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	54982
Gene name	CLN6 transmembrane ER protein
Gene symbol	CLN6
Synonyms (NCBI Gene)	CLN4ACLN6AHsT18960nclf
Chromosome	15
Chromosome location	15q23
Summary	This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely

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SNP ID	Visualize variation	Clinical significance	Consequence
rs3743088	T>C	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Missense variant, coding sequence variant
rs104894483	C>A,G,T	Benign, benign-likely-benign, pathogenic, likely-benign	Missense variant, coding sequence variant, stop gained
rs104894484	C>T	Pathogenic	Missense variant, coding sequence variant
rs104894486	G>A,C	Pathogenic	Coding sequence variant, synonymous variant, stop gained
rs121908079	ATA>-	Pathogenic	Coding sequence variant, inframe deletion
rs121908080	ATG>-	Likely-pathogenic, pathogenic	Coding sequence variant, inframe deletion
rs140319056	G>A	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, synonymous variant
rs143578698	C>G	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs143781303	T>C	Pathogenic	Missense variant, coding sequence variant
rs145247814	G>A	Benign, conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, synonymous variant
rs149692285	G>A,T	Benign, pathogenic, likely-benign, benign-likely-benign	Intron variant
rs154774633	A>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs154774634	C>T	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs154774635	G>A	Not-provided, uncertain-significance, pathogenic	Missense variant, coding sequence variant
rs154774636	C>G	Not-provided, pathogenic	Missense variant, coding sequence variant
rs154774639	G>-	Not-provided, likely-pathogenic	Frameshift variant, coding sequence variant
rs154774640	G>C	Likely-pathogenic, pathogenic	Stop gained, coding sequence variant
rs201095412	G>A	Uncertain-significance, pathogenic	Coding sequence variant, missense variant
rs371705916	G>A	Conflicting-interpretations-of-pathogenicity	Intron variant
rs374681194	C>A,T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs397515352	->G	Pathogenic	Coding sequence variant, frameshift variant
rs547125345	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs553192210	C>A,G	Likely-pathogenic	Intron variant
rs746753722	C>T	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs750937323	A>G	Uncertain-significance, likely-pathogenic	Coding sequence variant, missense variant
rs751486476	C>T	Pathogenic	Coding sequence variant, missense variant
rs756522171	C>T	Likely-pathogenic	Splice donor variant
rs758921701	G>A	Likely-pathogenic	Missense variant, coding sequence variant
rs762902907	->A	Likely-pathogenic	Stop gained, coding sequence variant
rs763944821	C>T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Missense variant, coding sequence variant
rs768422260	GAG>-	Pathogenic, uncertain-significance	Inframe deletion, coding sequence variant
rs769701646	C>T	Likely-pathogenic, uncertain-significance	Missense variant, coding sequence variant
rs774543080	AG>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205065	C>-	Pathogenic	Frameshift variant, coding sequence variant
rs786205066	C>A	Pathogenic	Intron variant
rs786205067	->CGTT	Pathogenic	Frameshift variant, coding sequence variant
rs794729220	GCGACCCAG>-	Pathogenic	Coding sequence variant, inframe deletion
rs796052351	C>T	Pathogenic	Splice donor variant
rs796052355	A>G	Pathogenic	Splice donor variant
rs796052356	C>T	Pathogenic	Splice donor variant
rs886039727	C>T	Pathogenic	Splice donor variant
rs919850756	G>A	Likely-pathogenic	Coding sequence variant, missense variant
rs1048000119	C>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs1057520571	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1064796787	C>T	Likely-pathogenic	Splice acceptor variant
rs1381427322	C>T	Pathogenic	Missense variant, coding sequence variant
rs1555438212	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438229	->AG	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555438234	TGTCC>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1555438255	A>G	Likely-pathogenic	Missense variant, coding sequence variant
rs1555438411	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438443	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1555438614	C>A	Likely-pathogenic	Splice donor variant
rs1555440188	A>C	Likely-pathogenic	Splice donor variant
rs1555440206	T>C	Likely-pathogenic	Missense variant, initiator codon variant
rs1567095153	->G	Pathogenic	Coding sequence variant, frameshift variant
rs1567096598	A>T	Pathogenic	Coding sequence variant, missense variant
rs1595816465	C>-	Pathogenic	Coding sequence variant, frameshift variant
rs1595816474	GACC>-	Likely-pathogenic	Coding sequence variant, frameshift variant

