CTNND1 (catenin delta 1) - Rat Genome Database

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Gene: CTNND1 (catenin delta 1) Homo sapiens
Analyze
Symbol: CTNND1
Name: catenin delta 1
RGD ID: 1313793
HGNC Page HGNC
Description: Enables cadherin binding activity and signaling receptor binding activity. Involved in several processes, including cell-cell adhesion mediated by cadherin; negative regulation of canonical Wnt signaling pathway; and protein stabilization. Located in several cellular components, including cell-cell junction; cytosol; and midbody. Part of catenin complex. Implicated in blepharocheilodontic syndrome 2. Biomarker of oral squamous cell carcinoma.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: BCDS2; cadherin-associated Src substrate; CAS; catenin (cadherin-associated protein), delta 1; catenin delta-1; CTNND; KIAA0384; p120; p120 catenin; p120(CAS); p120(CTN); P120CAS; P120CTN
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1157,753,243 - 57,819,546 (+)EnsemblGRCh38hg38GRCh38
GRCh381157,761,802 - 57,819,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371157,529,274 - 57,587,012 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,285,810 - 57,343,228 (+)NCBINCBI36hg18NCBI36
Build 341157,285,844 - 57,343,226NCBI
Celera1154,886,498 - 54,943,699 (+)NCBI
Cytogenetic Map11q12.1NCBI
HuRef1153,877,613 - 53,935,179 (+)NCBIHuRef
CHM1_11157,396,253 - 57,453,671 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (EXP)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
5-aza-2'-deoxycytidine  (ISO)
6-propyl-2-thiouracil  (ISO)
acrolein  (EXP)
all-trans-retinoic acid  (ISO)
alpha-pinene  (EXP)
ammonium chloride  (ISO)
arsenous acid  (EXP)
benzo[a]pyrene  (EXP,ISO)
bis(2-chloroethyl) sulfide  (EXP)
bisphenol A  (EXP,ISO)
Brodifacoum  (ISO)
butanal  (EXP)
cadmium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
cobalt dichloride  (EXP)
copper(II) sulfate  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (ISO)
cyclosporin A  (EXP)
Deguelin  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (ISO)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
fenpyroximate  (EXP)
folic acid  (ISO)
folpet  (ISO)
formaldehyde  (EXP)
gallic acid  (EXP)
Goe 6976  (ISO)
hexadecanoic acid  (EXP)
hydralazine  (EXP)
hydrogen peroxide  (EXP)
imidacloprid  (ISO)
lead(0)  (EXP)
lead(2+)  (EXP)
lipopolysaccharide  (EXP)
manganese(II) chloride  (ISO)
mangiferin  (EXP)
menadione  (EXP)
methotrexate  (EXP)
methyl methanesulfonate  (EXP)
N-methyl-4-phenylpyridinium  (ISO)
ochratoxin A  (EXP)
ozone  (EXP)
p-cresol  (ISO)
paracetamol  (EXP)
paraquat  (EXP)
PCB138  (ISO)
perfluorooctane-1-sulfonic acid  (ISO)
perfluorooctanoic acid  (EXP,ISO)
phenol red  (EXP)
picoxystrobin  (EXP)
pyrimidifen  (EXP)
resveratrol  (EXP,ISO)
SB 431542  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulforaphane  (EXP)
sunitinib  (EXP)
tebufenpyrad  (EXP)
thifluzamide  (EXP)
triptonide  (ISO)
troglitazone  (ISO)
valproic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
References

Additional References at PubMed
PMID:7542250   PMID:7651399   PMID:7806582   PMID:7876318   PMID:8660921   PMID:8808291   PMID:9205841   PMID:9378757   PMID:9535896   PMID:9653641   PMID:9774455   PMID:10207085  
PMID:10208590   PMID:10225956   PMID:10321838   PMID:10393933   PMID:10409703   PMID:10629228   PMID:10753936   PMID:10835420   PMID:10931041   PMID:11181067   PMID:11226248   PMID:11382764  
PMID:11389551   PMID:11712088   PMID:11821434   PMID:11855855   PMID:11969288   PMID:12115574   PMID:12151522   PMID:12370829   PMID:12427869   PMID:12475979   PMID:12477932   PMID:12492499  
PMID:12604612   PMID:12640114   PMID:12671892   PMID:12707304   PMID:12734196   PMID:12740216   PMID:12835311   PMID:12885254   PMID:14610055   PMID:14610056   PMID:14625392   PMID:14660598  
PMID:14699141   PMID:14996911   PMID:15146197   PMID:15161659   PMID:15166316   PMID:15240885   PMID:15324660   PMID:15342556   PMID:15522875   PMID:15548582   PMID:15561585   PMID:15564377  
PMID:15588985   PMID:15592455   PMID:15657067   PMID:15817151   PMID:15833838   PMID:15857834   PMID:15951569   PMID:16083285   PMID:16120645   PMID:16212419   PMID:16226102   PMID:16344560  
PMID:16354688   PMID:16534869   PMID:16786001   PMID:16935280   PMID:16982802   PMID:17047063   PMID:17081983   PMID:17115030   PMID:17215244   PMID:17242406   PMID:17255364   PMID:17264675  
PMID:17334396   PMID:17344476   PMID:17383052   PMID:17509776   PMID:17576929   PMID:17620599   PMID:17668445   PMID:17719574   PMID:18029348   PMID:18032823   PMID:18343367   PMID:18407999  
