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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	346007
Gene name Gene Name - the full gene name approved by the HGNC.	Eyes shut homolog
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	EYS
Synonyms (NCBI Gene) Gene synonyms aliases	C6orf178, C6orf179, C6orf180, EGFL10, EGFL11, RP25, SPAM, bA166P24.2, bA307F22.3, bA74E24.1, dJ1018A4.2, dJ22I17.2, dJ303F19.1
Chromosome Chromosome number	6
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	6q12
Summary Summary of gene provided in NCBI Entrez Gene.	The product of this gene contains multiple epidermal growth factor (EGF)-like and LamG domains. The protein is expressed in the photoreceptor layer of the retina, and the gene is mutated in autosomal recessive retinitis pigmentosa. Multiple transcript var

Show/Hide all(124)

SNP ID	Visualize variation	Clinical significance	Consequence
rs12663916	G>A,T	Pathogenic, benign, likely-benign	Missense variant, synonymous variant, genic downstream transcript variant, coding sequence variant
rs112822256	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs137853189	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs142450703	C>T	Likely-pathogenic, uncertain-significance	Genic downstream transcript variant, missense variant, coding sequence variant
rs143327210	G>C	Benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs143994166	A>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs145102275	A>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs147641443	T>A,C	Likely-benign, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs148019592	T>C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, missense variant
rs181169439	T>C	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs182151153	G>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs182322608	A>G,T	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, synonymous variant
rs186499459	C>T	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs188093810	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs191846522	A>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs192059823	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant, genic downstream transcript variant
rs199740930	C>T	Likely-pathogenic, uncertain-significance	Splice donor variant, genic downstream transcript variant
rs200387978	G>A	Uncertain-significance, likely-pathogenic	Intron variant
rs201580493	A>T	Likely-pathogenic, benign-likely-benign, likely-benign	Coding sequence variant, missense variant, genic downstream transcript variant
rs201819948	G>A	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs201823777	C>T	Pathogenic	Coding sequence variant, stop gained
rs368458853	T>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant, genic downstream transcript variant
rs371032798	G>A,T	Pathogenic	Synonymous variant, stop gained, coding sequence variant, genic downstream transcript variant
rs372354156	A>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs373441420	C>A,T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs374714909	G>A	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs398123574	T>C,G	Conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant, genic downstream transcript variant
rs398123575	A>C	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236064	C>T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs527236065	->T	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236066	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236068	C>G,T	Pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs527236071	CA>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236072	C>A,T	Likely-pathogenic	Missense variant, coding sequence variant, stop gained
rs527236073	->CCTCTTGA	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236074	G>A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236075	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs527236076	A>T	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs527236077	T>A	Likely-pathogenic	Coding sequence variant, stop gained
rs527236078	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs549456693	C>A,G,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs747069281	TAT>-	Pathogenic	Coding sequence variant, inframe deletion
rs749103801	->T	Pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs749410700	G>A,T	Pathogenic	Stop gained, coding sequence variant, missense variant
rs749909863	C>T	Pathogenic, uncertain-significance	Coding sequence variant, missense variant, genic downstream transcript variant
rs750840208	->C	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs751629543	AGGAA>-	Pathogenic-likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs752683070	G>C	Pathogenic	Stop gained, coding sequence variant
rs752736741	C>T	Pathogenic	Genic downstream transcript variant, splice donor variant
rs752930400	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs752953889	A>-	Pathogenic, likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs758899480	C>T	Pathogenic	Splice donor variant, genic downstream transcript variant
rs760798455	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs761238771	TATAAGC>-	Pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs764163418	T>-,TT	Likely-pathogenic, pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant
rs764229134	GT>-	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs770111708	C>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs776204925	C>A	Likely-pathogenic	Missense variant, splice donor variant, coding sequence variant
rs776564041	C>T	Likely-pathogenic	Splice acceptor variant
rs777482895	A>G,T	Likely-pathogenic	Stop gained, synonymous variant, coding sequence variant
rs777735735	A>G	Likely-pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs778030177	T>C	Conflicting-interpretations-of-pathogenicity, likely-pathogenic	Missense variant, coding sequence variant
rs779983752	A>C	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs786205652	A>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs794727120	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, stop gained, coding sequence variant
rs794727631	G>A	Pathogenic	Stop gained, coding sequence variant
rs797045089	G>T	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs868349465	C>A,T	Pathogenic	Genic downstream transcript variant, coding sequence variant, missense variant
rs878853253	TCTTCACAGTCACCATA>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853349	AT>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs878853350	C>T	Pathogenic, likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs886042613	CT>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs886044304	AATG>-	Pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs902462590	C>T	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs919157306	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs928803207	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs930421180	G>A	Likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs983691310	C>T	Pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1064796020	C>-	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1167742176	C>G,T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1168101857	T>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1168129071	G>A,C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant, stop gained
rs1197105310	C>T	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs1197863938	G>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs1291867456	G>A,T	Likely-pathogenic, pathogenic	Stop gained, genic downstream transcript variant, missense variant, coding sequence variant
rs1305702728	C>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs1318739667	C>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1345460401	G>A,C	Pathogenic	Missense variant, coding sequence variant, stop gained
rs1346842287	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1391928253	G>A,T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant, synonymous variant
rs1435861529	C>T	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs1466666397	G>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1468020897	A>-	Pathogenic	Frameshift variant, coding sequence variant
rs1471994744	G>T	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained
rs1554152094	CTG>-	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant, intron variant
rs1554169630	GC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1554183432	G>C	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554183440	ACTGAGCCTGTCAATGGTGGCAGATT>TA	Likely-pathogenic	Inframe indel, genic downstream transcript variant, coding sequence variant, stop gained
rs1554204963	C>A	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554214453	A>T	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1554220416	GCATCAACAA>-	Likely-pathogenic, pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562079278	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562079314	AA>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1562109990	->T	Pathogenic	Coding sequence variant, stop gained
rs1562140604	ACTT>-	Likely-pathogenic, uncertain-significance	Splice donor variant, coding sequence variant, intron variant
rs1562154478	T>-	Pathogenic	Coding sequence variant, frameshift variant
rs1562263385	C>T	Pathogenic	Genic downstream transcript variant, coding sequence variant, stop gained
rs1582146096	T>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582176424	->T	Pathogenic	Coding sequence variant, frameshift variant
rs1582221424	TTTC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582249186	GGTTTTGCTGACACCT>AGAAA	Pathogenic	Coding sequence variant, frameshift variant
rs1582376398	CAGCCACTTAGAATTAACAGT>AAAAG	Pathogenic	Coding sequence variant, frameshift variant
rs1582376560	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1582376609	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1582571021	A>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582753394	CCTTTA>-	Likely-pathogenic	Genic downstream transcript variant, coding sequence variant, intron variant, splice donor variant
rs1582928662	A>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582929649	GAGT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582930081	GG>CT	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1582930536	->GC	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1582932583	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1583260302	G>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583277585	CCATT>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant
rs1583442540	AC>-	Pathogenic	Genic downstream transcript variant, coding sequence variant, frameshift variant

