MKS1 (GeneID: 54903) | Homo sapiens
Description: Meckel syndrome, type 1 [Source:HGNC Symbol;Acc:HGNC:7121]
Synonyms: MKS, BBS13, MES, POC12, JBTS28
Other ID(s): HGNC:7121, ENSG00000011143
Protein Accession Numbers: ENST00000577315, NP_001308198, ENST00000393120, ENST00000585134, ENST00000337050, ENST00000578789, NP_060247, ENST00000546108, NP_001308197, ENST00000393119.2, ENST00000581761, ENST00000313863, ENST00000577824, NP_001317326, ENST00000537529, NP_001159399, ENST00000393119, ENST00000580127
Statistics: ClinVar(234) gnomAD(394) COSMIC(188)
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.
ENST00000313863 You are here now! ENST00000337050 ENST00000393119 ENST00000393120 ENST00000537529 ENST00000546108 ENST00000577315 ENST00000577824 ENST00000578789 ENST00000580127 ENST00000581761 ENST00000585134 NP_001159399 NP_001308197 NP_001308198 NP_001317326 You are here now! NP_060247


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
PF07162 B9-C2 Ciliary basal body-associated, B9 protein 313-441 CL0154 C2 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cholestasis Digestive System Diseases ; 0.546 0.69
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.69
Meckel-Gruber syndrome N/A 0.546 0.69
Familial aplasia of the vermis Eye Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.69
Bardet-Biedl Syndrome Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.69
Cholestasis in newborn N/A 0.546 0.69
Cystic Kidney Diseases Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; 0.546 0.69
BARDET-BIEDL SYNDROME 13 Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.69
Meckel syndrome type 1 Respiratory Tract Diseases ; Otorhinolaryngologic Diseases ; Nervous System Diseases ; Male Urogenital Diseases ; Female Urogenital Diseases and Pregnancy Complications ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; Pathological Conditions, Signs and Symptoms ; 0.546 0.69
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.546 0.69
Joubert syndrome with ocular defect N/A 0.546 0.69
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.546 0.69
NO RESULT FOUND
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