PMID:18490349   PMID:18541383   PMID:18550473   PMID:18595142   PMID:18602475   PMID:18632982   PMID:18641366   PMID:18653469   PMID:18837082   PMID:18950621   PMID:18979298   PMID:19008223  
PMID:19041755   PMID:19114997   PMID:19116988   PMID:19150613   PMID:19154401   PMID:19162367   PMID:19199708   PMID:19284555   PMID:19293150   PMID:19332538   PMID:19394292   PMID:19604117  
PMID:19615732   PMID:19706605   PMID:19711372   PMID:19763914   PMID:19894558   PMID:20108168   PMID:20118984   PMID:20123964   PMID:20151151   PMID:20172018   PMID:20193553   PMID:20232357  
PMID:20371349   PMID:20382170   PMID:20460685   PMID:20467437   PMID:20510078   PMID:20562859   PMID:20564219   PMID:20599710   PMID:20668551   PMID:20940130   PMID:20971762   PMID:21070476  
PMID:21098636   PMID:21145461   PMID:21150319   PMID:21244100   PMID:21317933   PMID:21336985   PMID:21385933   PMID:21468542   PMID:21481789   PMID:21554891   PMID:21670201   PMID:21732359  
PMID:21747168   PMID:21775625   PMID:21832049   PMID:21873635   PMID:21903422   PMID:21937720   PMID:22022388   PMID:22031287   PMID:22120634   PMID:22276175   PMID:22304920   PMID:22513089  
PMID:22583808   PMID:22590627   PMID:22615871   PMID:22648953   PMID:22658674   PMID:22715382   PMID:22752307   PMID:22777005   PMID:22833212   PMID:22833523   PMID:22846708   PMID:22850631  
PMID:23071156   PMID:23073801   PMID:23139153   PMID:23180380   PMID:23212915   PMID:23220088   PMID:23325790   PMID:23383273   PMID:23423910   PMID:23443559   PMID:23499891   PMID:23614500  
PMID:23653363   PMID:23667531   PMID:23706919   PMID:23839039   PMID:23887639   PMID:23936352   PMID:23981612   PMID:23990464   PMID:24189400   PMID:24284071   PMID:24371222   PMID:24412473  
PMID:24457600   PMID:24474278   PMID:24498333   PMID:24505377   PMID:24658140   PMID:24711643   PMID:24797263   PMID:24966968   PMID:24995336   PMID:25056061   PMID:25156800   PMID:25273174  
PMID:25402006   PMID:25416956   PMID:25437307   PMID:25468996   PMID:25470111   PMID:25529795   PMID:25609649   PMID:25634213   PMID:25657827   PMID:25693631   PMID:25693804   PMID:25736925  
PMID:25754235   PMID:25785604   PMID:25807484   PMID:25921289   PMID:25963833   PMID:25986488   PMID:26062780   PMID:26067913   PMID:26093522   PMID:26097613   PMID:26217791   PMID:26302406  
PMID:26324182   PMID:26477567   PMID:26496610   PMID:26638075   PMID:26673895   PMID:26707622   PMID:26752685   PMID:26777405   PMID:26926447   PMID:26972000   PMID:26992637   PMID:27146732  
PMID:27193094   PMID:27220534   PMID:27254316   PMID:27316454   PMID:27377895   PMID:27432908   PMID:27516388   PMID:27565611   PMID:27574848   PMID:27609421   PMID:27684187   PMID:27880917  
PMID:28004812   PMID:28051089   PMID:28069439   PMID:28276699   PMID:28295003   PMID:28301459   PMID:28343945   PMID:28380382   PMID:28514442   PMID:28515276   PMID:28611215   PMID:28637905  
PMID:28769046   PMID:28877994   PMID:29207493   PMID:29212245   PMID:29216867   PMID:29229926   PMID:29348693   PMID:29465811   PMID:29467282   PMID:29540532   PMID:29568061   PMID:29588412  
PMID:29805042   PMID:29884807   PMID:29990836   PMID:30021884   PMID:30194290   PMID:30209976   PMID:30249887   PMID:30639242   PMID:30652415   PMID:30711629   PMID:30841025   PMID:30853440  
PMID:30872378   PMID:30948266   PMID:30948508   PMID:30979931   PMID:30997702   PMID:31081718   PMID:31091453   PMID:31107992   PMID:31462741   PMID:31519766   PMID:31586073   PMID:31678930  
PMID:31732153   PMID:31741433   PMID:31874857   PMID:31913290   PMID:31980649   PMID:31991069   PMID:31995728   PMID:32010791   PMID:32062451   PMID:32196547   PMID:32203420   PMID:32296183  
PMID:32313227   PMID:32393764   PMID:32416067   PMID:32594834   PMID:32673685   PMID:32780723   PMID:32905556   PMID:32994395   PMID:33022573   PMID:33112928   PMID:33139779   PMID:33144569  
PMID:33237836   PMID:33525380   PMID:33957083   PMID:34069970   PMID:34079125  


Genomics

Comparative Map Data
CTNND1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1157,753,243 - 57,819,546 (+)EnsemblGRCh38hg38GRCh38
GRCh381157,761,802 - 57,819,540 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371157,529,274 - 57,587,012 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361157,285,810 - 57,343,228 (+)NCBINCBI36hg18NCBI36
Build 341157,285,844 - 57,343,226NCBI
Celera1154,886,498 - 54,943,699 (+)NCBI
Cytogenetic Map11q12.1NCBI
HuRef1153,877,613 - 53,935,179 (+)NCBIHuRef
CHM1_11157,396,253 - 57,453,671 (+)NCBICHM1_1
Ctnnd1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39284,417,440 - 84,489,321 (-)NCBIGRCm39mm39
GRCm39 Ensembl284,430,415 - 84,481,109 (-)Ensembl
GRCm39 Ensembl284,431,783 - 84,508,385 (-)Ensembl
