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

Frameshift Variant

Inframe Deletion

Inframe Insertion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
11-3733773-T-C	ENST00000397007	p.Ter938TrpextTer2	Stop Lost	0	0	0	rs778617616
11-3733779-T-G	ENST00000397007	p.Gly936Gly	Synonymous Variant	6	31410	0.000191	rs373803547
11-3733780-C-T	ENST00000397007	p.Gly936Glu	Missense Variant	0	0	0	rs757903474
11-3733785-T-C	ENST00000397007	p.Lys934Lys	Synonymous Variant	0	0	0	rs1405006558
11-3733788-C-T	ENST00000397007	p.Glu933Glu	Synonymous Variant	0	0	0	rs1285159646
11-3733797-A-G	ENST00000397007	p.Pro930Pro	Synonymous Variant	0	0	0	rs781533744
11-3733798-G-C	ENST00000397007	p.Pro930Arg	Missense Variant	0	0	0	rs746252824
11-3733799-G-A	ENST00000397007	p.Pro930Ser	Missense Variant	0	0	0	rs765075958
11-3733803-A-T	ENST00000397007	p.Pro928Pro	Synonymous Variant	0	0	0	rs1352489076
11-3733814-T-C	ENST00000397007	p.Lys925Glu	Missense Variant	0	0	0	rs775811677
11-3733825-G-A	ENST00000397007	p.Ala921Val	Missense Variant	0	0	0	rs139055389
11-3733829-T-A	ENST00000397007	p.Met920Leu	Missense Variant	1	31408	0.000032	rs1369829939
11-3733835-A-G	ENST00000397007	p.Leu918Leu	Synonymous Variant	1	31404	0.000032	rs768842423
11-3733836-G-C	ENST00000397007	p.Pro917Pro	Synonymous Variant	1	31404	0.000032	rs922492291
11-3733837-G-A	ENST00000397007	p.Pro917Leu	Missense Variant	0	0	0	rs774483720
11-3733838-G-A	ENST00000397007	p.Pro917Ser	Missense Variant	2	31402	0.000064	rs61756123
11-3733839-C-T	ENST00000397007	p.Thr916Thr	Synonymous Variant	3	31408	0.000096	rs201225431
11-3733840-G-A	ENST00000397007	p.Thr916Met	Missense Variant	34	31406	0.001083	rs149360555
11-3733843-G-A	ENST00000397007	p.Thr915Ile	Missense Variant	0	0	0	rs371207748
11-3733843-G-C	ENST00000397007	p.Thr915Ser	Missense Variant	1	31410	0.000032	rs371207748

Showing 1 to 20 of 666 entries

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Post-translational Modifications (PTMs)

Acetylation

Methylation

O-GlcNAc

Phosphorylation

Sumoylation

Ubiquitination

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Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NUP98	P52948	Phosphorylation	1000	T1000-p	IMKAsLLtDEEDVDM	197.58	471680
NUP98	P52948	Phosphorylation	1014	S1014-p	MALDQRFsRLPskAD	197.58	23256453
NUP98	P52948	Phosphorylation	1018	S1018-p	QRFsRLPskADtsQE	197.58	4333476
NUP98	P52948	Ubiquitination	1019	K1019-ub	RFsRLPskADtsQEI	197.58	27202085
NUP98	P52948	Sumoylation	1019	K1019-sm	RFsRLPskADtsQEI	197.58	610814560
NUP98	P52948	Phosphorylation	1022	T1022-p	RLPskADtsQEICsP	197.58	10370160
NUP98	P52948	Phosphorylation	1023	S1023-p	LPskADtsQEICsPR	197.58	3191794
NUP98	P52948	Phosphorylation	1028	S1028-p	DtsQEICsPRLPIsA	197.58	468338
NUP98	P52948	Phosphorylation	1034	S1034-p	CsPRLPIsAsHsSkt	197.58	12667825
NUP98	P52948	Phosphorylation	1036	S1036-p	PRLPIsAsHsSktRs	197.58	10370165
NUP98	P52948	Phosphorylation	1038	S1038-p	LPIsAsHsSktRsLV	197.58	31871198
NUP98	P52948	Ubiquitination	1040	K1040-ub	IsAsHsSktRsLVGG	197.58	41491813
NUP98	P52948	Phosphorylation	1041	T1041-p	sAsHsSktRsLVGGL	197.58	3191812
NUP98	P52948	Phosphorylation	1043	S1043-p	sHsSktRsLVGGLLQ	197.58	3191797
NUP98	P52948	Ubiquitination	1052	K1052-ub	VGGLLQSkFtsGAFL	197.58	41491817
NUP98	P52948	Phosphorylation	1054	T1054-p	GLLQSkFtsGAFLsP	197.58	20721624
NUP98	P52948	Phosphorylation	1055	S1055-p	LLQSkFtsGAFLsPs	197.58	20722117
NUP98	P52948	Phosphorylation	1060	S1060-p	FtsGAFLsPsVsVQE	197.58	483620
NUP98	P52948	Phosphorylation	1062	S1062-p	sGAFLsPsVsVQECR	197.58	4740149
NUP98	P52948	Phosphorylation	1064	S1064-p	AFLsPsVsVQECRtP	197.58	3191800

Showing 1 to 20 of 154 entries

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Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Deletion - In Frame

