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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID	2121
Gene name	EvC ciliary complex subunit 1
Gene symbol	EVC
Synonyms (NCBI Gene)	DWF-1EVC1EVCL
Chromosome	4
Chromosome location	4p16.2
Summary	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

211

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

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

3095

Show/Hide Causal Diseases (8)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chronic lymphocytic leukemia/small lymphocytic lymphoma	Likely pathogenic; Pathogenic	rs767186464	RCV005912598
Clear cell carcinoma of kidney	Likely pathogenic	rs1293098417	RCV005901984
Curry-Hall syndrome	Pathogenic; Likely pathogenic	rs1722986802, rs1381525157, rs767186464, rs2152387946, rs762136199, rs1553871764, rs1729663828, rs745627738, rs2152076522, rs2152076745, rs2152094799, rs2152289369, rs2152345583, rs561852174, rs2152375437 View all (162 more)	RCV001380195 RCV002611189 RCV001377982 RCV001378553 RCV001382945 RCV001381767 RCV001385786 RCV001385169 RCV001385913 RCV001388340 RCV001385204 RCV001388456 RCV001381686 RCV001387037 RCV001380697 RCV001882699 RCV002034559 RCV002541450 RCV001988728 RCV002031272 RCV002046312 RCV001993000 RCV001899273 RCV001892851 RCV001941809 RCV001917509 RCV001987550 RCV001953852 RCV001898179 RCV001903068 RCV002007284 RCV001864500 RCV002037849 RCV001993171 RCV002000008 RCV002037830 RCV002007593 RCV002002509 RCV001941596 RCV001877849 RCV001951253 RCV001905559 RCV001975003 RCV001956415 RCV001956416 RCV001953649 RCV001972595 RCV001883666 RCV001985091 RCV001956567 RCV001956568 RCV001958682 RCV003099152 RCV003090305 RCV002598826 RCV002651797 RCV002651798 RCV002651800 RCV002717207 RCV002775656 RCV001851677 RCV001045109 RCV000807465 RCV001383029 RCV003764530 RCV002800716 RCV002801841 RCV002838926 RCV002837571 RCV002830096 RCV002875515 RCV002875563 RCV002853246 RCV002876450 RCV002876169 RCV002872361 RCV002954055 RCV003020449 RCV003010421 RCV003018999 RCV003006205 RCV003038851 RCV003029107 RCV003055156 RCV003052019 RCV003032980 RCV003322662 RCV003778311 RCV003785451 RCV003785813 RCV003784600 RCV003782185 RCV003781030 RCV003795604 RCV003792862 RCV003798259 RCV003794406 RCV003791851 RCV003807998 RCV003806451 RCV003806902 RCV003799870 RCV003800130 RCV003805954 RCV003798870 RCV003799137 RCV003799138 RCV003803104 RCV003801042 RCV003801339 RCV003808564 RCV003808879 RCV003809074 RCV003804575 RCV003804596 RCV003802453 RCV003817999 RCV003813527 RCV003815726 RCV003810058 RCV003813280 RCV003813319 RCV003812849 RCV003818126 RCV003810289 RCV002488850 RCV001045278 RCV000526470 RCV003766903 RCV001050511 RCV001389791 RCV001383173 RCV000548054 RCV001382208 RCV001049990 RCV000637036 RCV000695327 RCV002532111 RCV001387632 RCV001235220 RCV000807466 RCV001229451 RCV001038169 RCV002531254 RCV002532061 RCV001213995 RCV001378366 RCV001383028 RCV001047674 RCV003767956 RCV002531324 RCV003767997 RCV001855487 RCV000804230 RCV001202364 RCV003767978 RCV000693001 RCV005213381 RCV001385924 RCV001856175 RCV003768448 RCV000800109 RCV000800691 RCV000824617 RCV001052409 RCV001041122 RCV001035927 RCV001054953 RCV001068092 RCV001048504 RCV001389687 RCV001222961 RCV001223333 RCV001204407 RCV001201711 RCV001210514 RCV001211362 RCV001214558 RCV001223287 RCV001223607 RCV001228381 RCV001247905 RCV001243415 RCV001241196 RCV001293691
Ellis-van Creveld syndrome	Pathogenic; Likely pathogenic	rs1722986802, rs1381525157, rs767186464, rs2152387946, rs762136199, rs1553871764, rs1729663828, rs745627738, rs2152076522, rs2152076745, rs2152094799, rs2152289369, rs2152345583, rs561852174, rs2152375437 View all (226 more)	RCV001312198 RCV002611189 RCV001377982 RCV001378553 RCV001382945 RCV001381767 RCV001385786 RCV001385169 RCV001385913 RCV001388340 RCV001385204 RCV001388456 RCV001381686 RCV001387037 RCV001380697 RCV001580697 RCV001580698 RCV001580699 RCV002034559 RCV001806404 RCV001988728 RCV002031272 RCV002046312 RCV001993000 RCV001899273 RCV001892851 RCV001941809 RCV001917509 RCV001987550 RCV001953852 RCV001898179 RCV001903068 RCV002007284 RCV001864500 RCV002037849 RCV001993171 RCV002000008 RCV002037830 RCV002007593 RCV002002509 RCV001941596 RCV001877849 RCV001951253 RCV001905559 RCV001975003 RCV001956415 RCV001956416 RCV001953649 RCV001972595 RCV001883666 RCV001985091 RCV001956567 RCV001956568 RCV001958682 RCV002306546 RCV002306599 RCV002306654 RCV002306758 RCV002306801 RCV002309548 RCV002309559 RCV002309633 RCV002309922 RCV002309951 RCV002307912 RCV002307946 RCV002308140 RCV002308172 RCV002308185 RCV002309081 RCV002309084 RCV002309138 RCV002309144 RCV002309231 RCV002309273 RCV002309382 RCV002309442 RCV002306859 RCV002306861 RCV002306901 RCV002306916 RCV002307032 RCV002307035 RCV002307157 RCV002307174 RCV002307252 RCV002307254 RCV002307255 RCV002310151 RCV002310158 RCV002310160 RCV002310181 RCV002310222 RCV002310228 RCV002310267 RCV002310287 RCV002310343 RCV002310458 RCV002310560 RCV002308415 RCV003090305 RCV002598826 RCV002651797 RCV002651798 RCV002651800 RCV002717207 RCV002775656 RCV000005666 RCV000005667 RCV000005668 RCV000005669 RCV000005672 RCV000005673 RCV002800716 RCV002801841 RCV002838926 RCV002837571 RCV002830096 RCV002875515 RCV002875563 RCV002853246 RCV002876450 RCV002876169 RCV002872361 RCV002954055 RCV003020449 RCV003010421 RCV003018999 RCV003006205 RCV003038851 RCV003029107 RCV003055156 RCV003052019 RCV003032980 RCV003777326 RCV003778311 RCV003785451 RCV003785813 RCV003784600 RCV003782185 RCV003781030 RCV003795604 RCV003792862 RCV003798259 RCV003794406 RCV003791851 RCV003807998 RCV003806451 RCV003806902 RCV003799870 RCV003800130 RCV003805954 RCV003798870 RCV003799137 RCV003799138 RCV003803104 RCV003801042 RCV003801339 RCV003808564 RCV003808879 RCV003809074 RCV003804575 RCV003804596 RCV003802453 RCV003817999 RCV003813527 RCV003815726 RCV003810058 RCV003813280 RCV003813319 RCV003812849 RCV003818126 RCV003810289 RCV003989943 RCV003990160 RCV000409380 RCV000411885 RCV001828380 RCV000665849 RCV000526470 RCV000516024 RCV000674284 RCV000527392 RCV001383173 RCV000548054 RCV000534638 RCV000578283 RCV000625587 RCV000625588 RCV000637036 RCV000666115 RCV000668921 RCV000674924 RCV000674181 RCV000666798 RCV000669809 RCV000671758 RCV000673841 RCV000664817 RCV000671655 RCV000666935 RCV000670126 RCV000671523 RCV000670543 RCV000667205 RCV000666044 RCV000672556 RCV000674216 RCV000674011 RCV000672688 RCV000673304 RCV000672495 RCV000668673 RCV000667482 RCV000672868 RCV000672542 RCV000669260 RCV000667721 RCV000673971 RCV000666228 RCV000665782 RCV000665984 RCV000669817 RCV000693001 RCV005213381 RCV000761603 RCV001856175 RCV003768448 RCV000790404 RCV000800109 RCV000800691 RCV000824617 RCV000991073 RCV000991074 RCV001052409 RCV001041122 RCV001035927 RCV001054953 RCV001068092 RCV001048504 RCV001175203 RCV001175204 RCV001222961 RCV001223333 RCV001204407 RCV001201711 RCV001210514 RCV001211362 RCV001214558 RCV001223287 RCV001223607 RCV001228381 RCV001247905 RCV001243415 RCV001241196 RCV005225361
EVC-associated disorder	Likely pathogenic; Pathogenic	rs1424976594	RCV005621974
EVC-related disorder	Likely pathogenic; Pathogenic	rs576076928, rs1560340266, rs1443064804, rs2475385732, rs1446547358, rs1553865348, rs779275317	RCV004752132 RCV003395319 RCV003419047 RCV003893384 RCV004547793 RCV003424269 RCV003403539
Hepatocellular carcinoma	Pathogenic	rs2152375437	RCV005866986
Short-rib thoracic dysplasia 6 with or without polydactyly	Likely pathogenic; Pathogenic	rs794726665, rs121908425, rs748523193, rs755381180	RCV000516013 RCV000516113 RCV000516149 RCV000515867

