ConVarT

ClinVar Data

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

gnomAD

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
17-75478263-C-G	ENST00000541152	p.Ala2Ala	Synonymous Variant	0	0	0	rs755992653
17-75478263-C-G	ENST00000591088	p.Ala2Ala	Synonymous Variant	0	0	0	rs755992653
17-75478263-C-G	ENST00000592951	p.Ala2Ala	Synonymous Variant	0	0	0	rs755992653
17-75478264-G-A	ENST00000541152	p.Asp3Asn	Missense Variant	3	31364	0.000096	rs777546447
17-75478264-G-A	ENST00000591088	p.Asp3Asn	Missense Variant	3	31364	0.000096	rs777546447
17-75478264-G-A	ENST00000592951	p.Asp3Asn	Missense Variant	3	31364	0.000096	rs777546447
17-75478266-C-T	ENST00000541152	p.Asp3Asp	Synonymous Variant	0	0	0	rs1274619553
17-75478266-C-T	ENST00000591088	p.Asp3Asp	Synonymous Variant	0	0	0	rs1274619553
17-75478266-C-T	ENST00000592951	p.Asp3Asp	Synonymous Variant	0	0	0	rs1274619553
17-75478269-C-A	ENST00000541152	p.Thr4Thr	Synonymous Variant	0	0	0	rs1343246719
17-75478269-C-A	ENST00000591088	p.Thr4Thr	Synonymous Variant	0	0	0	rs1343246719
17-75478269-C-A	ENST00000592951	p.Thr4Thr	Synonymous Variant	0	0	0	rs1343246719
17-75478279-G-A	ENST00000541152	p.Ala8Thr	Missense Variant	2	31380	0.000064	rs749212687
17-75478279-G-A	ENST00000591088	p.Ala8Thr	Missense Variant	2	31380	0.000064	rs749212687
17-75478279-G-A	ENST00000592951	p.Ala8Thr	Missense Variant	2	31380	0.000064	rs749212687
17-75478281-C-T	ENST00000541152	p.Ala8Ala	Synonymous Variant	0	0	0	rs770799510
17-75478281-C-T	ENST00000591088	p.Ala8Ala	Synonymous Variant	0	0	0	rs770799510
17-75478281-C-T	ENST00000592951	p.Ala8Ala	Synonymous Variant	0	0	0	rs770799510
17-75478282-G-A	ENST00000541152	p.Gly9Arg	Missense Variant	0	0	0	rs778340037
17-75478282-G-A	ENST00000591088	p.Gly9Arg	Missense Variant	0	0	0	rs778340037

Showing 1 to 20 of 870 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

Phosphorylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
SEPT9	Q9UHD8	Methylation	10	R10-m1	kSYsGGTrtssGRLR	65.4	27279569
SEPT9	Q9UHD8	Phosphorylation	11	T11-p	SYsGGTrtssGRLRR	65.4	18913596
SEPT9	Q9UHD8	Phosphorylation	111	S111-p	VSRRTELsIDIsSKQ	65.4	4746878
SEPT9	Q9UHD8	Phosphorylation	115	S115-p	TELsIDIsSKQVENA	65.4	56677601
SEPT9	Q9UHD8	Phosphorylation	12	S12-p	YsGGTrtssGRLRRL	65.4	18913599
SEPT9	Q9UHD8	Phosphorylation	13	S13-p	sGGTrtssGRLRRLG	65.4	18913602
SEPT9	Q9UHD8	Ubiquitination	141	K141-ub	RAEVLGHktPEPAPR	65.4	964543882
SEPT9	Q9UHD8	Phosphorylation	142	T142-p	AEVLGHktPEPAPRR	65.4	476596
SEPT9	Q9UHD8	Phosphorylation	160	S160-p	TIVKPQEsAHRRMEP	65.4	7103232
SEPT9	Q9UHD8	Ubiquitination	186	K186-ub	PATDAAPkRVEIQMP	65.4	21184430
SEPT9	Q9UHD8	Methylation	2	K2-m1	______MkkSYsGGT	65.4	57990748
SEPT9	Q9UHD8	Phosphorylation	203	S203-p	AEAPTAPsPAQTLEN	65.4	31868319
SEPT9	Q9UHD8	Phosphorylation	211	S211-p	PAQTLENsEPAPVsQ	65.4	51391048
SEPT9	Q9UHD8	Phosphorylation	217	S217-p	NsEPAPVsQLQSRLE	65.4	15405991
SEPT9	Q9UHD8	Phosphorylation	22	S22-p	RLRRLGDsSGPALkR	65.4	30960643
SEPT9	Q9UHD8	Phosphorylation	235	T235-p	QPPVAEAtPRsQEAt	65.4	3801732
SEPT9	Q9UHD8	Phosphorylation	238	S238-p	VAEAtPRsQEAtEAA	65.4	31854648
SEPT9	Q9UHD8	Phosphorylation	242	T242-p	tPRsQEAtEAAPsCV	65.4	31890291
SEPT9	Q9UHD8	Phosphorylation	247	S247-p	EAtEAAPsCVGDMAD	65.4	13879509
SEPT9	Q9UHD8	Phosphorylation	255	T255-p	CVGDMADtPRDAGLk	65.4	3801738

