GTF2I (GeneID: 2969) | Homo sapiens
Description: general transcription factor IIi [Source:HGNC Symbol;Acc:HGNC:4659]
Synonyms: SPIN, FII-I, BAP135, WBSCR6, IB291, DIWS, WBS, GTFII-I, BTKAP1
Other ID(s): HGNC:4659, ENSG00000263001
Protein Accession Numbers: ENST00000353920, NP_127492, ENST00000324896, NP_001157108, ENST00000432143, NP_127494, ENST00000346152, NP_001509, ENST00000573035, ENST00000416070, NP_127493, ENST00000324896.4, NP_001267729, ENST00000443166
Statistics: ClinVar(1)
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.
ENST00000324896 ENST00000346152 ENST00000353920 ENST00000416070 ENST00000432143 ENST00000443166 ENST00000573035 NP_001157108 You are here now! NP_001267729 NP_001509 NP_127492 NP_127493 NP_127494


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
NO DOMAINS EXIST

view_listList of the diseases from DisGeNET
Disease Name filter_list Disease Category filter_list DSI* filter_list DPI** filter_list
Leukemia, Myelocytic, Acute Neoplasms ; 0.565 0.655
Acute Myeloid Leukemia, M1 Neoplasms ; 0.565 0.655
Sicca Syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.565 0.655
Williams Syndrome Nervous System Diseases ; Cardiovascular Diseases ; Congenital, Hereditary, and Neonatal Diseases and Abnormalities ; 0.565 0.655
Thymic epithelial tumor Neoplasms ; Hemic and Lymphatic Diseases ; 0.565 0.655
Autism Spectrum Disorders Mental Disorders ; 0.565 0.655
Sjogren's Syndrome Musculoskeletal Diseases ; Stomatognathic Diseases ; Eye Diseases ; Skin and Connective Tissue Diseases ; Immune System Diseases ; 0.565 0.655
Acute Myeloid Leukemia (AML-M2) Neoplasms ; 0.565 0.655
NO RESULT FOUND
feedback