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

Gene Gene SNPs miRNA Gene ontology Other IDs Protein Pathways Associated diseases
Entrez ID Entrez Gene ID - the GENE ID in NCBI Gene database.	2074
Gene name Gene Name - the full gene name approved by the HGNC.	ERCC excision repair 6, chromatin remodeling factor
Gene symbol Gene Symbol - the official gene symbol approved by the HGNC.	ERCC6
Synonyms (NCBI Gene) Gene synonyms aliases	ARMD5, CKN2, COFS, COFS1, CSB, CSB-PGBD3, POF11, RAD26, UVSS1
Chromosome Chromosome number	10
Chromosome location Chromosomal Location - indicates the cytogenetic location of the gene or region on the chromosome.	10q11.23
Summary Summary of gene provided in NCBI Entrez Gene.	This gene encodes a DNA-binding protein that is important in transcription-coupled excision repair. The encoded protein has ATP-stimulated ATPase activity, interacts with several transcription and excision repair proteins, and may promote complex formatio

Show/Hide all(94)

SNP ID	Visualize variation	Clinical significance	Consequence
rs3793784	G>C	Risk-factor	Genic upstream transcript variant, upstream transcript variant, 5 prime UTR variant
rs4253196	T>C,G	Uncertain-significance, pathogenic	Intron variant, genic downstream transcript variant
rs4253208	G>A,C	Likely-benign, uncertain-significance, conflicting-interpretations-of-pathogenicity, benign-likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs41562713	T>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs55698015	G>A	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760163	G>A	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760166	A>C	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs61760167	T>C,G	Conflicting-interpretations-of-pathogenicity, likely-benign	Missense variant, coding sequence variant, genic downstream transcript variant
rs114832108	G>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, coding sequence variant, synonymous variant
rs115875661	G>A,C	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, synonymous variant, missense variant, coding sequence variant
rs121917900	C>T	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917901	G>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917903	G>A	Pathogenic	Stop gained, coding sequence variant
rs121917904	G>A	Pathogenic, likely-pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs121917905	A>C,G	Pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs138756386	G>A,T	Conflicting-interpretations-of-pathogenicity	Synonymous variant, coding sequence variant
rs139007661	T>A,G	Conflicting-interpretations-of-pathogenicity, uncertain-significance, likely-benign	Genic downstream transcript variant, missense variant, coding sequence variant
rs142219494	C>A	Conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, missense variant, coding sequence variant
rs145720191	C>A,T	Conflicting-interpretations-of-pathogenicity, likely-benign	Coding sequence variant, genic downstream transcript variant, missense variant
rs151242354	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs185142838	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs200832611	T>A,C	Likely-pathogenic	Coding sequence variant, missense variant, genic downstream transcript variant
rs201813523	C>T	Likely-benign, conflicting-interpretations-of-pathogenicity	Coding sequence variant, genic downstream transcript variant, missense variant
rs202080674	G>A	Pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs368728467	A>G,T	Uncertain-significance, pathogenic	Coding sequence variant, genic downstream transcript variant, missense variant
rs371739894	C>A	Likely-pathogenic, pathogenic-likely-pathogenic, pathogenic	Splice donor variant, genic downstream transcript variant
rs373227647	T>C	Pathogenic	Genic downstream transcript variant, splice acceptor variant
rs375617750	C>A,G,T	Uncertain-significance, conflicting-interpretations-of-pathogenicity	Genic downstream transcript variant, intron variant
rs376526037	G>A	Likely-pathogenic, pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs527236039	T>-	Pathogenic	Intron variant
rs577021605	G>A	Likely-pathogenic	Coding sequence variant, stop gained
rs747651923	ATTT>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs751292948	C>G,T	Uncertain-significance, pathogenic	Coding sequence variant, stop gained, missense variant, genic downstream transcript variant
rs751448793	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs751838040	G>A	Pathogenic, likely-pathogenic	Coding sequence variant, stop gained
rs754978734	T>C	Likely-pathogenic	Genic downstream transcript variant, splice acceptor variant
rs762976316	G>A	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, stop gained
rs765825423	CT>-	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs766980240	C>G	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs767247987	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained, genic downstream transcript variant
rs768608345	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs771781694	G>A,T	Likely-pathogenic	Coding sequence variant, synonymous variant, stop gained
rs772801089	G>A	Pathogenic	Coding sequence variant, stop gained, genic downstream transcript variant
rs774791374	->G	Likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205167	->C	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205168	C>-	Pathogenic-likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205169	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205170	->T	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205171	T>-	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205172	->AAGGTGGACCTTAAGCAGCCAGCCCT	Pathogenic, likely-pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs786205173	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs786205174	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs786205175	T>-	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs875989810	C>A	Pathogenic, likely-pathogenic	Stop gained, coding sequence variant
rs901360414	C>T	Likely-pathogenic	Splice acceptor variant
rs906755254	G>A	Pathogenic, likely-pathogenic	Stop gained, genic downstream transcript variant, coding sequence variant
rs1010201937	C>A,T	Likely-pathogenic	Intron variant
rs1057518910	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1064795562	A>G	Likely-pathogenic	Genic downstream transcript variant, missense variant, coding sequence variant
rs1131691890	T>-	Likely-pathogenic	Genic downstream transcript variant, frameshift variant, coding sequence variant
rs1198472093	C>G,T	Likely-pathogenic	Splice donor variant
rs1228919836	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1250248245	C>A	Pathogenic	Genic downstream transcript variant, stop gained, coding sequence variant
rs1287286877	->TC	Likely-pathogenic	Coding sequence variant, genic downstream transcript variant, frameshift variant
rs1307714476	->TG	Pathogenic	Coding sequence variant, frameshift variant, genic downstream transcript variant
rs1317145066	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1362935450	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1386369933	->G	Likely-pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1441655600	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554787509	G>A	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554787554	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554789393	C>TT	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554790012	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554794073	T>C	Likely-pathogenic	Splice acceptor variant
rs1554794342	CTGCTGG>-	Pathogenic	Frameshift variant, coding sequence variant
rs1554794360	G>-	Likely-pathogenic	Stop gained, coding sequence variant
rs1554794590	C>A	Pathogenic	Stop gained, coding sequence variant
rs1554794620	GC>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554794640	G>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554794641	->C	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1554873833	T>G	Pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554873950	A>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554873973	T>C	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554874073	C>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554875114	C>G	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554875154	->A	Likely-pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1554875155	T>-	Likely-pathogenic	Frameshift variant, coding sequence variant, genic downstream transcript variant
rs1554875287	C>T	Likely-pathogenic	Splice acceptor variant, genic downstream transcript variant
rs1554875522	C>T	Likely-pathogenic	Genic downstream transcript variant, splice donor variant
rs1554875536	G>T	Likely-pathogenic	Missense variant, coding sequence variant, genic downstream transcript variant
rs1564725764	C>T	Pathogenic	Stop gained, coding sequence variant, genic downstream transcript variant
rs1590406503	AT>-	Pathogenic	Frameshift variant, genic downstream transcript variant, coding sequence variant
rs1590413260	T>C	Pathogenic	Missense variant, genic downstream transcript variant, coding sequence variant
rs1590492448	CTTGCTCCTGAGT>-	Pathogenic	Frameshift variant, coding sequence variant

