ConVarT

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:	NP_127492, ENST00000353920, NP_001157108, ENST00000324896, ENST00000432143, NP_127494, NP_001509, ENST00000346152, ENST00000573035, NP_127493, ENST00000416070, NP_001267729, ENST00000324896.4, ENST00000443166
Statistics:	gnomAD(61)

gnomAD Variants By Annotation

Inframe Deletion

Missense Variant

Start Lost

Synonymous Variant

∙ 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 NP_001267729 NP_001509 NP_127492 NP_127493 NP_127494

ClinVar Data

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

Start Lost

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
7-74103463-A-G	ENST00000432143	p.Met1?	Start Lost	0	0	0	rs782164151
7-74103473-T-C	ENST00000432143	p.Val4Ala	Missense Variant	0	0	0
7-74103474-T-A	ENST00000432143	p.Val4Val	Synonymous Variant	0	0	0	rs782493466
7-74103476-C-G	ENST00000432143	p.Ala5Gly	Missense Variant	0	0	0
7-74103479-T-C	ENST00000432143	p.Met6Thr	Missense Variant	0	0	0	rs781807761
7-74103484-A-G	ENST00000432143	p.Thr8Ala	Missense Variant	0	0	0
7-74103486-C-T	ENST00000432143	p.Thr8Thr	Synonymous Variant	0	0	0	rs587651814
7-74103487-C-A	ENST00000432143	p.Leu9Ile	Missense Variant	0	0	0
7-74103489-C-T	ENST00000432143	p.Leu9Leu	Synonymous Variant	0	0	0	rs781817779
7-74103492-C-T	ENST00000432143	p.Pro10Pro	Synonymous Variant	5	31290	0.00016	rs142138701
7-74103493-G-A	ENST00000432143	p.Val11Ile	Missense Variant	0	0	0	rs782542929
7-74103504-G-C	ENST00000432143	p.Glu14Asp	Missense Variant	0	0	0
7-74103507-G-A	ENST00000432143	p.Glu15Glu	Synonymous Variant	0	0	0
7-74103510-C-T	ENST00000432143	p.Ser16Ser	Synonymous Variant	0	0	0	rs782588651
7-74103512-C-T	ENST00000432143	p.Ser17Leu	Missense Variant	0	0	0	rs782177453
7-74103513-G-A	ENST00000432143	p.Ser17Ser	Synonymous Variant	5	31308	0.00016	rs146689774
7-74103520-A-C	ENST00000432143	p.Arg20Arg	Synonymous Variant	1	31334	0.000032	rs373523357
7-74103523-A-G	ENST00000432143	p.Met21Val	Missense Variant	0	0	0	rs782238246
7-74103528-G-A	ENST00000432143	p.Val22Val	Synonymous Variant	11	31316	0.000351	rs139725334
7-74103537-C-T	ENST00000432143	p.Phe25Phe	Synonymous Variant	0	0	0	rs782019694

Showing 1 to 20 of 61 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

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

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Organism
NO RESULT FOUND
PF02946	GTF2I	GTF2I-like repeat	112-186	Mus musculus
PF02946	GTF2I	GTF2I-like repeat	466-540	Mus musculus
PF02946	GTF2I	GTF2I-like repeat	733-807	Mus musculus
PF02946	GTF2I	GTF2I-like repeat	361-435	Mus musculus
PF02946	GTF2I	GTF2I-like repeat	571-645	Mus musculus
PF02946	GTF2I	GTF2I-like repeat	868-942	Mus musculus

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
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

Classification of Clinicial Significance of ClinVar Data