CENPF (centromere protein F)

Gene

• Entrez ID: 1063
• Gene name: Centromere protein F
• Gene symbol: CENPF
• Synonyms (NCBI Gene): CENF, CILD31, PRO1779, STROMS, hcp-1
• Chromosome: 1
• Chromosome location: 1q41
• Summary: This gene encodes a protein that associates with the centromere-kinetochore complex. The protein is a component of the nuclear matrix during the G2 phase of interphase. In late G2 the protein associates with the kinetochore and maintains this association

SNPs

SNP ID	Visualize variation	Clinical significance	Consequence
rs141352776	G>A,T	Likely-pathogenic	Coding sequence variant, stop gained, missense variant
rs142993088	A>C	Conflicting-interpretations-of-pathogenicity	Coding sequence variant, missense variant
rs144237457	A>G	Conflicting-interpretations-of-pathogenicity, uncertain-significance	Coding sequence variant, missense variant
rs200976140	G>T	Pathogenic	Coding sequence variant, stop gained
rs367624766	G>A,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs376076886	C>T	Pathogenic	Coding sequence variant, stop gained
rs376767238	A>C	Pathogenic	Splice acceptor variant
rs757531591	A>-,AA	Pathogenic	Frameshift variant, coding sequence variant
rs757575602	TGAAAAAACCGAGGGTACAAACCTGAAAA>-	Pathogenic	Frameshift variant, coding sequence variant
rs776697039	GACA>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs779120472	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs779235200	T>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs786205697	C>T	Pathogenic	Coding sequence variant, stop gained
rs869312748	C>G,T	Pathogenic	Missense variant, coding sequence variant, stop gained
rs886041436	->T	Pathogenic	Frameshift variant, intron variant, coding sequence variant
rs1064795215	A>-	Likely-pathogenic	Coding sequence variant, frameshift variant
rs1362606570	C>T	Likely-pathogenic	Stop gained, coding sequence variant
rs1553288555	A>-	Likely-pathogenic	Coding sequence variant, stop gained
rs1553290222	TG>-	Likely-pathogenic	Frameshift variant, coding sequence variant
rs1571706279	G>T	Likely-pathogenic	Coding sequence variant, stop gained
rs1571707321	A>G	Likely-pathogenic	Splice acceptor variant