Show/Hide all(234)

miRTarBase ID	miRNA	Experiments	Reference
MIRT703877	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT703876	hsa-miR-4477a	HITS-CLIP	23313552
MIRT440713	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT440713	ebv-miR-BART4-5p	HITS-CLIP	22473208
MIRT703877	hsa-miR-126-5p	HITS-CLIP	23313552
MIRT703876	hsa-miR-4477a	HITS-CLIP	23313552
MIRT968531	hsa-miR-122	CLIP-seq
MIRT968532	hsa-miR-1273e	CLIP-seq
MIRT968533	hsa-miR-1324	CLIP-seq
MIRT968534	hsa-miR-137	CLIP-seq
MIRT968535	hsa-miR-15a	CLIP-seq
MIRT968536	hsa-miR-15b	CLIP-seq
MIRT968537	hsa-miR-16	CLIP-seq
MIRT968538	hsa-miR-1827	CLIP-seq
MIRT968539	hsa-miR-186	CLIP-seq
MIRT968540	hsa-miR-193a-5p	CLIP-seq
MIRT968541	hsa-miR-195	CLIP-seq
MIRT968542	hsa-miR-214	CLIP-seq
MIRT968543	hsa-miR-2681	CLIP-seq
MIRT968544	hsa-miR-3117-5p	CLIP-seq
MIRT968545	hsa-miR-3133	CLIP-seq
MIRT968546	hsa-miR-3150a-3p	CLIP-seq
MIRT968547	hsa-miR-3175	CLIP-seq
MIRT968548	hsa-miR-337-5p	CLIP-seq
MIRT968549	hsa-miR-3612	CLIP-seq
MIRT968550	hsa-miR-3613-3p	CLIP-seq
MIRT968551	hsa-miR-3619-5p	CLIP-seq
MIRT968552	hsa-miR-3662	CLIP-seq
MIRT968553	hsa-miR-3691-3p	CLIP-seq
MIRT968554	hsa-miR-3908	CLIP-seq
MIRT968555	hsa-miR-3942-3p	CLIP-seq
MIRT968556	hsa-miR-409-3p	CLIP-seq
MIRT968557	hsa-miR-424	CLIP-seq
MIRT968558	hsa-miR-4266	CLIP-seq
MIRT968559	hsa-miR-4274	CLIP-seq
MIRT968560	hsa-miR-4279	CLIP-seq
MIRT968561	hsa-miR-4291	CLIP-seq
MIRT968562	hsa-miR-4307	CLIP-seq
MIRT968563	hsa-miR-4475	CLIP-seq
MIRT968564	hsa-miR-4476	CLIP-seq
MIRT968565	hsa-miR-4495	CLIP-seq
MIRT968566	hsa-miR-4505	CLIP-seq
MIRT968567	hsa-miR-4524	CLIP-seq
MIRT968568	hsa-miR-4527	CLIP-seq
MIRT968569	hsa-miR-4528	CLIP-seq
MIRT968570	hsa-miR-4651	CLIP-seq
MIRT968571	hsa-miR-4690-5p	CLIP-seq
MIRT968572	hsa-miR-4695-5p	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT968574	hsa-miR-4779	CLIP-seq
MIRT968575	hsa-miR-488	CLIP-seq
MIRT968576	hsa-miR-491-5p	CLIP-seq
MIRT968577	hsa-miR-497	CLIP-seq
MIRT968578	hsa-miR-499-3p	CLIP-seq
MIRT968579	hsa-miR-499a-3p	CLIP-seq
MIRT968580	hsa-miR-503	CLIP-seq
MIRT968581	hsa-miR-548c-3p	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT968583	hsa-miR-592	CLIP-seq
MIRT968584	hsa-miR-597	CLIP-seq
MIRT968585	hsa-miR-608	CLIP-seq
MIRT968586	hsa-miR-622	CLIP-seq
MIRT968587	hsa-miR-646	CLIP-seq
MIRT968588	hsa-miR-650	CLIP-seq
MIRT968589	hsa-miR-651	CLIP-seq
MIRT968590	hsa-miR-668	CLIP-seq
MIRT968591	hsa-miR-761	CLIP-seq
MIRT968592	hsa-miR-922	CLIP-seq
MIRT968593	hsa-miR-939	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1548403	hsa-miR-125a-5p	CLIP-seq
