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	55280
Gene name	CWF19 like cell cycle control factor 1
Gene symbol	CWF19L1
Synonyms (NCBI Gene)	C19L1SCAR17hDrn1
Chromosome	10
Chromosome location	10q24.31
Summary	This gene encodes a member of the CWF19 protein family. Mutations in this gene have been associated with autosomal recessive spinocerebellar ataxia-17 and mild cognitive disability. Alternative splicing results in multiple transcript variants. [provided b

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SNP ID	Visualize variation	Clinical significance	Consequence
rs150239404	G>A	Pathogenic	Coding sequence variant, stop gained, 5 prime UTR variant
rs587780326	C>T	Pathogenic	Splice donor variant
rs749679347	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs761174120	C>A,T	Likely-pathogenic	Coding sequence variant, 5 prime UTR variant, missense variant
rs879255653	T>A,G	Pathogenic	Stop gained, coding sequence variant, missense variant
rs879255654	G>-	Pathogenic	Coding sequence variant, intron variant, frameshift variant
rs1057520757	T>C	Pathogenic	Splice acceptor variant
rs1389916079	AA>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554904186	T>-	Pathogenic	Frameshift variant, coding sequence variant
rs1589625941	->T	Likely-pathogenic	5 prime UTR variant, coding sequence variant, stop gained

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Show/Hide all (359)

