CDH1 (cadherin 1)

Gene

• Entrez ID: 999
• Gene name: Cadherin 1
• Gene symbol: CDH1
• Synonyms: Arc-1, BCDS1, CD324, CDHE, ECAD, LCAM, UVO
• Chromosome: 16
• Chromosome location: 16q22.1
• Summary: This gene encodes a classical cadherin of the cadherin superfamily. Alternative splicing results in multiple transcript variants, at least one of which encodes a preproprotein that is proteolytically processed to generate the mature glycoprotein. This calcium-dependent cell-cell adhesion protein is comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function of this gene is thought to contribute to cancer progression by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. This gene is present in a gene cluster with other members of the cadherin family on chromosome 16. [provided by RefSeq, Nov 2015]

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs16260	C>A	Risk-factor	Upstream transcript variant
rs33935154	G>A,T	Benign, pathogenic, benign-likely-benign, uncertain-significance	5 prime UTR variant, missense variant, coding sequence variant
rs34507583	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs35572355	G>A,C,T	Conflicting-interpretations-of-pathogenicity, benign, likely-benign, uncertain-significance, likely-pathogenic	Missense variant, coding sequence variant
rs35606263	G>A,C	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs36087757	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs61747631	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, missense variant, coding sequence variant
rs111662525	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	5 prime UTR variant, coding sequence variant, missense variant
rs113055163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Intron variant
rs113583899	G>C	Likely-pathogenic	Intron variant, splice acceptor variant
rs116093741	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, uncertain-significance, benign-likely-benign	5 prime UTR variant, coding sequence variant, missense variant
rs121964871	C>G	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs121964872	A>G	Conflicting-interpretations-of-pathogenicity, likely-benign, pathogenic	Coding sequence variant, missense variant
rs121964873	G>A,T	Likely-pathogenic, uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs121964874	C>A,G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant
rs121964875	G>A,C	Uncertain-significance, pathogenic	5 prime UTR variant, missense variant, coding sequence variant, stop gained
rs121964876	G>A,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs121964877	C>G,T	Uncertain-significance, pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs121964878	C>T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, missense variant
rs142498771	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs142822590	G>A	Conflicting-interpretations-of-pathogenicity, benign, uncertain-significance, likely-benign, benign-likely-benign	Coding sequence variant, 5 prime UTR variant, missense variant
rs149127230	G>A,C,T	Uncertain-significance, benign, likely-pathogenic, likely-benign, benign-likely-benign	Coding sequence variant, stop gained, missense variant
rs187862045	C>G,T	Likely-pathogenic, likely-benign, uncertain-significance	Synonymous variant, missense variant, 5 prime UTR variant, coding sequence variant, intron variant
rs200894246	G>A	Benign-likely-benign, likely-benign, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs200911775	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs201141645	A>C,G	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs201223411	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	3 prime UTR variant
rs201511530	G>A,T	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, 5 prime UTR variant
rs201637081	A>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs267606712	G>A,T	Likely-pathogenic, pathogenic	Missense variant, coding sequence variant, synonymous variant, 5 prime UTR variant
rs372838203	G>A	Likely-benign, not-provided, benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, intron variant, 5 prime UTR variant
rs372989292	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs570930882	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant, coding sequence variant, missense variant, 5 prime UTR variant
rs587776398	T>C,G	Likely-benign, pathogenic	Stop gained, synonymous variant, 5 prime UTR variant, coding sequence variant
rs587776399	T>G	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs587778174	T>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, 5 prime UTR variant, coding sequence variant
rs587780112	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs587780113	G>A,C,T	Pathogenic	Splice donor variant
rs587780114	C>G	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587780117	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign, benign-likely-benign, benign	Missense variant, 5 prime UTR variant, coding sequence variant
rs587780118	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs587780119	A>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign, uncertain-significance	Missense variant, synonymous variant, coding sequence variant
rs587780537	G>A	Pathogenic-likely-pathogenic, conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, 5 prime UTR variant, coding sequence variant
rs587780784	C>G,T	Uncertain-significance, pathogenic	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs587780787	G>A,T	Pathogenic-likely-pathogenic, uncertain-significance, pathogenic	Missense variant, stop gained, coding sequence variant
