CDC6 (cell division cycle 6)

Gene

• Entrez ID: 990
• Gene name: Cell division cycle 6
• Gene symbol: CDC6
• Synonyms (NCBI Gene): CDC18L, HsCDC18, HsCDC6, MGORS5
• Chromosome: 17
• Chromosome location: 17q21.2
• Summary: The protein encoded by this gene is highly similar to Saccharomyces cerevisiae Cdc6, a protein essential for the initiation of DNA replication. This protein functions as a regulator at the early steps of DNA replication. It localizes in cell nucleus durin

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs4135010	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200468440	C>G	Likely-pathogenic, uncertain-significance	Stop gained, coding sequence variant
rs387906842	C>G,T	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT001022	hsa-miR-26a-5p	Western blot	18713946
MIRT016523	hsa-miR-193b-3p	Microarray	20304954
MIRT021602	hsa-miR-142-3p	Microarray	17612493
MIRT041141	hsa-miR-501-5p	CLASH	23622248
MIRT040157	hsa-miR-615-3p	CLASH	23622248
MIRT038272	hsa-miR-361-3p	CLASH	23622248
MIRT438186	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT438186	hsa-miR-675-5p	Luciferase reporter assay, qRT-PCR, Western blot	24532688
MIRT707722	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707721	hsa-miR-548aa	HITS-CLIP	21572407
MIRT707720	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT707719	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT707718	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT707717	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707716	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707715	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707714	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707713	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707712	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707711	hsa-miR-4421	HITS-CLIP	21572407
MIRT707710	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707708	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707709	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707707	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707706	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT728009	hsa-miR-92a-3p	HITS-CLIP	22473208
MIRT728008	hsa-miR-92b-3p	HITS-CLIP	22473208
MIRT728007	hsa-miR-32-5p	HITS-CLIP	22473208
MIRT001022	hsa-miR-26a-5p	Luciferase reporter assay	27158389
MIRT707722	hsa-miR-548c-3p	HITS-CLIP	21572407
MIRT707721	hsa-miR-548aa	HITS-CLIP	21572407
MIRT707720	hsa-miR-548ap-3p	HITS-CLIP	21572407
MIRT707719	hsa-miR-548t-3p	HITS-CLIP	21572407
MIRT707718	hsa-miR-548as-3p	HITS-CLIP	21572407
MIRT707717	hsa-miR-548at-3p	HITS-CLIP	21572407
MIRT707716	hsa-miR-548ay-3p	HITS-CLIP	21572407
MIRT707715	hsa-miR-6732-3p	HITS-CLIP	21572407
MIRT707714	hsa-miR-10a-5p	HITS-CLIP	21572407
MIRT707713	hsa-miR-10b-5p	HITS-CLIP	21572407
MIRT707712	hsa-miR-339-5p	HITS-CLIP	21572407
MIRT707711	hsa-miR-4421	HITS-CLIP	21572407
MIRT707710	hsa-miR-5699-3p	HITS-CLIP	21572407
MIRT707708	hsa-miR-6895-3p	HITS-CLIP	21572407
MIRT707709	hsa-miR-593-3p	HITS-CLIP	21572407
MIRT707707	hsa-miR-4684-5p	HITS-CLIP	21572407
MIRT707706	hsa-miR-6818-3p	HITS-CLIP	21572407
MIRT755802	miR-22	Luciferase reporter assay, Western blotting, Microarray, qRT-PCR, RNA pull down assay	37501932
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT878531	hsa-miR-1249	CLIP-seq
MIRT878532	hsa-miR-1279	CLIP-seq
MIRT878533	hsa-miR-1297	CLIP-seq
MIRT878534	hsa-miR-1302	CLIP-seq