Show/Hide all(73)

miRTarBase ID	miRNA	Experiments	Reference
MIRT023100	hsa-miR-124-3p	Microarray	18668037
MIRT527609	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT527608	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT527607	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT527606	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT527609	hsa-miR-494-3p	PAR-CLIP	22012620
MIRT527608	hsa-miR-4680-5p	PAR-CLIP	22012620
MIRT527607	hsa-miR-376a-5p	PAR-CLIP	22012620
MIRT527606	hsa-miR-510-3p	PAR-CLIP	22012620
MIRT973855	hsa-miR-382	CLIP-seq
MIRT973856	hsa-miR-653	CLIP-seq
MIRT973857	hsa-miR-1246	CLIP-seq
MIRT973858	hsa-miR-129-5p	CLIP-seq
MIRT973859	hsa-miR-151-3p	CLIP-seq
MIRT973860	hsa-miR-181a	CLIP-seq
MIRT973861	hsa-miR-181b	CLIP-seq
MIRT973862	hsa-miR-181c	CLIP-seq
MIRT973863	hsa-miR-181d	CLIP-seq
MIRT973864	hsa-miR-23a	CLIP-seq
MIRT973865	hsa-miR-23b	CLIP-seq
MIRT973866	hsa-miR-23c	CLIP-seq
MIRT973867	hsa-miR-28-3p	CLIP-seq
MIRT973868	hsa-miR-297	CLIP-seq
MIRT973869	hsa-miR-30a	CLIP-seq
MIRT973870	hsa-miR-30b	CLIP-seq
MIRT973871	hsa-miR-30c	CLIP-seq
MIRT973872	hsa-miR-30d	CLIP-seq
MIRT973873	hsa-miR-30e	CLIP-seq
MIRT973874	hsa-miR-3122	CLIP-seq
MIRT973875	hsa-miR-3127-5p	CLIP-seq
MIRT973876	hsa-miR-3143	CLIP-seq
MIRT973877	hsa-miR-3149	CLIP-seq
MIRT973878	hsa-miR-3201	CLIP-seq
MIRT973879	hsa-miR-3607-3p	CLIP-seq
MIRT973880	hsa-miR-383	CLIP-seq
MIRT973881	hsa-miR-3913-5p	CLIP-seq
MIRT973882	hsa-miR-3918	CLIP-seq
MIRT973883	hsa-miR-410	CLIP-seq
MIRT973884	hsa-miR-4262	CLIP-seq
MIRT973885	hsa-miR-4282	CLIP-seq
MIRT973886	hsa-miR-4289	CLIP-seq
MIRT973887	hsa-miR-4427	CLIP-seq
MIRT973888	hsa-miR-450b-3p	CLIP-seq
MIRT973889	hsa-miR-4699-5p	CLIP-seq
MIRT973890	hsa-miR-4709-3p	CLIP-seq
MIRT973891	hsa-miR-4713-3p	CLIP-seq
MIRT973892	hsa-miR-4729	CLIP-seq
MIRT973893	hsa-miR-4791	CLIP-seq
MIRT973894	hsa-miR-495	CLIP-seq
MIRT973895	hsa-miR-496	CLIP-seq
MIRT973896	hsa-miR-513a-3p	CLIP-seq
MIRT973897	hsa-miR-543	CLIP-seq
MIRT973898	hsa-miR-579	CLIP-seq
MIRT973899	hsa-miR-628-5p	CLIP-seq
MIRT973900	hsa-miR-638	CLIP-seq
MIRT973901	hsa-miR-769-3p	CLIP-seq
MIRT973885	hsa-miR-4282	CLIP-seq
MIRT1988504	hsa-miR-1305	CLIP-seq
MIRT1988505	hsa-miR-137	CLIP-seq
MIRT973876	hsa-miR-3143	CLIP-seq
MIRT1988506	hsa-miR-3647-3p	CLIP-seq
MIRT973886	hsa-miR-4289	CLIP-seq
MIRT1988507	hsa-miR-4307	CLIP-seq
MIRT1988508	hsa-miR-4522	CLIP-seq
MIRT1988509	hsa-miR-4698	CLIP-seq
MIRT1988510	hsa-miR-4760-3p	CLIP-seq
MIRT1988511	hsa-miR-4760-5p	CLIP-seq
MIRT1988512	hsa-miR-4762-5p	CLIP-seq
MIRT1988513	hsa-miR-4796-5p	CLIP-seq
MIRT973897	hsa-miR-543	CLIP-seq
MIRT973899	hsa-miR-628-5p	CLIP-seq
MIRT2222955	hsa-miR-3646	CLIP-seq
MIRT2222956	hsa-miR-494	CLIP-seq

Show/Hide all(15)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001750	Component	Photoreceptor outer segment	IEA
GO:0005509	Function	Calcium ion binding	IEA
GO:0005576	Component	Extracellular region	IEA
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005856	Component	Cytoskeleton	IEA
GO:0005929	Component	Cilium	IEA
GO:0007601	Process	Visual perception	IEA
GO:0033165	Component	Interphotoreceptor matrix	IEA
GO:0042995	Component	Cell projection	IEA
GO:0043403	Process	Skeletal muscle tissue regeneration	IMP	21826682
GO:0048589	Process	Developmental growth	IEA
GO:0050877	Process	Nervous system process	IEA
GO:0050908	Process	Detection of light stimulus involved in visual perception	IMP	18836446, 18976725, 20696082, 22363543
GO:0070062	Component	Extracellular exosome	HDA	19056867

MIM	HGNC	e!Ensembl
612424	21555	ENSG00000188107

Protein

UniProt ID

Q5T1H1

Protein name

Protein eyes shut homolog (Epidermal growth factor-like protein 10) (EGF-like protein 10) (Epidermal growth factor-like protein 11) (EGF-like protein 11) (Protein spacemaker homolog)

