CEP85L (centrosomal protein 85L)

Gene

• Entrez ID: 387119
• Gene name: Centrosomal protein 85L
• Gene symbol: CEP85L
• Synonyms (NCBI Gene): C6orf204, LIS10, NY-BR-15, bA57K17.2
• Chromosome: 6
• Chromosome location: 6q22.31
• Summary: The protein encoded by this gene was identified as a breast cancer antigen. Nothing more is known of its function at this time. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2010]

miRNA

miRTarBase ID	miRNA	Experiments	Reference
MIRT018852	hsa-miR-335-5p	Microarray	18185580
MIRT659574	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659573	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT659571	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT659574	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659573	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT659572	hsa-miR-8063	HITS-CLIP	23824327
MIRT659571	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT448940	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT448939	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT448938	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT448940	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT448939	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT448938	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT659574	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659573	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT659571	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT659574	hsa-miR-548c-3p	HITS-CLIP	23824327
MIRT659573	hsa-miR-4668-3p	HITS-CLIP	23824327
MIRT659572	hsa-miR-8063	HITS-CLIP	23824327
MIRT659571	hsa-miR-3124-3p	HITS-CLIP	23824327
MIRT448940	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT448939	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT448938	hsa-miR-215-5p	PAR-CLIP	22100165
MIRT448940	hsa-miR-4474-5p	PAR-CLIP	22100165
MIRT448939	hsa-miR-192-5p	PAR-CLIP	22100165
MIRT448938	hsa-miR-215-5p	PAR-CLIP	22100165

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0000242	Component	Pericentriolar material	IDA	32097630
GO:0001764	Process	Neuron migration	IMP	32097630
GO:0005515	Function	Protein binding	IPI	32296183
GO:0005737	Component	Cytoplasm	IEA
GO:0005813	Component	Centrosome	IBA
GO:0005813	Component	Centrosome	IEA
GO:0005813	Component	Centrosome	TAS	21399614
GO:0005856	Component	Cytoskeleton	IEA

Other IDs

• MIM: 618865
• HGNC: 21638
• e!Ensembl: ENSG00000111860

Protein

• UniProt ID: Q5SZL2
• Protein name: Centrosomal protein of 85 kDa-like (Serologically defined breast cancer antigen NY-BR-15)
• Protein function: Plays an essential role in neuronal cell migration.
• Tissue specificity: TISSUE SPECIFICITY: Isoform 1 and isoform 4 are expressed in spleen, lymph, thymus, tonsil and peripheral blood leukocytes, with isoform 1 expressed at higher levels. Isoform 4 is detected in K-562 leukemia cells and in the blood of precursor T lymphoblas
• Sequence:

  MWGRFLAPEASGRDSPGGARSFPAGPDYSSAWLPANESLWQATTVPSNHRNNHIRRHSIA
  SDSGDTGIGTSCSDSVEDHSTSSGTLSFKPSQSLITLPTAHVMPSNSSASISKLRESLTP
  DGSKWSTSLMQTLGNHSRGEQDSSLDMKDFRPLRKWSSLSKLTAPDNCGQGGTVCREESR
  NGLEKIGKAKALTSQLRTIGPSCLHDSMEMLRLEDKEINKKRSSTLDCKYKFESCSKEDF
  RASSSTLRRQPVDMTYSALPESKPIMTSSEAFEPPKYLMLGQQAVGGVPIQPSVRTQMWL
  TEQLRTNPLEGRNTEDSYSLAPWQQQQIEDFRQGSETPMQVLTGSSRQSYSPGYQDFSKW
  ESMLKIKEGLLRQKEIVIDRQKQQITHLHERIRDNELRAQHAMLGHYVNCEDSYVASLQP
  QYENTSLQTPFSEESVSHSQQGEFEQKLASTEKEVLQLNEFLKQRLSLFSEEKKKLEEKL
  KTRDRYISSLKKKCQKESEQNKEKQRRIETLEKYLADLPTLDDVQSQSLQLQILEEKNKN
  LQEALIDTEKKLEEIKKQCQDKETQLICQKKKEKELVTTVQSLQQKVERCLEDGIRLPML
  DAKQLQNENDNLRQQNETASKIIDSQQDEIDRMILEIQSMQGKLSKEKLTTQKMMEELEK
  KERNVQRLTKALLENQRQTDETCSLLDQGQEPDQSRQQTVLSKRPLFDLTVIDQLFKEMS
  CCLFDLKALCSILNQRAQGKEPNLSLLLGIRSMNCSAEETENDHSTETLTKKLSDVCQLR
  RDIDELRTTISDRYAQDMGDNCITQ