MIRT878535	hsa-miR-1321	CLIP-seq
MIRT878536	hsa-miR-136	CLIP-seq
MIRT878537	hsa-miR-199a-5p	CLIP-seq
MIRT878538	hsa-miR-199b-5p	CLIP-seq
MIRT878539	hsa-miR-24	CLIP-seq
MIRT878540	hsa-miR-26a	CLIP-seq
MIRT878541	hsa-miR-26b	CLIP-seq
MIRT878542	hsa-miR-3064-3p	CLIP-seq
MIRT878543	hsa-miR-3115	CLIP-seq
MIRT878544	hsa-miR-3130-3p	CLIP-seq
MIRT878545	hsa-miR-3162-5p	CLIP-seq
MIRT878546	hsa-miR-3178	CLIP-seq
MIRT878547	hsa-miR-3189-3p	CLIP-seq
MIRT878548	hsa-miR-329	CLIP-seq
MIRT878549	hsa-miR-3529	CLIP-seq
MIRT878550	hsa-miR-3613-5p	CLIP-seq
MIRT878551	hsa-miR-362-3p	CLIP-seq
MIRT878552	hsa-miR-3662	CLIP-seq
MIRT878553	hsa-miR-3667-5p	CLIP-seq
MIRT878554	hsa-miR-3689a-3p	CLIP-seq
MIRT878555	hsa-miR-3689c	CLIP-seq
MIRT878556	hsa-miR-371b-3p	CLIP-seq
MIRT878557	hsa-miR-379	CLIP-seq
MIRT878558	hsa-miR-3909	CLIP-seq
MIRT878559	hsa-miR-3941	CLIP-seq
MIRT878560	hsa-miR-3974	CLIP-seq
MIRT878561	hsa-miR-409-3p	CLIP-seq
MIRT878562	hsa-miR-4282	CLIP-seq
MIRT878563	hsa-miR-4284	CLIP-seq
MIRT878564	hsa-miR-4298	CLIP-seq
MIRT878565	hsa-miR-4318	CLIP-seq
MIRT878566	hsa-miR-4436b-3p	CLIP-seq
MIRT878567	hsa-miR-4451	CLIP-seq
MIRT878568	hsa-miR-4465	CLIP-seq
MIRT878569	hsa-miR-4486	CLIP-seq
MIRT878570	hsa-miR-4536	CLIP-seq
MIRT878571	hsa-miR-4648	CLIP-seq
MIRT878572	hsa-miR-4650-3p	CLIP-seq
MIRT878573	hsa-miR-4654	CLIP-seq
MIRT878574	hsa-miR-4663	CLIP-seq
MIRT878575	hsa-miR-4672	CLIP-seq
MIRT878576	hsa-miR-4686	CLIP-seq
MIRT878577	hsa-miR-4691-5p	CLIP-seq
MIRT878578	hsa-miR-4731-3p	CLIP-seq
MIRT878579	hsa-miR-4739	CLIP-seq
MIRT878580	hsa-miR-4756-5p	CLIP-seq
MIRT878581	hsa-miR-4760-3p	CLIP-seq
MIRT878582	hsa-miR-4761-5p	CLIP-seq
MIRT878583	hsa-miR-4762-5p	CLIP-seq
MIRT878584	hsa-miR-4769-5p	CLIP-seq
MIRT878585	hsa-miR-4778-5p	CLIP-seq
MIRT878586	hsa-miR-4789-5p	CLIP-seq
MIRT878587	hsa-miR-4793-3p	CLIP-seq
MIRT878588	hsa-miR-4795-3p	CLIP-seq
MIRT878589	hsa-miR-4801	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878591	hsa-miR-545	CLIP-seq
MIRT878592	hsa-miR-548u	CLIP-seq
MIRT878593	hsa-miR-555	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT878595	hsa-miR-603	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT878597	hsa-miR-656	CLIP-seq
MIRT878598	hsa-miR-664	CLIP-seq
MIRT878599	hsa-miR-767-5p	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960435	hsa-miR-1202	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT1960437	hsa-miR-1299	CLIP-seq
MIRT1960438	hsa-miR-139-3p	CLIP-seq
MIRT1960439	hsa-miR-1827	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960441	hsa-miR-31	CLIP-seq
MIRT1960442	hsa-miR-3123	CLIP-seq
MIRT1960443	hsa-miR-3137	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960445	hsa-miR-3194-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960447	hsa-miR-33a	CLIP-seq
MIRT1960448	hsa-miR-33b	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT1960451	hsa-miR-3929	CLIP-seq
MIRT1960452	hsa-miR-3972	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960454	hsa-miR-4419b	CLIP-seq
MIRT1960455	hsa-miR-4427	CLIP-seq
MIRT878566	hsa-miR-4436b-3p	CLIP-seq
MIRT1960456	hsa-miR-4478	CLIP-seq
MIRT1960457	hsa-miR-4521	CLIP-seq
MIRT1960458	hsa-miR-4649-3p	CLIP-seq
MIRT1960459	hsa-miR-4782-5p	CLIP-seq
MIRT1960460	hsa-miR-485-5p	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT1960462	hsa-miR-516b	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878591	hsa-miR-545	CLIP-seq
MIRT878592	hsa-miR-548u	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT1960435	hsa-miR-1202	CLIP-seq