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT002525	hsa-miR-373-3p	Microarray	15685193
MIRT019840	hsa-miR-375	Microarray	20215506
MIRT002525	hsa-miR-373-3p	Microarray;Other	15685193
MIRT023287	hsa-miR-122-5p	Proteomics	21750653
MIRT023780	hsa-miR-1-3p	Proteomics	18668040
MIRT024521	hsa-miR-215-5p	Microarray	19074876
MIRT026480	hsa-miR-192-5p	Microarray	19074876
MIRT031672	hsa-miR-16-5p	Proteomics	18668040
MIRT038774	hsa-miR-93-3p	CLASH	23622248
MIRT037353	hsa-miR-877-5p	CLASH	23622248
MIRT036512	hsa-miR-1226-3p	CLASH	23622248
MIRT732309	hsa-miR-148a-5p	Luciferase reporter assay, Western blot	27292025
MIRT732309	hsa-miR-148a-5p	Luciferase reporter assay, Western blot	27292025
MIRT884843	hsa-miR-1184	CLIP-seq
MIRT884844	hsa-miR-1226	CLIP-seq
MIRT884845	hsa-miR-125a-3p	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT884848	hsa-miR-146b-3p	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT884853	hsa-miR-194	CLIP-seq
MIRT884854	hsa-miR-2053	CLIP-seq
MIRT884855	hsa-miR-208a	CLIP-seq
MIRT884856	hsa-miR-208b	CLIP-seq
MIRT884857	hsa-miR-2115	CLIP-seq
MIRT884858	hsa-miR-219-2-3p	CLIP-seq
MIRT884859	hsa-miR-3125	CLIP-seq
MIRT884860	hsa-miR-3173-5p	CLIP-seq
MIRT884861	hsa-miR-338-5p	CLIP-seq
MIRT884862	hsa-miR-3658	CLIP-seq
MIRT884863	hsa-miR-376c	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT884865	hsa-miR-3916	CLIP-seq
MIRT884866	hsa-miR-4263	CLIP-seq
MIRT884867	hsa-miR-4272	CLIP-seq
MIRT884868	hsa-miR-4279	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT884870	hsa-miR-4422	CLIP-seq
MIRT884871	hsa-miR-4432	CLIP-seq
MIRT884872	hsa-miR-4473	CLIP-seq
MIRT884873	hsa-miR-4476	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884875	hsa-miR-4521	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884879	hsa-miR-4687-5p	CLIP-seq
MIRT884880	hsa-miR-4699-3p	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884883	hsa-miR-4732-3p	CLIP-seq
MIRT884884	hsa-miR-4733-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT884888	hsa-miR-4803	CLIP-seq
MIRT884889	hsa-miR-483-3p	CLIP-seq
MIRT884890	hsa-miR-499-5p	CLIP-seq
MIRT884891	hsa-miR-508-3p	CLIP-seq
MIRT884892	hsa-miR-512-3p	CLIP-seq
MIRT884893	hsa-miR-516a-3p	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT884897	hsa-miR-552	CLIP-seq
MIRT884898	hsa-miR-556-3p	CLIP-seq
MIRT884899	hsa-miR-569	CLIP-seq
MIRT884900	hsa-miR-577	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884902	hsa-miR-596	CLIP-seq
MIRT884903	hsa-miR-616	CLIP-seq
MIRT884904	hsa-miR-636	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT884906	hsa-miR-671-5p	CLIP-seq
MIRT884907	hsa-miR-874	CLIP-seq
MIRT884908	hsa-miR-875-3p	CLIP-seq
MIRT884909	hsa-miR-877	CLIP-seq
MIRT884910	hsa-miR-936	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962447	hsa-miR-205	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT884858	hsa-miR-219-2-3p	CLIP-seq
MIRT1962450	hsa-miR-3140-3p	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT1962454	hsa-miR-579	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884846	hsa-miR-1276	CLIP-seq
MIRT884847	hsa-miR-1305	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT884857	hsa-miR-2115	CLIP-seq
MIRT2198832	hsa-miR-3622a-5p	CLIP-seq
MIRT2198833	hsa-miR-3689a-5p	CLIP-seq
MIRT2198834	hsa-miR-3689b	CLIP-seq
MIRT2198835	hsa-miR-3689e	CLIP-seq
MIRT2198836	hsa-miR-3689f	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT884869	hsa-miR-4311	CLIP-seq
MIRT2198837	hsa-miR-4423-3p	CLIP-seq
MIRT884872	hsa-miR-4473	CLIP-seq
MIRT884874	hsa-miR-4509	CLIP-seq
MIRT884876	hsa-miR-4643	CLIP-seq
MIRT884877	hsa-miR-466	CLIP-seq
MIRT884878	hsa-miR-4683	CLIP-seq
MIRT884881	hsa-miR-4717-3p	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT884885	hsa-miR-4744	CLIP-seq
MIRT2198838	hsa-miR-4756-3p	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT2198839	hsa-miR-486-5p	CLIP-seq
MIRT884892	hsa-miR-512-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT884893	hsa-miR-516a-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT884897	hsa-miR-552	CLIP-seq
MIRT884901	hsa-miR-583	CLIP-seq
MIRT884904	hsa-miR-636	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq
MIRT1962444	hsa-miR-106a	CLIP-seq
MIRT1962445	hsa-miR-106b	CLIP-seq
MIRT884849	hsa-miR-148a	CLIP-seq
MIRT884850	hsa-miR-148b	CLIP-seq
MIRT884851	hsa-miR-152	CLIP-seq
MIRT1962446	hsa-miR-17	CLIP-seq
MIRT884852	hsa-miR-1915	CLIP-seq
MIRT1962448	hsa-miR-20a	CLIP-seq
MIRT1962449	hsa-miR-20b	CLIP-seq
MIRT2385933	hsa-miR-3591-5p	CLIP-seq
MIRT2198833	hsa-miR-3689a-5p	CLIP-seq
MIRT2198834	hsa-miR-3689b	CLIP-seq
MIRT2198835	hsa-miR-3689e	CLIP-seq
MIRT2198836	hsa-miR-3689f	CLIP-seq
MIRT884864	hsa-miR-383	CLIP-seq
MIRT2385934	hsa-miR-4280	CLIP-seq
MIRT884882	hsa-miR-4726-3p	CLIP-seq
MIRT2198838	hsa-miR-4756-3p	CLIP-seq
MIRT884886	hsa-miR-4772-5p	CLIP-seq
MIRT884887	hsa-miR-4789-3p	CLIP-seq
MIRT1962451	hsa-miR-515-3p	CLIP-seq
MIRT1962452	hsa-miR-519d	CLIP-seq
MIRT1962453	hsa-miR-519e	CLIP-seq
MIRT884894	hsa-miR-520f	CLIP-seq
MIRT884895	hsa-miR-520g	CLIP-seq
MIRT884896	hsa-miR-520h	CLIP-seq
MIRT2385935	hsa-miR-548aa	CLIP-seq
MIRT884905	hsa-miR-642b	CLIP-seq
MIRT1962455	hsa-miR-93	CLIP-seq

