SEPT9 (GeneID: 10801) | Homo sapiens
Description: septin 9 [Source:HGNC Symbol;Acc:HGNC:7323]
Synonyms: SeptD1, MSF1, AF17q25, PNUTL4, MSF, NAPB, INT1
Other ID(s): ENSG00000282302, ENSG00000184640, HGNC:7323
Protein Accession Numbers: ENST00000588575, ENST00000589920, ENST00000590595, ENST00000591138, ENST00000591833, ENST00000427180, NP_001106964, ENST00000574853, NP_001280627, ENST00000585924, ENST00000587043, ENST00000587983, ENST00000589070, ENST00000590451, ENST00000590938, ENST00000591472, ENST00000423034, ENST00000593070, ENST00000571241, NP_001280624, ENST00000585440, ENST00000586433, ENST00000588690, ENST00000590294, ENST00000590825, ENST00000591262, ENST00000592420, ENST00000431235, NP_001106966, ENST00000575088, ENST00000585930, ENST00000587371, ENST00000588313, ENST00000589546, ENST00000590576, ENST00000591088, ENST00000591801, ENST00000427177.1, NP_001106963, ENST00000574362, NP_001280626, ENST00000585796, ENST00000586917, ENST00000588958, ENST00000590443, ENST00000590917, ENST00000591426, ENST00000329047, ENST00000592951, ENST00000541152, NP_001106968, ENST00000576977, ENST00000586128, ENST00000587968, ENST00000588583, ENST00000590059, ENST00000590691, ENST00000591198, ENST00000591934, ENST00000427674, NP_001106965, ENST00000574891, NP_006631, ENST00000585929, ENST00000587293, ENST00000588
Statistics: ClinVar(117) gnomAD(870) COSMIC(755) PTM(80)
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.
ENST00000329047 ENST00000423034 ENST00000427177 ENST00000427180 ENST00000427674 ENST00000431235 ENST00000449803 ENST00000541152 You are here now! ENST00000571241 ENST00000573468 ENST00000574362 ENST00000574853 ENST00000574891 ENST00000575088 You are here now! ENST00000576289 ENST00000576977 ENST00000585440 ENST00000585638 ENST00000585796 ENST00000585924 You are here now! ENST00000585929 ENST00000585930 ENST00000586105 ENST00000586128


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
PF00735 Septin Septin 295-574 CL0023 P-loop_NTPase Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Cervico-Brachial Neuralgia Nervous System Diseases ; 0.588 0.655
Charcot-Marie-Tooth Disease Nervous System Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.588 0.655
Leukemia, Myelocytic, Acute Neoplasms ; 0.588 0.655
Acute Myeloid Leukemia, M1 Neoplasms ; 0.588 0.655
Neoplasm Invasiveness Neoplasms ; Pathological Conditions, Signs and Symptoms ; 0.588 0.655
Brachial Neuralgia Nervous System Diseases ; 0.588 0.655
Brachial Plexus Neuritis Nervous System Diseases ; 0.588 0.655
Pain Disorder Mental Disorders ; 0.588 0.655
Neuralgic Amyotrophy Nervous System Diseases ; 0.588 0.655
AMYOTROPHY, HEREDITARY NEURALGIC Nervous System Diseases ; 0.588 0.655
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.588 0.655
NO RESULT FOUND
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