Protein function

Required to maintain the integrity of photoreceptor cells (PubMed:18836446). Specifically required for normal morphology of the photoreceptor ciliary pocket, and might thus facilitate protein trafficking between the photoreceptor inner and outer

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00008	EGF	176 → 210	EGF-like domain	Domain
PF00008	EGF	685 → 712	EGF-like domain	Domain
PF12661	hEGF	742 → 763	Human growth factor-like EGF	Domain
PF00008	EGF	775 → 805	EGF-like domain	Domain
PF12661	hEGF	899 → 920	Human growth factor-like EGF	Domain
PF00008	EGF	932 → 962	EGF-like domain	Domain
PF00008	EGF	1008 → 1038	EGF-like domain	Domain
PF12661	hEGF	1088 → 1109	Human growth factor-like EGF	Domain
PF00008	EGF	1121 → 1157	EGF-like domain	Domain
PF12661	hEGF	1170 → 1191	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	1911 → 2045	Laminin G domain	Domain
PF00008	EGF	2103 → 2138	EGF-like domain	Domain
PF02210	Laminin_G_2	2179 → 2317	Laminin G domain	Domain
PF02210	Laminin_G_2	2455 → 2585	Laminin G domain	Domain
PF00008	EGF	2614 → 2644	EGF-like domain	Domain
PF00008	EGF	2652 → 2687	EGF-like domain	Domain
PF02210	Laminin_G_2	2745 → 2877	Laminin G domain	Domain
PF12661	hEGF	2905 → 2926	Human growth factor-like EGF	Domain
PF02210	Laminin_G_2	3007 → 3141	Laminin G domain	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in retina (at protein level) (PubMed:18836446, PubMed:18976725, PubMed:27737822, PubMed:27846257). Isoform 1: Detected in retina (PubMed:27846257). Isoform 2: Detected in retina (PubMed:27846257). Isoform 3: Strongly expresse