rs587781276	TG>-	Pathogenic	Inframe indel, stop gained, coding sequence variant
rs587781290	->A	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs587781919	G>A,C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Splice donor variant
rs587782381	C>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, intron variant, coding sequence variant
rs587782549	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs587782647	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs587782750	C>T	Likely-pathogenic, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587782757	CTT>-	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs587782798	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, intron variant
rs587782810	GTAA>-	Uncertain-significance, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs587783047	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs587783048	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs587783050	G>A,T	Likely-pathogenic, pathogenic	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs730881653	->T	Pathogenic	Frameshift variant, coding sequence variant
rs730881663	C>A	Likely-pathogenic, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs746481984	C>G,T	Uncertain-significance, likely-pathogenic, pathogenic	Missense variant, intron variant, coding sequence variant
rs747783435	C>G,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant
rs748086082	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs750651204	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Intron variant
rs754143182	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Synonymous variant, 5 prime UTR variant, coding sequence variant
rs759380419	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs771085839	G>C	Likely-pathogenic	Splice acceptor variant
rs774761552	C>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs776805501	A>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, intron variant, synonymous variant
rs776890776	A>C,G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, intron variant, missense variant
rs778871891	G>C,T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs781317341	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs781409616	C>T	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs781513008	G>A	Uncertain-significance, likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, missense variant
rs781633588	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs786201045	AG>-	Pathogenic	Coding sequence variant, splice acceptor variant, 5 prime UTR variant
rs786201058	G>A,C,T	Uncertain-significance, likely-pathogenic, pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant, missense variant
rs786201463	C>G	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, 5 prime UTR variant, synonymous variant
rs786201861	G>A	Uncertain-significance, likely-pathogenic	Intron variant
rs786202033	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs786202151	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs786202290	G>A	Likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs786202712	C>G,T	Uncertain-significance, likely-pathogenic	Coding sequence variant, intron variant, missense variant
rs786202785	G>A,T	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs786202817	T>C	Likely-pathogenic	Splice donor variant
rs786203089	TAAGGG>-	Pathogenic, likely-pathogenic	Splice donor variant, intron variant, coding sequence variant
rs786203576	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs786203752	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs864622655	A>-	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant
rs869312765	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876658261	CGAGGAC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876658575	C>T	Pathogenic	Stop gained, coding sequence variant
rs876658865	CCC>T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876658932	C>G,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs876658944	T>A,C	Pathogenic, likely-benign	Synonymous variant, stop gained, coding sequence variant
rs876659208	AG>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876659446	G>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant
rs876659503	G>A,C,T	Pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs876659716	T>A,C	Pathogenic, likely-benign	Stop gained, synonymous variant, intron variant, coding sequence variant
rs876660393	A>G	Likely-pathogenic	Splice acceptor variant
rs876660771	G>A	Pathogenic, likely-pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs876661091	G>A	Likely-pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs876661106	A>G,T	Pathogenic, likely-pathogenic, uncertain-significance	Missense variant, stop gained, 5 prime UTR variant, coding sequence variant
rs876661107	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs876661118	->C	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs876661120	T>C	Pathogenic	Splice donor variant
rs878854690	G>-,GG	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs878854691	G>A	Pathogenic	Missense variant, initiator codon variant, 5 prime UTR variant
rs878854697	G>A,T	Pathogenic, likely-pathogenic	Splice donor variant
rs886037822	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant, intron variant
rs886039590	G>A,C	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, intron variant, coding sequence variant
rs886039612	CTAC>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs886039685	G>C	Pathogenic	Splice donor variant, 5 prime UTR variant, intron variant