Showing 1 to 20 of 80 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

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Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
SEPT9_ENST00000541152	ENST00000541152	2011-2262:2012-374-T	upper_aerodigestive_tract	carcinoma	80896782	c.161-2442_161-2440del	p.?	Unknown			Confirmed somatic variant	PMID: 25056374	NS	0
SEPT9_ENST00000541152	ENST00000541152	PD13760a	breast	carcinoma	80893441	c.-32-4434_-32-4432del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	HUB-02-B2-066	large_intestine	carcinoma	80895025	c.509+127G>A	p.?	Unknown	NEUTRAL	.00653	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	J32_T	lung	carcinoma	80896231	c.-32-3938A>T	p.?	Unknown	NEUTRAL	.00243	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	CPCG0575-F1	prostate	carcinoma	80897359	c.160+2415T>G	p.?	Unknown	NEUTRAL	.00207	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	tumor_4115001	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	80897276	c.-33+797C>T	p.?	Unknown	PATHOGENIC	.7892	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	TCGA-B5-A11N-01	endometrium	carcinoma	80891385	c.918C>T	p.F306=	Substitution - coding silent	NEUTRAL	.22113	Reported in another cancer sample as somatic	PMID: N/A	primary	306
SEPT9_ENST00000541152	ENST00000541152	W34T	thyroid	carcinoma	80891361	c.4G>A	p.A2T	Substitution - Missense	PATHOGENIC	.73753	Confirmed somatic variant	PMID: N/A	primary	2
SEPT9_ENST00000541152	ENST00000541152	8031544	pancreas	carcinoma	80896923	c.*178G>A	p.?	Unknown	NEUTRAL	.07533	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	W34T	thyroid	carcinoma	80891351	c.-23C>T	p.?	Unknown	NEUTRAL	.19443	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	RK101_C01	liver	carcinoma	80896228	c.-33+13744C>A	p.?	Unknown	NEUTRAL	.00426	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	HCC61T	liver	carcinoma	80891937	c.873-17G>C	p.?	Unknown	NEUTRAL	.00919	Variant of unknown origin	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	PD6722a	breast	carcinoma	80895362	c.-32-9994G>C	p.?	Unknown	NEUTRAL	.05677	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	TCGA-ES-A2HT-01	liver	carcinoma	80895995	c.-32-6550T>C	p.?	Unknown	NEUTRAL	.01461	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	PCSI_0047_Pa_P	pancreas	carcinoma	80893309	c.-32-1905G>T	p.?	Unknown	NEUTRAL	.0589	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	EOPC-153_tumor_01	prostate	carcinoma	80897525	c.628-767C>T	p.?	Unknown	NEUTRAL	.01044	Confirmed somatic variant	PMID: N/A	primary	0
SEPT9_ENST00000541152	ENST00000541152	FU97	stomach	carcinoma	80894396	c.988C>A	p.P330T	Substitution - Missense	PATHOGENIC	.87257	Variant of unknown origin	PMID: 24807215	NS	330
SEPT9_ENST00000541152	ENST00000541152	HUB-02-B2-020	large_intestine	carcinoma	80897661	c.-32-4912C>T	p.?	Unknown	NEUTRAL	.00769	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	TCGA-EM-A2CL-01	thyroid	carcinoma	80894020	c.*565C>A	p.?	Unknown	NEUTRAL	.03777	Confirmed somatic variant	PMID: N/A	NS	0
SEPT9_ENST00000541152	ENST00000541152	ZLH-121T	stomach	carcinoma	80892121	c.-33+5277G>A	p.?	Unknown	NEUTRAL	.01897	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 755 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00735	Septin	Septin	295-574	CL0023	P-loop_NTPase	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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

Description:	septin 9 [Source:MGI Symbol;Acc:MGI:1858222]
Synonyms:	Eseptin, Slpa, Msf
Other ID(s):
Protein Accession Numbers:	NP_001106969, NP_789826, NP_114025
Statistics:	ClinVar(117) gnomAD(870) COSMIC(755) PTM(80)

Classification of Clinicial Significance of ClinVar Data