Sequence

MTDKSIVILSLMVFHSSFINGKTCRRQLVEEWHPQPSSYVVNWTLTENICLDFYRDCWFL
GVNTKIDTSGNQAVPQICPLQIQLGDILVISSEPSLQFPEINLMNVSETSFVGCVQNTTT
EDQLLFGCRLKGMHTVNSKWLSVGTHYFITVMASGPSPCPLGLRLNVTVKQQFCQESLSS
EFCSGHGKCLSEAWSKTYSCHCQPPFSGKYCQELDACSFKPCKNNGSCINKRENWDEQAY
ECVCHPPFTGKNCSEIIGQCQPHVCFHGNCSNITSNSFICECDEQFSGPFCEVSAKPCVS
LLFWKRGICPNSSSAYTYECPKGSSSQNGETDVSEFSLVPCQNGTDCIKISNDVMCICSP
IFTDLLCKSIQTSCESFPLRNNATCKKCEKDYPCSCISGFTEKNCEKAIDHCKLLSINCL
NEEWCFNIIGRFKYVCIPGCTKNPCWFLKNVYLIHQHLCYCGVTFHGICQDKGPAQFEYV
WQLGFAGSEGEKCQGVIDAYFFLAANCTEDATYVNDPEDNNSSCWFPHEGTKEICANGCS
CLSEEDSQEYRYLCFLRWAGNMYLENTTDDQENECQHEAVCKDEINRPRCSCSLSYIGRL
CVVNVDYCLGNHSISVHGLCLALSHNCNCSGLQRYERNICEIDTEDCKSASCKNGTTSTH
LRGYFFRKCVPGFKGTQCEIDIDECASHPCKNGATCIDQPGNYFCQCVPPFKVVDGFSCL
CNPGYVGIRCEQDIDDCILNACEHNSTCKDLHLSYQCVCLSDWEGNFCEQESNECKMNPC
KNNSTCTDLYKSYRCECTSGWTGQNCSEEINECDSDPCMNGGLCHESTIPGQFVCLCPPL
YTGQFCHQRYNLCDLLHNPCRNNSTCLALVDANQHCICREEFEGKNCEIDVKDCLFLSCQ
DYGDCEDMVNNFRCICRPGFSGSLCEIEINECSSEPCKNNGTCVDLTNRFFCNCEPEYHG
PFCELDVNKCKISPCLDEENCVYRTDGYNCLCAPGYTGINCEINLDECLSEPCLHDGVCI
DGINHYTCDCKSGFFGTHCETNANDCLSNPCLHGRCTELINEYPCSCDADGTSTQCKIKI
NDCTSIPCMNEGFCQKSAHGFTCICPRGYTGAYCEKSIDNCAEPELNSVICLNGGICVDG
PGHTFDCRCLPGFSGQFCEININECSSSPCLHGADCEDHINGYVCKCQPGWSGHHCENEL
ECIPNSCVHELCMENEPGSTCLCTPGFMTCSIGLLCGDEIRRITCLTPIFQRTDPISTQT
YTIPPSETLVSSFPSIKATRIPAIMDTYPVDQGPKQTGIVKHDILPTTGLATLRISTPLE
SYLLQELIVTRELSAKHSLLSSADVSSSRFLNFGIRDPAQIVQDKTSVSHMPIRTSAATL
GFFFPDRRARTPFIMSSLMSDFIFPTQSLLFENCQTVALSATPTTSVIRSIPGADIELNR
QSLLSRGFLLIAASISATPVVSRGAQEDIEEYSADSLISRREHWRLLSPSMSPIFPAKVI
ISKQVTILNSSALHRFSTKAFNPSEYQAITEASSNQRLTNIKSQAADSLRELSQTCATCS