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000278	Process	Mitotic cell cycle	IBA
GO:0000278	Process	Mitotic cell cycle	IMP	7542657
GO:0000775	Component	Chromosome, centromeric region	IBA
GO:0000775	Component	Chromosome, centromeric region	IDA	7542657, 7651420, 11084331
GO:0000775	Component	Chromosome, centromeric region	IEA
GO:0000776	Component	Kinetochore	IDA	7542657, 9763420, 17363900
GO:0000776	Component	Kinetochore	IEA
GO:0000785	Component	Chromatin	NAS	9891037
GO:0000922	Component	Spindle pole	IBA
GO:0000922	Component	Spindle pole	IDA	7542657
GO:0000940	Component	Outer kinetochore	IDA	7542657, 7642639, 7904902
GO:0000940	Component	Outer kinetochore	TAS	12974617
GO:0001822	Process	Kidney development	IMP	25564561
GO:0003682	Function	Chromatin binding	NAS	9891037
GO:0005515	Function	Protein binding	IPI	7642639, 7651420, 9763420, 17043677, 17363900, 17600710, 25564561, 31413325
GO:0005634	Component	Nucleus	IBA
GO:0005634	Component	Nucleus	IDA	7542657, 7642639, 7651420, 15494374
GO:0005634	Component	Nucleus	IEA
GO:0005635	Component	Nuclear envelope	IDA	12154071
GO:0005654	Component	Nucleoplasm	IDA
GO:0005694	Component	Chromosome	IEA
GO:0005737	Component	Cytoplasm	IDA	12974617
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IEA
GO:0005819	Component	Spindle	IDA	7651420
GO:0005819	Component	Spindle	IEA
GO:0005829	Component	Cytosol	TAS
GO:0005856	Component	Cytoskeleton	IEA
GO:0005930	Component	Axoneme	IEA
GO:0007059	Process	Chromosome segregation	IMP	16252009
GO:0007059	Process	Chromosome segregation	NAS	7542657
GO:0007094	Process	Mitotic spindle assembly checkpoint signaling	NAS	12974617
GO:0007517	Process	Muscle organ development	IEA
GO:0008017	Function	Microtubule binding	IEA
GO:0009410	Process	Response to xenobiotic stimulus	NAS	12467231
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IBA
GO:0010389	Process	Regulation of G2/M transition of mitotic cell cycle	IMP	7651420, 12154071
GO:0015031	Process	Protein transport	IDA	12974617
GO:0015031	Process	Protein transport	IMP	17600710
GO:0016202	Process	Regulation of striated muscle tissue development	IEA
GO:0016202	Process	Regulation of striated muscle tissue development	ISS	10373470
GO:0016363	Component	Nuclear matrix	IDA	7542657
GO:0016363	Component	Nuclear matrix	IEA
GO:0021591	Process	Ventricular system development	IMP	25564561
GO:0030154	Process	Cell differentiation	IEA
GO:0030496	Component	Midbody	IDA	7651420
GO:0036064	Component	Ciliary basal body	IEA
GO:0042803	Function	Protein homodimerization activity	IEA
GO:0042803	Function	Protein homodimerization activity	IPI	7642639
GO:0045120	Component	Pronucleus	IEA
GO:0045892	Process	Negative regulation of DNA-templated transcription	IDA	15677469
GO:0048471	Component	Perinuclear region of cytoplasm	IEA
GO:0051301	Process	Cell division	IEA
GO:0051310	Process	Metaphase chromosome alignment	IBA
GO:0051310	Process	Metaphase chromosome alignment	IDA	15870278
GO:0051382	Process	Kinetochore assembly	NAS	16252009
GO:0070840	Function	Dynein complex binding	IBA
GO:0070840	Function	Dynein complex binding	IDA	12974617
GO:0070840	Function	Dynein complex binding	IEA
GO:0071897	Process	DNA biosynthetic process	IEA
GO:0097539	Component	Ciliary transition fiber	IEA
GO:0097539	Component	Ciliary transition fiber	IMP	25564561
GO:0140297	Function	DNA-binding transcription factor binding	IPI	15677469

