CSPP1 (GeneID: 79848) | Homo sapiens
Description: centrosome and spindle pole associated protein 1 [Source:HGNC Symbol;Acc:HGNC:26193]
Synonyms: CSPP, JBTS21
Other ID(s): HGNC:26193, ENSG00000104218
Protein Accession Numbers: NP_001350062, ENST00000412460, NP_001278268, ENST00000519668, NP_001351799, NP_001350061, ENST00000262210.5, ENST00000521919, NP_079066, ENST00000519163, NP_001351798, NP_001350060, ENST00000262210, ENST00000519701, NP_001369320
Statistics: ClinVar(248)
ClinVar Pathogenicity of Variations help

∙ 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.
ENST00000262210 ENST00000412460 ENST00000519163 ENST00000519668 ENST00000519701 ENST00000521919 NP_001278268 NP_001350060 NP_001350061 NP_001350062 NP_001351798 NP_001351799 NP_001369320 NP_079066


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.586
Meckel-Gruber syndrome N/A 0.63 0.586
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.586
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.63 0.586
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.63 0.586
Joubert syndrome with Jeune asphyxiating thoracic dystrophy N/A 0.63 0.586
NO RESULT FOUND
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