• Sequence length: 805

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
Lissencephaly	Pathogenic; Likely pathogenic	rs2115322443, rs2115322620	RCV001391279 RCV001449660	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Lissencephaly 10	Likely pathogenic; Pathogenic	rs767792503, rs2533741192, rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763	RCV003887839 RCV003988910 RCV001093584 RCV001093585 RCV001093586 RCV001093587 RCV001093588	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Neurodevelopmental disorder	Pathogenic	rs1774227158	RCV001374914	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Posterior Predominant Lissencephaly	Pathogenic; Likely pathogenic	rs1775537467, rs1774229245, rs1774228957, rs754052089, rs1774226763, rs1774227158, rs1774228815, rs1774230502, rs1775537638	RCV001257933 RCV001257935 RCV001257956 RCV001257959 RCV001257960 RCV001257958 RCV001257957 RCV001257934 RCV001257932	★★★★★ ClinVar: Pathogenic / Likely Pathogenic (≥5 Variants)
Thick corpus callosum	Pathogenic	rs2115322443	RCV001391279	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)

Unknown / Other Associations
Phenotype Name	Clinical Significance	Source	Evidence Score
AORTIC VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 9	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ASTROCYTOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FIBRILLATION	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATRIAL FLUTTER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
ATTENTION DEFICIT HYPERACTIVITY DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
BIPOLAR DISORDER	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARREST	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIAC ARRHYTHMIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHIES	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CEP85L-related disorder	Benign; Uncertain significance; Likely benign	ClinVar	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
DYSLEXIA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART FAILURE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HEART VALVE DISEASE	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
HYPERTROPHIC CARDIOMYOPATHY	—	Disgenet, GWAS catalog Disgenet, GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
LISSENCEPHALY DUE TO LIS1 MUTATION	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
NEURODEVELOPMENTAL DISORDERS	—	Disgenet	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
OLIGODENDROGLIOMA	—	GWAS catalog	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Anaplastic astrocytoma	Anaplastic Astrocytoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9	Arrhythmogenic right ventricular cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial Fibrillation	GWASCAT_DG	29892015		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Atrial Fibrillation	Atrial fibrillation	Pubtator	35064145	Associate	★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Attention deficit hyperactivity disorder	Attention Deficit Hyperactivity Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Bipolar Disorder	Bipolar Disorder	GWASCAT_DG	27890468		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Borderline Personality Disorder	Borderline personality disorder	BEFREE	27890468		★☆☆☆☆ Found in Text Mining only
Breast Carcinoma	Breast Carcinoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Bronchopulmonary Dysplasia	Bronchopulmonary Dysplasia	BEFREE	27890468		★☆☆☆☆ Found in Text Mining only
Cardiomyopathies	Cardiomyopathy	CLINVAR_DG	16432188, 22820313, 23785128		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Dilated	Cardiomyopathy	CLINVAR_DG	12610310, 16432188, 17010801, 18056057, 19139388, 19324307, 21282613, 22155237, 22427649, 22707725, 22820313, 23308118, 25593317, 25928149		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, DILATED, 1P	Cardiomyopathy	CLINVAR_DG	12639993, 16432188, 17655857, 21167350, 22155237, 22707725, 22820313, 23568436, 25611685, 26535225, 27532257		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 18	Cardiomyopathy	CLINVAR_DG			★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Cardiomyopathy, Hypertrophic, Familial	Cardiomyopathy	CLINVAR_DG			★☆☆☆☆ Found in Text Mining only
Chronic myeloproliferative disorder	Myeloproliferative disorder	BEFREE	21938754, 23186533		★☆☆☆☆ Found in Text Mining only
Classical Lissencephalies and Subcortical Band Heterotopias	Lissencephaly	Pubtator	34440382	Associate	★☆☆☆☆ Found in Text Mining only
Cognition Disorders	Cognition disorder	Pubtator	34440382	Associate	★☆☆☆☆ Found in Text Mining only
Colon Carcinoma	Colon Carcinoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Eosinophilia	Eosinophilia	BEFREE	21938754, 23186533		★☆☆☆☆ Found in Text Mining only
Epilepsy	Epilepsy	Pubtator	34440382	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	BEFREE	30171048		★☆☆☆☆ Found in Text Mining only
Glioblastoma	Glioblastoma	Pubtator	34875133	Associate	★☆☆☆☆ Found in Text Mining only
Glioblastoma Multiforme	Glioblastoma	BEFREE	30171048		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Hemangiosarcoma	Hemangiosarcoma	Pubtator	23637631	Associate	★☆☆☆☆ Found in Text Mining only
Hypertrophic Cardiomyopathy	Hypertrophic cardiomyopathy	CLINVAR_DG	12639993, 16235537, 17655857, 21167350, 21332051, 23861362		★★☆☆☆ Found in Text Mining + Unknown/Other Associations
Lissencephaly	Lissencephaly	Pubtator	34440382	Associate	★★★★☆ ClinVar: Pathogenic / Likely Pathogenic (<5 Variants)
Malignant neoplasm of breast	Breast Cancer	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	UNIPROT_DG			★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	30171048		★☆☆☆☆ Found in Text Mining only
Malignant tumor of colon	Colonic Neoplasms	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
melanoma	Melanoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only
Myeloproliferative disease	Myeloproliferative disorder	BEFREE	21938754, 23186533		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	23637631		★☆☆☆☆ Found in Text Mining only