CCNK (cyclin K)

Gene

• Entrez ID: 8812
• Gene name: Cyclin K
• Gene symbol: CCNK
• Synonyms: 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:0002944	Component	Cyclin K-CDK12 complex	IPI	22012619
GO:0002945	Component	Cyclin K-CDK13 complex	IPI	22012619
GO:0004693	Function	Cyclin-dependent protein serine/threonine kinase activity	IDA	9632813
GO:0005515	Function	Protein binding	IPI	16189514, 16713569, 25416956, 26748711
GO:0005634	Component	Nucleus	IBA	21873635
GO:0005654	Component	Nucleoplasm	IDA
GO:0005654	Component	Nucleoplasm	TAS
GO:0006357	Process	Regulation of transcription by RNA polymerase II	IBA	21873635
GO:0006366	Process	Transcription by RNA polymerase II	TAS
GO:0006368	Process	Transcription elongation from RNA polymerase II promoter	TAS
GO:0006468	Process	Protein phosphorylation	IEA
GO:0006974	Process	Cellular response to DNA damage stimulus	IMP	22012619
GO:0007049	Process	Cell cycle	IEA
GO:0008024	Component	Cyclin/CDK positive transcription elongation factor complex	IBA	21873635
GO:0008353	Function	RNA polymerase II CTD heptapeptide repeat kinase activity	IDA	9632813
GO:0016538	Function	Cyclin-dependent protein serine/threonine kinase regulator activity	IBA	21873635
GO:0019901	Function	Protein kinase binding	IPI	22012619
GO:0032786	Process	Positive regulation of DNA-templated transcription, elongation	IBA	21873635
GO:0042795	Process	SnRNA transcription by RNA polymerase II	TAS
GO:0044828	Process	Negative regulation by host of viral genome replication	IDA	21555514
GO:0045737	Process	Positive regulation of cyclin-dependent protein serine/threonine kinase activity	IEA
GO:0045944	Process	Positive regulation of transcription by RNA polymerase II	TAS
GO:0051301	Process	Cell division	IEA
GO:0061575	Function	Cyclin-dependent protein serine/threonine kinase activator activity	IBA	21873635
GO:2001165	Process	Positive regulation of phosphorylation of RNA polymerase II C-terminal domain serine 2 residues	IMP	22988298

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

• 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

Causal
Disease name	Disease term	dbSNP ID	References
Developmental delay	Global developmental delay	rs28941770, rs199469464, rs281865469, rs143747297, rs398123009, rs587777428, rs786205133, rs606231459, rs797044854, rs797045027, rs864309504, rs878853160, rs886039902, rs886042046, rs886041291, rs886041382, rs1057518991, rs1057518699, rs753254213, rs748294403, rs762552974, rs1135401795, rs1553121073, rs1553122926, rs1364690005, rs1554086554, rs1554210415, rs1554168326, rs1554776342, rs1553873247, rs1567860112, rs779009256, rs1557447255, rs1564568350, rs780011005, rs1597464953, rs1200336864, rs1569513017, rs1587459606, rs1570332505, rs748888652, rs1575155995, rs2087029320, rs1589669105, rs1601769604, rs1184981709, rs749201074
Intellectual developmental disorder with hypertelorism and distinctive facies	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPERTELORISM AND DISTINCTIVE FACIES	rs1566748800	30122539
Macrocephaly	Macrocephaly	rs786204854, rs764333096, rs1557739557

Unknown
Disease name	Disease term	dbSNP ID	References
Posteriorly rotated ear	Posteriorly rotated ear