MIRT1548404	hsa-miR-125b	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT1548408	hsa-miR-3913-3p	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548411	hsa-miR-4319	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT1548415	hsa-miR-495	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq
MIRT1987065	hsa-miR-105	CLIP-seq
MIRT1987066	hsa-miR-1202	CLIP-seq
MIRT968531	hsa-miR-122	CLIP-seq
MIRT1987067	hsa-miR-1253	CLIP-seq
MIRT1987068	hsa-miR-1254	CLIP-seq
MIRT1987069	hsa-miR-147	CLIP-seq
MIRT1987070	hsa-miR-1587	CLIP-seq
MIRT968540	hsa-miR-193a-5p	CLIP-seq
MIRT1987071	hsa-miR-3116	CLIP-seq
MIRT1987072	hsa-miR-3158-5p	CLIP-seq
MIRT1987073	hsa-miR-3166	CLIP-seq
MIRT1987074	hsa-miR-3194-5p	CLIP-seq
MIRT968548	hsa-miR-337-5p	CLIP-seq
MIRT1987075	hsa-miR-3972	CLIP-seq
MIRT1987076	hsa-miR-3977	CLIP-seq
MIRT1987077	hsa-miR-4254	CLIP-seq
MIRT1987078	hsa-miR-4265	CLIP-seq
MIRT1987079	hsa-miR-4296	CLIP-seq
MIRT1987080	hsa-miR-4322	CLIP-seq
MIRT1987081	hsa-miR-433	CLIP-seq
MIRT1987082	hsa-miR-4417	CLIP-seq
MIRT1987083	hsa-miR-4470	CLIP-seq
MIRT1987084	hsa-miR-4492	CLIP-seq
MIRT1987085	hsa-miR-4498	CLIP-seq
MIRT968566	hsa-miR-4505	CLIP-seq
MIRT968568	hsa-miR-4527	CLIP-seq
MIRT1987086	hsa-miR-4656	CLIP-seq
MIRT1987087	hsa-miR-4675	CLIP-seq
MIRT1987088	hsa-miR-4722-3p	CLIP-seq
MIRT1987089	hsa-miR-4741	CLIP-seq
MIRT1987090	hsa-miR-4763-5p	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT1987091	hsa-miR-522	CLIP-seq
MIRT1987092	hsa-miR-596	CLIP-seq
MIRT968584	hsa-miR-597	CLIP-seq
MIRT1987093	hsa-miR-599	CLIP-seq
MIRT968590	hsa-miR-668	CLIP-seq
MIRT1987094	hsa-miR-762	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1987065	hsa-miR-105	CLIP-seq
MIRT2221463	hsa-miR-1200	CLIP-seq
MIRT2221464	hsa-miR-1225-5p	CLIP-seq
MIRT2221465	hsa-miR-1252	CLIP-seq
MIRT1987067	hsa-miR-1253	CLIP-seq
MIRT1548403	hsa-miR-125a-5p	CLIP-seq
MIRT1548404	hsa-miR-125b	CLIP-seq
MIRT968532	hsa-miR-1273e	CLIP-seq
MIRT2221466	hsa-miR-1273g	CLIP-seq
MIRT968534	hsa-miR-137	CLIP-seq
MIRT1987069	hsa-miR-147	CLIP-seq
MIRT1987070	hsa-miR-1587	CLIP-seq
MIRT968538	hsa-miR-1827	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT968542	hsa-miR-214	CLIP-seq
MIRT2221467	hsa-miR-2277-3p	CLIP-seq
MIRT2221468	hsa-miR-3144-3p	CLIP-seq
MIRT968546	hsa-miR-3150a-3p	CLIP-seq
MIRT2221469	hsa-miR-3151	CLIP-seq
MIRT968547	hsa-miR-3175	CLIP-seq
MIRT2221470	hsa-miR-3200-3p	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT968549	hsa-miR-3612	CLIP-seq
