Gene Details | GeDiPNet - Complete Gene Info, Disease Associations & Pathways

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	9620
Gene name	Cadherin EGF LAG seven-pass G-type receptor 1
Gene symbol	CELSR1
Synonyms (NCBI Gene)	ADGRC1CDHF9FMI2HFMI2LMPHM9ME2
Chromosome	22
Chromosome location	22q13.31
Summary	The protein encoded by this gene is a member of the flamingo subfamily, part of the cadherin superfamily. The flamingo subfamily consists of nonclassic-type cadherins; a subpopulation that does not interact with catenins. The flamingo cadherins are locate

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SNP ID	Visualize variation	Clinical significance	Consequence
rs786201015	->CA	Risk-factor	Frameshift variant, coding sequence variant
rs786201016	CA>-	Risk-factor	Frameshift variant, coding sequence variant
rs1569124017	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs1569133268	C>G	Likely-pathogenic	Splice acceptor variant
rs1569141899	A>T	Pathogenic	Splice donor variant
rs1569226110	T>-	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, frameshift variant
rs1569227576	C>A	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, stop gained

235

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miRTarBase ID	miRNA	Experiments	Reference
MIRT049355	hsa-miR-92a-3p	CLASH	23622248
MIRT040199	hsa-miR-615-3p	CLASH	23622248
MIRT884224	hsa-miR-1200	CLIP-seq
MIRT884225	hsa-miR-1202	CLIP-seq
MIRT884226	hsa-miR-1227	CLIP-seq
MIRT884227	hsa-miR-124	CLIP-seq
MIRT884228	hsa-miR-125a-5p	CLIP-seq
MIRT884229	hsa-miR-125b	CLIP-seq
MIRT884230	hsa-miR-127-5p	CLIP-seq
MIRT884231	hsa-miR-133a	CLIP-seq
MIRT884232	hsa-miR-133b	CLIP-seq
MIRT884233	hsa-miR-1343	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT884235	hsa-miR-22	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT884237	hsa-miR-296-5p	CLIP-seq
MIRT884238	hsa-miR-3140-5p	CLIP-seq
MIRT884239	hsa-miR-3163	CLIP-seq
MIRT884240	hsa-miR-3181	CLIP-seq
MIRT884241	hsa-miR-3185	CLIP-seq
MIRT884242	hsa-miR-3187-3p	CLIP-seq
MIRT884243	hsa-miR-3192	CLIP-seq
MIRT884244	hsa-miR-3194-5p	CLIP-seq
MIRT884245	hsa-miR-3622a-3p	CLIP-seq
MIRT884246	hsa-miR-3622b-3p	CLIP-seq
MIRT884247	hsa-miR-3646	CLIP-seq
MIRT884248	hsa-miR-3650	CLIP-seq
MIRT884249	hsa-miR-3652	CLIP-seq
MIRT884250	hsa-miR-3662	CLIP-seq
MIRT884251	hsa-miR-3670	CLIP-seq
MIRT884252	hsa-miR-3692	CLIP-seq
MIRT884253	hsa-miR-3714	CLIP-seq
MIRT884254	hsa-miR-3910	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT884256	hsa-miR-3972	CLIP-seq
MIRT884257	hsa-miR-410	CLIP-seq
MIRT884258	hsa-miR-4319	CLIP-seq
MIRT884259	hsa-miR-4330	CLIP-seq
MIRT884260	hsa-miR-4430	CLIP-seq
MIRT884261	hsa-miR-4435	CLIP-seq
MIRT884262	hsa-miR-4470	CLIP-seq
MIRT884263	hsa-miR-4486	CLIP-seq
MIRT884264	hsa-miR-4490	CLIP-seq
MIRT884265	hsa-miR-4492	CLIP-seq
MIRT884266	hsa-miR-4496	CLIP-seq
MIRT884267	hsa-miR-4498	CLIP-seq
MIRT884268	hsa-miR-4508	CLIP-seq
MIRT884269	hsa-miR-4527	CLIP-seq
MIRT884270	hsa-miR-4529-5p	CLIP-seq
MIRT884271	hsa-miR-4539	CLIP-seq
MIRT884272	hsa-miR-4680-5p	CLIP-seq
MIRT884273	hsa-miR-4688	CLIP-seq
MIRT884274	hsa-miR-4698	CLIP-seq
MIRT884275	hsa-miR-4701-5p	CLIP-seq