MIRT2197212	hsa-miR-1253	CLIP-seq
MIRT878532	hsa-miR-1279	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT878533	hsa-miR-1297	CLIP-seq
MIRT878535	hsa-miR-1321	CLIP-seq
MIRT2197213	hsa-miR-1972	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT878540	hsa-miR-26a	CLIP-seq
MIRT878541	hsa-miR-26b	CLIP-seq
MIRT1960442	hsa-miR-3123	CLIP-seq
MIRT1960443	hsa-miR-3137	CLIP-seq
MIRT878545	hsa-miR-3162-5p	CLIP-seq
MIRT2197214	hsa-miR-3174	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960445	hsa-miR-3194-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT878548	hsa-miR-329	CLIP-seq
MIRT2197215	hsa-miR-342-5p	CLIP-seq
MIRT2197216	hsa-miR-34b	CLIP-seq
MIRT2197217	hsa-miR-3614-5p	CLIP-seq
MIRT878551	hsa-miR-362-3p	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT2197218	hsa-miR-3656	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2197219	hsa-miR-3919	CLIP-seq
MIRT2197220	hsa-miR-3925-5p	CLIP-seq
MIRT878559	hsa-miR-3941	CLIP-seq
MIRT1960452	hsa-miR-3972	CLIP-seq
MIRT878560	hsa-miR-3974	CLIP-seq
MIRT878562	hsa-miR-4282	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960455	hsa-miR-4427	CLIP-seq
MIRT878568	hsa-miR-4465	CLIP-seq
MIRT2197221	hsa-miR-4468	CLIP-seq
MIRT2197222	hsa-miR-4474-5p	CLIP-seq
MIRT2197223	hsa-miR-4646-5p	CLIP-seq
MIRT2197224	hsa-miR-4650-5p	CLIP-seq
MIRT2197225	hsa-miR-4651	CLIP-seq
MIRT2197226	hsa-miR-4664-5p	CLIP-seq
MIRT878575	hsa-miR-4672	CLIP-seq
MIRT2197227	hsa-miR-4714-3p	CLIP-seq
MIRT2197228	hsa-miR-4718	CLIP-seq
MIRT2197229	hsa-miR-4732-5p	CLIP-seq
MIRT878579	hsa-miR-4739	CLIP-seq
MIRT2197230	hsa-miR-4747-3p	CLIP-seq
MIRT2197231	hsa-miR-4747-5p	CLIP-seq
MIRT878580	hsa-miR-4756-5p	CLIP-seq
MIRT878581	hsa-miR-4760-3p	CLIP-seq
MIRT878582	hsa-miR-4761-5p	CLIP-seq
MIRT878586	hsa-miR-4789-5p	CLIP-seq
MIRT2197232	hsa-miR-490-3p	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2197233	hsa-miR-523	CLIP-seq
MIRT878590	hsa-miR-541	CLIP-seq
MIRT878595	hsa-miR-603	CLIP-seq
MIRT2197234	hsa-miR-608	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT878596	hsa-miR-654-5p	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT878598	hsa-miR-664	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT2197235	hsa-miR-921	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT2197214	hsa-miR-3174	CLIP-seq
MIRT2197216	hsa-miR-34b	CLIP-seq
MIRT2197218	hsa-miR-3656	CLIP-seq
MIRT2197221	hsa-miR-4468	CLIP-seq
MIRT2197223	hsa-miR-4646-5p	CLIP-seq
MIRT2197227	hsa-miR-4714-3p	CLIP-seq
MIRT2197228	hsa-miR-4718	CLIP-seq
MIRT2197231	hsa-miR-4747-5p	CLIP-seq
MIRT2197232	hsa-miR-490-3p	CLIP-seq
MIRT2197235	hsa-miR-921	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT1960438	hsa-miR-139-3p	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq
MIRT878529	hsa-miR-10a	CLIP-seq
MIRT878530	hsa-miR-10b	CLIP-seq
MIRT1960436	hsa-miR-1285	CLIP-seq
MIRT2677864	hsa-miR-2116	CLIP-seq
MIRT1960440	hsa-miR-25	CLIP-seq
MIRT1960444	hsa-miR-3187-5p	CLIP-seq
MIRT1960446	hsa-miR-32	CLIP-seq
MIRT1960449	hsa-miR-363	CLIP-seq
MIRT1960450	hsa-miR-367	CLIP-seq
MIRT2446658	hsa-miR-3926	CLIP-seq
MIRT1960453	hsa-miR-4325	CLIP-seq
MIRT2677865	hsa-miR-495	CLIP-seq
MIRT1960461	hsa-miR-508-5p	CLIP-seq
MIRT2446659	hsa-miR-548s	CLIP-seq
MIRT2677866	hsa-miR-561	CLIP-seq
MIRT878594	hsa-miR-593	CLIP-seq
MIRT1960463	hsa-miR-612	CLIP-seq
MIRT1960464	hsa-miR-661	CLIP-seq
MIRT1960465	hsa-miR-766	CLIP-seq
MIRT1960466	hsa-miR-92a	CLIP-seq
MIRT1960467	hsa-miR-92b	CLIP-seq

