,246 - 46,373,008 (-)ENTREZGENE
Build 362244,696,316 - 44,751,395 (-)NCBI Archive
HuRef2229,261,652 - 29,291,436 (-)ENTREZGENE
CHM1_12246,275,362 - 46,332,075 (-)NCBI
T2T-CHM13v2.02246,405,017 - 46,461,763 (-)NCBI
Sequence:
RefSeq Acc Id: NP_478679   ⟸   NM_058238
- Peptide Label: isoform 2 precursor
- UniProtKB: P56706 (UniProtKB/Swiss-Prot),   B8A596 (UniProtKB/Swiss-Prot),   Q96Q12 (UniProtKB/Swiss-Prot),   B8A595 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000386781   ⟸   ENST00000410089
Ensembl Acc Id: ENSP00000387217   ⟸   ENST00000410058
Ensembl Acc Id: ENSP00000392750   ⟸   ENST00000428540
Ensembl Acc Id: ENSP00000341032   ⟸   ENST00000339464
Ensembl Acc Id: ENSP00000386546   ⟸   ENST00000409496
RefSeq Acc Id: NP_001397735   ⟸   NM_001410806
- Peptide Label: isoform 1
- UniProtKB: A8K0G1 (UniProtKB/TrEMBL),   B8A595 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P56706-F1-model_v2 AlphaFold P56706 1-349 view protein structure

Promoters
RGD ID:6799930
Promoter ID:HG_KWN:43237
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000410089,   OTTHUMT00000336421
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,750,841 - 44,751,341 (-)MPROMDB
RGD ID:6799929
Promoter ID:HG_KWN:43238
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000410058,   OTTHUMT00000336418
Position:
Human AssemblyChrPosition (strand)Source
Build 362244,751,391 - 44,751,891 (-)MPROMDB
RGD ID:13604424
Promoter ID:EPDNEW_H28396
Type:initiation region
Name:WNT7B_1
Description:Wnt family member 7B
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
GRCh382245,977,162 - 45,977,222EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12787 AgrOrtholog
COSMIC WNT7B COSMIC
Ensembl Genes ENSG00000188064 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000339464 ENTREZGENE
  ENST00000339464.9 UniProtKB/Swiss-Prot
  ENST00000409496 ENTREZGENE
  ENST00000409496.7 UniProtKB/TrEMBL
  ENST00000410058.1 UniProtKB/TrEMBL
  ENST00000410089.5 UniProtKB/TrEMBL
  ENST00000428540.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.2460.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000188064 GTEx
HGNC ID HGNC:12787 ENTREZGENE
Human Proteome Map WNT7B Human Proteome Map
InterPro Wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt7 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Wnt_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:7477 UniProtKB/Swiss-Prot
NCBI Gene 7477 ENTREZGENE
OMIM 601967 OMIM
PANTHER PROTEIN WNT-7B UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR12027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam wnt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA37388 PharmGKB
PRINTS WNT7PROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  WNTPROTEIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART WNT1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K0G1 ENTREZGENE, UniProtKB/TrEMBL
  B8A595 ENTREZGENE, UniProtKB/TrEMBL
  B8A596 ENTREZGENE
  B8A597_HUMAN UniProtKB/TrEMBL
  B8A598_HUMAN UniProtKB/TrEMBL
  P56706 ENTREZGENE
  Q96Q12 ENTREZGENE
  WNT7B_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B8A596 UniProtKB/Swiss-Prot
  Q96Q12 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 WNT7B  Wnt family member 7B  WNT7B  wingless-type MMTV integration site family member 7B  Symbol and/or name change 5135510 APPROVED
2015-11-24 WNT7B  wingless-type MMTV integration site family member 7B  WNT7B  wingless-type MMTV integration site family, member 7B  Symbol and/or name change 5135510 APPROVED