MIRT884276	hsa-miR-4707-3p	CLIP-seq
MIRT884277	hsa-miR-4709-3p	CLIP-seq
MIRT884278	hsa-miR-4749-3p	CLIP-seq
MIRT884279	hsa-miR-4756-3p	CLIP-seq
MIRT884280	hsa-miR-4760-3p	CLIP-seq
MIRT884281	hsa-miR-4763-5p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT884283	hsa-miR-506	CLIP-seq
MIRT884284	hsa-miR-548l	CLIP-seq
MIRT884285	hsa-miR-548n	CLIP-seq
MIRT884286	hsa-miR-548p	CLIP-seq
MIRT884287	hsa-miR-548s	CLIP-seq
MIRT884288	hsa-miR-548t	CLIP-seq
MIRT884289	hsa-miR-552	CLIP-seq
MIRT884290	hsa-miR-568	CLIP-seq
MIRT884291	hsa-miR-588	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT884293	hsa-miR-661	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT884295	hsa-miR-744	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT884297	hsa-miR-762	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884299	hsa-miR-9	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT884225	hsa-miR-1202	CLIP-seq
MIRT1962180	hsa-miR-1253	CLIP-seq
MIRT1962181	hsa-miR-1254	CLIP-seq
MIRT1962182	hsa-miR-1257	CLIP-seq
MIRT1962183	hsa-miR-1270	CLIP-seq
MIRT1962184	hsa-miR-1285	CLIP-seq
MIRT1962185	hsa-miR-1293	CLIP-seq
MIRT884233	hsa-miR-1343	CLIP-seq
MIRT1962186	hsa-miR-141	CLIP-seq
MIRT1962187	hsa-miR-146b-3p	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT1962188	hsa-miR-1915	CLIP-seq
MIRT1962189	hsa-miR-199a-5p	CLIP-seq
MIRT1962190	hsa-miR-199b-5p	CLIP-seq
MIRT1962191	hsa-miR-200a	CLIP-seq
MIRT884235	hsa-miR-22	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT884237	hsa-miR-296-5p	CLIP-seq
MIRT1962192	hsa-miR-3116	CLIP-seq
MIRT1962193	hsa-miR-3135	CLIP-seq
MIRT1962194	hsa-miR-3144-5p	CLIP-seq
MIRT1962195	hsa-miR-3150a-3p	CLIP-seq
MIRT1962196	hsa-miR-3173-5p	CLIP-seq
MIRT1962197	hsa-miR-3175	CLIP-seq
MIRT1962198	hsa-miR-3180	CLIP-seq
MIRT1962199	hsa-miR-3180-3p	CLIP-seq
MIRT1962200	hsa-miR-3184	CLIP-seq
MIRT1962201	hsa-miR-3187-5p	CLIP-seq
MIRT1962202	hsa-miR-3191	CLIP-seq
MIRT884244	hsa-miR-3194-5p	CLIP-seq
MIRT1962203	hsa-miR-3196	CLIP-seq
MIRT1962204	hsa-miR-323-5p	CLIP-seq
MIRT1962205	hsa-miR-326	CLIP-seq
MIRT1962206	hsa-miR-330-5p	CLIP-seq
MIRT884248	hsa-miR-3650	CLIP-seq
MIRT1962207	hsa-miR-3688-5p	CLIP-seq
MIRT1962208	hsa-miR-377	CLIP-seq
MIRT1962209	hsa-miR-378g	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT884256	hsa-miR-3972	CLIP-seq
MIRT1962210	hsa-miR-423-5p	CLIP-seq
MIRT1962211	hsa-miR-4254	CLIP-seq
MIRT1962212	hsa-miR-4436b-5p	CLIP-seq
MIRT1962213	hsa-miR-4473	CLIP-seq
MIRT1962214	hsa-miR-4483	CLIP-seq
MIRT884263	hsa-miR-4486	CLIP-seq
MIRT1962215	hsa-miR-4494	CLIP-seq
MIRT1962216	hsa-miR-4651	CLIP-seq
MIRT1962217	hsa-miR-4652-5p	CLIP-seq
MIRT1962218	hsa-miR-4667-5p	CLIP-seq
MIRT1962219	hsa-miR-4683	CLIP-seq
MIRT1962220	hsa-miR-4700-5p	CLIP-seq
MIRT1962221	hsa-miR-4710	CLIP-seq
MIRT1962222	hsa-miR-4728-5p	CLIP-seq
MIRT884281	hsa-miR-4763-5p	CLIP-seq
MIRT1962223	hsa-miR-4787-5p	CLIP-seq
MIRT1962224	hsa-miR-4793-3p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT1962225	hsa-miR-499a-5p	CLIP-seq
MIRT1962226	hsa-miR-508-5p	CLIP-seq
MIRT1962227	hsa-miR-512-3p	CLIP-seq
MIRT1962228	hsa-miR-520a-5p	CLIP-seq
MIRT1962229	hsa-miR-520f	CLIP-seq
MIRT1962230	hsa-miR-525-5p	CLIP-seq
