CDH11 (cadherin 11) - Rat Genome Database

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Gene: CDH11 (cadherin 11) Homo sapiens
Analyze
Symbol: CDH11
Name: cadherin 11
RGD ID: 1351773
HGNC Page HGNC:1750
Description: Predicted to enable cadherin binding activity and calcium ion binding activity. Involved in focal adhesion assembly and negative regulation of cell migration. Located in extracellular exosome. Implicated in Elsahy-Waters syndrome and Teebi hypertelorism syndrome 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CAD11; cadherin 11, type 2, OB-cadherin (osteoblast); cadherin-11; CDHOB; ESWS; OB; OB-cadherin; OSF-4; osteoblast cadherin; TBHS2
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
GRCh381664,943,753 - 65,123,744 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1664,943,753 - 65,126,112 (-)EnsemblGRCh38hg38GRCh38
GRCh371664,977,656 - 65,155,966 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361663,538,184 - 63,713,420 (-)NCBINCBI36Build 36hg18NCBI36
Build 341663,538,185 - 63,713,420NCBI
Celera1649,484,273 - 49,659,540 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1650,850,425 - 51,025,603 (-)NCBIHuRef
CHM1_11666,388,690 - 66,563,938 (-)NCBICHM1_1
T2T-CHM13v2.01670,732,330 - 70,912,379 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(S)-nicotine  (ISO)
1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3'-diindolylmethane  (EXP)
4,4'-sulfonyldiphenol  (ISO)
5-aza-2'-deoxycytidine  (EXP)
acrylamide  (EXP)
afimoxifene  (EXP)
aflatoxin B1  (EXP)
Aflatoxin B2 alpha  (EXP)
all-trans-retinoic acid  (EXP,ISO)
alpha-Zearalanol  (ISO)
aluminium oxide  (EXP)
ammonium chloride  (ISO)
Aroclor 1254  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenite(3-)  (EXP)
azoxystrobin  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
caffeine  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chlordecone  (ISO)
chloroprene  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
curcumin  (EXP)
cyclosporin A  (EXP)
cytarabine  (EXP)
dibutyl phthalate  (ISO)
diethyl maleate  (ISO)
diethylstilbestrol  (ISO)
diquat  (ISO)
disulfiram  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
elemental selenium  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
ethanol  (ISO)
fenvalerate  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
hydrogen peroxide  (EXP)
indole-3-methanol  (ISO)
isoprenaline  (ISO)
ketamine  (ISO)
lead diacetate  (ISO)
lead(0)  (EXP)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
methylmercury chloride  (EXP)
mifepristone  (EXP)
N-acetyl-L-cysteine  (ISO)
N-nitrosodiethylamine  (ISO)
niclosamide  (EXP)
nicotine  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
paclitaxel  (EXP)
paracetamol  (ISO)
paraquat  (EXP,ISO)
perfluorooctanoic acid  (ISO)
picoxystrobin  (EXP)
potassium chromate  (EXP)
potassium dichromate  (EXP,ISO)
propofol  (EXP)
pyrogallol  (ISO)
quercetin  (EXP)
SB 431542  (EXP)
selenium atom  (EXP)
sevoflurane  (EXP)
sodium arsenite  (EXP)
sunitinib  (EXP)
tacrolimus hydrate  (ISO)
tamoxifen  (EXP)
temozolomide  (EXP)
tert-butyl hydroperoxide  (EXP)
titanium dioxide  (ISO)
topotecan  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal dentin morphology  (IAGP)
Abnormal midface morphology  (IAGP)
Abnormal sella turcica morphology  (IAGP)
Abnormality of the anus  (IAGP)
Abnormality of the cervical spine  (IAGP)
Abnormality of the dentition  (IAGP)
Abnormality of the vertebral spinous processes  (IAGP)
Absent external genitalia  (IAGP)
Absent nipple  (IAGP)
Advanced pneumatization of the mastoid process  (IAGP)
Agenesis of incisor  (IAGP)
Amelia involving the lower limbs  (IAGP)
Anal stenosis  (IAGP)
Anteriorly placed anus  (IAGP)
Anteverted nares  (IAGP)
Attached earlobe  (IAGP)
Attention deficit hyperactivity disorder  (IAGP)
Autistic behavior  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bifid nasal tip  (IAGP)
Bifid scrotum  (IAGP)
Bifid uvula  (IAGP)
Bilateral cryptorchidism  (IAGP)
Bladder exstrophy  (IAGP)
Blepharochalasis  (IAGP)
Brachycephaly  (IAGP)
Brachydactyly  (IAGP)
Broad forehead  (IAGP)
Broad nasal tip  (IAGP)
Broad philtrum  (IAGP)
Bulbous nose  (IAGP)
Carious teeth  (IAGP)
Cataract  (IAGP)
Cervical C2/C3 vertebral fusion  (IAGP)
Chin with horizontal crease  (IAGP)
Cleft palate  (IAGP)
Clinodactyly of the 5th finger  (IAGP)
Congenital onset  (IAGP)
Craniosynostosis  (IAGP)
Cutaneous finger syndactyly  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed fine motor development  (IAGP)
Dental malocclusion  (IAGP)
Depressed nasal bridge  (IAGP)
Downslanted palpebral fissures  (IAGP)
Downturned corners of mouth  (IAGP)
Everted lower lip vermilion  (IAGP)
Exodeviation  (IAGP)
Eyelid coloboma  (IAGP)
Facial asymmetry  (IAGP)
Flat face  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Hearing impairment  (IAGP)
High forehead  (IAGP)
High palate  (IAGP)
Highly arched eyebrow  (IAGP)
Hypertelorism  (IAGP)
Hypoplasia of the maxilla  (IAGP)
Hypospadias  (IAGP)
Impacted tooth  (IAGP)
Increased cup-to-disc ratio  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Intellectual disability, moderate  (IAGP)
Large earlobe  (IAGP)
Long philtrum  (IAGP)
Low hanging columella  (IAGP)
Low-set ears  (IAGP)
Malar flattening  (IAGP)
Mandibular prognathia  (IAGP)
Megalocornea  (IAGP)
Microcephaly  (IAGP)
Microdontia  (IAGP)
Micropenis  (IAGP)
Midface retrusion  (IAGP)
Mixed hearing impairment  (IAGP)
Multiple impacted teeth  (IAGP)
Narrow forehead  (IAGP)
Nevus  (IAGP)
Pectus excavatum  (IAGP)
Penoscrotal hypospadias  (IAGP)
Periorbital wrinkles  (IAGP)
Phthisis bulbi  (IAGP)
Pointed chin  (IAGP)
Posteriorly rotated ears  (IAGP)
Premature loss of teeth  (IAGP)
Proptosis  (IAGP)
Ptosis  (IAGP)
Rootless teeth  (IAGP)
Seizure  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short philtrum  (IAGP)
Shortening of all phalanges of fingers  (IAGP)
Strabismus  (IAGP)
Submucous cleft hard palate  (IAGP)
Supernumerary tooth  (IAGP)
Syndactyly  (IAGP)
Synophrys  (IAGP)
Telecanthus  (IAGP)
Thick eyebrow  (IAGP)
Thick lower lip vermilion  (IAGP)
Thickened calvaria  (IAGP)
Thin upper lip vermilion  (IAGP)
Thin vermilion border  (IAGP)
Thoracolumbar kyphoscoliosis  (IAGP)
Umbilical hernia  (IAGP)
Unilateral cleft palate  (IAGP)