Other IDs

• MIM: 600236
• HGNC: 1857
• e!Ensembl: ENSG00000117724

Protein

• UniProt ID: P49454
• Protein name: Centromere protein F (CENP-F) (AH antigen) (Kinetochore protein CENPF) (Mitosin)
• Protein function: Required for kinetochore function and chromosome segregation in mitosis. Required for kinetochore localization of dynein, LIS1, NDE1 and NDEL1. Regulates recycling of the plasma membrane by acting as a link between recycling vesicles and the mic
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF10481	CENP-F_N	1 → 307	Cenp-F N-terminal domain	Coiled-coil
  PF10473	CENP-F_leu_zip	1893 → 2035	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10473	CENP-F_leu_zip	2131 → 2270	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10473	CENP-F_leu_zip	2313 → 2452	Leucine-rich repeats of kinetochore protein Cenp-F/LEK1	Coiled-coil
  PF10490	CENP-F_C_Rb_bdg	2967 → 3013	Rb-binding domain of kinetochore protein Cenp-F/LEK1	Domain

• Sequence:

  MSWALEEWKEGLPTRALQKIQELEGQLDKLKKEKQQRQFQLDSLEAALQKQKQKVENEKT
  EGTNLKRENQRLMEICESLEKTKQKISHELQVKESQVNFQEGQLNSGKKQIEKLEQELKR
  CKSELERSQQAAQSADVSLNPCNTPQKIFTTPLTPSQYYSGSKYEDLKEKYNKEVEERKR
  LEAEVKALQAKKASQTLPQATMNHRDIARHQASSSVFSWQQEKTPSHLSSNSQRTPIRRD
  FSASYFSGEQEVTPSRSTLQIGKRDANSSFFDNSSSPHLLDQLKAQNQELRNKINELELR
  LQGHEKEMKGQVNKFQELQLQLEKAKVELIEKEKVLNKCRDELVRTTAQYDQASTKYTAL
  EQKLKKLTEDLSCQRQNAESARCSLEQKIKEKEKEFQEELSRQQRSFQTLDQECIQMKAR
  LTQELQQAKNMHNVLQAELDKLTSVKQQLENNLEEFKQKLCRAEQAFQASQIKENELRRS
  MEEMKKENNLLKSHSEQKAREVCHLEAELKNIKQCLNQSQNFAEEMKAKNTSQETMLRDL
  QEKINQQENSLTLEKLKLAVADLEKQRDCSQDLLKKREHHIEQLNDKLSKTEKESKALLS
  ALELKKKEYEELKEEKTLFSCWKSENEKLLTQMESEKENLQSKINHLETCLKTQQIKSHE
  YNERVRTLEMDRENLSVEIRNLHNVLDSKSVEVETQKLAYMELQQKAEFSDQKHQKEIEN
  MCLKTSQLTGQVEDLEHKLQLLSNEIMDKDRCYQDLHAEYESLRDLLKSKDASLVTNEDH
  QRSLLAFDQQPAMHHSFANIIGEQGSMPSERSECRLEADQSPKNSAILQNRVDSLEFSLE
  SQKQMNSDLQKQCEELVQIKGEIEENLMKAEQMHQSFVAETSQRISKLQEDTSAHQNVVA
  ETLSALENKEKELQLLNDKVETEQAEIQELKKSNHLLEDSLKELQLLSETLSLEKKEMSS
  IISLNKREIEELTQENGTLKEINASLNQEKMNLIQKSESFANYIDEREKSISELSDQYKQ
  EKLILLQRCEETGNAYEDLSQKYKAAQEKNSKLECLLNECTSLCENRKNELEQLKEAFAK
