CCNK (cyclin K)

Gene

• Entrez ID: 8812
• Gene name: Cyclin K
• Gene symbol: CCNK
• Synonyms (NCBI Gene): CPR4, IDDHDF
• Chromosome: 14
• Chromosome location: 14q32.2
• Summary: The protein encoded by this gene is a member of the transcription cyclin family. These cyclins may regulate transcription through their association with and activation of cyclin-dependent kinases (CDK) that phosphorylate the C-terminal domain (CTD) of the

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs1566748800	A>G	Pathogenic	Coding sequence variant, missense variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT032200	hsa-let-7b-5p	Proteomics	18668040
MIRT041776	hsa-miR-484	CLASH	23622248
MIRT038452	hsa-miR-296-3p	CLASH	23622248
MIRT071718	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT071715	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT071713	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT071719	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT071714	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT071723	hsa-miR-4262	PAR-CLIP	21572407
MIRT071717	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT558883	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT558882	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT558881	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT071711	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT071716	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT071725	hsa-miR-4426	PAR-CLIP	21572407
MIRT071726	hsa-miR-4647	PAR-CLIP	21572407
MIRT071727	hsa-miR-4662b	PAR-CLIP	21572407
MIRT071728	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT071722	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT071721	hsa-miR-567	PAR-CLIP	21572407
MIRT071720	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT071713	hsa-miR-181a-5p	HITS-CLIP	22473208
MIRT071714	hsa-miR-181b-5p	HITS-CLIP	22473208
MIRT071715	hsa-miR-181c-5p	HITS-CLIP	22473208
MIRT071719	hsa-miR-181d-5p	HITS-CLIP	22473208
MIRT071711	hsa-miR-27a-3p	HITS-CLIP	22473208
MIRT071716	hsa-miR-27b-3p	HITS-CLIP	22473208
MIRT071718	hsa-miR-377-3p	PAR-CLIP	21572407
MIRT071715	hsa-miR-181c-5p	PAR-CLIP	21572407
MIRT071713	hsa-miR-181a-5p	PAR-CLIP	21572407
MIRT071719	hsa-miR-181d-5p	PAR-CLIP	21572407
MIRT071714	hsa-miR-181b-5p	PAR-CLIP	21572407
MIRT071723	hsa-miR-4262	PAR-CLIP	21572407
MIRT071717	hsa-miR-144-3p	PAR-CLIP	21572407
MIRT558883	hsa-miR-128-3p	PAR-CLIP	21572407
MIRT558882	hsa-miR-216a-3p	PAR-CLIP	21572407
MIRT558881	hsa-miR-3681-3p	PAR-CLIP	21572407
MIRT071711	hsa-miR-27a-3p	PAR-CLIP	21572407
MIRT071716	hsa-miR-27b-3p	PAR-CLIP	21572407
MIRT071725	hsa-miR-4426	PAR-CLIP	21572407
MIRT071726	hsa-miR-4647	PAR-CLIP	21572407
