ConVarT

CEP41 (GeneID: 95681) | Homo sapiens

Description:	centrosomal protein 41 [Source:HGNC Symbol;Acc:HGNC:12370]
Synonyms:	JBTS15, TSGA14
Other ID(s):	HGNC:12370, ENSG00000106477
Protein Accession Numbers:	ENST00000343969, ENST00000492389, ENST00000580536, NP_001244088, ENST00000477003, ENST00000578879, ENST00000471201, ENST00000577507, ENST00000582189, NP_061188, ENST00000223208.5, ENST00000489512, ENST00000580443, NP_001244087, ENST00000475282, ENST00000578772, ENST00000469826, ENST00000541543, ENST00000582105, NP_001244089, ENST00000223208, ENST00000484549, ENST00000579704, ENST00000582998, ENST00000472739, ENST00000578060
Statistics:	ClinVar(91) gnomAD(310) COSMIC(189) PTM(13)

ClinVar Pathogenicity of Variations

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000223208 ENST00000343969 ENST00000469826 ENST00000471201 ENST00000472739 ENST00000475282 ENST00000477003 ENST00000484549 ENST00000489512 ENST00000492389 ENST00000541543 ENST00000577507 ENST00000578060 ENST00000578772 ENST00000578879 ENST00000579704 ENST00000580443 ENST00000580536 ENST00000582105 ENST00000582189 ENST00000582998 NP_001244087 NP_001244088 NP_001244089 NP_061188 You are here now! You are here now! You are here now!

ClinVar Data

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter

Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00581	Rhodanese	Rhodanese-like domain	161-260	CL0031	Phosphatase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Congenital ocular coloboma (disorder)	Eye Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.727	0.379
Polydactyly	Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.727	0.379
Familial aplasia of the vermis	Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.727	0.379
Autism Spectrum Disorders	Mental Disorders ;	0.727	0.379
Cystic Kidney Diseases	Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ;	0.727	0.379
Intellectual Disability	Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ;	0.727	0.379
Joubert syndrome with ocular defect	N/A	0.727	0.379
Ciliopathies	Congenital, Hereditary, and Neonatal Diseases and Abnormalities ;	0.727	0.379
NO RESULT FOUND