  EHQEFLTKLAFAEERNQNLMLELETVQQALRSEMTDNQNNSKSEAGGLKQEIMTLKEEQN
  KMQKEVNDLLQENEQLMKVMKTKHECQNLESEPIRNSVKERESERNQCNFKPQMDLEVKE
  ISLDSYNAQLVQLEAMLRNKELKLQESEKEKECLQHELQTIRGDLETSNLQDMQSQEISG
  LKDCEIDAEEKYISGPHELSTSQNDNAHLQCSLQTTMNKLNELEKICEILQAEKYELVTE
  LNDSRSECITATRKMAEEVGKLLNEVKILNDDSGLLHGELVEDIPGGEFGEQPNEQHPVS
  LAPLDESNSYEHLTLSDKEVQMHFAELQEKFLSLQSEHKILHDQHCQMSSKMSELQTYVD
  SLKAENLVLSTNLRNFQGDLVKEMQLGLEEGLVPSLSSSCVPDSSSLSSLGDSSFYRALL
  EQTGDMSLLSNLEGAVSANQCSVDEVFCSSLQEENLTRKETPSAPAKGVEELESLCEVYR
  QSLEKLEEKMESQGIMKNKEIQELEQLLSSERQELDCLRKQYLSENEQWQQKLTSVTLEM
  ESKLAAEKKQTEQLSLELEVARLQLQGLDLSSRSLLGIDTEDAIQGRNESCDISKEHTSE
  TTERTPKHDVHQICDKDAQQDLNLDIEKITETGAVKPTGECSGEQSPDTNYEPPGEDKTQ
  GSSECISELSFSGPNALVPMDFLGNQEDIHNLQLRVKETSNENLRLLHVIEDRDRKVESL
  LNEMKELDSKLHLQEVQLMTKIEACIELEKIVGELKKENSDLSEKLEYFSCDHQELLQRV
  ETSEGLNSDLEMHADKSSREDIGDNVAKVNDSWKERFLDVENELSRIRSEKASIEHEALY
  LEADLEVVQTEKLCLEKDNENKQKVIVCLEEELSVVTSERNQLRGELDTMSKKTTALDQL
  SEKMKEKTQELESHQSECLHCIQVAEAEVKEKTELLQTLSSDVSELLKDKTHLQEKLQSL
  EKDSQALSLTKCELENQIAQLNKEKELLVKESESLQARLSESDYEKLNVSKALEAALVEK
  GEFALRLSSTQEEVHQLRRGIEKLRVRIEADEKKQLHIAEKLKERERENDSLKDKVENLE
  RELQMSEENQELVILDAENSKAEVETLKTQIEEMARSLKVFELDLVTLRSEKENLTKQIQ
  EKQGQLSELDKLLSSFKSLLEEKEQAEIQIKEESKTAVEMLQNQLKELNEAVAALCGDQE
  IMKATEQSLDPPIEEEHQLRNSIEKLRARLEADEKKQLCVLQQLKESEHHADLLKGRVEN
  LERELEIARTNQEHAALEAENSKGEVETLKAKIEGMTQSLRGLELDVVTIRSEKENLTNE
  LQKEQERISELEIINSSFENILQEKEQEKVQMKEKSSTAMEMLQTQLKELNERVAALHND
  QEACKAKEQNLSSQVECLELEKAQLLQGLDEAKNNYIVLQSSVNGLIQEVEDGKQKLEKK
  DEEISRLKNQIQDQEQLVSKLSQVEGEHQLWKEQNLELRNLTVELEQKIQVLQSKNASLQ
  DTLEVLQSSYKNLENELELTKMDKMSFVEKVNKMTAKETELQREMHEMAQKTAELQEELS
  GEKNRLAGELQLLLEEIKSSKDQLKELTLENSELKKSLDCMHKDQVEKEGKVREEIAEYQ
  LRLHEAEKKHQALLLDTNKQYEVEIQTYREKLTSKEECLSSQKLEIDLLKSSKEELNNSL
  KATTQILEELKKTKMDNLKYVNQLKKENERAQGKMKLLIKSCKQLEEEKEILQKELSQLQ
  AAQEKQKTGTVMDTKVDELTTEIKELKETLEEKTKEADEYLDKYCSLLISHEKLEKAKEM
  LETQVAHLCSQQSKQDSRGSPLLGPVVPGPSPIPSVTEKRLSSGQNKASGKRQRSSGIWE
  NGRGPTPATPESFSKKSKKAVMSGIHPAEDTEGTEFEPEGLPEVVKKGFADIPTGKTSPY
  ILRRTTMATRTSPRLAAQKLALSPLSLGKENLAESSKPTAGGSRSQKVKVAQRSPVDSGT
  ILREPTTKSVPVNNLPERSPTDSPREGLRVKRGRLVPSPKAGLESNGSENCKVQ