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miRTarBase ID	miRNA	Experiments	Reference
MIRT024862	hsa-miR-215-5p	Microarray	19074876
MIRT026355	hsa-miR-192-5p	Microarray	19074876
MIRT044786	hsa-miR-320a	CLASH	23622248
MIRT043180	hsa-miR-324-5p	CLASH	23622248
MIRT040288	hsa-miR-615-3p	CLASH	23622248
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT612141	hsa-miR-8485	HITS-CLIP	23824327
MIRT612140	hsa-miR-300	HITS-CLIP	23824327
MIRT612139	hsa-miR-381-3p	HITS-CLIP	23824327
MIRT612138	hsa-miR-5092	HITS-CLIP	23824327
MIRT897058	hsa-miR-103b	CLIP-seq
MIRT897059	hsa-miR-1200	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT897062	hsa-miR-125a-5p	CLIP-seq
MIRT897063	hsa-miR-125b	CLIP-seq
MIRT897064	hsa-miR-1273f	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897066	hsa-miR-1298	CLIP-seq
MIRT897067	hsa-miR-1302	CLIP-seq
MIRT897068	hsa-miR-130a	CLIP-seq
MIRT897069	hsa-miR-130b	CLIP-seq
MIRT897070	hsa-miR-1322	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT897072	hsa-miR-140-3p	CLIP-seq
MIRT897073	hsa-miR-143	CLIP-seq
MIRT897074	hsa-miR-1471	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT897076	hsa-miR-192	CLIP-seq
MIRT897077	hsa-miR-19a	CLIP-seq
MIRT897078	hsa-miR-19b	CLIP-seq
MIRT897079	hsa-miR-215	CLIP-seq
MIRT897080	hsa-miR-301a	CLIP-seq
MIRT897081	hsa-miR-301b	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT897083	hsa-miR-3122	CLIP-seq
MIRT897084	hsa-miR-3137	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT897087	hsa-miR-326	CLIP-seq
MIRT897088	hsa-miR-329	CLIP-seq
MIRT897089	hsa-miR-330-5p	CLIP-seq
MIRT897090	hsa-miR-345	CLIP-seq
MIRT897091	hsa-miR-361-3p	CLIP-seq
MIRT897092	hsa-miR-3615	CLIP-seq
MIRT897093	hsa-miR-362-3p	CLIP-seq
MIRT897094	hsa-miR-3649	CLIP-seq
MIRT897095	hsa-miR-3651	CLIP-seq
MIRT897096	hsa-miR-3652	CLIP-seq
MIRT897097	hsa-miR-3664-5p	CLIP-seq
MIRT897098	hsa-miR-3666	CLIP-seq
MIRT897099	hsa-miR-3682-5p	CLIP-seq
MIRT897100	hsa-miR-380	CLIP-seq
MIRT897101	hsa-miR-381	CLIP-seq
MIRT897102	hsa-miR-3913-5p	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT897104	hsa-miR-3941	CLIP-seq
MIRT897105	hsa-miR-3943	CLIP-seq
MIRT897106	hsa-miR-409-5p	CLIP-seq
MIRT897107	hsa-miR-411	CLIP-seq
MIRT897108	hsa-miR-421	CLIP-seq
MIRT897109	hsa-miR-4286	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897111	hsa-miR-4295	CLIP-seq
MIRT897112	hsa-miR-4298	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897114	hsa-miR-4319	CLIP-seq
MIRT897115	hsa-miR-4323	CLIP-seq
MIRT897116	hsa-miR-4324	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT897118	hsa-miR-4428	CLIP-seq
MIRT897119	hsa-miR-4430	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897122	hsa-miR-4495	CLIP-seq
MIRT897123	hsa-miR-4505	CLIP-seq
MIRT897124	hsa-miR-4514	CLIP-seq
MIRT897125	hsa-miR-4522	CLIP-seq
MIRT897126	hsa-miR-454	CLIP-seq
MIRT897127	hsa-miR-4635	CLIP-seq
MIRT897128	hsa-miR-4645-5p	CLIP-seq
MIRT897129	hsa-miR-4656	CLIP-seq
MIRT897130	hsa-miR-466	CLIP-seq
MIRT897131	hsa-miR-4666-3p	CLIP-seq
MIRT897132	hsa-miR-4671-3p	CLIP-seq