MIRT071727	hsa-miR-4662b	PAR-CLIP	21572407
MIRT071728	hsa-miR-4781-3p	PAR-CLIP	21572407
MIRT071722	hsa-miR-216b-3p	PAR-CLIP	21572407
MIRT071721	hsa-miR-567	PAR-CLIP	21572407
MIRT071720	hsa-miR-513a-5p	PAR-CLIP	21572407
MIRT872516	hsa-miR-10a	CLIP-seq
MIRT872517	hsa-miR-10b	CLIP-seq
MIRT872518	hsa-miR-1224-5p	CLIP-seq
MIRT872519	hsa-miR-1237	CLIP-seq
MIRT872520	hsa-miR-1245b-3p	CLIP-seq
MIRT872521	hsa-miR-1247	CLIP-seq
MIRT872522	hsa-miR-1252	CLIP-seq
MIRT872523	hsa-miR-1261	CLIP-seq
MIRT872524	hsa-miR-1269	CLIP-seq
MIRT872525	hsa-miR-1269b	CLIP-seq
MIRT872526	hsa-miR-1273d	CLIP-seq
MIRT872527	hsa-miR-128	CLIP-seq
MIRT872528	hsa-miR-1294	CLIP-seq
MIRT872529	hsa-miR-135a	CLIP-seq
MIRT872530	hsa-miR-135b	CLIP-seq
MIRT872531	hsa-miR-142-5p	CLIP-seq
MIRT872532	hsa-miR-144	CLIP-seq
MIRT872533	hsa-miR-148a	CLIP-seq
MIRT872534	hsa-miR-148b	CLIP-seq
MIRT872535	hsa-miR-152	CLIP-seq
MIRT872536	hsa-miR-181a	CLIP-seq
MIRT872537	hsa-miR-181b	CLIP-seq
MIRT872538	hsa-miR-181c	CLIP-seq
MIRT872539	hsa-miR-181d	CLIP-seq
MIRT872540	hsa-miR-1825	CLIP-seq
MIRT872541	hsa-miR-185	CLIP-seq
MIRT872542	hsa-miR-1913	CLIP-seq
MIRT872543	hsa-miR-27a	CLIP-seq
MIRT872544	hsa-miR-27b	CLIP-seq
MIRT872545	hsa-miR-300	CLIP-seq
MIRT872546	hsa-miR-3123	CLIP-seq
MIRT872547	hsa-miR-3127-3p	CLIP-seq
MIRT872548	hsa-miR-3130-5p	CLIP-seq
MIRT872549	hsa-miR-3136-5p	CLIP-seq
MIRT872550	hsa-miR-3140-3p	CLIP-seq
MIRT872551	hsa-miR-3148	CLIP-seq
MIRT872552	hsa-miR-3154	CLIP-seq
MIRT872553	hsa-miR-3180-5p	CLIP-seq
MIRT872554	hsa-miR-320a	CLIP-seq
MIRT872555	hsa-miR-320b	CLIP-seq
MIRT872556	hsa-miR-320c	CLIP-seq
MIRT872557	hsa-miR-320d	CLIP-seq
MIRT872558	hsa-miR-320e	CLIP-seq
MIRT872559	hsa-miR-323-3p	CLIP-seq
MIRT872560	hsa-miR-323b-5p	CLIP-seq
MIRT872561	hsa-miR-324-3p	CLIP-seq
MIRT872562	hsa-miR-340	CLIP-seq
MIRT872563	hsa-miR-3622a-5p	CLIP-seq
MIRT872564	hsa-miR-3652	CLIP-seq
MIRT872565	hsa-miR-3664-5p	CLIP-seq
MIRT872566	hsa-miR-3675-3p	CLIP-seq
MIRT872567	hsa-miR-3691-3p	CLIP-seq
MIRT872568	hsa-miR-370	CLIP-seq
MIRT872569	hsa-miR-377	CLIP-seq
MIRT872570	hsa-miR-381	CLIP-seq
MIRT872571	hsa-miR-3909	CLIP-seq
MIRT872572	hsa-miR-3920	CLIP-seq
MIRT872573	hsa-miR-3923	CLIP-seq
MIRT872574	hsa-miR-3942-3p	CLIP-seq
MIRT872575	hsa-miR-4282	CLIP-seq
MIRT872576	hsa-miR-4294	CLIP-seq
MIRT872577	hsa-miR-4306	CLIP-seq
MIRT872578	hsa-miR-4314	CLIP-seq
MIRT872579	hsa-miR-4316	CLIP-seq
MIRT872580	hsa-miR-4423-3p	CLIP-seq
MIRT872581	hsa-miR-4429	CLIP-seq
MIRT872582	hsa-miR-4430	CLIP-seq
MIRT872583	hsa-miR-4439	CLIP-seq
MIRT872584	hsa-miR-4440	CLIP-seq
MIRT872585	hsa-miR-4455	CLIP-seq
MIRT872586	hsa-miR-4461	CLIP-seq
MIRT872587	hsa-miR-4482	CLIP-seq