• Sequence length: 3114

Pathways

Reactome:

Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal
Polo-like kinase mediated events
Separation of Sister Chromatids
Resolution of Sister Chromatid Cohesion
RHO GTPases Activate Formins
Mitotic Prometaphase
EML4 and NUDC in mitotic spindle formation

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
CENPF-related disorder	Pathogenic	rs376767238	RCV004752769	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Cystinuria	Likely pathogenic	rs1657525413	RCV001310248	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Neurodevelopmental delay	Likely pathogenic; Pathogenic	rs375014198, rs2102419503	RCV002274188 RCV002274442	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Primary ciliary dyskinesia 29	Likely pathogenic	rs2528434640	RCV003447854	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Stromme syndrome	Pathogenic; Likely pathogenic	rs1657782821, rs375014198, rs767901194, rs367624766, rs376767238, rs786205697, rs200976140, rs757575602, rs869312748, rs2528397182, rs886041436, rs376076886, rs375722599, rs1658106325, rs2528401856, rs2102414095, rs1558184644, rs1064795215, rs757531591, rs776697039, rs779120472, rs1571707321	RCV001330720 RCV001330723 RCV005365555 RCV000170523 RCV000170524 RCV000170525 RCV000210064 RCV000210068 RCV000210061 RCV003148386 RCV003989516 RCV004546474 RCV003333655 RCV003447876 RCV004547205 RCV004547260 RCV004547263 RCV003989536 RCV000758080 RCV000761313 RCV000761314 RCV000999512	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
Acute myeloid leukemia	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Adrenocortical carcinoma, hereditary	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARCINOMA, HEPATOCELLULAR	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Clear cell carcinoma of kidney	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Colorectal cancer	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lung cancer	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Likely benign; Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Uncertain significance	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MIGRAINE DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Nonpapillary renal cell carcinoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATIC NEOPLASMS	—	CTD	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Adenoid Cystic Carcinoma	Adenocarcinoma	BEFREE	15927522		★☆☆☆☆ Found in Text Mining only
Adrenocortical Carcinoma	Adrenocortical carcinoma	Pubtator	35123514	Associate	★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★☆☆☆☆ Found in Text Mining only
Aneuploidy	Aneuploidy	Pubtator	17205517	Associate	★☆☆☆☆ Found in Text Mining only
Astrocytoma	Astrocytoma	Pubtator	12937144	Associate	★☆☆☆☆ Found in Text Mining only
Benign Neoplasm	Benign Neoplasm	BEFREE	15927522		★☆☆☆☆ Found in Text Mining only
Bilateral renal hypoplasia	Bilateral renal hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	17205517, 19008095, 31632198		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	12115341, 17205517, 19102762, 20015195, 26868636, 32210727, 35456460, 36096037, 37592220, 39242688	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Carcinogenesis	Carcinogenesis	Pubtator	40659783	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Adenoid Cystic	Adenoid cystic carcinoma	Pubtator	31914060	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Hepatocellular	Hepatocellular carcinoma	Pubtator	26137588, 33157984, 33946043	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	15548371, 29483831	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Renal Cell	Renal cell carcinoma	Pubtator	24763884, 29968393, 34606125, 36793506	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Small Cell	Small cell carcinoma	Pubtator	36379381	Stimulate	★☆☆☆☆ Found in Text Mining only