Upper eyelid coloboma  (IAGP)
Upper limb peromelia  (IAGP)
Ureteral stenosis  (IAGP)
Wide anterior fontanel  (IAGP)
Wide intermamillary distance  (IAGP)
Wide nasal bridge  (IAGP)
Wide nose  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:2059658   PMID:7806582   PMID:7982033   PMID:8163513   PMID:9520111   PMID:9615235   PMID:10029089   PMID:10320525   PMID:10398117   PMID:10550312   PMID:10760957   PMID:11775026  
PMID:12477932   PMID:14625392   PMID:14985702   PMID:15383628   PMID:15509545   PMID:15743489   PMID:16344560   PMID:16651616   PMID:17292535   PMID:17474147   PMID:18193170   PMID:18302981  
PMID:18359978   PMID:18575746   PMID:18708358   PMID:18821672   PMID:19133007   PMID:19274078   PMID:19339270   PMID:19996288   PMID:20379614   PMID:21536877   PMID:21722156   PMID:21798287  
PMID:21873635   PMID:21990376   PMID:22139084   PMID:22267545   PMID:22374749   PMID:23162011   PMID:23272104   PMID:23376485   PMID:23533145   PMID:23951053   PMID:23971040   PMID:24574497  
PMID:24648356   PMID:24681547   PMID:24757152   PMID:24839052   PMID:24940649   PMID:25173800   PMID:25378659   PMID:25466890   PMID:25771201   PMID:25919928   PMID:26046821   PMID:26092671  
PMID:26121083   PMID:26188246   PMID:26224160   PMID:26476273   PMID:26514267   PMID:26519476   PMID:26706910   PMID:27118219   PMID:27311482   PMID:27855278   PMID:28292214   PMID:28854563  
PMID:28988429   PMID:29075357   PMID:29190819   PMID:29269046   PMID:29271567   PMID:29458077   PMID:30194892   PMID:30290240   PMID:30509494   PMID:30876808   PMID:31160603   PMID:31248373  
PMID:31407253   PMID:31894237   PMID:32929367   PMID:33285242   PMID:33307028   PMID:33811546   PMID:34278706   PMID:35293575   PMID:35416252   PMID:35662129   PMID:35831314   PMID:36809926  
PMID:37171723   PMID:37558205   PMID:37737289  


Genomics

Comparative Map Data
CDH11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381664,943,753 - 65,123,744 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1664,943,753 - 65,126,112 (-)EnsemblGRCh38hg38GRCh38
GRCh371664,977,656 - 65,155,966 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361663,538,184 - 63,713,420 (-)NCBINCBI36Build 36hg18NCBI36
Build 341663,538,185 - 63,713,420NCBI
Celera1649,484,273 - 49,659,540 (-)NCBICelera
Cytogenetic Map16q21NCBI
HuRef1650,850,425 - 51,025,603 (-)NCBIHuRef
CHM1_11666,388,690 - 66,563,938 (-)NCBICHM1_1
T2T-CHM13v2.01670,732,330 - 70,912,379 (-)NCBIT2T-CHM13v2.0
Cdh11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm398103,358,727 - 103,512,125 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl8103,358,727 - 103,512,274 (-)EnsemblGRCm39 Ensembl
GRCm388102,632,095 - 102,785,493 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl8102,632,095 - 102,785,642 (-)EnsemblGRCm38mm10GRCm38
MGSCv378105,156,895 - 105,309,011 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv368105,522,124 - 105,674,205 (-)NCBIMGSCv36mm8
Celera8106,868,993 - 107,021,043 (-)NCBICelera
Cytogenetic Map8D1NCBI
cM Map850.44NCBI
Cdh11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8192,152,961 - 2,312,140 (+)NCBIGRCr8
mRatBN7.2192,148,447 - 2,305,754 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl192,148,458 - 2,304,272 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx192,138,285 - 2,294,837 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0192,905,067 - 3,061,627 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0192,180,332 - 2,336,874 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0192,391,181 - 2,551,245 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl192,393,059 - 2,551,245 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0192,372,260 - 2,531,571 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4192,225,209 - 2,382,805 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1192,380,123 - 2,380,442 (+)NCBI
Celera192,130,072 - 2,287,470 (+)NCBICelera
Cytogenetic Map19p14NCBI
Cdh11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543321,612,297 - 21,687,281 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543321,613,909 - 21,770,968 (-)NCBIChiLan1.0ChiLan1.0
CDH11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21874,445,794 - 74,623,499 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11680,357,007 - 80,533,939 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01645,261,269 - 45,436,597 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11664,367,862 - 64,543,189 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1664,367,862 - 64,475,028 (-)Ensemblpanpan1.1panPan2
CDH11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1583,977,267 - 84,122,712 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl584,038,317 - 84,122,110 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha584,033,015 - 84,079,562 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0584,409,502 - 84,557,344 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl584,411,628 - 84,557,341 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1584,232,531 - 84,381,087 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0583,924,826 - 84,072,777 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0584,557,786 - 84,705,744 (+)NCBIUU_Cfam_GSD_1.0
Cdh11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440934943,926,784 - 44,075,712 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647515,511,804 - 15,662,330 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647515,513,402 - 15,662,330 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CDH11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl625,783,597 - 25,933,634 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1625,782,746 - 25,933,753 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2623,708,343 - 23,798,843 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CDH11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1550,652,628 - 50,825,640 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl550,649,627 - 50,775,440 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604725,098,253 - 25,288,448 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Cdh11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462474621,345,310 - 21,503,822 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462474621,345,304 - 21,501,542 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in CDH11