MIRT968551	hsa-miR-3619-5p	CLIP-seq
MIRT2221471	hsa-miR-3650	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT2221472	hsa-miR-3911	CLIP-seq
MIRT1548408	hsa-miR-3913-3p	CLIP-seq
MIRT2221473	hsa-miR-3919	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT968555	hsa-miR-3942-3p	CLIP-seq
MIRT2221474	hsa-miR-3944-5p	CLIP-seq
MIRT2221475	hsa-miR-4251	CLIP-seq
MIRT2221476	hsa-miR-4261	CLIP-seq
MIRT1987078	hsa-miR-4265	CLIP-seq
MIRT968561	hsa-miR-4291	CLIP-seq
MIRT1987079	hsa-miR-4296	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548411	hsa-miR-4319	CLIP-seq
MIRT1987080	hsa-miR-4322	CLIP-seq
MIRT2221477	hsa-miR-4324	CLIP-seq
MIRT1987082	hsa-miR-4417	CLIP-seq
MIRT2221478	hsa-miR-4426	CLIP-seq
MIRT2221479	hsa-miR-4447	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT2221480	hsa-miR-4472	CLIP-seq
MIRT1987084	hsa-miR-4492	CLIP-seq
MIRT2221481	hsa-miR-4496	CLIP-seq
MIRT1987085	hsa-miR-4498	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT2221482	hsa-miR-4647	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT968570	hsa-miR-4651	CLIP-seq
MIRT1987086	hsa-miR-4656	CLIP-seq
MIRT2221483	hsa-miR-4662b	CLIP-seq
MIRT1987087	hsa-miR-4675	CLIP-seq
MIRT2221484	hsa-miR-4696	CLIP-seq
MIRT1987089	hsa-miR-4741	CLIP-seq
MIRT968573	hsa-miR-4771	CLIP-seq
MIRT2221485	hsa-miR-4793-5p	CLIP-seq
MIRT968576	hsa-miR-491-5p	CLIP-seq
MIRT1548415	hsa-miR-495	CLIP-seq
MIRT2221486	hsa-miR-519a	CLIP-seq
MIRT2221487	hsa-miR-519b-3p	CLIP-seq
MIRT2221488	hsa-miR-519c-3p	CLIP-seq
MIRT2221489	hsa-miR-544b	CLIP-seq
MIRT2221490	hsa-miR-555	CLIP-seq
MIRT968582	hsa-miR-561	CLIP-seq
MIRT2221491	hsa-miR-582-5p	CLIP-seq
MIRT1987093	hsa-miR-599	CLIP-seq
MIRT968585	hsa-miR-608	CLIP-seq
MIRT2221492	hsa-miR-644	CLIP-seq
MIRT968588	hsa-miR-650	CLIP-seq
MIRT968591	hsa-miR-761	CLIP-seq
MIRT1987094	hsa-miR-762	CLIP-seq
MIRT2221493	hsa-miR-875-5p	CLIP-seq
MIRT968592	hsa-miR-922	CLIP-seq
MIRT968593	hsa-miR-939	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq
MIRT1548395	hsa-let-7a	CLIP-seq
MIRT1548396	hsa-let-7b	CLIP-seq
MIRT1548397	hsa-let-7c	CLIP-seq
MIRT1548398	hsa-let-7d	CLIP-seq
MIRT1548399	hsa-let-7e	CLIP-seq
MIRT1548400	hsa-let-7f	CLIP-seq
MIRT1548401	hsa-let-7g	CLIP-seq
MIRT1548402	hsa-let-7i	CLIP-seq
MIRT1548405	hsa-miR-202	CLIP-seq
MIRT1548406	hsa-miR-3529	CLIP-seq
MIRT1548407	hsa-miR-379	CLIP-seq
MIRT1548409	hsa-miR-3927	CLIP-seq
MIRT1548410	hsa-miR-4303	CLIP-seq
MIRT1548412	hsa-miR-4458	CLIP-seq
MIRT1548413	hsa-miR-4500	CLIP-seq
MIRT1548414	hsa-miR-4649-3p	CLIP-seq
MIRT1548416	hsa-miR-98	CLIP-seq