GRCm38284,587,096 - 84,658,977 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl284,600,071 - 84,650,765 (-)EnsemblGRCm38mm10GRCm38
GRCm38.p6 Ensembl284,601,439 - 84,678,041 (-)EnsemblGRCm38mm10GRCm38
MGSCv37284,440,938 - 84,490,897 (-)NCBIGRCm37mm9NCBIm37
MGSCv36284,401,622 - 84,451,512 (-)NCBImm8
Celera286,195,656 - 86,245,817 (-)NCBICelera
Cytogenetic Map2DNCBI
cM Map249.45NCBI
Ctnnd1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.2369,683,328 - 69,734,550 (-)NCBImRatBN7.2
mRatBN7.2 Ensembl369,683,313 - 69,734,516 (-)Ensembl
Rnor_6.0372,001,904 - 72,053,047 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl372,002,152 - 72,053,049 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0378,522,817 - 78,573,692 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4367,809,603 - 67,860,287 (-)NCBIRGSC3.4rn4RGSC3.4
RGSC_v3.1367,705,435 - 67,756,536 (-)NCBI
Celera369,039,896 - 69,090,199 (-)NCBICelera
Cytogenetic Map3q24NCBI
Ctnnd1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555112,658,858 - 2,703,958 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555112,658,879 - 2,705,992 (+)NCBIChiLan1.0ChiLan1.0
CTNND1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11156,470,169 - 56,527,593 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1156,470,174 - 56,527,593 (+)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01153,000,582 - 53,058,054 (+)NCBIMhudiblu_PPA_v0panPan3
CTNND1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11838,415,687 - 38,469,777 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1838,417,701 - 38,462,216 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1837,962,765 - 38,016,771 (-)NCBI
ROS_Cfam_1.01839,097,716 - 39,151,685 (-)NCBI
UMICH_Zoey_3.11838,680,858 - 38,734,838 (-)NCBI
UNSW_CanFamBas_1.01838,254,198 - 38,307,993 (-)NCBI
UU_Cfam_GSD_1.01838,884,472 - 38,938,494 (-)NCBI
Ctnnd1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494714,638,778 - 14,688,432 (-)NCBI
SpeTri2.0NW_0049365814,750,845 - 4,802,262 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
CTNND1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl213,143,939 - 13,209,224 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1213,143,604 - 13,209,251 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2212,789,450 - 12,842,242 (-)NCBISscrofa10.2Sscrofa10.2susScr3
CTNND1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1115,408,581 - 15,466,457 (-)NCBI
ChlSab1.1 Ensembl115,411,454 - 15,466,456 (-)Ensembl
Vero_WHO_p1.0NW_023666038112,759,621 - 112,817,271 (-)NCBI
Ctnnd1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248642,953,357 - 3,000,355 (-)NCBI

Position Markers
GDB:451855  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371928,246,775 - 28,246,904UniSTSGRCh37
GRCh371157,584,421 - 57,584,550UniSTSGRCh37
Build 361157,340,997 - 57,341,126RGDNCBI36
Celera1154,941,468 - 54,941,597RGD
Celera1924,947,027 - 24,947,156UniSTS
Cytogenetic Map11q11UniSTS
HuRef1924,761,067 - 24,761,196UniSTS
HuRef1153,932,948 - 53,933,077UniSTS
D11S4004  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,555,674 - 57,555,827UniSTSGRCh37
Build 361157,312,250 - 57,312,403RGDNCBI36
Celera1154,912,942 - 54,913,095RGD
Cytogenetic Map11q11UniSTS
HuRef1153,904,129 - 53,904,282UniSTS
Whitehead-YAC Contig Map11 UniSTS
RH47458  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,585,644 - 57,585,799UniSTSGRCh37
Build 361157,342,220 - 57,342,375RGDNCBI36
Celera1154,942,691 - 54,942,846RGD
Cytogenetic Map11q11UniSTS
HuRef1153,934,171 - 53,934,326UniSTS
GeneMap99-GB4 RH Map11208.56UniSTS
STS-H97485  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371157,586,403 - 57,586,570UniSTSGRCh37
Build 361157,342,979 - 57,343,146RGDNCBI36
Celera1154,943,450 - 54,943,617RGD
Cytogenetic Map11q11UniSTS
HuRef1153,934,930 - 53,935,097UniSTS
GeneMap99-GB4 RH Map11214.67UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:40741
Count of miRNA genes:1212
Interacting mature miRNAs:1523
Transcripts:ENST00000358694, ENST00000360682, ENST00000361332, ENST00000361391, ENST00000361796, ENST00000399039, ENST00000399050, ENST00000415361, ENST00000426142, ENST00000428599, ENST00000524579, ENST00000524630, ENST00000525821, ENST00000525902, ENST00000526357, ENST00000526772, ENST00000526938, ENST00000527467, ENST00000527599, ENST00000528232, ENST00000528621, ENST00000529526, ENST00000529873, ENST00000529919, ENST00000529986, ENST00000530068, ENST00000530094, ENST00000530720, ENST00000530748, ENST00000531007, ENST00000531014, ENST00000532245, ENST00000532463, ENST00000532649, ENST00000532787, ENST00000532844, ENST00000533189, ENST00000533667, ENST00000534579, ENST00000534647
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.