MIRT897133	hsa-miR-4672	CLIP-seq
MIRT897134	hsa-miR-4673	CLIP-seq
MIRT897135	hsa-miR-4691-3p	CLIP-seq
MIRT897136	hsa-miR-4692	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT897138	hsa-miR-4699-3p	CLIP-seq
MIRT897139	hsa-miR-4708-5p	CLIP-seq
MIRT897140	hsa-miR-4709-5p	CLIP-seq
MIRT897141	hsa-miR-4731-5p	CLIP-seq
MIRT897142	hsa-miR-4732-3p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT897144	hsa-miR-4770	CLIP-seq
MIRT897145	hsa-miR-4789-3p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT897147	hsa-miR-526b	CLIP-seq
MIRT897148	hsa-miR-539	CLIP-seq
MIRT897149	hsa-miR-544b	CLIP-seq
MIRT897150	hsa-miR-593	CLIP-seq
MIRT897151	hsa-miR-603	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897155	hsa-miR-640	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT897157	hsa-miR-670	CLIP-seq
MIRT897158	hsa-miR-940	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT1965997	hsa-miR-1225-5p	CLIP-seq
MIRT1965998	hsa-miR-1237	CLIP-seq
MIRT897062	hsa-miR-125a-5p	CLIP-seq
MIRT897063	hsa-miR-125b	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT1965999	hsa-miR-1299	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT1966000	hsa-miR-1909	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT1966001	hsa-miR-204	CLIP-seq
MIRT1966002	hsa-miR-211	CLIP-seq
MIRT1966003	hsa-miR-296-5p	CLIP-seq
MIRT1966004	hsa-miR-3065-3p	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT1966005	hsa-miR-3125	CLIP-seq
MIRT1966006	hsa-miR-3132	CLIP-seq
MIRT897084	hsa-miR-3137	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT1966007	hsa-miR-3182	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT897087	hsa-miR-326	CLIP-seq
MIRT897089	hsa-miR-330-5p	CLIP-seq
MIRT897090	hsa-miR-345	CLIP-seq
MIRT1966008	hsa-miR-34a	CLIP-seq
MIRT1966009	hsa-miR-34c-5p	CLIP-seq
MIRT1966010	hsa-miR-3616-3p	CLIP-seq
MIRT897097	hsa-miR-3664-5p	CLIP-seq
MIRT1966011	hsa-miR-378g	CLIP-seq
MIRT897100	hsa-miR-380	CLIP-seq
MIRT1966012	hsa-miR-3916	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT1966013	hsa-miR-4277	CLIP-seq
MIRT897109	hsa-miR-4286	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT1966014	hsa-miR-4300	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897114	hsa-miR-4319	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT1966015	hsa-miR-4436b-3p	CLIP-seq
MIRT1966016	hsa-miR-4451	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT1966017	hsa-miR-4481	CLIP-seq
MIRT1966018	hsa-miR-4484	CLIP-seq
MIRT1966019	hsa-miR-4486	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897122	hsa-miR-4495	CLIP-seq
MIRT1966020	hsa-miR-449a	CLIP-seq
MIRT1966021	hsa-miR-449b	CLIP-seq
MIRT897125	hsa-miR-4522	CLIP-seq
MIRT1966022	hsa-miR-4640-5p	CLIP-seq
MIRT1966023	hsa-miR-4659a-3p	CLIP-seq
MIRT1966024	hsa-miR-4659b-3p	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT1966025	hsa-miR-4700-3p	CLIP-seq
MIRT1966026	hsa-miR-4716-3p	CLIP-seq
MIRT1966027	hsa-miR-4726-5p	CLIP-seq
MIRT897142	hsa-miR-4732-3p	CLIP-seq
MIRT1966028	hsa-miR-4745-5p	CLIP-seq