93 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001797.2(CDH11):c.-172-6420G>A single nucleotide variant Lung cancer [RCV000100172] Chr16:65011461 [GRCh38]
Chr16:65045364 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.2(CDH11):c.-172-12619A>G single nucleotide variant Lung cancer [RCV000100173] Chr16:65017660 [GRCh38]
Chr16:65051563 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3 copy number gain See cases [RCV000052405] Chr16:56883592..71279975 [GRCh38]
Chr16:56917504..71313878 [GRCh37]
Chr16:55475005..69871379 [NCBI36]
Chr16:16q13-22.2		 pathogenic
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 copy number gain See cases [RCV000052408] Chr16:58456122..74708723 [GRCh38]
Chr16:58490026..74742621 [GRCh37]
Chr16:57047527..73300122 [NCBI36]
Chr16:16q21-23.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:62179331-67770414)x1 copy number loss See cases [RCV000053333] Chr16:62179331..67770414 [GRCh38]
Chr16:62213235..67804317 [GRCh37]
Chr16:60770736..66361818 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:63318997-70555249)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053334]|See cases [RCV000053334] Chr16:63318997..70555249 [GRCh38]
Chr16:63352901..70589152 [GRCh37]
Chr16:61910402..69146653 [NCBI36]
Chr16:16q21-22.1		 pathogenic
GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1 copy number loss See cases [RCV000053335] Chr16:64311275..68062011 [GRCh38]
Chr16:64345179..68095914 [GRCh37]
Chr16:62902680..66653415 [NCBI36]
Chr16:16q21-22.1		 pathogenic
NM_001797.2(CDH11):c.565C>T (p.Pro189Ser) single nucleotide variant Malignant melanoma [RCV000063073] Chr16:64992993 [GRCh38]
Chr16:65026896 [GRCh37]
Chr16:63584397 [NCBI36]
Chr16:16q21		 not provided
NM_001797.4(CDH11):c.945G>A (p.Ser315=) single nucleotide variant Elsahy-Waters syndrome [RCV001554473]|not provided [RCV001673208] Chr16:64988211 [GRCh38]
Chr16:65022114 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.825G>A (p.Met275Ile) single nucleotide variant Elsahy-Waters syndrome [RCV001554474] Chr16:64988331 [GRCh38]
Chr16:65022234 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1895-668dup duplication Elsahy-Waters syndrome [RCV001333968] Chr16:64948761..64948762 [GRCh38]
Chr16:64982664..64982665 [GRCh37]
Chr16:16q21		 pathogenic
GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3 copy number gain See cases [RCV000135863] Chr16:62925929..84585795 [GRCh38]
Chr16:62959833..84619401 [GRCh37]
Chr16:61517334..83176902 [NCBI36]
Chr16:16q21-24.1		 pathogenic
GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3 copy number gain See cases [RCV000142578] Chr16:64389378..90081985 [GRCh38]
Chr16:64423281..90148393 [GRCh37]
Chr16:62980782..88675894 [NCBI36]
Chr16:16q21-24.3		 pathogenic|likely pathogenic
GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 copy number gain See cases [RCV000143425] Chr16:52899183..90088654 [GRCh38]
Chr16:52933095..90155062 [GRCh37]
Chr16:51490596..88682563 [NCBI36]
Chr16:16q12.2-24.3		 pathogenic
GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3 copy number gain See cases [RCV000143752] Chr16:49685521..68401712 [GRCh38]
Chr16:49719432..68435615 [GRCh37]
Chr16:48276933..66993116 [NCBI36]
Chr16:16q12.1-22.1		 pathogenic
NM_001797.4(CDH11):c.95G>A (p.Arg32Gln) single nucleotide variant Oromandibular-limb hypogenesis spectrum [RCV000239988] Chr16:65004775 [GRCh38]
Chr16:65038678 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu) single nucleotide variant Oromandibular-limb hypogenesis spectrum [RCV000240310] Chr16:64982054 [GRCh38]
Chr16:65015957 [GRCh37]
Chr16:16q21		 likely benign
GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1 copy number loss Breast ductal adenocarcinoma [RCV000207138] Chr16:46615804..90142285 [GRCh37]
Chr16:16q11.2-24.3		 uncertain significance
GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1 copy number loss Breast ductal adenocarcinoma [RCV000207067] Chr16:55359026..70884455 [GRCh37]
Chr16:16q12.2-22.2		 likely pathogenic|uncertain significance
Single allele complex Breast ductal adenocarcinoma [RCV000207314] Chr16:56368689..90141355 [GRCh37]
Chr16:16q12.2-24.3		 uncertain significance
NM_001797.4(CDH11):c.999+1G>T single nucleotide variant Elsahy-Waters syndrome [RCV000626316] Chr16:64988156 [GRCh38]
Chr16:65022059 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.778G>C (p.Asp260His) single nucleotide variant Elsahy-Waters syndrome [RCV003314254] Chr16:64991801 [GRCh38]
Chr16:65025704 [GRCh37]
Chr16:16q21		 likely pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46464488-90155062)x3 copy number gain See cases [RCV000446110] Chr16:46464488..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3 copy number gain See cases [RCV000446684] Chr16:69193..90274381 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3 copy number gain See cases [RCV000511622] Chr16:9273328..89548493 [GRCh37]
Chr16:16p13.2-q24.3		 uncertain significance
NM_001797.4(CDH11):c.82C>T (p.Arg28Trp) single nucleotide variant Inborn genetic diseases [RCV003239451] Chr16:65004788 [GRCh38]
Chr16:65038691 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.696C>G (p.Tyr232Ter) single nucleotide variant Elsahy-Waters syndrome [RCV000626318] Chr16:64991883 [GRCh38]
Chr16:65025786 [GRCh37]
Chr16:16q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626429] Chr16:46497599..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062) copy number gain See cases [RCV000511296] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3 copy number gain See cases [RCV000512138] Chr16:85881..90155062 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1 copy number loss Poly (ADP-Ribose) polymerase inhibitor response [RCV000626435] Chr16:46455960..90354753 [GRCh37]
Chr16:16q11.2-24.3		 drug response
GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3 copy number gain See cases [RCV000512511] Chr16:57051473..89797669 [GRCh37]
Chr16:16q13-24.3		 pathogenic
NM_001797.4(CDH11):c.1116_1117delinsGATCATCAG (p.Ile372fs) indel Elsahy-Waters syndrome [RCV000626317] Chr16:64982184..64982185 [GRCh38]
Chr16:65016087..65016088 [GRCh37]
Chr16:16q21		 pathogenic
GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3 copy number gain not provided [RCV000683820] Chr16:54416050..72453266 [GRCh37]
Chr16:16q12.2-22.2		 pathogenic
GRCh37/hg19 16q21(chr16:65153440-65313186)x1 copy number loss not provided [RCV000683824] Chr16:65153440..65313186 [GRCh37]
Chr16:16q21		 uncertain significance
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90274695)x3 copy number gain not provided [RCV000738918] Chr16:88165..90274695 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:61451-90294632)x3 copy number gain not provided [RCV000738915] Chr16:61451..90294632 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
GRCh37/hg19 16p13.3-q24.3(chr16:88165-90163275)x3 copy number gain not provided [RCV000738917] Chr16:88165..90163275 [GRCh37]
Chr16:16p13.3-q24.3		 pathogenic
NM_001797.4(CDH11):c.644-11T>C single nucleotide variant Elsahy-Waters syndrome [RCV001554477]|not provided [RCV001694113] Chr16:64991946 [GRCh38]
Chr16:65025849 [GRCh37]
Chr16:16q21		 benign
GRCh37/hg19 16q21(chr16:63141937-65654881)x1 copy number loss not provided [RCV000751714] Chr16:63141937..65654881 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.87G>A (p.Gly29=) single nucleotide variant not provided [RCV000885262] Chr16:65004783 [GRCh38]
Chr16:65038686 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1424C>T (p.Ala475Val) single nucleotide variant not provided [RCV000883297] Chr16:64972031 [GRCh38]
Chr16:65005934 [GRCh37]
Chr16:16q21		 benign|likely benign
NM_001797.4(CDH11):c.932A>G (p.Asp311Gly) single nucleotide variant not provided [RCV000900136] Chr16:64988224 [GRCh38]
Chr16:65022127 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1563G>A (p.Thr521=) single nucleotide variant not provided [RCV000916759] Chr16:64971658 [GRCh38]
Chr16:65005561 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1446C>T (p.Asn482=) single nucleotide variant not provided [RCV000892697] Chr16:64972009 [GRCh38]
Chr16:65005912 [GRCh37]
Chr16:16q21		 benign|likely benign
GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3 copy number gain not provided [RCV001249359] Chr16:61524229..90155062 [GRCh37]
Chr16:16q21-24.3		 not provided
GRCh37/hg19 16q21-22.1(chr16:64981506-66806661)x3 copy number gain not provided [RCV000996430] Chr16:64981506..66806661 [GRCh37]
Chr16:16q21-22.1		 uncertain significance
NM_001797.4(CDH11):c.523+4C>T single nucleotide variant not provided [RCV001572209] Chr16:64998558 [GRCh38]
Chr16:65032461 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.682G>T (p.Ala228Ser) single nucleotide variant not provided [RCV001556981] Chr16:64991897 [GRCh38]
Chr16:65025800 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1642+20C>T single nucleotide variant Elsahy-Waters syndrome [RCV001554393] Chr16:64971559 [GRCh38]
Chr16:65005462 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1117T>G (p.Ser373Ala) single nucleotide variant Elsahy-Waters syndrome [RCV001554395] Chr16:64982184 [GRCh38]
Chr16:65016087 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.764C>T (p.Thr255Met) single nucleotide variant Elsahy-Waters syndrome [RCV001554476]|not provided [RCV001694112] Chr16:64991815 [GRCh38]
Chr16:65025718 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1432G>A (p.Val478Ile) single nucleotide variant not provided [RCV000885292] Chr16:64972023 [GRCh38]
Chr16:65005926 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1895-599A>T single nucleotide variant not provided [RCV001169980] Chr16:64948698 [GRCh38]
Chr16:64982601 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001797.4(CDH11):c.1253+43G>C single nucleotide variant Elsahy-Waters syndrome [RCV001554394] Chr16:64982005 [GRCh38]
Chr16:65015908 [GRCh37]
Chr16:16q21		 benign
GRCh37/hg19 16q21(chr16:65079691-65285496)x3 copy number gain not provided [RCV001259856] Chr16:65079691..65285496 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.811+13A>G single nucleotide variant Elsahy-Waters syndrome [RCV001554475]|not provided [RCV001536138] Chr16:64991755 [GRCh38]
Chr16:65025658 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.1639C>T (p.Arg547Ter) single nucleotide variant not provided [RCV001268667] Chr16:64971582 [GRCh38]
Chr16:65005485 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001797.4(CDH11):c.2024C>G (p.Ala675Gly) single nucleotide variant not provided [RCV001764997] Chr16:64947970 [GRCh38]
Chr16:64981873 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1053C>T (p.Asn351=) single nucleotide variant not provided [RCV001816173] Chr16:64982248 [GRCh38]
Chr16:65016151 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.778G>A (p.Asp260Asn) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823802] Chr16:64991801 [GRCh38]
Chr16:65025704 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.979G>T (p.Gly327Trp) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823799] Chr16:64988177 [GRCh38]
Chr16:65022080 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.164G>C (p.Trp55Ser) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823800] Chr16:65004706 [GRCh38]
Chr16:65038609 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.780T>A (p.Asp260Glu) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823801] Chr16:64991799 [GRCh38]
Chr16:65025702 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.1121T>A (p.Val374Glu) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823803] Chr16:64982180 [GRCh38]
Chr16:65016083 [GRCh37]
Chr16:16q21		 pathogenic
NM_001797.4(CDH11):c.835G>C (p.Glu279Gln) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV001823804] Chr16:64988321 [GRCh38]
Chr16:65022224 [GRCh37]
Chr16:16q21		 pathogenic
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 copy number gain not provided [RCV002221458] Chr16:46503968..90155062 [GRCh37]
Chr16:16q11.2-24.3		 pathogenic
NM_001797.4(CDH11):c.2024C>T (p.Ala675Val) single nucleotide variant Inborn genetic diseases [RCV003288136] Chr16:64947970 [GRCh38]
Chr16:64981873 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2187C>A (p.Asp729Glu) single nucleotide variant Inborn genetic diseases [RCV002836842] Chr16:64947807 [GRCh38]
Chr16:64981710 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.94C>T (p.Arg32Trp) single nucleotide variant Inborn genetic diseases [RCV002817934] Chr16:65004776 [GRCh38]