MIRT1962231	hsa-miR-548c-3p	CLIP-seq
MIRT884289	hsa-miR-552	CLIP-seq
MIRT1962232	hsa-miR-579	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT1962233	hsa-miR-608	CLIP-seq
MIRT1962234	hsa-miR-609	CLIP-seq
MIRT1962235	hsa-miR-612	CLIP-seq
MIRT1962236	hsa-miR-620	CLIP-seq
MIRT884293	hsa-miR-661	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT1962237	hsa-miR-711	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT1962238	hsa-miR-874	CLIP-seq
MIRT1962239	hsa-miR-876-3p	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT1962240	hsa-miR-939	CLIP-seq
MIRT1962241	hsa-miR-942	CLIP-seq
MIRT2198689	hsa-miR-1178	CLIP-seq
MIRT884227	hsa-miR-124	CLIP-seq
MIRT2198690	hsa-miR-1289	CLIP-seq
MIRT2198691	hsa-miR-1297	CLIP-seq
MIRT2198692	hsa-miR-132	CLIP-seq
MIRT1962186	hsa-miR-141	CLIP-seq
MIRT2198693	hsa-miR-149	CLIP-seq
MIRT884234	hsa-miR-1908	CLIP-seq
MIRT1962188	hsa-miR-1915	CLIP-seq
MIRT2198694	hsa-miR-19a	CLIP-seq
MIRT2198695	hsa-miR-19b	CLIP-seq
MIRT1962191	hsa-miR-200a	CLIP-seq
MIRT2198696	hsa-miR-212	CLIP-seq
MIRT2198697	hsa-miR-23a	CLIP-seq
MIRT2198698	hsa-miR-23b	CLIP-seq
MIRT2198699	hsa-miR-23c	CLIP-seq
MIRT884236	hsa-miR-2467-3p	CLIP-seq
MIRT2198700	hsa-miR-26a	CLIP-seq
MIRT2198701	hsa-miR-26b	CLIP-seq
MIRT2198702	hsa-miR-3064-5p	CLIP-seq
MIRT2198703	hsa-miR-3065-3p	CLIP-seq
MIRT2198704	hsa-miR-3117-3p	CLIP-seq
MIRT2198705	hsa-miR-3119	CLIP-seq
MIRT2198706	hsa-miR-3136-5p	CLIP-seq
MIRT2198707	hsa-miR-3138	CLIP-seq
MIRT1962194	hsa-miR-3144-5p	CLIP-seq
MIRT2198708	hsa-miR-3169	CLIP-seq
MIRT1962202	hsa-miR-3191	CLIP-seq
MIRT2198709	hsa-miR-3198	CLIP-seq
MIRT1962205	hsa-miR-326	CLIP-seq
MIRT1962206	hsa-miR-330-5p	CLIP-seq
MIRT2198710	hsa-miR-33a	CLIP-seq
MIRT2198711	hsa-miR-33b	CLIP-seq
MIRT884245	hsa-miR-3622a-3p	CLIP-seq
MIRT884246	hsa-miR-3622b-3p	CLIP-seq
MIRT884253	hsa-miR-3714	CLIP-seq
MIRT884254	hsa-miR-3910	CLIP-seq
MIRT2198712	hsa-miR-3911	CLIP-seq
MIRT884255	hsa-miR-3919	CLIP-seq
MIRT2198713	hsa-miR-4279	CLIP-seq
MIRT2198714	hsa-miR-4294	CLIP-seq
MIRT2198715	hsa-miR-4302	CLIP-seq
MIRT2198716	hsa-miR-4309	CLIP-seq
MIRT2198717	hsa-miR-4418	CLIP-seq
MIRT2198718	hsa-miR-4428	CLIP-seq
MIRT2198719	hsa-miR-4439	CLIP-seq
MIRT2198720	hsa-miR-4465	CLIP-seq
MIRT884264	hsa-miR-4490	CLIP-seq
MIRT2198721	hsa-miR-4643	CLIP-seq
MIRT1962217	hsa-miR-4652-5p	CLIP-seq
MIRT1962218	hsa-miR-4667-5p	CLIP-seq
MIRT1962220	hsa-miR-4700-5p	CLIP-seq
MIRT2198722	hsa-miR-4706	CLIP-seq
MIRT2198723	hsa-miR-4722-5p	CLIP-seq
MIRT1962222	hsa-miR-4728-5p	CLIP-seq
MIRT2198724	hsa-miR-4749-5p	CLIP-seq
MIRT2198725	hsa-miR-4759	CLIP-seq
MIRT2198726	hsa-miR-4794	CLIP-seq
MIRT2198727	hsa-miR-4800-5p	CLIP-seq
MIRT884282	hsa-miR-486-3p	CLIP-seq
MIRT2198728	hsa-miR-495	CLIP-seq
MIRT2198729	hsa-miR-505	CLIP-seq
MIRT884283	hsa-miR-506	CLIP-seq
MIRT2198730	hsa-miR-509-3-5p	CLIP-seq
MIRT2198731	hsa-miR-509-5p	CLIP-seq
MIRT2198732	hsa-miR-584	CLIP-seq
MIRT884292	hsa-miR-589	CLIP-seq
MIRT2198733	hsa-miR-644	CLIP-seq
MIRT884294	hsa-miR-663	CLIP-seq
MIRT1962237	hsa-miR-711	CLIP-seq
MIRT884296	hsa-miR-759	CLIP-seq
MIRT884298	hsa-miR-885-3p	CLIP-seq
MIRT884300	hsa-miR-922	CLIP-seq
MIRT2198734	hsa-miR-943	CLIP-seq