MIRT872588	hsa-miR-4505	CLIP-seq
MIRT872589	hsa-miR-4513	CLIP-seq
MIRT872590	hsa-miR-4528	CLIP-seq
MIRT872591	hsa-miR-4529-3p	CLIP-seq
MIRT872592	hsa-miR-4644	CLIP-seq
MIRT872593	hsa-miR-4646-3p	CLIP-seq
MIRT872594	hsa-miR-4666-3p	CLIP-seq
MIRT872595	hsa-miR-4700-3p	CLIP-seq
MIRT872596	hsa-miR-4714-5p	CLIP-seq
MIRT872597	hsa-miR-4727-5p	CLIP-seq
MIRT872598	hsa-miR-4749-3p	CLIP-seq
MIRT872599	hsa-miR-4751	CLIP-seq
MIRT872600	hsa-miR-4764-3p	CLIP-seq
MIRT872601	hsa-miR-4766-5p	CLIP-seq
MIRT872602	hsa-miR-4775	CLIP-seq
MIRT872603	hsa-miR-4777-5p	CLIP-seq
MIRT872604	hsa-miR-4789-5p	CLIP-seq
MIRT872605	hsa-miR-517a	CLIP-seq
MIRT872606	hsa-miR-517b	CLIP-seq
MIRT872607	hsa-miR-517c	CLIP-seq
MIRT872608	hsa-miR-518d-5p	CLIP-seq
MIRT872609	hsa-miR-519b-5p	CLIP-seq
MIRT872610	hsa-miR-519c-5p	CLIP-seq
MIRT872611	hsa-miR-520c-5p	CLIP-seq
MIRT872612	hsa-miR-526a	CLIP-seq
MIRT872613	hsa-miR-548a-5p	CLIP-seq
MIRT872614	hsa-miR-548ab	CLIP-seq
MIRT872615	hsa-miR-548ak	CLIP-seq
MIRT872616	hsa-miR-548b-5p	CLIP-seq
MIRT872617	hsa-miR-548c-5p	CLIP-seq
MIRT872618	hsa-miR-548d-5p	CLIP-seq
MIRT872619	hsa-miR-548h	CLIP-seq
MIRT872620	hsa-miR-548i	CLIP-seq
MIRT872621	hsa-miR-548j	CLIP-seq
MIRT872622	hsa-miR-548k	CLIP-seq
MIRT872623	hsa-miR-548l	CLIP-seq
MIRT872624	hsa-miR-548w	CLIP-seq
MIRT872625	hsa-miR-548y	CLIP-seq
MIRT872626	hsa-miR-559	CLIP-seq
MIRT872627	hsa-miR-579	CLIP-seq
MIRT872628	hsa-miR-609	CLIP-seq
MIRT872629	hsa-miR-624	CLIP-seq
MIRT872630	hsa-miR-665	CLIP-seq
MIRT872631	hsa-miR-891b	CLIP-seq
MIRT872520	hsa-miR-1245b-3p	CLIP-seq
MIRT872521	hsa-miR-1247	CLIP-seq
MIRT872522	hsa-miR-1252	CLIP-seq
MIRT872523	hsa-miR-1261	CLIP-seq
MIRT872524	hsa-miR-1269	CLIP-seq
MIRT872525	hsa-miR-1269b	CLIP-seq
MIRT1958886	hsa-miR-1827	CLIP-seq
MIRT1958887	hsa-miR-2276	CLIP-seq
MIRT1958888	hsa-miR-2467-5p	CLIP-seq
MIRT872547	hsa-miR-3127-3p	CLIP-seq
MIRT872549	hsa-miR-3136-5p	CLIP-seq
MIRT872550	hsa-miR-3140-3p	CLIP-seq
MIRT872552	hsa-miR-3154	CLIP-seq
MIRT1958889	hsa-miR-3177-5p	CLIP-seq
MIRT1958890	hsa-miR-3188	CLIP-seq
MIRT872554	hsa-miR-320a	CLIP-seq
MIRT872555	hsa-miR-320b	CLIP-seq
MIRT872556	hsa-miR-320c	CLIP-seq
MIRT872557	hsa-miR-320d	CLIP-seq
MIRT872558	hsa-miR-320e	CLIP-seq
MIRT872560	hsa-miR-323b-5p	CLIP-seq
MIRT872565	hsa-miR-3664-5p	CLIP-seq
MIRT872571	hsa-miR-3909	CLIP-seq
MIRT872574	hsa-miR-3942-3p	CLIP-seq
MIRT1958891	hsa-miR-3975	CLIP-seq
MIRT1958892	hsa-miR-4254	CLIP-seq
MIRT1958893	hsa-miR-4287	CLIP-seq
MIRT1958894	hsa-miR-4292	CLIP-seq
MIRT872576	hsa-miR-4294	CLIP-seq
MIRT1958895	hsa-miR-4308	CLIP-seq
MIRT872581	hsa-miR-4429	CLIP-seq
MIRT872583	hsa-miR-4439	CLIP-seq
MIRT1958896	hsa-miR-4453	CLIP-seq
MIRT872586	hsa-miR-4461	CLIP-seq