Transcription factors

Transcription factor	Regulation	Reference
AR	Activation	24583551
AR	Unknown	18541154
ARID3A	Unknown	23659165
E2F1	Unknown	18541154
E2F3	Unknown	18541154
FOXM1	Activation	24583551
GATA1	Activation	22871742
MSC	Repression	15213307

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000076	Process	DNA replication checkpoint signaling	TAS	9566895
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	9566895
GO:0000166	Function	Nucleotide binding	IEA
GO:0000166	Function	Nucleotide binding	TAS	8990175
GO:0000922	Component	Spindle pole	IDA	21041660
GO:0003682	Function	Chromatin binding	IEA
GO:0003688	Function	DNA replication origin binding	IBA
GO:0005515	Function	Protein binding	IPI	14672932, 15232106, 18320024, 19150984, 21041660, 25241761, 25557911, 25990725
GO:0005524	Function	ATP binding	IEA
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	21041660, 21383955
GO:0005634	Component	Nucleus	IEA
GO:0005634	Component	Nucleus	TAS	9566895
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0005730	Component	Nucleolus	IDA	21383955
GO:0005737	Component	Cytoplasm	IEA
GO:0005737	Component	Cytoplasm	TAS	9566895
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	IDA
GO:0005829	Component	Cytosol	TAS
GO:0006260	Process	DNA replication	IEA
GO:0006270	Process	DNA replication initiation	IBA
GO:0006270	Process	DNA replication initiation	IEA
GO:0007089	Process	Traversing start control point of mitotic cell cycle	TAS	9566895
GO:0008156	Process	Negative regulation of DNA replication	TAS	9566895
GO:0008285	Process	Negative regulation of cell population proliferation	TAS	9566895
GO:0030071	Process	Regulation of mitotic metaphase/anaphase transition	IMP	21041660
GO:0032467	Process	Positive regulation of cytokinesis	IMP	21041660
GO:0033314	Process	Mitotic DNA replication checkpoint signaling	IBA
GO:0045171	Component	Intercellular bridge	IDA
GO:0048146	Process	Positive regulation of fibroblast proliferation	IEA
GO:0051233	Component	Spindle midzone	IDA	21041660
GO:0051301	Process	Cell division	IEA
GO:0051984	Process	Positive regulation of chromosome segregation	IDA	21041660
GO:0072686	Component	Mitotic spindle	IDA
GO:0120283	Function	Protein serine/threonine kinase binding	IPI	21041660
GO:1904117	Process	Cellular response to vasopressin	IEA
GO:1904385	Process	Cellular response to angiotensin	IEA

Other IDs

• MIM: 602627
• HGNC: 1744
• e!Ensembl: ENSG00000094804

Protein

• UniProt ID: Q99741
• Protein name: Cell division control protein 6 homolog (CDC6-related protein) (Cdc18-related protein) (HsCdc18) (p62(cdc6)) (HsCDC6)
• Protein function: Involved in the initiation of DNA replication. Also participates in checkpoint controls that ensure DNA replication is completed before mitosis is initiated.
• PDB: 2CCH, 2CCI, 4I5L, 4I5N, 8HT7, 8RWV, 8S0E
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF13401	AAA_22	188 → 323	AAA domain	Domain
  PF17872	AAA_lid_10	352 → 411	AAA lid domain	Domain
  PF09079	Cdc6_C	465 → 544	CDC6, C terminal winged helix domain	Domain