MIRT1966029	hsa-miR-4755-5p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT1966030	hsa-miR-4782-5p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT1966031	hsa-miR-542-3p	CLIP-seq
MIRT1966032	hsa-miR-548an	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT1966033	hsa-miR-623	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT1966034	hsa-miR-661	CLIP-seq
MIRT897157	hsa-miR-670	CLIP-seq
MIRT1966035	hsa-miR-877	CLIP-seq
MIRT1966036	hsa-miR-920	CLIP-seq
MIRT2201884	hsa-miR-1178	CLIP-seq
MIRT897060	hsa-miR-1207-5p	CLIP-seq
MIRT897061	hsa-miR-122	CLIP-seq
MIRT2201885	hsa-miR-127-3p	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897070	hsa-miR-1322	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT2201886	hsa-miR-1538	CLIP-seq
MIRT1966000	hsa-miR-1909	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT2201887	hsa-miR-2861	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT2201888	hsa-miR-3136-3p	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT1966007	hsa-miR-3182	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT1966010	hsa-miR-3616-3p	CLIP-seq
MIRT2201889	hsa-miR-3662	CLIP-seq
MIRT897101	hsa-miR-381	CLIP-seq
MIRT897103	hsa-miR-3929	CLIP-seq
MIRT897108	hsa-miR-421	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT897117	hsa-miR-4419b	CLIP-seq
MIRT897118	hsa-miR-4428	CLIP-seq
MIRT1966015	hsa-miR-4436b-3p	CLIP-seq
MIRT897120	hsa-miR-4478	CLIP-seq
MIRT897121	hsa-miR-4488	CLIP-seq
MIRT897131	hsa-miR-4666-3p	CLIP-seq
MIRT897135	hsa-miR-4691-3p	CLIP-seq
MIRT897137	hsa-miR-4697-5p	CLIP-seq
MIRT897140	hsa-miR-4709-5p	CLIP-seq
MIRT2201890	hsa-miR-4745-3p	CLIP-seq
MIRT897143	hsa-miR-4763-3p	CLIP-seq
MIRT2201891	hsa-miR-4777-3p	CLIP-seq
MIRT2201892	hsa-miR-4779	CLIP-seq
MIRT897145	hsa-miR-4789-3p	CLIP-seq
MIRT897146	hsa-miR-516b	CLIP-seq
MIRT897148	hsa-miR-539	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897154	hsa-miR-637	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT1966034	hsa-miR-661	CLIP-seq
MIRT2201893	hsa-miR-875-5p	CLIP-seq
MIRT2386205	hsa-miR-541	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq
MIRT2386206	hsa-miR-654-5p	CLIP-seq
MIRT2447201	hsa-miR-3936	CLIP-seq
MIRT2447202	hsa-miR-4714-3p	CLIP-seq
MIRT2447203	hsa-miR-545	CLIP-seq
MIRT2447201	hsa-miR-3936	CLIP-seq
MIRT2447202	hsa-miR-4714-3p	CLIP-seq
MIRT2447203	hsa-miR-545	CLIP-seq
MIRT897065	hsa-miR-1285	CLIP-seq
MIRT897071	hsa-miR-134	CLIP-seq
MIRT2504965	hsa-miR-1913	CLIP-seq
MIRT897075	hsa-miR-1914	CLIP-seq
MIRT897082	hsa-miR-3118	CLIP-seq
MIRT897085	hsa-miR-3164	CLIP-seq
MIRT2504966	hsa-miR-3176	CLIP-seq
MIRT897086	hsa-miR-3187-5p	CLIP-seq
MIRT2504967	hsa-miR-324-3p	CLIP-seq
MIRT897088	hsa-miR-329	CLIP-seq
MIRT897093	hsa-miR-362-3p	CLIP-seq
MIRT2504968	hsa-miR-3922-3p	CLIP-seq
MIRT897110	hsa-miR-4292	CLIP-seq
MIRT897113	hsa-miR-4308	CLIP-seq
MIRT2504969	hsa-miR-4667-3p	CLIP-seq
MIRT2504970	hsa-miR-4733-3p	CLIP-seq
MIRT2504971	hsa-miR-4757-5p	CLIP-seq
MIRT897152	hsa-miR-612	CLIP-seq
MIRT897153	hsa-miR-617	CLIP-seq
MIRT897156	hsa-miR-642b	CLIP-seq