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 2439 2196 1719 621 1040 462 4232 2019 3421 418 1460 1606 175 1 1204 2663 6 2
Low 787 7 3 903 3 125 178 313 1 7 125
Below cutoff 8 8

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_029078 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085458 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085459 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085460 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085461 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085462 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085464 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085465 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085466 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085467 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085468 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001085469 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206883 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206884 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206885 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206886 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206887 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206890 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001206891 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF062317 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062318 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062319 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062320 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062321 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062322 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062324 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062325 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062326 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062329 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062331 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062332 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062335 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062337 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062338 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062339 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062340 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062341 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062342 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF062344 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI079200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI088791 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292554 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL698868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001931 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY505564 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC010501 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC075795 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP217375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CN431494 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR749275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB090596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000358694   ⟹   ENSP00000351527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000361332   ⟹   ENSP00000354823
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000361391   ⟹   ENSP00000354785
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000361796   ⟹   ENSP00000354907
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000399050   ⟹   ENSP00000382004
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,802 - 57,819,540 (+)Ensembl
RefSeq Acc Id: ENST00000415361   ⟹   ENSP00000403518
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000426142   ⟹   ENSP00000409930
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000428599   ⟹   ENSP00000413586
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000524630   ⟹   ENSP00000436543
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,753,243 - 57,819,546 (+)Ensembl
RefSeq Acc Id: ENST00000525821
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,812,228 - 57,816,509 (+)Ensembl
RefSeq Acc Id: ENST00000525902   ⟹   ENSP00000434672
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000526357   ⟹   ENSP00000433334
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000526772   ⟹   ENSP00000433158
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000526938   ⟹   ENSP00000432041
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,818 - 57,816,717 (+)Ensembl
RefSeq Acc Id: ENST00000527467   ⟹   ENSP00000434900
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000527599
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,801,995 - 57,803,990 (+)Ensembl
RefSeq Acc Id: ENST00000528232   ⟹   ENSP00000435266
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000528621   ⟹   ENSP00000432243
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000529526   ⟹   ENSP00000436323
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000529873   ⟹   ENSP00000435494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000529919   ⟹   ENSP00000434808
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,753,290 - 57,817,940 (+)Ensembl
RefSeq Acc Id: ENST00000529986   ⟹   ENSP00000437156
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000530068   ⟹   ENSP00000431600
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,781,603 - 57,796,584 (+)Ensembl
RefSeq Acc Id: ENST00000530094   ⟹   ENSP00000437327
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000530720
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,542 - 57,816,214 (+)Ensembl
RefSeq Acc Id: ENST00000530748   ⟹   ENSP00000436744
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000531007   ⟹   ENSP00000431208
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,832 - 57,818,387 (+)Ensembl
RefSeq Acc Id: ENST00000531014   ⟹   ENSP00000432623
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000532245   ⟹   ENSP00000434017
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000532463   ⟹   ENSP00000432075
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000532649   ⟹   ENSP00000435379
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000532787   ⟹   ENSP00000434949
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000532844   ⟹   ENSP00000433276
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000533189   ⟹   ENSP00000435242
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,753,302 - 57,802,124 (+)Ensembl
RefSeq Acc Id: ENST00000533667   ⟹   ENSP00000437051