Insertion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

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
NUP98_ENST00000397007	ENST00000397007	FFPE-7	pancreas	carcinoma	44634543	c.1898+36A>G	p.?	Unknown	NEUTRAL	.04978	Confirmed somatic variant	PMID: 29109526	primary	0
NUP98_ENST00000397007	ENST00000397007	3206A7_017_T	liver	carcinoma	44634670	c.994_995insT	p.G332Vfs*37	Insertion - Frameshift			Confirmed somatic variant	PMID: 25159915	NS	332
NUP98_ENST00000397007	ENST00000397007	FFPE-4	pancreas	carcinoma	44635469	c.496-105G>C	p.?	Unknown	NEUTRAL	.14701	Confirmed somatic variant	PMID: 29109526	primary	0
NUP98_ENST00000397007	ENST00000397007	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	44632500	c.1087-658C>A	p.?	Unknown	NEUTRAL	.00975	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	TCGA-E9-A229-01	breast	carcinoma	44630331	c.64A>G	p.T22A	Substitution - Missense	PATHOGENIC	.95515	Confirmed somatic variant	PMID: N/A	primary	22
NUP98_ENST00000397007	ENST00000397007	DN14011	breast	carcinoma	44634210	c.1318+1792C>T	p.?	Unknown	NEUTRAL	.04335	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	CPCG0183-F1	prostate	carcinoma	44632751	c.2312-213_2312-204del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	NS	0
NUP98_ENST00000397007	ENST00000397007	TCGA-FU-A5XV-01	cervix	carcinoma	44631619	c.2356C>G	p.L786V	Substitution - Missense	PATHOGENIC	.94221	Confirmed somatic variant	PMID: N/A	NS	786
NUP98_ENST00000397007	ENST00000397007	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	44632497	c.1225+1159C>A	p.?	Unknown	NEUTRAL	.01264	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	TCGA-D3-A5GO-06	skin	malignant_melanoma	44631554	c.2524C>T	p.R842C	Substitution - Missense	PATHOGENIC	.98344	Confirmed somatic variant	PMID: N/A	NS	842
NUP98_ENST00000397007	ENST00000397007	RK025_C01	liver	carcinoma	44630300	c.-29+3331C>T	p.?	Unknown	NEUTRAL	.01454	Reported in another cancer sample as somatic	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	LP6007414-DNA_A02	oesophagus	carcinoma	44631994	c.603+623G>T	p.?	Unknown	NEUTRAL	.00996	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	tumor_4166151	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	44632495	c.1225+1193A>G	p.?	Unknown	NEUTRAL	.00315	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	EOPC-171_tumor_01	prostate	carcinoma	44636496	c.496-471A>G	p.?	Unknown	NEUTRAL	.00005	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	6	skin	carcinoma	44630916	c.1747G>A	p.E583K	Substitution - Missense	PATHOGENIC	.98881	Confirmed somatic variant	PMID: 27592799	primary	583
NUP98_ENST00000397007	ENST00000397007	TCGA-B5-A11N-01	endometrium	carcinoma	44636468	c.2757G>A	p.Q919=	Substitution - coding silent	PATHOGENIC	.76245	Confirmed somatic variant	PMID: N/A	primary	919
NUP98_ENST00000397007	ENST00000397007	EOPC-171_tumor_01	prostate	carcinoma	44636493	c.496-456G>C	p.?	Unknown	NEUTRAL	.00927	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	PET134T	pancreas	carcinoid-endocrine_tumour	44630450	c.1225+3385T>G	p.?	Unknown	NEUTRAL	.0024	Confirmed somatic variant	PMID: N/A	primary	0
NUP98_ENST00000397007	ENST00000397007	W34T	thyroid	carcinoma	44630384	c.1557C>A	p.F519L	Substitution - Missense	PATHOGENIC	.95668	Confirmed somatic variant	PMID: N/A	primary	519
NUP98_ENST00000397007	ENST00000397007	2017_AML_08_T	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm	44630639	c.1318+3965T>C	p.?	Unknown	NEUTRAL	.00415	Confirmed somatic variant	PMID: N/A	primary	0

Showing 1 to 20 of 323 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
PF04096	Nucleoporin2	Nucleoporin autopeptidase	738-885	CL0661	Gain	Homo sapiens
PF12110	Nup96	Nuclear protein 96	1332-1623			Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Anemia	Hemic and Lymphatic Diseases ;	0.586	0.414
Malignant neoplasm of breast	Neoplasms ; Skin and Connective Tissue Diseases ;	0.586	0.414
Leukemia, Myelocytic, Acute	Neoplasms ;	0.586	0.414
Lymphopenia	Hemic and Lymphatic Diseases ; Immune System Diseases ;	0.586	0.414
Acute Myeloid Leukemia, M1	Neoplasms ;	0.586	0.414
Neutropenia	Hemic and Lymphatic Diseases ;	0.586	0.414
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.586	0.414
NO RESULT FOUND

Description:	nucleoporin 98 [Source:RGD Symbol;Acc:71033]
Synonyms:
Other ID(s):	ENSRNOG00000020347
Protein Accession Numbers:	XP_006229956, XP_017445261, XP_006229954, XP_006229957, NP_112336
Statistics:	ClinVar(5) gnomAD(666) COSMIC(323) PTM(154)

Classification of Clinicial Significance of ClinVar Data