rs886041161	G>A,C	Pathogenic, likely-pathogenic	Splice donor variant, intron variant
rs971882211	G>C,T	Uncertain-significance, pathogenic-likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained, missense variant
rs1057517542	G>A	Likely-pathogenic, pathogenic-likely-pathogenic	Splice acceptor variant
rs1057522088	T>C	Likely-benign, conflicting-interpretations-of-pathogenicity	Intron variant
rs1060501214	TC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060501215	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060501224	AC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1060501226	A>G	Pathogenic	Splice acceptor variant
rs1060501229	A>G	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	5 prime UTR variant, coding sequence variant, synonymous variant
rs1060501237	T>C	Likely-pathogenic	Splice donor variant
rs1060501244	G>A,T	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, missense variant
rs1060501248	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1064794230	C>A,G	Uncertain-significance, pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant, missense variant
rs1064795267	G>-	Pathogenic	Splice donor variant
rs1064795703	C>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690808	G>A,T	Likely-pathogenic, pathogenic	Splice donor variant
rs1131690809	T>-	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690810	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1131690811	->TA	Pathogenic	Frameshift variant, 5 prime UTR variant, intron variant, coding sequence variant
rs1131690812	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690813	C>T	Pathogenic	Stop gained, coding sequence variant
rs1131690815	CAGAAGA>-,CAGAAGACAGAAGA	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690817	->G	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690818	G>A	Pathogenic	Intron variant
rs1131690819	T>-	Likely-pathogenic, pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690820	A>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1131690821	A>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1131690822	->G	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1375617541	C>-,CC	Likely-pathogenic, pathogenic	Coding sequence variant, frameshift variant
rs1385720097	G>C,T	Likely-pathogenic	Splice acceptor variant
rs1440280370	G>A,T	Pathogenic	Splice donor variant
rs1555509622	A>G	Pathogenic	Missense variant, initiator codon variant, 5 prime UTR variant
rs1555509623	T>C,G	Pathogenic	Missense variant, initiator codon variant, 5 prime UTR variant
rs1555509636	G>A	Likely-pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555509646	C>A,T	Pathogenic, uncertain-significance	Stop gained, missense variant, 5 prime UTR variant, coding sequence variant
rs1555514406	->T	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555514429	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555514464	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555514492	C>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515197	TC>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515210	AGAAGAGAGAC>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515214	AAGA>-	Pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515215	G>A	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555515217	CATCAGC>AGAATA	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515232	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555515264	->T	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515284	C>-	Pathogenic, pathogenic-likely-pathogenic, likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515296	GT>-	Pathogenic	Splice donor variant, 5 prime UTR variant, coding sequence variant
rs1555515297	T>C	Likely-pathogenic	Splice donor variant
rs1555515445	G>C,T	Pathogenic, uncertain-significance	Missense variant, 5 prime UTR variant, coding sequence variant
rs1555515596	A>G	Pathogenic	Splice acceptor variant
rs1555515721	->TG	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515726	C>T	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555515731	T>-	Pathogenic	Stop gained, 5 prime UTR variant, coding sequence variant
rs1555515739	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555515863	G>-	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1555515920	A>-	Likely-pathogenic	Frameshift variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1555515925	G>T	Pathogenic	Missense variant, intron variant, 5 prime UTR variant, coding sequence variant
rs1555516089	G>-	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555516111	G>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555516137	T>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555516191	AACAGAAAATAACGTAAGTGTGAGGATTTTTCAACTGACTTGCAGCAACTGG>-	Likely-pathogenic	Initiator codon variant, coding sequence variant, splice donor variant, intron variant, 5 prime UTR variant
rs1555516200	->T,TT	Pathogenic, pathogenic-likely-pathogenic	Splice donor variant
rs1555516520	A>G	Likely-pathogenic	Intron variant, splice acceptor variant
rs1555516532	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555516535	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555516545	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555516556	G>-	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555516567	->C	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1555516821	->C	Likely-pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555516896	CA>-	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555517074	AT>-,ATAT	Pathogenic	Frameshift variant, 5 prime UTR variant, coding sequence variant
