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

Gene Gene information from NCBI Gene database. Gene SNPs miRNA Gene ontology Other IDs Protein Associated diseases
Entrez ID	153241
Gene name	Centrosomal protein 120
Gene symbol	CEP120
Synonyms (NCBI Gene)	CCDC100JBTS31SRTD13
Chromosome	5
Chromosome location	5q23.2
Summary	This gene encodes a protein that functions in the microtubule-dependent coupling of the nucleus and the centrosome. A similar protein in mouse plays a role in both interkinetic nuclear migration, which is a characteristic pattern of nuclear movement in ne

Show/Hide all (11)

SNP ID	Visualize variation	Clinical significance	Consequence
rs114280473	G>A	Pathogenic, benign	Coding sequence variant, non coding transcript variant, missense variant
rs367600930	C>G	Pathogenic	Missense variant, coding sequence variant, non coding transcript variant, 5 prime UTR variant
rs757499322	G>A,C	Pathogenic	Missense variant, 5 prime UTR variant, non coding transcript variant, coding sequence variant, stop gained
rs759125480	G>A	Likely-pathogenic	Stop gained, non coding transcript variant, coding sequence variant
rs775080726	G>A,C	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1131691279	A>G	Likely-pathogenic	5 prime UTR variant, missense variant, coding sequence variant, non coding transcript variant
rs1131691280	C>A,G	Likely-pathogenic	Splice donor variant
rs1554098663	A>C	Pathogenic	Coding sequence variant, 3 prime UTR variant, non coding transcript variant, missense variant
rs1554102026	A>G	Pathogenic	Coding sequence variant, non coding transcript variant, missense variant
rs1554103267	->T	Pathogenic	Coding sequence variant, 5 prime UTR variant, frameshift variant, non coding transcript variant, intron variant
rs1554104276	A>G	Pathogenic	Coding sequence variant, 5 prime UTR variant, non coding transcript variant, missense variant

253

Show/Hide all (253)