Show/Hide all (32)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001736	Process	Establishment of planar polarity	ISS
GO:0001764	Process	Neuron migration	ISS
GO:0001843	Process	Neural tube closure	ISS
GO:0004888	Function	Transmembrane signaling receptor activity	IEA
GO:0004930	Function	G protein-coupled receptor activity	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005886	Component	Plasma membrane	IBA
GO:0005886	Component	Plasma membrane	IDA
GO:0005886	Component	Plasma membrane	IEA
GO:0005912	Component	Adherens junction	IBA
GO:0007155	Process	Cell adhesion	IEA
GO:0007156	Process	Homophilic cell adhesion via plasma membrane adhesion molecules	IEA
GO:0007165	Process	Signal transduction	IEA
GO:0007166	Process	Cell surface receptor signaling pathway	IEA
GO:0007186	Process	G protein-coupled receptor signaling pathway	IEA
GO:0007266	Process	Rho protein signal transduction	ISS
GO:0007399	Process	Nervous system development	IEA
GO:0007409	Process	Axonogenesis	IBA
GO:0007417	Process	Central nervous system development	TAS	10716726
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	TAS	10716726
GO:0032956	Process	Regulation of actin cytoskeleton organization	ISS
GO:0042249	Process	Establishment of planar polarity of embryonic epithelium	ISS
GO:0044331	Process	Cell-cell adhesion mediated by cadherin	IBA
GO:0045176	Process	Apical protein localization	ISS
GO:0048105	Process	Establishment of body hair planar orientation	ISS
GO:0060071	Process	Wnt signaling pathway, planar cell polarity pathway	NAS	24431302
GO:0060488	Process	Orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS
GO:0060489	Process	Planar dichotomous subdivision of terminal units involved in lung branching morphogenesis	ISS
GO:0060490	Process	Lateral sprouting involved in lung morphogenesis	ISS
GO:0090251	Process	Protein localization involved in establishment of planar polarity	ISS