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,797 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000534579   ⟹   ENSP00000435789
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,801 - 57,819,178 (+)Ensembl
RefSeq Acc Id: ENST00000673661
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,800,284 - 57,818,431 (+)Ensembl
RefSeq Acc Id: ENST00000673683   ⟹   ENSP00000500962
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,762,117 - 57,818,431 (+)Ensembl
RefSeq Acc Id: ENST00000673826   ⟹   ENSP00000501029
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,864 - 57,818,432 (+)Ensembl
RefSeq Acc Id: ENST00000674015   ⟹   ENSP00000501126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,832 - 57,818,169 (+)Ensembl
RefSeq Acc Id: ENST00000674106   ⟹   ENSP00000501005
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,763,853 - 57,818,430 (+)Ensembl
RefSeq Acc Id: ENST00000681984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,793,546 - 57,819,163 (+)Ensembl
RefSeq Acc Id: ENST00000682621   ⟹   ENSP00000507559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,541 - 57,818,445 (+)Ensembl
RefSeq Acc Id: ENST00000682741
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,761,789 - 57,819,163 (+)Ensembl
RefSeq Acc Id: ENST00000682814
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,793,386 - 57,797,163 (+)Ensembl
RefSeq Acc Id: ENST00000682974
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,542 - 57,819,161 (+)Ensembl
RefSeq Acc Id: ENST00000683201   ⟹   ENSP00000507126
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,541 - 57,818,445 (+)Ensembl
RefSeq Acc Id: ENST00000683510
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,542 - 57,818,445 (+)Ensembl
RefSeq Acc Id: ENST00000683769   ⟹   ENSP00000507732
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,542 - 57,818,443 (+)Ensembl
RefSeq Acc Id: ENST00000683906
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,800,024 - 57,819,163 (+)Ensembl
RefSeq Acc Id: ENST00000684035
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,805,542 - 57,818,446 (+)Ensembl
RefSeq Acc Id: ENST00000684704
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1157,806,254 - 57,818,058 (+)Ensembl
RefSeq Acc Id: NM_001085458   ⟹   NP_001078927
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085459   ⟹   NP_001078928
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085460   ⟹   NP_001078929
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085461   ⟹   NP_001078930
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085462   ⟹   NP_001078931
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085463   ⟹   NP_001078932
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085464   ⟹   NP_001078933
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085465   ⟹   NP_001078934
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085466   ⟹   NP_001078935
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085467   ⟹   NP_001078936
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085468   ⟹   NP_001078937
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001085469   ⟹   NP_001078938
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206883   ⟹   NP_001193812
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206884   ⟹   NP_001193813
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206885   ⟹   NP_001193814
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206886   ⟹   NP_001193815
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206887   ⟹   NP_001193816
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206888   ⟹   NP_001193817
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206889   ⟹   NP_001193818
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206890   ⟹   NP_001193819
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001206891   ⟹   NP_001193820
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001331   ⟹   NP_001322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,802 - 57,819,540 (+)NCBI
GRCh371157,520,756 - 57,586,652 (+)NCBI
Build 361157,285,810 - 57,343,228 (+)NCBI Archive
HuRef1153,877,613 - 53,935,179 (+)ENTREZGENE
CHM1_11157,396,253 - 57,453,671 (+)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001078927 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078928 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078929 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078930 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078931 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078932 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078933 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078934 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078935 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078936 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078937 (Get FASTA)   NCBI Sequence Viewer  
  NP_001078938 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193812 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193813 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193814 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193815 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193816 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193817 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193818 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193819 (Get FASTA)   NCBI Sequence Viewer  
  NP_001193820 (Get FASTA)   NCBI Sequence Viewer  
  NP_001322 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAC39802 (Get FASTA)   NCBI Sequence Viewer  
  AAC39803 (Get FASTA)   NCBI Sequence Viewer  
  AAC39804 (Get FASTA)   NCBI Sequence Viewer  
  AAC39805 (Get FASTA)   NCBI Sequence Viewer  
  AAC39806 (Get FASTA)   NCBI Sequence Viewer  
  AAC39807 (Get FASTA)   NCBI Sequence Viewer  
  AAC39808 (Get FASTA)   NCBI Sequence Viewer  
  AAC39809 (Get FASTA)   NCBI Sequence Viewer  
  AAC39810 (Get FASTA)   NCBI Sequence Viewer  
  AAC39811 (Get FASTA)   NCBI Sequence Viewer  
  AAC39812 (Get FASTA)   NCBI Sequence Viewer  
  AAC39813 (Get FASTA)   NCBI Sequence Viewer  
  AAC39814 (Get FASTA)   NCBI Sequence Viewer  
  AAC39815 (Get FASTA)   NCBI Sequence Viewer  
  AAC39816 (Get FASTA)   NCBI Sequence Viewer  
  AAC39817 (Get FASTA)   NCBI Sequence Viewer  
  AAC39818 (Get FASTA)   NCBI Sequence Viewer  
  AAC39819 (Get FASTA)   NCBI Sequence Viewer  
  AAC39820 (Get FASTA)   NCBI Sequence Viewer  
  AAC39821 (Get FASTA)   NCBI Sequence Viewer  
  AAC39822 (Get FASTA)   NCBI Sequence Viewer  
  AAC39823 (Get FASTA)   NCBI Sequence Viewer  
  AAC39824 (Get FASTA)   NCBI Sequence Viewer  
  AAC39825 (Get FASTA)   NCBI Sequence Viewer  
  AAC39826 (Get FASTA)   NCBI Sequence Viewer  
  AAC39827 (Get FASTA)   NCBI Sequence Viewer  
  AAC39828 (Get FASTA)   NCBI Sequence Viewer  