miRTarBase ID	miRNA	Experiments	Reference
MIRT026036	hsa-miR-196a-5p	Sequencing	20371350
MIRT032139	hsa-let-7d-5p	Sequencing	20371350
MIRT050547	hsa-miR-20a-5p	CLASH	23622248
MIRT494306	hsa-miR-548aa	PAR-CLIP	23592263
MIRT494305	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT494304	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT494303	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT494302	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT494301	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT494300	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT494299	hsa-miR-548ab	PAR-CLIP	23592263
MIRT494298	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT494297	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT494296	hsa-miR-548ak	PAR-CLIP	23592263
MIRT494295	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT494294	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT494293	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT494292	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT494291	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT494290	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT494289	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT494288	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT494287	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT494286	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT494285	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT494284	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT494283	hsa-miR-548i	PAR-CLIP	23592263
MIRT494282	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT494281	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT494280	hsa-miR-548w	PAR-CLIP	23592263
MIRT494279	hsa-miR-548y	PAR-CLIP	23592263
MIRT494278	hsa-miR-559	PAR-CLIP	23592263
MIRT494277	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT494276	hsa-miR-548k	PAR-CLIP	23592263
MIRT494275	hsa-miR-8054	PAR-CLIP	23592263
MIRT494274	hsa-miR-548l	PAR-CLIP	23592263
MIRT494273	hsa-miR-5692a	PAR-CLIP	23592263
MIRT494272	hsa-miR-3156-5p	PAR-CLIP	23592263
MIRT494271	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494270	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494269	hsa-miR-4302	PAR-CLIP	23592263
MIRT494268	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT494267	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT494266	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT494265	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT494264	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT032139	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT494263	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT494262	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT494261	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT494260	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT494258	hsa-miR-4458	PAR-CLIP	23592263
MIRT494259	hsa-miR-4500	PAR-CLIP	23592263
MIRT494257	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT494255	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT494256	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494254	hsa-miR-8085	PAR-CLIP	23592263
MIRT494253	hsa-miR-4648	PAR-CLIP	23592263
MIRT494252	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT494251	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT494250	hsa-miR-4654	PAR-CLIP	23592263
MIRT494249	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT494248	hsa-miR-3671	PAR-CLIP	23592263
MIRT494247	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT494246	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT494245	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT494306	hsa-miR-548aa	PAR-CLIP	23592263
MIRT494305	hsa-miR-548ap-3p	PAR-CLIP	23592263
MIRT494304	hsa-miR-548t-3p	PAR-CLIP	23592263
MIRT494303	hsa-miR-548as-3p	PAR-CLIP	23592263
MIRT494302	hsa-miR-548at-3p	PAR-CLIP	23592263
MIRT494301	hsa-miR-548ay-3p	PAR-CLIP	23592263
MIRT494300	hsa-miR-548a-5p	PAR-CLIP	23592263
MIRT494299	hsa-miR-548ab	PAR-CLIP	23592263
MIRT494298	hsa-miR-548ad-5p	PAR-CLIP	23592263
MIRT494297	hsa-miR-548ae-5p	PAR-CLIP	23592263
MIRT494296	hsa-miR-548ak	PAR-CLIP	23592263
MIRT494295	hsa-miR-548am-5p	PAR-CLIP	23592263
MIRT494294	hsa-miR-548ap-5p	PAR-CLIP	23592263
MIRT494293	hsa-miR-548aq-5p	PAR-CLIP	23592263
MIRT494292	hsa-miR-548ar-5p	PAR-CLIP	23592263
MIRT494291	hsa-miR-548as-5p	PAR-CLIP	23592263
MIRT494290	hsa-miR-548au-5p	PAR-CLIP	23592263
MIRT494289	hsa-miR-548ay-5p	PAR-CLIP	23592263
MIRT494288	hsa-miR-548b-5p	PAR-CLIP	23592263
MIRT494287	hsa-miR-548bb-5p	PAR-CLIP	23592263
MIRT494286	hsa-miR-548c-5p	PAR-CLIP	23592263
MIRT494285	hsa-miR-548d-5p	PAR-CLIP	23592263
MIRT494284	hsa-miR-548h-5p	PAR-CLIP	23592263
MIRT494283	hsa-miR-548i	PAR-CLIP	23592263
MIRT494282	hsa-miR-548j-5p	PAR-CLIP	23592263
MIRT494281	hsa-miR-548o-5p	PAR-CLIP	23592263
MIRT494280	hsa-miR-548w	PAR-CLIP	23592263
MIRT494279	hsa-miR-548y	PAR-CLIP	23592263
MIRT494278	hsa-miR-559	PAR-CLIP	23592263
MIRT494277	hsa-miR-548av-5p	PAR-CLIP	23592263
MIRT494276	hsa-miR-548k	PAR-CLIP	23592263
MIRT494275	hsa-miR-8054	PAR-CLIP	23592263
MIRT494274	hsa-miR-548l	PAR-CLIP	23592263
MIRT494273	hsa-miR-5692a	PAR-CLIP	23592263
MIRT494272	hsa-miR-3156-5p	PAR-CLIP	23592263
MIRT494271	hsa-miR-142-5p	PAR-CLIP	23592263