MIRT1958897	hsa-miR-4469	CLIP-seq
MIRT1958898	hsa-miR-4494	CLIP-seq
MIRT1958899	hsa-miR-4502	CLIP-seq
MIRT872589	hsa-miR-4513	CLIP-seq
MIRT872591	hsa-miR-4529-3p	CLIP-seq
MIRT1958900	hsa-miR-4538	CLIP-seq
MIRT872593	hsa-miR-4646-3p	CLIP-seq
MIRT1958901	hsa-miR-4672	CLIP-seq
MIRT1958902	hsa-miR-4685-3p	CLIP-seq
MIRT1958903	hsa-miR-4698	CLIP-seq
MIRT1958904	hsa-miR-4708-3p	CLIP-seq
MIRT1958905	hsa-miR-4713-5p	CLIP-seq
MIRT872596	hsa-miR-4714-5p	CLIP-seq
MIRT872600	hsa-miR-4764-3p	CLIP-seq
MIRT872601	hsa-miR-4766-5p	CLIP-seq
MIRT872603	hsa-miR-4777-5p	CLIP-seq
MIRT1958906	hsa-miR-485-5p	CLIP-seq
MIRT1958907	hsa-miR-499a-5p	CLIP-seq
MIRT872608	hsa-miR-518d-5p	CLIP-seq
MIRT872609	hsa-miR-519b-5p	CLIP-seq
MIRT872610	hsa-miR-519c-5p	CLIP-seq
MIRT872611	hsa-miR-520c-5p	CLIP-seq
MIRT872612	hsa-miR-526a	CLIP-seq
MIRT1958908	hsa-miR-549	CLIP-seq
MIRT872627	hsa-miR-579	CLIP-seq
MIRT1958909	hsa-miR-765	CLIP-seq
MIRT872518	hsa-miR-1224-5p	CLIP-seq
MIRT872522	hsa-miR-1252	CLIP-seq
MIRT872526	hsa-miR-1273d	CLIP-seq
MIRT2195816	hsa-miR-1286	CLIP-seq
MIRT872528	hsa-miR-1294	CLIP-seq
MIRT2195817	hsa-miR-1324	CLIP-seq
MIRT872533	hsa-miR-148a	CLIP-seq
MIRT872534	hsa-miR-148b	CLIP-seq
MIRT872535	hsa-miR-152	CLIP-seq
MIRT2195818	hsa-miR-1538	CLIP-seq
MIRT872540	hsa-miR-1825	CLIP-seq
MIRT2195819	hsa-miR-1915	CLIP-seq
MIRT2195820	hsa-miR-217	CLIP-seq
MIRT1958887	hsa-miR-2276	CLIP-seq
MIRT2195821	hsa-miR-30a	CLIP-seq
MIRT2195822	hsa-miR-30b	CLIP-seq
MIRT2195823	hsa-miR-30c	CLIP-seq
MIRT2195824	hsa-miR-30d	CLIP-seq
MIRT2195825	hsa-miR-30e	CLIP-seq
MIRT872547	hsa-miR-3127-3p	CLIP-seq
MIRT872548	hsa-miR-3130-5p	CLIP-seq
MIRT872552	hsa-miR-3154	CLIP-seq
MIRT1958889	hsa-miR-3177-5p	CLIP-seq
MIRT872559	hsa-miR-323-3p	CLIP-seq
MIRT872566	hsa-miR-3675-3p	CLIP-seq
MIRT872567	hsa-miR-3691-3p	CLIP-seq
MIRT872572	hsa-miR-3920	CLIP-seq
MIRT2195826	hsa-miR-4311	CLIP-seq
MIRT872579	hsa-miR-4316	CLIP-seq
MIRT2195827	hsa-miR-4330	CLIP-seq
MIRT2195828	hsa-miR-4418	CLIP-seq
MIRT872584	hsa-miR-4440	CLIP-seq
MIRT872586	hsa-miR-4461	CLIP-seq
MIRT872587	hsa-miR-4482	CLIP-seq
MIRT1958898	hsa-miR-4494	CLIP-seq
MIRT2195829	hsa-miR-4495	CLIP-seq
MIRT1958899	hsa-miR-4502	CLIP-seq
MIRT2195830	hsa-miR-450b-5p	CLIP-seq
MIRT872590	hsa-miR-4528	CLIP-seq
MIRT1958901	hsa-miR-4672	CLIP-seq
MIRT872595	hsa-miR-4700-3p	CLIP-seq
MIRT1958904	hsa-miR-4708-3p	CLIP-seq
MIRT1958905	hsa-miR-4713-5p	CLIP-seq
MIRT872596	hsa-miR-4714-5p	CLIP-seq
MIRT2195831	hsa-miR-4722-5p	CLIP-seq
MIRT2195832	hsa-miR-4726-3p	CLIP-seq
MIRT2195833	hsa-miR-4745-3p	CLIP-seq
MIRT872599	hsa-miR-4751	CLIP-seq
MIRT872600	hsa-miR-4764-3p	CLIP-seq
MIRT2195834	hsa-miR-4772-3p	CLIP-seq
MIRT872602	hsa-miR-4775	CLIP-seq