Show/Hide all (27)

GO ID	Ontology	Definition	Evidence	Reference
GO:0001573	Process	Ganglioside metabolic process	IMP	16857350
GO:0005515	Function	Protein binding	IPI	17237713, 19235893, 19941651, 30177828, 32296183, 32814053
GO:0005730	Component	Nucleolus	IDA
GO:0005769	Component	Early endosome	IDA	17237713
GO:0005783	Component	Endoplasmic reticulum	IBA
GO:0005783	Component	Endoplasmic reticulum	IDA	15265688, 19941651
GO:0005783	Component	Endoplasmic reticulum	IEA
GO:0005788	Component	Endoplasmic reticulum lumen	IDA	15010453
GO:0005789	Component	Endoplasmic reticulum membrane	IEA
GO:0007040	Process	Lysosome organization	IBA
GO:0007040	Process	Lysosome organization	IEA
GO:0007042	Process	Lysosomal lumen acidification	IMP	11722572
GO:0007601	Process	Visual perception	IEA
GO:0008203	Process	Cholesterol metabolic process	IMP	16857350
GO:0009057	Process	Macromolecule catabolic process	IEA
GO:0016020	Component	Membrane	HDA	19946888
GO:0016020	Component	Membrane	IBA
GO:0016020	Component	Membrane	IEA
GO:0016020	Component	Membrane	NAS	11727201
GO:0030163	Process	Protein catabolic process	NAS	10740217
GO:0030203	Process	Glycosaminoglycan metabolic process	IMP	16857350
GO:0031987	Process	Locomotion involved in locomotory behavior	IEA
GO:0035727	Function	Lysophosphatidic acid binding	IDA	18317235
GO:0042803	Function	Protein homodimerization activity	IDA	15010453
GO:0045121	Component	Membrane raft	IDA	17237713
GO:0045862	Process	Positive regulation of proteolysis	IMP	15010453
GO:0120146	Function	Sulfatide binding	IDA	18317235