Chr16:65038679 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1724G>T (p.Ser575Ile) single nucleotide variant Inborn genetic diseases [RCV002907119] Chr16:64950937 [GRCh38]
Chr16:64984840 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1430G>A (p.Arg477Lys) single nucleotide variant Inborn genetic diseases [RCV002773263] Chr16:64972025 [GRCh38]
Chr16:65005928 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1702T>C (p.Tyr568His) single nucleotide variant Inborn genetic diseases [RCV002946038] Chr16:64950959 [GRCh38]
Chr16:64984862 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.103T>C (p.Phe35Leu) single nucleotide variant Inborn genetic diseases [RCV002689741] Chr16:65004767 [GRCh38]
Chr16:65038670 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1774G>A (p.Val592Ile) single nucleotide variant Inborn genetic diseases [RCV002865779] Chr16:64950887 [GRCh38]
Chr16:64984790 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1299T>G (p.Ile433Met) single nucleotide variant Inborn genetic diseases [RCV002981718] Chr16:64972995 [GRCh38]
Chr16:65006898 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1564G>T (p.Ala522Ser) single nucleotide variant Inborn genetic diseases [RCV002758794] Chr16:64971657 [GRCh38]
Chr16:65005560 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.133G>A (p.Gly45Arg) single nucleotide variant Inborn genetic diseases [RCV003028621]|not provided [RCV003019511] Chr16:65004737 [GRCh38]
Chr16:65038640 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1409C>T (p.Ala470Val) single nucleotide variant Inborn genetic diseases [RCV002949750] Chr16:64972046 [GRCh38]
Chr16:65005949 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.695A>T (p.Tyr232Phe) single nucleotide variant Inborn genetic diseases [RCV002822589] Chr16:64991884 [GRCh38]
Chr16:65025787 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1945A>G (p.Ile649Val) single nucleotide variant Inborn genetic diseases [RCV002786880] Chr16:64948049 [GRCh38]
Chr16:64981952 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.961G>T (p.Asp321Tyr) single nucleotide variant Inborn genetic diseases [RCV002986211] Chr16:64988195 [GRCh38]
Chr16:65022098 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1852G>A (p.Gly618Ser) single nucleotide variant not provided [RCV002602228] Chr16:64950809 [GRCh38]
Chr16:64984712 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1666C>T (p.Arg556Trp) single nucleotide variant Inborn genetic diseases [RCV002718747]|not provided [RCV003420431] Chr16:64950995 [GRCh38]
Chr16:64984898 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1270C>G (p.His424Asp) single nucleotide variant Inborn genetic diseases [RCV002832145] Chr16:64973024 [GRCh38]
Chr16:65006927 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1760C>G (p.Thr587Ser) single nucleotide variant Inborn genetic diseases [RCV002878329] Chr16:64950901 [GRCh38]
Chr16:64984804 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1366A>T (p.Ile456Phe) single nucleotide variant Inborn genetic diseases [RCV002718877] Chr16:64972928 [GRCh38]
Chr16:65006831 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1397G>A (p.Arg466Gln) single nucleotide variant Inborn genetic diseases [RCV003189947] Chr16:64972058 [GRCh38]
Chr16:65005961 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1664C>T (p.Ala555Val) single nucleotide variant Inborn genetic diseases [RCV003179071] Chr16:64950997 [GRCh38]
Chr16:64984900 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.83G>A (p.Arg28Gln) single nucleotide variant not provided [RCV003229432] Chr16:65004787 [GRCh38]
Chr16:65038690 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1351A>G (p.Thr451Ala) single nucleotide variant Inborn genetic diseases [RCV003174862] Chr16:64972943 [GRCh38]
Chr16:65006846 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2002G>A (p.Gly668Ser) single nucleotide variant Elsahy-Waters syndrome [RCV003225913] Chr16:64947992 [GRCh38]
Chr16:64981895 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.703G>A (p.Val235Met) single nucleotide variant Inborn genetic diseases [RCV003220262] Chr16:64991876 [GRCh38]
Chr16:65025779 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2296G>A (p.Asp766Asn) single nucleotide variant Inborn genetic diseases [RCV003217821] Chr16:64947698 [GRCh38]
Chr16:64981601 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.*239dup duplication Orofacial cleft 1 [RCV003321461] Chr16:64947363..64947364 [GRCh38]
Chr16:64981266..64981267 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.229C>T (p.Leu77Phe) single nucleotide variant Teebi hypertelorism syndrome 2 [RCV003387444] Chr16:64998856 [GRCh38]
Chr16:65032759 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001797.4(CDH11):c.391G>A (p.Val131Met) single nucleotide variant Inborn genetic diseases [RCV003355052] Chr16:64998694 [GRCh38]
Chr16:65032597 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1895-547del deletion not provided [RCV003419353] Chr16:64948646 [GRCh38]
Chr16:64982549 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1786G>T (p.Asp596Tyr) single nucleotide variant Inborn genetic diseases [RCV003364212] Chr16:64950875 [GRCh38]
Chr16:64984778 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1895-561A>G single nucleotide variant not provided [RCV003456936] Chr16:64948660 [GRCh38]
Chr16:64982563 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2229C>T (p.Tyr743=) single nucleotide variant not provided [RCV003426728] Chr16:64947765 [GRCh38]
Chr16:64981668 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1096del (p.Asp366fs) deletion not provided [RCV003419354] Chr16:64982205 [GRCh38]
Chr16:65016108 [GRCh37]
Chr16:16q21		 likely pathogenic
NM_001797.4(CDH11):c.903C>T (p.Gly301=) single nucleotide variant not provided [RCV003419355] Chr16:64988253 [GRCh38]
Chr16:65022156 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.2382C>T (p.Asp794=) single nucleotide variant not provided [RCV003411363] Chr16:64947612 [GRCh38]
Chr16:64981515 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1895-507A>G single nucleotide variant not provided [RCV003411364] Chr16:64948606 [GRCh38]