miRTarBase ID	miRNA	Experiments	Reference
MIRT044327	hsa-miR-106b-5p	CLASH	23622248
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT663457	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT633616	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT633614	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626078	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT626077	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT626076	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626074	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT619593	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT619592	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT663457	hsa-miR-4716-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT633616	hsa-miR-6747-3p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT633615	hsa-miR-640	HITS-CLIP	23824327
MIRT633614	hsa-miR-1228-3p	HITS-CLIP	23824327
MIRT626084	hsa-miR-483-3p	HITS-CLIP	23824327
MIRT626083	hsa-miR-4781-3p	HITS-CLIP	23824327
MIRT626082	hsa-miR-1306-5p	HITS-CLIP	23824327
MIRT626081	hsa-miR-125a-3p	HITS-CLIP	23824327
MIRT626080	hsa-miR-764	HITS-CLIP	23824327
MIRT626079	hsa-miR-3934-5p	HITS-CLIP	23824327
MIRT626078	hsa-miR-371b-5p	HITS-CLIP	23824327
MIRT626077	hsa-miR-373-5p	HITS-CLIP	23824327
MIRT626076	hsa-miR-616-5p	HITS-CLIP	23824327
MIRT626075	hsa-miR-371a-5p	HITS-CLIP	23824327
MIRT626074	hsa-miR-372-5p	HITS-CLIP	23824327
MIRT626073	hsa-miR-3663-5p	HITS-CLIP	23824327
MIRT626072	hsa-miR-4755-3p	HITS-CLIP	23824327
MIRT626071	hsa-miR-6131	HITS-CLIP	23824327
MIRT626070	hsa-miR-548s	HITS-CLIP	23824327
MIRT626069	hsa-miR-4701-5p	HITS-CLIP	23824327
MIRT626068	hsa-miR-588	HITS-CLIP	23824327
MIRT626067	hsa-miR-4435	HITS-CLIP	23824327
MIRT626066	hsa-miR-3187-3p	HITS-CLIP	23824327
MIRT626065	hsa-miR-6843-3p	HITS-CLIP	23824327
MIRT626064	hsa-miR-6848-3p	HITS-CLIP	23824327
MIRT619593	hsa-miR-3613-3p	HITS-CLIP	23824327
MIRT619592	hsa-miR-4668-5p	HITS-CLIP	23824327
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT917440	hsa-miR-1255a	CLIP-seq
MIRT917441	hsa-miR-1255b	CLIP-seq
MIRT917442	hsa-miR-1262	CLIP-seq
MIRT917443	hsa-miR-1287	CLIP-seq
MIRT917444	hsa-miR-1288	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917447	hsa-miR-188-5p	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917450	hsa-miR-2467-3p	CLIP-seq
MIRT917451	hsa-miR-28-5p	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917454	hsa-miR-3135	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917456	hsa-miR-3139	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917459	hsa-miR-3199	CLIP-seq
MIRT917460	hsa-miR-3622b-5p	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT917463	hsa-miR-370	CLIP-seq
MIRT917464	hsa-miR-3714	CLIP-seq
MIRT917465	hsa-miR-409-3p	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917470	hsa-miR-432	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT917473	hsa-miR-4487	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT917475	hsa-miR-4633-3p	CLIP-seq
MIRT917476	hsa-miR-4633-5p	CLIP-seq
MIRT917477	hsa-miR-4661-3p	CLIP-seq
MIRT917478	hsa-miR-4701-3p	CLIP-seq
MIRT917479	hsa-miR-4718	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917482	hsa-miR-4731-3p	CLIP-seq
MIRT917483	hsa-miR-4780	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917485	hsa-miR-4789-5p	CLIP-seq
MIRT917486	hsa-miR-4801	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917488	hsa-miR-542-3p	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917490	hsa-miR-623	CLIP-seq
MIRT917491	hsa-miR-708	CLIP-seq
