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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2121
Gene name Gene Name - the full gene name approved by the HGNC.	EvC ciliary complex subunit 1
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EVC
Synonyms (NCBI Gene) Gene synonyms aliases	DWF-1, EVC1, EVCL
Chromosome Chromosome number	4
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	4p16.2
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a protein containing a leucine zipper and a transmembrane domain. This gene has been implicated in both Ellis-van Creveld syndrome (EvC) and Weyers acrodental dysostosis. [provided by RefSeq, Jul 2008]

Show/Hide all(79)

SNP ID	Visualize variation	Clinical significance	Consequence
rs35401386	G>A,C,T	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs41269547	A>G	Benign-likely-benign, likely-benign, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs41269549	G>A	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic upstream transcript variant, missense variant, coding sequence variant, non coding transcript variant
rs41269557	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121908424	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs121908425	C>A,T	Pathogenic, likely-benign	Stop gained, coding sequence variant, synonymous variant, non coding transcript variant
rs121908426	T>C	Pathogenic-likely-pathogenic	Missense variant, coding sequence variant, non coding transcript variant, intron variant
rs141755737	C>T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs145300726	C>G	Uncertain-significance, likely-pathogenic	Missense variant, intron variant, non coding transcript variant, coding sequence variant
rs146475474	->C	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs148418233	G>A,T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, non coding transcript variant
rs150373930	G>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs150814290	G>C	Likely-pathogenic	Splice acceptor variant, intron variant
rs151293705	G>A	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant, non coding transcript variant
rs199916502	C>T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, non coding transcript variant, missense variant
rs527255616	->T	Pathogenic	Coding sequence variant, stop gained, non coding transcript variant, intron variant
rs550411377	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs587776619	T>-	Pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, upstream transcript variant, genic upstream transcript variant
rs748523193	C>A,T	Pathogenic, likely-pathogenic	Genic upstream transcript variant, synonymous variant, coding sequence variant, stop gained, non coding transcript variant
rs750565190	T>A,C	Likely-pathogenic	Genic upstream transcript variant, missense variant, upstream transcript variant, coding sequence variant, non coding transcript variant
rs751772225	C>T	Pathogenic	Non coding transcript variant, genic downstream transcript variant, coding sequence variant, stop gained
rs753014919	C>-	Pathogenic	Frameshift variant, non coding transcript variant, genic downstream transcript variant, coding sequence variant
rs753317536	G>A,C	Likely-pathogenic	Genic upstream transcript variant, intron variant
rs755381180	AAG>-	Pathogenic, likely-pathogenic	Non coding transcript variant, intron variant, coding sequence variant, inframe deletion
rs758387379	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Intron variant, genic downstream transcript variant
rs759106605	C>-	Pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs760607210	G>-	Likely-pathogenic	Coding sequence variant, frameshift variant, non coding transcript variant
rs762795511	C>G	Pathogenic	Upstream transcript variant, coding sequence variant, genic upstream transcript variant, stop gained, non coding transcript variant
rs764397417	G>T	Likely-pathogenic	Coding sequence variant, stop gained, non coding transcript variant, genic downstream transcript variant
rs765269619	C>G,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, non coding transcript variant, stop gained, synonymous variant
rs767913372	CT>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs768485560	C>-	Pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant
rs773019082	G>A	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs777852863	A>-,AA	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant, upstream transcript variant
rs779275317	CAAAGGTCCACGCGGTGTGTCCT>-	Likely-pathogenic	Non coding transcript variant, intron variant, genic downstream transcript variant, coding sequence variant, splice acceptor variant
rs779915989	G>A,T	Likely-pathogenic	Stop gained, coding sequence variant, non coding transcript variant, missense variant