Chr16:64982509 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.644-5T>G single nucleotide variant not provided [RCV003411365] Chr16:64991940 [GRCh38]
Chr16:65025843 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2133G>A (p.Ala711=) single nucleotide variant not provided [RCV003419352] Chr16:64947861 [GRCh38]
Chr16:64981764 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1895-569dup duplication CDH11-related condition [RCV003391585] Chr16:64948667..64948668 [GRCh38]
Chr16:64982570..64982571 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2073C>G (p.Ile691Met) single nucleotide variant CDH11-related condition [RCV003921405]|not provided [RCV003885024] Chr16:64947921 [GRCh38]
Chr16:64981824 [GRCh37]
Chr16:16q21		 benign|likely benign
GRCh37/hg19 16q12.2-22.1(chr16:55329260-67180113)x1 copy number loss not specified [RCV003987196] Chr16:55329260..67180113 [GRCh37]
Chr16:16q12.2-22.1		 pathogenic
NM_001797.4(CDH11):c.409C>T (p.Arg137Trp) single nucleotide variant Elsahy-Waters syndrome [RCV003991710] Chr16:64998676 [GRCh38]
Chr16:65032579 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1390C>T (p.His464Tyr) single nucleotide variant Elsahy-Waters syndrome [RCV003990379] Chr16:64972904 [GRCh38]
Chr16:65006807 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.*8G>C single nucleotide variant CDH11-related condition [RCV003933870] Chr16:64947595 [GRCh38]
Chr16:64981498 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.*7C>T single nucleotide variant CDH11-related condition [RCV003982458] Chr16:64947596 [GRCh38]
Chr16:64981499 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1895-503C>G single nucleotide variant CDH11-related condition [RCV003911571] Chr16:64948602 [GRCh38]
Chr16:64982505 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1248G>A (p.Pro416=) single nucleotide variant not provided [RCV003884294] Chr16:64982053 [GRCh38]
Chr16:65015956 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1039G>C (p.Val347Leu) single nucleotide variant CDH11-related condition [RCV003978982] Chr16:64982262 [GRCh38]
Chr16:65016165 [GRCh37]
Chr16:16q21		 benign
NM_001797.4(CDH11):c.198C>T (p.Tyr66=) single nucleotide variant CDH11-related condition [RCV003922244] Chr16:65004672 [GRCh38]
Chr16:65038575 [GRCh37]
Chr16:16q21		 likely benign
NM_001797.4(CDH11):c.1297A>G (p.Ile433Val) single nucleotide variant Inborn genetic diseases [RCV004427931] Chr16:64972997 [GRCh38]
Chr16:65006900 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1328C>T (p.Thr443Ile) single nucleotide variant Inborn genetic diseases [RCV004427932] Chr16:64972966 [GRCh38]
Chr16:65006869 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1881C>G (p.Ile627Met) single nucleotide variant Inborn genetic diseases [RCV004427933] Chr16:64950780 [GRCh38]
Chr16:64984683 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2374T>C (p.Phe792Leu) single nucleotide variant Inborn genetic diseases [RCV004427934] Chr16:64947620 [GRCh38]
Chr16:64981523 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.2383G>A (p.Asp795Asn) single nucleotide variant Inborn genetic diseases [RCV004427935] Chr16:64947611 [GRCh38]
Chr16:64981514 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.904T>A (p.Leu302Ile) single nucleotide variant Inborn genetic diseases [RCV004427937] Chr16:64988252 [GRCh38]
Chr16:65022155 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.359A>T (p.Glu120Val) single nucleotide variant Inborn genetic diseases [RCV004427936] Chr16:64998726 [GRCh38]
Chr16:65032629 [GRCh37]
Chr16:16q21		 uncertain significance
NM_001797.4(CDH11):c.1177C>T (p.Gln393Ter) single nucleotide variant Elsahy-Waters syndrome [RCV003991147] Chr16:64982124 [GRCh38]
Chr16:65016027 [GRCh37]
Chr16:16q21		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6213
Count of miRNA genes:1339
Interacting mature miRNAs:1741
Transcripts:ENST00000268603, ENST00000394156, ENST00000562325, ENST00000562712, ENST00000562882, ENST00000562998, ENST00000563255, ENST00000563492, ENST00000564317, ENST00000564770, ENST00000565210, ENST00000566827, ENST00000567934, ENST00000568340, ENST00000569095, ENST00000569128, ENST00000569624, ENST00000569783
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D16S3050  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,067,047 - 65,067,206UniSTSGRCh37
Build 361663,624,548 - 63,624,707RGDNCBI36
Celera1649,570,627 - 49,570,796RGD
Cytogenetic Map16q21UniSTS
HuRef1650,936,799 - 50,936,968UniSTS
Marshfield Genetic Map1684.75RGD
Marshfield Genetic Map1684.75UniSTS
Genethon Genetic Map1683.1UniSTS
TNG Radiation Hybrid Map1627624.0UniSTS
deCODE Assembly Map1683.12UniSTS
RH68896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371664,980,771 - 64,980,894UniSTSGRCh37
Build 361663,538,272 - 63,538,395RGDNCBI36
Celera1649,484,361 - 49,484,484RGD
Cytogenetic Map16q21UniSTS
HuRef1650,850,513 - 50,850,636UniSTS
GeneMap99-GB4 RH Map16390.67UniSTS
SHGC-10595  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,151,273 - 65,151,407UniSTSGRCh37
Build 361663,708,774 - 63,708,908RGDNCBI36
Celera1649,654,865 - 49,654,999RGD
Cytogenetic Map16q21UniSTS
HuRef1651,020,957 - 51,021,091UniSTS
Stanford-G3 RH Map162371.0UniSTS
NCBI RH Map16508.6UniSTS
RH120288  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,036,494 - 65,036,765UniSTSGRCh37
Build 361663,593,995 - 63,594,266RGDNCBI36
Celera1649,540,078 - 49,540,349RGD
Cytogenetic Map16q21UniSTS
HuRef1650,906,232 - 50,906,503UniSTS
TNG Radiation Hybrid Map1627613.0UniSTS
D16S2936E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,032,550 - 65,032,656UniSTSGRCh37
Build 361663,590,051 - 63,590,157RGDNCBI36
Celera1649,536,133 - 49,536,239RGD
Cytogenetic Map16q21UniSTS
HuRef1650,902,286 - 50,902,392UniSTS
D16S2861  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,147,557 - 65,147,720UniSTSGRCh37
Build 361663,705,058 - 63,705,221RGDNCBI36
Celera1649,651,149 - 49,651,312RGD
Cytogenetic Map16q21UniSTS
HuRef1651,017,242 - 51,017,405UniSTS
SHGC-107626  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,084,151 - 65,084,483UniSTSGRCh37
Build 361663,641,652 - 63,641,984RGDNCBI36
Celera1649,587,762 - 49,588,094RGD
Cytogenetic Map16q21UniSTS
HuRef1650,953,860 - 50,954,192UniSTS
TNG Radiation Hybrid Map1627653.0UniSTS