  AAC39829 (Get FASTA)   NCBI Sequence Viewer  
  AAH10501 (Get FASTA)   NCBI Sequence Viewer  
  AAH75795 (Get FASTA)   NCBI Sequence Viewer  
  AAP35997 (Get FASTA)   NCBI Sequence Viewer  
  AAR84236 (Get FASTA)   NCBI Sequence Viewer  
  BAF85243 (Get FASTA)   NCBI Sequence Viewer  
  CAH18130 (Get FASTA)   NCBI Sequence Viewer  
  EAW73785 (Get FASTA)   NCBI Sequence Viewer  
  EAW73786 (Get FASTA)   NCBI Sequence Viewer  
  EAW73787 (Get FASTA)   NCBI Sequence Viewer  
  EAW73788 (Get FASTA)   NCBI Sequence Viewer  
  EAW73789 (Get FASTA)   NCBI Sequence Viewer  
  EAW73790 (Get FASTA)   NCBI Sequence Viewer  
  EAW73791 (Get FASTA)   NCBI Sequence Viewer  
  EAW73792 (Get FASTA)   NCBI Sequence Viewer  
  O60716 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001078927   ⟸   NM_001085458
- Peptide Label: isoform 1ABC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193814   ⟸   NM_001206885
- Peptide Label: isoform 1AC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078928   ⟸   NM_001085459
- Peptide Label: isoform 1AB
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078930   ⟸   NM_001085461
- Peptide Label: isoform 1A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001322   ⟸   NM_001331
- Peptide Label: isoform 1B
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193820   ⟸   NM_001206891
- Peptide Label: isoform 2A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078936   ⟸   NM_001085467
- Peptide Label: isoform 3A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193819   ⟸   NM_001206890
- Peptide Label: isoform 3A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078929   ⟸   NM_001085460
- Peptide Label: isoform 1A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193818   ⟸   NM_001206889
- Peptide Label: isoform 2A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078931   ⟸   NM_001085462
- Peptide Label: isoform 1A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193812   ⟸   NM_001206883
- Peptide Label: isoform 2ABC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193813   ⟸   NM_001206884
- Peptide Label: isoform 2AC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193815   ⟸   NM_001206886
- Peptide Label: isoform 2AB
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193817   ⟸   NM_001206888
- Peptide Label: isoform 2A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001193816   ⟸   NM_001206887
- Peptide Label: isoform 2B
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078932   ⟸   NM_001085463
- Peptide Label: isoform 3ABC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078935   ⟸   NM_001085466
- Peptide Label: isoform 3AC
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078933   ⟸   NM_001085464
- Peptide Label: isoform 3AB
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078937   ⟸   NM_001085468
- Peptide Label: isoform 3A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078934   ⟸   NM_001085465
- Peptide Label: isoform 3B
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001078938   ⟸   NM_001085469
- Peptide Label: isoform 3A
- UniProtKB: O60716 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000501029   ⟸   ENST00000673826
RefSeq Acc Id: ENSP00000500962   ⟸   ENST00000673683
RefSeq Acc Id: ENSP00000501005   ⟸   ENST00000674106
RefSeq Acc Id: ENSP00000382004   ⟸   ENST00000399050
RefSeq Acc Id: ENSP00000501126   ⟸   ENST00000674015
RefSeq Acc Id: ENSP00000409930   ⟸   ENST00000426142
RefSeq Acc Id: ENSP00000436744   ⟸   ENST00000530748
RefSeq Acc Id: ENSP00000431600   ⟸   ENST00000530068
RefSeq Acc Id: ENSP00000437327   ⟸   ENST00000530094
RefSeq Acc Id: ENSP00000431208   ⟸   ENST00000531007
RefSeq Acc Id: ENSP00000432623   ⟸   ENST00000531014
RefSeq Acc Id: ENSP00000413586   ⟸   ENST00000428599
RefSeq Acc Id: ENSP00000354823   ⟸   ENST00000361332
RefSeq Acc Id: ENSP00000354785   ⟸   ENST00000361391
RefSeq Acc Id: ENSP00000354907   ⟸   ENST00000361796
RefSeq Acc Id: ENSP00000432075   ⟸   ENST00000532463
RefSeq Acc Id: ENSP00000434017   ⟸   ENST00000532245
RefSeq Acc Id: ENSP00000433276   ⟸   ENST00000532844
RefSeq Acc Id: ENSP00000434949   ⟸   ENST00000532787
RefSeq Acc Id: ENSP00000435379   ⟸   ENST00000532649
RefSeq Acc Id: ENSP00000435242   ⟸   ENST00000533189
RefSeq Acc Id: ENSP00000403518   ⟸   ENST00000415361
RefSeq Acc Id: ENSP00000437051   ⟸   ENST00000533667
RefSeq Acc Id: ENSP00000435789   ⟸   ENST00000534579
RefSeq Acc Id: ENSP00000436543   ⟸   ENST00000524630
RefSeq Acc Id: ENSP00000434672   ⟸   ENST00000525902
RefSeq Acc Id: ENSP00000433334   ⟸   ENST00000526357
RefSeq Acc Id: ENSP00000432041   ⟸   ENST00000526938
RefSeq Acc Id: ENSP00000433158   ⟸   ENST00000526772
RefSeq Acc Id: ENSP00000434900   ⟸   ENST00000527467
RefSeq Acc Id: ENSP00000435266   ⟸   ENST00000528232
RefSeq Acc Id: ENSP00000432243   ⟸   ENST00000528621
RefSeq Acc Id: ENSP00000436323   ⟸   ENST00000529526
RefSeq Acc Id: ENSP00000434808   ⟸   ENST00000529919
RefSeq Acc Id: ENSP00000437156   ⟸   ENST00000529986
RefSeq Acc Id: ENSP00000435494   ⟸   ENST00000529873
RefSeq Acc Id: ENSP00000351527   ⟸   ENST00000358694
RefSeq Acc Id: ENSP00000507559   ⟸   ENST00000682621
RefSeq Acc Id: ENSP00000507126   ⟸   ENST00000683201
RefSeq Acc Id: ENSP00000507732   ⟸   ENST00000683769

Promoters
RGD ID:6788651
Promoter ID:HG_KWN:12946
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:NB4
Transcripts:UC001NLH.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361157,277,016 - 57,277,516 (+)MPROMDB
RGD ID:6788653
Promoter ID:HG_KWN:12947
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000358694,   ENST00000360682,   ENST00000361391,   ENST00000399039,   ENST00000399050,   NM_001085458,   NM_001085459,   NM_001085460,   NM_001085461,   NM_001085462,   NM_001085463,   NM_001085464,   NM_001085465,   NM_001085466,   NM_001085467,   NM_001085468,   NM_001085469,   NM_001331,   UC001NLJ.2,   UC001NLK.2,   UC001NLL.2,   UC001NLP.2,   UC001NLR.2,   UC001NLV.2,   UC001NLX.2,   UC001NLY.2,   UC001NLZ.2,   UC001NMA.2,   UC001NMB.2,   UC001NMD.2,   UC001NMF.2,   UC001NMG.2,   UC009YMN.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361157,285,644 - 57,286,144 (+)MPROMDB
RGD ID:7220375
Promoter ID:EPDNEW_H15934
Type:multiple initiation site
Name:CTNND1_4
Description:catenin delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15936  EPDNEW_H15935  EPDNEW_H15937  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,753,301 - 57,753,361EPDNEW
RGD ID:7220381
Promoter ID:EPDNEW_H15935
Type:initiation region
Name:CTNND1_1
Description:catenin delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15934  EPDNEW_H15936  EPDNEW_H15937  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,761,807 - 57,761,867EPDNEW
RGD ID:7220379
Promoter ID:EPDNEW_H15936
Type:initiation region