MIRT494270	hsa-miR-5590-3p	PAR-CLIP	23592263
MIRT494269	hsa-miR-4302	PAR-CLIP	23592263
MIRT494268	hsa-miR-199a-5p	PAR-CLIP	23592263
MIRT494267	hsa-miR-199b-5p	PAR-CLIP	23592263
MIRT494266	hsa-let-7a-5p	PAR-CLIP	23592263
MIRT494265	hsa-let-7b-5p	PAR-CLIP	23592263
MIRT494264	hsa-let-7c-5p	PAR-CLIP	23592263
MIRT032139	hsa-let-7d-5p	PAR-CLIP	23592263
MIRT494263	hsa-let-7e-5p	PAR-CLIP	23592263
MIRT494262	hsa-let-7f-5p	PAR-CLIP	23592263
MIRT494261	hsa-let-7g-5p	PAR-CLIP	23592263
MIRT494260	hsa-let-7i-5p	PAR-CLIP	23592263
MIRT494258	hsa-miR-4458	PAR-CLIP	23592263
MIRT494259	hsa-miR-4500	PAR-CLIP	23592263
MIRT494257	hsa-miR-98-5p	PAR-CLIP	23592263
MIRT494255	hsa-miR-6878-5p	PAR-CLIP	23592263
MIRT494256	hsa-miR-6731-5p	PAR-CLIP	23592263
MIRT494254	hsa-miR-8085	PAR-CLIP	23592263
MIRT494253	hsa-miR-4648	PAR-CLIP	23592263
MIRT494252	hsa-miR-1233-5p	PAR-CLIP	23592263
MIRT494251	hsa-miR-6778-5p	PAR-CLIP	23592263
MIRT494250	hsa-miR-4654	PAR-CLIP	23592263
MIRT494249	hsa-miR-4769-5p	PAR-CLIP	23592263
MIRT494248	hsa-miR-3671	PAR-CLIP	23592263
MIRT494247	hsa-miR-30c-1-3p	PAR-CLIP	23592263
MIRT494246	hsa-miR-30c-2-3p	PAR-CLIP	23592263
MIRT494245	hsa-miR-6788-5p	PAR-CLIP	23592263
MIRT885567	hsa-let-7a	CLIP-seq
MIRT885568	hsa-let-7b	CLIP-seq
MIRT885569	hsa-let-7c	CLIP-seq
MIRT885570	hsa-let-7d	CLIP-seq
MIRT885571	hsa-let-7e	CLIP-seq
MIRT885572	hsa-let-7f	CLIP-seq
MIRT885573	hsa-let-7g	CLIP-seq
MIRT885574	hsa-let-7i	CLIP-seq
MIRT885575	hsa-miR-105	CLIP-seq
MIRT885576	hsa-miR-106a	CLIP-seq
MIRT885577	hsa-miR-106b	CLIP-seq
MIRT885578	hsa-miR-1276	CLIP-seq
MIRT885579	hsa-miR-130a	CLIP-seq
MIRT885580	hsa-miR-130b	CLIP-seq
MIRT885581	hsa-miR-1324	CLIP-seq
MIRT885582	hsa-miR-17	CLIP-seq
MIRT885583	hsa-miR-181a	CLIP-seq
MIRT885584	hsa-miR-181b	CLIP-seq
MIRT885585	hsa-miR-181c	CLIP-seq
MIRT885586	hsa-miR-181d	CLIP-seq
MIRT885587	hsa-miR-2052	CLIP-seq
MIRT885588	hsa-miR-20a	CLIP-seq
MIRT885589	hsa-miR-20b	CLIP-seq
MIRT885590	hsa-miR-217	CLIP-seq
MIRT885591	hsa-miR-24	CLIP-seq
MIRT885592	hsa-miR-301a	CLIP-seq
MIRT885593	hsa-miR-301b	CLIP-seq
MIRT885594	hsa-miR-3065-5p	CLIP-seq
MIRT885595	hsa-miR-3134	CLIP-seq
MIRT885596	hsa-miR-320a	CLIP-seq
MIRT885597	hsa-miR-320b	CLIP-seq
MIRT885598	hsa-miR-320c	CLIP-seq
MIRT885599	hsa-miR-320d	CLIP-seq
MIRT885600	hsa-miR-338-5p	CLIP-seq
MIRT885601	hsa-miR-3609	CLIP-seq
MIRT885602	hsa-miR-3653	CLIP-seq
MIRT885603	hsa-miR-3658	CLIP-seq
MIRT885604	hsa-miR-3664-5p	CLIP-seq
MIRT885605	hsa-miR-3666	CLIP-seq
MIRT885606	hsa-miR-410	CLIP-seq
MIRT885607	hsa-miR-4262	CLIP-seq
MIRT885608	hsa-miR-4279	CLIP-seq
MIRT885609	hsa-miR-4284	CLIP-seq
MIRT885610	hsa-miR-4295	CLIP-seq
MIRT885611	hsa-miR-4429	CLIP-seq
MIRT885612	hsa-miR-4534	CLIP-seq
MIRT885613	hsa-miR-454	CLIP-seq
MIRT885614	hsa-miR-4662a-5p	CLIP-seq
MIRT885615	hsa-miR-4670-3p	CLIP-seq
MIRT885616	hsa-miR-4694-3p	CLIP-seq
MIRT885617	hsa-miR-4696	CLIP-seq
MIRT885618	hsa-miR-4711-3p	CLIP-seq
MIRT885619	hsa-miR-4714-5p	CLIP-seq
MIRT885620	hsa-miR-4716-5p	CLIP-seq
MIRT885621	hsa-miR-4796-3p	CLIP-seq
MIRT885622	hsa-miR-488	CLIP-seq
MIRT885623	hsa-miR-495	CLIP-seq
MIRT885624	hsa-miR-496	CLIP-seq
MIRT885625	hsa-miR-519a	CLIP-seq
MIRT885626	hsa-miR-519b-3p	CLIP-seq
MIRT885627	hsa-miR-519c-3p	CLIP-seq
MIRT885628	hsa-miR-519d	CLIP-seq
MIRT885629	hsa-miR-520d-5p	CLIP-seq
MIRT885630	hsa-miR-524-5p	CLIP-seq
MIRT885631	hsa-miR-548ah	CLIP-seq
MIRT885632	hsa-miR-548an	CLIP-seq
MIRT885633	hsa-miR-548h	CLIP-seq
MIRT885634	hsa-miR-548j	CLIP-seq
MIRT885635	hsa-miR-587	CLIP-seq
MIRT885636	hsa-miR-605	CLIP-seq
MIRT885637	hsa-miR-607	CLIP-seq
MIRT885638	hsa-miR-93	CLIP-seq
MIRT885639	hsa-miR-98	CLIP-seq
MIRT1962687	hsa-miR-1224-5p	CLIP-seq
MIRT885581	hsa-miR-1324	CLIP-seq
MIRT885590	hsa-miR-217	CLIP-seq
MIRT1962688	hsa-miR-3614-5p	CLIP-seq
MIRT1962689	hsa-miR-3915	CLIP-seq
MIRT1962690	hsa-miR-3928	CLIP-seq
MIRT1962691	hsa-miR-4689	CLIP-seq
MIRT1962692	hsa-miR-4789-5p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT885633	hsa-miR-548h	CLIP-seq
MIRT885634	hsa-miR-548j	CLIP-seq
MIRT1962695	hsa-miR-668	CLIP-seq
MIRT2198949	hsa-miR-1251	CLIP-seq
MIRT2198950	hsa-miR-203	CLIP-seq
MIRT885591	hsa-miR-24	CLIP-seq
MIRT1962688	hsa-miR-3614-5p	CLIP-seq
MIRT2198951	hsa-miR-3662	CLIP-seq
MIRT2198952	hsa-miR-4274	CLIP-seq
MIRT885609	hsa-miR-4284	CLIP-seq
MIRT2198953	hsa-miR-4704-3p	CLIP-seq
MIRT2198954	hsa-miR-4742-5p	CLIP-seq
MIRT2198955	hsa-miR-4803	CLIP-seq
MIRT885622	hsa-miR-488	CLIP-seq
MIRT885624	hsa-miR-496	CLIP-seq
MIRT2198956	hsa-miR-513a-5p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT2198957	hsa-miR-548a-3p	CLIP-seq
MIRT2198958	hsa-miR-548e	CLIP-seq
MIRT2198959	hsa-miR-548f	CLIP-seq
MIRT2198960	hsa-miR-656	CLIP-seq
MIRT1962695	hsa-miR-668	CLIP-seq
MIRT2501739	hsa-miR-25	CLIP-seq
MIRT2501740	hsa-miR-3074-5p	CLIP-seq
MIRT2501741	hsa-miR-32	CLIP-seq
MIRT2501742	hsa-miR-363	CLIP-seq
MIRT2501743	hsa-miR-367	CLIP-seq
MIRT2501744	hsa-miR-370	CLIP-seq
MIRT2501745	hsa-miR-4712-3p	CLIP-seq
MIRT1962693	hsa-miR-518a-5p	CLIP-seq
MIRT1962694	hsa-miR-527	CLIP-seq
MIRT2501746	hsa-miR-548c-3p	CLIP-seq
MIRT2501747	hsa-miR-889	CLIP-seq
MIRT2501748	hsa-miR-92a	CLIP-seq
MIRT2501749	hsa-miR-92b	CLIP-seq
MIRT2678024	hsa-miR-3130-3p	CLIP-seq
MIRT2678025	hsa-miR-3607-5p	CLIP-seq
MIRT2678026	hsa-miR-4474-3p	CLIP-seq
MIRT2678027	hsa-miR-4793-3p	CLIP-seq
MIRT2678028	hsa-miR-942	CLIP-seq