SHGC-7105  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,143,592 - 65,143,710UniSTSGRCh37
Build 361663,701,093 - 63,701,211RGDNCBI36
Celera1649,647,186 - 49,647,304RGD
Cytogenetic Map16q21UniSTS
HuRef1651,013,287 - 51,013,405UniSTS
TNG Radiation Hybrid Map1627676.0UniSTS
Stanford-G3 RH Map162378.0UniSTS
D16S438E  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,032,550 - 65,032,624UniSTSGRCh37
Build 361663,590,051 - 63,590,125RGDNCBI36
Celera1649,536,133 - 49,536,207RGD
Cytogenetic Map16q21UniSTS
HuRef1650,902,286 - 50,902,360UniSTS
Whitehead-YAC Contig Map16 UniSTS
D16S3238  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,080,527 - 65,080,755UniSTSGRCh37
Build 361663,638,028 - 63,638,256RGDNCBI36
Celera1649,584,138 - 49,584,366RGD
Cytogenetic Map16q21UniSTS
HuRef1650,950,236 - 50,950,464UniSTS
Whitehead-YAC Contig Map16 UniSTS
D16S3228  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371665,014,579 - 65,014,862UniSTSGRCh37
Build 361663,572,080 - 63,572,363RGDNCBI36
Celera1649,518,152 - 49,518,435RGD
Cytogenetic Map16q21UniSTS
HuRef1650,884,292 - 50,884,575UniSTS
Whitehead-YAC Contig Map16 UniSTS
CDH11_3314  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371664,980,574 - 64,981,376UniSTSGRCh37
Build 361663,538,075 - 63,538,877RGDNCBI36
Celera1649,484,164 - 49,484,966RGD
HuRef1650,850,316 - 50,851,118UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 157 1206 168 51 296 19 1503 72 830 101 606 778 36 341 1229 2
Low 2187 949 1243 278 274 149 2352 1598 2894 253 772 699 135 1 863 1118 2
Below cutoff 38 753 294 282 824 280 452 519 6 38 25 68 2 441 2

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029491 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001308392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001330576 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255762 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005255763 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011522803 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450134 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047433486 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379350 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379351 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054379352 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209760 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC010533 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC137643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH007606 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK291251 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK294872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK308000 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC013609 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ007417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471092 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068262 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21254 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D21255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA406052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L34056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000268603   ⟹   ENSP00000268603
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,943,753 - 65,122,063 (-)Ensembl
RefSeq Acc Id: ENST00000394156   ⟹   ENSP00000377711
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,943,753 - 65,122,036 (-)Ensembl
RefSeq Acc Id: ENST00000562325   ⟹   ENSP00000456110
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,803 - 65,122,092 (-)Ensembl
RefSeq Acc Id: ENST00000562712   ⟹   ENSP00000455120
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,709 - 65,059,678 (-)Ensembl
RefSeq Acc Id: ENST00000562882   ⟹   ENSP00000455697
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,766 - 65,072,213 (-)Ensembl
RefSeq Acc Id: ENST00000562998   ⟹   ENSP00000455420
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,660 - 65,122,065 (-)Ensembl
RefSeq Acc Id: ENST00000563255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,053,899 - 65,124,188 (-)Ensembl
RefSeq Acc Id: ENST00000563492
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,053,804 - 65,126,112 (-)Ensembl
RefSeq Acc Id: ENST00000564317   ⟹   ENSP00000456772
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,673 - 65,122,365 (-)Ensembl
RefSeq Acc Id: ENST00000564770
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,094,607 - 65,122,015 (-)Ensembl
RefSeq Acc Id: ENST00000565210
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,006,862 - 65,122,046 (-)Ensembl
RefSeq Acc Id: ENST00000566827   ⟹   ENSP00000457812
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,947,547 - 65,121,930 (-)Ensembl
RefSeq Acc Id: ENST00000567934   ⟹   ENSP00000455779
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,991,913 - 65,072,260 (-)Ensembl
RefSeq Acc Id: ENST00000568340
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,853 - 65,124,286 (-)Ensembl
RefSeq Acc Id: ENST00000569095
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,968,434 - 64,972,949 (-)Ensembl
RefSeq Acc Id: ENST00000569128
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,991,343 - 64,998,629 (-)Ensembl
RefSeq Acc Id: ENST00000569624
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,004,642 - 65,124,292 (-)Ensembl
RefSeq Acc Id: ENST00000569783
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1665,118,801 - 65,122,057 (-)Ensembl
RefSeq Acc Id: ENST00000619158   ⟹   ENSP00000484650
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1664,984,696 - 64,988,334 (-)Ensembl
RefSeq Acc Id: NM_001308392   ⟹   NP_001295321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381664,943,753 - 65,122,063 (-)NCBI
CHM1_11666,385,664 - 66,564,059 (-)NCBI
T2T-CHM13v2.01670,732,330 - 70,910,698 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001330576   ⟹   NP_001317505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381664,943,753 - 65,122,063 (-)NCBI
T2T-CHM13v2.01670,732,330 - 70,910,698 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001797   ⟹   NP_001788
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381664,943,753 - 65,122,063 (-)NCBI
GRCh371664,916,794 - 65,160,015 (-)NCBI