MIM	HGNC	e!Ensembl
604523	1850	ENSG00000075275

Q9NYQ6

Protein name

Cadherin EGF LAG seven-pass G-type receptor 1 (Cadherin family member 9) (Flamingo homolog 2) (hFmi2)

Protein function

Receptor that may have an important role in cell/cell signaling during nervous system formation.

PDB

7SZ8 , 8D40

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00028	Cadherin	250 → 344	Cadherin domain	Domain
PF00028	Cadherin	358 → 450	Cadherin domain	Domain
PF00028	Cadherin	464 → 556	Cadherin domain	Domain
PF00028	Cadherin	570 → 678	Cadherin domain	Domain
PF00028	Cadherin	692 → 780	Cadherin domain	Domain
PF00028	Cadherin	794 → 883	Cadherin domain	Domain
PF00028	Cadherin	897 → 990	Cadherin domain	Domain
PF00028	Cadherin	1005 → 1092	Cadherin domain	Domain
PF00008	EGF	1407 → 1439	EGF-like domain	Domain
PF02210	Laminin_G_2	1470 → 1629	Laminin G domain	Domain
PF00008	EGF	1653 → 1683	EGF-like domain	Domain
PF02210	Laminin_G_2	1719 → 1849	Laminin G domain	Domain
PF00053	Laminin_EGF	2003 → 2049	Laminin EGF domain	Domain
PF02793	HRM	2052 → 2107	Hormone receptor domain	Family
PF16489	GAIN	2130 → 2381	GPCR-Autoproteolysis INducing (GAIN) domain	Domain
PF01825	GPS	2409 → 2454	GPCR proteolysis site, GPS, motif	Motif
PF00002	7tm_2	2465 → 2697	7 transmembrane receptor (Secretin family)	Family