rs781705295	C>T	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs794726665	G>A,T	Pathogenic	Genic downstream transcript variant, intron variant
rs794726666	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant, non coding transcript variant
rs896581899	C>T	Uncertain-significance, likely-pathogenic	Stop gained, intron variant, coding sequence variant, genic downstream transcript variant, non coding transcript variant
rs909612975	A>G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs967986192	C>G,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, genic downstream transcript variant, non coding transcript variant, coding sequence variant
rs1007534611	G>T	Pathogenic-likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1017946059	G>A	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, non coding transcript variant, genic upstream transcript variant, coding sequence variant
rs1057517899	C>T	Likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, stop gained
rs1169539647	G>-	Likely-pathogenic	Coding sequence variant, splice donor variant, non coding transcript variant, genic downstream transcript variant
rs1262933856	G>A	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1293098417	A>C,G	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs1300178432	CAGGCTTTTCA>-	Likely-pathogenic	Coding sequence variant, intron variant, splice acceptor variant, non coding transcript variant
rs1363547577	G>A	Likely-pathogenic	Genic upstream transcript variant, splice acceptor variant
rs1407007311	C>T	Uncertain-significance, likely-pathogenic	Genic upstream transcript variant, coding sequence variant, non coding transcript variant, missense variant
rs1424976594	A>G	Pathogenic-likely-pathogenic	Genic downstream transcript variant, intron variant
rs1437174284	C>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, frameshift variant, genic upstream transcript variant
rs1446547358	C>T	Uncertain-significance, pathogenic	Genic downstream transcript variant, stop gained, non coding transcript variant, coding sequence variant
rs1485152854	G>A,C	Likely-pathogenic	Upstream transcript variant, splice acceptor variant, genic upstream transcript variant
rs1553865346	G>T	Likely-pathogenic	Non coding transcript variant, coding sequence variant, synonymous variant, genic upstream transcript variant
rs1553867117	->A	Likely-pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant, genic upstream transcript variant
rs1553867138	G>A	Likely-pathogenic	Splice donor variant, genic upstream transcript variant
rs1553871764	T>-	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1553871792	->A	Likely-pathogenic	Coding sequence variant, non coding transcript variant, genic upstream transcript variant, upstream transcript variant, frameshift variant
rs1553871866	T>G	Likely-pathogenic	Upstream transcript variant, splice donor variant, genic upstream transcript variant
rs1553873138	G>C	Likely-pathogenic	Intron variant, splice donor variant
rs1553873969	->AGCC	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553876034	->GAACAGAGAAG	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553876813	->T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant
rs1553876870	->A	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1553886849	A>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1553889992	C>T	Pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553891368	G>T	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553891936	C>T	Likely-pathogenic	Non coding transcript variant, stop gained, coding sequence variant, genic downstream transcript variant
rs1553892090	T>C	Likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs1553893423	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553894457	G>A	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1553895755	C>-	Likely-pathogenic	Frameshift variant, non coding transcript variant, coding sequence variant, genic downstream transcript variant
rs1553895776	G>C	Likely-pathogenic	Splice donor variant, genic downstream transcript variant
rs1560340993	C>-	Pathogenic	Non coding transcript variant, coding sequence variant, frameshift variant
rs1577395250	->A	Pathogenic	Genic upstream transcript variant, frameshift variant, upstream transcript variant, non coding transcript variant, coding sequence variant
rs1577638781	G>-	Pathogenic	Genic downstream transcript variant, frameshift variant, non coding transcript variant, coding sequence variant
rs1577663625	CAGGATGCTGTCCCAGCAGAAGAGGT>-	Likely-pathogenic	Intron variant, genic downstream transcript variant, non coding transcript variant, splice acceptor variant, coding sequence variant