• Sequence:

  MPQTRSQAQATISFPKRKLSRALNKAKNSSDAKLEPTNVQTVTCSPRVKALPLSPRKRLG
  DDNLCNTPHLPPCSPPKQGKKENGPPHSHTLKGRRLVFDNQLTIKSPSKRELAKVHQNKI
  LSSVRKSQEITTNSEQRCPLKKESACVRLFKQEGTCYQQAKLVLNTAVPDRLPAREREMD
  VIRNFLREHICGKKAGSLYLSGAPGTGKTACLSRILQDLKKELKGFKTIMLNCMSLRTAQ
  AVFPAIAQEICQEEVSRPAGKDMMRKLEKHMTAEKGPMIVLVLDEMDQLDSKGQDVLYTL
  FEWPWLSNSHLVLIGIANTLDLTDRILPRLQAREKCKPQLLNFPPYTRNQIVTILQDRLN
  QVSRDQVLDNAAVQFCARKVSAVSGDVRKALDVCRRAIEIVESDVKSQTILKPLSECKSP
  SEPLIPKRVGLIHISQVISEVDGNRMTLSQEGAQDSFPLQQKILVCSLMLLIRQLKIKEV
  TLGKLYEAYSKVCRKQQVAAVDQSECLSLSGLLEARGILGLKRNKETRLTKVFFKIEEKE
  IEHALKDKALIGNILATGLP

• Sequence length: 560

Pathways

KEGG:

Cell cycle
Chemical carcinogenesis - receptor activation

Reactome:

Transcription of E2F targets under negative control by DREAM complex
Activation of ATR in response to replication stress
CDC6 association with the ORC:origin complex
CDT1 association with the CDC6:ORC:origin complex
Assembly of the pre-replicative complex
Orc1 removal from chromatin
Activation of the pre-replicative complex
CDK-mediated phosphorylation and removal of Cdc6
G1/S-Specific Transcription