Show/Hide all(89)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000012	Process	Single strand break repair	IDA	29545921
GO:0000077	Process	DNA damage checkpoint signaling	IMP	25820262
GO:0000166	Function	Nucleotide binding	IEA
GO:0000303	Process	Response to superoxide	IEA
GO:0002230	Process	Positive regulation of defense response to virus by host	IMP	22483866
GO:0003677	Function	DNA binding	IDA	8999876, 12560492, 16107709
GO:0003677	Function	DNA binding	IEA
GO:0003678	Function	DNA helicase activity	IDA	8999876
GO:0003682	Function	Chromatin binding	IDA	26620705
GO:0003682	Function	Chromatin binding	IMP	25820262
GO:0004386	Function	Helicase activity	IEA
GO:0005515	Function	Protein binding	IPI	7663514, 7664335, 8999876, 10944529, 16107709, 16246722, 17626041, 22466612, 24874740, 26030138, 28292928, 29203878
GO:0005524	Function	ATP binding	IDA	12560492, 16107709
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	32355176
GO:0005634	Component	Nucleus	IDA	12560492, 17626041
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA	16107709
GO:0005654	Component	Nucleoplasm	TAS
GO:0005694	Component	Chromosome	IEA
GO:0005730	Component	Nucleolus	IDA	16107709, 17626041
GO:0005730	Component	Nucleolus	NAS	23555303
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IEA
GO:0006281	Process	DNA repair	IMP	26218421
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IBA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IDA	9565609, 32355176, 34526721, 38316879, 38600235
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IEA
GO:0006283	Process	Transcription-coupled nucleotide-excision repair	IMP	10564257, 26620705
GO:0006284	Process	Base-excision repair	IMP	9973627
GO:0006290	Process	Pyrimidine dimer repair	IEA
GO:0006338	Process	Chromatin remodeling	NAS	12769854
GO:0006362	Process	Transcription elongation by RNA polymerase I	IEA
GO:0006366	Process	Transcription by RNA polymerase II	NAS	7664335
GO:0006974	Process	DNA damage response	IEA
GO:0006974	Process	DNA damage response	IEA
GO:0006979	Process	Response to oxidative stress	IDA	16107709
GO:0006979	Process	Response to oxidative stress	IEA
GO:0006979	Process	Response to oxidative stress	IGI	17626041
GO:0007254	Process	JNK cascade	IEA
GO:0007399	Process	Nervous system development	IEA
GO:0008023	Component	Transcription elongation factor complex	IDA	9326587
GO:0008094	Function	ATP-dependent activity, acting on DNA	IDA	8999876, 12560492, 16107709
GO:0008094	Function	ATP-dependent activity, acting on DNA	IMP	25820262
GO:0008630	Process	Intrinsic apoptotic signaling pathway in response to DNA damage	IEA
GO:0009411	Process	Response to UV	IEA
GO:0009636	Process	Response to toxic substance	IEA
GO:0010165	Process	Response to X-ray	IEA
GO:0010224	Process	Response to UV-B	IEA
GO:0010332	Process	Response to gamma radiation	IEA
GO:0010628	Process	Positive regulation of gene expression	HMP	22483866
GO:0010628	Process	Positive regulation of gene expression	IMP	22483866
GO:0016567	Process	Protein ubiquitination	IDA	34526721
GO:0016604	Component	Nuclear body	IDA
GO:0016787	Function	Hydrolase activity	IEA
GO:0016887	Function	ATP hydrolysis activity	IEA
GO:0022008	Process	Neurogenesis	IMP	24874740
GO:0030182	Process	Neuron differentiation	IMP	24874740
GO:0030296	Function	Protein tyrosine kinase activator activity	IDA	17626041
GO:0031175	Process	Neuron projection development	IMP	24874740
GO:0032784	Process	Regulation of DNA-templated transcription elongation	IDA	9326587
GO:0032786	Process	Positive regulation of DNA-templated transcription, elongation	IDA	9326587
GO:0033141	Process	Positive regulation of peptidyl-serine phosphorylation of STAT protein	IMP	22483866
GO:0034243	Process	Regulation of transcription elongation by RNA polymerase II	IEA
GO:0035264	Process	Multicellular organism growth	IEA
GO:0042262	Process	DNA protection	IEA
GO:0043565	Function	Sequence-specific DNA binding	IDA	22483866
GO:0045494	Process	Photoreceptor cell maintenance	IEA
GO:0045739	Process	Positive regulation of DNA repair	IGI	22483866
GO:0045739	Process	Positive regulation of DNA repair	IMP	22483866
GO:0045943	Process	Positive regulation of transcription by RNA polymerase I	NAS	23555303
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	NAS	26044184
GO:0045945	Process	Positive regulation of transcription by RNA polymerase III	IDA	16603771
GO:0060261	Process	Positive regulation of transcription initiation by RNA polymerase II	IEA
GO:0070063	Function	RNA polymerase binding	IDA	26218421
GO:0071168	Process	Protein localization to chromatin	IDA	32355176
GO:0090734	Component	Site of DNA damage	IDA	32355176
GO:0090734	Component	Site of DNA damage	IDA	28292928
GO:0097680	Process	Double-strand break repair via classical nonhomologous end joining	IDA	29545921
GO:0110016	Component	B-WICH complex	IDA	16603771
GO:0140463	Function	Chromatin-protein adaptor activity	IDA	32355176
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IBA
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IDA	9565609
GO:0140658	Function	ATP-dependent chromatin remodeler activity	IMP	29203878
GO:0140664	Function	ATP-dependent DNA damage sensor activity	IDA	32355176
GO:1905168	Process	Positive regulation of double-strand break repair via homologous recombination	IMP	25820262
GO:2001033	Process	Negative regulation of double-strand break repair via nonhomologous end joining	IMP	25820262