Show/Hide all(211)

miRTarBase ID	miRNA	Experiments	Reference
MIRT018424	hsa-miR-335-5p	Microarray	18185580
MIRT042772	hsa-miR-339-5p	CLASH	23622248
MIRT037807	hsa-miR-455-3p	CLASH	23622248
MIRT691894	hsa-miR-2278	HITS-CLIP	23313552
MIRT691893	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT691892	hsa-miR-4459	HITS-CLIP	23313552
MIRT691891	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT691890	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691889	hsa-miR-4435	HITS-CLIP	23313552
MIRT680944	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT680943	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT680942	hsa-miR-940	HITS-CLIP	23706177
MIRT680941	hsa-miR-3929	HITS-CLIP	23706177
MIRT680940	hsa-miR-4419b	HITS-CLIP	23706177
MIRT680939	hsa-miR-4478	HITS-CLIP	23706177
MIRT680938	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT680937	hsa-miR-4667-5p	HITS-CLIP	23706177
MIRT680936	hsa-miR-4700-5p	HITS-CLIP	23706177
MIRT680935	hsa-miR-8089	HITS-CLIP	23706177
MIRT680934	hsa-miR-1827	HITS-CLIP	23706177
MIRT680933	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT680932	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT680931	hsa-miR-873-5p	HITS-CLIP	23706177
MIRT680930	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT680929	hsa-miR-3175	HITS-CLIP	23706177
MIRT680928	hsa-miR-1343-5p	HITS-CLIP	23706177
MIRT680927	hsa-miR-939-5p	HITS-CLIP	23706177
MIRT680926	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680925	hsa-miR-3150a-3p	HITS-CLIP	23706177
MIRT680924	hsa-miR-6763-5p	HITS-CLIP	23706177
MIRT680923	hsa-miR-665	HITS-CLIP	23706177
MIRT691894	hsa-miR-2278	HITS-CLIP	23313552
MIRT691893	hsa-miR-4768-3p	HITS-CLIP	23313552
MIRT691892	hsa-miR-4459	HITS-CLIP	23313552
MIRT691891	hsa-miR-4433a-3p	HITS-CLIP	23313552
MIRT691890	hsa-miR-3190-5p	HITS-CLIP	23313552
MIRT691889	hsa-miR-4435	HITS-CLIP	23313552
MIRT680944	hsa-miR-6808-5p	HITS-CLIP	23706177
MIRT680943	hsa-miR-6893-5p	HITS-CLIP	23706177
MIRT680942	hsa-miR-940	HITS-CLIP	23706177
MIRT680941	hsa-miR-3929	HITS-CLIP	23706177
MIRT680940	hsa-miR-4419b	HITS-CLIP	23706177
MIRT680939	hsa-miR-4478	HITS-CLIP	23706177
MIRT680938	hsa-miR-4649-3p	HITS-CLIP	23706177
MIRT680937	hsa-miR-4667-5p	HITS-CLIP	23706177
MIRT680936	hsa-miR-4700-5p	HITS-CLIP	23706177
MIRT680935	hsa-miR-8089	HITS-CLIP	23706177
MIRT680934	hsa-miR-1827	HITS-CLIP	23706177
MIRT680933	hsa-miR-485-5p	HITS-CLIP	23706177
MIRT680932	hsa-miR-6884-5p	HITS-CLIP	23706177
MIRT680931	hsa-miR-873-5p	HITS-CLIP	23706177
MIRT680930	hsa-miR-7160-5p	HITS-CLIP	23706177
MIRT680929	hsa-miR-3175	HITS-CLIP	23706177
MIRT680928	hsa-miR-1343-5p	HITS-CLIP	23706177
MIRT680927	hsa-miR-939-5p	HITS-CLIP	23706177
MIRT680926	hsa-miR-6825-5p	HITS-CLIP	23706177
MIRT680925	hsa-miR-3150a-3p	HITS-CLIP	23706177
MIRT680924	hsa-miR-6763-5p	HITS-CLIP	23706177
MIRT680923	hsa-miR-665	HITS-CLIP	23706177
MIRT972147	hsa-miR-1193	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972149	hsa-miR-1284	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT972153	hsa-miR-3064-5p	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT972155	hsa-miR-3155	CLIP-seq
MIRT972156	hsa-miR-3155b	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972159	hsa-miR-329	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT972161	hsa-miR-362-3p	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT972163	hsa-miR-3941	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT972165	hsa-miR-4433	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT972170	hsa-miR-4687-3p	CLIP-seq
MIRT972171	hsa-miR-4710	CLIP-seq
MIRT972172	hsa-miR-4719	CLIP-seq
MIRT972173	hsa-miR-4786-3p	CLIP-seq
MIRT972174	hsa-miR-4789-5p	CLIP-seq
MIRT972175	hsa-miR-4792	CLIP-seq
MIRT972176	hsa-miR-484	CLIP-seq
MIRT972177	hsa-miR-507	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT972180	hsa-miR-557	CLIP-seq
MIRT972181	hsa-miR-603	CLIP-seq