rs1555517099	C>A	Pathogenic	Missense variant, coding sequence variant
rs1555517100	->C	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555517136	T>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555517153	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555517680	G>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555517889	GGTATCTTCCCCGCCCTGCC>-	Pathogenic	Frameshift variant, coding sequence variant
rs1555518210	A>G	Pathogenic, likely-pathogenic	Splice acceptor variant
rs1555518211	A>G,T	Likely-pathogenic, uncertain-significance	Missense variant, stop gained, coding sequence variant
rs1555518221	C>-,CC	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant
rs1555518239	G>T	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs1567471351	CTCCTCTTGGCTCTGCCAGGAGCCGGAGCCCTGCCACCCTGGCTTTGACGCCGAGAGCTACACGTTCACGGTGCCCCGGCGCCACCTGGAGAGAGGCCGCGTCCTGGGCAGAGGT>-	Pathogenic	Splice donor variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
rs1567501500	->CCGCCCC	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567504575	A>T	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1567504977	G>A	Likely-pathogenic, pathogenic	Splice donor variant
rs1567506511	TCTTCCAGGAAC>-	Likely-pathogenic	Intron variant, coding sequence variant, 5 prime UTR variant, splice acceptor variant
rs1567507138	C>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567507724	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567507825	->GT	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567508847	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567508939	TG>-	Likely-pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1567512585	G>A	Pathogenic	Stop gained, coding sequence variant, 5 prime UTR variant
rs1567512631	G>A	Likely-pathogenic, uncertain-significance	Intron variant
rs1567513227	A>-	Pathogenic	Coding sequence variant, frameshift variant
rs1567516230	G>T	Likely-pathogenic	Splice donor variant
rs1596960368	G>A	Pathogenic	Intron variant, coding sequence variant, stop gained
rs1596960393	T>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant
rs1596963500	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, 5 prime UTR variant
rs1596963827	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1596965628	G>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596970624	A>G	Likely-pathogenic	Splice acceptor variant
rs1596970676	TGTTTCTTCGG>-	Pathogenic	Coding sequence variant, frameshift variant
rs1596970988	C>A	Pathogenic	Coding sequence variant, stop gained
rs1596971108	G>C	Likely-pathogenic	Splice donor variant
rs1596976114	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1596976243	->A	Likely-pathogenic	Coding sequence variant, stop gained
rs1597884512	G>A	Likely-pathogenic	Splice acceptor variant
rs1597884637	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597890755	T>A	Pathogenic	Splice donor variant
rs1597890963	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597891145	A>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597893910	G>A	Pathogenic	Splice acceptor variant
rs1597894239	->A	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597894632	G>C	Likely-pathogenic	Splice acceptor variant
rs1597895871	C>-	Pathogenic	Intron variant, coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597897893	TC>-	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant
rs1597897917	TCACCACCTCCAC>AAA	Pathogenic	Coding sequence variant, frameshift variant, 5 prime UTR variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT000029	hsa-miR-9-5p	Western blot	19572217
MIRT000029	hsa-miR-9-5p	Reporter assay;Western blot	20173740
MIRT000029	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	27447934
MIRT000029	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR	26206264
MIRT000029	hsa-miR-9-5p	Luciferase reporter assay, qRT-PCR, Western blot	28107581
MIRT006029	hsa-miR-92a-3p	Luciferase reporter assay, Northern blot, qRT-PCR	21148309
MIRT006230	hsa-miR-25-3p	Luciferase reporter assay, qRT-PCR, Western blot	22450326
MIRT016469	hsa-miR-193b-3p	Proteomics	21512034
MIRT021686	hsa-miR-138-5p	Western blot	21770894
MIRT029643	hsa-miR-26b-5p	Microarray	19088304
MIRT047874	hsa-miR-30c-5p	CLASH	23622248
MIRT053083	hsa-miR-23a-3p	qRT-PCR, Western blot	22752005
MIRT053131	hsa-miR-30a-5p	In situ hybridization, qRT-PCR, Western blot	24812123
MIRT054132	hsa-miR-199a-5p	Immunofluorescence, Immunohistochemistry, Immunoprecipitaion, Luciferase reporter assay, Microarray, qRT-PCR, Western blot	25080937
MIRT054132	hsa-miR-199a-5p	qRT-PCR, Western blot	27347107
MIRT054802	hsa-miR-544a	Luciferase reporter assay, qRT-PCR, Western blot	24940073
MIRT054802	hsa-miR-544a	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	26264654
MIRT054864	hsa-miR-204-5p	Immunofluorescence, Luciferase reporter assay, qRT-PCR, Western blot	24280681
MIRT438026	hsa-miR-1323	qRT-PCR	24367666
MIRT438027	hsa-miR-34c-5p	qRT-PCR	24367666
MIRT438034	hsa-miR-371a-5p	qRT-PCR	24367666
MIRT438185	hsa-miR-888-5p	Luciferase reporter assay, qRT-PCR, Western blot	24480745
MIRT438619	hsa-miR-224-5p	qRT-PCR	22989374
MIRT438619	hsa-miR-224-5p	Luciferase reporter assay, Western blot	25804630
MIRT731384	hsa-miR-421	Luciferase reporter assay, Immunofluorescence, Immunohistochemistry, qRT-PCR, Western blot	27016414
MIRT732841	hsa-miR-9-3p	Luciferase reporter assay, Western blot	27612152
MIRT732841	hsa-miR-9-3p	qRT-PCR, Western blot	27468688
MIRT733369	hsa-miR-129-5p	qRT-PCR, Western blot	28105223
MIRT734138	hsa-miR-203a-3p	qRT-PCR, Western blot	28269747
MIRT734331	hsa-miR-200c-5p	Western blot	28411308