MIM	HGNC	e!Ensembl
606725	2077	ENSG00000128973

Q9NWW5

Protein name

Ceroid-lipofuscinosis neuronal protein 6 (Protein CLN6)

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF15156	CLN6	30 → 309	Ceroid-lipofuscinosis neuronal protein 6	Family

Sequence

MEATRRRQHLGATGGPGAQLGASFLQARHGSVSADEAARTAPFHLDLWFYFTLQNWVLDF
GRPIAMLVFPLEWFPLNKPSVGDYFHMAYNVITPFLLLKLIERSPRTLPRSITYVSIIIF
IMGASIHLVGDSVNHRLLFSGYQHHLSVRENPIIKNLKPETLIDSFELLYYYDEYLGHCM
WYIPFFLILFMYFSGCFTASKAESLIPGPALLLVAPSGLYYWYLVTEGQIFILFIFTFFA
MLALVLHQKRKRLFLDSNGLFLFSSFALTLLLVALWVAWLWNDPVLRKKYPGVIYVPEPW
AFYTLHVSSRH

Sequence length

311

Interactions

View interactions

Evidence Score: ★☆☆☆☆ Gene-disease association found in Text Mining only ★★☆☆☆ Found in Text Mining and Unknown/Other Associations ★★★☆☆ Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆ ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★ ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)