MIRT972182	hsa-miR-671-5p	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT972184	hsa-miR-939	CLIP-seq
MIRT1548446	hsa-miR-1207-5p	CLIP-seq
MIRT1548447	hsa-miR-4763-3p	CLIP-seq
MIRT1548446	hsa-miR-1207-5p	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT1988001	hsa-miR-1976	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT1988002	hsa-miR-3153	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT1988003	hsa-miR-370	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT1988004	hsa-miR-3925-3p	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT1988005	hsa-miR-4268	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT1988006	hsa-miR-4448	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT1988007	hsa-miR-4514	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT1988008	hsa-miR-4645-5p	CLIP-seq
MIRT1988009	hsa-miR-4673	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT1988010	hsa-miR-4692	CLIP-seq
MIRT1988011	hsa-miR-4736	CLIP-seq
MIRT1988012	hsa-miR-4757-5p	CLIP-seq
MIRT1548447	hsa-miR-4763-3p	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT1988014	hsa-miR-552	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT972148	hsa-miR-1266	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT2222461	hsa-miR-1294	CLIP-seq
MIRT972151	hsa-miR-2114	CLIP-seq
MIRT972152	hsa-miR-24	CLIP-seq
MIRT2222462	hsa-miR-2681	CLIP-seq
MIRT972154	hsa-miR-3137	CLIP-seq
MIRT972157	hsa-miR-3160-5p	CLIP-seq
MIRT2222463	hsa-miR-3176	CLIP-seq
MIRT2222464	hsa-miR-3178	CLIP-seq
MIRT972158	hsa-miR-326	CLIP-seq
MIRT972160	hsa-miR-330-5p	CLIP-seq
MIRT2222465	hsa-miR-3612	CLIP-seq
MIRT2222466	hsa-miR-3650	CLIP-seq
MIRT2222467	hsa-miR-3663-5p	CLIP-seq
MIRT972162	hsa-miR-378g	CLIP-seq
MIRT2222468	hsa-miR-3922-3p	CLIP-seq
MIRT972164	hsa-miR-3942-3p	CLIP-seq
MIRT2222469	hsa-miR-4316	CLIP-seq
MIRT972166	hsa-miR-4437	CLIP-seq
MIRT2222470	hsa-miR-4443	CLIP-seq
MIRT2222471	hsa-miR-4446-3p	CLIP-seq
MIRT972167	hsa-miR-4486	CLIP-seq
MIRT2222472	hsa-miR-4492	CLIP-seq
MIRT2222473	hsa-miR-4498	CLIP-seq
MIRT972168	hsa-miR-4518	CLIP-seq
MIRT2222474	hsa-miR-4527	CLIP-seq
MIRT972169	hsa-miR-4674	CLIP-seq
MIRT972170	hsa-miR-4687-3p	CLIP-seq
MIRT2222475	hsa-miR-4743	CLIP-seq
MIRT2222476	hsa-miR-4753-3p	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT2222477	hsa-miR-4802-5p	CLIP-seq
MIRT2222478	hsa-miR-490-5p	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT2222479	hsa-miR-647	CLIP-seq
MIRT2222480	hsa-miR-650	CLIP-seq
MIRT2222481	hsa-miR-762	CLIP-seq
MIRT972183	hsa-miR-766	CLIP-seq
MIRT2222482	hsa-miR-942	CLIP-seq
MIRT1988001	hsa-miR-1976	CLIP-seq
MIRT2387565	hsa-miR-331-3p	CLIP-seq
MIRT1988011	hsa-miR-4736	CLIP-seq
MIRT1988013	hsa-miR-4768-5p	CLIP-seq
MIRT2222482	hsa-miR-942	CLIP-seq
MIRT972150	hsa-miR-1285	CLIP-seq
MIRT972178	hsa-miR-548ah	CLIP-seq
MIRT972179	hsa-miR-548t	CLIP-seq
MIRT2526043	hsa-miR-1273c	CLIP-seq
MIRT2526044	hsa-miR-204	CLIP-seq
MIRT2526045	hsa-miR-211	CLIP-seq
MIRT972155	hsa-miR-3155	CLIP-seq
MIRT972156	hsa-miR-3155b	CLIP-seq
MIRT2526046	hsa-miR-3163	CLIP-seq
MIRT2526047	hsa-miR-3613-3p	CLIP-seq
MIRT2526048	hsa-miR-3614-3p	CLIP-seq
MIRT2526049	hsa-miR-3683	CLIP-seq
MIRT2526050	hsa-miR-4462	CLIP-seq
MIRT2526051	hsa-miR-4521	CLIP-seq
MIRT1988008	hsa-miR-4645-5p	CLIP-seq
MIRT1988009	hsa-miR-4673	CLIP-seq
MIRT2526052	hsa-miR-4684-5p	CLIP-seq
MIRT2526053	hsa-miR-4698	CLIP-seq
MIRT2526054	hsa-miR-4755-3p	CLIP-seq
MIRT2526055	hsa-miR-4755-5p	CLIP-seq
MIRT972176	hsa-miR-484	CLIP-seq
MIRT2526056	hsa-miR-548p	CLIP-seq
MIRT2526057	hsa-miR-623	CLIP-seq
MIRT2526058	hsa-miR-7	CLIP-seq
MIRT2526044	hsa-miR-204	CLIP-seq
MIRT2526045	hsa-miR-211	CLIP-seq
MIRT2526046	hsa-miR-3163	CLIP-seq
MIRT2526050	hsa-miR-4462	CLIP-seq
MIRT2526051	hsa-miR-4521	CLIP-seq
MIRT2526052	hsa-miR-4684-5p	CLIP-seq
MIRT2526053	hsa-miR-4698	CLIP-seq
MIRT2526055	hsa-miR-4755-5p	CLIP-seq
MIRT2526056	hsa-miR-548p	CLIP-seq
MIRT2526057	hsa-miR-623	CLIP-seq
MIRT2526058	hsa-miR-7	CLIP-seq