MTEIKSSREFSDQVLHSKQSHFYETFWMNSAILASWYALMGAQTITSGHSFSSATEITPS
VAFTEVPSLFPSKKSAKRTILSSSLEESITLSSNLDVNLCLDKTCLSIVPSQTISSDLMN
SDLTSKMTTDELSVSENILKLLKIRQYGITMGPTEVLNQESLLDMEKSKGSHTLFKLHPS
DSSLDFELNLQIYPDVTLKTYSEITHANDFKNNLPPLTGSVPDFSEVTTNVAFYTVSATP
ALSIQTSSSMSVIRPDWPYFTDYMTSLKKEVKTSSEWSKWELQPSVQYQEFPTASRHLPF
TRSLTLSSLESILAPQRLMISDFSCVRYYGDSYLEFQNVALNPQNNISLEFQTFSSYGLL
LYVKQDSNLVDGFFIQLFIENGTLKYHFYCPGEAKFKSINTTVRVDNGQKYTLLIRQELD
PCNAELTILGRNTQICESINHVLGKPLPKSGSVFIGGFPDLHGKIQMPVPVKNFTGCIEV
IEINNWRSFIPSKAVKNYHINNCRSQGFMLSPTASFVDASDVTQGVDTMWTSVSPSVAAP
SVCQQDVCHNGGTCHAIFLSSGIVSFQCDCPLHFTGRFCEKDAGLFFPSFNGNSYLELPF
LKFVLEKEHNRTVTIYLTIKTNSLNGTILYSNGNNCGKQFLHLFLVEGRPSVKYGCGNSQ
NILTVSANYSINTNAFTPITIRYTTPVGSPGVVCMIEMTADGKPPVQKKDTEISHASQAY
FESMFLGHIPANVQIHKKAGPVYGFRGCILDLQVNNKEFFIIDEARHGKNIENCHVPWCA
HHLCRNNGTCISDNENLFCECPRLYSGKLCQFASCENNPCGNGATCVPKSGTDIVCLCPY
GRSGPLCTDAINITQPRFSGTDAFGYTSFLAYSRISDISFHYEFHLKFQLANNHSALQNN
LIFFTGQKGHGLNGDDFLAVGLLNGSVVYSYNLGSGIASIRSEPLNLSLGVHTVHLGKFF
QEGWLKVDDHKNKSIIAPGRLVGLNVFSQFYVGGYSEYTPDLLPNGADFKNGFQGCIFTL
QVRTEKDGHFRGLGNPEGHPNAGRSVGQCHASPCSLMKCGNGGTCIESGTSVYCNCTTGW
KGSFCTETVSTCDPEHDPPHHCSRGATCISLPHGYTCFCPLGTTGIYCEQALILIVILEK
PKPAERKVKKEALSISDPSFRSNELSWMSFASFHVRKKTHIQLQFQPLAADGILFYAAQH
LKAQSGDFLCISLVNSSVQLRYNLGDRTIILETLQKVTINGSTWHIIKAGRVGAEGYLDL
DGINVTEKASTKMSSLDTNTDFYIGGVSSLNLVNPMAIENEPVGFQGCIRQVIINNQELQ
LTEFGAKGGSNVGDCDGTACGYNTCRNGGECTVNGTTFSCRCLPDWAGNTCNQSVSCLNN
LCLHQSLCIPDQSFSYSCLCTLGWVGRYCENKTSFSTAKFMGNSYIKYIDPNYRMRNLQF
TTISLNFSTTKTEGLIVWMGIAQNEENDFLAIGLHNQTLKIAVNLGERISVPMSYNNGTF
CCNKWHHVVVIQNQTLIKAYINNSLILSEDIDPHKNFVALNYDGICYLGGFEYGRKVNIV
TQEIFKTNFVGKIKDVVFFQEPKNIELIKLEGYNVYDGDEQNEVT