Show/Hide all (30)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000226	Process	Microtubule cytoskeleton organization	IEA
GO:0005515	Function	Protein binding	IPI	26638075
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IDA	21399614, 36590171
GO:0005813	Component	Centrosome	IEA
GO:0005814	Component	Centriole	IEA
GO:0005814	Component	Centriole	ISS
GO:0005856	Component	Cytoskeleton	IEA
GO:0007098	Process	Centrosome cycle	IEA
GO:0007098	Process	Centrosome cycle	ISS
GO:0008283	Process	Cell population proliferation	IEA
GO:0010824	Process	Regulation of centrosome duplication	IEA
GO:0010825	Process	Positive regulation of centrosome duplication	IEA
GO:0010825	Process	Positive regulation of centrosome duplication	ISS
GO:0021987	Process	Cerebral cortex development	IEA
GO:0022008	Process	Neurogenesis	IEA
GO:0022027	Process	Interkinetic nuclear migration	IBA
GO:0022027	Process	Interkinetic nuclear migration	IEA
GO:0030953	Process	Astral microtubule organization	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032880	Process	Regulation of protein localization	IEA
GO:0032886	Process	Regulation of microtubule-based process	IEA
GO:0045724	Process	Positive regulation of cilium assembly	IEA
GO:0045724	Process	Positive regulation of cilium assembly	ISS
GO:0090068	Process	Positive regulation of cell cycle process	IEA
GO:1902117	Process	Positive regulation of organelle assembly	IEA
GO:1903724	Process	Positive regulation of centriole elongation	IBA
GO:1903724	Process	Positive regulation of centriole elongation	IMP	27185865
GO:1904951	Process	Positive regulation of establishment of protein localization	IMP	27185865