Name:CTNND1_3
Description:catenin delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15934  EPDNEW_H15935  EPDNEW_H15937  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,763,826 - 57,763,886EPDNEW
RGD ID:7220385
Promoter ID:EPDNEW_H15937
Type:initiation region
Name:CTNND1_2
Description:catenin delta 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H15934  EPDNEW_H15936  EPDNEW_H15935  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381157,791,543 - 57,791,603EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh38/hg38 11q12.1(chr11:57372226-57936167)x3 copy number gain See cases [RCV000051908] Chr11:57372226..57936167 [GRCh38]
Chr11:57139699..57703639 [GRCh37]
Chr11:56896275..57460215 [NCBI36]
Chr11:11q12.1
uncertain significance
NM_001085458.1(CTNND1):c.-214+9898G>T single nucleotide variant Lung cancer [RCV000110162] Chr11:57772017 [GRCh38]
Chr11:57539489 [GRCh37]
Chr11:11q12.1
uncertain significance
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 copy number gain See cases [RCV000142757] Chr11:55319519..58998777 [GRCh38]
Chr11:55086995..58766250 [GRCh37]
Chr11:54843571..58522826 [NCBI36]
Chr11:11q11-12.1
pathogenic
NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter) single nucleotide variant Blepharocheilodontic syndrome 2 [RCV000505713] Chr11:57808396 [GRCh38]
Chr11:57575868 [GRCh37]
Chr11:11q12.1
pathogenic
NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter) single nucleotide variant Blepharocheilodontic syndrome 2 [RCV000505753] Chr11:57801869 [GRCh38]
Chr11:57569341 [GRCh37]
Chr11:11q12.1
pathogenic
NM_001085458.2(CTNND1):c.606del (p.Pro203fs) deletion Blepharocheilodontic syndrome 2 [RCV000505783] Chr11:57796641 [GRCh38]
Chr11:57564113 [GRCh37]
Chr11:11q12.1
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_001085458.2(CTNND1):c.1088G>A (p.Trp363Ter) single nucleotide variant not provided [RCV000627330] Chr11:57801864 [GRCh38]
Chr11:57569336 [GRCh37]
Chr11:11q12.1
pathogenic
GRCh37/hg19 11p11.12-q12.1(chr11:49313405-59008426)x3 copy number gain not provided [RCV000683370] Chr11:49313405..59008426 [GRCh37]
Chr11:11p11.12-q12.1
uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q12.1(chr11:57147016-57667222)x3 copy number gain not provided [RCV000750056] Chr11:57147016..57667222 [GRCh37]
Chr11:11q12.1
benign
GRCh37/hg19 11q12.1(chr11:57306011-57669349)x3 copy number gain not provided [RCV000750057] Chr11:57306011..57669349 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.937_938del (p.Asp313fs) deletion Cleft lip with or without cleft palate [RCV001034558] Chr11:57796973..57796974 [GRCh38]
Chr11:57564445..57564446 [GRCh37]
Chr11:11q12.1
pathogenic
NM_001085458.2(CTNND1):c.1721A>G (p.Lys574Arg) single nucleotide variant Cleft lip with or without cleft palate [RCV001034565] Chr11:57804779 [GRCh38]
Chr11:57572251 [GRCh37]
Chr11:11q12.1
uncertain significance
NM_001085458.2(CTNND1):c.1687C>G (p.Gln563Glu) single nucleotide variant Cleft lip with or without cleft palate [RCV001034566] Chr11:57804745 [GRCh38]
Chr11:57572217 [GRCh37]
Chr11:11q12.1
uncertain significance
NM_001085458.2(CTNND1):c.2642A>C (p.Lys881Thr) single nucleotide variant not provided [RCV000967204] Chr11:57814314 [GRCh38]
Chr11:57581786 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.1390C>T (p.Arg464Cys) single nucleotide variant not provided [RCV000968214] Chr11:57802166 [GRCh38]
Chr11:57569638 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.1537A>G (p.Asn513Asp) single nucleotide variant not provided [RCV000898586] Chr11:57803737 [GRCh38]
Chr11:57571209 [GRCh37]
Chr11:11q12.1
likely benign
NM_001085458.2(CTNND1):c.257A>G (p.Asn86Ser) single nucleotide variant not provided [RCV000896134] Chr11:57794071 [GRCh38]
Chr11:57561543 [GRCh37]
Chr11:11q12.1
likely benign
NM_001085458.2(CTNND1):c.2760G>A (p.Ser920=) single nucleotide variant not provided [RCV000954636] Chr11:57815452 [GRCh38]
Chr11:57582924 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.1750C>T (p.Arg584Trp) single nucleotide variant Cleft lip with or without cleft palate [RCV001034562] Chr11:57805909 [GRCh38]
Chr11:57573381 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.1496A>G (p.Asp499Gly) single nucleotide variant Cleft lip with or without cleft palate [RCV001034560] Chr11:57803696 [GRCh38]
Chr11:57571168 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.2088G>T (p.Trp696Cys) single nucleotide variant Cleft lip with or without cleft palate [RCV001034563] Chr11:57808289 [GRCh38]
Chr11:57575761 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.1687C>T (p.Gln563Ter) single nucleotide variant Blepharocheilodontic syndrome 2 [RCV001198014] Chr11:57804745 [GRCh38]
Chr11:57572217 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.2709C>T (p.Asn903=) single nucleotide variant not provided [RCV000883748] Chr11:57815401 [GRCh38]
Chr11:57582873 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.738A>G (p.Glu246=) single nucleotide variant not provided [RCV000959060] Chr11:57796774 [GRCh38]
Chr11:57564246 [GRCh37]
Chr11:11q12.1
benign
NM_001085458.2(CTNND1):c.2412G>A (p.Lys804=) single nucleotide variant not provided [RCV000929327] Chr11:57809443 [GRCh38]
Chr11:57576915 [GRCh37]
Chr11:11q12.1
likely benign
NM_001085458.2(CTNND1):c.1672C>T (p.Leu558Phe) single nucleotide variant Cleft lip with or without cleft palate [RCV001034561] Chr11:57804730 [GRCh38]
Chr11:57572202 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.55C>G (p.Gln19Glu) single nucleotide variant Cleft lip with or without cleft palate [RCV001034564] Chr11:57791533 [GRCh38]
Chr11:57559005 [GRCh37]
Chr11:11q12.1
likely pathogenic
NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter) single nucleotide variant Blepharocheilodontic syndrome 2 [RCV000985038]|Cleft lip with or without cleft palate [RCV001034557] Chr11:57811420 [GRCh38]
Chr11:57578892 [GRCh37]
Chr11:11q12.1
pathogenic|likely pathogenic
NM_001085458.2(CTNND1):c.155A>G (p.Asn52Ser) single nucleotide variant not provided [RCV000889834] Chr11:57791633 [GRCh38]
Chr11:57559105 [GRCh37]
Chr11:11q12.1
likely benign
NM_001085458.2(CTNND1):c.2435+1G>T single nucleotide variant Cleft lip with or without cleft palate [RCV001034559] Chr11:57809467 [GRCh38]
Chr11:57576939 [GRCh37]
Chr11:11q12.1
pathogenic
NM_001085458.2(CTNND1):c.1949C>T (p.Thr650Met) single nucleotide variant not provided [RCV001528955] Chr11:57806969 [GRCh38]
Chr11:57574441 [GRCh37]
Chr11:11q12.1
uncertain significance
NM_001085458.2(CTNND1):c.1007G>A (p.Trp336Ter) single nucleotide variant Cleft lip with or without cleft palate [RCV001034556] Chr11:57801783 [GRCh38]
Chr11:57569255 [GRCh37]
Chr11:11q12.1
pathogenic
NM_001085458.2:c.2572C>T single nucleotide variant Blepharocheilodontic syndrome 2 [RCV001261195]   likely pathogenic