Associated diseases

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)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CDC6-related disorder	Likely benign; Conflicting classifications of pathogenicity	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colon adenocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR-PATELLA-SHORT STATURE SYNDROME	—	Orphanet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Meier-Gorlin syndrome	Uncertain significance; Conflicting classifications of pathogenicity	ClinVar CTD, GWAS catalog CTD, GWAS catalog	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Meier-Gorlin syndrome 5	Benign; Likely benign; Conflicting classifications of pathogenicity; Uncertain significance; no classifications from unflagged records	ClinVar ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO ClinGen, ClinVar, Disgenet, GWAS catalog, HPO	★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
POLYCYSTIC OVARY SYNDROME	—	CTD, Disgenet CTD, Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenocarcinoma	Adenocarcinoma	BEFREE	23011157		★☆☆☆☆ Found in Text Mining only
ANOPHTHALMIA AND PULMONARY HYPOPLASIA	Syndromic microphthalmia	BEFREE	31672935		★☆☆☆☆ Found in Text Mining only
Anophthalmia with pulmonary hypoplasia	Anophthalmia	Pubtator	39376555	Associate	★☆☆☆☆ Found in Text Mining only
Arthritis Rheumatoid	Rheumatoid arthritis	Pubtator	31173250	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	26317630	Associate	★☆☆☆☆ Found in Text Mining only
Azoospermia	Azoospermia	Pubtator	34738918	Associate	★☆☆☆☆ Found in Text Mining only
Benign Prostatic Hyperplasia	Benign Prostatic Hyperplasia	BEFREE	30450027		★☆☆☆☆ Found in Text Mining only
Bladder Neoplasm	Bladder Neoplasm	BEFREE	31239709		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	21249314, 28428557		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	18332872, 20079629, 21607584, 23159852, 36997866	Associate	★☆☆☆☆ Found in Text Mining only
Breast Neoplasms Male	Male breast neoplasms	Pubtator	22527098	Associate	★☆☆☆☆ Found in Text Mining only
Carcinogenesis	Carcinogenesis	Pubtator	20606534, 22523071, 23011157, 24774443, 25100863, 29321003, 39766782	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma	Carcinoma	BEFREE	16572177, 19189662		★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	33173413, 34961841, 37861550, 39596041, 39874008	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma of bladder	Bladder carcinoma	BEFREE	31239709		★☆☆☆☆ Found in Text Mining only
Carcinoma of lung	Lung carcinoma	BEFREE	25100863, 27861149		★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	38423594	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	27144525	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	12296751, 15858126	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Squamous Cell	Squamous cell carcinoma	Pubtator	15696126	Stimulate	★☆☆☆☆ Found in Text Mining only
Carcinoma, Ovarian Epithelial	Ovarian Epithelial carcinoma	BEFREE	27035425		★☆☆☆☆ Found in Text Mining only
Castleman Disease	Castleman disease	Pubtator	37833632	Associate	★☆☆☆☆ Found in Text Mining only
cervical cancer	Cervical Cancer	BEFREE	20606534		★☆☆☆☆ Found in Text Mining only
Cervical Intraepithelial Neoplasia	Cervical Intraepithelial Neoplasia	BEFREE	15696126		★☆☆☆☆ Found in Text Mining only
Cervix carcinoma	Cervix carcinoma	BEFREE	20606534		★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	GENOMICS_ENGLAND_DG	22333897		★☆☆☆☆ Found in Text Mining only
Chronic Obstructive Airway Disease	Chronic Obstructive Pulmonary Disease	BEFREE	19233139		★☆☆☆☆ Found in Text Mining only
Clinodactyly	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of fingers	Clinodactyly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clinodactyly of the 5th finger	Camptodactyly of fingers	HPO_DG			★☆☆☆☆ Found in Text Mining only
Clumsiness - motor delay	Motor delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	31064870, 31173250		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	31173250, 37945594	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	35034031	Stimulate	★☆☆☆☆ Found in Text Mining only
Congenital absence of breast	Breast aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of external ear	Anotia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital absence of mandible	Mandibular aplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of penis	Congenital Hypoplasia Of Penis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	GENOMICS_ENGLAND_DG	9566895		★☆☆☆☆ Found in Text Mining only
Congenital small ears	Microtia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Craniosynostosis	Craniosynostosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	BEFREE	29036220		★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Ear Diseases	Ear disease	Pubtator	23516378	Associate	★☆☆☆☆ Found in Text Mining only
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	CTD_human_DG	21358632		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	ORPHANET_DG	21358632, 23516378		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
EAR, PATELLA, SHORT STATURE SYNDROME	Ear Diseases	BEFREE	23516378, 26637980, 28985365, 29036220		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ear-patella-short stature syndrome	Ear-Patella-Short Stature Syndrome	Orphanet			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Endocrine System Diseases	Endocrine system disease	Pubtator	36997866	Associate	★☆☆☆☆ Found in Text Mining only
Endometrial Neoplasms	Endometrial neoplasm	Pubtator	39684684	Stimulate	★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	BEFREE	25207642		★☆☆☆☆ Found in Text Mining only
Endometriosis	Endometriosis	Pubtator	25207642	Associate	★☆☆☆☆ Found in Text Mining only
Epispadias	Epispadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35639418	Associate	★☆☆☆☆ Found in Text Mining only
Gallbladder Carcinoma	Gallbladder cancer	BEFREE	23011157		★☆☆☆☆ Found in Text Mining only
Gastroesophageal reflux disease	Gastroesophageal Reflux Disease	HPO_DG			★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34018447	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	35879762	Stimulate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