MIM	HGNC	e!Ensembl
613446	26690	ENSG00000168944

Q8N960

Protein name

Centrosomal protein of 120 kDa (Cep120) (Coiled-coil domain-containing protein 100)

Protein function

Plays a role in the microtubule-dependent coupling of the nucleus and the centrosome. Involved in the processes that regulate centrosome-mediated interkinetic nuclear migration (INM) of neural progenitors and for proper positioning of neurons du

PDB

4ICW , 4ICX , 6FLJ , 6FLK

Family and domains

Pfam

Accession	ID	Position in sequence	Description	Type
PF00168	C2	9 → 114	C2 domain	Domain
PF12416	DUF3668	118 → 340	Cep120 protein	Family
PF00168	C2	517 → 565	C2 domain	Domain

Sequence

MVSKSDQLLIVVSILEGRHFPKRPKHMLVVEAKFDGEQLATDPVDHTDQPEFATELAWEI
DRKALHQHRLQRTPIKLQCFALDPVTSAKETIGYIVLDLRTAQETKQAPKWYQLLSNKYT
KFKSEIQISIALETDTKPPVDSFKAKGAPPRDGKVPAILAGLDPRDIVAVLNEEGGYHQI
GPAEYCTDSFIMSVTIAFATQLEQLIPCTMKLPERQPEFFFYYSLLGNDVTNEPFNDLIN
PNFEPERASVRIRSSVEILRVYLALQSKLQIHLCCGDQSLGSTEIPLTGLLKKGSTEINQ
HPVTVEGAFTLDPPNRAKQKLAPIPVELAPTVGVSVALQREGIDSQSLIELKTQNEHEPE
HSKKKVLTPIKEKTLTGPKSPTVSPVPSHNQSPPTKDDATESEVESLQYDKDTKPNPKAS
SSVPASLAQLVTTSNASEVASGQKIAVPATSHHFCFSIDLRSIHALEIGFPINCILRYSY
PFFGSAAPIMTNPPVEVRKNMEVFLPQSYCAFDFATMPHQLQDTFLRIPLLVELWHKDKM
SKDLLLGIARIQLSNILSSEKTRFLGSNGEQCWRQTYSESVPVIAAQGSNNRIADLSYTV
TLEDYGLVKMREIFISDSSQGVSAVQQKPSSLPPAPCPSEIQTEPRETLEYKAALELEMW
KEMQEDIFENQLKQKELAHMQALAEEWKKRDRERESLVKKKVAEYTILEGKLQKTLIDLE
KREQQLASVESELQREKKELQSERQRNLQELQDSIRRAKEDCIHQVELERLKIKQLEEDK
HRLQQQLNDAENKYKILEKEFQQFKDQQNNKPEIRLQSEINLLTLEKVELERKLESATKS
KLHYKQQWGRALKELARLKQREQESQMARLKKQQEELEQMRLRYLAAEEKDTVKTERQEL
LDIRNELNRLRQQEQKQYQDSTEIASGKKDGPHGSVLEEGLDDYLTRLIEERDTLMRTGV
YNHEDRIISELDRQIREILAKSNASN