NM_001085458.2(CTNND1):c.1186C>G (p.Arg396Gly) single nucleotide variant Blepharocheilodontic syndrome 2 [RCV001332801] Chr11:57801962 [GRCh38]
Chr11:57569434 [GRCh37]
Chr11:11q12.1
uncertain significance
NM_001085458.2(CTNND1):c.2318A>G (p.Asp773Gly) single nucleotide variant not provided [RCV001354836] Chr11:57809349 [GRCh38]
Chr11:57576821 [GRCh37]
Chr11:11q12.1
uncertain significance
NM_001085458.2(CTNND1):c.2224C>T (p.Arg742Cys) single nucleotide variant not provided [RCV001357720] Chr11:57808522 [GRCh38]
Chr11:57575994 [GRCh37]
Chr11:11q12.1
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NC_000011.9:g.(?_57558951)_(57583780_?)del deletion not provided [RCV001387478] Chr11:57558951..57583780 [GRCh37]
Chr11:11q12.1
pathogenic
NC_000011.9:g.(?_57471510)_(57564464_?)del deletion not provided [RCV001387479] Chr11:57471510..57564464 [GRCh37]
Chr11:11q12.1
pathogenic

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:2515 AgrOrtholog
COSMIC CTNND1 COSMIC
Ensembl Genes ENSG00000198561 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000351527 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354785 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354823 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000354907 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000382004 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000403518 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000409930 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000413586 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000431208 UniProtKB/TrEMBL
  ENSP00000431600 UniProtKB/TrEMBL
  ENSP00000432041 UniProtKB/Swiss-Prot
  ENSP00000432075 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432243 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000432623 UniProtKB/Swiss-Prot
  ENSP00000433158 UniProtKB/Swiss-Prot
  ENSP00000433276 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000433334 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434017 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000434672 UniProtKB/Swiss-Prot
  ENSP00000434808 UniProtKB/TrEMBL
  ENSP00000434900 UniProtKB/Swiss-Prot
  ENSP00000434949 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435242 UniProtKB/TrEMBL
  ENSP00000435266 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435379 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435494 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000435789 UniProtKB/Swiss-Prot
  ENSP00000436323 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000436543 UniProtKB/Swiss-Prot
  ENSP00000436744 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437051 UniProtKB/Swiss-Prot
  ENSP00000437156 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000437327 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000500962 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000501005 UniProtKB/TrEMBL
  ENSP00000501029 UniProtKB/TrEMBL
  ENSP00000501126 UniProtKB/TrEMBL
Ensembl Transcript ENST00000358694 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361332 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361391 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000361796 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000399050 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000415361 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000426142 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000428599 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000524630 UniProtKB/Swiss-Prot
  ENST00000525902 UniProtKB/Swiss-Prot
  ENST00000526357 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000526772 UniProtKB/Swiss-Prot
  ENST00000526938 UniProtKB/Swiss-Prot
  ENST00000527467 UniProtKB/Swiss-Prot
  ENST00000528232 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000528621 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529526 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529873 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000529919 UniProtKB/TrEMBL
  ENST00000529986 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530068 UniProtKB/TrEMBL
  ENST00000530094 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000530748 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000531007 UniProtKB/TrEMBL
  ENST00000531014 UniProtKB/Swiss-Prot
  ENST00000532245 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532463 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532649 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532787 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000532844 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000533189 UniProtKB/TrEMBL
  ENST00000533667 UniProtKB/Swiss-Prot
  ENST00000534579 UniProtKB/Swiss-Prot
  ENST00000673683 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000673826 UniProtKB/TrEMBL
  ENST00000674015 UniProtKB/TrEMBL
  ENST00000674106 UniProtKB/TrEMBL
Gene3D-CATH 1.25.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000198561 GTEx
HGNC ID HGNC:2515 ENTREZGENE
Human Proteome Map CTNND1 Human Proteome Map
InterPro ARM-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ARM-type_fold UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Armadillo UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Catenin_d1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Plakophilin/d_Catenin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1500 UniProtKB/Swiss-Prot
NCBI Gene 1500 ENTREZGENE
OMIM 601045 OMIM
  617681 OMIM
PANTHER PTHR10372 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10372:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Arm UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB CTNND1 RGD, PharmGKB
PROSITE ARM_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ARM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48371 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R4Y7_HUMAN UniProtKB/TrEMBL
  A0A024R4Z0_HUMAN UniProtKB/TrEMBL
  A0A669KB05_HUMAN UniProtKB/TrEMBL
  A0A669KB62_HUMAN UniProtKB/TrEMBL
  C9JZR2_HUMAN UniProtKB/TrEMBL
  CTND1_HUMAN UniProtKB/Swiss-Prot
  E9PKL1_HUMAN UniProtKB/TrEMBL
  E9PKY0_HUMAN UniProtKB/TrEMBL
  H0YC95_HUMAN UniProtKB/TrEMBL
  O60716 ENTREZGENE
  Q96FS1_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K939 UniProtKB/Swiss-Prot
  E9PN49 UniProtKB/TrEMBL
  O15088 UniProtKB/Swiss-Prot
  O60713 UniProtKB/Swiss-Prot
  O60714 UniProtKB/Swiss-Prot
  O60715 UniProtKB/Swiss-Prot
  O60935 UniProtKB/Swiss-Prot
  Q6DHZ7 UniProtKB/Swiss-Prot
  Q6RBX8 UniProtKB/Swiss-Prot
  Q9UP71 UniProtKB/Swiss-Prot
  Q9UP72 UniProtKB/Swiss-Prot
  Q9UP73 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2015-11-24 CTNND1  catenin delta 1    catenin (cadherin-associated protein), delta 1  Symbol and/or name change 5135510 APPROVED