Sequence

MAPPPPPVLPVLLLLAAAAALPAMGLRAAAWEPRVPGGTRAFALRPGCTYAVGAACTPRA
PRELLDVGRDGRLAGRRRVSGAGRPLPLQVRLVARSAPTALSRRLRARTHLPGCGARARL
CGTGARLCGALCFPVPGGCAAAQHSALAAPTTLPACRCPPRPRPRCPGRPICLPPGGSVR
LRLLCALRRAAGAVRVGLALEAATAGTPSASPSPSPPLPPNLPEARAGPARRARRGTSGR
GSLKFPMPNYQVALFENEPAGTLILQLHAHYTIEGEEERVSYYMEGLFDERSRGYFRIDS
ATGAVSTDSVLDRETKETHVLRVKAVDYSTPPRSATTYITVLVKDTNDHSPVFEQSEYRE
RVRENLEVGYEVLTIRASDRDSPINANLRYRVLGGAWDVFQLNESSGVVSTRAVLDREEA
AEYQLLVEANDQGRNPGPLSATATVYIEVEDENDNYPQFSEQNYVVQVPEDVGLNTAVLR
VQATDRDQGQNAAIHYSILSGNVAGQFYLHSLSGILDVINPLDFEDVQKYSLSIKAQDGG
RPPLINSSGVVSVQVLDVNDNEPIFVSSPFQATVLENVPLGYPVVHIQAVDADSGENARL
HYRLVDTASTFLGGGSAGPKNPAPTPDFPFQIHNSSGWITVCAELDREEVEHYSFGVEAV
DHGSPPMSSSTSVSITVLDVNDNDPVFTQPTYELRLNEDAAVGSSVLTLQARDRDANSVI
TYQLTGGNTRNRFALSSQRGGGLITLALPLDYKQEQQYVLAVTASDGTRSHTAHVLINVT
DANTHRPVFQSSHYTVSVSEDRPVGTSIATLSANDEDTGENARITYVIQDPVPQFRIDPD
SGTMYTMMELDYENQVAYTLTIMAQDNGIPQKSDTTTLEILILDANDNAPQFLWDFYQGS
IFEDAPPSTSILQVSATDRDSGPNGRLLYTFQGGDDGDGDFYIEPTSGVIRTQRRLDREN
VAVYNLWALAVDRGSPTPLSASVEIQVTILDINDNAPMFEKDELELFVEENNPVGSVVAK
IRANDPDEGPNAQIMYQIVEGDMRHFFQLDLLNGDLRAMVELDFEVRREYVLVVQATSAP
LVSRATVHILLVDQNDNPPVLPDFQILFNNYVTNKSNSFPTGVIGCIPAHDPDVSDSLNY
TFVQGNELRLLLLDPATGELQLSRDLDNNRPLEALMEVSVSDGIHSVTAFCTLRVTIITD
DMLTNSITVRLENMSQEKFLSPLLALFVEGVAAVLSTTKDDVFVFNVQNDTDVSSNILNV
TFSALLPGGVRGQFFPSEDLQEQIYLNRTLLTTISTQRVLPFDDNICLREPCENYMKCVS
VLRFDSSAPFLSSTTVLFRPIHPINGLRCRCPPGFTGDYCETEIDLCYSDPCGANGRCRS
REGGYTCECFEDFTGEHCEVDARSGRCANGVCKNGGTCVNLLIGGFHCVCPPGEYERPYC
EVTTRSFPPQSFVTFRGLRQRFHFTISLTFATQERNGLLLYNGRFNEKHDFIALEIVDEQ