Transcription factors

Transcription factor	Regulation	Reference
AR	Repression	18794357
CBX7	Activation	19706751
DNMT1	Repression	18049164
DNMT1	Unknown	21846773
ESR1	Unknown	17893710
EZH2	Repression	21685935
FOXA2	Activation	20160041
FOXF1	Unknown	24186199
FOXM1	Unknown	21311221
FOXQ1	Unknown	23403865
GATA3	Activation	20189993
GLI2	Repression	23890107
HDAC1	Repression	18794357;19182791;20580679;21184735;21685935
HDAC1	Unknown	24424621
HDAC2	Repression	19706751;20714342;21685935
HDAC3	Repression	20049841
HDGF	Repression	22247069
HIF1A	Repression	22295844
HMGA1	Repression	22276142
HMGA2	Activation	19179606
HOXA7	Activation	11742062
KLF4	Activation	22407433;23376074
KLF6	Unknown	16702959;22277651
KLF8	Activation	20728449
LCOR	Unknown	22277651
LMO2	Repression	17167821
MTA1	Repression	18719363;24424621
MTA2	Repression	20714342
NFKB1	Activation	20683022
PARP1	Activation	21577210
PARP1	Unknown	18773488
RB1	Unknown	12391156
RBBP7	Repression	20714342
RELA	Activation	20683022
SALL4	Repression	23954296
SIRT1	Repression	21640770;22249256
SIX1	Repression	22286765
SMARCA4	Activation	20418909
SNAI1	Repression	12579345;15311212;16424022;16502042;16617148;16804902;19179606;19874710;19893985;20053763
SNAI1	Unknown	21081648;21796367
SNAI2	Repression	15311212;20053763;22899291
SNAI2	Unknown	21081648;21796367
SPDEF	Activation	23449978
STAT3	Unknown	18320073;22205702
TCF12	Repression	22130667
TCF3	Repression	20053763
TFAP2A	Activation	17224907
TFAP2A	Repression	17224907
TWIST1	Repression	15311212;19581928;20053763;21876555;22899291
TWIST1	Unknown	21796367
TWIST2	Unknown	21796367
VDR	Activation	22213313
WT1	Repression	23298185;23945386
YBX1	Activation	17072343
ZEB1	Activation	19839049
ZEB1	Repression	12161443;15311212;23743934
ZEB1	Unknown	22147512
ZEB2	Repression	11430829;20053763;20682777;22227038;23376074
ZNF217	Repression	17130829