Sequence length

986

Interactions

View interactions

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)

Show/Hide Causal Diseases (3)

Phenotype Name	Clinical Significance	dbSNP ID	RCV Accession	Evidence Score
Causal Diseases associated with Pathogenic or Likely Pathogenic variants in ClinVar
Chuvash polycythemia	Likely pathogenic	rs757499322	RCV004813107	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome 31	Likely pathogenic; Pathogenic	rs781434539, rs1554104276, rs1554102026, rs1554103267	RCV005432827 RCV000515139 RCV000515151 RCV000515141	★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Short-rib thoracic dysplasia 13 with or without polydactyly	Pathogenic; Likely pathogenic	rs1772529903, rs2127034914, rs2127055990, rs2127071022, rs2127056186, rs774440370, rs781434539, rs2127059805, rs367600930, rs2479298976, rs552760651, rs2479304832, rs1228099402, rs2479747890, rs2479788124 View all (7 more)	RCV001328697 RCV001390516 RCV001381900 RCV001390876 RCV003992550 View all (17 more)	★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)

Show/Hide Unknown Diseases (37)

Phenotype Name	Clinical Significance	Source	Evidence Score
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Acute myeloid leukemia	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASPHYXIATING THORACIC DYSPLASIA JEUNE	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BREAST CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP120-related disorder	Uncertain significance; Likely benign; Benign; Conflicting classifications of pathogenicity	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cervical cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cholangiocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHIES	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CILIOPATHY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DESBUQUOIS SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ERYTHROCYTOSIS, FAMILIAL, 2	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
FAMILIAL APLASIA OF THE VERMIS	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial cancer of breast	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Gastric cancer	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ISOLATED JOUBERT SYNDROME	—	Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE SYNDROME	—	CTD, Orphanet CTD, Orphanet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JEUNE THORACIC DYSTROPHY	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
JOUBERT SYNDROME WITH OCULAR DEFECT	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant lymphoma, large B-cell, diffuse	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Malignant tumor of esophagus	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
METABOLIC SYNDROME	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
MULTIPLE MYELOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OBESITY	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ovarian serous cystadenocarcinoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CANCER	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
PROSTATE CARCINOMA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Sarcoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB DYSPLASIA	—	Disgenet	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT RIB-POLYDACTYLY SYNDROME	—	CTD	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SLEEP APNEA	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Thymoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
TYPE 2 DIABETES MELLITUS	—	GWAS catalog	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine carcinosarcoma	Benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Uterine corpus endometrial carcinoma	Benign; Likely benign	ClinVar	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Show/Hide Text Mining Associations (90)

Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Associations from Text Mining Disease associations identified through text mining
Agenesis of Corpus Callosum	Corpus callosum agenesis	Pubtator	33270637	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Agenesis of corpus callosum	Agenesis Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ambiguous Genitalia	Ambiguous Genitalia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Anus, Imperforate	Imperforate anus	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Atrial Septal Defects	Atrial Septal Defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Blepharoptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Brachydactyly	Brachydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar hypoplasia	Pubtator	34711653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Cerebellar Hypoplasia	Cerebellar Hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ciliopathies	Ciliopathies	BEFREE	25361962, 27208211, 29398280, 29741480, 29847808, 30988386		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Ciliopathies	Ciliopathy	Pubtator	27208211, 30988386, 33297941, 33486889	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Coloboma of the Retina	Retinal coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital cerebral hernia	Congenital Cerebral Hernia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital coloboma of iris	Congenital Coloboma Of Iris	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of kidney	Renal hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital hypoplasia of lung	Pulmonary hypoplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Congenital omphalocele	Congenital omphalocele	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Cryptorchidism	Cryptorchidism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dandy-Walker Syndrome	Dandy-Walker Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dextrocardia	Dextrocardia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Dwarfism	Dwarfism	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Encephalocele	Encephalocele	Pubtator	27208211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Familial aplasia of the vermis	Cerebellar vermis agenesis	BEFREE	27208211, 29398280, 30988386		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Familial aplasia of the vermis	Cerebellar vermis agenesis	ORPHANET_DG	27208211		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Fundus coloboma	Fundus Coloboma	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Global developmental delay	Developmental Delay	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hirschsprung Disease	Hirschsprung Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hydrocephalus	Hydrocephalus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Hypoplasia of corpus callosum	Hypoplasia Of Corpus Callosum	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Impaired cognition	Impaired Cognition	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intellectual Disability	Mental retardation	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Intervertebral Disc Degeneration	Intervertebral disc disease	Pubtator	37915003	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Jeune syndrome	Jeune Syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune syndrome	Jeune syndrome	Pubtator	27208211, 30988386, 33297941	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	BEFREE	25361962, 29741480		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	ORPHANET_DG	25361962		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Jeune thoracic dystrophy	Jeune Thoracic Dystrophy	GENOMICS_ENGLAND_DG	29847808		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome	Joubert syndrome	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome 1	Joubert Syndrome	GENOMICS_ENGLAND_DG	27208211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Joubert syndrome 1	Joubert Syndrome	ORPHANET_DG	27208211		★★★★★ ★☆☆☆☆ Found in Text Mining only
JOUBERT SYNDROME 31	Joubert syndrome	UNIPROT_DG	27208211		★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 31	Joubert syndrome	GENOMICS_ENGLAND_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
JOUBERT SYNDROME 31	Joubert syndrome	CLINVAR_DG			★★★★★ ★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	ORPHANET_DG	27208211		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Joubert syndrome with ocular defect	Joubert Syndrome With Ocular Defect	Orphanet			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Kidney Diseases	Kidney Disease	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Macrotia	Macrotia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Majewski Syndrome	Majewski Syndrome	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel Syndrome	BEFREE	27208211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Meckel syndrome type 1	Meckel-gruber syndrome	Pubtator	27208211, 33486889	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Micromelia	Micromelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Microphthalmos	Microphthalmos	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Multiple Myeloma	Multiple myeloma	GWASCAT_DG	30213928		★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Multiple Myeloma	Multiple myeloma	Pubtator	35013207	Associate	★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Neck webbing	Neck Webbing	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nephronophthisis	Nephronophthisis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Nystagmus	Nystagmus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculomotor apraxia	Oculomotor apraxia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oculovestibuloauditory syndrome	Oculovestibuloauditory Syndrome	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Oral cleft	Oral cleft	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteochondrodysplasias	Osteochondrodysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous Dysplasia	BEFREE	27208211		★★★★★ ★☆☆☆☆ Found in Text Mining only
Osteofibrous Dysplasia	Osteofibrous dysplasia	Pubtator	27208211	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Patent ductus arteriosus	Patent ductus arteriosus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Periventricular Nodular Heterotopia	Periventricular nodular heterotopia	Pubtator	34711653	Associate	★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly	Polydactyly	GENOMICS_ENGLAND_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polydactyly of toes	Polydactyly Of Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
POLYDACTYLY, POSTAXIAL	Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Polymicrogyria	Polymicrogyria	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Postaxial foot polydactyly	Foot Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ptosis	Ptosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Radial polydactyly	Radial Polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Relative macrocephaly	Macrocephaly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Renal Insufficiency	Renal Insufficiency	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Retinal Dystrophies	Retinal Dystrophy	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Rhizomelia	Rhizomelia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Saldino-Noonan Syndrome	Asphyxiating thoracic dystrophy	CTD_human_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Scoliosis, unspecified	Scoliosis	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Short Rib-Polydactyly Syndrome	Short Rib-Polydactyly Syndrome	CTD_human_DG			★★★★★ ★★☆☆☆ Found in Text Mining + Unknown/Other Associations
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	UNIPROT_DG	25361962		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	GENOMICS_ENGLAND_DG	27208211, 29847808		★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
SHORT-RIB THORACIC DYSPLASIA 13 WITH OR WITHOUT POLYDACTYLY	Short-Rib Thoracic Dysplasia With Or Without Polydactyly	CLINVAR_DG			★★★★★ ★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Simple renal cyst	Renal cyst	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Situs inversus totalis	Situs Inversus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Skeletal dysplasia	Skeletal Dysplasia	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Strabismus	Strabismus	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Syndactyly of the toes	Syndactyly Of The Toes	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ulnar polydactyly of fingers	Postaxial hand polydactyly	HPO_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only
Ventricular Septal Defects	Ventricular septal defect	CLINVAR_DG			★★★★★ ★☆☆☆☆ Found in Text Mining only

CEP120 (centrosomal protein 120)