Show/Hide Causal Diseases (10)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Abnormality of the nervous system	Pathogenic; Likely pathogenic	rs2141139300, rs2141141525, rs2141156157	RCV001814358 RCV001814411 RCV001814357	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult neuronal ceroid lipofuscinosis	Likely pathogenic	rs2093204342, rs2093205953, rs2093214695	RCV001264033 RCV001264034 RCV001264035	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ceroid lipofuscinosis, neuronal, 6A	Likely pathogenic; Pathogenic	rs2093262869, rs796052356, rs2141138753, rs760271120, rs2141136108, rs2141139300, rs2141135900, rs2141141533, rs758921701, rs1401381423, rs2505409451, rs2505409424, rs2505409701, rs1275614219, rs104894483 View all (32 more)	RCV005005165 RCV005005179 RCV001374417 RCV005005235 RCV005005918 View all (43 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Ceroid lipofuscinosis, neuronal, 6B (Kufs type)	Likely pathogenic; Pathogenic	rs2093262869, rs796052356, rs760271120, rs2141136108, rs2141139300, rs752212030, rs1401381423, rs2505409451, rs2505409424, rs2505409701, rs104894483, rs397515352, rs774543080, rs121908080, rs2505401392 View all (9 more)	RCV005005165 RCV005005179 RCV005005235 RCV005005918 RCV005005952 View all (19 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CLN6-related disorder	Likely pathogenic	rs756522171	RCV004754526	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystic fibrosis	Pathogenic	rs758921701	RCV004568496	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Gastric cancer	Likely pathogenic	rs756522171	RCV005901491	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental disorder	Likely pathogenic	rs2141135967, rs2141136011	RCV001374905 RCV001374904	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neuronal ceroid lipofuscinosis	Likely pathogenic; Pathogenic	rs2093262869, rs2141137336, rs756522171, rs760271120, rs2141136108, rs2093199030, rs2141145023, rs2141145116, rs2141139300, rs2141141420, rs766493088, rs1595818391, rs1401381423, rs2141137200, rs2141145071 View all (47 more)	RCV001316419 RCV001377170 RCV001377046 RCV001385144 RCV001385145 View all (58 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Spastic ataxia	Likely pathogenic	rs796052356	RCV001647223	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (21)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Abnormal brain morphology	Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Agenesis of the corpus callosum with peripheral neuropathy	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATROPHY	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6B	—	ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO ClinVar, Disgenet, GenCC, HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CONGENITAL NEUROLOGIC ANOMALIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Germ cell tumor of testis	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JUVENILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LATE-INFANTILE NEURONAL CEROID LIPOFUSCINOSIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MOTOR SKILLS DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID CIPOFUSCINOSIS TYPE 6	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURONAL CEROID-LIPOFUSCINOSES	—	CTD, Disgenet CTD, Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinosis, Recessive	Conflicting classifications of pathogenicity; Benign; Likely benign; Uncertain significance	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thyroid cancer, nonmedullary, 1	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
VISION DISORDERS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (65)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Action Myoclonus-Renal Failure Syndrome	Action Myoclonus-Renal Failure Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	21549341, 23297359, 30561534		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	UNIPROT_DG	21549341		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	ORPHANET_DG	21990111		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Adult Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	GENOMICS_ENGLAND_DG	27604308, 30561534		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Ataxia	Ataxia	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Atypical Inclusion-Body Disease	Inclusion-Body Disease	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Basal Ganglia Diseases	Basal ganglia disease	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Bipolar Disorder	Bipolar disorder	Pubtator	35881528	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Diseases	Cerebellar diseases	Pubtator	38003592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	38003592	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebral atrophy	Cerebral Atrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid lipofuscinosis neuronal 5	Neuronal ceroid lipofuscinosis	Pubtator	16857350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis Neuronal 6	Neuronal ceroid lipofuscinosis	Pubtator	34380921	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 5	Neuronal ceroid lipofuscinosis	BEFREE	12673792		★★★★★ ★☆☆☆☆ Found in Text Mining only
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	CLINVAR_DG	11727201, 12673792, 12815591, 15265688, 17453415, 19135028, 20020536, 21359198, 21549341, 21990111, 23180398, 23735787, 26075876		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	UNIPROT_DG	11727201, 11791207, 12673792, 12815591, 19201763, 21990111		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	BEFREE	12673792, 30665444		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	ORPHANET_DG	21990111		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	CTD_human_DG	23516525		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 6	Neuronal ceroid lipofuscinosis	GENOMICS_ENGLAND_DG	27604308, 30561534		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEROID LIPOFUSCINOSIS, NEURONAL, 8	Neuronal ceroid lipofuscinosis	BEFREE	30250865		★★★★★ ★☆☆☆☆ Found in Text Mining only
Ceroid Lipofuscinosis, Neuronal, Parry Type	Neuronal ceroid lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
CLN4A disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
CLN6 disease	Neuronal Ceroid Lipofuscinosis	Orphanet			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	BEFREE	23297359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dementia	Dementia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dentatorubral-Pallidoluysian Atrophy	Dentatorubral Pallidoluysian Atrophy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Depressive disorder	Mental Depression	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental Coordination Disorder	Developmental dyspraxia	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Developmental regression	Developmental regression	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Disorder of eye	Disorder Of Eye	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsies Myoclonic	Myoclonic epilepsy	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	30285654	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial Progressive Myoclonic Epilepsy	Myoclonic Epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Hemeralopia	Hemeralopia	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	BEFREE	11791207		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	19235893		★★★★★ ★☆☆☆☆ Found in Text Mining only
Infantile neuronal ceroid lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	21359198, 26329332, 28065762, 29606505, 30528883, 30665444, 31331814, 31807779		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Juvenile Neuronal Ceroid Lipofuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	BEFREE	10191123, 10428067, 11589002, 12673792, 12815591, 19520283, 23180398, 30285654, 30528883		★★★★★ ★☆☆☆☆ Found in Text Mining only
Late-Infantile Neuronal Ceroid Lipfuscinosis	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Learning Disabilities	Learning disorders	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	BEFREE	30285654		★★★★★ ★☆☆☆☆ Found in Text Mining only
Leukoencephalopathy	Leukoencephalopathy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Malformations of Cortical Development	Cortical development malformation	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
May-White Syndrome	May-White Syndrome	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Motor Skills Disorders	Motor Skills Disorders	CTD_human_DG	23789114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	BEFREE	22883287, 23297359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Myoclonic Epilepsies, Progressive	Myoclonic epilepsy	CTD_human_DG	25401298		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Diseases	Neurodegenerative disorder	Pubtator	16857350	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Neurodegenerative Disorders	Neurodegenerative Disorders	BEFREE	11791207, 16857350, 19235893, 24581221		★★★★★ ★☆☆☆☆ Found in Text Mining only
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	BEFREE	10191126, 10428067, 11791207, 12796825, 12946273, 18811591, 19235893, 22883287, 24581221, 26115733, 28587997, 30285654, 30561534, 30760880, 9733028		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	LHGDN	11727201, 12815591, 15996215, 19135028		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CTD_human_DG	23789114		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neuronal Ceroid-Lipofuscinoses	Neuronal Ceroid Lipofuscinosis	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Presenile dementia	Senile Dementia	BEFREE	23297359		★★★★★ ★☆☆☆☆ Found in Text Mining only
Seizures	Seizures	Pubtator	26115733	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Unverricht-Lundborg Syndrome	Myoclonic Epilepsy	BEFREE	27165443		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disability	Vision Disability	CTD_human_DG	23789114		★★★★★ ★☆☆☆☆ Found in Text Mining only
Vision Disorders	Visual disorder	Pubtator	26115733	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

CLN6 (CLN6 transmembrane ER protein)