MIRT872603	hsa-miR-4777-5p	CLIP-seq
MIRT1958907	hsa-miR-499a-5p	CLIP-seq
MIRT2195835	hsa-miR-509-3-5p	CLIP-seq
MIRT2195836	hsa-miR-509-5p	CLIP-seq
MIRT872605	hsa-miR-517a	CLIP-seq
MIRT872606	hsa-miR-517b	CLIP-seq
MIRT872607	hsa-miR-517c	CLIP-seq
MIRT2195837	hsa-miR-518a-5p	CLIP-seq
MIRT872608	hsa-miR-518d-5p	CLIP-seq
MIRT872609	hsa-miR-519b-5p	CLIP-seq
MIRT872610	hsa-miR-519c-5p	CLIP-seq
MIRT872611	hsa-miR-520c-5p	CLIP-seq
MIRT872612	hsa-miR-526a	CLIP-seq
MIRT2195838	hsa-miR-527	CLIP-seq
MIRT872631	hsa-miR-891b	CLIP-seq
MIRT872520	hsa-miR-1245b-3p	CLIP-seq
MIRT872524	hsa-miR-1269	CLIP-seq
MIRT872525	hsa-miR-1269b	CLIP-seq
MIRT872551	hsa-miR-3148	CLIP-seq
MIRT872553	hsa-miR-3180-5p	CLIP-seq
MIRT2498965	hsa-miR-3647-3p	CLIP-seq
MIRT2498966	hsa-miR-3662	CLIP-seq
MIRT872574	hsa-miR-3942-3p	CLIP-seq
MIRT872575	hsa-miR-4282	CLIP-seq
MIRT1958896	hsa-miR-4453	CLIP-seq
MIRT872591	hsa-miR-4529-3p	CLIP-seq
MIRT1958900	hsa-miR-4538	CLIP-seq
MIRT1958908	hsa-miR-549	CLIP-seq
MIRT872630	hsa-miR-665	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000079	Process	Regulation of cyclin-dependent protein serine/threonine kinase activity	TAS	9632813
GO:0000307	Component	Cyclin-dependent protein kinase holoenzyme complex	IEA
GO:0002944	Component	Cyclin K-CDK12 complex	IPI	22012619, 26597175
GO:0002945	Component	Cyclin K-CDK13 complex	IPI	22012619, 26748711
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IDA	9632813
GO:0005515	Function	Protein binding	IPI	16189514, 16713569, 25416956, 26748711, 32296183, 32707033, 32814053, 33961781, 35271311
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IEA
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IEA
GO:0006366	Process	Transcription by RNA polymerase II	IDA	22988298
GO:0006366	Process	Transcription by RNA polymerase II	TAS	9632813
GO:0006974	Process	DNA damage response	IMP	22012619
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IBA
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IDA	9632813
GO:0009966	Process	Regulation of signal transduction	IDA	26748711
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IEA
GO:0019901	Function	Protein kinase binding	IPI	22012619
GO:0032786	Process	Positive regulation of DNA-templated transcription, elongation	IBA
GO:0032968	Process	Positive regulation of transcription elongation by RNA polymerase II	IDA	22988298, 26748711
GO:0044828	Process	Host-mediated suppression of viral genome replication	IDA	21555514
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	IBA
GO:0051301	Process	Cell division	IEA
GO:0051726	Process	Regulation of cell cycle	IEA
GO:0061575	Function	Cyclin-dependent protein serine/threonine kinase activator activity	IBA

