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, ENST00000477003, ENST00000578879, NP_001244088, ENST00000471201, ENST00000577507, ENST00000582189, ENST00000223208.5, ENST00000489512, ENST00000580443, NP_061188, ENST00000475282, ENST00000578772, NP_001244087, ENST00000469826, ENST00000541543, ENST00000582105, ENST00000223208, ENST00000484549, ENST00000579704, NP_001244089, ENST00000472739, ENST00000578060, ENST00000582998
Statistics: gnomAD(112)
gnomAD Variants By Annotation

∙ 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


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

healinggnomAD
Variant ID filter_list Transcript ID filter_list Alteration filter_list Annotation filter_list Allele C. filter_list Allele N. filter_list Allele F. filter_list rsNumber filter_list Flagsfilter_list Filter filter_list

placePost-translational Modifications (PTMs)
Gene Name filter_list ACC ID filter_list PTM Type filter_list Position filter_list Mod-rsd filter_list Site +/-7 Aa filter_list Mw_kd filter_list Site grpID filter_list

blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)
Gene Name filter_list Transcript ID filter_list Sample name filter_list Primary Site filter_list Primary Histology filter_list Mutation ID filter_list Mutation CDS filter_list Mutation Aa filter_list Mutation Desc. filter_list FATHMM Prediction filter_list FATHMM Score filter_list Mutation Somatic Status filter_list PUBMED PMID filter_list Tumor Origin filter_list Position filter_list

chrome_reader_modedbSNP
Gene ID filter_list Transcript ID filter_list Consequence filter_list Position filter_list HGVSp filter_list Impact filter_list

format_align_centerProtein Domains (PFAM)
Pfam Domain filter_list Domain Name filter_list Description filter_list Positions filter_list Clan filter_list Clan Name filter_list Organism filter_list
NO RESULT FOUND
PF00581 Rhodanese Rhodanese-like domain 161-260 CL0031 Phosphatase Mus musculus

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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