Show/Hide Unknown Diseases (11)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession
Unknown Diseases with uncertain, conflicting, or no pathogenic evidence in ClinVar
Cervical cancer	Benign	rs6854138, rs9637548	RCV005894317 RCV005902264
Cholangiocarcinoma	Benign	rs6854138	RCV005894324
Gastric cancer	Benign	rs6854138, rs9637548	RCV005894320 RCV005902265
Lung cancer	Benign	rs6854138, rs9637548	RCV005894325 RCV005902266
Malignant tumor of esophagus	Likely benign; Conflicting classifications of pathogenicity	rs73200154, rs35401386	RCV005916438 RCV005898701
Nephronophthisis	Benign; Likely benign	rs41269547	RCV001328200
Ovarian serous cystadenocarcinoma	Benign	rs6854138	RCV005894321
Sarcoma	Likely benign; Benign	rs73200154, rs6854138	RCV005916439 RCV005894319
Thymoma	Benign	rs6854138	RCV005894322
Thyroid cancer, nonmedullary, 1	Benign	rs6854138	RCV005894323
Uterine corpus endometrial carcinoma	Conflicting classifications of pathogenicity; Benign	rs35401386, rs9637548	RCV005898702 RCV005902267

Show/Hide Text Mining Associations (18)

Disease Name	Relationship Type	References
Associations from Text MiningDisease 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)