Cataract	Cataract	HPO_DG			★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	GENOMICS_ENGLAND_DG	25564561		★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25564561, 31488893		★☆☆☆☆ Found in Text Mining only
Colonic Neoplasms	Colonic neoplasm	Pubtator	33428592	Associate	★☆☆☆☆ Found in Text Mining only
Colorectal Carcinoma	Colorectal Cancer	BEFREE	29293549		★☆☆☆☆ Found in Text Mining only
Colorectal Neoplasms	Colorectal neoplasm	Pubtator	38637125	Associate	★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★☆☆☆☆ Found in Text Mining only
Congenital malrotation of intestine	Congenital malrotation of intestine	HPO_DG			★☆☆☆☆ Found in Text Mining only
Developmental Disabilities	Developmental disability	Pubtator	35488810	Associate	★☆☆☆☆ Found in Text Mining only
Duodenal atresia	Duodenal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Esophageal Neoplasms	Esophageal neoplasm	Pubtator	32443386, 35484963	Associate	★☆☆☆☆ Found in Text Mining only
Esophageal Squamous Cell Carcinoma	Esophageal squamous cell carcinoma	Pubtator	35496042	Associate	★☆☆☆☆ Found in Text Mining only
Gastrointestinal Stromal Tumors	Gastrointestinal stromal tumor	Pubtator	14724156	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	12937144	Associate	★☆☆☆☆ Found in Text Mining only
Glioma	Glioma	Pubtator	33892537	Associate	★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hydronephrosis	Hydronephrosis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoplasia of the optic nerve	Hypoplasia Of The Optic Nerve	HPO_DG			★☆☆☆☆ Found in Text Mining only
Hypoxia	Hypoxia	Pubtator	33148251	Associate	★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	BEFREE	31488893		★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Intellectual developmental disorder	Pubtator	35488810	Associate	★☆☆☆☆ Found in Text Mining only
Irido-corneo-trabecular dysgenesis (disorder)	Anterior segment dysgenesis	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jejunal Atresia	Jejunal Atresia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Jejunal Atresia with Microcephaly and Ocular Anomalies	Jejunal Atresia With Microcephaly And Ocular Anomalies	ORPHANET_DG	25564561, 26820108		★☆☆☆☆ Found in Text Mining only
Jejunal Atresia with Microcephaly and Ocular Anomalies	Jejunal Atresia With Microcephaly And Ocular Anomalies	GENOMICS_ENGLAND_DG	25564561, 26820108, 28407396		★☆☆☆☆ Found in Text Mining only
Jejunal Atresia with Microcephaly and Ocular Anomalies	Jejunal Atresia With Microcephaly And Ocular Anomalies	BEFREE	28407396, 31488893		★☆☆☆☆ Found in Text Mining only
Jejunal Atresia with Microcephaly and Ocular Anomalies	Jejunal Atresia With Microcephaly And Ocular Anomalies	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Jejunal Atresia with Microcephaly and Ocular Anomalies	Jejunal Atresia With Microcephaly And Ocular Anomalies	CTD_human_DG			★☆☆☆☆ Found in Text Mining only
Keratoconus	Keratoconus	Pubtator	33729517	Associate	★☆☆☆☆ Found in Text Mining only
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	Lethal Fetal Brain Malformation-Duodenal Atresia-Bilateral Renal Hypoplasia Syndrome	Orphanet			★☆☆☆☆ Found in Text Mining only
Leukemia Myeloid Acute	Myeloid leukemia	Pubtator	35634845	Associate	★☆☆☆☆ Found in Text Mining only
Liposarcoma	Liposarcoma	Pubtator	37108172	Stimulate	★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	BEFREE	26276037, 29328419, 31066149		★☆☆☆☆ Found in Text Mining only
Liver carcinoma	Liver carcinoma	CTD_human_DG	28284560		★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	32831194, 35608130, 36984548	Associate	★☆☆☆☆ Found in Text Mining only
Lung Neoplasms	Lung neoplasms	Pubtator	37986322	Stimulate	★☆☆☆☆ Found in Text Mining only