VQLTFSAGETTTTVAPKVPSGVSDGRWHSVQVQYYNKPNIGHLGLPHGPSGEKMAVVTVD
DCDTTMAVRFGKDIGNYSCAAQGTQTGSKKSLDLTGPLLLGGVPNLPEDFPVHNRQFVGC
MRNLSVDGKNVDMAGFIANNGTREGCAARRNFCDGRRCQNGGTCVNRWNMYLCECPLRFG
GKNCEQAMPHPQLFSGESVVSWSDLNIIISVPWYLGLMFRTRKEDSVLMEATSGGPTSFR
LQILNNYLQFEVSHGPSDVESVMLSGLRVTDGEWHHLLIELKNVKEDSEMKHLVTMTLDY
GMDQNKADIGGMLPGLTVRSVVVGGASEDKVSVRRGFRGCMQGVRMGGTPTNVATLNMNN
ALKVRVKDGCDVDDPCTSSPCPPNSRCHDAWEDYSCVCDKGYLGINCVDACHLNPCENMG
ACVRSPGSPQGYVCECGPSHYGPYCENKLDLPCPRGWWGNPVCGPCHCAVSKGFDPDCNK
TNGQCQCKENYYKLLAQDTCLPCDCFPHGSHSRTCDMATGQCACKPGVIGRQCNRCDNPF
AEVTTLGCEVIYNGCPKAFEAGIWWPQTKFGQPAAVPCPKGSVGNAVRHCSGEKGWLPPE
LFNCTTISFVDLRAMNEKLSRNETQVDGARALQLVRALRSATQHTGTLFGNDVRTAYQLL
GHVLQHESWQQGFDLAATQDADFHEDVIHSGSALLAPATRAAWEQIQRSEGGTAQLLRRL
EGYFSNVARNVRRTYLRPFVIVTANMILAVDIFDKFNFTGARVPRFDTIHEEFPRELESS
VSFPADFFRPPEEKEGPLLRPAGRRTTPQTTRPGPGTEREAPISRRRRHPDDAGQFAVAL
VIIYRTLGQLLPERYDPDRRSLRLPHRPIINTPMVSTLVYSEGAPLPRPLERPVLVEFAL
LEVEERTKPVCVFWNHSLAVGGTGGWSARGCELLSRNRTHVACQCSHTASFAVLMDISRR
ENGEVLPLKIVTYAAVSLSLAALLVAFVLLSLVRMLRSNLHSIHKHLAVALFLSQLVFVI
GINQTENPFLCTVVAILLHYIYMSTFAWTLVESLHVYRMLTEVRNIDTGPMRFYYVVGWG
IPAIVTGLAVGLDPQGYGNPDFCWLSLQDTLIWSFAGPIGAVIIINTVTSVLSAKVSCQR
KHHYYGKKGIVSLLRTAFLLLLLISATWLLGLLAVNRDALSFHYLFAIFSGLQGPFVLLF
HCVLNQEVRKHLKGVLGGRKLHLEDSATTRATLLTRSLNCNTTFGDGPDMLRTDLGESTA
SLDSIVRDEGIQKLGVSSGLVRGSHGEPDASLMPRSCKDPPGHDSDSDSELSLDEQSSSY
ASSHSSDSEDDGVGAEEKWDPARGAVHSTPKGDAVANHVPAGWPDQSLAESDSEDPSGKP
RLKVETKVSVELHREEQGSHRGEYPPDQESGGAARLASSQPPEQRKGILKNKVTYPPPLT
LTEQTLKGRLREKLADCEQSPTSSRTSSLGSGGPDCAITVKSPGREPGRDHLNGVAMNVR
TGSAQADGSDSEKP