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005509	Function	Calcium ion binding	IBA	21873635
GO:0005515	Function	Protein binding	IPI	11401320, 12526809, 15695390, 16212417, 16983094, 17220478, 17274640, 17715295, 18093941, 18593713, 19016843, 19038973, 19732724, 19822757, 20086044, 21685945, 22056988, 22158051, 22252131, 22750944, 23086448, 24189400, 24424122, 24658140, 25241761, 25344754, 31473225, 31980649, 328
GO:0005576	Component	Extracellular region	TAS
GO:0005737	Component	Cytoplasm	IBA	21873635
GO:0005768	Component	Endosome	IEA
GO:0005802	Component	Trans-Golgi network	IMP	17620337
GO:0005886	Component	Plasma membrane	IDA	28301459
GO:0005886	Component	Plasma membrane	TAS
GO:0005912	Component	Adherens junction	IDA	16338932, 20086044, 24046456
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	NAS	8033105, 16338932
GO:0007416	Process	Synapse assembly	IBA	21873635
GO:0008013	Function	Beta-catenin binding	IDA	17620337
GO:0009636	Process	Response to toxic substance	IEA
GO:0009898	Component	Cytoplasmic side of plasma membrane	IDA	20189993
GO:0010468	Process	Regulation of gene expression	IMP	19403558
GO:0015629	Component	Actin cytoskeleton	IDA	16338932
GO:0016021	Component	Integral component of membrane	IDA	16338932
GO:0016328	Component	Lateral plasma membrane	IDA	16338932, 17620337
GO:0016342	Component	Catenin complex	IBA	21873635
GO:0016342	Component	Catenin complex	IDA	18593713
GO:0016600	Component	Flotillin complex	IBA	21873635
GO:0016600	Component	Flotillin complex	IDA	24046456
GO:0021983	Process	Pituitary gland development	IEA
GO:0022408	Process	Negative regulation of cell-cell adhesion	IMP	19653274
GO:0030027	Component	Lamellipodium	IDA	24046456
GO:0030054	Component	Cell junction	IDA	19038973, 28169360
GO:0030054	Component	Cell junction	TAS	17047063
GO:0030198	Process	Extracellular matrix organization	TAS
GO:0030336	Process	Negative regulation of cell migration	IMP	16882694
GO:0030506	Function	Ankyrin binding	IPI	17620337
GO:0030864	Component	Cortical actin cytoskeleton	IDA	24046456
GO:0031175	Process	Neuron projection development	IEA
GO:0032794	Function	GTPase activating protein binding	IPI	20116244
GO:0034332	Process	Adherens junction organization	IMP	21724833
GO:0034332	Process	Adherens junction organization	TAS
GO:0035635	Process	Entry of bacterium into host cell	TAS
GO:0042307	Process	Positive regulation of protein import into nucleus	IDA	16338932
GO:0042493	Process	Response to drug	IEA
GO:0042802	Function	Identical protein binding	IPI	19114658, 19646884, 21300292, 23112161, 24725409
GO:0043296	Component	Apical junction complex	IBA	21873635
GO:0043296	Component	Apical junction complex	IDA	10460003
GO:0045295	Function	Gamma-catenin binding	IPI	1639850
GO:0045296	Function	Cadherin binding	HDA	25468996
GO:0045296	Function	Cadherin binding	IBA	21873635
GO:0045893	Process	Positive regulation of transcription, DNA-templated	IDA	16338932
GO:0048471	Component	Perinuclear region of cytoplasm	IDA	16338932
GO:0050839	Function	Cell adhesion molecule binding	IPI	21724833
GO:0050839	Function	Cell adhesion molecule binding	NAS	16338932
GO:0070062	Component	Extracellular exosome	HDA	23533145
GO:0071285	Process	Cellular response to lithium ion	IDA	12937339
GO:0071681	Process	Cellular response to indole-3-methanol	IDA	10868478
GO:0072659	Process	Protein localization to plasma membrane	IDA	17620337
GO:0072659	Process	Protein localization to plasma membrane	IMP	20859650
GO:0098609	Process	Cell-cell adhesion	IDA	16338932, 18593713
GO:0098742	Process	Cell-cell adhesion via plasma-membrane adhesion molecules	IBA	21873635
GO:0098794	Component	Postsynapse	IEA
GO:0098978	Component	Glutamatergic synapse	IEA
GO:0099576	Process	Regulation of protein catabolic process at postsynapse, modulating synaptic transmission	IEA