Growth Disorders	Growth disorder	Pubtator	21358632	Associate	★☆☆☆☆ Found in Text Mining only
Hyperplasia	Hyperplasia	Pubtator	23011157	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophy of clitoris	Hypertrophy Of Clitoris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the maxilla	Hypoplasia of the maxilla	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypospadias	Hypospadias	HPO_DG			★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	18640135, 19101572, 30546424		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	LHGDN	18640135		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Liver Cirrhosis	Liver cirrhosis	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	25100863, 32249466, 36257938	Associate	★☆☆☆☆ Found in Text Mining only
Lupus Erythematosus Systemic	Systemic lupus erythematosus	Pubtator	36599883, 37426642	Associate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	19189662	Stimulate	★☆☆☆☆ Found in Text Mining only
Lymphatic Metastasis	Lymphatic metastasis	Pubtator	30450027	Associate	★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin	Non-Hodgkin lymphoma	BEFREE	19101572		★☆☆☆☆ Found in Text Mining only
Lymphoma, Non-Hodgkin, Familial	Lymphoma	BEFREE	19101572		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	21249314, 28428557		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of lung	Lung Cancer	BEFREE	25100863, 27861149		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of ovary	Ovarian cancer	BEFREE	27035425		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	12006585, 16956712, 19107233, 19520769, 22067725, 24583551, 28228262, 30450027		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31419217		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of urinary bladder	Urinary bladder cancer	BEFREE	31239709		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	18640135, 19101572, 21676433, 24302590, 25100863, 25187488, 30158672		★☆☆☆☆ Found in Text Mining only
Malignant tumor of cervix	Cervical Tumor	BEFREE	20606534		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	BEFREE	21249314		★☆☆☆☆ Found in Text Mining only
Mantle cell lymphoma	Mantle Cell Lymphoma	BEFREE	17036332		★☆☆☆☆ Found in Text Mining only
MEIER-GORLIN SYNDROME 5	Meier-Gorlin Syndrome	GENOMICS_ENGLAND_DG	11477602, 21358632, 22333897, 9566895		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
MEIER-GORLIN SYNDROME 5	Meier-Gorlin Syndrome	UNIPROT_DG	21358632		★★★☆☆ Reported in Unknown/Other Associations (≥2 sources)
melanoma	Melanoma	BEFREE	27974665		★☆☆☆☆ Found in Text Mining only
Mesothelioma Malignant	Mesothelioma	Pubtator	19218339	Stimulate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	23516378, 28985365		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microstomia	Microstomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
MUNGAN SYNDROME	MUNGAN SYNDROME	BEFREE	22333897, 26381604, 27374770, 28985365		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal carcinoma	Nasopharyngeal Carcinoma	BEFREE	27350400		★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	27350400	Associate	★☆☆☆☆ Found in Text Mining only
Necrosis	Necrosis	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	18541154, 23011157, 27861149, 29321003, 30450027, 31100539, 31157164, 31419217		★☆☆☆☆ Found in Text Mining only
Neuroblastoma	Neuroblastoma	BEFREE	18259842		★☆☆☆☆ Found in Text Mining only
Osteosarcoma	Osteosarcoma	BEFREE	31100539		★☆☆☆☆ Found in Text Mining only
ovarian neoplasm	Ovarian neoplasm	BEFREE	27035425		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	33020506	Associate	★☆☆☆☆ Found in Text Mining only
Penis agenesis	Penis Agenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Pituitary dwarfism 1	Pituitary dwarfism	Pubtator	23516378	Associate	★☆☆☆☆ Found in Text Mining only
Polycystic Ovary Syndrome	Polycystic Ovary Syndrome	CTD_human_DG	21411543		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Polycystic Ovary Syndrome	Polycystic ovary syndrome	Pubtator	39684684	Stimulate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	12006585, 16956712, 19107233, 19520769, 22067725, 24583551, 28228262, 30450027		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	LHGDN	12006585, 15887248		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	12006585	Inhibit	★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	18541154, 19107233, 19520769, 30450027, 37501932	Associate	★☆☆☆☆ Found in Text Mining only
Psoriasis	Psoriasis	BEFREE	30894513		★☆☆☆☆ Found in Text Mining only
Respiratory Failure	Respiratory Failure	HPO_DG			★☆☆☆☆ Found in Text Mining only
Retinoblastoma	Retinoblastoma	Pubtator	37861550	Associate	★☆☆☆☆ Found in Text Mining only
Sclerocystic Ovaries	Sclerocystic Ovaries	CTD_human_DG	21411543		★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG	22333897		★☆☆☆☆ Found in Text Mining only
Skin lesion	Skin Lesion	BEFREE	30894513		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	29845250		★☆☆☆☆ Found in Text Mining only
Small Cell Lung Carcinoma	Small cell lung carcinoma	Pubtator	29845250	Associate	★☆☆☆☆ Found in Text Mining only
Specific learning disability	Specific Learning Disorder	HPO_DG			★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	19189662		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	LHGDN	19189662		★☆☆☆☆ Found in Text Mining only
Squamous Cell Carcinoma of Head and Neck	Squamous cell carcinoma	Pubtator	19189662, 22974333, 35132271	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	19116018, 22974333		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31419217		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	30569111	Associate	★☆☆☆☆ Found in Text Mining only
Submucous cleft of hard palate	Submucosal cleft palate	HPO_DG			★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	27246979	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Dysplasia	Uterine disease	Pubtator	12296751, 15696126, 15858126	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15696126	Stimulate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	15858126, 20606534	Associate	★☆☆☆☆ Found in Text Mining only