Sequence length

3165

Interactions

View interactions

Show/Hide Causal Diseases (4)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Macular dystrophy	macular dystrophy	rs1562140604, rs868349465	N/A
retinal dystrophy	Retinal dystrophy	rs527236065, rs1766009155, rs373441420, rs1768346880, rs1766383947, rs181169439, rs143994166, rs749909863, rs770748359, rs1375767063, rs371032798, rs752683070, rs909730457, rs527236066, rs750840208 View all (82 more)	N/A
Retinitis Pigmentosa	retinitis pigmentosa, retinitis pigmentosa 25, Autosomal recessive retinitis pigmentosa	rs771640639, rs1326370032, rs1582139965, rs770748359, rs764163418, rs371032798, rs1562109990, rs752683070, rs1562263385, rs1561965266, rs527236066, rs750840208, rs1582376398, rs199740930, rs776564041 View all (152 more)	N/A
Retinitis Punctata Albescens	retinitis punctata albescens	rs1582930081	N/A

Show/Hide Unknown Diseases (7)

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.
Central Areolar Choroidal Dystrophy	central areolar choroidal dystrophy	N/A	N/A	ClinVar
Diabetes	Type 2 diabetes	N/A	N/A	GWAS
Insomnia	Insomnia	N/A	N/A	GWAS
Melanoma	Melanoma	N/A	N/A	GWAS
Optic Atrophy	optic atrophy	N/A	N/A	ClinVar
Schizophrenia	Schizophrenia	N/A	N/A	GWAS
Stargardt Disease	stargardt disease	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (29)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Astigmatism	Associate	35109811
Blood Coagulation Disorders Inherited	Associate	32218477
Capsule Opacification	Associate	31944634
Carcinoma Renal Cell	Associate	24479813
Cardiotoxicity	Associate	29247589
Cataract	Associate	34689181, 40725401
Color Vision Defects	Associate	31944634
Cone Rod Dystrophies	Associate	20554613, 29550188, 32218477
Diabetes Mellitus Type 2	Associate	36674502
Disease	Associate	34689181, 39970144
Genetic Diseases Inborn	Associate	32218477
Immunoglobulin G4 Related Disease	Associate	34689181
Intervertebral disc disease	Associate	31359629
Leber Congenital Amaurosis	Associate	24265693, 31253780, 32218477, 33879469, 36140798
Leukemia Large Granular Lymphocytic	Associate	35015834
Macular Degeneration	Associate	38417719
Macular Edema	Associate	37648803
Muscular Diseases	Associate	21826682
Myotoxicity	Associate	27539103
Night Blindness	Associate	31944634, 36140798
Refsum Disease Infantile	Associate	30718709, 32728228, 36811936
Retinal Degeneration	Associate	33507217, 36764454
Retinal Diseases	Associate	20375346, 24265693, 25491159, 32218477, 32423767, 33691693, 33946315, 36513702, 36524988
Retinal Dystrophies	Associate	23591405, 27874104, 29068140, 36140798
Retinitis Pigmentosa	Associate	18510646, 20375346, 20696082, 21179430, 21519034, 22363543, 25268133, 25491159, 25753737, 26787102, 26806561, 27375351, 27564720, 27658286, 28763560 View all (36 more)
Retinitis Pigmentosa 25	Associate	39742628
Retinopathy Pericentral Pigmentary Autosomal Recessive	Associate	35816039
Stomach Neoplasms	Associate	36970058
Vision Disorders	Associate	31944634

EYS (eyes shut homolog)