Macrostomia	Macrostomia	HPO_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	17205517, 19008095, 31632198		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	BEFREE	24823640, 25647485, 26059417, 26387954, 27108958, 29556354, 30519097, 30526248, 30957416, 31090454		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of prostate	Prostate cancer	CTD_human_DG	29581250		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of stomach	Stomach Neoplasms	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	11303627, 15927522, 24823640, 26059417, 30519097, 30526248		★☆☆☆☆ Found in Text Mining only
Mammary Carcinoma, Human	Marfan Syndrome	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	LHGDN	17205517		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Mammary Neoplasms, Human	Mammary Neoplasms	CTD_human_DG	17659439		★☆☆☆☆ Found in Text Mining only
Melanoma	Melanoma	Pubtator	35189004, 7175442	Associate	★☆☆☆☆ Found in Text Mining only
Melanoma Cutaneous Malignant	Melanoma	Pubtator	35189004	Associate	★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	BEFREE	28301542		★☆☆☆☆ Found in Text Mining only
Meningioma	Meningioma	Pubtator	28301542	Associate	★☆☆☆☆ Found in Text Mining only
Microcephaly	Microcephaly	BEFREE	25564561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	GENOMICS_ENGLAND_DG	25564561		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	Pubtator	35488810	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcephaly	Microcephaly	HPO_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Microcornea	Microcornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Micrognathism	Micrognathism	HPO_DG			★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★☆☆☆☆ Found in Text Mining only
Mucoepidermoid Carcinoma	Mucoepidermoid Carcinoma	BEFREE	15927522		★☆☆☆☆ Found in Text Mining only
Myopathy	Myopathy	HPO_DG			★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	20828406	Stimulate	★☆☆☆☆ Found in Text Mining only
Nasopharyngeal Carcinoma	Nasopharyngeal carcinoma	Pubtator	26238040, 35509856	Associate	★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	11303627, 15927522, 24823640, 25647485, 30526248, 31527303, 31632198		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	30639415, 36275722	Associate	★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★☆☆☆☆ Found in Text Mining only
Prostate carcinoma	Prostate cancer	BEFREE	24823640, 25647485, 26059417, 26387954, 27108958, 29556354, 30519097, 30526248, 30957416		★☆☆☆☆ Found in Text Mining only
Prostatic Neoplasms	Prostatic Neoplasms	CTD_human_DG	29581250		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Prostatic Neoplasms	Prostatic neoplasm	Pubtator	30526248, 30957416, 35409038	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sclerocornea	Sclerocornea	HPO_DG			★☆☆☆☆ Found in Text Mining only
Seckel syndrome	Seckel Syndrome	GENOMICS_ENGLAND_DG	25564561		★☆☆☆☆ Found in Text Mining only
Small cell carcinoma of lung	Lung carcinoma	BEFREE	28275243		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma	Carcinoma	BEFREE	11303627		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of esophagus	Esophagus Neoplasm	BEFREE	11092977, 23163484		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	11303627		★☆☆☆☆ Found in Text Mining only
Stomach Carcinoma	Stomach Carcinoma	BEFREE	31527303		★☆☆☆☆ Found in Text Mining only
Stomach Neoplasms	Stomach neoplasms	Pubtator	35346060, 37256823	Associate	★☆☆☆☆ Found in Text Mining only
Stromme syndrome	Stromme Syndrome	Orphanet			★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thyroid Carcinoma Anaplastic	Thyroid cancer	Pubtator	33455115	Associate	★☆☆☆☆ Found in Text Mining only
Triple Negative Breast Neoplasms	Triple negative breast cancer	Pubtator	35627287, 36720923	Associate	★☆☆☆☆ Found in Text Mining only
Urinary Bladder Neoplasms	Urinary bladder neoplasms	Pubtator	40659783	Associate	★☆☆☆☆ Found in Text Mining only
Uterine Cervical Neoplasms	Uterine neoplasm	Pubtator	33023625	Stimulate	★☆☆☆☆ Found in Text Mining only