Other IDs

• MIM: 603544
• HGNC: 1596
• e!Ensembl: ENSG00000090061

Protein

• UniProt ID: O75909
• Protein name: Cyclin-K
• Protein function: Regulatory subunit of cyclin-dependent kinases that mediates activation of target kinases. Plays a role in transcriptional regulation via its role in regulating the phosphorylation of the C-terminal domain (CTD) of the large subunit of RNA polym
• PDB: 2I53, 4CXA, 4NST, 4UN0, 5ACB, 5EFQ, 6B3E, 6CKX, 6TD3, 7NXJ, 7NXK, 8BU1, 8BU2, 8BU3, 8BU4, 8BU5, 8BU6, 8BU7, 8BU9, 8BUA, 8BUB, 8BUC, 8BUD, 8BUE, 8BUF, 8BUG, 8BUH, 8BUI, 8BUJ, 8BUK, 8BUL, 8BUM, 8BUN, 8BUO, 8BUP, 8BUQ, 8BUR, 8BUS, 8BUT, 8P81, 9FMR
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF00134	Cyclin_N	23 → 156	Cyclin, N-terminal domain	Domain
  PF02984	Cyclin_C	159 → 291	Cyclin, C-terminal domain	Domain

• Tissue specificity: TISSUE SPECIFICITY: Widely expressed. Highest levels in testis. {ECO:0000269|PubMed:9632813}.
• Sequence:

  MKENKENSSPSVTSANLDHTKPCWYWDKKDLAHTPSQLEGLDPATEARYRREGARFIFDV
  GTRLGLHYDTLATGIIYFHRFYMFHSFKQFPRYVTGACCLFLAGKVEETPKKCKDIIKTA
  RSLLNDVQFGQFGDDPKEEVMVLERILLQTIKFDLQVEHPYQFLLKYAKQLKGDKNKIQK
  LVQMAWTFVNDSLCTTLSLQWEPEIIAVAVMYLAGRLCKFEIQEWTSKPMYRRWWEQFVQ
  DVPVDVLEDICHQILDLYSQGKQQMPHHTPHQLQQPPSLQPTPQVPQVQQSQPSQSSEPS
  QPQQKDPQQPAQQQQPAQQPKKPSPQPSSPRQVKRAVVVSPKEENKAAEPPPPKIPKIET
  THPPLPPAHPPPDRKPPLAAALGEAEPPGPVDATDLPKVQIPPPAHPAPVHQPPPLPHRP
  PPPPPSSYMTGMSTTSSYMSGEGYQSLQSMMKTEGPSYGALPPAYGPPAHLPYHPHVYPP
  NPPPPPVPPPPASFPPPAIPPPTPGYPPPPPTYNPNFPPPPPRLPPTHAVPPHPPPGLGL
  PPASYPPPAVPPGGQPPVPPPIPPPGMPPVGGLGRAAWMR

• Sequence length: 580

Pathways

Reactome:

Formation of RNA Pol II elongation complex
SMAD2/SMAD3:SMAD4 heterotrimer regulates transcription
RNA Polymerase II Pre-transcription Events
TP53 Regulates Transcription of DNA Repair Genes
RNA polymerase II transcribes snRNA genes
RNA Polymerase II Transcription Elongation

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)

Causal
Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Intellectual developmental disorder with hypertelorism and distinctive facies	Pathogenic	rs1566748800	RCV000710289	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
CCNK-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Ataxia Telangiectasia	Ataxia telangiectasia	Pubtator	20930849	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	34289372	Associate	★☆☆☆☆ Found in Text Mining only
Congenital anomaly of face	Facial dysmorphism	BEFREE	30122539		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	11988847	Associate	★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★☆☆☆☆ Found in Text Mining only
INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES	Intellectual Developmental Disorder With Hypertelorism And Distinctive Facies	UNIPROT_DG	30122539		★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Leukemia	Leukemia	Pubtator	37535603	Associate	★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	24441149	Associate	★☆☆☆☆ Found in Text Mining only
Macrocephaly	Macrocephaly	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	28670704		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of testis	Malignant Neoplasm Of Testis	BEFREE	25004108		★☆☆☆☆ Found in Text Mining only
Neurodevelopmental Disorders	Neurodevelopmental Disorders	BEFREE	30122539		★☆☆☆☆ Found in Text Mining only
Posteriorly rotated ear	Posteriorly Rotated Ear	HPO_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	28670704		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	36129942	Associate	★☆☆☆☆ Found in Text Mining only
Sarcoma Kaposi	Sarcoma	Pubtator	12531804	Associate	★☆☆☆☆ Found in Text Mining only