MIRT917492	hsa-miR-890	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT1972045	hsa-miR-3143	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT1972046	hsa-miR-4438	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT1972047	hsa-miR-4803	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972048	hsa-miR-5095	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT2447834	hsa-miR-2467-5p	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2447835	hsa-miR-3188	CLIP-seq
MIRT2447836	hsa-miR-3929	CLIP-seq
MIRT2447837	hsa-miR-3975	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT2447838	hsa-miR-4419b	CLIP-seq
MIRT2447839	hsa-miR-4478	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT2447840	hsa-miR-485-5p	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT2511014	hsa-miR-24	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2511015	hsa-miR-3163	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT2511016	hsa-miR-3674	CLIP-seq
MIRT2511017	hsa-miR-371-5p	CLIP-seq
MIRT2511018	hsa-miR-3934	CLIP-seq
MIRT2511019	hsa-miR-3973	CLIP-seq
MIRT917466	hsa-miR-4252	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT917468	hsa-miR-4281	CLIP-seq
MIRT2511020	hsa-miR-4284	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT2511021	hsa-miR-4421	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT1972046	hsa-miR-4438	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT2511022	hsa-miR-4667-3p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT2511023	hsa-miR-4735-5p	CLIP-seq
MIRT2511024	hsa-miR-4772-3p	CLIP-seq
MIRT2511025	hsa-miR-4775	CLIP-seq
MIRT917484	hsa-miR-4787-3p	CLIP-seq
MIRT2511026	hsa-miR-483-5p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972048	hsa-miR-5095	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT2511027	hsa-miR-548c-3p	CLIP-seq
MIRT2511028	hsa-miR-548k	CLIP-seq
MIRT2511029	hsa-miR-548u	CLIP-seq
MIRT2511030	hsa-miR-590-3p	CLIP-seq
MIRT2511031	hsa-miR-593	CLIP-seq
MIRT917438	hsa-miR-1200	CLIP-seq
MIRT917439	hsa-miR-122	CLIP-seq
MIRT2678829	hsa-miR-1273f	CLIP-seq
MIRT1972043	hsa-miR-1278	CLIP-seq
MIRT917445	hsa-miR-130a	CLIP-seq
MIRT917446	hsa-miR-130b	CLIP-seq
MIRT2678830	hsa-miR-143	CLIP-seq
MIRT917448	hsa-miR-1915	CLIP-seq
MIRT1972044	hsa-miR-197	CLIP-seq
MIRT917449	hsa-miR-1976	CLIP-seq
MIRT2511014	hsa-miR-24	CLIP-seq
MIRT917452	hsa-miR-301a	CLIP-seq
MIRT917453	hsa-miR-301b	CLIP-seq
MIRT917455	hsa-miR-3135b	CLIP-seq
MIRT917457	hsa-miR-3155	CLIP-seq
MIRT917458	hsa-miR-3155b	CLIP-seq
MIRT2511015	hsa-miR-3163	CLIP-seq
MIRT917461	hsa-miR-3652	CLIP-seq
MIRT917462	hsa-miR-3666	CLIP-seq
MIRT2511016	hsa-miR-3674	CLIP-seq
MIRT2511017	hsa-miR-371-5p	CLIP-seq
MIRT2511018	hsa-miR-3934	CLIP-seq
MIRT2511019	hsa-miR-3973	CLIP-seq
MIRT917467	hsa-miR-4279	CLIP-seq
MIRT2511020	hsa-miR-4284	CLIP-seq
MIRT917469	hsa-miR-4295	CLIP-seq
MIRT917471	hsa-miR-4324	CLIP-seq
MIRT2511021	hsa-miR-4421	CLIP-seq
MIRT917472	hsa-miR-4430	CLIP-seq
MIRT2678831	hsa-miR-4534	CLIP-seq
MIRT917474	hsa-miR-454	CLIP-seq
MIRT2207764	hsa-miR-4638-5p	CLIP-seq
MIRT2678832	hsa-miR-4653-3p	CLIP-seq
MIRT2511022	hsa-miR-4667-3p	CLIP-seq
MIRT2678833	hsa-miR-4708-5p	CLIP-seq
MIRT917480	hsa-miR-4722-3p	CLIP-seq
MIRT917481	hsa-miR-4726-3p	CLIP-seq
MIRT2511023	hsa-miR-4735-5p	CLIP-seq
MIRT2678834	hsa-miR-4770	CLIP-seq
MIRT2511024	hsa-miR-4772-3p	CLIP-seq
MIRT2511025	hsa-miR-4775	CLIP-seq
MIRT2511026	hsa-miR-483-5p	CLIP-seq
MIRT917487	hsa-miR-484	CLIP-seq
MIRT1972049	hsa-miR-5096	CLIP-seq
MIRT917489	hsa-miR-544b	CLIP-seq
MIRT2511027	hsa-miR-548c-3p	CLIP-seq
MIRT2511028	hsa-miR-548k	CLIP-seq
MIRT2511029	hsa-miR-548u	CLIP-seq
MIRT2511030	hsa-miR-590-3p	CLIP-seq
MIRT2511031	hsa-miR-593	CLIP-seq