Show/Hide all(22)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001501	Process	Skeletal system development	TAS	10700184
GO:0003416	Process	Endochondral bone growth	IEA
GO:0003416	Process	Endochondral bone growth	ISS
GO:0005737	Component	Cytoplasm	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005886	Component	Plasma membrane	IEA
GO:0005929	Component	Cilium	IDA	21356043
GO:0005929	Component	Cilium	IEA
GO:0007224	Process	Smoothened signaling pathway	IEA
GO:0007517	Process	Muscle organ development	TAS	10700184
GO:0016020	Component	Membrane	IEA
GO:0036064	Component	Ciliary basal body	IEA
GO:0036064	Component	Ciliary basal body	ISS
GO:0042995	Component	Cell projection	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	IEA
GO:0045880	Process	Positive regulation of smoothened signaling pathway	ISS
GO:0051216	Process	Cartilage development	IEA
GO:0060170	Component	Ciliary membrane	IBA
GO:0060170	Component	Ciliary membrane	IEA
GO:0060170	Component	Ciliary membrane	TAS
GO:0098797	Component	Plasma membrane protein complex	IBA
GO:0098797	Component	Plasma membrane protein complex	IEA

MIM	HGNC	e!Ensembl
604831	3497	ENSG00000072840

Protein

UniProt ID

P57679

Protein name

EvC complex member EVC (DWF-1) (Ellis-van Creveld syndrome protein)

Protein function

Component of the EvC complex that positively regulates ciliary Hedgehog (Hh) signaling. Involved in endochondral growth and skeletal development.

Family and domains

Tissue specificity

TISSUE SPECIFICITY: Found in the developing vertebral bodies, ribs, upper and lower limbs, heart, kidney, lung.