Sequence length

3014

Interactions

View interactions

186

Show/Hide Causal Diseases (2)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Lymphatic malformation	Likely pathogenic; Pathogenic	rs1569227576, rs1569133268, rs1569226110, rs1569141899, rs1569124017	RCV001787353 RCV001787354 RCV001787355 RCV001787356 RCV001787357
Lymphatic malformation 9	Pathogenic; Likely pathogenic	rs2147265140, rs2147324428, rs754833774, rs1569227576, rs1569141899, rs1569124017	RCV001418322 RCV001418328 RCV004017204 RCV001418327 RCV001418323 RCV001418325

Show/Hide Unknown Diseases (30)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Abnormality of neuronal migration	Benign	rs551678757, rs367691326	RCV000201387 RCV000201329
Bladder exstrophy-epispadias-cloacal extrophy complex	Benign; Likely benign	rs199688538	RCV004556101
CELSR1-associated congenital heartdefects	Conflicting classifications of pathogenicity	rs1017161806	RCV002266856
CELSR1-related disorder	Conflicting classifications of pathogenicity; Benign; Uncertain significance; Likely benign	rs142438731, rs6008778, rs35364389, rs8141744, rs4044210, rs75983687, rs140558529, rs142090496, rs2518290250, rs145197157, rs368495315, rs144122307, rs2518410577, rs560689105, rs775270009 View all (94 more)	RCV004741033 RCV003921263 RCV003975854 RCV003968452 RCV003968453 RCV003976047 RCV003931298 RCV003903653 RCV003928908 RCV004741455 RCV003427700 RCV003966311 RCV003405786 RCV003420855 RCV003393071 RCV003397243 RCV003410790 RCV003412198 RCV003402938 RCV003919178 RCV003980918 RCV003929122 RCV003938984 RCV003929123 RCV003954176 RCV003896726 RCV003898942 RCV003897079 RCV003894729 RCV003921524 RCV003919829 RCV003974555 RCV003974595 RCV003983391 RCV003893795 RCV003896457 RCV003894354 RCV003906765 RCV003904525 RCV003904555 RCV003974111 RCV003982510 RCV003899752 RCV003914256 RCV003979377 RCV003973916 RCV003973979 RCV003973985 RCV003974027 RCV003911377 RCV003909609 RCV003921833 RCV003924656 RCV003934574 RCV003963969 RCV003972015 RCV003981212 RCV003981258 RCV003929476 RCV003941404 RCV003924782 RCV003939472 RCV003939622 RCV003939657 RCV003934492 RCV003934500 RCV003949813 RCV003959254 RCV003939359 RCV003949375 RCV003947106 RCV003922298 RCV003934153 RCV003942292 RCV003949118 RCV003949145 RCV003946821 RCV003944325 RCV003944637 RCV003944653 RCV003979066 RCV003979177 RCV003982222 RCV003983693 RCV003947266 RCV003971820 RCV003969430 RCV003976707 RCV003968996 RCV003966837 RCV003981299 RCV003976333 RCV003976407 RCV004738961 RCV003915967 RCV003903323 RCV003915968 RCV003978416 RCV003916095 RCV003916267 RCV003975665 RCV003940633 RCV003968012 RCV003948380 RCV003930691 RCV003955926 RCV003975553 RCV003912847 RCV003940799
Cervical cancer	Benign	rs75983687, rs11575871	RCV005923450 RCV005938678
Cholangiocarcinoma	Benign	rs11575871	RCV005938683
Clear cell carcinoma of kidney	Benign	rs75983687	RCV005923451
Colon adenocarcinoma	Benign	rs75983687	RCV005923447
Colorectal cancer	Benign	rs11575871	RCV005938679
EBV-positive nodal T- and NK-cell lymphoma	Likely benign	rs2518135871	RCV004558117
Familial cancer of breast	Benign	rs1009155	RCV005922495
Gastric cancer	Benign	rs75983687, rs11575871, rs115025562	RCV005923452 RCV005938681 RCV005909896
Hepatocellular carcinoma	Benign	rs75983687, rs11575871	RCV005923448 RCV005938677
Heterotaxy	Uncertain significance	rs201306786	RCV001732156
Long QT syndrome	Likely benign	rs796052178	RCV000190185
Lung cancer	Benign	rs75983687, rs11575871, rs115025562	RCV005923457 RCV005938684 RCV005909897
Malignant tumor of urinary bladder	Likely benign	rs144122307	RCV005931056
Mild to moderate NDD	Conflicting classifications of pathogenicity	rs746784282, rs2147447737	RCV005624171 RCV005624172
Neural tube defects, susceptibility to	risk factor	rs786201015, rs786201016	RCV000162244 RCV000162245
Nonpapillary renal cell carcinoma	Benign	rs75983687	RCV005923449
Ovarian serous cystadenocarcinoma	Benign; Uncertain significance	rs75983687, rs201891817	RCV005923453 RCV005932201
Sarcoma	Benign	rs11575871	RCV005938680
See cases	Uncertain significance	rs1327276393	RCV001848621
Severe NDD	Conflicting classifications of pathogenicity	rs931374138	RCV005624170
Severe NDD, epilepsy	Uncertain significance	rs201107590	RCV005624217
Thymoma	Benign	rs75983687, rs11575871	RCV005923455 RCV005938682
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	rs75983687, rs144122307	RCV005923456 RCV005931057
Uterine carcinosarcoma	Benign	rs75983687	RCV005923454
Uterine corpus endometrial carcinoma	Benign	rs75983687, rs11575871	RCV005923458 RCV005938685
Walker-Warburg congenital muscular dystrophy	Conflicting classifications of pathogenicity; Uncertain significance	rs931374138, rs201107590	RCV001267716 RCV001267723

Show/Hide Text Mining Associations (19)

Disease Name	Relationship Type	References
Associations from Text MiningDisease associations identified through Pubtator
Anencephaly	Associate	29573971
Atherosclerosis	Associate	25117632
Cakut	Associate	40774958
Carcinoma Intraductal Noninfiltrating	Associate	22887771
Cerebral Infarction	Associate	25117632, 25855559
Colonic Neoplasms	Associate	33428592
Hennekam lymphangiectasia lymphedema syndrome	Associate	34128868
Lymphatic Abnormalities	Associate	34128868
Lymphedema	Associate	34128868, 35948757
Lymphoma Mantle Cell	Associate	22150124
Multiple Organ Failure	Associate	39272989
Neoplasms	Associate	33176066, 35281032
Neural Tube Defects	Associate	29573971, 29618362
Pneumonia Pneumocystis	Associate	29573971
Polycystic Kidney Autosomal Dominant	Associate	29687770
Pulmonary Disease Chronic Obstructive	Associate	27854507
Spinal Dysraphism	Associate	29573971
Strabismus	Associate	33435129
Stroke	Associate	31113495

CELSR1 (cadherin EGF LAG seven-pass G-type receptor 1)