Other IDs

• MIM: 192090
• HGNC: 1748
• e!Ensembl: ENSG00000039068

Protein

• UniProt ID: P12830
• Protein name: Cadherin-1 (CAM 120/80) (Epithelial cadherin) (E-cadherin) (Uvomorulin) (CD antigen CD324) [Cleaved into: E-Cad/CTF1; E-Cad/CTF2; E-Cad/CTF3]
• Protein function: Cadherins are calcium-dependent cell adhesion proteins (PubMed:11976333). They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. CDH1 is involved in mechanisms regulating cell-cell adhesions, mobility and proliferation of epithelial cells (PubMed:11976333). Has a potent invasive suppressor role. It is a ligand for integrin alpha-E/beta-7. ; E-Cad/CTF2 promotes non-amyloidogenic degradation of Abeta precursors. Has a strong inhibitory effect on APP C99 and C83 production. ; (Microbial infection) Serves as a receptor for Listeria monocytogenes; internalin A (InlA) binds to this protein and promotes uptake of the bacteria.
• PDB: 1O6S, 2O72, 2OMT, 2OMU, 2OMV, 2OMX, 2OMY, 2OMZ, 3FF7, 3FF8, 3L6X, 3L6Y, 4ZT1, 4ZTE, 6CXY, 6OLE, 6OLF, 6OLG, 6VEL
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF08758	Cadherin_pro	27 → 116	Cadherin prodomain like	Domain
  PF00028	Cadherin	159 → 253	Cadherin domain	Domain
  PF00028	Cadherin	267 → 366	Cadherin domain	Domain
  PF00028	Cadherin	380 → 478	Cadherin domain	Domain
  PF00028	Cadherin	491 → 585	Cadherin domain	Domain
  PF00028	Cadherin	598 → 686	Cadherin domain	Domain
  PF01049	Cadherin_C	733 → 879	Cadherin cytoplasmic region	Family

• Sequence:

  MGPWSRSLSALLLLLQVSSWLCQEPEPCHPGFDAESYTFTVPRRHLERGRVLGRVNFEDC
  TGRQRTAYFSLDTRFKVGTDGVITVKRPLRFHNPQIHFLVYAWDSTYRKFSTKVTLNTVG
  HHHRPPPHQASVSGIQAELLTFPNSSPGLRRQKRDWVIPPISCPENEKGPFPKNLVQIKS
  NKDKEGKVFYSITGQGADTPPVGVFIIERETGWLKVTEPLDRERIATYTLFSHAVSSNGN
  AVEDPMEILITVTDQNDNKPEFTQEVFKGSVMEGALPGTSVMEVTATDADDDVNTYNAAI
  AYTILSQDPELPDKNMFTINRNTGVISVVTTGLDRESFPTYTLVVQAADLQGEGLSTTAT
  AVITVTDTNDNPPIFNPTTYKGQVPENEANVVITTLKVTDADAPNTPAWEAVYTILNDDG
  GQFVVTTNPVNNDGILKTAKGLDFEAKQQYILHVAVTNVVPFEVSLTTSTATVTVDVLDV
  NEAPIFVPPEKRVEVSEDFGVGQEITSYTAQEPDTFMEQKITYRIWRDTANWLEINPDTG
  AISTRAELDREDFEHVKNSTYTALIIATDNGSPVATGTGTLLLILSDVNDNAPIPEPRTI
  FFCERNPKPQVINIIDADLPPNTSPFTAELTHGASANWTIQYNDPTQESIILKPKMALEV
  GDYKINLKLMDNQNKDQVTTLEVSVCDCEGAAGVCRKAQPVEAGLQIPAILGILGGILAL
  LILILLLLLFLRRRAVVKEPLLPPEDDTRDNVYYYDEEGGGEEDQDFDLSQLHRGLDARP
  EVTRNDVAPTLMSVPRYLPRPANPDEIGNFIDENLKAADTDPTAPPYDSLLVFDYEGSGS
  EAASLSSLNSSESDKDQDYDYLNEWGNRFKKLADMYGGGEDD

• Sequence length: 882