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

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Filter
9-33265082-C-A	ENST00000419016	p.Asn2Lys	Missense Variant	0	0	0	rs1178745276
9-33265083-C-A	ENST00000419016	p.Arg3Arg	Synonymous Variant	0	0	0	rs770726636
9-33265085-A-G	ENST00000419016	p.Arg3Arg	Synonymous Variant	0	0	0	rs776456950
9-33265086-C-G	ENST00000419016	p.Leu4Val	Missense Variant	0	0	0	rs745517732
9-33265091-CG-C	ENST00000419016	p.Ala8ArgfsTer10	Frameshift Variant	1	31386	0.000032	rs1346494492
9-33265093-G-C	ENST00000419016	p.Gly6Ala	Missense Variant	0	0	0	rs1376018030
9-33265099-C-T	ENST00000419016	p.Ala8Val	Missense Variant	1	31394	0.000032	rs906506442
9-33265103-A-G	ENST00000419016	p.Lys9Lys	Synonymous Variant	0	0	0	rs769371689
9-33265103-A-T	ENST00000419016	p.Lys9Asn	Missense Variant	1	31352	0.000032	rs769371689	RF
9-33265106-C-G	ENST00000419016	p.Pro10Pro	Synonymous Variant	0	0	0	rs1346769741
9-33265109-G-A	ENST00000419016	p.Lys11Lys	Synonymous Variant	1	31392	0.000032	rs377277774
9-33265109-G-C	ENST00000419016	p.Lys11Asn	Missense Variant	2	31392	0.000064	rs377277774
9-33265111-C-T	ENST00000419016	p.Ala12Val	Missense Variant	0	0	0	rs763547901
9-33265113-C-T	ENST00000419016	p.Pro13Ser	Missense Variant	2	31382	0.000064	rs773742450
9-33265116-C-T	ENST00000419016	p.Pro14Ser	Missense Variant	0	0	0	rs761137293
9-33265118-G-A	ENST00000419016	p.Pro14Pro	Synonymous Variant	0	0	0	rs1251580334
9-33265122-A-G	ENST00000419016	p.Ser16Gly	Missense Variant	0	0	0	rs766755613
9-33265125-C-T	ENST00000419016	p.Leu17Leu	Synonymous Variant	0	0	0	rs754318300
9-33265127-G-T	ENST00000419016	p.Leu17Leu	Synonymous Variant	0	0	0	rs755396459
9-33265136-C-T	ENST00000419016	p.Cys20Cys	Synonymous Variant	0	0	0	rs765493437

Showing 1 to 20 of 130 entries

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Post-translational Modifications (PTMs)

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
CHMP5	Q9NZZ3	Ubiquitination	100	K100-ub	NytIQsLkDTKTTVD	24.57	21171716
CHMP5	Q9NZZ3	Ubiquitination	110	K110-ub	KTTVDAMkLGVKEMK	24.57	573788864
CHMP5	Q9NZZ3	Phosphorylation	16	S16-p	KPKAPPPsLtDCIGT	24.57	23093839
CHMP5	Q9NZZ3	Phosphorylation	18	T18-p	KAPPPsLtDCIGTVD	24.57	34367632
CHMP5	Q9NZZ3	Phosphorylation	219	S219-p	GLPQIPAs_______	24.57	3214407
CHMP5	Q9NZZ3	Methylation	3	R3-m1	_____MNrLFGKAKP	24.57	57734871
CHMP5	Q9NZZ3	Phosphorylation	30	S30-p	TVDSRAEsIDKKISR	24.57	36130689
CHMP5	Q9NZZ3	Ubiquitination	44	K44-ub	RLDAELVkYKDQIKK	24.57	22242339
CHMP5	Q9NZZ3	Phosphorylation	86	S86-p	RDNLAQQsFNMEQAN	24.57	7997112
CHMP5	Q9NZZ3	Phosphorylation	94	Y94-p	FNMEQANytIQsLkD	24.57	465078
CHMP5	Q9NZZ3	Phosphorylation	95	T95-p	NMEQANytIQsLkDT	24.57	15402761
CHMP5	Q9NZZ3	Phosphorylation	98	S98-p	QANytIQsLkDTKTT	24.57	15418561