MIM	HGNC	e!Ensembl
609413	3438	ENSG00000225830

Protein

UniProt ID

P0DP91

Protein name

Chimeric ERCC6-PGBD3 protein (Chimeric CSB-PGBD3 protein)

Protein function

Involved in repair of DNA damage following UV irradiation, acting either in the absence of ERCC6 or synergistically with ERCC6. Involved in the regulation of gene expression. In the absence of ERCC6, induces the expression of genes characteristi

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF13843	DDE_Tnp_1_7	609 → 967	Transposase IS4	Domain

Tissue specificity

TISSUE SPECIFICITY: Expressed in heart and oocytes, but not in granulosa cells (at protein level). {ECO:0000269|PubMed:26218421}.

Sequence

MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLSPKMPRTLSLHEITD
LLETDDSIEASAIVIQPPENATAPVSDEESGDEEGGTINNLPGSLLHTAAYLIQDGSDAE
SDSDDPSYAPKDDSPDEVPSTFTVQQPPPSRRRKMTKILCKWKKADLTVQPVAGRVTAPP
NDFFTVMRTPTEILELFLDDEVIELIVKYSNLYACSKGVHLGLTSSEFKCFLGIIFLSGY
VSVPRRRMFWEQRTDVHNVLVSAAMRRDRFETIFSNLHVADNANLDPVDKFSKLRPLISK
LNERCMKFVPNETYFSFDEFMVPYFGRHGCKQFIRGKPIRFGYKFWCGATCLGYICWFQP
YQGKNPNTKHEEYGVGASLVLQFSEALTEAHPGQYHFVFNNFFTSIALLDKLSSMGHQAT
GTVRKDHIDRVPLESDVALKKKERGTFDYRIDGKGNIVCRWNDNSVVTVASSGAGIHPLC
LVSRYSQKLKKKIQVQQPNMIKVYNQFMGGVDRADENIDKYRASIRGKKWYSSPLLFCFE
LVLQNAWQLHKTYDEKPVDFLEFRRRVVCHYLETHGHPPEPGQKGRPQKRNIDSRYDGIN
HVIVKQGKQTRCAECHKNTTFRCEKCDVALHVKCSVEYHTE

Sequence length

1061

UniProt ID

Q03468

Protein name

DNA excision repair protein ERCC-6 (EC 3.6.4.-) (ATP-dependent helicase ERCC6) (Cockayne syndrome protein CSB)

