B9D1 (GeneID: 27077) | Homo sapiens
Description: B9 domain containing 1 [Source:HGNC Symbol;Acc:HGNC:24123]
Synonyms: MKS9, B9, JBTS27, MKSR1, EPPB9
Other ID(s): HGNC:24123, ENSG00000108641
Protein Accession Numbers: ENST00000477478, NP_001308143, NP_056496, ENST00000395616, ENST00000582857, NP_001308148, ENST00000261499.4, ENST00000574508, NP_001308145, ENST00000461069, NP_001230404, NP_001355698, ENST00000395615, ENST00000575478, NP_001308147, ENST00000261499, ENST00000487415, NP_001308144, ENST00000440841, NP_001230402, NP_001317078, ENST00000268841, ENST00000575403, NP_001308146
Statistics: gnomAD(16)
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.
ENST00000261499 ENST00000268841 ENST00000395615 ENST00000395616 ENST00000440841 ENST00000461069 ENST00000477478 ENST00000487415 ENST00000574508 ENST00000575403 ENST00000575478 ENST00000582857 NP_001230402 NP_001230404 NP_001308143 NP_001308144 NP_001308145 NP_001308146 NP_001308147 NP_001308148 NP_001317078 NP_001355698 NP_056496


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
Liver Cirrhosis, Experimental Digestive System Diseases ; 0.633 0.586
Polydactyly Musculoskeletal Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.633 0.586
Gastrointestinal Stromal Tumors Neoplasms ; Digestive System Diseases ; 0.633 0.586
Meckel-Gruber syndrome N/A 0.633 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 ; 0.633 0.586
Gastrointestinal Stromal Sarcoma Neoplasms ; Digestive System Diseases ; 0.633 0.586
Intellectual Disability Nervous System Diseases ; Pathological Conditions, Signs and Symptoms ; Behavior and Behavior Mechanisms ; Mental Disorders ; 0.633 0.586
Ciliopathies Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.633 0.586
JOUBERT SYNDROME 27 N/A 0.633 0.586
NO RESULT FOUND
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