Build 361663,538,184 - 63,713,420 (-)NCBI Archive
HuRef1650,850,425 - 51,025,603 (-)ENTREZGENE
CHM1_11666,385,664 - 66,564,059 (-)NCBI
T2T-CHM13v2.01670,732,330 - 70,910,698 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047433486   ⟹   XP_047289442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381664,943,753 - 65,123,744 (-)NCBI
RefSeq Acc Id: XM_054379350   ⟹   XP_054235325
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01670,732,330 - 70,814,022 (-)NCBI
RefSeq Acc Id: XM_054379351   ⟹   XP_054235326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01670,732,330 - 70,814,022 (-)NCBI
RefSeq Acc Id: XM_054379352   ⟹   XP_054235327
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01670,732,330 - 70,912,379 (-)NCBI
Reference Protein Sequences
RefSeq Acc Id: NP_001788   ⟸   NM_001797
- Peptide Label: isoform 1 preproprotein
- UniProtKB: Q9UQ93 (UniProtKB/Swiss-Prot),   Q15066 (UniProtKB/Swiss-Prot),   Q15065 (UniProtKB/Swiss-Prot),   B7WP28 (UniProtKB/Swiss-Prot),   A8MZC8 (UniProtKB/Swiss-Prot),   A8K5D6 (UniProtKB/Swiss-Prot),   Q9UQ94 (UniProtKB/Swiss-Prot),   P55287 (UniProtKB/Swiss-Prot),   Q96CZ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001295321   ⟸   NM_001308392
- Peptide Label: isoform 2 precursor
- UniProtKB: P55287 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001317505   ⟸   NM_001330576
- Peptide Label: isoform 3
- UniProtKB: H3BUU9 (UniProtKB/TrEMBL),   B4DMA7 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000268603   ⟸   ENST00000268603
RefSeq Acc Id: ENSP00000455420   ⟸   ENST00000562998
RefSeq Acc Id: ENSP00000455697   ⟸   ENST00000562882
RefSeq Acc Id: ENSP00000456110   ⟸   ENST00000562325
RefSeq Acc Id: ENSP00000455120   ⟸   ENST00000562712
RefSeq Acc Id: ENSP00000456772   ⟸   ENST00000564317
RefSeq Acc Id: ENSP00000377711   ⟸   ENST00000394156
RefSeq Acc Id: ENSP00000484650   ⟸   ENST00000619158
RefSeq Acc Id: ENSP00000457812   ⟸   ENST00000566827
RefSeq Acc Id: ENSP00000455779   ⟸   ENST00000567934
RefSeq Acc Id: XP_047289442   ⟸   XM_047433486
- Peptide Label: isoform X1
- UniProtKB: H3BUU9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235327   ⟸   XM_054379352
- Peptide Label: isoform X1
- UniProtKB: H3BUU9 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054235325   ⟸   XM_054379350
- Peptide Label: isoform X2
- UniProtKB: Q9UQ93 (UniProtKB/Swiss-Prot),   Q15066 (UniProtKB/Swiss-Prot),   Q15065 (UniProtKB/Swiss-Prot),   P55287 (UniProtKB/Swiss-Prot),   B7WP28 (UniProtKB/Swiss-Prot),   A8MZC8 (UniProtKB/Swiss-Prot),   A8K5D6 (UniProtKB/Swiss-Prot),   Q9UQ94 (UniProtKB/Swiss-Prot)
RefSeq Acc Id: XP_054235326   ⟸   XM_054379351
- Peptide Label: isoform X3
Protein Domains
Cadherin

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P55287-F1-model_v2 AlphaFold P55287 1-796 view protein structure

Promoters
RGD ID:7232411
Promoter ID:EPDNEW_H21950
Type:multiple initiation site
Name:CDH11_3
Description:cadherin 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21951  EPDNEW_H21952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381665,094,627 - 65,094,687EPDNEW
RGD ID:7232409
Promoter ID:EPDNEW_H21951
Type:initiation region
Name:CDH11_1
Description:cadherin 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21950  EPDNEW_H21952  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381665,122,063 - 65,122,123EPDNEW
RGD ID:7232413
Promoter ID:EPDNEW_H21952
Type:initiation region
Name:CDH11_2
Description:cadherin 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H21951  EPDNEW_H21950  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381665,126,124 - 65,126,184EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1750 AgrOrtholog
COSMIC CDH11 COSMIC
Ensembl Genes ENSG00000140937 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000268603 ENTREZGENE
  ENST00000268603.9 UniProtKB/Swiss-Prot
  ENST00000394156 ENTREZGENE
  ENST00000394156.7 UniProtKB/Swiss-Prot
  ENST00000562325.5 UniProtKB/TrEMBL
  ENST00000562712.5 UniProtKB/TrEMBL
  ENST00000562882.5 UniProtKB/TrEMBL
  ENST00000562998.1 UniProtKB/TrEMBL
  ENST00000564317.5 UniProtKB/TrEMBL
  ENST00000566827 ENTREZGENE
  ENST00000566827.5 UniProtKB/TrEMBL
  ENST00000567934.5 UniProtKB/TrEMBL
  ENST00000619158.1 UniProtKB/TrEMBL
Gene3D-CATH 4.10.900.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000140937 GTEx
HGNC ID HGNC:1750 ENTREZGENE
Human Proteome Map CDH11 Human Proteome Map
InterPro Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin-like_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_cytoplasmic-dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Catenin_binding_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1009 UniProtKB/Swiss-Prot
NCBI Gene 1009 ENTREZGENE
OMIM 600023 OMIM
PANTHER CADHERIN-11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR24027 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Cadherin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Cadherin_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA26284 PharmGKB
PRINTS CADHERIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE CADHERIN_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  CADHERIN_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SM00112 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF49313 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X227_HUMAN UniProtKB/TrEMBL
  A8K5D6 ENTREZGENE
  A8MZC8 ENTREZGENE
  B4DMA7 ENTREZGENE, UniProtKB/TrEMBL
  B7WP28 ENTREZGENE
  CAD11_HUMAN UniProtKB/Swiss-Prot
  H3BP26_HUMAN UniProtKB/TrEMBL
  H3BPQ2_HUMAN UniProtKB/TrEMBL
  H3BQB5_HUMAN UniProtKB/TrEMBL
  H3BQH2_HUMAN UniProtKB/TrEMBL
  H3BR78_HUMAN UniProtKB/TrEMBL
  H3BSM4_HUMAN UniProtKB/TrEMBL
  H3BUU9 ENTREZGENE, UniProtKB/TrEMBL
  P55287 ENTREZGENE
  Q15065 ENTREZGENE
  Q15066 ENTREZGENE
  Q96CZ9 ENTREZGENE, UniProtKB/TrEMBL
  Q9UQ93 ENTREZGENE
  Q9UQ94 ENTREZGENE
UniProt Secondary A8K5D6 UniProtKB/Swiss-Prot
  A8MZC8 UniProtKB/Swiss-Prot
  B7WP28 UniProtKB/Swiss-Prot
  Q15065 UniProtKB/Swiss-Prot
  Q15066 UniProtKB/Swiss-Prot
  Q9UQ93 UniProtKB/Swiss-Prot
  Q9UQ94 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-01-19 CDH11  cadherin 11  CDH11  cadherin 11, type 2, OB-cadherin (osteoblast)  Symbol and/or name change 5135510 APPROVED