Protein function

Essential factor involved in transcription-coupled nucleotide excision repair (TC-NER), a process during which RNA polymerase II-blocking lesions are rapidly removed from the transcribed strand of active genes (PubMed:16246722, PubMed:20541997,

PDB

4CVO , 7OO3 , 7OOB , 7OOP , 7OPC , 7OPD , 8B3D , 8B3F , 9BZ0 , 9ER2 , 9FD2

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00176	SNF2_N	506 → 812	SNF2 family N-terminal domain	Family
PF00271	Helicase_C	840 → 952	Helicase conserved C-terminal domain	Family

Sequence

MPNEGIPHSSQTQEQDCLQSQPVSNNEEMAIKQESGGDGEVEEYLSFRSVGDGLSTSAVG
CASAAPRRGPALLHIDRHQIQAVEPSAQALELQGLGVDVYDQDVLEQGVLQQVDNAIHEA
SRASQLVDVEKEYRSVLDDLTSCTTSLRQINKIIEQLSPQAATSRDINRKLDSVKRQKYN
KEQQLKKITAKQKHLQAILGGAEVKIELDHASLEEDAEPGPSSLGSMLMPVQETAWEELI
RTGQMTPFGTQIPQKQEKKPRKIMLNEASGFEKYLADQAKLSFERKKQGCNKRAARKAPA
PVTPPAPVQNKNKPNKKARVLSKKEERLKKHIKKLQKRALQFQGKVGLPKARRPWESDMR
PEAEGDSEGEESEYFPTEEEEEEEDDEVEGAEADLSGDGTDYELKPLPKGGKRQKKVPVQ
EIDDDFFPSSGEEAEAASVGEGGGGGRKVGRYRDDGDEDYYKQRLRRWNKLRLQDKEKRL
KLEDDSEESDAEFDEGFKVPGFLFKKLFKYQQTGVRWLWELHCQQAGGILGDEMGLGKTI
QIIAFLAGLSYSKIRTRGSNYRFEGLGPTVIVCPTTVMHQWVKEFHTWWPPFRVAILHET
GSYTHKKEKLIRDVAHCHGILITSYSYIRLMQDDISRYDWHYVILDEGHKIRNPNAAVTL
ACKQFRTPHRIILSGSPMQNNLRELWSLFDFIFPGKLGTLPVFMEQFSVPITMGGYSNAS
PVQVKTAYKCACVLRDTINPYLLRRMKSDVKMSLSLPDKNEQVLFCRLTDEQHKVYQNFV
DSKEVYRILNGEMQIFSGLIALRKICNHPDLFSGGPKNLKGLPDDELEEDQFGYWKRSGK
MIVVESLLKIWHKQGQRVLLFSQSRQMLDILEVFLRAQKYTYLKMDGTTTIASRQPLITR
YNEDTSIFVFLLTTRVGGLGVNLTGANRVVIYDPDWNPSTDTQARERAWRIGQKKQVTVY
RLLTAGTIEEKIYHRQIFKQFLTNRVLKDPKQRRFFKSNDLYELFTLTSPDASQSTETSA
IFAGTGSDVQTPKCHLKRRIQPAFGADHDVPKRKKFPASNISVNDATSSEEKSEAKGAEV
NAVTSNRSDPLKDDPHMSSNVTSNDRLGEETNAVSGPEELSVISGNGECSNSSGTGKTSM
PSGDESIDEKLGLSYKRERPSQAQTEAFWENKQMENNFYKHKSKTKHHSVAEEETLEKHL
RPKQKPKNSKHCRDAKFEGTRIPHLVKKRRYQKQDSENKSEAKEQSNDDYVLEKLFKKSV
GVHSVMKHDAIMDGASPDYVLVEAEANRVAQDALKALRLSRQRCLGAVSGVPTWTGHRGI
SGAPAGKKSRFGKKRNSNFSVQHPSSTSPTEKCQDGIMKKEGKDNVPEHFSGRAEDADSS
SGPLASSSLLAKMRARNHLILPERLESESGHLQEASALLPTTEHDDLLVEMRNFIAFQAH
TDGQASTREILQEFESKLSASQSCVFRELLRNLCTFHRTSGGEGIWKLKPEYC

Sequence length

1493

Interactions

View interactions

	KEGG		Reactome
	Nucleotide excision repair		B-WICH complex positively regulates rRNA expression Formation of TC-NER Pre-Incision Complex Transcription-Coupled Nucleotide Excision Repair (TC-NER) Dual incision in TC-NER Gap-filling DNA repair synthesis and ligation in TC-NER RNA Polymerase I Transcription Initiation

Show/Hide Causal Diseases (3)