Show/Hide all (4)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000398	Process	MRNA splicing, via spliceosome	IBA
GO:0005515	Function	Protein binding	IPI	32296183
GO:0061632	Function	RNA lariat debranching enzyme activator activity	IBA
GO:0071014	Component	Post-mRNA release spliceosomal complex	IBA

MIM	HGNC	e!Ensembl
616120	25613	ENSG00000095485

Q69YN2

Protein name

CWF19-like protein 1 (C19L1)

PDB

8RO2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF04677	CwfJ_C_1	316 → 435	Protein similar to CwfJ C-terminus 1	Family
PF04676	CwfJ_C_2	440 → 535	Protein similar to CwfJ C-terminus 2	Family

Tissue specificity

TISSUE SPECIFICITY: Expressed in many brain regions, including cerebellum, thalamus and occipital, parietal and temporal lobes (at protein level). Also expressed in the spinal cord (at protein level). {ECO:0000269|PubMed:25361784}.

Sequence

MAQKPLRLLACGDVEGKFDILFNRVQAIQKKSGNFDLLLCVGNFFGSTQDAEWEEYKTGI
KKAPIQTYVLGANNQETVKYFQDADGCELAENITYLGRKGIFTGSSGLQIVYLSGTESLN
EPVPGYSFSPKDVSSLRMMLCTTSQFKGVDILLTSPWPKCVGNFGNSSGEVDTKKCGSAL
VSSLATGLKPRYHFAALEKTYYERLPYRNHIILQENAQHATRFIALANVGNPEKKKYLYA
FSIVPMKLMDAAELVKQPPDVTENPYRKSGQEASIGKQILAPVEESACQFFFDLNEKQGR
KRSSTGRDSKSSPHPKQPRKPPQPPGPCWFCLASPEVEKHLVVNIGTHCYLALAKGGLSD
DHVLILPIGHYQSVVELSAEVVEEVEKYKATLRRFFKSRGKWCVVFERNYKSHHLQLQVI
PVPISCSTTDDIKDAFITQAQEQQIELLEIPEHSDIKQIAQPGAAYFYVELDTGEKLFHR
IKKNFPLQFGREVLASEAILNVPDKSDWRQCQISKEDEETLARRFRKDFEPYDFTLDD

Sequence length

538

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 (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Autosomal recessive spinocerebellar ataxia 17	Pathogenic; Likely pathogenic	rs2134307362, rs587780326, rs1330992740, rs1846514750, rs772446354, rs1424478086, rs1236392229, rs2493141408, rs879255653, rs879255654, rs1554902760, rs1589625941, rs749679347, rs1589611043, rs1846512047, rs201230582 View all (1 more)	RCV001780599 RCV000149405 RCV002249020 RCV003222415 RCV002292700 View all (11 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
CWF19L1-related disorder	Likely pathogenic	rs1346497238	RCV003414257	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual disability	Likely pathogenic	rs1846799593	RCV001291089	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Show/Hide Unknown Diseases (20)

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.
Acute myeloid leukemia	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATAXIA, SPINOCEREBELLAR	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA	—	ClinGen, Disgenet, GWAS catalog ClinGen, Disgenet, GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19 LIKE CELL CYCLE CONTROL FACTOR 1 DEFICIENCY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO CWF19L1 DEFICIENCY	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Uncertain significance; Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NON-ALCOHOLIC FATTY LIVER DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PSORIASIS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	—	HPO	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIAS	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
UPPER AERODIGESTIVE TRACT NEOPLASM	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uveal melanoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (35)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia	Ataxia	Pubtator	25361784, 36357319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Ataxia, Spinocerebellar	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrophy	Atrophy	Pubtator	36357319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	Cerebellar Ataxia	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cerebellar Ataxia	Cerebellar ataxia	Pubtator	26197978, 36357319	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Ataxia, Early Onset	Cerebellar Ataxia	BEFREE	27016154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar atrophy	Cerebellar atrophy	BEFREE	27016154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Diabetes Mellitus Type 2	Diabetes mellitus, type 2	Pubtator	37540242	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Dysarthria	Dysarthria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Fatty Liver	Fatty Liver	BEFREE	23477746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	BEFREE	25361784		★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Horizontal Nystagmus	Horizontal nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	27016154		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Intellectual developmental disorder	Pubtator	36357319	Associate	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Moderate intellectual disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Movement Disorders	Movement Disorders	BEFREE	27016154		★★★★★ ★☆☆☆☆ Found in Text Mining only
Non-alcoholic Fatty Liver Disease	Non-Alcoholic Fatty Liver Disease	BEFREE	23477746		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 1	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 2	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 4	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 5	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 6 (disorder)	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Spinocerebellar Ataxia Type 7	Spinocerebellar Ataxia	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	Spinocerebellar Ataxia	ORPHANET_DG	25361784		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	Spinocerebellar Ataxia	GENOMICS_ENGLAND_DG	26197978, 30167849		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 17	Spinocerebellar Ataxia	CLINVAR_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Spinocerebellar Ataxias	Spinocerebellar ataxia	Pubtator	36357319	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Steatohepatitis	Fatty Liver	BEFREE	23477746		★★★★★ ★☆☆☆☆ Found in Text Mining only
Synophrys	Synophrys	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CWF19L1 (CWF19 like cell cycle control factor 1)