Sequence

MARGGAACKSDARLLLGRDALRPAPALLAPAVLLGAALGLGLGLWLGCRAGRQRTRHQKD
DTQNLLKNLESNAQTPSETGSPSRRRKREVQMSKDKEAVDECEPPSNSNITAFALKAKVI
YPINQKFRPLADGSSNPSLHENLKQAVLPHQPVEASPSSSLGSLSQGEKDDCSSSSSVHS
ATSDDRFLSRTFLRVNAFPEVLACESVDVDLCIYSLHLKDLLHLDTALRQEKHMMFIQIF
KMCLLDLLPKKKSDDELYQKILSKQEKDLEELEKGLQVKLSNTEMSGAGDSEYITLADVE
KKEREYSEQLIDNMEAFWKQMANIQHFLVDQFKCSSSKARQLMMTLTERMIAAEGLLCDS
QELQALDALERTMGRAHMAKVIEFLKLQVQEETRCRLAAISHGLELLAGEGKLSGRQKEE
LLTQQHKAFWQEAERFSREFVQRGKDLVTASLAHQVEGTAKLTLAQEEEQRSFLAEAQPT
ADPEKFLEAFHEVLERQRLMQCDLEEEENVRATEAVVALCQELYFSTVDTFQKFVDALFL
QTLPGMTGLPPEECDYLRQEVQENAAWQLGKSNRFRRQQWKLFQELLEQDQQVWMEECAL
SSVLQTHLREDHEGTIRGVLGRLGGLTEESTRCVLQGHDLLLRSALRRLALRGNALATLT
QMRLSGKKHLLQELREQRALEQGSSQCLDEHQWQLLRALEARVLEEASRLEEEAQQTRLQ
LQQRLLAEAQEVGQLLQQHMECAIGQALLVHARNAATKSRAKDRDDFKRTLMEAAVESVY
VTSAGVSRLVQAYYQQIGRIMEDHEERKLQHLKTLQGERMENYKLRKKQELSNPSSGSRT
AGGAHETSQAVHQRMLSQQKRFLAQFPVHQQMRLHAQQQQAGVMDLLEAQLETQLQEAEQ
NFISELAALARVPLAESKLLPAKRGLLEKPLRTKRKKPLPQERGDLGVPNNEDLASGDQT
SGSLSSKRLSQQESEAGDSGNSKKMLKRRSNL

Sequence length

992

Interactions

View interactions

	KEGG		Reactome
	Hedgehog signaling pathway		Hedgehog 'on' state Activation of SMO

Show/Hide Causal Diseases (2)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Ellis-Van Creveld Syndrome	ellis-van creveld syndrome	rs1300178432, rs767913372, rs1553894457, rs1553865346, rs794726665, rs909612975, rs1553876813, rs1553895776, rs1553876870, rs1262933856, rs764397417, rs748523193, rs1437174284, rs1485152854, rs121908424 View all (41 more)	N/A
Short-Rib Thoracic Dysplasia With Or Without Polydactyly	Short-rib thoracic dysplasia 6 with or without polydactyly	rs748523193, rs794726665, rs755381180, rs121908425	N/A

Show/Hide Unknown Diseases (2)

Disease merge term	Disease name	Evidence	References	Source
Unknown Includes: (1) ClinVar NON-pathogenic variants (Uncertain, Benign, Conflicting, VUS), (2) GenCC associations, (3) GWAS associations, (4) CBGDA evidence-based associations. NOTE: Diseases with pathogenic evidence are excluded to avoid conflicts.
Nephronophthisis	nephronophthisis	N/A	N/A	ClinVar
Prostate cancer	Prostate cancer (SNP x SNP interaction)	N/A	N/A	GWAS

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Ciliopathies	Associate	33875766
Cleft Lip	Associate	20087401
Cleft Palate	Associate	20087401
Congenital Microtia	Associate	24983964
Diabetes Mellitus Type 2	Associate	29273463
Dyslexia	Associate	36514817
Dyslexia Acquired	Associate	36514817
Ellis Van Creveld Syndrome	Associate	17392984, 18947413, 20184732, 25908617, 29229899, 31338997, 36932784, 37157924, 37684519, 38531627
Heart Diseases	Associate	17392984
Heart Septal Defects Atrial	Associate	29229899
Holt Oram syndrome	Associate	18947413
Infections	Associate	35403229
Leukemia Lymphoma Adult T Cell	Stimulate	24996003
Leukemia T Cell	Stimulate	24996003
Neoplasms	Associate	24996003
Polydactyly Postaxial	Associate	37684519
Short Rib Polydactyly Syndrome	Stimulate	36599940
Weyers acrofacial dysostosis	Associate	38531627

EVC (EvC ciliary complex subunit 1)