Disease merge term	Disease name	dbSNP ID	References
Causal Diseases caused by PATHOGENIC or LIKELY PATHOGENIC variants from ClinVar only
Cerebrooculofacioskeletal Syndrome	cerebrooculofacioskeletal syndrome 1	rs758341467, rs121917904, rs1554793305, rs786205172, rs1590413260, rs121917901, rs185142838, rs376526037	N/A
Cockayne Syndrome	cockayne syndrome type 2, cockayne syndrome	rs772801089, rs786205175, rs754978734, rs4253196, rs1850531575, rs371739894, rs751292948, rs765825423, rs771781694, rs121917903, rs786205168, rs1554875536, rs151242354, rs786205166, rs906755254 View all (34 more)	N/A
Premature Ovarian Failure	premature ovarian failure 11	rs878854403, rs875989810	N/A

Show/Hide Unknown Diseases (1)

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.
Macular Degeneration	macular degeneration	N/A	N/A	ClinVar

Show/Hide Text Mining Associations (57)

Disease Name	Relationship Type	References
Associations from Text Mining Disease associations identified through Pubtator
Aging Premature	Associate	25251875
Breast Neoplasms	Associate	37493170
Carcinogenesis	Associate	17854076, 26344056
Carcinoma Basal Cell	Associate	22336945
Cataract Age Related Nuclear	Associate	27231489
Cerebellar Ataxia	Associate	37532514
Cerebrooculofacioskeletal Syndrome 1	Associate	31124294
Cockayne Syndrome	Associate	11443545, 11581270, 11713297, 11809892, 16128801, 16246722, 16601682, 16751180, 17055654, 17854076, 19389114, 20122405, 20181933, 20541997, 21072178 View all (54 more)
Cockayne Syndrome	Stimulate	27004399
Cognition Disorders	Associate	25251875
Colorectal Neoplasms	Associate	26344056, 34045552
Craniocerebral Trauma	Associate	28562347
Demyelinating Autoimmune Diseases CNS	Associate	25251875
Gastritis Atrophic	Associate	24586594, 28562347
Genetic Diseases Inborn	Associate	26030138
Glioblastoma	Associate	11438483
Glioma	Associate	11438483
Hamartoma Syndrome Multiple	Associate	26030138, 28253359, 29057985, 8876179
Head and Neck Neoplasms	Associate	23720401
Heredodegenerative Disorders Nervous System	Associate	23637612
Hypoxia	Associate	32664519, 35455966
Hypoxia Brain	Associate	32664519
Intellectual Disability	Associate	25251875
Leukemia Myeloid Acute	Associate	32868804
Lung Neoplasms	Associate	17854076
Macular Degeneration	Associate	21072178, 31583032
Margins of Excision	Associate	27004399
Melanoma	Associate	23659246
Microcephaly	Associate	25251875
Mitochondrial Diseases	Associate	19389114, 31276581, 31811121
Musculoskeletal Diseases	Associate	31124294
Neoplasms	Inhibit	11438483
Neoplasms	Associate	20470425, 21852235, 24289586, 24289633, 25634215, 28253359, 33806087
Nerve Degeneration	Associate	25820262, 26030138
Nervous System Diseases	Associate	34076366
Neuroblastoma	Stimulate	34576232
Neurocutaneous Syndromes	Associate	35254895
Neurodegenerative Diseases	Associate	24874740
Neurologic Manifestations	Associate	15486090, 25251875, 30032309
Non Muscle Invasive Bladder Neoplasms	Associate	26649138
Oculocerebrorenal Syndrome	Associate	11443545
Organizing Pneumonia	Associate	26030138
Ovarian Diseases	Associate	39595984
Primary Ovarian Insufficiency	Associate	26218421, 33538981, 35975393, 36099812, 39595984
Prostatic Neoplasms	Associate	24289586, 24615090, 32300177
Protein Losing Enteropathies	Associate	31583032
Protein S Deficiency	Associate	19329487, 22466610, 26038566
Renal Insufficiency	Associate	25251875, 26030138
Skin Neoplasms	Associate	22336945
Smoke Inhalation Injury	Associate	23720401
Squamous Cell Carcinoma of Head and Neck	Stimulate	11900225
Stomach Neoplasms	Associate	24289633, 24586594, 27340861, 28562347, 30417012
Tinnitus	Associate	29649050
Urinary Bladder Neoplasms	Associate	20044625, 26649138
UV Sensitive Syndrome	Associate	15486090, 22483866, 26038566, 29057985, 37688320
Werner Syndrome	Associate	26344056
Xeroderma Pigmentosum	Stimulate	27004399

ERCC6 (ERCC excision repair 6, chromatin remodeling factor)