NUP98 (GeneID: 4928) | Homo sapiens
Description: nucleoporin 98 [Source:HGNC Symbol;Acc:HGNC:8068]
Synonyms: ADIR2, NUP96, NUP196
Other ID(s): ENSG00000110713, HGNC:8068
Protein Accession Numbers: ENST00000324932.7, ENST00000527104, NP_001352057, ENST00000397013, NP_001352054, NP_624358, ENST00000359171, ENST00000529379, NP_005378, ENST00000324932, ENST00000524563, NP_001352056, ENST00000397007, ENST00000533346, NP_624357, ENST00000355260, ENST00000529063, NP_001352058, ENST00000429801, NP_001352055, ENST00000397004, ENST00000532475, NP_057404
Statistics: ClinVar(5) gnomAD(661) COSMIC(350) PTM(154)
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.
ENST00000324932 ENST00000355260 ENST00000359171 ENST00000397004 You are here now! ENST00000397007 ENST00000397013 ENST00000429801 ENST00000524563 ENST00000527104 ENST00000529063 ENST00000529379 ENST00000532475 ENST00000533346 NP_001352054 NP_001352055 NP_001352056 NP_001352057 NP_001352058 NP_005378 NP_057404 NP_624357 You are here now! NP_624358


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
PF04096 Nucleoporin2 Nucleoporin autopeptidase 738-885 CL0661 Gain Homo sapiens
PF12110 Nup96 Nuclear protein 96 1332-1623 Homo sapiens

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
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
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