Showing 1 to 12 of 12 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

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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
CHMP5_ENST00000419016	ENST00000419016	W10T	thyroid	carcinoma	50851957	c.496+1560C>A	p.?	Unknown	PATHOGENIC	.96148	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	PCSI_0010_Pa_X	pancreas	carcinoma	50852339	c.316-124G>A	p.?	Unknown	NEUTRAL	.01641	Confirmed somatic variant	PMID: N/A	NS	0
CHMP5_ENST00000419016	ENST00000419016	0006_CRUK_PC_0006_T4_DNA	prostate	carcinoma	50852155	c.388-907A>G	p.?	Unknown	NEUTRAL	.02913	Confirmed somatic variant	PMID: N/A	NS	0
CHMP5_ENST00000419016	ENST00000419016	TCGA-AJ-A3EK-01	endometrium	carcinoma	50851568	c.105T>C	p.I35=	Substitution - coding silent		.62711	Confirmed somatic variant	PMID: N/A	NS	35
CHMP5_ENST00000419016	ENST00000419016	TCGA-FS-A1ZT-06	skin	malignant_melanoma	50850975	c.497G>A	p.G166E	Substitution - Missense	PATHOGENIC	.99234	Confirmed somatic variant	PMID: N/A	NS	166
CHMP5_ENST00000419016	ENST00000419016	PCSI_0169_Pa_P_526	pancreas	carcinoma	50852250	c.496+2087C>T	p.?	Unknown	NEUTRAL	.00772	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	tumor_4113825	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	50851388	c.387+2059T>G	p.?	Unknown		.5308	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	RKO	large_intestine	carcinoma	50851418	c.496+1577G>T	p.?	Unknown	PATHOGENIC	.91997	Variant of unknown origin	PMID: 24755471	NS	0
CHMP5_ENST00000419016	ENST00000419016	T_CCA_IT_2	biliary_tract	carcinoma	50851031	c.497-47del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	TCGA-BR-7707-01	stomach	carcinoma	50850388	c.-2A>T	p.?	Unknown	PATHOGENIC	.82546	Confirmed somatic variant	PMID: N/A	NS	0
CHMP5_ENST00000419016	ENST00000419016	TCGA-CN-5370-01	upper_aerodigestive_tract	carcinoma	50850572	c.435C>G	p.I145M	Substitution - Missense	PATHOGENIC	.8518	Confirmed somatic variant	PMID: N/A	NS	145
CHMP5_ENST00000419016	ENST00000419016	OSCC-GB_01280111	upper_aerodigestive_tract	carcinoma	50851605	c.69+313C>A	p.?	Unknown	NEUTRAL	.09868	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	CPCG0590-F1	prostate	carcinoma	50851475	c.221+124G>A	p.?	Unknown	NEUTRAL	.00033	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	PT38	skin	carcinoma	50851483	c.388-6C>T	p.?	Unknown	NEUTRAL	.05356	Confirmed somatic variant	PMID: 25759019	NS	0
CHMP5_ENST00000419016	ENST00000419016	2014_Lung_sq_64_T	lung	carcinoma	50850740	c.69+210C>A	p.?	Unknown	NEUTRAL	.03535	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	AS5	endometrium	other	50851996	c.412A>G	p.M138V	Substitution - Missense	PATHOGENIC	.98866	Confirmed somatic variant	PMID: 26592504	NS	138
CHMP5_ENST00000419016	ENST00000419016	PD5950a	breast	carcinoma	50852132	c.*568T>C	p.?	Unknown	PATHOGENIC	.88976	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	19T	liver	other	50851812	c.*601C>G	p.?	Unknown		.55095	Confirmed somatic variant	PMID: N/A	primary	0
CHMP5_ENST00000419016	ENST00000419016	TCGA-EY-A1GI-01	endometrium	carcinoma	50852133	c.*621G>T	p.?	Unknown	PATHOGENIC	.91434	Confirmed somatic variant	PMID: N/A	NS	0
CHMP5_ENST00000419016	ENST00000419016	T3263	large_intestine	carcinoma	50852171	c.297G>A	p.L99=	Substitution - coding silent	PATHOGENIC	.81958	Confirmed somatic variant	PMID: 27149842	NS	99

Showing 1 to 20 of 69 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
PF03357	Snf7	Snf7	12-197	CL0235	PspA	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.857	0.069
Acute Myeloid Leukemia, M1	Neoplasms ;	0.857	0.069
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.857	0.069
NO RESULT FOUND

Description:	charged multivesicular body protein 5 [Source:VGNC Symbol;Acc:VGNC:4662]
Synonyms:
Other ID(s):	ENSPTRG00000020857
Protein Accession Numbers:	XP_003312089, XP_001154646
Statistics:	ClinVar(1) gnomAD(130) COSMIC(69) PTM(12)

Classification of Clinicial Significance of ClinVar Data