Hs04953403_cn

• Gene Symbol: GTF2I
• Assay Reference Genome Location: Chr.7:74719481 on build GRCh38
• Cytoband: 7q11.23

Target Gene Details

• Entrez Gene ID: 2969
• Gene Name: general transcription factor IIi
• Gene Aliases: BAP135, BTKAP1, DIWS, GTFII-I, IB291, SPIN, TFII-I, WBS, WBSCR6
• Location: Chr.7:74657665-74760692 on Build GRCh38
• Assay Gene Location: Within Intron 12

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
GTF2I	NM_001163636.2			NP_001157108.1
	NM_001518.4			NP_001509.3
	NM_032999.3			NP_127492.1
	NM_033000.3			NP_127493.1
	NM_033001.3			NP_127494.1
	AF015553.1			AAB70791.1
	AF035737.1			AAC08312.1
	AF038967.1			AAC08313.1
	AF038968.1			AAC08314.1
	AF038969.1			AAC08315.1
	AK292832.1
	AK294935.1
	BC070484.1			AAH70484.1
	BC099907.1			AAH99907.1
	KJ534859.1
	KJ534860.1
	KJ534861.1
	KJ534862.1
	KJ534863.1
	KJ534965.1
	U77948.1			AAB48826.1
	Y14946.1			CAA75163.1

Target Gene Details

• Entrez Gene ID: 101926943
• Gene Name: uncharacterized LOC101926943
• Gene Aliases: -
• Location: Chr.7:74688937-74728918 on Build GRCh38
• Assay Gene Location: Within Intron 2

Gene Symbol	Transcript Accession	Exon Location	Assay Transcript Location	Protein ID
LOC101926943	NR_110044.1
	DA836308.1

Target Copy Number Variation Details

• DGV Version: Release date: 2016-05-15, GRCh GRCh38

Target Variation	Location	CNV Subtype	Genes
nsv517573	Chr.7:74706683 - 74725717 on Build GRCh38	Loss	LOC101926943 GTF2I
nsv1032137	Chr.7:74697471 - 75115763 on Build GRCh38	Gain	LOC101926943 GATSL2 STAG3L2 GTF2IRD2B GTF2IRD2 GTF2I RCC1L PMS2P5 NCF1
nsv5794	Chr.7:74713348 - 74748765 on Build GRCh38	Insertion	LOC101926943 GTF2I

More Information

• Set Membership: Intragenic, Intronic, Non-exonic, DGV Variation

Panther Classification:

Molecular Function -

general transcription factor

Gene Ontology Categories:

Process(es)

regulation of transcription from RNA polymerase II promoter
transcription from RNA polymerase II promoter
transcription initiation from RNA polymerase II promoter
signal transduction
transition between slow and fast fiber
negative regulation of angiogenesis
negative regulation of cytosolic calcium ion concentration

Function(s)

RNA polymerase II transcription factor activity, sequence-specific DNA binding
DNA binding
transcription factor activity, sequence-specific DNA binding
protein binding
mitogen-activated protein kinase binding